Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.

Science.gov (United States)

Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R; Buxó, Carmen J; Castilla, Eduardo E; Christensen, Kaare; Deleyiannis, Frederic W B; Field, Leigh L; Hecht, Jacqueline T; Moreno, Lina; Orioli, Ieda M; Padilla, Carmencita; Vieira, Alexandre R; Wehby, George L; Feingold, Eleanor; Weinberg, Seth M; Murray, Jeffrey C; Marazita, Mary L

2017-06-01

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. We performed two statistical tests, Sequence Kernel Association Test (SKAT) and Combined Multivariate and Collapsing (CMC) method using two minor allele frequency cutoffs (1% and 5%). We found that a burden of low-frequency coding variants in N4BP2, CDSN, PRTG, and AHRR were associated with increased risk of NSCL/P. Low-frequency variants in other genes were associated with decreased risk of NSCL/P. These results demonstrate that low-frequency variants contribute to the genetic etiology of NSCL/P. © 2017 Wiley Periodicals, Inc.

Association of single nucleotide polymorphisms in WNT genes with the risk of nonsyndromic cleft lip with or without cleft palate.

Science.gov (United States)

Rafighdoost, Houshang; Hashemi, Mohammad; Asadi, Hossein; Bahari, Gholamreza

2018-01-22

Nonsyndromic cleft lip with or without cleft palate is a common congenital deformity worldwide with multifaceted etiology. Interaction of genes and environmental factors has been indicated to be related with susceptibility to nonsyndromic cleft lip with or without cleft palate. Some WNT genes which are involved in craniofacial embryogenesis may play a key role in the pathogenesis of nonsyndromic cleft lip with or without cleft palate. In the present study, we aimed to inspect the relationship between WNT3 (rs3809857 and rs9890413), WNT3A (rs752107 and rs3121310), and WNT10a rs201002930 (c.392 C>T) polymorphisms and nonsyndromic cleft lip with or without cleft palate in an Iranian population. The present case-control study was carried out on 120 unrelated nonsyndromic cleft lip with or without cleft palate patients and 112 healthy subjects. The variants were genotyped by polymerase chain reaction-restriction fragment length polymorphism method. The findings suggest that the rs3809857 polymorphism significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.16, 95% confidence interval = 0.03-0.75, P = 0.020, TT vs GG), recessive (odds ratio = 0.16, 95% confidence interval = 0.03-0.72, P = 0.009, TT vs GG + GT) inheritance models. The rs9890413 variant marginally decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.41, 95% confidence interval = 0.17-0.99, P = 0.047, AG vs AA) model. Regarding C392T variant, the findings revealed that this variant significantly decreased the risk of nonsyndromic cleft lip with or without cleft palate in codominant (odds ratio = 0.24, 95% confidence interval = 0.10-0.58, P = 0.002, CT vs CC) and allele (odds ratio = 0.26, 95% confidence interval = 0.11-0.62, P = 0.002, T vs C) models. No significant association was observed between the rs752107 and rs3121310 variants

Cleft lip and palate: an adverse pregnancy outcome due to undiagnosed maternal and paternal coeliac disease.

Science.gov (United States)

Arakeri, Gururaj; Arali, Veena; Brennan, Peter A

2010-07-01

Development of orofacial component involves a complex series of events. Any insult to this significant event can lead to various orofacial cleft defects. The main categories among orofacial clefts are isolated cleft palate and cleft lip with or without cleft palate. There have been many factors implicated in the development of the anomaly. The environmental factors which contribute and the genes which predispose to the condition remain obscure despite decades of research. Though it is generally agreed that folic acid deficiency is a contributory factor for non-syndromic cleft lip and palate, fewer concerns are directed towards the role for maternal/paternal nutrition in orofacial cleft origin. However, previously undescribed, here we consider the potential influence of maternal and paternal coeliac disease on the etiology of non-syndromic cleft lip and palate as an unfavorable pregnancy outcome. We postulated this relationship based on our observation, study and an empirical survey, and could be due either to (I) folic acid mal absorption (II) a genetically mediated genomic imprinting system. Copyright 2010 Elsevier Ltd. All rights reserved.

IRF6 mutation screening in non-syndromic orofacial clefting

DEFF Research Database (Denmark)

Leslie, Elizabeth J; Koboldt, Daniel C; Kang, C. J.

2016-01-01

-syndromic OFCs. About 70% of causal VWS mutations occur in IRF6, a gene that is also associated with non-syndromic OFCs. Screening for IRF6 mutations in apparently non-syndromic cases has been performed in several modestly sized cohorts with mixed results. In this study, we screened 1521 trios with presumed non......-syndromic OFCs to determine the frequency of causal IRF6 mutations. We identified seven likely causal IRF6 mutations, although a posteriori review identified two misdiagnosed VWS families based on the presence of lip pits. We found no evidence for association between rare IRF6 polymorphisms and non......-syndromic OFCs. We combined our results with other similar studies (totaling 2472 families) and conclude that causal IRF6 mutations are found in 0.24–0.44% of apparently non-syndromic OFC families. We suggest that clinical mutation screening for IRF6 be considered for certain family patterns such as families...

X-linked genes and risk of orofacial clefts

DEFF Research Database (Denmark)

Jugessur, Astanand; Skare, Øivind; Lie, Rolv T

2012-01-01

Orofacial clefts are common birth defects of complex etiology, with an excess of males among babies with cleft lip and palate, and an excess of females among those with cleft palate only. Although genes on the X chromosome have been implicated in clefting, there has been no association analysis...

Implementing the Brazilian Database on Orofacial Clefts

Directory of Open Access Journals (Sweden)

Isabella Lopes Monlleó

2013-01-01

Full Text Available Background. High-quality clinical and genetic descriptions are crucial to improve knowledge of orofacial clefts and support specific healthcare polices. The objective of this study is to discuss the potential and perspectives of the Brazilian Database on Orofacial Clefts. Methods. From 2008 to 2010, clinical and familial information on 370 subjects was collected by geneticists in eight different services. Data was centrally processed using an international system for case classification and coding. Results. Cleft lip with cleft palate amounted to 198 (53.5%, cleft palate to 99 (26.8%, and cleft lip to 73 (19.7% cases. Parental consanguinity was present in 5.7% and familial history of cleft was present in 26.3% subjects. Rate of associated major plus minor defects was 48% and syndromic cases amounted to 25% of the samples. Conclusions. Overall results corroborate the literature. Adopted tools are user friendly and could be incorporated into routine patient care. The BDOC exemplifies a network for clinical and genetic research. The data may be useful to develop and improve personalized treatment, family planning, and healthcare policies. This experience should be of interest for geneticists, laboratory-based researchers, and clinicians entrusted with OC worldwide.

Lower incidence of nonsyndromic cleft lip with or without cleft palate ...

Indian Academy of Sciences (India)

2016-08-26

Aug 26, 2016 ... In India, as in other parts of the world, nonsyndromic cleft lip with or without cleft palate (NSCL±P) is a highly prevalent birth defect, its incidence in males being twice that in females. A case–control association study has been carried out with respect to homocysteine level and MTHFR C677T, A1298C and ...

Team approach to management of oro.facial cleft among African ...

African Journals Online (AJOL)

Background: An interdisciplinary team approach concept has been proposed for management of oro.facial cleft in the last two decades. Our objective was to evaluate the practice of the team approach concept and practices of the specialists involved in oro.facial cleft care in Africa. Materials and Methods: A snapshot survey ...

Association of Parental Environmental Exposures and Supplementation Intake with Risk of Nonsyndromic Orofacial Clefts: A Case-Control Study in Heilongjiang Province, China

Directory of Open Access Journals (Sweden)

Yanru Hao

2015-08-01

Full Text Available The aim of present study was to check the possible association of potential parental environmental exposures and maternal supplementation intake with the risk of nonsyndromic orofacial clefting (NSOC. A retrospective study comprised 499 cases and 480 controls was conducted in Heilongjiang Province. Chi-square analysis and unconditional multiple logistic regression were used in the study. The results showed that maternal history of fever and the common cold without fever (ORCL/P = 3.11 and 5.56, 95%CI: 1.67–5.82 and 2.96–10.47, ORCPO = 3.31 and 8.23, 95%CI: 1.58–6.94 and 4.08–16.95, paternal smoking and alcohol consumption (ORCL/P = 2.15 and 5.04, 95%CI: 1.37–3.38 and 3.00–8.46, ORCPO = 1.82 and 4.40, 95%CI: 1.06–3.13 and 2.50–7.74, maternal exposure to organic solvents, heavy metals, or pesticides (ORCL/P = 6.07, 5.67 and 5.97, 95%CI: 1.49–24.76, 1.34–24.09 and 2.10–16.98, ORCPO = 10.65, 7.28 and 3.48, 95%CI: 2.54–44.67, 1.41–37.63 and 1.06–11.46 and multivitamin use during the preconception period (ORCL/P = 0.06, 95%CI: 0.02–0.23, ORCPO = 0.06, 95%CI: 0.01–0.30 were associated with cleft lip or without cleft palate (CL/P and cleft palate only (CPO. Maternal history of skin disease and negative life events (ORCL/P = 12.07 and 1.67, 95%CI: 1.81–80.05 and 1.95–2.67 were associated with CL/P. Some potential parental hazardous exposures during the periconception period and maternal use of multivitamins during the preconception period were associated with risk of NSOC.

FOXE1 Association with both Isolated Cleft Lip with or without Cleft Palate; and Isolated Cleft Palate

DEFF Research Database (Denmark)

Moreno, Lina M; Mansilla, Maria Adela; Bullard, Steve A

2009-01-01

Nonsyndromic orofacial clefts are a common complex birth defect caused by genetic and environmental factors and/or their interactions. A previous genome-wide linkage scan discovered a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22-q33. To identify the etiologic gene, we......) and rs4460498 (p=6.51E-12) were located inside a 70Kb high LD block containing FOXE1. Association signals for Caucasians and Asians clustered 5' and 3' of FOXE1, respectively. Isolated cleft palate (CP) was also associated indicating that FOXE1 plays a role in two phenotypes thought to be genetically...

Risk factors and comorbidities in Brazilian patients with orofacial clefts

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Heglayne Pereira Vital da Silva

2018-04-01

Full Text Available Abstract: Considering that environmental risk factors substantially contribute to the etiology of orofacial clefts and that knowledge about the characteristics and comorbidities associated with oral clefts is fundamental to promoting better quality of life, this study aimed to describe the risk factors, main characteristics, and comorbidities of a group of patients with cleft lip and/or cleft palate (CL/P from Rio Grande do Norte (RN, Brazil. Data were obtained from 173 patients with CL/P using a form from the Brazilian database on Orofacial Clefts. Most patients were male with cleft lip and palate and had a normal size and weight at birth; presented few neonatal intercurrent events; and had anemia and respiratory and cardiovascular diseases as main associated comorbidities. They also required timely surgical rehabilitation and multidisciplinary care to stimulate their neuropsychomotor development. In addition, a high frequency of familial recurrence and of parental consanguinity was evidenced in the studied population, especially for the cleft lip and cleft palate type. Other relevant findings were the considerable maternal exposure to alcohol, infections, smoking, and hypertension, as well as low supplementation with vitamins and minerals and deliberate consumption of analgesics, antibiotics, and antihypertensives during pregnancy. Characterization of the CL/P patient profile is essential for the planning of health services and integration among the health professionals involved in the diagnosis and treatment of these malformations. Our results reinforce the need for additional research to confirm the association between environmental factors and the development of orofacial clefts.

Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year Study

Directory of Open Access Journals (Sweden)

Alice V. Pereira, MD

2018-02-01

Conclusions:. The overall prevalence of associated malformations of nearly 1 in 3 children with orofacial clefts stressed the need for a comprehensive evaluation of these patients by a multidisciplinary cleft team. Moreover, one-third of the children had multiple congenital anomalies of known origins. Thus, early routine screening for other malformations and genetic counseling might be valuable for orofacial clefts management.

Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants

Energy Technology Data Exchange (ETDEWEB)

Shaw, G.M.; Wasserman, C.R.; O`Malley, C.D. [California Birth Defects Monitoring Program, Emeryville, CA (United States)] [and others

1996-03-01

Results of studies determine whether women who smoke during early pregnancy are at increased risk of delivering infants with orofacial clefts have been mixed, and recently a gene-environment interaction between maternal smoking, transforming growth factor-alpha (TGFa), and clefting has been reported. Using a large population-based case-control study, we investigated whether parental periconceptional cigarette smoking was associated with an increased risk for having offspring with orofacial clefts. We also investigated the influence of genetic variation of the TGFa locus on the relation between smoking and clefting. Parental smoking information was obtained from telephone interviews with mothers of 731 (84.7% of eligible) orofacial cleft case infants and with mothers of 734 (78.2%) nonmalformed control infants. DNA was obtained from newborn screening blood spots and genotyped for the allelic variants of TGFa. We found that risks associated with maternal smoking were most elevated for isolated cleft lip with or without cleft palate, (odds ratio 2.1 [95% confidence interval 1.3-3.6]) and for isolated cleft palate (odds ratio 2.2 [1.1-4.5]) when mothers smoked {ge} 20 cigarrettes/d. These risks for white infants ranged from 3-fold to 11-fold across phenotypic groups. Paternal smoking was not associated with clefting among the offspring of nonsmoking mothers, and passive smoke exposures were associated with at most slightly increased risks. This study offers evidence that the risk for orofacial clefting in infants may be influenced by maternal smoke exposures alone as well as in combination (gene-environment interaction) with the presence of the uncommon TGFa allele. 56 refs., 5 tabs.

Association of common variants in PAH and LAT1 with non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Polish population.

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Hozyasz, Kamil K; Mostowska, Adrianna; Wójcicki, Piotr; Lasota, Agnieszka; Wołkowicz, Anna; Dunin-Wilczyńska, Izabella; Jagodziński, Paweł P

2014-04-01

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common structural malformation with a complex and multifactorial aetiology. Associations of abnormalities in phenylalanine metabolism and orofacial clefts have been suggested. Eight single nucleotide polymorphisms (SNPs) of genes encoding phenylalanine hydroxylase (PAH) and large neutral l-amino acid transporter type 1 (LAT1), as well as the PAH mutation that is most common in the Polish population (rs5030858; R408W), were investigated in 263 patients with NSCL/P and 270 matched controls using high resolution melting curve analysis (HRM). We found that two polymorphic variants of PAH appear to be risk factors for NSCL/P. The odds ratio (OR) for individuals with the rs7485331 A allele (AC or AA) compared to CC homozygotes was 0.616 (95% confidence interval [CI]=0.437-0.868; p=0.005) and this association remains statistically significant after multiple testing correction. The PAH rs12425434, previously associated with schizophrenia, was borderline associated with orofacial clefts. Moreover, haplotype analysis of polymorphisms in the PAH gene revealed a 4-marker combination that was significantly associated with NSCL/P. The global p-value for a haplotype comprised of SNPs rs74385331, rs12425434, rs1722392, and the mutation rs5030858 was 0.032, but this association did not survive multiple testing correction. This study suggests the involvement of the PAH gene in the aetiology of NSCL/P in the tested population. Further replication will be required in separate cohorts to confirm the consistency of the observed association. Copyright © 2014 Elsevier Ltd. All rights reserved.

Antenatal determinants of oro-facial clefts in Southern Nigeria | Omo ...

African Journals Online (AJOL)

Objectives: Cleft lip with or without cleft palate, is the most common serious congenital anomaly that affects the orofacial regions. The management and care of the cleft patient constitutes a substantial proportion of the workload of the Nigerian maxillofacial surgeon and allied specialties. Yet, there are no specific ...

Prevalence of Dental Anomalies in Patients With Nonsyndromic Cleft Lip and/or Palate in a Brazilian Population.

Science.gov (United States)

Paranaiba, Lívia Máris Ribeiro; Coletta, Ricardo D; Swerts, Mário Sérgio Oliveira; Quintino, Rafaela Pacífico; de Barros, Letízia Monteiro; Martelli-Júnior, Hercílio

2013-07-01

Objective : Many studies have demonstrated a high frequency of dental anomalies in patients with cleft lip and/or palate. Because dental anomalies may complicate dental treatment, we investigated the prevalence of dental anomalies in a group of Brazilian patients with nonsyndromic cleft lip and/or palate. Design, Participants, Setting : Retrospective analysis was performed using clinical records of 296 patients aged between 12 and 30 years with repaired nonsyndromic cleft lip and/or palate without history of tooth extraction and orthodontic treatment. Associations between oral clefts and presence of dental anomalies outside the cleft area were investigated. Results : Dental anomalies were identified in 39.9% of the nonsyndromic cleft lip and/or palate patients, and tooth agenesis (47.5%), impacted tooth (13.1%), and microdontia (12.7%) were the most common anomalies. Cleft lip patients were less affected by dental anomalies compared with cleft palate or cleft lip and palate patients (p  =  .057). Specifically, patients with unilateral cleft lip and palate were significantly more affected by dental anomalies than those with bilateral cleft lip and palate (p  =  .00002), and individuals with unilateral complete cleft lip and palate (p  =  .002) and complete cleft palate (p  =  .01) were significantly more affected by tooth agenesis than other cleft types. Agenesis of the premolars (p  =  .043) and maxillary lateral incisors (p  =  .03) were significantly more frequent in patients with unilateral complete cleft lip and palate. Conclusions : The present study revealed a high frequency of dental anomalies in nonsyndromic cleft lip and/or palate patients and further demonstrated that patients with unilateral cleft lip and palate were frequently more affected by dental anomalies than those with bilateral cleft lip and palate. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning for

The need for orthognathic surgery in nonsyndromic patients with repaired isolated cleft palate.

Science.gov (United States)

Antonarakis, Gregory S; Watts, Guy; Daskalogiannakis, John

2015-01-01

To determine the frequency of need for orthognathic surgery among nonsyndromic patients with isolated cleft palate repaired during infancy at The Hospital for Sick Children in Toronto, Canada. Retrospective cohort study. PATIENTS with nonsyndromic isolated cleft palate born between 1970 and 1997 with available records including a lateral cephalometric radiograph taken at ≥15 years of age. PATIENTS who had undergone or were being prepared for orthognathic surgery were automatically counted as requiring surgery. For the remaining patients, lateral cephalometric radiographs were traced and analyzed. Arbitrarily set cephalometric criteria were used to identify the "objective" need for orthognathic surgery. Of the 189 patients identified with nonsyndromic isolated cleft palate and for whom records were available, 25 (13.2%) were deemed to require orthognathic surgery. Of the surgical cohort, 92% required surgical correction for a Class III malocclusion. Similar percentages of males and females required orthognathic surgery. An apparently greater proportion of patients of Asian background (18.5%) than of white background (10.6%) required surgery, but this difference was not significant (P = .205). The current results suggest that approximately one in eight patients at our institution with nonsyndromic isolated cleft palate requires orthognathic surgery. There is a tendency for this to be higher in patients of Asian descent and lower in patients of white descent. Variability in extent, severity, and phenotype of the cleft, which may be attributed largely to genetics, may play an important role in dictating the need for orthognathic surgery.

The Association study of nonsyndromic cleft lip with or without cleft ...

Indian Academy of Sciences (India)

Navya

2016-11-25

Nov 25, 2016 ... 12 Maternal and Children Metabolic-Genetic Key Laboratory, ... performed association analysis with NSCL/P in 504 cases and 455 healthy controls. Our ... GLI3 morphopathies have distinct clinical characteristics, the ..... Wehby G. L., Cassell C. H. 2010 The impact of orofacial clefts on quality of life and.

Patterns of orofacial clefting in the facial morphology of bats: a possible naturally occurring model of cleft palate.

Science.gov (United States)

Orr, David J A; Teeling, Emma C; Puechmaille, Sébastien J; Finarelli, John A

2016-11-01

A normal feature of the facial anatomy of many species of bat is the presence of bony discontinuities or clefts, which bear a remarkable similarity to orofacial clefts that occur in humans as a congenital pathology. These clefts occur in two forms: a midline cleft between the two premaxillae (analogous to the rare midline craniofacial clefts in humans) and bilateral paramedian clefts between the premaxilla and the maxillae (analogous to the typical cleft lip and palate in humans). Here, we describe the distribution of orofacial clefting across major bat clades, exploring the relationship of the different patterns of clefting to feeding mode, development of the vomeronasal organ, development of the nasolacrimal duct and mode of emission of the echolocation call in different bat groups. We also present the results of detailed radiographic and soft tissue dissections of representative examples of the two types of cleft. The midline cleft has arisen independently multiple times in bat phylogeny, whereas the paramedian cleft has arisen once and is a synapomorphy uniting the Rhinolophidae and Hipposideridae. In all cases examined, the bony cleft is filled in by a robust fibrous membrane, continuous with the periosteum of the margins of the cleft. In the paramedian clefts, this membrane splits to enclose the premaxilla but forms a loose fold laterally between the premaxilla and maxilla, allowing the premaxilla and nose-leaf to pivot dorsoventrally in the sagittal plane under the action of facial muscles attached to the nasal cartilages. It is possible that this is a specific adaptation for echolocation and/or aerial insectivory. Given the shared embryological location of orofacial clefts in bats and humans, it is likely that aspects of the developmental control networks that produce cleft lip and palate in humans may also be implicated in the formation of these clefts as a normal feature in some bats. A better understanding of craniofacial development in bats with and

A cross-sectional analysis of the prevalence of tooth agenesis and structural dental anomalies in association with cleft type in non-syndromic oral cleft patients.

Science.gov (United States)

Konstantonis, Dimitrios; Alexandropoulos, Alexandros; Konstantoni, Nikoleta; Nassika, Maria

2017-12-01

The aim of this study was to investigate the prevalence of tooth agenesis, microdontia, and tooth malformation among non-syndromic oral cleft patients and their potential association with cleft type and gender. Intraoral records and radiographs of 154 patients (97 males and 57 females) were examined. The variables assessed were tooth agenesis, microdontia, dental malformations, and cleft types. The statistics included chi-square and Fisher's exact tests as well as logistic regression to assess any mutual effects of gender and cleft type on the dental variables. Tooth agenesis occurred in 50% of the sample and microdontia in 18%. Non-statistically significant odds ratios for the association of gender and cleft type with tooth agenesis were obtained. Tooth agenesis was substantially higher at the unilateral right CL + P and the bilateral CL + P in quadrant 1 and at the unilateral left CL + P and bilateral CL + P in quadrant 2. It was also higher, at the isolated cleft palate (CP) in quadrants 3 and 4. These results were attributed to teeth 22 (31.8%) and 12 (21.6%) in the maxilla and to teeth 35 (6.1%) and 45 (5.4%) in the mandible. In unilateral CL + P patients, the cleft quadrant that presented tooth agenesis was associated with the side of the cleft. Interdisciplinary treatment of the oral cleft patients should take into consideration the high prevalence of tooth agenesis and their association with the different cleft types. The most frequently affected teeth by cleft are by far the upper lateral incisors. Results indicate that tooth agenesis appears to be a genetically controlled anomaly related to the orofacial cleft development through various genetic links and not caused by the cleft disruptive process.

Association of MEOX2 polymorphism with nonsyndromic cleft palate only in a Vietnamese population.

Science.gov (United States)

Tran, Duy L; Imura, Hideto; Mori, Akihiro; Suzuki, Satoshi; Niimi, Teruyuki; Ono, Maya; Sakuma, Chisato; Nakahara, Shinichi; Nguyen, Tham T H; Pham, Phuong T; Hoang, Viet; Tran, Van T T; Nguyen, Minh D; Natsume, Nagato

2017-10-14

To evaluate the association between the single nucleotide polymorphism (SNP) rs227493 in the MEOX2 gene and nonsyndromic cleft palate only, this research was conducted as a case-control study by comparing a nonsyndromic cleft palate only group with an independent, healthy, and unaffected control group who were both examined by specialists. Based on clinical examination and medical records, we analyzed a total of 570 DNA samples, including 277 cases and 293 controls, which were extracted from dry blood spot samples collected from both the Odonto and Maxillofacial Hospital in Ho Chi Minh City and Nguyen Dinh Chieu Hospital in Ben Tre province, respectively. The standard procedures of genotyping the specific SNP (rs2237493) for MEOX2 were performed on a StepOne Realtime PCR system with TaqMan SNP Genotyping Assays. Significant statistical differences were observed in allelic frequencies (allele T and allele G) between the non-syndromic cleft palate only and control groups in female subjects, with an allelic odds ratio of 1.455 (95% confidence interval: 1.026-2.064) and P < 0.05. These study findings suggest that nonsyndromic isolated cleft palate might be influenced by variation of MEOX2, especially SNP rs2237493 in Vietnamese females. © 2017 Japanese Teratology Society.

Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci

DEFF Research Database (Denmark)

Leslie, Elizabeth J; Taub, Margaret A; Liu, Huan

2015-01-01

Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants are unknown. To address this, we selected 13 regions from GWASs and other studies, performed targeted sequencing in 1,409 Asian and European...

Behavioral Signs of (Central) Auditory Processing Disorder in Children With Nonsyndromic Cleft Lip and/or Palate: A Parental Questionnaire Approach.

Science.gov (United States)

Ma, Xiaoran; McPherson, Bradley; Ma, Lian

2016-03-01

Objective Children with nonsyndromic cleft lip and/or palate often have a high prevalence of middle ear dysfunction. However, there are also indications that they may have a higher prevalence of (central) auditory processing disorder. This study used Fisher's Auditory Problems Checklist for caregivers to determine whether children with nonsyndromic cleft lip and/or palate have potentially more auditory processing difficulties compared with craniofacially normal children. Methods Caregivers of 147 school-aged children with nonsyndromic cleft lip and/or palate were recruited for the study. This group was divided into three subgroups: cleft lip, cleft palate, and cleft lip and palate. Caregivers of 60 craniofacially normal children were recruited as a control group. Hearing health tests were conducted to evaluate peripheral hearing. Caregivers of children who passed this assessment battery completed Fisher's Auditory Problems Checklist, which contains 25 questions related to behaviors linked to (central) auditory processing disorder. Results Children with cleft palate showed the lowest scores on the Fisher's Auditory Problems Checklist questionnaire, consistent with a higher index of suspicion for (central) auditory processing disorder. There was a significant difference in the manifestation of (central) auditory processing disorder-linked behaviors between the cleft palate and the control groups. The most common behaviors reported in the nonsyndromic cleft lip and/or palate group were short attention span and reduced learning motivation, along with hearing difficulties in noise. Conclusion A higher occurrence of (central) auditory processing disorder-linked behaviors were found in children with nonsyndromic cleft lip and/or palate, particularly cleft palate. Auditory processing abilities should not be ignored in children with nonsyndromic cleft lip and/or palate, and it is necessary to consider assessment tests for (central) auditory processing disorder when an

Maternal exposure to ozone and PM2.5 and the prevalence of orofacial clefts in four U.S. states

International Nuclear Information System (INIS)

Zhou, Ying; Gilboa, Suzanne M.; Herdt, Michele L.; Lupo, Philip J.; Flanders, W. Dana; Liu, Yang; Shin, Mikyong; Canfield, Mark A.; Kirby, Russell S.

2017-01-01

Background: While there is some evidence that maternal exposure to ambient air pollution is associated with orofacial clefts in offspring, the epidemiologic studies have been largely equivocal. We evaluated whether maternal exposure to elevated county-level ambient fine particulate matter with aerodynamic diameter ≤2.5 µm (PM 2.5 ) and ozone during early gestation was associated with a higher prevalence of orofacial clefts. Methods: Birth data consisting of 4.7 million births from 2001 to 2007 were obtained from National Birth Defects Prevention Network for four states — Arizona, Florida, New York (excluding New York City), and Texas. The air pollution exposure assessment for gestational weeks 5–10 was based on county-level average concentrations of PM 2.5 and ozone data generated using a Bayesian fusion model available through CDC's Environmental Public Health Tracking Network. Two outcomes were analyzed separately: cleft lip with or without cleft palate, cleft palate alone. In logistic regression analyses, we adjusted for factors that were suspected confounders or modifiers of the association between the prevalence of orofacial clefts and air pollution, i.e., infant sex, race-ethnicity, maternal education, smoking status during pregnancy, whether this was mother's first baby, maternal age. Results: Each 10 µg/m 3 increase in PM 2.5 concentration was significantly associated with cleft palate alone (OR =1.43, 95% CI: 1.11–1.86). There was no significant association between PM 2.5 concentration and cleft lip with or without cleft palate. No associations were observed between ozone exposure and the two outcomes of orofacial clefts. Conclusions: Our study suggests that PM 2.5 significantly increased the risk of cleft palate alone, but did not change the incidence of cleft lip with or without palate. Ozone levels did not correlate with incidence of orofacial clefts. - Highlights: • This is a large study with about 4.7 million births and 7000

IRF6 rs2235375 single nucleotide polymorphism is associated with isolated non-syndromic cleft palate but not with cleft lip with or without palate in south Indian population.

Science.gov (United States)

Gurramkonda, Venkatesh Babu; Syed, Altaf Hussain; Murthy, Jyotsna; Lakkakula, Bhaskar V K S

2017-06-26

Transcription factors are very diverse family of proteins involved in activating or repressing the transcription of a gene at a given time. Several studies using animal models demonstrated the role of transcription factor genes in craniofacial development. We aimed to investigate the association of IRF6 intron-6 polymorphism in the non-syndromic cleft lip with or without Palate in a south Indian population. 173 unrelated nonsyndromic cleft lip with or without Palate patients and 176 controls without clefts patients were genotyped for IRF6 rs2235375 variant by allele-specific amplification using the KASPar single nucleotide polymorphism genotyping system. The association between interferon regulatory factor-6 gene intron-6 dbSNP208032210:g.G>C (rs2235375) single nucleotide polymorphism and non-syndromic cleft lip with or without palate risk was investigated by chi-square test. There were significant differences in genotype or allele frequencies of rs2235375 single nucleotide polymorphism between controls and cases with non-syndromic cleft lip with or without palate. IRF6 rs2235375 variant was significantly associated with increased risk of non-syndromic cleft lip with or without palate in co-dominant, dominant (OR: 1.19; 95% CI 1.03-2.51; p=0.034) and allelic models (OR: 1.40; 95% CI 1.04-1.90; p=0.028). When subset analysis was applied significantly increased risk was observed in cleft palate only group (OR dominant: 4.33; 95% CI 1.44-12.97; p=0.005). These results suggest that IRF6 rs2235375 SNP play a major role in the pathogenesis and risk of developing non-syndromic cleft lip with or without palate. Copyright © 2017 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

Maternal underweight and obesity and risk of orofacial clefts in a large international consortium of population-based studies.

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Kutbi, Hebah; Wehby, George L; Moreno Uribe, Lina M; Romitti, Paul A; Carmichael, Suzan; Shaw, Gary M; Olshan, Andrew F; DeRoo, Lisa; Rasmussen, Sonja A; Murray, Jeffrey C; Wilcox, Allen; Lie, Rolv T; Munger, Ronald G

2017-02-01

Evidence on association of maternal pre-pregnancy weight with risk of orofacial clefts is inconsistent. Six large case-control studies of orofacial clefts from Northern Europe and the USA were included in analyses pooling individual-level data. Cases included 4943 mothers of children with orofacial clefts (cleft lip only: 1135, cleft palate with cleft lip: 2081, cleft palate only: 1727) and controls included 10 592 mothers of unaffected children. Association of orofacial cleft risk with pre-pregnancy maternal weight classified by level of body mass index (BMI, kg/m 2 ) was evaluated using logistic regression adjusting for multiple covariates. Cleft palate, both alone and with cleft lip (CP+/-CL), was associated with maternal class II+ pre-pregnancy obesity (≥ 35)compared with normal weight [adjusted odds ratio (aOR) = 1.36; 95% confidence interval (CI) = 1.16, 1.58]. CP+/-CL was marginally associated with maternal underweight (aOR = 1.16; 95% CI = 0.98, 1.36). Cleft lip alone was not associated with BMI. In this largest population-based study to date, we found an increased risk of cleft palate, with or without cleft lip, in class II+ obese mothers compared with normal-weight mothers; underweight mothers may also have an increased risk, but this requires further study. These results also suggest that extremes of weight may have a specific effect on palatal development. © The Author 2016; all rights reserved. Published by Oxford University Press on behalf of the International Epidemiological Association

Maternal exposure to ozone and PM{sub 2.5} and the prevalence of orofacial clefts in four U.S. states

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Zhou, Ying, E-mail: yzhou2@cdc.gov [Environmental Health Tracking Branch, Division of Environmental Hazards and Health Effects, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA (United States); Gilboa, Suzanne M. [Birth Defects Branch, Division of Congenital and Developmental Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA (United States); Herdt, Michele L. [New York State Department of Health, Center for Environmental Health, Albany, NY (United States); State University of New York at Albany, Department of Epidemiology and Biostatistics, Rensselaer, NY (United States); Lupo, Philip J. [Baylor College of Medicine, Department of Pediatrics, Section of Hematology-Oncology, Houston, TX (United States); Flanders, W. Dana [Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA (United States); Liu, Yang [Department of Environmental Health, Rollins School of Public Health, Emory University, Atlanta, GA (United States); Shin, Mikyong [Environmental Health Tracking Branch, Division of Environmental Hazards and Health Effects, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA (United States); Canfield, Mark A. [Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, TX (United States); Kirby, Russell S. [Department of Community and Family Health, College of Public Health, University of South Florida, Tampa, FL (United States)

2017-02-15

Background: While there is some evidence that maternal exposure to ambient air pollution is associated with orofacial clefts in offspring, the epidemiologic studies have been largely equivocal. We evaluated whether maternal exposure to elevated county-level ambient fine particulate matter with aerodynamic diameter ≤2.5 µm (PM{sub 2.5}) and ozone during early gestation was associated with a higher prevalence of orofacial clefts. Methods: Birth data consisting of 4.7 million births from 2001 to 2007 were obtained from National Birth Defects Prevention Network for four states — Arizona, Florida, New York (excluding New York City), and Texas. The air pollution exposure assessment for gestational weeks 5–10 was based on county-level average concentrations of PM{sub 2.5} and ozone data generated using a Bayesian fusion model available through CDC's Environmental Public Health Tracking Network. Two outcomes were analyzed separately: cleft lip with or without cleft palate, cleft palate alone. In logistic regression analyses, we adjusted for factors that were suspected confounders or modifiers of the association between the prevalence of orofacial clefts and air pollution, i.e., infant sex, race-ethnicity, maternal education, smoking status during pregnancy, whether this was mother's first baby, maternal age. Results: Each 10 µg/m{sup 3} increase in PM{sub 2.5} concentration was significantly associated with cleft palate alone (OR =1.43, 95% CI: 1.11–1.86). There was no significant association between PM{sub 2.5} concentration and cleft lip with or without cleft palate. No associations were observed between ozone exposure and the two outcomes of orofacial clefts. Conclusions: Our study suggests that PM{sub 2.5} significantly increased the risk of cleft palate alone, but did not change the incidence of cleft lip with or without palate. Ozone levels did not correlate with incidence of orofacial clefts. - Highlights: • This is a large study with about 4

Nonsyndromic cleft lip and palate: No evidence of linkage to HLA or factor 13A

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Hecht, J.T.; Yaping Wang; Connor, B.; Daiger, S.P. (Univ. of Texas, Houston (United States)); Blanton, S.H. (Univ. of Texas, Houston (United States) Univ. of Virginia, Charlottesville (United States))

1993-06-01

Nonsyndromic cleft lip with or without cleft palate (CLP) is a common craniofacial anomaly, the etiology of which is not known. Population studies have shown that a large proportion of cases occur sporadically. Recently, segregation analyses applied to CLP families have demonstrated that an autosomal dominant/codominant gene(s) may cause clefting in cases. Associations of autosomal dominant CLP and nonsyndromic cleft palate (CP) with HLA and F13A genes on chromosome 6p have been suggested previously. Linkage to these two areas on chromosome 6p were tested in 12 autosomal dominant families with CLP. With a LOD score of [minus]2 or less for exclusion, no evidence of linkage was found to four chromosome 6p markers. Multipoint analysis showed no evidence of a clefting locus in this region spanning 54 cM on chromosome 6p in these CLP families. 30 refs., 2 figs., 1 tab.

Dental anomalies inside the cleft region in individuals with nonsyndromic cleft lip with or without cleft palate.

Science.gov (United States)

Sá, Jamile; Araújo, Luana; Guimarães, Laís; Maranhão, Samário; Lopes, Gabriela; Medrado, Alena; Coletta, Ricardo; Reis, Silvia

2016-01-01

Individuals with nonsyndromic cleft lip with or without cleft palate (NSCL±P) present high frequency of dental anomalies, which may represent complicating factors for dental treatment. The aim of this study was to investigate the prevalence of dental anomalies inside cleft area in a group of Brazilians with NSCL±P. Retrospective analysis of 178 panoramic radiographs of patients aged from 12 to 45 years old and without history of tooth extraction or orthodontic treatment was performed. Association between cleft type and the prevalence of dental anomalies was assessed by chi-square test with a significance level set at p≤ 0.05. Dental anomalies were found in 88.2% (n=157) of the patients. Tooth agenesis (47.1%), giroversion (20%) and microdontia (15.5%) were the most common anomalies. Individuals with unilateral complete cleft lip and palate (CLP, pdental anomalies inside cleft region in NSCL±P patients, and further demonstrated that patients with unilateral complete CLP and bilateral incomplete CLP were frequently more affected by dental anomalies. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning of individuals affected by NSCL±P.

Birth prevalence of neural tube defects and orofacial clefts in India: a systematic review and meta-analysis.

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Komal Preet Allagh

Full Text Available In the last two decades, India has witnessed a substantial decrease in infant mortality attributed to infectious disease and malnutrition. However, the mortality attributed to birth defects remains constant. Studies on the prevalence of birth defects such as neural tube defects and orofacial clefts in India have reported inconsistent results. Therefore, we conducted a systematic review of observational studies to document the birth prevalence of neural tube defects and orofacial clefts.A comprehensive literature search for observational studies was conducted in MEDLINE and EMBASE databases using key MeSH terms (neural tube defects OR cleft lip OR cleft palate AND Prevalence AND India. Two reviewers independently reviewed the retrieved studies, and studies satisfying the eligibility were included. The quality of included studies was assessed using selected criteria from STROBE statement.The overall pooled birth prevalence (random effect of neural tube defects in India is 4.5 per 1000 total births (95% CI 4.2 to 4.9. The overall pooled birth prevalence (random effect of orofacial clefts is 1.3 per 1000 total births (95% CI 1.1 to 1.5. Subgroup analyses were performed by region, time period, consanguinity, and gender of newborn.The overall prevalence of neural tube defects from India is high compared to other regions of the world, while that of orofacial clefts is similar to other countries. The majority of studies included in the review were hospital based. The quality of these studies ranged from low to moderate. Further well-designed, high quality community-based observational studies are needed to accurately estimate the burden of neural tube defects and orofacial clefts in India.

Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants

DEFF Research Database (Denmark)

Shi, Min; Christensen, Kaare; Weinberg, Clarice R

2007-01-01

Maternal smoking is a recognized risk factor for orofacial clefts. Maternal or fetal pharmacogenetic variants are plausible modulators of this risk. In this work, we studied 5,427 DNA samples, including 1,244 from subjects in Denmark and Iowa with facial clefting and 4,183 from parents, siblings,...

Replication of 13q31.1 Association in Nonsyndromic Cleft Lip with Cleft Palate in Europeans

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Cooper, Margaret E.; Butali, Azeez; Standley, Jennifer; Rigdon, Jennifer; Suzuki1, Satoshi; Gongorjav, Ayana; Shonkhuuz, T. Enkhtur; Natsume, Nagato; Shi, Bing; Marazita, Mary L.; Murray, Jeffrey C.

2015-01-01

Genome wide association (GWA) studies have successfully identified at least a dozen loci associated with orofacial clefts. However, these signals may be unique to specific populations and require replication to validate and extend findings as a prelude to etiologic SNP discovery. We attempted to replicate the findings of a recent meta-analysis of orofacial cleft GWA studies using four different ancestral populations. We studied 946 pedigrees (3436 persons) of European (US white and Danish) and Asian (Japanese and Mongolian) origin. We genotyped six SNPs which represented the most significant P value associations identified in published studies: rs742071 (1p36), rs7590268 (2p21), rs7632427 (3p11.1), rs12543318 (8q21.3), rs8001641 (13q31.1) and rs7179658 (15q22.2). We directly sequenced three non-coding conserved regions 200kb downstream of SPRY2 in 713 cases, 438 controls, and 485 trios from the US, Mongolia, and the Philippines. We found rs8001641 to be significantly associated with cleft lip with cleft palate (NSCLP) in Europeans (p-value=4 × 10−5, ORtransmission=1.86 with 95% confidence interval: 1.38-2.52). We also found several novel sequence variants in the conserved regions in Asian and European samples, which may help to localize common variants contributing directly to the risk for NSCLP. This study confirms the prior association between rs8001641 and NSCLP in European populations. PMID:25786657

Invasive cervical resorption and the oro-facial cleft patient: a review and case series.

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O'Mahony, A; McNamara, C; Ireland, A; Sandy, J; Puryer, J

2017-05-12

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. All patients' clinical and radiological records were reviewed. Patients where tooth loss became inevitable due to Class 4 ICR were analysed.Results From 588 oro-facial cleft patients, 14 (2.38%) patients with ICR were identified. Of these eight (57%) were female and six (43%) were male. Mean age at diagnosis was 28 years (range = 16-49 years). Cleft type: six (42.1%) unilateral cleft lip and palate, eight (57.9%) bilateral cleft lip and palate. Seventeen ICR affected teeth in total, with eleven (65%) maxillary central incisors, two (12%) maxillary lateral incisors, four (23%) maxillary canines, and one (7%) central, lateral and canine affected. Some, (N = 10, 71.4%) presented with ICR resulting in immediate tooth loss. Other patients (N = 4, 28.6%) developed ICR during or following prosthodontic treatment at the Cleft Centre. Tooth loss for this cohort, though not immediate, was inevitable. All had undergone fixed orthodontic appliance treatment and twelve had received dento-alveolar bone grafts. A number (N = 7, 50%) had undergone osteotomy, two (14%) had received night guard vital dental whitening and one had a history of trauma.Conclusions ICR, given its aggressive nature and ill-understood aetiology, poses significant treatment challenges. The most severe form of ICR (Class 4) leads inevitably to tooth loss. The slow-moderate progression of ICR may explain the late presentation found in this study, reinforcing the importance

X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate

DEFF Research Database (Denmark)

Kimani, Jane W; Shi, Min; Daack-Hirsch, Sandra

2007-01-01

Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes, we investigated the role of skewed X c...

A survey of congenital heart disease and other organic malformations associated with different types of orofacial clefts in Eastern China.

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Sun, Ting; Tian, Hua; Wang, Changqian; Yin, Ping; Zhu, Yaqin; Chen, Xianghua; Tang, Zhengde

2013-01-01

A high incidence of orofacial clefts is reported in China, but no data has shown the relation between cleft types and the incidence of other defects so far. The aim of this study is to assess the incidence of congenital heart diseases and other organic defects associated with different types of orofacial clefts. All children with orofacial clefts, which were sought out from the Health Information System of Shanghai Ninth People's Hospital between 1(st) Jan 2009 and 30(th) Dec 2011, were enrolled in this study. All subjects underwent a thorough examination and grouped by the cleft phenotype. The numbers and types of other organic defects were recorded and analyzed statistically using SPSS 17.0. Of 2180 cases reported as having orofacial clefts, 657 (30.1%) had other congenital abnormalities, which were significantly more common in cleft palate (47.9% (329/687)) than that in cleft lip (10.6% (80/755)) or cleft lip and palate (33.6% (248/738)) (Pmalformation was congenital heart disease, which counted 45.1% (296/657) of all malformations. Disorders of the central nervous system (14.3%(94/657)) and Skeletal anomalies (13.1%(86/657)) were also frequently associated. Additionally, the most common defect in heart was atrial septal defect, which was 39.7% (118/296) of all congenital heart diseases. As the high incidence of heart defects and other organic abnormalities in the children with cleft palate in Eastern China, special attention should be paid to them and echocardiography should be a proposed examination in the evaluation of children with cleft palate before any surgical correction being executed.

A Survey of Congenital Heart Disease and Other Organic Malformations Associated with Different Types of Orofacial Clefts in Eastern China

Science.gov (United States)

Sun, Ting; Tian, Hua; Wang, Changqian; Yin, Ping; Zhu, Yaqin; Chen, Xianghua; Tang, Zhengde

2013-01-01

Background A high incidence of orofacial clefts is reported in China, but no data has shown the relation between cleft types and the incidence of other defects so far. The aim of this study is to assess the incidence of congenital heart diseases and other organic defects associated with different types of orofacial clefts. Methodology and Principal Findings All children with orofacial clefts, which were sought out from the Health Information System of Shanghai Ninth People's Hospital between 1st Jan 2009 and 30th Dec 2011, were enrolled in this study. All subjects underwent a thorough examination and grouped by the cleft phenotype. The numbers and types of other organic defects were recorded and analyzed statistically using SPSS 17.0. Of 2180 cases reported as having orofacial clefts, 657 (30.1%) had other congenital abnormalities, which were significantly more common in cleft palate (47.9% (329/687)) than that in cleft lip (10.6% (80/755)) or cleft lip and palate (33.6% (248/738)) (Pmalformation was congenital heart disease, which counted 45.1% (296/657) of all malformations. Disorders of the central nervous system (14.3%(94/657)) and Skeletal anomalies (13.1%(86/657)) were also frequently associated. Additionally, the most common defect in heart was atrial septal defect, which was 39.7% (118/296) of all congenital heart diseases. Conclusions and Significance As the high incidence of heart defects and other organic abnormalities in the children with cleft palate in Eastern China, special attention should be paid to them and echocardiography should be a proposed examination in the evaluation of children with cleft palate before any surgical correction being executed. PMID:23349958

Maternal Nutritional Status and the Risk for Orofacial Cleft Offspring in Humans

NARCIS (Netherlands)

Krapels, I.P.C.; Rooij, van I.A.L.M.; Ocké, M.C.; West, C.E.; Horst, van der C.M.A.M.; Steegers-Theunissen, R.P.M.

2004-01-01

Periconceptional folate and folic acid intake prevents orofacial clefts (OFC) in the offspring. It has been suggested that other nutrients also play a role. We investigated the preconceptional intake of macronutrients (protein, fat, carbohydrate, fiber, and cholesterol), vitamins (vitamin A,

Maternal nutritional status and the risk for orofacial cleft offspring in humans

NARCIS (Netherlands)

Krapels, Ingrid P. C.; van Rooij, Iris A. L. M.; Ocké, Marga C.; West, Clive E.; van der Horst, Chantal M. A. M.; Steegers-Theunissen, Régine P. M.

2004-01-01

Periconceptional folate and folic acid intake prevents orofacial clefts (OFC) in the offspring. It has been suggested that other nutrients also play a role. We investigated the preconceptional intake of macronutrients (protein, fat, carbohydrate, fiber, and cholesterol), vitamins (vitamin A,

Maternal nutritional status and the risk for orofacial cleft offspring in humans.

NARCIS (Netherlands)

Krapels, I.P.C.; Rooij, I.A.L.M. van; Ocke, M.C.; West, C.E.; Horst, C.M. van der; Steegers-Theunissen, R.P.M.

2004-01-01

Periconceptional folate and folic acid intake prevents orofacial clefts (OFC) in the offspring. It has been suggested that other nutrients also play a role. We investigated the preconceptional intake of macronutrients (protein, fat, carbohydrate, fiber, and cholesterol), vitamins (vitamin A,

Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population

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Suazo José

2011-12-01

Full Text Available Abstract Background Bone morphogenetic protein 4 gene (BMP4 plays a key role during maxillofacial development, since orofacial clefts are observed in animals when this gene is conditionally inactivated. We recently reported the existence of association between nonsyndromic cleft lip/palate (NSCLP and BMP4 polymorphisms by detecting transmission deviations for haplotypes that include a region containing a BMP4 promoter in case-parent trios. The aim of the present study was to search for possible causal mutations within BMP4 promoters (BMP4.1 and BMP4.2. Methods We analyzed the sequence of BMP4.1 and BMP4.2 in 167 Chilean NSCLP cases and 336 controls. Results We detected three novel variants in BMP4.1 (c.-5514G > A, c.-5365C > T and c.-5049C > T which could be considered as cleft risk factors due to their absence in controls. Additionally, rs2855530 G allele (BMP4.2 carriers showed an increased risk for NSCLP restricted to males (OR = 1.52; 95% C.I. = 1.07-2.15; p = 0.019. For this same SNP the dominant genotype model showed a higher frequency of G/G+G/C and a lower frequency of C/C in cases than controls in the total sample (p = 0.03 and in the male sample (p = 0.003. Bioinformatic prediction analysis showed that all the risk variants detected in this study could create new transcription factor binding motifs. Conclusions The sex-dependent association between rs2855530 and NSCLP could indirectly be related to the differential gene expression observed between sexes in animal models. We concluded that risk variants detected herein could potentially alter BMP4 promoter activity in NSCLP. Further functional and developmental studies are necessary to support this hypothesis.

A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3

DEFF Research Database (Denmark)

Leslie, Elizabeth J; Liu, Huan; Carlson, Jenna C

2016-01-01

Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP h...

Cervical vertebral maturation of female children with orofacial clefts.

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Sun, Ling; Li, Wei Ran

2013-09-01

Objective : To evaluate the skeletal maturation of girls with orofacial clefts using the cervical vertebral maturation method. Design : Case-control study. Setting : The School of Stomatology, Peking University. Patients : A total of 173 girls with cleft lip and/or palate from 8 to 16 years old were compared with 1038 age-matched girls without clefts. Results : In the 8- to 9-year-olds, most of the girls from both groups were in cervical stage 1. In the 14- to 15-year-olds and 15- to 16-year-olds, almost all the girls from both groups were in cervical stages 5 and 6, and most of the 15- to 16-year-old girls were in cervical stage 6. Differences existed in each year for 9- to 14-year-olds, which was confirmed by statistical analysis. After ordinal logistical regression of data from girls 9 to 14 years of age, girls of the same age in the non-cleft lip and/or palate group were associated with 1.559 times the odds of having achieved higher cervical stages than those in the cleft lip and/or palate group. Most girls without cleft lip and/or palate were in cervical stages 3 and 4 in the 11- to 12-year-olds; whereas, it was not so obvious in the girls with cleft lip and/or palate. By the age of 12, girls with cleft lip and/or palate had 2.667 times the risk of delayed cervical stage 3, and the 95% confidence interval for the odds ratio was 1.013 to 7.019. Conclusions : Girls with cleft lip and/or palate are at a higher risk of delayed pubertal growth.

Genetics and Management of the Patient with Orofacial Cleft

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Luciano Abreu Brito

2012-01-01

Full Text Available Cleft lip or palate (CL/P is a common facial defect present in 1 : 700 live births and results in substantial burden to patients. There are more than 500 CL/P syndromes described, the causes of which may be single-gene mutations, chromosomopathies, and exposure to teratogens. Part of the most prevalent syndromic CL/P has known etiology. Nonsyndromic CL/P, on the other hand, is a complex disorder, whose etiology is still poorly understood. Recent genome-wide association studies have contributed to the elucidation of the genetic causes, by raising reproducible susceptibility genetic variants; their etiopathogenic roles, however, are difficult to predict, as in the case of the chromosomal region 8q24, the most corroborated locus predisposing to nonsyndromic CL/P. Knowing the genetic causes of CL/P will directly impact the genetic counseling, by estimating precise recurrence risks, and the patient management, since the patient, followup may be partially influenced by their genetic background. This paper focuses on the genetic causes of important syndromic CL/P forms (van der Woude syndrome, 22q11 deletion syndrome, and Robin sequence-associated syndromes and depicts the recent findings in nonsyndromic CL/P research, addressing issues in the conduct of the geneticist.

Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts

DEFF Research Database (Denmark)

Shi, Min; Murray, Jeff; Marazita, Mary L

2012-01-01

We performed a genome wide association analysis of maternally-mediated genetic effects and parent-of-origin (POO) effects on risk of orofacial clefting (OC) using over 2,000 case-parent triads collected through an international cleft consortium. We used log-linear regression models to test indivi...... individual SNPs. For SNPs with a P-value...

Epidemiological Study of Orofacial Clefts among Population of Eastern Slovakia during the Period 1996-2013.

Science.gov (United States)

Pacáková, Diana; Zábavníková, Marianna; Miklošová, Mária; Kúkeľová, Diana; Dankovčík, Róbert

2016-06-01

Over the past 18 years, according to data from the Clinic of Plastic and Reconstructive Surgery, L. Pasteur University Hospital, there have been 493 cases of orofacial clefts (OC) reported in the area of Eastern Slovakia. The aim of this study was to map the occurrence of orofacial clefts reported in the area of Eastern Slovakia during the years 1996-2013. Also, we compared the occurrence of different types of clefts between the groups in relation to gender and ethnicity. The statistical analysis shows relationship between variables of location and gender and gender differences in the occurrence of various types of clefts. Moreover, in comparison with another study which analyzed the years 1985-2000 (1.29/10(3) live births), there was an increase in the incidence (1.42/10(3) live births) of OC in Eastern Slovakia. Our findings seem contradictive to similar studies which discuss ethnic differences in relation to OC. We recognize the relatively high occurrence of OC in Eastern Slovakia, and we link this phenomenon to several extrinsic factors, in particular socioeconomic status and embryotoxic factors. Copyright© by the National Institute of Public Health, Prague 2015.

Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies

DEFF Research Database (Denmark)

Dolk, Helen; Wang, Hao; Loane, Maria

2016-01-01

OBJECTIVE: To test previous signals of a risk of orofacial cleft (OC) and clubfoot with exposure to the antiepileptic lamotrigine, and to investigate risk of other congenital anomalies (CA). METHODS: This was a population-based case-malformed control study based on 21 EUROCAT CA registries coveri...

Phenotypic discordance in a family with monozygotic twins and non-syndromic cleft lip and palate

Energy Technology Data Exchange (ETDEWEB)

Wyszynski, D.F. [Johns Hopkins Univ., Baltimore, MD (United States)]|[National Center for Human Genome Research, Bethesda, MD (United States); Lewanda, A.F. [Johnson Hopkins Hospital, Baltimore, MD (United States)]|[Children`s National Medical Center, Washington, DC (United States); Beaty, T.H. [Johns Hopkins Univ., Balitomre, MD (United States)

1996-12-30

Despite considerable research, the cause of non-syndromic cleft lip with or without cleft palate (NSCLP) is still an enigma. Case-control and cohort studies have searched for environmental factors that might influence the development of this common malformation, such as maternal cigarette smoking, periconceptional supplementation of folic acid and multivitamins, agricultural chemical use, and place of residence, among others. However, these studies are subject to numerous biases, and their results have often been contradictory and inconclusive. 41 refs., 1 fig.

Early postnatal development of the mandible in children with isolated cleft palate and children with nonsyndromic Robin sequence

DEFF Research Database (Denmark)

Eriksen, J.; Hermann, N.V.; Darvann, Tron Andre

2006-01-01

Objective: Analysis of early postnatal mandibular size and growth velocity in children with untreated isolated cleft palate (ICP), nonsyndromic Robin sequence (RS), and a control group of children with unilateral incomplete cleft lip (UICL). Material: 114 children (66 isolated cleft palate, 7 Robin...... and mandibular growth velocity (mm/year) was calculated. Cleft width was measured on the casts at 2 months of age. Results: Mean mandibular length and posterior height were significantly smaller in isolated cleft palate and Robin sequence, compared with unilateral incomplete cleft lip. Mandibular length in Robin...... sequence was also significantly shorter, compared with isolated cleft palate. No significant difference was found between mean mandibular growth velocities in the three groups. No significant correlation was found between mandibular length and cleft width in either isolated cleft palate or Robin sequence...

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.

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Martina M A Muggenthaler

2017-01-01

Full Text Available Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, this factor remains incompletely understood. Here, we describe mutations in the HYAL2 gene as a cause of syndromic orofacial clefting. HYAL2, encoding hyaluronidase 2, degrades extracellular hyaluronan, a critical component of the developing heart and palatal shelf matrix. Transfection assays demonstrated that the gene mutations destabilize the molecule, dramatically reducing HYAL2 protein levels. Consistent with the clinical presentation in affected individuals, investigations of Hyal2-/- mice revealed craniofacial abnormalities, including submucosal cleft palate. In addition, cor triatriatum sinister and hearing loss, identified in a proportion of Hyal2-/- mice, were also found as incompletely penetrant features in affected humans. Taken together our findings identify a new genetic cause of orofacial clefting in humans and mice, and define the first molecular cause of human cor triatriatum sinister, illustrating the fundamental importance of HYAL2 and hyaluronan turnover for normal human and mouse development.

Anatomic Severity, Midfacial Growth, and Speech Outcomes in Van der Woude/Popliteal Pterygium Syndromes Compared to Nonsyndromic Cleft Lip/Palate.

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Reardon, Jeffrey B; Brustowicz, Katherine A; Marrinan, Eileen M; Mulliken, John B; Padwa, Bonnie L

2015-11-01

To summarize the clinical characteristics and surgical and speech outcomes for patients with Van der Woude/popliteal pterygium syndromes (VWS/PPS) and to compare them with a historic cohort of patients with nonsyndromic cleft lip/cleft palate (CL/P). Retrospective chart review. Tertiary care center. All patients with VWS/PPS seen at Boston Children's Hospital from 1979 to 2012: 28 patients with VWS (n = 21)/PPS (n = 7) whose mean age was 17.3 ± 10.4 years, including 18 females (64%) and 10 males (36%); 18 patients (64%) had a family history of VWS/PPS. Cleft type, operative procedures, speech, and midfacial growth. Data were compared with historic cohorts of patients with nonsyndromic CL/P treated at one tertiary care center. There were 24 patients (86%) with CP±L, Veau types I (n = 4, 17%), II (n = 4, 17%), III (n = 5, 21%), and IV (n = 11, 46%). Nine patients (38%) had palatal fistula after palatoplasty. Fourteen of 23 (61%) patients with CL/P age 5 years or older had midfacial retrusion, and 10 (43%) required a pharyngeal flap for velopharyngeal insufficiency. Fisher's exact test demonstrated higher frequencies of Veau type IV CP±L (P = .0016), bilateral CL±P (P = .0001), and complete CL±P (P palatal fistula (P clefting and higher incidences of midfacial retrusion, palatal fistula, and velopharyngeal insufficiency following primary repair as compared with nonsyndromic CL/P.

Cervical vertebral maturation of children with orofacial clefts.

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Sun, Ling; Li, Wei Ran

2012-11-01

To evaluate the skeletal maturation of male children with orofacial clefts using the cervical vertebral maturation (CVM) method. Case-control study. The School of Stomatology, Peking University. Subjects were 443 boys with cleft lip and/or cleft palate (CL/P) aged 8 to 16 years who were compared with 1772 boys without clefts in an age-matched control group. The 8- to 10-year-old boys of both groups were in CS1. Most of the 11- to 14-year-old boys without CL/P were in CS3 and CS4, though it was not so obvious in boys with CL/P. Most 15- to 16-year-old boys without CL/P were in CS5 and CS6, while there were a lot of boys with CL/P who were still in cervical stages before CS5. Clefts had a significant effect on growth, and boys without CL/P were 1.737 times more likely to have achieved higher cervical stages. From Mann-Whitney test of every age phase, the difference existed in each year of the age range of 11 to 16 years, except from 12 to 13 years (p  =  .100). In these age phases, the cervical stages of boys with CL/P were lower than those for boys without CL/P. By the age of 14, children with CL/P had a 4.679 times higher risk of delayed CS3, and the 95% confidence interval for the odds ratio was 2.129 to 10.286. Boys with CL/P are at a higher risk of delayed growth period and retarded pubertal growth peak.

Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO)

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Shiang, R. (Univ. of California, Irvine, CA (United States)); Lidral, A.C.; Ardinger, H.H.; Murray, J.C.; Romitti, P.A.; Munger, R.G.; Buetow, K.H.

1993-10-01

Genetic analysis and tissue-specific expression studies support a role for transforming growth-factor alpha (TGFA) in craniofacial development. Previous studies have confirmed an association of alleles for TGFA with nonsyndromic cleft lip with or without cleft palate (CL/P) in humans. The authors carried out a retrospective association study to determine whether specific allelic variants of the TGFA gene are also associated with cleft palate only (CPO). The PCR products from 12 overlapping sets of primers to the TGFA cDNA were examined by using single-strand conformational polymorphism analysis. Four DNA polymorphic sites for TGFA were identified in the 3[prime] untranslated region of the TGFA gene. These variants, as well as previously identified RFLPs for TGFA, were characterized in case and control populations for CPO by using X[sup 2] analysis. A significant association between alleles of TGFA and CPO was identified which further supports a role for this gene as one of the genetic determinants of craniofacial development. Sequence analysis of the variants disclosed a cluster of three variable sites within 30 bp of each other in the 3[prime] untranslated region previously associated with an antisense transcript. These studies extend the role for TGFA in craniofacial morphogenesis and support an interrelated mechanism underlying nonsyndromic forms of CL/P. 46 refs., 3 figs., 3 tabs.

Prevalence and Characteristics of Developmental Dental Anomalies in Iranian Orofacial Cleft Patients.

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Ajami, Shabnam; Pakshir, Hamidreza; Samady, Hedyeh

2017-09-01

Individuals with oral clefts exhibit considerably more dental anomalies than individuals without clefts. These problems could initially be among the symptoms of their disease and/or they may be the side effect of their treatments. Pushback palatoplasty could cause some interference during the development of teeth and result in tooth defects. The study was performed to assess the prevalence and characteristics of developmental dental anomalies in orofacial cleft patients who attended Shiraz Orthodontics Research Center-Cleft Lip and Palate Clinic. We managed to compare dental anomaly traits based on gender and cleft side. Eighty out of 121 cleft patients were included in this cross-sectional study. All the patients used pushback palatoplasty in their palate closure surgeries. Intraoral photographs, panoramic and intraoral radiographs, cone-beam computed tomography (CBCT) and dental and medical histories were examined and recorded by two observers. Data were analyzed using SPSS PC version 20.0. The differences in the side of cleft and dental anomalies were compared using the Mann-Whitney test. The mean age of patients was 14.27 years (SD=5.06). The most frequent cleft type was unilateral cleft lip and palate (50%) followed by bilateral cleft lip and palate (43.75%), cleft palate (2.5%) and cleft lip (1.25%). Male predominance (70%) was observed. 92.5 percent had at least one developmental dental anomaly. The most prevalent anomalies were hypodontia (71.25%) followed by microdontia (30%), root dilacerations (21.25%) and supernumerary teeth (15%). The most prevalent cleft types were unilateral and bilateral cleft lip and palate with male and left side predominance. Hypodontia, microdontia, dilacerations and supernumerary teeth were the most prevalent developmental dental anomalies among Iranian southwestern cleft patients. The surgical technique used to repair their cleft palate may have played a role in developmental dental defects.

Spelling Processes of Children With Nonsyndromic Cleft Lip and/or Palate: A Preliminary Study.

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Lee, Karen Shi Mei; Young, Selena Ee-Li; Liow, Susan Jane Rickard; Purcell, Alison Anne

2015-01-01

Objective :  To compare the cognitive-linguistic processes underlying spelling performance of children with cleft lip and/or palate with those of typically developing children. Design :  An assessment battery including tests of hearing, articulation, verbal short-term and working memory, and phonological awareness, as well as word and nonword spelling, was administered to both groups. Participants :  A total of 15 children with nonsyndromic cleft lip and/or palate were case-matched by age and sex to 15 typically developing children. The children were aged between 6 and 8 years and were bilingual, with English the dominant language. Results :  Wilcoxon signed-rank tests revealed that the performance of children with cleft lip and/or palate was significantly poorer on phoneme deletion and nonword spelling (P spelling measures for the cleft lip and/or palate and typically developing groups. Conclusions :  Children with cleft lip and/or palate underachieve in phonological awareness and spelling skills. To facilitate early intervention for literacy problems, speech-language pathologists should routinely assess the cognitive-linguistic processing of children with cleft lip and/or palate, especially phonological awareness, as part of their case management protocols.

Global oral health inequalities: challenges in the prevention and management of orofacial clefts and potential solutions.

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Mossey, P A; Shaw, W C; Munger, R G; Murray, J C; Murthy, J; Little, J

2011-05-01

The birth prevalence of orofacial clefts, one of the most common congenital anomalies, is approximately one in 700 live births, but varies with geography, ethnicity, and socio-economic status. There is a variation in infant mortality and access to care both between and within countries, so some clefts remain unrepaired into adulthood. Quality of care also varies, and even among repaired clefts there is residual deformity and morbidity that significantly affects some children. The two major issues in attempts to address these inequalities are (a) etiology/possibilities for prevention and (b) management and quality of care. For prevention, collaborative research efforts are required in developing countries, in line with the WHO approach to implement the recommendations of the 2008 Millennium Development Goals (www.un.org/millenniumgoals). This includes the "common risk factor" approach, which analyzes biological and social determinants of health alongside other chronic health problems such as diabetes and obesity, as outlined in the Marmot Health inequalities review (2008) (www.ucl.ac.uk/gheg/marmotreview). Simultaneously, orofacial cleft research should involve clinical researchers to identify inequalities in access to treatment and identify the best interventions for minimizing mortality and residual deformity. The future research agenda also requires engagement with implementation science to get research findings into practice.

Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts

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Shi, Min; Murray, Jeffrey C; Marazita, Mary L; Munger, Ronald G; Ruczinski, Ingo; Hetmanski, Jacqueline B; Wu, Tao; Murray, Tanda; Redett, Richard J; Wilcox, Allen J; Lie, Rolv T; Jabs, Ethylin Wang; Wu-Chou, Yah Huei; Chen, Philip K; Wang, Hong; Ye, Xiaoqian; Yeow, Vincent; Chong, Samuel S; Shi, Bing; Christensen, Kaare; Scott, Alan F; Patel, Poorav; Cheah, Felicia; Beaty, Terri H

2013-01-01

We performed a genome wide association analysis of maternally-mediated genetic effects and parent-of-origin effects on risk of orofacial clefting using over 2,000 case-parent triads collected through an international cleft consortium. We used log-linear regression models to test individual SNPs. For SNPs with a p-value <10−5 for maternal genotypic effects, we also applied a haplotype-based method, TRIMM, to extract potential information from clusters of correlated SNPs. None of the SNPs were significant at the genome wide level. Our results suggest neither maternal genome nor parent of origin effects play major roles in the etiology of orofacial clefting in our sample. This finding is consistent with previous genetic studies and recent population-based cohort studies in Norway and Denmark, which showed no apparent difference between mother-to-offspring and father-to-offspring recurrence of clefting. We, however, cannot completely rule out maternal genome or parent of origin effects as risk factors because very small effects might not be detectable with our sample size, they may influence risk through interactions with environmental exposures or may act through a more complex network of interacting genes. Thus the most promising SNPs identified by this study may still be worth further investigation. PMID:22419666

Further evidence of a relationship between the retinoic acid receptor alpha locus and nonsyndromic cleft lip with or without cleft palate (CL [+-] P)

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Shaw, D.; Field, L. (Univ. of Calgary (Canada)); Ray, A. (Univ. of Toronto (Canada)); Marazita, M. (Medical College of Virginia, Richmond, VA (United States))

1993-11-01

Chenevix-Trench et al. (1992) reported a significant difference between nonsyndromic cleft lip with or without cleft palate (CL [+-] P) cases and unrelated controls in the frequency of alleles at the retinoic acid receptor alpha (RARA) PstI RFLP located at 17q21.1. They also observed borderline significant (P = .055) differences between allele frequencies in subjects with cleft lip and palate (CL + P) compared with those with cleft lip only (CL). Retinoic acid (RA) is a known teratogen capable of producing cleft palate in rodents (Abbott and Birnbaum 1990). Chenevix-Tench et al. (1992) hypothesized that variation in susceptibility to the effects of RA in humans may result from alterations at the RARA locus. We have investigated association and linkage between CL [+-] P and a microsatellite marker (D17S579) located at 17q21 (Hall et al. 1992), selected for its proximity to RARA, in 14 extended multiplex families from rural West Bengal, India.

Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry.

Science.gov (United States)

do Rego Borges, Andrea; Sá, Jamile; Hoshi, Ryuichi; Viena, Camila Sane; Mariano, Lorena C; de Castro Veiga, Patricia; Medrado, Alena Peixoto; Machado, Renato Assis; de Aquino, Sibele Nascimento; Messetti, Ana Camila; Spritz, Richard A; Coletta, Ricardo D; Reis, Silvia R A

2015-10-01

Nonsyndromic cleft lip with or without cleft palate (NSCL ± P) is the most common orofacial birth defect, exhibiting variable prevalence around the world, often attributed to ethnic and environmental differences. Linkage analyses and genome-wide association studies have identified several genomic susceptibility regions for NSCL ± P, mostly in European-derived or Asian populations. Genetic predisposition to NSCL ± P is ethnicity-dependent, and the genetic basis of susceptibility to NSCL ± P likely varies among populations. The population of Brazil is highly admixed, with highly variable ancestry; thus, the genetic determinants of NSCL ± P susceptibility may be quite different. This study tested association of 8 single-nucleotide polymorphisms (SNPs), previously identified by genome-wide studies in other populations, with NSCL ± P in a Brazilian population with high African ancestry. SNPs rs560426, rs642961, rs1530300, rs987525, rs3758249, rs7078160, rs17085106, and rs13041247 were genotyped in 293 Brazilian patients with NSCL ± P and 352 unaffected Brazilian controls. Each sample was also genotyped for 40 biallelic short insertion/deletion polymorphic markers to characterize genetic ancestry. The average African ancestry background was 31.1% for the NSCL ± P group and 36.7% for the control group. After adjustment for ancestry and multiple testing, the minor alleles of rs3758249 (OR: 1.58, 95% CI: 1.25-2.01, P = 0.0001) and rs7078160 (OR: 1.59, 95% CI: 1.21-2.07, P = 0.0002) were significantly associated with risk of NSCL ± P. Polymorphisms located in IRF6 (rs642961) and 8q24 (rs1530300 and rs987525) showed marginal associations in this Brazilian population with high African ancestry. These results indicate that rs3758249 at 9q22 and rs7078160 at 10q25.3 represent risk loci for NSCL ± P in the Brazilian population with high African ancestry. © 2015 Wiley Periodicals, Inc.

[Progress in studies on the genetic risk factors for nonsyndromic cleft lip or palate in China].

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Huang, Y Q

2017-04-09

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. This locus was on the 16p13.3 (rs8049367) between CREBBP and ADCY9. It has been mentioned common methods of genetic analysis involved in the researches on cleft lip or palate in this paper. Furthermore, we try to discuss new methods to illustrate the etiology of cleft lip and palate that could provide more inspiration on future researches.

Non-syndromic oral clefts and risk of cancer: a systematic review

Directory of Open Access Journals (Sweden)

Daniela Araújo Veloso Popoff

2013-08-01

Full Text Available Objective: To discuss the risk of cancer among relatives of individuals with cleft lip and palate (CL/P, as well as the risk of CL/P among relatives of individuals with cancer, since studies published currently have suggested  an increased risk of cancer among relatives of cleft individuals. Design: A systematic literature review was carried out in accordance with the Cochrane Collaboration Group protocol, including literature search strategy, selection of papers through the inclusion and exclusion criteria, data extraction and quality assessment. PubMed, Scopus and ISI - Web of Science databases were systematically searched using the fallowing search strings: “cleft lip and palate” AND “cancer”, “oral clefts” AND “cancer” and “orofacial clefts” AND “cancer”. Results: From 653 studies accessed, 8 comprised the final sample: 6 investigating CL/P index cases and their family history of cancer and 2 investigating individuals with cancer and their family history for CL/P. The sample sizes were not homogeneous. Oral clefts, the type of cancer and the degree of kinship family were not categorized in all studies. Leukemia, breast cancer and colon cancer were the most cited types, even as first-and-second degree relatives. Conclusions: An increased risk of cancer among relatives of cleft individuals could not be entirely confirmed. However, studies with this specific purpose suggest that first-and-second degrees relatives of cleft individuals have some types of cancer more often than unexposed families, highlighting that future studies should expand their samples to investigate possible common molecular mechanisms that allow relating oral clefts and cancer.

Pre-operative haematological investigations in paediatric orofacial ...

African Journals Online (AJOL)

Pre-operative haematological investigations in paediatric orofacial cleft repair: Any relevance to management outcome? ... Aim and Objectives: To determine the value of routine pre-operative haematologic investigations in children undergoing orofacial cleft repair. Background: Although routine pre-operative laboratory ...

Candidate gene association studies in syndromic and non-syndromic cleft lip and palate

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Daack-Hirsch, S.; Basart, A.; Frischmeyer, P. [Univ. of Iowa, IA (United States)] [and others

1994-09-01

Using ongoing case ascertainment through a birth defects registry, we have collected 219 nuclear families with non-syndromic cleft lip and/or palate and 111 families with a collection of syndromic forms. Syndromic cases include 24 with recognized forms and 72 with unrecognized syndromes. Candidate gene studies as well as genome-wide searches for evidence of microdeletions and isodisomy are currently being carried out. Candidate gene association studies, to date, have made use of PCR-based polymorphisms for TGFA, MSX1, CLPG13 (a CA repeat associated with a human homologue of a locus that results in craniofacial dysmorphogenesis in the mouse) and an STRP found in a Van der Woude syndrome microdeletion. Control tetranucleotide repeats, which insure that population-based differences are not responsible for any observed associations, are also tested. Studies of the syndromic cases have included the same list of candidate genes searching for evidence of microdeletions and a genome-wide search using tri- and tetranucleotide polymorphic markers to search for isodisomy or structural rearrangements. Significant associations have previously been identified for TGFA, and, in this report, identified for MSX1 and nonsyndromic cleft palate only (p = 0.04, uncorrected). Preliminary results of the genome-wide scan for isodisomy has returned no true positives and there has been no evidence for microdeletion cases.

Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and palate.

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Gerson Shigeru Kobayashi

Full Text Available Non-syndromic cleft lip/palate (NSCL/P is a complex, frequent congenital malformation, determined by the interplay between genetic and environmental factors during embryonic development. Previous findings have appointed an aetiological overlap between NSCL/P and cancer, and alterations in similar biological pathways may underpin both conditions. Here, using a combination of transcriptomic profiling and functional approaches, we report that NSCL/P dental pulp stem cells exhibit dysregulation of a co-expressed gene network mainly associated with DNA double-strand break repair and cell cycle control (p = 2.88×10(-2-5.02×10(-9. This network included important genes for these cellular processes, such as BRCA1, RAD51, and MSH2, which are predicted to be regulated by transcription factor E2F1. Functional assays support these findings, revealing that NSCL/P cells accumulate DNA double-strand breaks upon exposure to H2O2. Furthermore, we show that E2f1, Brca1 and Rad51 are co-expressed in the developing embryonic orofacial primordia, and may act as a molecular hub playing a role in lip and palate morphogenesis. In conclusion, we show for the first time that cellular defences against DNA damage may take part in determining the susceptibility to NSCL/P. These results are in accordance with the hypothesis of aetiological overlap between this malformation and cancer, and suggest a new pathogenic mechanism for the disease.

Risk of leukemia in first degree relatives of patients with nonsyndromic cleft lip and palate

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Eduardo GONÇALVES

2014-01-01

Full Text Available The aim of this study was to determine the frequency of leukemia in parents of patients with nonsyndromic cleft lip and/or cleft palate (NSCL/P. This case-control study evaluated first-degree family members of 358 patients with NSCL/P and 1,432 subjects without craniofacial alterations or syndromes. Statistical analysis was carried out using Fisher’s test. From the 358 subjects with NSCL/P, 3 first-degree parents had history of leukemia, while 2 out of 1,432 subjects from the unaffected group had a family history of leukemia. The frequency of positive family history of leukemia was not significantly increased in first-degree relatives of patients with NSCL/P.

Early mother-child interaction and later quality of attachment in infants with an orofacial cleft compared to infants without cleft.

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Habersaat, Stephanie; Monnier, Maryline; Peter, Camille; Bolomey, Luce; Borghini, Ayala; Despars, Josée; Pierrehumbert, Blaise; Müller-Nix, Carole; Ansermet, François; Hohlfeld, Judith

2013-11-01

Objective : The main objective of this study was to assess mother-child patterns of interaction in relation to later quality of attachment in a group of children with an orofacial cleft compared with children without cleft. Design : Families were contacted when the child was 2 months old for a direct assessment of mother-child interaction and then at 12 months for a direct assessment of the child's attachment. Data concerning socioeconomical information and posttraumatic stress symptoms in mothers were collected at the first appointment. Participants : Forty families of children with a cleft and 45 families of children without cleft were included in the study. Families were recruited at birth in the University Hospital of Lausanne. Results : Results showed that children with a cleft were more difficult and less cooperative during interaction at 2 months of age with their mother compared with children without a cleft. No significant differences were found in mothers or in dyadic interactive styles. Concerning the child's attachment at 12 months old, no differences were found in attachment security. However, secure children with a cleft were significantly more avoidant with their mother during the reunion episodes than secure children without cleft. Conclusion : Despite the facial disfigurement and the stress engendered by treatment during the first months of the infant's life, children with cleft and their mothers are doing as well as families without cleft with regard to the mothers' mental health, mother-child relationships, and later quality of attachment. A potential contribution for this absence of difference may be the pluridisciplinary support that families of children with cleft benefit from in Lausanne.

Dental anomalies associated with unilateral and bilateral cleft lip and palate.

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Qureshi, Wafa A; Beiraghi, Soraya; Leon-Salazar, Vladimir

2012-01-01

The purpose of this study was to compare the prevalence of dental anomalies in the primary and permanent dentition of patients with unilateral (UCLP) and bilateral (BCLP) cleft lip with or without palate. One hundred two complete clinical records were randomly selected for review from a university-based cleft palate clinic. Only nonsyndromic UCLP and BCLP cases were further selected for analysis of dental anomalies. The prevalence of 9 dental categories, including anomalies in number, crown structure, position, and maxillary-mandibular relationship, was assessed and compared between UCLP and BCLP cases using Fisher's exact test. Of the 102 charts evaluated, there were 67 cases of UCLP and 29 cases of BCLP for a total of 96 cases. There was a high prevalence of dental anomalies in primary and permanent teeth; 93% of UCLP cases and 96% of BCLP cases presented with at least 1 dental anomaly. Significant differences ( P dental anomalies associated with orofacial clefts regardless of whether they are unilateral or bilateral cleft lip with or without palate.

[Orofacial closure defects: cleft lip and palate. A literature review].

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Díaz Casado, G H; Díaz Grávalos, G J

2013-01-01

Orofacial clefts are a common problem that can lead to significant healthcare use and costs, as well as suffering on the part of the affected individuals and families. There are several theories explaining their origin, but some of the findings are inconsistent. The most accepted theories involve a major genetic basis that could be modified by the presence of external agents. Understanding the underlying causes could help to prevent its occurrence, an area in which the family physician can play an important role. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

Spatial distribution of orofacial cleft defect births in Harris County, Texas, 1990 to 1994, and historical evidence for the presence of low-level radioactivity in tap water.

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Cech, Irina; Burau, Keith D; Walston, Jane

2007-06-01

While both ionizing and nonionizing radiation are known to impair human reproductive capacity, the role of low-level domestic radiation continues to be an unsettled issue. We examined the geostatistical distribution (residential longitude and latitude) of orofacial cleft birth cases adjusted for the underlying population distribution. Furthermore, we examined the cleft birth rates enumerated by zip codes for possible associations with levels of radium and radon in drinking water. Cleft births and unaffected live births in Harris County, Texas, from 1990 to 1994, were geocoded by residential addresses and tested for spatial clusters using the space-time clustering program SaTScan. Historical sample data on local variations in water quality facilitated the assessment of the association of orofacial cleft defect births with low-level radiation exposure. A cluster of significantly greater than expected numbers of cleft defect births was identified in northwest Harris County, (relative risk = 3.0, P = 0.043), where the presence of elevated levels of radium (> 3 pCi/L) and radon (> 300 pCi/L) in the tap water has been known since the 1980s. Despite the ecological design of the study, lacking individual exposure measurements for cleft birth residences, there was strong suggestive evidence of an association between elevated radiation levels in tap water and elevated cleft birth prevalence rates by zip codes. Attention of physicians is invited to environmental causes as potential risk factors for orofacial cleft. This would aid in genetic counseling and the development of future preventive measures.

[Association of muscle segment homeobox gene 1 polymorphisms with nonsyndromic cleft lip with or without cleft palate].

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Zhang, Li; Tang, Jun-Ling; Liang, Shang-Zheng

2008-06-01

Muscle segment homeobox gene (MSX)1 has been proposed as a gene in which mutations may contribute to nonsyndromic cleft lip with or without cleft palate (NSCL/P). To study MSX1 polymorphisms in NSCL/ P by means of polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP), and investigate the association of MSX1 exons 1 polymorphisms with NSCL/P. DNA were extracted from blood samples from NSCL/P and unrelated normal subjects. Genome DNA from peripheral leukocyte with these blood samples were extracted, which was used as template to amplify desired gene fragment of MSX1 exons 1 by means of polymerase chain reaction (PCR). The PCR products were examined by single-strand conformation polymorphism (SSCP). The MSX1 exons 1 polymorphisms were examined by sequencing if mutations were found. MSX1 genes of exon 1 mutation was not been found in the NSCL/P and unrelated normal subjects by SSCP. No correlation between MSX1 exon 1 and NSCL/P was found. MSX1 exon 1 may not be a key gene (susceptibility gene) in NSCL/P.

Cone-Beam Computed Tomography Analysis of the Nasopharyngeal Airway in Nonsyndromic Cleft Lip and Palate Subjects.

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Al-Fahdawi, Mahmood Abd; Farid, Mary Medhat; El-Fotouh, Mona Abou; El-Kassaby, Marwa Abdelwahab

2017-03-01

  To assess the nasopharyngeal airway volume, cross-sectional area, and depth in previously repaired nonsyndromic unilateral cleft lip and palate versus bilateral cleft lip and palate patients compared with noncleft controls using cone-beam computed tomography with the ultimate goal of finding whether cleft lip and palate patients are more liable to nasopharyngeal airway obstruction.   A retrospective analysis comparing bilateral cleft lip and palate, unilateral cleft lip and palate, and control subjects. Significance at P ≤ .05.   Cleft Care Center and the outpatient clinic that are both affiliated with our faculty.   Cone-beam computed tomography data were selected of 58 individuals aged 9 to 12 years: 14 with bilateral cleft lip and palate and 20 with unilateral cleft lip and palate as well as 24 age- and gender-matched noncleft controls.   Volume, depth, and cross-sectional area of nasopharyngeal airway were measured.   Patients with bilateral cleft lip and palate showed significantly larger nasopharyngeal airway volume than controls and patients with unilateral cleft lip and palate (P cleft lip and palate showed significantly larger cross-sectional area than those with unilateral cleft lip and palate (P .05). Patients with bilateral cleft lip and palate showed significantly larger depth than controls and those with unilateral cleft lip and palate (P cleft lip and palate showed insignificant nasopharyngeal airway volume, cross-sectional area, and depth compared with controls (P > .05).   Unilateral and bilateral cleft lip and palate patients did not show significantly less volume, cross-sectional area, or depth of nasopharyngeal airway than controls. From the results of this study we conclude that unilateral and bilateral cleft lip and palate patients at the studied age and stage of repaired clefts are not more prone to nasopharyngeal airway obstruction than controls.

Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans.

Science.gov (United States)

Lansdon, Lisa A; Darbro, Benjamin W; Petrin, Aline L; Hulstrand, Alissa M; Standley, Jennifer M; Brouillette, Rachel B; Long, Abby; Mansilla, M Adela; Cornell, Robert A; Murray, Jeffrey C; Houston, Douglas W; Manak, J Robert

2018-01-01

Orofacial clefts are one of the most common birth defects, affecting 1-2 per 1000 births, and have a complex etiology. High-resolution array-based comparative genomic hybridization has increased the ability to detect copy number variants (CNVs) that can be causative for complex diseases such as cleft lip and/or palate. Utilizing this technique on 97 nonsyndromic cleft lip and palate cases and 43 cases with cleft palate only, we identified a heterozygous deletion of Isthmin 1 in one affected case, as well as a deletion in a second case that removes putative 3' regulatory information. Isthmin 1 is a strong candidate for clefting, as it is expressed in orofacial structures derived from the first branchial arch and is also in the same "synexpression group" as fibroblast growth factor 8 and sprouty RTK signaling antagonist 1a and 2 , all of which have been associated with clefting. CNVs affecting Isthmin 1 are exceedingly rare in control populations, and Isthmin 1 scores as a likely haploinsufficiency locus. Confirming its role in craniofacial development, knockdown or clustered randomly interspaced short palindromic repeats/Cas9-generated mutation of isthmin 1 in Xenopus laevis resulted in mild to severe craniofacial dysmorphologies, with several individuals presenting with median clefts. Moreover, knockdown of isthmin 1 produced decreased expression of LIM homeobox 8 , itself a gene associated with clefting, in regions of the face that pattern the maxilla. Our study demonstrates a successful pipeline from CNV identification of a candidate gene to functional validation in a vertebrate model system, and reveals Isthmin 1 as both a new human clefting locus as well as a key craniofacial patterning gene. Copyright © 2018 by the Genetics Society of America.

Three-dimensional assessment of facial asymmetry in preschool patients with orofacial clefts after neonatal cheiloplasty.

Science.gov (United States)

Moslerová, Veronika; Dadáková, Martina; Dupej, Ján; Hoffmannova, Eva; Borský, Jiří; Černý, Miloš; Bejda, Přemysl; Kočandrlová, Karolína; Velemínská, Jana

2018-05-01

To evaluate facial asymmetry changes in pre-school patients with orofacial clefts after neonatal cheiloplasty and to compare facial asymmetry with age-matched healthy controls. The sample consisted of patients with unilateral cleft lip (UCL), unilateral cleft lip and palate (UCLP), and bilateral cleft lip and palate (BCLP). The patients were divided in two age groups with a mean age of 3 years (n = 51) and 4.5 years (n = 45), respectively, and 78 age-matched individuals as controls. Three-dimensional (3D) facial scans were analyzed using geometric morphometry and multivariate statistics. Geometric morphometry showed positive deviations from perfect symmetry on the right side of the forehead in the intervention groups and the controls. The UCL groups showed the greatest asymmetric nasolabial area on the cleft-side labia and the contralateral nasal tip. The UCLP group showed, moreover, asymmetry in buccal region due to typical maxillar hypoplasia, which was accentuated in the older group. The BCLP groups showed slightly similar but greater asymmetry than the control groups, except for the philtrum region. Asymmetry of each of the cleft groups significantly differed from the controls. Except for the buccal region in the UCLP and BCLP groups, asymmetry did not significantly increase with age. Copyright © 2018 Elsevier B.V. All rights reserved.

Linkage study of nonsyndromic cleft lip with or without cleft palate using candidate genes and mapped polymorphic markers

Energy Technology Data Exchange (ETDEWEB)

Stein, J.D.; Nelson, L.D.; Conner, B.J. [Univ. of Texas, Houston (United States)] [and others

1994-09-01

Nonsyndromic cleft lip with or without cleft palate (CL(P)) involves fusion or growth failure of facial primordia during development. Complex segregation analysis of clefting populations suggest that an autosomal dominant gene may play a role in this common craniofacial disorder. We have ascertained 16 multigenerational families with CL(P) and tested linkage to 29 candidate genes and 139 mapped short tandem repeat markers. The candidate genes were selected based on their expression in craniofacial development or were identified through murine models. These include: TGF{alpha}, TGF{beta}1, TGF{beta}2, TGF{beta}3, EGF, EGFR, GRAS, cMyc, FGFR, Jun, JunB, PDFG{alpha}, PDGF{beta}, IGF2R, GCR Hox7, Hox8, Hox2B, twirler, 5 collagen and 3 extracellular matrix genes. Linkage was tested assuming an autosomal dominant model with sex-specific decreased penetrance. Linkage to all of the candidate loci was excluded in 11 families. RARA was tested and was not informative. However, haplotype analysis of markers flanking RARA on 17q allowed exclusion of this candidate locus. We have previously excluded linkage to 61 STR markers in 11 families. Seventy-eight mapped short tandem repeat markers have recently been tested in 16 families and 30 have been excluded. The remaining are being analyzed and an exclusion map is being developed based on the entire study results.

MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

International Nuclear Information System (INIS)

Souza, L.T.; Kowalski, T.W.; Collares, M.V.M.; Félix, T.M.

2013-01-01

Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil

MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

Directory of Open Access Journals (Sweden)

L.T. Souza

2013-08-01

Full Text Available Nonsyndromic oral clefts (NSOC are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp, 0.169 (173 bp, 0.096 (171 bp and 0.67 (169 bp. A transmission disequilibrium test with a family-based association test (FBAT software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005. These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.

MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

Energy Technology Data Exchange (ETDEWEB)

Souza, L.T. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Programa de Pós-Graduaçãoo em Saúde da Criança e do Adolescente, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Kowalski, T.W. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Collares, M.V.M. [Universidade Federal do Rio Grande do Sul, Departamento de Cirurgia, Porto Alegre, RS, Brasil, Departamento de Cirurgia, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Félix, T.M. [Laboratório de Medicina Genômica, Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS (Brazil); Programa de Pós-Graduaçãoo em Saúde da Criança e do Adolescente, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS (Brazil); Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre, RS, Brasil, Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS (Brazil)

2013-08-10

Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1 CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of the MSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.

Nonsyndromic cleft lip and palate: Evidence of linkage to a microsatellite marker on 6p23

Energy Technology Data Exchange (ETDEWEB)

Carinci, F.; Pezzetti, F.; Scapoli, L.; Padula, E.; Baciliero, U.; Curioni, C.; Tognon, M.

1995-01-01

Nonsydromic cleft lip with or without secondary clefting of the palate (CL+/{minus}P) is one of the most common birth defects. A previous linkage study concerning CL+/{minus}P and cleft palate (CP) families indicated chromosome 6p, near F13A locus, as a possible region for the presence of a clefting gene. More recently, another linkage study performed on a sample of 12 families with nonsyndromic CL+/{minus}P seemed to exclude this association. To test the hypothesis on the possible presence of a major gene on chromosome 6p, we carried out a study on a large sample (21) of CL+/{minus}P families from northeastern Italy. In conclusion, our investigation can be summarized as follows: (i) CL+/{minus}P disease appears to be heterogeneous; (ii) {approximately}66% of the pedigrees showed an autosomal dominant inheritance with incomplete penetrance; and (iii) CL+/{minus}P locus maps on 6p23 very close to or at the microsatellite marker D6S89. To verify whether the D6S89 is the closest marker to the CL+/{minus}P locus, additional examinations with new markers are underway. 19 refs., 1 fig., 1 tab.

Electrophysiological assessment of auditory processing disorder in children with non-syndromic cleft lip and/or palate.

Science.gov (United States)

Ma, Xiaoran; McPherson, Bradley; Ma, Lian

2016-01-01

Cleft lip and/or palate is a common congenital craniofacial malformation found worldwide. A frequently associated disorder is conductive hearing loss, and this disorder has been thoroughly investigated in children with non-syndromic cleft lip and/or palate (NSCL/P). However, analysis of auditory processing function is rarely reported for this population, although this issue should not be ignored since abnormal auditory cortical structures have been found in populations with cleft disorders. The present study utilized electrophysiological tests to assess the auditory status of a large group of children with NSCL/P, and investigated whether this group had less robust central auditory processing abilities compared to craniofacially normal children. 146 children with NSCL/P who had normal peripheral hearing thresholds, and 60 craniofacially normal children aged from 6 to 15 years, were recruited. Electrophysiological tests, including auditory brainstem response (ABR), P1-N1-P2 complex, and P300 component recording, were conducted. ABR and N1 wave latencies were significantly prolonged in children with NSCL/P. An atypical developmental trend was found for long latency potentials in children with cleft compared to control group children. Children with unilateral cleft lip and palate showed a greater level of abnormal results compared with other cleft subgroups, whereas the cleft lip subgroup had the most robust responses for all tests. Children with NSCL/P may have slower than normal neural transmission times between the peripheral auditory nerve and brainstem. Possible delayed development of myelination and synaptogenesis may also influence auditory processing function in this population. Present research outcomes were consistent with previous, smaller sample size, electrophysiological studies on infants and children with cleft lip/palate disorders. In view of the these findings, and reports of educational disadvantage associated with cleft disorders, further research

MSX ₁ gene variant and non-syndromic clefting: association or rejection?

Science.gov (United States)

Reddy, Naveen Admala; Gopinath, Adusumilli; Reddy, Jayaprakash Thirumala; Devanna, Raghu; Saravanan, Pichai; Rohra, Mayur G

2014-01-01

Non-syndromic cleft lip/palate (NSCL/P) is a congenital anomaly with significant medical, psychological and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes. The aim of this study is to amplify the chosen region (799 G >T) of MSX 1 gene, investigate the degree of association and perform a mutation research from Raichur cleft lip and palate patient sample. Case history and clinical examination of the patient were recorded to rule. Written consent was obtained from patients and controls for in vivo study. STUDY WAS DESIGNED IN FOUR STEPS AS FOLLOWS: a. Collection of a blood sample; b. Genomic deoxyribonucleic acid (DNA) extraction; c. Polymerase chain reaction (PCR); d. Restriction fragment length polymorphism (RFLP). Blood samples were collected from 50 subjects having NSCL/P and 50 controls. Genomic DNA was extracted, PCR and RFLP was performed for digestion products that were evaluated. Chi-square test with P value at 95% confidence intervals. The results showed a positive correlation between MSX 1 799 G >T gene variant and NSCL/P patients in Raichur patients. From a genetically diverse etiology MSX 1 799 G >T gene variant may be a good screening marker for NSCL/P in Raichur patients.

Definition of critical periods for Hedgehog pathway antagonist-induced holoprosencephaly, cleft lip, and cleft palate.

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Galen W Heyne

Full Text Available The Hedgehog (Hh signaling pathway mediates multiple spatiotemporally-specific aspects of brain and face development. Genetic and chemical disruptions of the pathway are known to result in an array of structural malformations, including holoprosencephaly (HPE, clefts of the lip with or without cleft palate (CL/P, and clefts of the secondary palate only (CPO. Here, we examined patterns of dysmorphology caused by acute, stage-specific Hh signaling inhibition. Timed-pregnant wildtype C57BL/6J mice were administered a single dose of the potent pathway antagonist vismodegib at discrete time points between gestational day (GD 7.0 and 10.0, an interval approximately corresponding to the 15th to 24th days of human gestation. The resultant pattern of facial and brain dysmorphology was dependent upon stage of exposure. Insult between GD7.0 and GD8.25 resulted in HPE, with peak incidence following exposure at GD7.5. Unilateral clefts of the lip extending into the primary palate were also observed, with peak incidence following exposure at GD8.875. Insult between GD9.0 and GD10.0 resulted in CPO and forelimb abnormalities. We have previously demonstrated that Hh antagonist-induced cleft lip results from deficiency of the medial nasal process and show here that CPO is associated with reduced growth of the maxillary-derived palatal shelves. By defining the critical periods for the induction of HPE, CL/P, and CPO with fine temporal resolution, these results provide a mechanism by which Hh pathway disruption can result in "non-syndromic" orofacial clefting, or HPE with or without co-occurring clefts. This study also establishes a novel and tractable mouse model of human craniofacial malformations using a single dose of a commercially available and pathway-specific drug.

Possible linkage of non-syndromic cleft lip and palate to the MSX1 homebox gene on chromosome 4p

Energy Technology Data Exchange (ETDEWEB)

Wang, S.; Walczak, C.; Erickson, R.P.

1994-09-01

The MSX1 (HOX7) gene has been shown recently to cause cleft palate in a mouse model deficient for its product. Several features of this mouse model make the human homolog of this gene an excellent candidate for non-syndromic cleft palate. We tested this hypothesis by linkage studies in two large multiplex human families using a microsatellite marker in the human MSX1 gene. A LOD score of 1.7 was obtained maximizing at a recombination fraction of 0.09. Computer simulation power calculations using the program SIMLINK indicated that a LOD score this large is expected to occur only about 1/200 times by chance alone for a marker locus with comparable informativeness if unlinked to the disease gene. This suggestive finding is being followed up by attempts to recruit and study additional families and by DNA sequence analyses of the MSX1 gene in these families and other cleft lip and/or cleft palate subjects and these further results will also be reported.

Exploring Subclinical Phenotypic Features in Twin Pairs Discordant for Cleft Lip and Palate

DEFF Research Database (Denmark)

Leslie, Elizabeth J; Carlson, Jenna C; Cooper, Margaret E

2017-01-01

OBJECTIVE: Monozygotic twins of an individual with an orofacial cleft have a significantly elevated risk for orofacial cleft compared with the general population, but still the concordance rate for orofacial cleft in monozygotic twins is about 40% to 50%. The goal of this study was to determine w...

Clinical and Epidemiologic Description of Orofacial Clefts in Bogota and Cali, Colombia, 2001-2015.

Science.gov (United States)

Sarmiento, K; Valencia, S; Gracia, G; Hurtado-Villa, P; Zarante, I

2018-04-01

Among congenital craniofacial anomalies, orofacial clefts (OFCs) are the most common. Global prevalence is 2 in 1000 and in Colombia, 1 in 700. Our goal was to describe cleft palate (CP) prevalence and cleft lip with or without cleft palate (CL±P) from 2001 to 2015 in Bogota and Cali, Colombia. Using the ECLAMC case-control design method, information was obtained from the Congenital Anomalies Monitoring and Surveillance Programs in Bogota and Cali. We describe the prevalence of cases classified into the following groups: isolated, polymalformed, and syndromic. The proportion of cases and controls was 1:4. Data were analyzed using frequency distribution and Student t test to compare means and 95% confidence intervals (CIs). We identified 529 OFC cases and 2116 controls from 448,930 births: a rate of 11.8 per 10,000 (CI = 10.80-12.83). From the total cases, 73% were identified with CL/CP compared to 27% with CP. Males had higher CL±P (59%) prevalence, whereas the highest neonatal mortality was observed among polymalformed cases (7%). The most common anomaly identified among our cases was cleft lip without isolated cleft palate (58%). We found that OFCs are linked to birthweight, size, and gestational age and higher parity with statistically significant differences in all variables compared to controls. OFC is a highly prevalent anomaly in Colombia, with a range of maternal and infant differences across case subgroups. The identification of important OFC subgroups that follow certain patterns of prevalence may prove useful to primary and tertiary care facilities with the goal of reducing further disability.

Oral clefts, consanguinity, parental tobacco and alcohol use: a case-control study in Rio de Janeiro, Brazil

Directory of Open Access Journals (Sweden)

Isabel Cristina Gonçalves Leite

2009-03-01

Full Text Available This hospital-based, case-control study investigated the possible associations between family history of malformations, parental consanguinity, smoking and alcohol drinking and nonsyndromic orofacial cleft (OC, subdivided in 2 main groups: CL/P - cleft lip with or without cleft palate and CP - cleft palate alone. 274 cases were matched (age, sex and place of residence to 548 controls. Odds ratios (OR and 95% confidence intervals (95% CI - adjusted for maternal age, schooling and smoking / alcohol use - were calculated by conditional logistic regression. The results demonstrated that the history of oral clefts either in the father's (CL/P: OR = 16.00, 5.64-69.23; CP: OR = 6.64, 1.48-33.75 or in the mother's family (CL/P: OR = 5.00, 2.31-10.99, CP: OR = 12.44, 1.33-294.87 was strongly associated with both types of clefts, but parental consanguinity was associated only with CL/P (OR = 3.8, 1.27-12.18. Prevalence of maternal smoking during the first trimester of pregnancy was higher among cases but the OR (1.13, 0.81-1.57 was not statistically significant. Maternal passive smoking (nonsmoking mothers during pregnancy was associated with CL/P (1.39, 1.01-1.98 but not with CP. Maternal alcohol use during the 1st trimester increased odds for CL/P (OR = 2.08, 1.27-3.41 and CP (OR = 2.89, 1.25-8.30, and odds for OC tended to increase with dose. Neither smoking nor alcohol use by fathers increased risks for OC. This study provides further evidence of a possible role of maternal exposure to tobacco smoke and alcohol in the etiology of nonsyndromic oral clefts.

Cortisol levels and sleep patterns in infants with orofacial clefts undergoing surgery

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Mueller AA

2014-10-01

Full Text Available Andreas A Mueller,1,2 Nadeem Kalak,3 Katja Schwenzer-Zimmerer,1,2 Edith Holsboer-Trachsler,3 Serge Brand3,4 1Craniomaxillofacial Surgery, University of Basel and University Hospital of Basel, Basel, Switzerland; 2Hightech Research Center of Craniomaxillofacial Surgery, University of Basel, Basel, Switzerland; 3Psychiatric Clinics of the University of Basel, Center for Affective, Stress, and Sleep Disorders, Basel, Switzerland; 4Department of Sport and Health Science, Division of Sport Science, University of Basel, Basel, Switzerland Background: Traumatic events during early infancy might damage infants’ psychobiological functioning, such as sleep and cortisol secretion. Infants born with orofacial clefts (OFCs undergo functional, anatomical, and aesthetic surgery. The aim of the present study was to determine whether infants with OFC and undergoing OFC surgery show deteriorated sleep and cortisol secretion compared with healthy controls and with their presurgery status.Methods: A total of 27 infants with OFC (mean age: 22 weeks and 30 healthy controls (mean age: 23 weeks took part in the study. For infants with OFC, sleep actigraphy was performed and saliva cortisol was analyzed 5 days before, during, and 5 days after surgery. For controls, sleep and saliva cortisol were assessed similarly, except for the period taken up with surgery.Results: Compared with healthy controls, infants with OFC undergoing OFC surgery did not differ in sleep and cortisol secretion. Their sleep and cortisol secretion did deteriorate during the perisurgical period but recovered 5 days postsurgery. Conclusion: In infants with OFC undergoing corrective surgery, the pattern of results for sleep and cortisol suggests that OFC surgery does not seem to constitute a traumatic event with long-term consequences. Keywords: cortisol, sleep, orofacial cleft, surgery, infants

Gene-gene interaction between MSX1 and TP63 in Asian case-parent trios with nonsyndromic cleft lip with or without cleft palate.

Science.gov (United States)

Liu, Dongjing; Schwender, Holger; Wang, Mengying; Wang, Hong; Wang, Ping; Zhu, Hongping; Zhou, Zhibo; Li, Jing; Wu, Tao; Beaty, Terri H

2018-03-01

Small ubiquitin-like modification, also known as sumoylation, is a crucial post-translational regulatory mechanisms involved in development of the lip and palate. Recent studies reported two sumoylation target genes, MSX1 and TP63, to have achieved genome-wide level significance in tests of association with nonsyndromic clefts. Here, we performed a candidate gene analysis considering gene-gene and gene-environment interaction for SUMO1, MSX1, and TP63 to further explore the etiology of nonsyndromic cleft lip with or without cleft palate (NSCL/P). A total of 130 single-nucleotide polymorphisms (SNPs) in or near SUMO1, MSX1, and TP63 was analyzed among 1,038 Asian NSCL/P trios ascertained through an international consortium. Conditional logistic regression models were used to explore gene-gene (G × G) and gene-environment (G × E) interaction involving maternal environmental tobacco smoke and multivitamin supplementation. Bonferroni correction was used for G × E analysis and permutation tests were used for G × G analysis. While transmission disequilibrium tests and gene-environment interaction analysis showed no significant results, we did find signals of gene-gene interaction between SNPs near MSX1 and TP63. Three pairwise interactions yielded significant p values in permutation tests (rs884690 and rs9290890 with p = 9.34 × 10 -5 and empirical p = 1.00 × 10 -4 , rs1022136 and rs4687098 with p = 2.41 × 10 -4 and empirical p = 2.95 × 10 -4 , rs6819546 and rs9681004 with p = 5.15 × 10 -4 and empirical p = 3.02 × 10 -4 ). Gene-gene interaction between MSX1 and TP63 may influence the risk of NSCL/P in Asian populations. Our study provided additional understanding of the genetic etiology of NSCL/P and underlined the importance of considering gene-gene interaction in the etiology of this common craniofacial malformation. © 2018 Wiley Periodicals, Inc.

Evidence-Based Medicine: Cleft Palate.

Science.gov (United States)

Woo, Albert S

2017-01-01

After studying this article, the participant should be able to: 1. Describe the incidence of cleft palate and risk factors associated with development of an orofacial cleft. 2. Understand differences among several techniques to repair clefts of both the hard and soft palates. 3. Discuss risk factors for development of postoperative fistulas, velopharyngeal insufficiency, and facial growth problems. 4. Establish a treatment plan for individualized care of a cleft palate patient. Orofacial clefts are the most common congenital malformations of the head and neck region, and approximately three-quarters of these patients have some form of cleft palate deformity. Cleft palate repair is generally performed in children between 6 and 12 months of age. The goals of palate repair are to minimize the occurrence of fistulas, establish a normal velopharyngeal mechanism, and optimize facial growth. This Maintenance of Certification review discusses the incidence and epidemiology associated with cleft palate deformity and specifics associated with patient care, including analgesia, surgical repair techniques, and complications associated with repair of the cleft palate.

Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate - A Danish registry study

Energy Technology Data Exchange (ETDEWEB)

Christensen, K. [Aarhus Univ. (Denmark)]|[Odense Univ. Medical School (Denmark); Mitchell, L.E. [Aarhus Univ. (Denmark)]|[St. Louis Univ. School of Public Health, MO (United States)

1996-01-01

The finding of an association between genetic variation at the transforming growth-factor alpha (TGFA) locus and nonsyndromic isolated cleft palate (CP) represents a potentially important breakthrough in our understanding of this condition. The present study was undertaken to assess the feasibility of detecting linkage to putative CP-susceptibility loci, such as TGFA. To this end, the familial recurrence pattern for CP was evaluated to determine the most likely mode of inheritance for this condition. The study took advantage of the high ascertainment and uniform registration of CP in Denmark. In addition, the study utilized estimates of familial recurrence that were obtained by register linkage and, hence, were not subject to either recall bias or the potentially biasing influence of nonresponders. The recurrence risks for first-, second-, and third-degree relatives of 1,364 nonsyndromic CP probands were estimated to be 2.74% (72/2,628), 0.28% (3/1,068), and 0.00% (0/360), respectively. These estimates are close to published estimates based on questionnaire and interview data. The population prevalence for nonsyndromic CP was, however, found to be considerable higher than usually reported (0.058% [1,456/2,523,023]). Analyses of these and previously published data, using the method presented by Risch, indicated that major-locus or additive multilocus inheritance of CP is unlikely. The familial recurrence pattern was, however, consistent with CP being determined by several interacting loci. Under such a model, a single locus accounting for more than a sixfold increase in the risk to first-degree relatives of CP probands is unlikely, whereas a single locus accounting for a threefold increase provided a good fit to the data. Such a locus could be detected in a realistic sample of affected sib pairs. 26 refs., 3 tabs.

School absence and its effect on school performance for children born with orofacial clefts.

Science.gov (United States)

Bell, Jane; Raynes-Greenow, Camille; Turner, Robin; Bower, Carol; Dodson, Alan; Hancock, Kirsten; Nassar, Natasha

2017-07-17

School absence is associated with lower performance on standardized tests. Children born with orofacial clefts (OFC) are likely to have more absence than children without OFC; however, school absence for children with OFC has not been quantified. We aimed to describe school absence and its relationship with school performance for children with and without OFC. Population-based record-linked cohort study of children (402 with OFC, 1789 without OFC) enrolled in schools in Western Australia, 2008 to 2012. We compared median school absence rates using Wilcoxon rank tests, and investigated the impact of school absence on standardized scores from reading, numeracy, and writing tests, using multivariable models fitted by generalized estimating equations. In Semester 1, at each primary school year level, children without OFC and children with cleft lip only or cleft palate only had similar median absence rates (approximately 1 week). Children with cleft lip and palate had significantly higher absence rates in Years 4 to 6 (between 1 and 2 weeks). During secondary school, median absence rates were higher (2 weeks) for all children, but not statistically different between children with and without OFC. Higher absence was significantly associated with lower standardized reading, numeracy, and writing scores. However, having a cleft of any type had little influence on the association between absence and test scores. School absence affected school performance for all children. Absence did not differentially disadvantage children born with OFC, suggesting current practices to identify and support children with OFC are minimizing effects of their absence on school performance. Birth Defects Research 109:1048-1056, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Nonsyndromic cleft lip with or without cleft palate: Increased burden of rare variants within Gremlin-1, a component of the bone morphogenetic protein 4 pathway.

Science.gov (United States)

Al Chawa, Taofik; Ludwig, Kerstin U; Fier, Heide; Pötzsch, Bernd; Reich, Rudolf H; Schmidt, Gül; Braumann, Bert; Daratsianos, Nikolaos; Böhmer, Anne C; Schuencke, Hannah; Alblas, Margrieta; Fricker, Nadine; Hoffmann, Per; Knapp, Michael; Lange, Christoph; Nöthen, Markus M; Mangold, Elisabeth

2014-06-01

The genes Gremlin-1 (GREM1) and Noggin (NOG) are components of the bone morphogenetic protein 4 pathway, which has been implicated in craniofacial development. Both genes map to recently identified susceptibility loci (chromosomal region 15q13, 17q22) for nonsyndromic cleft lip with or without cleft palate (nsCL/P). The aim of the present study was to determine whether rare variants in either gene are implicated in nsCL/P etiology. The complete coding regions, untranslated regions, and splice sites of GREM1 and NOG were sequenced in 96 nsCL/P patients and 96 controls of Central European ethnicity. Three burden and four nonburden tests were performed. Statistically significant results were followed up in a second case-control sample (n = 96, respectively). For rare variants observed in cases, segregation analyses were performed. In NOG, four rare sequence variants (minor allele frequency elements. © 2014 Wiley Periodicals, Inc.

Nonsyndromic cleft lip with or without cleft palate: Evidence of linkage to BCL3 in 17 multigenerational families

Energy Technology Data Exchange (ETDEWEB)

Stein, J.; Hecht, T. [Univ. of Texas, Houston, TX (United States); Stal, S. [Texas Children`s Hospital, Houston, TX (United States)] [and others

1995-08-01

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial developmental defect. Recent segregation analyses have suggested that major genes play a role in the etiology of CL/P. Linkage to 22 candidate genes was tested in 11 multigenerational families with CL/P, and 21 of these candidates were excluded. APOC2, 19q13.1, which is linked to the proto-oncogene BCL3, gave suggestive evidence for linkage to CL/P. The study was expanded to include a total of 39 multigenerational CL/P families. Linkage was tested in all families, using anonymous marker, D19S178, and intragenic markers in BCL3 and APOC2. Linkage was tested under two models, autosomal dominant with reduced penetrance and affecteds-only model. Both models showed evidence of heterogeneity, with 43% of families linked at zero recombination to BCL3 when marker data from BCL3 and APOC2 were included. A maximum multipoint LOD score of 7.00 at BCL3 was found among the 17 families that had posterior probabilities {ge}50% in favor of linkage. The transmission disequilibrium test provided additional evidence for linkage with the 3 allele of BCL3 more often transmitted to affected children. These results suggest that BCL3, or a nearby gene, plays a role in the etiology of CL/P in some families. 39 refs., 8 figs., 4 tabs.

Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene

Science.gov (United States)

Ludwig, Kerstin U.; Ahmed, Syeda Tasnim; Böhmer, Anne C.; Sangani, Nasim Bahram; Varghese, Sheryil; Klamt, Johanna; Schuenke, Hannah; Gültepe, Pinar; Hofmann, Andrea; Rubini, Michele; Aldhorae, Khalid Ahmed; Steegers-Theunissen, Regine P.; Rojas-Martinez, Augusto; Reiter, Rudolf; Borck, Guntram; Knapp, Michael; Nakatomi, Mitsushiro; Graf, Daniel; Mangold, Elisabeth; Peters, Heiko

2016-01-01

Nonsyndromic orofacial clefts are common birth defects with multifactorial etiology. The most common type is cleft lip, which occurs with or without cleft palate (nsCLP and nsCLO, respectively). Although genetic components play an important role in nsCLP, the genetic factors that predispose to palate involvement are largely unknown. In this study, we carried out a meta-analysis on genetic and clinical data from three large cohorts and identified strong association between a region on chromosome 15q13 and nsCLP (P = 8.13×10−14 for rs1258763; relative risk (RR): 1.46, 95% confidence interval (CI): 1.32–1.61)) but not nsCLO (P = 0.27; RR: 1.09 (0.94–1.27)). The 5 kb region of strongest association maps downstream of Gremlin-1 (GREM1), which encodes a secreted antagonist of the BMP4 pathway. We show during mouse embryogenesis, Grem1 is expressed in the developing lip and soft palate but not in the hard palate. This is consistent with genotype-phenotype correlations between rs1258763 and a specific nsCLP subphenotype, since a more than two-fold increase in risk was observed in patients displaying clefts of both the lip and soft palate but who had an intact hard palate (RR: 3.76, CI: 1.47–9.61, Pdifflip or palate defects in Grem1-deficient mice, wild type embryonic palatal shelves developed divergent shapes when cultured in the presence of ectopic Grem1 protein (P = 0.0014). The present study identified a non-coding region at 15q13 as the second, genome-wide significant locus specific for nsCLP, after 13q31. Moreover, our data suggest that the closely located GREM1 gene contributes to a rare clinical nsCLP entity. This entity specifically involves abnormalities of the lip and soft palate, which develop at different time-points and in separate anatomical regions. PMID:26968009

Diabetes mellitus and drug abuse during pregnancy and the risk for orofacial clefts and related abnormalities

Directory of Open Access Journals (Sweden)

Ivy Kiemle Trindade-Suedam

Full Text Available Abstract Objective: to assessed the prevalence of diabetes mellitus (DM and drug abuse in mothers of children with orofacial clefts (OFC. Methods: 325 women who had children (0-3y with clefts were interviewed. Data regarding type of diabetes, use of legal/illegal drugs during pregnancy, waist girth and fasting blood sugar at the first prenatal consult were collected. Results: twenty seven percent of the women had DM, out of these, 89% had gestational DM, 5,5% type 1 DM and 5,5% type 2 DM. The prevalence of DM in mothers of children with OFC was 27%, it is significantly higher than the average Brazilian population which is 7.6% (p<0.01 (OR=4.5, 95%CI=3.5-5.8. Regarding drug abuse during pregnancy, 32% of the mothers used drugs and a significant positive correlation was observed between drug abuse and the occurrence of clefts and other craniofacial anomalies (p=0.028 (OR=2.87; 95%CI=1.1-7.4. Conclusions: DM and drug abuse during pregnancy increases the risk for OFC and related anomalies and early diagnosis of DM and prevention of drug abuse, especially in pregnant women, should be emphasized.

Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate

DEFF Research Database (Denmark)

Beaty, Terri H; Ruczinski, Ingo; Murray, Jeffrey C

2011-01-01

Nonsyndromic cleft palate (CP) is a common birth defect with a complex and heterogeneous etiology involving both genetic and environmental risk factors. We conducted a genome-wide association study (GWAS) using 550 case-parent trios, ascertained through a CP case collected in an international...... consortium. Family-based association tests of single nucleotide polymorphisms (SNP) and three common maternal exposures (maternal smoking, alcohol consumption, and multivitamin supplementation) were used in a combined 2 df test for gene (G) and gene-environment (G × E) interaction simultaneously, plus...... multiple SNPs associated with higher risk of CP in the presence of maternal smoking. Additional evidence of reduced risk due to G × E interaction in the presence of multivitamin supplementation was observed for SNPs in BAALC on chr. 8. These results emphasize the need to consider G × E interaction when...

Assessment of nostril symmetry after primary cleft rhinoplasty in patients with complete unilateral cleft lip and palate

NARCIS (Netherlands)

Reddy, S.G.; Devarakonda, V.; Reddy, RR

2013-01-01

The aim of this study was to assess the nostril symmetry following primary cleft rhinoplasty done with either a dorsal onlay or columellar strut graft in patients with non-syndromic complete unilateral cleft lip and palate. In this retrospective study 30 consecutive patients treated with autogenous

Cleft Lip – A Comprehensive Review

OpenAIRE

Shkoukani, Mahdi A.; Chen, Michael; Vong, Angela

2013-01-01

Orofacial clefts comprise a range of congenital deformities and are the most common head and neck congenital malformation. Clefting has significant psychological and socio- economic effects on patient quality of life and require a multidisciplinary team approach for management. The complex interplay between genetic and environmental factors play a significant role in the incidence and cause of clefting. In this review, the embryology, classification, epidemiology, and etiology of cleft lip ar...

Face facts: Genes, environment, and clefts

Energy Technology Data Exchange (ETDEWEB)

Murray, J.C. [Univ. of Iowa, Iowa City IA (United States)

1995-08-01

Cleft lip and/or palate provides an ideal, albeit complex, model for the study of human developmental anomalies. Clefting disorders show a mix of well-defined syndromic causes (many with single-gene or environmental etiologies) coupled with their more common presentation in the nonsyndromic form. This summary presents some insight into the genetic causes of, etiology of and animal models for cleft lip and/or palate. 79 refs.

Communicative abilities in toddlers and in early school age children with cleft palate

NARCIS (Netherlands)

Ruiter, Jolien S.; Korsten-Meijer, Astrid G. W.; Goorhuis-Brouwer, Siena M.

Objectives: Evaluation of improvement in communicative abilities in children with nonsyndromic cleft palate. Methods: Longitudinal retrospective case history Study. Out of 117 children with cleft lip and/or cleft palate born in 1998, 1999 and 2000 and enrolled in the cleft palate team of the

Genotyping of a tri-allelic polymorphism by a novel melting curve assay in MTHFD1L: an association study of nonsyndromic Cleft in Ireland

LENUS (Irish Health Repository)

Minguzzi, Stefano

2012-04-20

AbstractBackgroundPolymorphisms within the MTHFD1L gene were previously associated with risk of neural tube defects in Ireland. We sought to test the most significant MTHFD1L polymorphisms for an association with risk of cleft in an Irish cohort. This required the development of a new melting curve assay to genotype the technically challenging MTHFD1L triallelic deletion\\/insertion polymorphism (rs3832406).MethodsMelting curve analysis was used to genotype the MTHFD1L triallelic deletion\\/insertion polymorphism (rs3832406) and a Single Nucleotide Polymorphism rs17080476 in an Irish cohort consisting of 981 Irish case-parent trios and 1,008 controls. Tests for association with nonsyndromic cleft lip with or without cleft palate and cleft palate included case\\/control analysis, mother\\/control analysis and Transmission Disequilibrium Tests of case-parent trios.ResultsA successful melting curve genotyping assay was developed for the deletion\\/insertion polymorphism (rs3832406). The TDT analysis initially showed that the rs3832406 polymorphism was associated with isolated cleft lip with or without cleft palate. However, corrected p-values indicated that this association was not significant.ConclusionsMelting Curve Analysis can be employed to successfully genotype challenging polymorphisms such as the MTHFD1L triallelic deletion\\/insertion polymorphism (DIP) reported here (rs3832406) and is a viable alternative to capillary electrophoresis. Corrected p-values indicate no association between MTHFD1L and risk of cleft in an Irish cohort.

Evidence for an association between nonsyndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4

Energy Technology Data Exchange (ETDEWEB)

Mitchell, L.E.; Healey, S.C.; Chenevix-Trench, G. [St. Louis Univ. Health Sciences Center, MO (United States)]|[Queensland Institute of Medical Research, Brisbane (Australia)

1995-11-01

Recent studies suggest that the familial aggregation of nonsyndromic cleft lip with or without cleft palate (CL{+-}P) is likely to be attributable to the effects of several susceptibility loci, acting in a multiplicative fashion. Two potential CL{+-}P susceptibility loci (CSL), transforming growth factor alpha (TGFA) and retinoic acid receptor (RARA), have been identified through association studies. In addition, recent evidence of linkage between CL{+-}P and two markers (D4S175 and D4S192) in the region 4q25-4q31.3 raised the possibility that a CSL, with a larger effect than either TGFA or RARA, may reside within this region of the human genome. The present analyses were undertaken to determine whether D4S175 or D4S192 is significantly associated with CL{+-}P in a sample of unrelated patients that have previously provided evidence of associations between CL{+-}P and both TGFA and RARA. The results of these analyses provide further, tentative, evidence for the presence of a CSL locus on the long arm of chromosome 4 and help to refine the location of this locus in the region of D4S175 and D4S192. 28 refs., 4 tabs.

Cleft lip and/or palate genetic conditioning – is MMP2 gene polymorphism important for thisdefect development?

Directory of Open Access Journals (Sweden)

Marzena Zalewska-Ziob

2014-09-01

Full Text Available Introduction: Cleft lip/palate is one of the most common congenital malformations. In Poland, approximately 500 children with an orofacial cleft are born every year. Matrix metalloproteinases are involved in periodontal tissue remodelling and degradation. Polymorphisms in the promoter region of the MMP2 gene may affect transcription and activity of the protein produced by this gene. The aim of the study was to examine 1306 C/T MMP2 gene promoter polymorphisms in the group of children with cleft lip/palate and in the control group as well as to determine the frequency of individual genotypes in different types of orofacial clefts. Material and methods: The study was conducted in the group of 150 children with cleft lip/palate and 102 children without an orofacial cleft. Genomic DNA was obtained from oral mucosa epithelium. The MMP2 gene promoter polymorphism was genotyped by tetra-primer ARMS-PCR. Results: There are no significant differences in the frequency of individual alleles in different types of orofacial clefts. The occurrence of the CC genotype was significantly higher in the group with cleft lip and palate than in the healthy group (p = 0.005. Conclusion: Determining the polymorphism of matrix metalloproteinase gene promoter sequence can contribute to the elucidation of cleft lip/palate aetiopathogenesis.

Cleft lip and cleft palate relationship with familial marriage: a study in 136 cases

Directory of Open Access Journals (Sweden)

Azimi C

2010-02-01

Full Text Available "n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Arial; mso-bidi-theme-font:minor-bidi;} Background: Clefts of the lip and palate are one of the most common congenital birth anomalies. Genetic factors play a great role in the etiology of them and the high percentage of the consanguineous marriage of the parents of the affected persons is one of the reasons. These defects not only make abnormal changes on appearance of the neonate, but also make a lot of stress and psychological problems for the patients and their families. Study on the prevalence of clefts, their risk factors and also genetic counseling for affected persons and their families can be a guideline for general population and probably reduce these anomalies over the generations."n"nMethods: Patients referred to the Department of Genetics, Imam Khomeini Hospital, Tehran, Iran were studied. A total of 7374 pedigrees of all the patients admitted to the Department, were studied during 2002-2005 and 99 pedigrees with the patients with cleft lip± palate or isolated cleft palate were separated. The total number of cases among these 99 pedigrees was 136. The effects of consanguineous marriage, positive family history and sex were investigated among cases."n"nResults: 70.8% of patients with syndromic clefts and 58.7% of patients with nonsyndromic CL�

A cross-sectional survey of 5-year-old children with non-syndromic unilateral cleft lip and palate: the Cleft Care UK study. Part 1: background and methodology.

Science.gov (United States)

Persson, M; Sandy, J R; Waylen, A; Wills, A K; Al-Ghatam, R; Ireland, A J; Hall, A J; Hollingworth, W; Jones, T; Peters, T J; Preston, R; Sell, D; Smallridge, J; Worthington, H; Ness, A R

2015-11-01

We describe the methodology for a major study investigating the impact of reconfigured cleft care in the United Kingdom (UK) 15 years after an initial survey, detailed in the Clinical Standards Advisory Group (CSAG) report in 1998, had informed government recommendations on centralization. This is a UK multicentre cross-sectional study of 5-year-olds born with non-syndromic unilateral cleft lip and palate. Children born between 1 April 2005 and 31 March 2007 were seen in cleft centre audit clinics. Consent was obtained for the collection of routine clinical measures (speech recordings, hearing, photographs, models, oral health, psychosocial factors) and anthropometric measures (height, weight, head circumference). The methodology for each clinical measure followed those of the earlier survey as closely as possible. We identified 359 eligible children and recruited 268 (74.7%) to the study. Eleven separate records for each child were collected at the audit clinics. In total, 2666 (90.4%) were collected from a potential 2948 records. The response rates for the self-reported questionnaires, completed at home, were 52.6% for the Health and Lifestyle Questionnaire and 52.2% for the Satisfaction with Service Questionnaire. Response rates and measures were similar to those achieved in the previous survey. There are practical, administrative and methodological challenges in repeating cross-sectional surveys 15 years apart and producing comparable data. © 2015 The Authors. Orthodontics & Craniofacial Research Published by John Wiley & Sons Ltd.

A cross-sectional survey of 5-year-old children with non-syndromic unilateral cleft lip and palate: the Cleft Care UK study. Part 1: background and methodology

Science.gov (United States)

Persson, M; Sandy, J R; Waylen, A; Wills, A K; Al-Ghatam, R; Ireland, A J; Hall, A J; Hollingworth, W; Jones, T; Peters, T J; Preston, R; Sell, D; Smallridge, J; Worthington, H; Ness, A R

2015-01-01

Structured Abstract Objectives We describe the methodology for a major study investigating the impact of reconfigured cleft care in the United Kingdom (UK) 15 years after an initial survey, detailed in the Clinical Standards Advisory Group (CSAG) report in 1998, had informed government recommendations on centralization. Setting and Sample Population This is a UK multicentre cross-sectional study of 5-year-olds born with non-syndromic unilateral cleft lip and palate. Children born between 1 April 2005 and 31 March 2007 were seen in cleft centre audit clinics. Materials and Methods Consent was obtained for the collection of routine clinical measures (speech recordings, hearing, photographs, models, oral health, psychosocial factors) and anthropometric measures (height, weight, head circumference). The methodology for each clinical measure followed those of the earlier survey as closely as possible. Results We identified 359 eligible children and recruited 268 (74.7%) to the study. Eleven separate records for each child were collected at the audit clinics. In total, 2666 (90.4%) were collected from a potential 2948 records. The response rates for the self-reported questionnaires, completed at home, were 52.6% for the Health and Lifestyle Questionnaire and 52.2% for the Satisfaction with Service Questionnaire. Conclusions Response rates and measures were similar to those achieved in the previous survey. There are practical, administrative and methodological challenges in repeating cross-sectional surveys 15 years apart and producing comparable data. PMID:26567851

Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families.

Science.gov (United States)

Schultz, R E; Cooper, M E; Daack-Hirsch, S; Shi, M; Nepomucena, B; Graf, K A; O'Brien, E K; O'Brien, S E; Marazita, M L; Murray, J C

2004-02-15

Cleft lip with or without cleft palate (CL/P) is a congenital anomaly with variable birth prevalence based on geographic origins, with the highest rates commonly found in Asian populations. About 70% of cases are nonsyndromic (NS), in which the affected individual has no other abnormalities. NS CL/P is a complex disorder with genetic and environmental effects and no specific genetic loci yet confirmed. Fifteen candidate regions were examined for linkage to NS CL/P. Regions were chosen based on previous suggestive linkage and/or association in human families, or suggestive animal model data. Polymorphic markers in these regions were genotyped for analysis on 36 Filipino families comprised of 126 affected and 218 unaffected individuals. An additional 70 families with 149 affecteds were used for replication of suggestive results. Parametric (LOD score) and nonparametric (SIMIBD) linkage analyses were performed as well as transmission disequilibrium test (TDT) analysis. Five markers yielded suggestive results from the 36 families. The parametric LOD scores for the MSX1-CA and D4S1629 were >1.0 and the SIMIBD P values for D6S1029 and RFC1 are suggestive (value of 0.01 for TGFA was significant. Since the Msx1 mouse knockout has cleft palate and MSX1 mutations have been found in rare cases of syndromic CL/P, this locus is especially plausible for linkage. Previous studies have also found linkage of NS CL/P to 4q31 and 6p23. These regions contain several candidate genes, including AP2 at 6p23 and FGF2, BMPR1B, and MADH1 at 4q31. TGFA has both linkage and linkage disequilibrium data supporting it as a candidate gene for NS CL/P. While no region was definitively confirmed for linkage to NS CL/P, the data do support further investigation using larger sample sizes and candidate gene studies at 2p13.2, 4p16.2, 4q31, 6p23, and 16q22-24. Copyright 2003 Wiley-Liss, Inc.

A discriminant analysis prediction model of non-syndromic cleft lip with or without cleft palate based on risk factors.

Science.gov (United States)

Li, Huixia; Luo, Miyang; Luo, Jiayou; Zheng, Jianfei; Zeng, Rong; Du, Qiyun; Fang, Junqun; Ouyang, Na

2016-11-23

A risk prediction model of non-syndromic cleft lip with or without cleft palate (NSCL/P) was established by a discriminant analysis to predict the individual risk of NSCL/P in pregnant women. A hospital-based case-control study was conducted with 113 cases of NSCL/P and 226 controls without NSCL/P. The cases and the controls were obtained from 52 birth defects' surveillance hospitals in Hunan Province, China. A questionnaire was administered in person to collect the variables relevant to NSCL/P by face to face interviews. Logistic regression models were used to analyze the influencing factors of NSCL/P, and a stepwise Fisher discriminant analysis was subsequently used to construct the prediction model. In the univariate analysis, 13 influencing factors were related to NSCL/P, of which the following 8 influencing factors as predictors determined the discriminant prediction model: family income, maternal occupational hazards exposure, premarital medical examination, housing renovation, milk/soymilk intake in the first trimester of pregnancy, paternal occupational hazards exposure, paternal strong tea drinking, and family history of NSCL/P. The model had statistical significance (lambda = 0.772, chi-square = 86.044, df = 8, P Self-verification showed that 83.8 % of the participants were correctly predicted to be NSCL/P cases or controls with a sensitivity of 74.3 % and a specificity of 88.5 %. The area under the receiver operating characteristic curve (AUC) was 0.846. The prediction model that was established using the risk factors of NSCL/P can be useful for predicting the risk of NSCL/P. Further research is needed to improve the model, and confirm the validity and reliability of the model.

Hearing outcomes in patients with cleft lip/palate.

Science.gov (United States)

Skuladottir, Hildur; Sivertsen, Ase; Assmus, Jorg; Remme, Asa Rommetveit; Dahlen, Marianne; Vindenes, Hallvard

2015-03-01

Objective : Children with cleft lip and palate or cleft palate only have a high incidence of conductive hearing loss from otitis media with effusion. Studies demonstrating longitudinal results are lacking. This study was undertaken to investigate long-term longitudinal hearing outcomes of children with cleft lip and/or cleft palate and cleft palate only. Design : Retrospective chart review. Setting : Clinical charts of patients born with cleft lip and palate or cleft palate only in 1985 to 1994 who were referred to the cleft team in Bergen, Norway. Study findings include 15 years of follow-up. Participants : The study population consisted of 317 children of whom 159 had nonsyndromic cleft lip and palate and 158 had nonsyndromic cleft palate. Main Outcome Measures : Pure tone average calculated from pure tone audiometry at ages 4, 6, and 15 years. Results : The median pure tone average significantly improved with increasing age. For the cleft lip and palate group, the median pure tone average at ages 4, 6, and 15 years was 16 dB hearing level (HL), 13 dB HL, and 9 dB HL, respectively (P ≤ .001). In the cleft palate group the median pure tone average at ages 4, 6, and 15 years was 15 dB HL, 12 dB HL, and 9 dB HL, respectively (P ≤ .001). There was no significant difference in the hearing levels between the two groups. Patients who had surgical closure of the palate at age 18 months had a significantly better pure tone average outcome at age 15 compared with patients who had surgery at 12 months. Conclusions : Hearing improves significantly from childhood to adolescence in patients with cleft lip and palate and cleft palate only.

Evidence for gene-environment interaction in a genome wide study of isolated, non-syndromic cleft palate

Science.gov (United States)

Beaty, Terri H.; Ruczinski, Ingo; Murray, Jeffrey C.; Marazita, Mary L.; Munger, Ronald G.; Hetmanski, Jacqueline B.; Murray, Tanda; Redett, Richard J.; Fallin, M. Daniele; Liang, Kung Yee; Wu, Tao; Patel, Poorav J.; Jin, Sheng C.; Zhang, Tian Xiao; Schwender, Holger; Wu-Chou, Yah Huei; Chen, Philip K; Chong, Samuel S; Cheah, Felicia; Yeow, Vincent; Ye, Xiaoqian; Wang, Hong; Huang, Shangzhi; Jabs, Ethylin W.; Shi, Bing; Wilcox, Allen J.; Lie, Rolv T.; Jee, Sun Ha; Christensen, Kaare; Doheny, Kimberley F.; Pugh, Elizabeth W.; Ling, Hua; Scott, Alan F.

2011-01-01

Non-syndromic cleft palate (CP) is a common birth defect with a complex and heterogeneous etiology involving both genetic and environmental risk factors. We conducted a genome wide association study (GWAS) using 550 case-parent trios, ascertained through a CP case collected in an international consortium. Family based association tests of single nucleotide polymorphisms (SNP) and three common maternal exposures (maternal smoking, alcohol consumption and multivitamin supplementation) were used in a combined 2 df test for gene (G) and gene-environment (G×E) interaction simultaneously, plus a separate 1 df test for G×E interaction alone. Conditional logistic regression models were used to estimate effects on risk to exposed and unexposed children. While no SNP achieved genome wide significance when considered alone, markers in several genes attained or approached genome wide significance when G×E interaction was included. Among these, MLLT3 and SMC2 on chromosome 9 showed multiple SNPs resulting in increased risk if the mother consumed alcohol during the peri-conceptual period (3 months prior to conception through the first trimester). TBK1 on chr. 12 and ZNF236 on chr. 18 showed multiple SNPs associated with higher risk of CP in the presence of maternal smoking. Additional evidence of reduced risk due to G×E interaction in the presence of multivitamin supplementation was observed for SNPs in BAALC on chr. 8. These results emphasize the need to consider G×E interaction when searching for genes influencing risk to complex and heterogeneous disorders, such as non-syndromic CP. PMID:21618603

Epidemiology of non-syndromic cleft lip/palate in the high level natural background radiation areas (HLNRA) of the South west coast of India

International Nuclear Information System (INIS)

Jaikrishan, G.; Sudheer, K.R.; Andrews, V.J.; Koya, P.K.M.; Cheriyan, V.D.; Seshadri, M.

2010-01-01

All consecutive births in selected government hospitals in and around the high level natural background radiation areas (HLNRA) of Kerala were monitored for congenital malformations observable at birth since 1995. The HLNR area, with natural deposits of monazite sand containing thorium (8-10%) and Uranium (0.3%), is a coastal strip of land about 55 km in length and 0.5 km in breadth from Purakkad in the north in Alleppey district to Sakthikulangara in the south of Quilon district and is one among the most prominent background radiation areas of the world. Patchy and non-uniform distribution of Monazite sand causes wide variation in dose ranging from <1 to 45 mGy/year. High population density, limited migration, ethnic diversity, good literacy, health awareness, institutionalized births and acceptance of small family norm are some of the key features of the population. Areas with a mean radiation dose of more than 1.5 mGy/year were treated as HLNR areas and areas with a dose level of 1.5 mGy/year or less were treated as normal level radiation areas (NLNRA). A total of 134,178 newborns were monitored and non-syndromic cleft lip/palate (NSCLP) was detected in 143 newborns (1.07%). Cleft lip with cleft palate (59.4%) was more common than cleft lip (18.2%) or Cleft palate (22.4%) alone and 11.9% had other malformation(s) together with NSCLP. There was no evidence to suggest that NSFC was significantly associated with prevailing dose level of area of mother's residence, maternal age birth, gravida, ethnicity or consanguinity

A Comparative Study of Facial Asymmetry in Philippine, Colombian, and Ethiopian Families with Nonsyndromic Cleft Lip Palate

Directory of Open Access Journals (Sweden)

Liliana Otero

2012-01-01

Full Text Available Objective. To compare the asymmetry displayed by Philippine, Colombian, and Ethiopian unaffected parents of patients with nonsyndromic cleft palate (NSCLP and a control population. Methods. Facial measurements were compared between unaffected parents of NSCLP patients and those in the control group for three populations from South America, Asia, and Africa by anthropometric and photographic measurements. Fluctuating and directional asymmetries, height and width proportions, were analyzed and compared. Results. Fluctuating asymmetries (ear length, middle line to Zigion perpendicular for left and right sides and variations in the facial thirds demonstrated statistical significance in the study group of unaffected parents from Colombia and Philippines, while increased interorbital distance was evident in the unaffected Ethiopian parents of NSCLP patients. Conclusions. The facial differences in unaffected parents could indicate an underlying genetic liability. Identification of these differences has relevance in the understanding of the etiology of NSCLP.

PVRL1 as a Candidate Gene for Nonsyndromic Cleft Lip With or Without Cleft Palate: No Evidence for the Involvement of Common or Rare Variants in Southern Han Chinese Patients

Science.gov (United States)

Cheng, Hong-Qiu; Huang, En-Min; Xu, Ming-Yan; Shu, Shen-You

2012-01-01

The poliovirus receptor related-1 (PVRL1) gene encodes nectin-1, a cell–cell adhesion molecule (OMIM #600644), and is mutated in the cleft lip with or without cleft palate/ectodermal dysplasia-1 syndrome (CLPED1, OMIM #225000). In addition, PVRL1 mutations have been associated with nonsyndromic cleft lip with or without a cleft palate (NSCL/P) in studies of multiethnic samples. To investigate the possible involvement of this gene in southern Han Chinese NSCL/P patients, we performed (i) a case–control association study, and (ii) a resequencing study. A set of 470 patients with NSCL/P and 693 controls were recruited, and a total of 45 tagging single-nucleotide polymorphisms (SNPs) were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. In the resequencing study, the coding regions of the PVRL1 α isoform were direct sequenced in 45 trios from multiply affected families. One (rs7128327) of the 45 tested SNPs showed a trend toward statistical significance in the genotypic-level chi-square test (p=0.009567). However, this result did not withstand correction for multiple testing. Likewise, sliding window haplotype analyses consisting of two, three, or four SNPs failed to detect any positive association. Resequencing analysis also failed to identify any novel rare sequence variants. In conclusion, the present study provided no support for the hypothesis that common or rare variants in PVRL1 play a significant role in NSCL/P development in the southern Han Chinese population. This is the first study that has used tagging SNPs covering all the coding and noncoding regions to search for common NSCL/P-associated mutations of PVRL1. PMID:22455396

Assessment of folic acid and DNA damage in cleft lip and cleft palate

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Sivakumar Brooklyin

2014-03-01

Full Text Available Studies have identified the risk factors like folic acid deficiency during gestational period, family history for orofacial clefts, drugs like antiepileptic, vitamin A. But, the data regarding the folic acid status in children with cleft lip/palate is hardly evaluated in depth. Here, an assessment of folic acid and DNA damage were carried out in children with orofacial anomalies. Folic acid level and DNA damage were evaluated by folic acid assay (direct chemiluminescent technology and single cell gel electrophoresis or comet assay method respectively. The mean value of plasma folic acid by direct chemiluminescent technology was 6.5±3.6 nmol/L and the normal value in children ranges from 11.3 to 47.6 nmol/L. The amount of damaged DNA, measured as the tail length of the comet in cases, was 19.4±8.9 ?m and the mean percentage of DNA in tail was 16.5±3.7. Folic acid deficiency could be the reason for DNA damage.

MSX1 in relation to clefting. hypodontia and hydrocephaly in humans

NARCIS (Netherlands)

Boogaard, M.J.H. van den

2013-01-01

Orofacial clefting and hypodontia are both common congenital disorders with a complex etiology in which genetic and environmental factors might play a role. In the Netherlands, approximately 300 children are born annually with a cleft lip and/or palate. The occurrence of hypodontia is approximately

Psychiatric Diagnoses in Individuals with Non-Syndromic Oral Clefts

DEFF Research Database (Denmark)

Pedersen, Dorthe Almind; Wehby, George L; Murray, Jeffrey C

2016-01-01

for 247,821 person-years, and 85,653 individuals without OC followed for 2,501,129 person-years. RESULTS: A total of 953 (11.1%) of the individuals with OC (9.6% for cleft lip (CL), 10.8% for cleft lip and palate (CLP) and 13.1% for cleft palate (CP)) and 8,117 (9.5%) in the comparison group had at least...... one psychiatric diagnosis. Cox proportional hazard regression model revealed that individuals with OC had significantly higher risk of a psychiatric diagnosis (hazard ratio (HR) = 1.19, 95% CI: 1.12-1.28). When examining cleft type, no difference was found for CL (HR = 1.03, 95% CI: 0.......90-1.17), but CLP was associated with a small increased risk (HR = 1.13, 95% CI: 1.01-1.26), whereas individuals with CP had the largest increased risk (HR = 1.45, 95% CI: 1.30-1.62). The largest differences were found in schizophrenia-like disorders, mental retardation and pervasive developmental disorders, but we...

Children with Diagnoses of Cleft Lip and/or Palate: What School Psychologists Need to Know

Science.gov (United States)

Kowalewicz, Eva Aleksandra; Ausikaitis, Ashley Etzel; Kapp-Simon, Kathleen A.

2016-01-01

This article presents a review of the literature on orofacial clefting in children. The authors review the etiology, prevalence, and variations of clefting as well as issues related to neuropsychological, social, academic, emotional, and behavioral functioning of children with clefts. Finally, the authors discuss the implications for school…

Management of Commonly Encountered Secondary Cleft Deformities of Face-A Case Series

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Jacob John

2017-10-01

Full Text Available Orofacial clefts are one of the commonest congenital deformities occurring due to disturbances during the embryological formation, development and growth of orofacial region. The treatment of cleft deformities in the early period of life is mandatory to address the aesthetic, functional and psychological problems affecting the child. A considerable number of surgical modalities for definitive correction of unilateral and bilateral cleft lip, nose, and eyelid deformities have been reported over the past half century. After the initial cleft repair, there is a long period of dramatic growth. This powerful variable of growth may ultimately distort the immediate surgical result. Hence, the correction of secondary deformities plays a very important part in the care of these patients. In this article we are enlisting some simple techniques to correct the commonly encountered secondary cleft deformities of face that gave acceptable results to the patients. These corrective surgeries not only improved the function and aesthetics but also increased the confidence level, satisfaction and overall quality of life of the patient.

Maternal Transmission Effect of a PDGF-C SNP on Nonsyndromic Cleft Lip with or without Palate from a Chinese Population

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Wang, Xingang; Yin, Ningbei; Song, Tao; Li, Haidong; Zhang, Feng; Zhang, Yongbiao; Ye, Zhenqing; Yu, Jun; Wang, Duen-Mei; Zhao, Zhenmin

2012-01-01

Cleft lip with or without palate (CL/P) is a common congenital anomaly with a high birth prevalence in China. Based on a previous linkage signal of nonsyndromic CL/P (NSCL/P) on the chromosomal region 4q31–q32 from the Chinese populations, we screened the 4q31–q32 region for susceptibility genes in 214 trios of Han Chinese. PDGF-C, an important developmental factor, resides in the region and has been implicated in NSCL/P. However, in our family-based association test (transmission disequilibrium test; TDT), we could not conclude an association between PDGF-C and NSCL/P as previously suggested. Instead, we found strong evidence for parent-of-origin effect at a PDGF-C SNP, rs17035464, by a likelihood ratio test (unadjusted p-value = 0.0018; Im = 2.46). The location of rs17035464 is 13 kb downstream of a previously reported, NSCL/P-associated SNP, rs28999109. Furthermore, a patient from our sample trios was observed with a maternal segmental uniparental isodisomy (UPD) in a region containing rs17035464. Our findings support the involvement of PDGF-C in the development of oral clefts; moreover, the UPD case report contributes to the collective knowledge of rare variants in the human genome. PMID:23029525

Prevalence of dental anomalies in children with cleft lip and unilateral and bilateral cleft lip and palate.

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Rullo, R; Festa, V M; Rullo, R; Addabbo, F; Chiodini, P; Vitale, M; Perillo, L

2015-09-01

To examine the prevalence of different types of dental anomalies in children with nonsyndromic cleft lip, unilateral cleft lip-palate, and bilateral cleft lip-palate. A sample of 90 patients (aged 4-20 years) affected by isolated cleft lip, unilateral and bilateral cleft lip and palate was examined. Cleft patients were classified into one of three groups according to cleft type: (1) Unilateral Cleft Lip-Palate, (2) Bilateral Cleft Lip-Palate, and (3) Cleft Lip. Intraoral exams, panoramic radiographs and dental casts, were used to analyse the prevalence of the various dental anomalies included in this study. There were no statistically significant differences between patients with cleft lip, unilateral cleft lip and palate and bilateral cleft lip and palate. The congenital absence of the cleft-side lateral incisor was observed in 40% of the sample, and a total of 30% patients showed supernumerary teeth at the incisors region. Second premolar agenesis was found in 4.4% of patients, whereas in 18.9% of the sample there was an ectopic dental eruption. Lateral or central incisors rotation was noted in 31.1% of the sample, while shape anomaly, lateral incisor microdontia, and enamel hypoplasia were detected respectively in 25.6%, 5.6% and 18.9% of cleft patients. High prevalence of different dental anomalies in children with cleft lip and unilateral and bilateral cleft lip and palate has been confirmed. This study, in particular, shows the presence of ectopic and rotated teeth in the cleft area.

A new approach to chromosome-wide analysis of X-linked markers identifies new associations in Asian and European case-parent triads of orofacial clefts.

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Øivind Skare

Full Text Available GWAS discoveries on the X-chromosome are underrepresented in the literature primarily because the analytical tools that have been applied were originally designed for autosomal markers. Our objective here is to employ a new robust and flexible tool for chromosome-wide analysis of X-linked markers in complex traits. Orofacial clefts are good candidates for such analysis because of the consistently observed excess of females with cleft palate only (CPO and excess of males with cleft lip with or without cleft palate (CL/P.Genotypes for 14,486 X-chromosome SNPs in 1,291 Asian and 1,118 European isolated cleft triads were available from a previously published GWAS. The R-package HAPLIN enables genome-wide-level analyses as well as statistical power simulations for a range of biologic scenarios. We analyzed isolated CL/P and isolated CPO for each ethnicity in HAPLIN, using a sliding-window approach to haplotype analysis and two different statistical models, with and without X-inactivation in females.There was a larger number of associations in the Asian versus the European sample, and similar to previous reports that have analyzed the same GWAS dataset using different methods, we identified associations with EFNB1/PJA1 and DMD. In addition, new associations were detected with several other genes, among which KLHL4, TBX22, CPXCR1 and BCOR were noteworthy because of their roles in clefting syndromes. A few of the associations were only detected by one particular X-inactivation model, whereas a few others were only detected in one sex.We found new support for the involvement of X-linked variants in isolated clefts. The associations were specific for ethnicity, sex and model parameterization, highlighting the need for flexible tools that are capable of detecting and estimating such effects. Further efforts are needed to verify and elucidate the potential roles of EFNB1/PJA1, KLHL4, TBX22, CPXCR1 and BCOR in isolated clefts.

Nonsyndromic cleft lip with or without cleft palate: New BCL3 information

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Amos, C.; Hecht, J.T. [Univ. of Texas Medical School, Houston, TX (United States); Gasser, D. [Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States)

1996-09-01

We did not previously provide LOD scores for linkage assuming heterogeneity, as suggested by Ott for the linkage analysis of cleft lip with or without cleft palate (CL/P) and BCL3, ApoC2, and D19S178 in the paper by Stein et al. The results from analysis using the HOMOG program, allowing for heterogeneity under the reduced penetrance model, gave a maximum LOD score of 1.85 for ApoC2, 0.41 for BCL3, 0.03 for D19S178, and 1.72 for multipoint analysis in the interval. For the affecteds-only model, the values are 1.96 for ApoC2, 0.41 for BCL3, 0.01 for D19S178, and 1.44 for the multipoint analysis. 8 refs.

Breeding experiments and genome-wide association analysis elucidate two genetically different forms of non-syndromic congenital cleft lip and jaw in Vorderwald × Montbéliarde cattle.

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Reinartz, S; Distl, O

2017-10-01

Non-syndromic congenital cleft lip and jaw (CLJ) is a condition reported in Vorderwald × Montbéliarde cattle. The objective of the present study was to perform a genome-wide association study (GWAS) for 10 CLJ-affected and 50 unaffected Vorderwald × Montbéliarde cattle using the bovine Illumina high density bead chip to identify loci for this condition. Phenotypic classification of CLJ was based on a detailed recording of orofacial structures using computed tomography. A breeding experiment among CLJ-affected Vorderwald × Montbéliarde cattle and CLJ-affected Vorderwald × Montbéliarde cattle with unaffected Holsteins confirmed recessive inheritance and different loci for bilateral or left-sided versus right-sided CLJ. The GWAS for the five cases with right-sided CLJ gave a genome-wide signal on bovine chromosome (BTA) 29 at 16 Mb. For the four left-sided and one bilateral CLJ case, a genome-wide significant association was identified on BTA4 at 32 Mb. Two different loci are very likely to be involved in CLJ in Vorderwald × Montbéliarde cattle because experimental matings among affected cows and bulls with different types of CLJ did not result in CLJ-affected progeny, and in addition, two different loci were also found through GWAS and mapped on two different bovine chromosomes. Validation in 346 Vorderwald × Montbéliarde cattle for the highly associated SNPs on BTA4 and 29 gave ratios of 33/346 (0.095, BTA4) and 6/346 (0.017, BTA29) homozygous mutant genotypes. Further studies should elucidate the responsible mutations underlying the different types of CLJ in Vorderwald × Montbéliarde cattle. © 2017 Stichting International Foundation for Animal Genetics.

The Primary Care Pediatrician and the Care of Children With Cleft Lip and/or Cleft Palate.

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Lewis, Charlotte W; Jacob, Lisa S; Lehmann, Christoph U

2017-05-01

Orofacial clefts, specifically cleft lip and/or cleft palate (CL/P), are among the most common congenital anomalies. CL/P vary in their location and severity and comprise 3 overarching groups: cleft lip (CL), cleft lip with cleft palate (CLP), and cleft palate alone (CP). CL/P may be associated with one of many syndromes that could further complicate a child's needs. Care of patients with CL/P spans prenatal diagnosis into adulthood. The appropriate timing and order of specific cleft-related care are important factors for optimizing outcomes; however, care should be individualized to meet the specific needs of each patient and family. Children with CL/P should receive their specialty cleft-related care from a multidisciplinary cleft or craniofacial team with sufficient patient and surgical volume to promote successful outcomes. The primary care pediatrician at the child's medical home has an essential role in making a timely diagnosis and referral; providing ongoing health care maintenance, anticipatory guidance, and acute care; and functioning as an advocate for the patient and a liaison between the family and the craniofacial/cleft team. This document provides background on CL/P and multidisciplinary team care, information about typical timing and order of cleft-related care, and recommendations for cleft/craniofacial teams and primary care pediatricians in the care of children with CL/P. Copyright © 2017 by the American Academy of Pediatrics.

Long-Term Follow-Up Study of Young Adults Treated for Unilateral Complete Cleft Lip, Alveolus, and Palate by a Treatment Protocol Including Two-Stage Palatoplasty: Speech Outcomes.

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Kappen, Isabelle Francisca Petronella Maria; Bittermann, Dirk; Janssen, Laura; Bittermann, Gerhard Koendert Pieter; Boonacker, Chantal; Haverkamp, Sarah; de Wilde, Hester; Van Der Heul, Marise; Specken, Tom Fjmc; Koole, Ron; Kon, Moshe; Breugem, Corstiaan Cornelis; Mink van der Molen, Aebele Barber

2017-05-01

No consensus exists on the optimal treatment protocol for orofacial clefts or the optimal timing of cleft palate closure. This study investigated factors influencing speech outcomes after two-stage palate repair in adults with a non-syndromal complete unilateral cleft lip and palate (UCLP). This was a retrospective analysis of adult patients with a UCLP who underwent two-stage palate closure and were treated at our tertiary cleft centre. Patients ≥17 years of age were invited for a final speech assessment. Their medical history was obtained from their medical files, and speech outcomes were assessed by a speech pathologist during the follow-up consultation. Forty-eight patients were included in the analysis, with a mean age of 21 years (standard deviation, 3.4 years). Their mean age at the time of hard and soft palate closure was 3 years and 8.0 months, respectively. In 40% of the patients, a pharyngoplasty was performed. On a 5-point intelligibility scale, 84.4% received a score of 1 or 2; meaning that their speech was intelligible. We observed a significant correlation between intelligibility scores and the incidence of articulation errors (Pspeech assessment, and 11%-17% of the patients exhibited increased nasalance scores, assessed through nasometry. The present study describes long-term speech outcomes after two-stage palatoplasty with hard palate closure at a mean age of 3 years old. We observed moderate long-term intelligibility scores, a relatively high incidence of persistent hypernasality, and a high pharyngoplasty incidence.

Cleft palate with/without cleft lip in French children: radiographic evaluation of prevalence, location and coexistence of dental anomalies inside and outside cleft region.

Science.gov (United States)

Mangione, Francesca; Nguyen, Laure; Foumou, Nathalie; Bocquet, Emmanuelle; Dursun, Elisabeth

2018-03-01

Prevalence of dental anomalies in cleft patients is higher than that in general population. The objectives of this study were to assess the prevalence of dental anomalies and their coexistence in French children with cleft and, then, to investigate the relation between the dental anomalies and the cleft type. Seventy-four non-syndromic cleft patients (6-16 years old) from Lille Regional University and Mondor-Chenevier Hospitals (France) were included. Clefts were classified as right/left unilateral cleft lip and palate (UCLP), bilateral cleft lip and palate (BCLP) and cleft palate (CP). Dental anomalies were investigated on panoramic radiographs and categorized as agenesis, supernumerary teeth, incisor rotations, impacted canines and shape anomalies. Prevalence and gender distribution of dental anomalies, mean number of affected teeth per patient, agenesis occurrence and location, and coexistence of dental anomalies were analysed by cleft type. 96.0% of patients presented at least one dental anomaly (agenesis 83.8%, incisor rotations 25.7%, shape anomalies 21.6%, impacted canines 18.9%, supernumerary teeth 8.1%). BCLP patients had a higher number of affected teeth, and left UCLP patients had a higher one compared to right UCLP patients. Distribution of inside (45.3%) and outside (54.7%) cleft region agenesis was similar. Adjacent (31.8%) and not adjacent (33.3%) combined dental anomalies were often encountered. Dental anomalies were localized inside as well as outside cleft region and were often associated with each other. BCLP patients were more affected. Early radiographic evaluation allows a comprehensive diagnosis of inside and outside cleft region anomalies, required for the multidisciplinary dental treatment.

MSX1 in relation to clefting. hypodontia and hydrocephaly in humans

OpenAIRE

Boogaard, M.J.H. van den

2013-01-01

Orofacial clefting and hypodontia are both common congenital disorders with a complex etiology in which genetic and environmental factors might play a role. In the Netherlands, approximately 300 children are born annually with a cleft lip and/or palate. The occurrence of hypodontia is approximately 5,5 % in the general population. The general aim of this thesis is to expand the knowledge on the genetic basis of clefting and hypodontia and in this way to improve diagnostics and genetic counsel...

Psychosocial Aspects of Cleft Lip and Palate: Implications for Parental Education. Research Report 138.

Science.gov (United States)

Kalland, Mirjam

This study focused on the psychosocial aspects of cleft lip and/or palate on maternal emotional reactions and the family, with emphasis on the effect on the maternal-infant bond. Interviews were conducted with 40 mothers of 1-year-old infants with non-syndromic cleft lip and/or palate. The interviews were analyzed using the phenomenological…

Incidence of Congenital Heart Diseases Anomalies in Newborns with Oral Clefts, Zahedan, Iran

OpenAIRE

Noor Mohammad Noori; Alireza Teimouri; Tahereh Boryri; Sirous Risbaf Fakour; Fateme Shahramian

2016-01-01

Background Oral cleft is the most common orofacial congenital anomaly among live births. This anomaly at birth is one of the main causes of children disability and mortality.  Congenital heart disease (CHD) is one of the most common anomalies in oral clefts.  This study aimed to assess the incidence of congenital heart diseases anomalies in newborns with oral clefts. Materials and Methods This study performed on 48,692 live born to estimate incidence of oral clefts from 1 st December 2013 to ...

A rare nonsyndromic presentation of bilateral doughnut shaped lip pits in an Indian child

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Senthil Balasubramani

2016-01-01

Full Text Available Lip pits are a rare congenital anomaly that presents on the upper or lower lip or the commissure of the lips. Lip pits are an autosomal dominant trait occurring almost always in association with cleft lip or palate. They most commonly occur in association with developmental disturbances such as Van der Woude's syndrome, popliteal pterygium syndrome, oro-facial-digital syndrome, Marres-Cremers syndrome, and Hirschsprung disease. Its occurrence in nonsyndromic individuals is extremely rare with only a handful of cases reported. The identification of lip pits with other associated anomalies is crucial for genetic counseling; we report a case of nonsyndromic presentation of bilateral lip pits.

Ankyloglossia with cleft lip: A rare case report

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Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

2015-01-01

Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development. PMID:26941523

Ankyloglossia with cleft lip: A rare case report

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Kritika Jangid

2015-01-01

Full Text Available Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development.

Cleft lip with or without cleft palate in Shanghai, China: Evidence for an autosomal major locus

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Marazita, M.L. (Virginia Commonwealth Univ., Richmond, VA (United States)); Hu, Dan-Ning; Liu, You-E. (Zhabei Eye Institute, Shanghai (China)); Spence, A. (Univ. of California, Los Angeles, CA (United States)); Melnick, M. (Univ. of Southern California, Los Angeles, CA (United States))

1992-09-01

Orientals are at higher risk for cleft lip with our without cleft palate (CL[+-] P) than Caucasians or blacks. The authors collected demographic and family data to study factors contributing to the etiology of CL[+-]P in Shanghai. The birth incidence of nonsyndromic CL[+-]P (SHanghai 1980-87) was 1.11/1,000, with a male/female ratio of 1.42. Almost 2,000 nonsyndromic CL[+-]P probands were ascertained from individuals operated on during the years 1956-83 at surgical hospitals in Shanghai. Detailed family histories and medical examinations were obtained for the probands and all available family members. Genetic analysis of the probands' families were performed under the mixed model with major locus (ML) and multifactorial (MFT) components. The hypothesis of no familial transmission and of MFT alone could be rejected. Of the ML models, the autosomal recessive was significantly most likely and was assumed for testing three complex hypothesis: (1) ML and sporadics; (2) ML and MFT; (3) ML, MFT, and sporadics. None of the complex models were more likely than the ML alone model. In conclusion, the best-fitting, most parsimonious model for CL[+-]P in Shanghai was that of an autosomal recessive major locus. 37 refs., 1 tab.

[Interdisciplinary orthodontic surgical treatment of children with cleft lip and palate from 9 to 20 years of age

NARCIS (Netherlands)

Kuijpers-Jagtman, A.M.; Molen, A.B. van der; Bierenbroodspot, F.; Borstlap, W.A.

2015-01-01

Cleft lip and palate is a common congenital malformation with a prevalence of 1:600 newborns. Children with orofacial clefts are treated by an interdisciplinary team of specialists while parents and child play a key role in their own care process. The orthodontic and facial orthopedic treatment of a

Dental arch relationship in children with complete unilateral cleft lip and palate following warsaw (one-stage repair) and oslo protocols.

NARCIS (Netherlands)

Fudalej, P.S.; Hortis-Dzierzbicka, M.; Dudkiewicz, Z.; Semb, G.

2009-01-01

OBJECTIVE: To compare the dental arch relationship following one-stage repair of unilateral cleft lip and palate (UCLP) in Warsaw with a matched sample of patients treated by the Oslo Cleft Team. MATERIAL: Study models of 61 children (mean age, 11.2; SD, 1.7) with a nonsyndromic complete UCLP

Correlations between initial cleft size and dental anomalies in unilateral cleft lip and palate patients after alveolar bone grafting.

Science.gov (United States)

Jabbari, Fatima; Reiser, Erika; Thor, Andreas; Hakelius, Malin; Nowinski, Daniel

2016-01-01

Objective To determine in individuals with unilateral cleft lip and palate the correlation between initial cleft size and dental anomalies, and the outcome of alveolar bone grafting. Methods A total of 67 consecutive patients with non-syndromic unilateral complete cleft lip and palate (UCLP) were included from the cleft lip and palate-craniofacial center, Uppsala University Hospital, Sweden. All patients were operated by the same surgeon and treated according to the Uppsala protocol entailing: lip plasty at 3 months, soft palate closure at 6 months, closure of the residual cleft in the hard palate at 2 years of age, and secondary alveolar bone grafting (SABG) prior to the eruption of the permanent canine. Cleft size was measured on dental casts obtained at the time of primary lip plasty. Dental anomalies were registered on radiographs and dental casts obtained before bone grafting. Alveolar bone height was evaluated with the Modified Bergland Index (mBI) at 1 and 10-year follow-up. Results Anterior cleft width correlated positively with enamel hypoplasia and rotation of the central incisor adjacent to the cleft. There was, however, no correlation between initial cleft width and alveolar bone height at either 1 or 10 years follow-up. Conclusions Wider clefts did not seem to have an impact on the success of secondary alveolar bone grafting but appeared to be associated with a higher degree of some dental anomalies. This finding may have implications for patient counseling and treatment planning.

Supernumerary teeth in non-syndromic patients

International Nuclear Information System (INIS)

Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh

2012-01-01

Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

The financial impact of unrepaired cleft lip and palate in the Philippines.

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Muntz, Harlan R; Meier, Jeremy D

2013-12-01

There are over 96 million people in the Philippines. Close to 77 thousand persons in this country have orofacial clefting. We estimate nearly 64 thousand are unrepaired. Unemployment and underemployment because of the communication disorders associated with unrepaired clefts will affect family income and hence tax revenues. The purpose of this study is to understand the financial impact of unrepaired cleft lip and/or palate on families and identify how that would translate to the Philippine government in tax revenues. The incidence of orofacial cleft in the Philippines was estimated to be at least 1 in 750 people, with only 16% anticipated to be repaired under current conditions. Assuming a 21% unemployment rate in subjects with untreated clefts, and a tax rate of 6-12.4%, projected lost personal income and federal tax revenue was calculated. In 2012 alone the financial impact on the families may be as much as $US 73-88 million in lost revenue from unemployment and underemployment. This would cost the government between $8.0 and $9.8 million dollars in lost tax revenue. Over a 20 year period at least $US 1.7 billion dollars in family income would be affected costing the government at least $US 194 million in taxes. By appropriately caring for the cleft population tax revenues should increase substantially. The development of the infrastructure for surgical care of this problem would be costly but could be more than offset by revenues. Inattention to surgically correctable causes of communication disorders is not affordable. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Related risk factors of cleft lip and palate in a group of infants born in Tehran (2012-2015

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R.Hamedi

2017-10-01

Full Text Available Background: Cleft lip and palate is one of the most common congenital anomalies. The etiology of non syndromic orofacial clefts is multifactorial. Objective: The aim of this study was to evaluate the related risk factors of cleft lip and palate in a group of infants born in Tehran during the years between 2012-2015. Methods: In this case-control study the files of 105 newborns with oral clefts, and 218 normal newborns as control group with their mothers were evaluated in Mofid Hospital in Tehran. Data were analyzed by Chi-square test. Findings: Among 105 cases, 40 cases (38% were females and 65 cases (62% were males. The frequency of cleft lip and palate, cleft palate and cleft lip were 58%, 27.6% and 14.2% respectively. A significant relationship was found between parents with familial marriage (P=0.001. The highest number of clefts belonged to 25-35 year-old mothers (51.4%, 41% of mothers reported smoking during pregnancy thus maternal smoking would be an effective predisposing factor to have a child with oral clefts (P=0.001. Conclusion: The results of this study indicate that history of familial matrimony, mother’s age above 35 years and maternal smoking during pregnancy can enhance the risk of orofacial clefts 18, 17 and 14 times respectively. These findings emphasize the importance of preconception counseling of mothers-to-be on amendable lifestyle factors in order to reduce the birth prevalence of cleft lip/palate in future generations.

An evaluation of surgical outcome of bilateral cleft lip surgery using a modified Millard′s (Fork Flap technique

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W L Adeyemo

2013-01-01

Full Text Available Background: The central third of the face is distorted by the bilateral cleft of the lip and palate and restoring the normal facial form is one of the primary goals for the reconstructive surgeons. The history of bilateral cleft lip repair has evolved from discarding the premaxilla and prolabium and approximating the lateral lip elements to a definitive lip and primary cleft nasal repair utilising the underlying musculature. The aim of this study was to review surgical outcome of bilateral cleft lip surgery (BCLS done at the Lagos University Teaching Hospital. Materials and Methods: A review of all cases of BCLS done between January 2007 and December 2012 at the Lagos University Teaching Hospital was done. Data analysis included age and sex of patients, type of cleft deformity and type of surgery (primary or secondary and whether the cleft deformity was syndromic and non-syndromic. Techniques of repair, surgical outcome and complications were also recorded. Results: A total of 39 cases of BCLS involving 21 males and 18 females were done during the period. This constituted 10% (39/390 of all cases of cleft surgery done during the period. There were 5 syndromic and 34 non-syndromic cases. Age of patients at time of surgery ranged between 3 months and 32 years. There were 24 bilateral cleft lip and palate deformities and 15 bilateral cleft lip deformities. Thirty-one of the cases were primary surgery, while 8 were secondary (revision surgery. The most common surgical technique employed was modified Fork flap (Millard technique, which was employed in 37 (95% cases. Conclusion: Bilateral cleft lip deformity is a common cleft deformity seen in clinical practice, surgical repair of which can be a challenge to an experienced surgeon. A modified Fork flap technique for repair of bilateral cleft lip is a reliable and versatile technique associated with excellent surgical outcome.

Spectral Analysis of Word-Initial Alveolar and Velar Plosives Produced by Iranian Children with Cleft Lip and Palate

Science.gov (United States)

Eshghi, Marziye; Zajac, David J.; Bijankhan, Mahmood; Shirazi, Mohsen

2013-01-01

Spectral moment analysis (SMA) was used to describe voiceless alveolar and velar stop-plosive production in Persian-speaking children with repaired cleft lip and palate (CLP). Participants included 11 children with bilateral CLP who were undergoing maxillary expansion and 20 children without any type of orofacial clefts. Four of the children with…

Dental Anomalies in a Brazilian Cleft Population.

Science.gov (United States)

Sá, Jamile; Mariano, Lorena C; Canguçu, Daiane; Coutinho, Thaynara S L; Hoshi, Ryuichi; Medrado, Alena Peixoto; Martelli-Junior, Hercílio; Coletta, Ricardo D; Reis, Silvia R A

2016-11-01

  The aim of this study was to radiographically investigate the prevalence of dental anomalies outside the cleft area in a group of Brazilian patients with nonsyndromic cleft lip and/or palate (NSCL/P).   A retrospective analysis of 207 panoramic radiographs of patients with NSCL/P aged 12 to 45 years without history of tooth extraction and orthodontic treatment was performed.   Dental anomalies were found in 75.4% of the patients, and tooth agenesis (29.2%) and supernumerary tooth (2.6%) were the most common anomalies. The risk of agenesis was higher among the individuals with cleft palate (CP) compared with individuals with cleft lip (CL) and cleft lip and palate (CLP) (agenesis: CP versus CL: odds ratio 6.27, 95% confidence interval 2.21-17.8, P = .0003; CP versus CLP: odds ratio 2.94; 95% confidence interval 1.27-6.81, P = .01). The frequency of dental agenesis was higher in patients with unilateral complete CLP (agenesis: P dental agenesis (P dental anomalies in patients with NSCL/P was higher than that reported in overall population. This study found preferential associations between dental anomalies and specific extensions of NSCL/P, suggesting that dental agenesis and ectopic tooth may be part of oral cleft subphenotypes.

Long-Term Follow-Up Study of Young Adults Treated for Unilateral Complete Cleft Lip, Alveolus, and Palate by a Treatment Protocol Including Two-Stage Palatoplasty: Speech Outcomes

Directory of Open Access Journals (Sweden)

Isabelle Francisca Petronella Maria Kappen

2017-05-01

Full Text Available BackgroundNo consensus exists on the optimal treatment protocol for orofacial clefts or the optimal timing of cleft palate closure. This study investigated factors influencing speech outcomes after two-stage palate repair in adults with a non-syndromal complete unilateral cleft lip and palate (UCLP.MethodsThis was a retrospective analysis of adult patients with a UCLP who underwent two-stage palate closure and were treated at our tertiary cleft centre. Patients ≥17 years of age were invited for a final speech assessment. Their medical history was obtained from their medical files, and speech outcomes were assessed by a speech pathologist during the follow-up consultation.ResultsForty-eight patients were included in the analysis, with a mean age of 21 years (standard deviation, 3.4 years. Their mean age at the time of hard and soft palate closure was 3 years and 8.0 months, respectively. In 40% of the patients, a pharyngoplasty was performed. On a 5-point intelligibility scale, 84.4% received a score of 1 or 2; meaning that their speech was intelligible. We observed a significant correlation between intelligibility scores and the incidence of articulation errors (P<0.001. In total, 36% showed mild to moderate hypernasality during the speech assessment, and 11%–17% of the patients exhibited increased nasalance scores, assessed through nasometry.ConclusionsThe present study describes long-term speech outcomes after two-stage palatoplasty with hard palate closure at a mean age of 3 years old. We observed moderate long-term intelligibility scores, a relatively high incidence of persistent hypernasality, and a high pharyngoplasty incidence.

Long-Term Follow-Up Study of Young Adults Treated for Unilateral Complete Cleft Lip, Alveolus, and Palate by a Treatment Protocol Including Two-Stage Palatoplasty: Speech Outcomes

Science.gov (United States)

Bittermann, Dirk; Janssen, Laura; Bittermann, Gerhard Koendert Pieter; Boonacker, Chantal; Haverkamp, Sarah; de Wilde, Hester; Van Der Heul, Marise; Specken, Tom FJMC; Koole, Ron; Kon, Moshe; Breugem, Corstiaan Cornelis; Mink van der Molen, Aebele Barber

2017-01-01

Background No consensus exists on the optimal treatment protocol for orofacial clefts or the optimal timing of cleft palate closure. This study investigated factors influencing speech outcomes after two-stage palate repair in adults with a non-syndromal complete unilateral cleft lip and palate (UCLP). Methods This was a retrospective analysis of adult patients with a UCLP who underwent two-stage palate closure and were treated at our tertiary cleft centre. Patients ≥17 years of age were invited for a final speech assessment. Their medical history was obtained from their medical files, and speech outcomes were assessed by a speech pathologist during the follow-up consultation. Results Forty-eight patients were included in the analysis, with a mean age of 21 years (standard deviation, 3.4 years). Their mean age at the time of hard and soft palate closure was 3 years and 8.0 months, respectively. In 40% of the patients, a pharyngoplasty was performed. On a 5-point intelligibility scale, 84.4% received a score of 1 or 2; meaning that their speech was intelligible. We observed a significant correlation between intelligibility scores and the incidence of articulation errors (P<0.001). In total, 36% showed mild to moderate hypernasality during the speech assessment, and 11%–17% of the patients exhibited increased nasalance scores, assessed through nasometry. Conclusions The present study describes long-term speech outcomes after two-stage palatoplasty with hard palate closure at a mean age of 3 years old. We observed moderate long-term intelligibility scores, a relatively high incidence of persistent hypernasality, and a high pharyngoplasty incidence. PMID:28573094

Autogenous Tooth Transplantation In Adult Orofacial Cleft Deformity ...

African Journals Online (AJOL)

A case of autotransplantation of a tooth in a 26 year old female African cleft palate patient is reported. This case report emphasizes the possibility and success of autotransplantation in our centre, it also emphasizes that transplantation is only technique sensitive but less equipment sensitive. It further stresses that an ...

Nasal Airway Dysfunction in Children with Cleft Lip and Cleft Palate: Results of a Cross-Sectional Population-Based Study, with Anatomical and Surgical Considerations.

Science.gov (United States)

Sobol, Danielle L; Allori, Alexander C; Carlson, Anna R; Pien, Irene J; Watkins, Stephanie E; Aylsworth, Arthur S; Meyer, Robert E; Pimenta, Luiz A; Strauss, Ronald P; Ramsey, Barry L; Raynor, Eileen; Marcus, Jeffrey R

2016-12-01

The aesthetic aspects of the cleft lip nasal deformity have been appreciated for over a century, but the functional implications have remained largely underappreciated or misunderstood. This study describes the frequency and severity of nasal obstructive symptoms among children with cleft lip and/or cleft palate, addressing the hypotheses that age, cleft type, and severity are associated with the development of nasal obstructive symptoms. Children with nonsyndromic cleft lip and/or cleft palate and a comparison group of unaffected children born from 1997 to 2003 were identified through the North Carolina Birth Defects Monitoring Program and birth certificates. Nasal airway obstruction was measured using the validated Nasal Obstruction Symptom Evaluation scale. The survey was completed by parental proxy for 176 children with cleft lip and/or cleft palate and 333 unaffected children. Nasal obstructive symptoms were more frequently reported in cleft lip with cleft palate compared with unaffected children (p cleft lip with or without alveolus and isolated cleft palate were not statistically different from unaffected children. Patients with unilateral cleft lip with cleft palate were found to be more severely affected than bilateral cases. Nasal obstruction was observed in early childhood, although severity worsened in adolescence. This population-based study reports a high prevalence of nasal obstructive symptoms in children with cleft lip and/or cleft palate based on type and severity of the cleft. The authors encourage cleft teams to consider using this or similar screening methods to identify which children may benefit from functional rhinoplasty. Risk, I.

Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: A subphenotype analysis using two population-based studies of orofacial clefts in scandinavia

DEFF Research Database (Denmark)

Jugessur, Astanand; Shi, Min; Gjessing, Håkon Kristian

2010-01-01

BACKGROUND: Cleft lip only (CLO) and cleft lip and palate (CLP) are commonly regarded as variants of the same defect and are traditionally combined to form the single group of cleft lip with or without cleft palate (CL/P) prior to analysis. However, recent data have suggested that at least a subg...

Supernumerary teeth in non-syndromic patients

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Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh [Nair Hospital Dental College, Maharashtra (India)

2012-03-15

Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

Long-term effects of palate repair on craniofacial morphology in patients with unilateral cleft lip and palate.

Science.gov (United States)

Liao, Yu-Fang; Mars, Michael

2005-11-01

To identify the long-term effects of palate repair on craniofacial growth in patients with unilateral cleft lip and palate (UCLP). Retrospective cross-sectional study. Sri Lankan Cleft Lip and Palate Project. Forty-eight adults with nonsyndromic unilateral cleft lip and palate, 29 men and 19 women, had lip repair only (LRO group). Fifty-eight adults with nonsyndromic unilateral cleft lip and palate, 35 men and 23 women, had lip and palate repairs by the age of 9 (LPR group). Clinical notes were used to record surgical treatment histories. Cephalometry was used to determine craniofacial morphology. In the lip and palate repair group, the depth of the bony pharynx (Ba-PMP), the maxillary length at the alveolar level (PMP-A), the effective length of the maxilla (Ar-IZ, Ar-ANS, Ar-A), the maxillary protrusion (S-N-ANS, SNA), the anteroposterior jaw relation (ANS-N-Pog, ANB), and the overjet were smaller than in the lip repair only group. There were no significant differences in the maxillary length at the basal level (PMP-IZ, PMP-ANS) and the anterior and posterior maxillary heights (N-ANS and R-PMP, respectively) in the two groups. Palate repair inhibits the forward displacement of the basal maxilla and anteroposterior development of the maxillary dentoalveolus in patients with unilateral cleft lip and palate. Palate repair has no detrimental effects on the downward displacement of the basal maxilla or on palatal remodeling in patients with unilateral cleft lip and palate.

Cleft lip and palate: series of unusual clinical cases.

Science.gov (United States)

Paranaíba, Lívia Máris Ribeiro; Miranda, Roseli Teixeira de; Martelli, Daniella Reis Barbosa; Bonan, Paulo Rogério Ferreti; Almeida, Hudson de; Orsi Júnior, Julian Miranda; Martelli Júnior, Hercílio

2010-01-01

Cleft lip and/or palate (CL/P) represent the most common congenital anomalies of the face, corresponding to approximately 65% of all malformations of the craniofacial region. to describe unusual clinical cases of non-syndromic CL/P (CL/PNS), diagnosed in a reference service in Minas Gerais, Brazil, and correlate these alterations with possible risk factors. we carried out a retrospective study, between the years of 1992 and the 1st half of 2009, from medical records. Among the 778 cases of CL/PNS diagnosed in the period of 17 years, 5 (0.64%) were unusual CL/PNS, and all patients were male. It was found that among the 5 patients, 2 had incomplete right cleft lip with incomplete cleft palate, 2 were affected by left incomplete cleft lip and incomplete cleft palate, and 1 had a cleft lip and palate associated with complete right cleft palate. Risk factors such as consanguinity, maternal smoking and alcohol consumption, medication usage during pregnancy, history of abortion and/or stillbirths and maternal diseases were not associated with unusual CL/PNS. This study described 5 unusual cases of CL/PNS in a Brazilian population; no associations with the risk factors analyzed were seen. It also confirmed the unusualness of the prevalence of such alterations.

Multidisciplinary Cleft Palate Program at BC Children's Hospital: Are We Meeting the Standards of Care?

Science.gov (United States)

Dahiya, Anita; Courtemanche, Rebecca; Courtemanche, Douglas J

2018-05-01

To characterize current Cleft Palate Program (CPP) practices and evaluate the timeliness of appointments with respect to patient age and diagnosis based on American Cleft Palate-Craniofacial Association (ACPA) population guidelines and CPP patient-specific recommendations. A retrospective review of CPP patient appointments from November 6, 2012, to March 31, 2015, was done. Data were analyzed using descriptive and inferential statistics. The study was conducted using data from the CPP at BC Children's Hospital. A total of 1214 appointments were considered in the analysis, including syndromic and nonsyndromic patients of 0 to 27 years of age. Percentage of patients meeting follow-up targets by ACPA standards and CPP team recommendations. Our results showed patients 5 years and younger or nonsyndromic were more likely to be seen on time ( P meeting ACPA guidelines for timeliness and 32% of all appointments meeting CPP recommendations. Timely care for the cleft/craniofacial patient populations represents a challenge for the CPP. Although half of patients may meet the general ACPA guidelines, only 32% of patients are meeting the CPP patient-specific recommendations. To provide better patient care, future adjustments are needed, which may include improved resource allotment and program support.

Association between alleles of the transforming growth factor alpha locus and cleft lip and palate in the Chilean population

Energy Technology Data Exchange (ETDEWEB)

Jara, L.; Blanco, R.; Chiffelle, I. [Univ. of Chile, Santiago (Chile)] [and others

1995-07-17

Two RFLPs at the TGFA locus were studied in 39 unrelated Chilean (Caucasoid-Mongoloid) patients with non-syndromic cleft lip/palate [CL(P)] and 51 control individuals. A highly significant association between BamHI A2 allele and CL(P) was detected ({chi}{sub 2} = 6.00; P = 0.014), while no association was found between TaqI RFLPs and clefting. No significant differences were found when comparing genotypes by type of cleft and a positive or negative family history of clefting. Our results seem to support rather definitively the association between TGFA and clefting but not support the hypothesis that TGFA is a major causal gene of CL(P). 29 refs., 5 tabs.

A Population-Based Study of Effects of Genetic Loci on Orofacial Clefts

DEFF Research Database (Denmark)

Moreno Uribe, L M; Fomina, T; Munger, R G

2017-01-01

, and MAFB and isolated cleft lip only (CLO) and cleft lip and palate (CLP). Significant associations were observed between isolated CLO and fetal SNPs near TPM1 and NOG1 and between CLP and fetal SNPs at ABCA4-ARHGAP29, THADA, FOXE1, and SPRY2. Overall, effects were similar for isolated CLO and CLP, except...

Analysis of the correlative factors for velopharyngeal closure of patients with cleft palate after primary repair.

Science.gov (United States)

Chen, Qi; Li, Yang; Shi, Bing; Yin, Heng; Zheng, Guang-Ning; Zheng, Qian

2013-12-01

The objective of this study was to analyze the correlative factors for velopharyngeal closure of patients with cleft palate after primary repair. Ninety-five nonsyndromic patients with cleft palate were enrolled. Two surgical techniques were applied in the patients: simple palatoplasty and combined palatoplasty with pharyngoplasty. All patients were assessed 6 months after the operation. The postoperative velopharyngeal closure (VPC) rate was compared by χ(2) test and the correlative factors were analyzed with logistic regression model. The postoperative VPC rate of young patients was higher than that of old patients, the group with incomplete cleft palate was higher than the group with complete cleft palate, and combined palatoplasty with pharyngoplasty was higher than simple palatoplasty. Operative age, cleft type, and surgical technique were the contributing factors for postoperative VPC rate. Operative age, cleft type, and surgical technique were significant factors influencing postoperative VPC rate of patients with cleft palate. Copyright © 2013 Elsevier Inc. All rights reserved.

A Case of Ectrodactyly, Ectodermal Dysplasia, Cleft Lip and Palate Syndrome Associated with Hydrocephaly

Directory of Open Access Journals (Sweden)

Buket Uysal Aladag

2013-06-01

Full Text Available Ectrodactyly, ectodermal dysplasia, cleft lip, and palate syndrome (EEC is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia and orofacial clefts (cleft lip/ palate. A few cases have been reported in literature. The cardinal components of the syndrome are ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate, and abnormalities ectodermal structures including skin (i.e. hypopigmented and dry skin, hyperkeratosis, skin atrophy, hair (sparse hair and eye brows, teeth (small, absent or dysplastic teeth, nails (nail dystrophy and exocrine glands (reduction/ absence of sweat, sebaceous and salivary glands. A multidisciplinary approach for treatment is needed which is co-ordinated by orthopedic, plastic, dental surgeons, ophthalmologist, dermatologists and speech therapists, psychologists. We presented EEC syndrome case with hydrocephaly by the literature. [Cukurova Med J 2013; 38(3.000: 531-535

Single-nucleotide polymorphisms (SNPs) of the IRF6 and TFAP2A in non-syndromic cleft lip with or without cleft palate (NSCLP) in a northern Chinese population

International Nuclear Information System (INIS)

Shi, Jinna; Song, Tao; Jiao, Xiaohui; Qin, Chunlin; Zhou, Jin

2011-01-01

Highlights: → IRF6 rs642961 polymorphism is intensively associated with NSCLP. → IRF6 rs2235371 polymorphism is not associated with NSCLP in the northern Chinese population. → This investigation failed to yield any evidence for the involvement of TFAP2A polymorphisms in NSCLP in the northern Chinese population. -- Abstract: Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect that is presumably caused by genetic factors alone or gene alterations in combination with environmental changes. A number of studies have shown an association between NSCLP and single-nucleotide polymorphisms (SNPs) in the interferon regulatory factor 6 (IRF6) gene in several populations. The transcription factor AP-2a (TFAP2A), which is involved in regulating mid-face development and upper lip fusion, has also be considered a candidate gene contributing to the etiology of NSCLP. The potential importance of IRF6 and TFAP2A in the NSCLP is further highlighted by a study showing that the two molecules are in the same developmental pathway. To further assess the roles of the IRF6 and TFAP2A in NSCLP, we investigated two identified IRF6 SNPs (rs2235371, rs642961) and three TFAP2A tag SNPs (rs3798691, rs1675414, rs303050) selected from HapMap data in a northern Chinese population, a group with a high prevalence of NSCLP. These SNPs were examined for association with NSCLP in 175 patients and 160 healthy controls. We observed a significant correlation between IRF6 rs642961 and NSCLP, and a lack of association between IRF6 rs2235371 polymorphisms and NSCLP in this population. This investigation indicated that there is no association between the three SNPs in the TFAP2A and NSCLP, suggesting that TFAP2A may not be involved in the development of NSCLP in the northern Chinese population. Our study provides further evidence regarding the role of IRF6 variations in NSCLP development and finds no significant association between TFAP2A and NSCLP in this northern

Single-nucleotide polymorphisms (SNPs) of the IRF6 and TFAP2A in non-syndromic cleft lip with or without cleft palate (NSCLP) in a northern Chinese population

Energy Technology Data Exchange (ETDEWEB)

Shi, Jinna, E-mail: kqkjk@yahoo.com.cn [Department of Periodontology, The First Affiliated Hospital, Harbin Medical University, Harbin (China); Song, Tao; Jiao, Xiaohui [Department of Oral Maxillofacial Surgery, The First Affiliated Hospital, Harbin Medical University, Harbin (China); Qin, Chunlin [Department of Biomedical Sciences, Texas A and M Health Science Center, Baylor College of Dentistry, Dallas, TX (United States); Zhou, Jin [Department of Hematology, The First Affiliated Hospital, Harbin Medical University, Harbin (China)

2011-07-15

Highlights: {yields} IRF6 rs642961 polymorphism is intensively associated with NSCLP. {yields} IRF6 rs2235371 polymorphism is not associated with NSCLP in the northern Chinese population. {yields} This investigation failed to yield any evidence for the involvement of TFAP2A polymorphisms in NSCLP in the northern Chinese population. -- Abstract: Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect that is presumably caused by genetic factors alone or gene alterations in combination with environmental changes. A number of studies have shown an association between NSCLP and single-nucleotide polymorphisms (SNPs) in the interferon regulatory factor 6 (IRF6) gene in several populations. The transcription factor AP-2a (TFAP2A), which is involved in regulating mid-face development and upper lip fusion, has also be considered a candidate gene contributing to the etiology of NSCLP. The potential importance of IRF6 and TFAP2A in the NSCLP is further highlighted by a study showing that the two molecules are in the same developmental pathway. To further assess the roles of the IRF6 and TFAP2A in NSCLP, we investigated two identified IRF6 SNPs (rs2235371, rs642961) and three TFAP2A tag SNPs (rs3798691, rs1675414, rs303050) selected from HapMap data in a northern Chinese population, a group with a high prevalence of NSCLP. These SNPs were examined for association with NSCLP in 175 patients and 160 healthy controls. We observed a significant correlation between IRF6 rs642961 and NSCLP, and a lack of association between IRF6 rs2235371 polymorphisms and NSCLP in this population. This investigation indicated that there is no association between the three SNPs in the TFAP2A and NSCLP, suggesting that TFAP2A may not be involved in the development of NSCLP in the northern Chinese population. Our study provides further evidence regarding the role of IRF6 variations in NSCLP development and finds no significant association between TFAP2A and NSCLP in this

Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency

Science.gov (United States)

Ysunza, Pablo Antonio; Repetto, Gabriela M.; Pamplona, Maria Carmen; Calderon, Juan F.; Shaheen, Kenneth; Chaiyasate, Konkgrit; Rontal, Matthew

2015-01-01

Background. One of the most controversial topics concerning cleft palate is the diagnosis and treatment of velopharyngeal insufficiency (VPI). Objective. This paper reviews current genetic aspects of cleft palate, imaging diagnosis of VPI, the planning of operations for restoring velopharyngeal function during speech, and strategies for speech pathology treatment of articulation disorders in patients with cleft palate. Materials and Methods. An updated review of the scientific literature concerning genetic aspects of cleft palate was carried out. Current strategies for assessing and treating articulation disorders associated with cleft palate were analyzed. Imaging procedures for assessing velopharyngeal closure during speech were reviewed, including a recent method for performing intraoperative videonasopharyngoscopy. Results. Conclusions from the analysis of genetic aspects of syndromic and nonsyndromic cleft palate and their use in its diagnosis and management are presented. Strategies for classifying and treating articulation disorders in patients with cleft palate are presented. Preliminary results of the use of multiplanar videofluoroscopy as an outpatient procedure and intraoperative endoscopy for the planning of operations which aimed to correct VPI are presented. Conclusion. This paper presents current aspects of the diagnosis and management of patients with cleft palate and VPI including 3 main aspects: genetics and genomics, speech pathology and imaging diagnosis, and surgical management. PMID:26273595

Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency

Directory of Open Access Journals (Sweden)

Pablo Antonio Ysunza

2015-01-01

Full Text Available Background. One of the most controversial topics concerning cleft palate is the diagnosis and treatment of velopharyngeal insufficiency (VPI. Objective. This paper reviews current genetic aspects of cleft palate, imaging diagnosis of VPI, the planning of operations for restoring velopharyngeal function during speech, and strategies for speech pathology treatment of articulation disorders in patients with cleft palate. Materials and Methods. An updated review of the scientific literature concerning genetic aspects of cleft palate was carried out. Current strategies for assessing and treating articulation disorders associated with cleft palate were analyzed. Imaging procedures for assessing velopharyngeal closure during speech were reviewed, including a recent method for performing intraoperative videonasopharyngoscopy. Results. Conclusions from the analysis of genetic aspects of syndromic and nonsyndromic cleft palate and their use in its diagnosis and management are presented. Strategies for classifying and treating articulation disorders in patients with cleft palate are presented. Preliminary results of the use of multiplanar videofluoroscopy as an outpatient procedure and intraoperative endoscopy for the planning of operations which aimed to correct VPI are presented. Conclusion. This paper presents current aspects of the diagnosis and management of patients with cleft palate and VPI including 3 main aspects: genetics and genomics, speech pathology and imaging diagnosis, and surgical management.

Myofibroblasts in palatal wound healing: prospects for the reduction of wound contraction after cleft palate repair.

NARCIS (Netherlands)

Beurden, H.E. van; Hoff, J.W. Von den; Torensma, R.; Maltha, J.C.; Kuijpers-Jagtman, A.M.

2005-01-01

The surgical closure of orofacial clefts is considered to impair maxillary growth and dento-alveolar development. Wound contraction and subsequent scar tissue formation, during healing of these surgical wounds, contribute largely to these growth disturbances. The potential to minimize wound

Evaluation and integration of disparate classification systems for clefts of the lip

Directory of Open Access Journals (Sweden)

Kathie H Wang

2014-05-01

Full Text Available Orofacial clefting is a common birth defect with wide phenotypic variability. Many systems have been developed to classify cleft patterns to facilitate diagnosis, management, surgical treatment, and research. In this review, we examine the rationale for different existing classification schemes and determine their inter-relationships, as well as strengths and deficiencies for subclassification of clefts of the lip. The various systems differ in how they describe and define attributes of cleft lip phenotypes. Application and analysis of the cleft lip classifications reveal discrepancies that may result in errors when comparing studies that use different systems. These inconsistencies in terminology, variable levels of subclassification, and ambiguity in some descriptions may confound analyses and impede further research aimed at understanding the genetics and etiology of clefts, development of effective treatment options for patients, as well as cross-institutional comparisons of outcome measures. Identification and reconciliation of discrepancies among existing systems is the first step towards creating a common standard to allow for a more explicit interpretation that will ultimately lead to a better understanding of the causes and manifestations of phenotypic variations in clefting.

[Variation of morphophysiological and genetic demographic traits in children with congenital cleft lip and palate].

Science.gov (United States)

Kurbatova, O L; Vasiliev, Iu A; Prudnikova, A S; Pobedonostseva, E Iu; Uchaeva, V S; Varapatvelian, A F; Udina, I G

2011-11-01

Medical records and questionnaire data have been used to analyze morphophysiological (the birth weight and length) and genetic demographic (maternal age and marriage structure) traits in a sample of children with orofacial malformations (OMs, cleft palate and/or cleft lip) living in Krasnodar krai, Russia. The sample of children with malformations (including premature infants) differs from the control group in lower birth weight and length and a lower proportion of children with morphophysiological values close to the population average values, as well as a higher family exogamy level estimated on the basis of marriage structure in the parental and preceding generations. The risk of congenital cleft palate and/or cleft lip is considerably increased if the material age is over 35 years or, to a lower degree, if it is under 20 years.

Scandcleft randomised trials of primary surgery for unilateral cleft lip and palate

DEFF Research Database (Denmark)

Lohmander, Anette; Persson, Christina; Willadsen, Elisabeth

2017-01-01

BACKGROUND AND AIM: Adequate velopharyngeal function and speech are main goals in the treatment of cleft palate. The objective was to investigate if there were differences in velopharyngeal competency (VPC) and hypernasality at age 5 years in children with unilateral cleft lip and palate (UCLP...... cleft teams in five countries: Denmark, Finland, Sweden, Norway, and the UK. METHODS: Three different surgical protocols for primary palatal repair were tested against a common procedure in the total cohort of 448 children born with a non-syndromic UCLP. Speech audio and video recordings of 391 children......) operated on with different surgical methods for primary palatal repair. A secondary aim was to estimate burden of care in terms of received additional secondary surgeries and speech therapy. DESIGN: Three parallel group, randomised clinical trials were undertaken as an international multicentre study by 10...

Characterization of subtle brain abnormalities in a mouse model of Hedgehog pathway antagonist-induced cleft lip and palate.

Science.gov (United States)

Lipinski, Robert J; Holloway, Hunter T; O'Leary-Moore, Shonagh K; Ament, Jacob J; Pecevich, Stephen J; Cofer, Gary P; Budin, Francois; Everson, Joshua L; Johnson, G Allan; Sulik, Kathleen K

2014-01-01

Subtle behavioral and cognitive deficits have been documented in patient cohorts with orofacial clefts (OFCs). Recent neuroimaging studies argue that these traits are associated with structural brain abnormalities but have been limited to adolescent and adult populations where brain plasticity during infancy and childhood may be a confounding factor. Here, we employed high resolution magnetic resonance microscopy to examine primary brain morphology in a mouse model of OFCs. Transient in utero exposure to the Hedgehog (Hh) signaling pathway antagonist cyclopamine resulted in a spectrum of facial dysmorphology, including unilateral and bilateral cleft lip and palate, cleft of the secondary palate only, and a non-cleft phenotype marked by midfacial hypoplasia. Relative to controls, cyclopamine-exposed fetuses exhibited volumetric differences in several brain regions, including hypoplasia of the pituitary gland and olfactory bulbs, hyperplasia of the forebrain septal region, and expansion of the third ventricle. However, in affected fetuses the corpus callosum was intact and normal division of the forebrain was observed. This argues that temporally-specific Hh signaling perturbation can result in typical appearing OFCs in the absence of holoprosencephaly--a condition classically associated with Hh pathway inhibition and frequently co-occurring with OFCs. Supporting the premise that some forms of OFCs co-occur with subtle brain malformations, these results provide a possible ontological basis for traits identified in clinical populations. They also argue in favor of future investigations into genetic and/or environmental modulation of the Hh pathway in the etiopathogenesis of orofacial clefting.

Evidence for an association between non-syndromic cleft lip with or without cleft palate and a gene located on the long arm of chromosome 4

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Healey, S.C.; Chenevix-Trench, G. [Queensland Institute of Medical Research, Brisbane (Australia); Mitchell, L.E. [Saint Louis Univ., MO (United States)

1994-09-01

Evidence of linkage has been reported for non-syndromic cleft lip with or without cleft palate (CL{+-}P) and two markers (D4S175 and D4S192) in the region 4q25-4q31.3. The linkage evidence comes from a single Caucasian pedigree with multiple cases of CL{+-}P in five generations. High-density pedigrees are, however, atypical of CL{+-}P and linkage evidence obtained from such a family may not be relevant to the majority of CL{+-}P families. We have, therefore, examined the association of CL{+-}P with both D4S175 and D4S192 in 95 unrelated CL{+-}P patients and 161 unselected controls. There was no evidence for an association between D4S175 and CL{+-}P in these data. There was, however, a significant association between D4S192 and CL{+-}P ({chi}{sup 2}{sub 4}=15.5,P=0.006), and the genotypic distribution was significantly heterogeneous between CL{+-}P patients and controls (P=0.025). Comparison of each of the four most common alleles (i.e A87, A89, A91 and A95), to all other alleles combined, indicated that A87 was significantly less common (OR=0.56,95% C.I. 0.34-0.90), and A95 was significantly more common (OR=1.88,95% C.I. 1.03-3.43) among the CL{+-}P patients than the controls. Although of only borderline significance, A89 also appeared to be more common among patients than controls (OR=1.43,95% C.I. 0.99-2.60). Hence, it appears that genetic variation at a CL{+-}P susceptibility locus (CSL) linked to D4S192 may be associated with both increased and decreased risk of CL{+-}P. In combination, A89 and A95 are significantly more common in CL{+-}P patients than in controls (OR=1.80;95% C.I. 1.24-2.60) and account for a risk ratio of 1.08 in the first degree relatives of CL{+-}P patients. These results provide further evidence for the presence of a CSL in the region 4q25-4q31.1, and indicate that the putative CSL is located closer to D4S192 than to D4S175.

The Implications of Nasal Substitutions in the Early Phonology of Toddlers With Repaired Cleft Palate.

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Hardin-Jones, Mary A; Chapman, Kathy L

2018-01-01

To examine the implications of nasal substitutions in the early words of toddlers with cleft palate. Retrospective. Thirty-four toddlers with nonsyndromic cleft palate and 20 noncleft toddlers, followed from ages 13 to 39 months. The groups were compared for the percentage of toddlers who produced nasal substitutions in their early words. The percentage of toddlers with repaired cleft palate who produced nasal substitutions and were later suspected of having velopharyngeal dysfunction (VPD) was also examined. Seventy-six percent of the toddlers in the cleft group (n = 26) and 35% of toddlers in the noncleft group (n = 7) produced nasal substitutions on one or more of their early words. Only 38% (10/26) of the toddlers with cleft palate who produced nasal substitutions in their early words were later diagnosed as having moderate-severe hypernasality and suspected VPD. The presence of nasal substitutions following palatal surgery was not always an early sign of VPD. These substitutions were present in the early lexicon of children with and without cleft palate.

Orofacial clefts in the newborn and environmental and occupational parental exposures: a case-control study in Rio de Janeiro, Brazil Fendas orofaciais no recém-nascido e exposições ambientais e ocupacionais dos pais: um estudo caso-controle no Rio de Janeiro, Brasil

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Isabel Cristina G Leite

2003-12-01

Full Text Available OBJECTIVES: to evaluate risk factors involving environmental and occupational parental exposures associated with occurrence of orofacial clefts in a group of Brazilian children. METHODS: a secondary base case-control study was conducted with 274 cases of cleft lip with or without cleft palate (CL±P and cleft palate only, with 548 controls (1:2. The authors analyzed residential proximity to industrial areas, exposure to commercial insecticides, agricultural pesticides, and vector control spraying, as well as various occupational exposures. The results were obtained by conditional regression analysis. RESULTS: proximity to industrial installations as a risk factor (OR = 3,32; 95%CI: 2,18-5,05 for all orofacial clefts, as well as the combined use of household insecticides and urban vector control pesticide spraying (OR = 5,73; 95%CI: 2,51-11,28. A group of maternal occupations heavily associated with orofacial clefts was domestic services (OR = 2,89; 95%CI: 1,76-4,86. CONCLUSIONS: solvents are frequently associated with CL ± P and that they are contained in numerous industrial products and household cleaning products, the results pertaining to occupational exposure become plausible. Other associations such as the routine use of domestic insecticides require further specific research for confirmation of the hypothesis.OBJETIVOS: avaliar fatores de risco envolvendo exposições ambientais e ocupacionais dos pais associadas com a ocorrência de fendas orofaciais em um grupo de crianças brasileiras. MÉTODOS: estudo caso-controle de base secundária reuniu 274 casos de portadores de fendas lábio-palatinas (FL±Pe fendas palatinas isoladas e 548 controles (1:2. Foram analisadas as variáveis proximidade residencial a área industriais, exposição a inseticidas comerciais, pesticidas agrícolas, e usados no controle de vetores, bem como várias exposições ocupacionais. Os resultados foram obtidos através de análise de regressão condicional

Mechanical cues in orofacial tissue engineering and regenerative medicine.

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Brouwer, Katrien M; Lundvig, Ditte M S; Middelkoop, Esther; Wagener, Frank A D T G; Von den Hoff, Johannes W

2015-01-01

Cleft lip and palate patients suffer from functional, aesthetical, and psychosocial problems due to suboptimal regeneration of skin, mucosa, and skeletal muscle after restorative cleft surgery. The field of tissue engineering and regenerative medicine (TE/RM) aims to restore the normal physiology of tissues and organs in conditions such as birth defects or after injury. A crucial factor in cell differentiation, tissue formation, and tissue function is mechanical strain. Regardless of this, mechanical cues are not yet widely used in TE/RM. The effects of mechanical stimulation on cells are not straight-forward in vitro as cellular responses may differ with cell type and loading regime, complicating the translation to a therapeutic protocol. We here give an overview of the different types of mechanical strain that act on cells and tissues and discuss the effects on muscle, and skin and mucosa. We conclude that presently, sufficient knowledge is lacking to reproducibly implement external mechanical loading in TE/RM approaches. Mechanical cues can be applied in TE/RM by fine-tuning the stiffness and architecture of the constructs to guide the differentiation of the seeded cells or the invading surrounding cells. This may already improve the treatment of orofacial clefts and other disorders affecting soft tissues. © 2015 by the Wound Healing Society.

Common dental anomalies in cleft lip and palate patients.

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Haque, Sanjida; Alam, Mohammad Khursheed

2015-01-01

Cleft lip and palate (CLP) is the most common orofacial congenital malformation in live births. CLP can occur individually or in combination with other congenital deformities. Affected patients experience a number of dental, aesthetic, speech, hearing, and psychological complications and have a higher incidence of severe dental conditions. The purpose of this study is to characterise the different types of dental anomalies that are frequently associated with CLP patients based on a literature survey. By literature survey, this study characterises the different types of dental anomalies that are frequently associated with cleft lip and palate patients. Common dental anomalies associated with CLP are supernumerary tooth, congenitally missing tooth, delayed tooth development, morphological anomalies in both deciduous and permanent dentition, delayed eruption of permanent maxillary incisors, microdontia, and abnormal tooth number. The incidence of certain dental anomalies is strongly correlated with Cleft lip and palate, a finding that is consistent with previous studies.

Exclusion of linkage between cleft lip with or without cleft palate and markers on chromosomes 4 and 6

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Blanton, S.H. [Univ. of Virginia, Charlottesville, VA (United States); Malcolm, S.; Winter, R. [Institute of Child Health, London (United Kingdom)] [and others

1996-01-01

Nonsyndromic cleft lip with or without associate cleft palate (CLP) is a common craniofacial defect, occurring in {approximately}1/1,000 live births. While the defect generally occurs sporadically, multiplex families have been reported. Segregation analyses have demonstrated that, in some families, CLP is inherited as an autosomal dominant/codominant disorder with low penetrance. Several clefting loci have been proposed on multiple chromosomes, including 6p24, 4q, and 19q13.1. Association studies and linkage studies suggested a locus that mapped to 6p24. We were unable to confirm this in a linkage study of 12 multigenerational families. A subsequent linkage study by Carinci et al., however, found evidence for linkage to this region in 14 of 21 clefting families. Additionally, Davies et al. studied the chromosomes of three individuals with cleft lip and palate, all of whom had a rearrangement involving 6p24. Their investigation supported a locus at 6p24. Carinci et al. reported that the most likely position for a clefting locus was at D6S89, which is centromeric to EDN1. This is in contrast to the findings of Davies et al., who suggested a placement telomeric to EDN1. F13A, which had been implicated in the initial association studies, is telomeric to EDN1. Thus, the region between F13A and D6S89 encompasses the regions proposed by both Davies et al. and Carinci et al. A second clefting locus, at 4q, was proposed by Beiraghi et al., who studied a single multigenerational family by linkage analysis. Their data suggested a locus near D4S175 and D4S192. 10 refs., 1 tab.

Centre-based statistics of cleft lip with/without alveolus and palate as well as cleft palate only patients in Aden, Yemen.

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Esmail, Ahlam Hibatulla Ali; Abdo, Muhgat Ahmed Ali; Krentz, Helga; Lenz, Jan-Hendrik; Gundlach, Karsten K H

2014-06-01

The purpose of the study was to report the types and patterns of cleft lip with/without cleft alveolus and palate as well as cleft palate only as seen in Aden, Yemen. Retrospective, centre-based study conducted at the Cleft Lip and Palate Centre, Aden University, Yemen. Statistical evaluation of the data from all cleft patients who were registered at or referred to this centre during the years 2005-2011. A total of 1110 cleft patients were seen during the period studied (2005-2011). Amongst these there were 183 (16.48%) with a cleft lip and 144 (12.98) with a cleft of lip and alveolus, 228 (20.54%) had a cleft palate, and 555 (50%) had a combination of cleft lip, alveolus, and palate. The clefts were found more often in males than in females (56.5% boys versus 43.5% girls). This difference was statistically significant (p ≤ 0.001). Statistically significant sex differences were also noted when evaluating the various cleft types. Isolated cleft palates were found most often in females. Among the cleft palate cases there were 102 (9.2%) with a cleft soft palate only. The ages of the patients were between one day and 40 years. Two hundred and one children (18%) had a positive family history of clefts. Among the risk factors considered in this study, consanguineous marriages among cousins were found most frequently (in 48% of the cases). In contrast to this, only 10% of the mothers had reported to have been taking medication directly prior to or during the first trimester of their pregnancy. On average the mothers were neither very young nor very old. The prevalence rate of orofacial cleft types among this Yemeni sample was similar to prevalence rates previously reported in white Caucasians. The present study did neither find many cases with medication before, nor during, pregnancy; there were few young or very old mothers; and the incidence of positive family histories was similar to those found in other studies on clefts. However, consanguineous marriages were

Risk factors leading to mucoperiosteal flap necrosis after primary palatoplasty in patents with cleft palate.

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Rossell-Perry, Percy; Figallo-Hudtwalcker, Olga; Vargas-Chanduvi, Roberto; Calderon-Ayvar, Yvette; Romero-Narvaez, Carolina

2017-10-01

Few studies have been published reporting risk factors for flap necrosis after primary palatoplasty in patients with cleft palate. This complication is rare, and the event is a disaster for both the patient and the surgeon. This study was performed to explore the associations between different risk factors and the development of flap necrosis after primary palatoplasty in patients with cleft palate. This is a case-control study. A 20 years retrospective analysis (1994-2015) of patients with nonsyndromic cleft palate was identified from medical records and screening day registries). Demographical and risk factor data were collected using a patient´s report, including information about age at surgery, gender, cleft palate type, and degree of severity. Odds ratios and 95% confident intervals were derived from logistic regression analysis. All cases with diagnoses of flap necrosis after primary palatoplasty were included in the study (48 patients) and 156 controls were considered. In multivariate analysis, female sex, age (older than 15 years), cleft type (bilateral and incomplete), and severe cleft palate index were associated with significantly increased risk for flap necrosis. The findings suggest that female sex, older age, cleft type (bilateral and incomplete), and severe cleft palatal index may be associated with the development of flap necrosis after primary palatoplasty in patients with cleft palate.

Post-operative outcomes after cleft palate repair in syndromic and non-syndromic children: a systematic review protocol.

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Zhang, Zach; Stein, Michael; Mercer, Nigel; Malic, Claudia

2017-03-09

There is a lack of high-level evidence on the surgical management of cleft palate. An appreciation of the differences in the complication rates between different surgical techniques and timing of repair is essential in optimizing cleft palate management. A comprehensive electronic database search will be conducted on the complication rates associated with cleft palate repair using MEDLINE, EMBASE, and the Cochrane Central Register of Controlled Trials. Two independent reviewers with expertise in cleft pathology will screen all appropriate titles, abstracts, and full-text publications prior to deciding whether each meet the predetermined inclusion criteria. The study findings will be tabulated and summarized. The primary outcomes will be the rate of palatal fistula, the incidence and severity of velopharyngeal insufficiency, and the rate of maxillary hypoplasia with different techniques and also the timing of the repair. A meta-analysis will be conducted using a random effects model. The evidence behind the optimal surgical approach to cleft palate repair is minimal, with no gold standard technique identified to date for a certain type of cleft palate. It is essential to appreciate how the complication rates differ between each surgical technique and each time point of repair, in order to optimize the management of these patients. A more critical evaluation of the outcomes of different cleft palate repair methods may also provide insight into more effective surgical approaches for different types of cleft palates.

Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate.

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Gowans, Lord Jephthah Joojo; Oseni, Ganiyu; Mossey, Peter A; Adeyemo, Wasiu Lanre; Eshete, Mekonen A; Busch, Tamara D; Donkor, Peter; Obiri-Yeboah, Solomon; Plange-Rhule, Gyikua; Oti, Alexander A; Owais, Arwa; Olaitan, Peter B; Aregbesola, Babatunde S; Oginni, Fadekemi O; Bello, Seidu A; Audu, Rosemary; Onwuamah, Chika; Agbenorku, Pius; Ogunlewe, Mobolanle O; Abdur-Rahman, Lukman O; Marazita, Mary L; Adeyemo, A A; Murray, Jeffrey C; Butali, Azeez

2018-05-01

Cleft lip and/or cleft palate (CL/P) are congenital anomalies of the face and have multifactorial etiology, with both environmental and genetic risk factors playing crucial roles. Though at least 40 loci have attained genomewide significant association with nonsyndromic CL/P, these loci largely reside in noncoding regions of the human genome, and subsequent resequencing studies of neighboring candidate genes have revealed only a limited number of etiologic coding variants. The present study was conducted to identify etiologic coding variants in GREM1, a locus that has been shown to be largely associated with cleft of both lip and soft palate. We resequenced DNA from 397 sub-Saharan Africans with CL/P and 192 controls using Sanger sequencing. Following analyses of the sequence data, we observed 2 novel coding variants in GREM1. These variants were not found in the 192 African controls and have never been previously reported in any public genetic variant database that includes more than 5000 combined African and African American controls or from the CL/P literature. The novel variants include p.Pro164Ser in an individual with soft palate cleft only and p.Gly61Asp in an individual with bilateral cleft lip and palate. The proband with the p.Gly61Asp GREM1 variant is a van der Woude (VWS) case who also has an etiologic variant in IRF6 gene. Our study demonstrated that there is low number of etiologic coding variants in GREM1, confirming earlier suggestions that variants in regulatory elements may largely account for the association between this locus and CL/P.

Cleft lip with or without cleft palate: Associations with transforming growth factor alpha and retinoic acid receptor loci

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Chenevix-Trench, G.; Jones, K. (Queensland Inst. of Medical Research (Australia) Univ. of Queensland (Australia)); Green, A.C.; Duffy, D.L.; Martin, N.G. (Queensland Inst. of Medical Research (Australia))

1992-12-01

The first association study of cleft lip with or without cleft palate (CL/P), with candidate genes, found an association with the transforming growth-factor alpha (TGFA) locus. This finding has since been replicated, in whole or in part, in three independent studies. Here the authors extend their original analysis of the TGFA TaqI RFLP to two other TGFA RFLPs and seven other RFLPs at five candidate genes in 117 nonsyndromic cases of CL/P and 113 controls. The other candidate genes were the retinoic acid receptor (RARA), the bcl-2 oncogene, and the homeobox genes 2F, 2G, and EN2. Significant associations with the TGFA TaqI and BamHI RFLPs were confirmed, although associations of clefting with previously reported haplotypes did not reach significance. Of particular interest, in view of the known teratogenic role of retinoic acid, was a significant association with the RARA PstI RFLP (P = .016; not corrected for multiple testing). The effect on risk of the A2 allele appears to be additive, and although the A2A2 homozygote only has an odds ratio of about 2 and recurrence risk to first-degree relatives ([lambda][sub 1]) of 1.06, because it is so common it may account for as much as a third of the attributable risk of clefting. There is no evidence of interaction between the TGFA and RARA polymorphisms on risk, and jointly they appear to account for almost half the attributable risk of clefting. 43 refs., 1 fig., 4 tabs.

Maternal and paternal age, birth order and interpregnancy interval evaluation for cleft lip-palate.

Science.gov (United States)

Martelli, Daniella Reis Barbosa; Cruz, Kaliany Wanessa da; Barros, Letízia Monteiro de; Silveira, Marise Fernandes; Swerts, Mário Sérgio Oliveira; Martelli Júnior, Hercílio

2010-01-01

Cleft lip and palate (CL/P) are the most common congenital craniofacial anomalies. To evaluate environmental risk factors for non-syndromic CL/P in a reference care center in Minas Gerais. we carried out a case-controlled study, assessing 100 children with clefts and 100 children without clinical alterations. The analysis dimensions (age, skin color, gender, fissure classification, maternal and paternal age, birth order and interpregnancy interval), obtained from a questionnaire; and later we build a data base and the analyses were carried out by the SPSS 17.0 software. The results were analyzed with the relative risk for each variable, in order to estimate the odds ratio with a 95% confidence interval, followed by a bivariate and multivariate analysis. among 200 children, 54% were males and 46% were females. As far as skin color is concerned most were brown, white and black, respectively. Cleft palates were the most common fissures found (54%), followed by lip cleft (30%) and palate cleft (16%). although with a limited sample, we noticed an association between maternal age and an increased risk for cleft lip and palate; however, paternal age, pregnancy order and interpregnancy interval were not significant.

DLX4 is associated with orofacial clefting and abnormal jaw development

Czech Academy of Sciences Publication Activity Database

Wu, D.; Mandal, S.; Choi, A.; Anderson, A.; Procházková, Michaela; Perry, H.; Gil-Da-Silva-Lopes, V.L.; Lao, R.; Wan, E.; Tang, P.L.F.; Kwok, P.Y.; Klein, O.; Zhuan, B.; Slavotinek, A.M.

2015-01-01

Roč. 24, č. 15 (2015), s. 4340-4352 ISSN 0964-6906 Institutional support: RVO:68378050 Keywords : Distal-less 4 gene * craniofacial development * cleft lip and/or palate Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 5.985, year: 2015

Prevalence and evaluation of environmental risk factors associated with cleft lip and palate in a central Indian population.

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Kalaskar, Ritesh; Kalaskar, Ashita; Naqvi, Fatama Sana; Tawani, Gopal S; Walke, Damayanti R

2013-01-01

Cleft lip and palate, the most common developmental deformity seen worldwide, may be either genetic or environmental in origin. Recent research clearly shows the inter-relationship between environmental risk factors and development of oral clefts. The purpose of this study was to determine the prevalence of cleft lip and palate in the Nagpur region of India and to evaluate environmental risk factors associated with the occurrence of this orofacial abnormality. The parents of infants born with or without cleft lip and palate were subjected to questionnaires that elicited sociodemographic profiles and histories of maternal dietary, medical, and environmental risk factors as well family histories of cleft. A multifactorial comparison of environmental risk factors associated with this deformity was performed. The prevalence of cleft lip and palate and cleft palate was found to be 0.66% and 0.27%, respectively, in the Nagpur region. The results demonstrated a positive association between cleft lip and palate and the environmental risk factors of nutritional deficiency, anemia, and self-administered medications. Several environmental risk factors appear to play an important role in the development of cleft lip and palate in a Central Indian population of low socioeconomic status.

Maxillary sinus volumes of patients with unilateral cleft lip and palate.

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Erdur, Omer; Ucar, Faruk Izzet; Sekerci, Ahmet Ercan; Celikoglu, Mevlut; Buyuk, Suleyman Kutalmıs

2015-10-01

Studies about maxillary sinuses of cleft lip-palate patients have increased since sinusitis is commonly observed in these patients. It is evident that maxillary sinus will be morphologically affected in these patients. And anatomic differences may be a cause or at least a contributor of sinusitis. The aim of this study was to compare maxillary sinus volumes of the non-syndromic patients with unilateral cleft lip-palate and control group by using Cone-Beam computed tomography. Tomography scans of 44 unilateral cleft lip-palate patients (18 right and 26 left) with age and gender matched 45 control patients were evaluated for the study. The images used in the study were part of the diagnostic records collected due to dental treatment needs. All tomographs were obtained in supine position by using Cone-Beam computed tomography (NewTom 5G, QR, Verona, Italy). The patient-specific Hounsfield values were set to include the largest amount of voxels in the sinuses volume calculation individually. All data were measured in mm(3). There was no statistically difference between the gender and age distributions of the groups. No statistically significant difference was found on the cleft and non-cleft side, the right and left side of the unilateral cleft lip-palate patients and the control group (P>0.05). For the inter group comparison, mean maxillary sinus volumes volume of unilateral cleft lip-palate patients (9894.55±4171.44mm(3)) was statistically smaller than the control group (11,977.90±4484.93mm(3)) (Pcleft lip-palate patients when compared with the healthy control group. No difference was found on the cleft, non-cleft side and the right-left side of the unilateral cleft lip-palate patients. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Incidence of Congenital Heart Diseases Anomalies in Newborns with Oral Clefts, Zahedan, Iran

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Noor Mohammad Noori

2016-09-01

Full Text Available Background Oral cleft is the most common orofacial congenital anomaly among live births. This anomaly at birth is one of the main causes of children disability and mortality.  Congenital heart disease (CHD is one of the most common anomalies in oral clefts.  This study aimed to assess the incidence of congenital heart diseases anomalies in newborns with oral clefts. Materials and Methods This study performed on 48,692 live born to estimate incidence of oral clefts from 1 st December 2013 to 31 th November 2015 from three general hospitals in Zahedan, The capital city of the Sistan & Baluchestan  province, Iran. All oral cleft patients were under echocardiography to diagnosis the incidence of CHD as associated anomaly. The collected data were processed using SPSS-16. Results The results of the analysis showed that the incidence of cleft lip was higher in boys than girls, while the cleft palate was higher in girls. Lip/palate cleft was higher for boys.  Oral clefts patients accounted of 102 (0.2% with incidence rate of 2.095 per 1000 lives. Of 102 patients 19 (18.62%, 39(35.24% and 44(43.14% were oral lip, oral palate and both respectively. The incidence of CHD in patients with oral clefts was 26.5%, while the incidences for cleft lip, cleft palate and both were 15.79%, 20.51%, and 36.36% respectively. Conclusion From the study concluded that the rate of CHD among children with oral clefts was high compared with the healthy children.  Strongly is suggested the echocardiography for these patients to have early diagnostic of CHD to manage any life-threatening.

Clefts of the lip and palate: is the Internet a trustworthy source of information for patients?

Science.gov (United States)

Karamitros, G A; Kitsos, N A

2018-04-02

Great numbers of patients use the Internet to obtain information and familiarize themselves with medical conditions. However, the quality of Internet-based information on clefts of the lip and palate has not yet been examined. The goal of this study was to assess the quality of Internet-based patient information on orofacial clefts. Websites were evaluated based on the modified Ensuring Quality Information for Patients (EQIP) instrument (36 items). Three hundred websites were identified using the most popular search engines. Of these, 146 were assessed after the exclusion of duplicates, irrelevant sites, and web pages in languages other than English. Thirty-four (23.2%) web pages, designed mostly by academic centres and hospitals, covered more than 22 items and were classified as high-score websites. The EQIP score achieved by websites ranged between 4 and 30, out of a total possible 36 points; the median score was 19 points. The top five high-scoring web pages are highlighted. The overall quality of Internet-based patient information on orofacial clefts is low. Also, the majority of web pages created by medical practitioners have a marketing perspective and in order to attract more patients/customers avoid mentioning the risks of the reconstructive procedures needed. Copyright © 2018 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Addressing the challenges of cleft lip and palate research in India

Directory of Open Access Journals (Sweden)

Mossey Peter

2009-10-01

Full Text Available The Indian sub-continent remains one of the most populous areas of the world with an estimated population of 1.1 billion in India alone. This yields an estimated 24.5 million births per year and the birth prevalence of clefts is somewhere between 27,000 and 33,000 clefts per year. Inequalities exist, both in access to and quality of cleft care with distinct differences in urban versus rural access and over the years the accumulation of unrepaired clefts of the lip and palate make this a significant health care problem in India. In recent years the situation has been significantly improved through the intervention of Non Governmental Organisations such as SmileTrain and Transforming Faces Worldwide participating in primary surgical repair programmes. The cause of clefts is multi factorial with both genetic and environmental input and intensive research efforts have yielded significant advances in recent years facilitated by molecular technologies in the genetic field. India has tremendous potential to contribute by virtue of improving research expertise and a population that has genetic, cultural and socio-economic diversity. In 2008, the World Health Organisation (WHO has recognised that non-communicable diseases, including birth defects cause significant infant mortality and childhood morbidity and have included cleft lip and palate in their Global Burden of Disease (GBD initiative. This will fuel the interest of India in birth defects registration and international efforts aimed at improving quality of care and ultimately prevention of non-syndromic clefts of the lip and palate.

Short-term effect of short, intensive speech therapy on articulation and resonance in Ugandan patients with cleft (lip and) palate

NARCIS (Netherlands)

Anke Luyten; H. Vermeersch; A. Hodges; K. Bettens; K. van Lierde; G. Galiwango

2016-01-01

Objectives: The purpose of the current study was to assess the short-term effectiveness of short and intensive speech therapy provided to patients with cleft (lip and) palate (C(L)P) in terms of articulation and resonance. Methods: Five Ugandan patients (age: 7.3-19.6 years) with non-syndromic C(L)P

Comparison of Hyoid Bone Position Among Cleft Lip Palate and Normal Subjects

International Nuclear Information System (INIS)

Wahaj, A.; Erum, G.; Ahmed, I.

2014-01-01

Objective: To compare the hyoid bone position between cleft lip/palate and normal patients. Study Design: Cross-sectional analytical study. Place and Duration of Study: Dr. Ishrat-ul-Ebad Khan Institute of Oral Health Sciences (DIEKIOHS), Dow University of Health Sciences (DUHS), Karachi, from March 2012 to February 2013. Methodology: The sample for this study consisted of total 68 subjects among which Group 1 consisted of 34 nonsyndromic cleft lip and palate (both unilateral and bilateral) and Group 2 included 34 subjects with normal facial morphology. Both groups included males and females with mean age 14.3 +- 0.1 year. Analysis was done on lateral cephalometric radiographs of patients including angulations taken as Hp-Mp, Hp-Ol, Hp-Sn, Cvt-Evt, Opt-Cvt, Nke, Sn-Vert, Cvt-Vert, Sn-Vert and linear distance of hyoid bone measured as C3-H, C3-RGN, and H-RGN. Results: Statistically significant differences (p < 0.001) in C3-H, C3-Rgn, H-Rgn, and Sn-Cvt were found between cleft lip/palate group and normal group. Conclusion: Hyoid bone is located anteriorly and caudally in cleft lip and palate group. (author)

Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).

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Machida, Junichiro; Félix, Têmis M; Murray, Jeffrey C; Yoshiura, Koh-ichiro; Tanemura, Mitsuyo; Kamamoto, Munefumi; Shimozato, Kazuo; Sonta, Shin-ichi; Ono, Takao

2009-09-01

Identification of the breakpoints of disease-associated chromosome rearrangements can provide informative clues to a positional cloning approach for genes responsible for inherited diseases. Recently, we found a three-generation Japanese family segregating balanced chromosome translocation t(9;17)(q32;q12). One of the subjects had cleft lip and palate. We examined whether regions near the breakpoint could be associated with cleft lip and/or palate. We determined the breakpoints involved in the translocation by fluorescence in situ hybridization analysis and subsequent long-range polymerase chain reaction. In order to study the role of these disrupted regions in nonsyndromic cleft lip and/or palate, we performed mutation analysis and a haplotype-based transmission disequilibrium test using tagging single-nucleotide polymorphisms in the flanking regions of the breakpoints in white and Filipino nonsyndromic cleft lip and/or palate populations. Sequence analysis demonstrated that two genes, SLC31A1 (solute carrier family 31 member 1) on chromosome 9 and CCL2 (chemokine ligand 2) on chromosome 17, were rearranged with the breaks occurring within their introns. It is interesting that SLC31A1 lies closed to BSPRY (B-box and SPRY domain), which is a candidate for involvement with cleft lip and/or palate. Some of the variants in BSPRY and CCL2 showed significant p values in the cleft lip and/or palate population compared with the control population. There was also statistically significant evidence of transmission distortion for haplotypes on both chromosomes 9 and 17. The data support previous reports that genes on chromosomal regions of 9q and 17q play an important role in facial development.

Rating Nasolabial Aesthetics in Unilateral Cleft Lip and Palate Patients: Cropped Versus Full-Face Images.

Science.gov (United States)

Schwirtz, Roderic M F; Mulder, Frans J; Mosmuller, David G M; Tan, Robin A; Maal, Thomas J; Prahl, Charlotte; de Vet, Henrica C W; Don Griot, J Peter W

2018-05-01

To determine if cropping facial images affects nasolabial aesthetics assessments in unilateral cleft lip patients and to evaluate the effect of facial attractiveness on nasolabial evaluation. Two cleft surgeons and one cleft orthodontist assessed standardized frontal photographs 4 times; nasolabial aesthetics were rated on cropped and full-face images using the Cleft Aesthetic Rating Scale, and total facial attractiveness was rated on full-face images with and without the nasolabial area blurred using a 5-point Likert scale. Cleft Palate Craniofacial Unit of a University Medical Center. Inclusion criteria: nonsyndromic unilateral cleft lip and an available frontal view photograph around 10 years of age. a history of facial trauma and an incomplete cleft. Eighty-one photographs were available for assessment. Differences in mean CARS scores between cropped versus full-face photographs and attractive versus unattractive rated patients were evaluated by paired t test. Nasolabial aesthetics are scored more negatively on full-face photographs compared to cropped photographs, regardless of facial attractiveness. (Mean CARS score, nose: cropped = 2.8, full-face = 3.0, P lip: cropped = 2.4, full-face = 2.7, P lip: cropped = 2.6, full-face = 2.8, P < .001). Aesthetic outcomes of the nasolabial area are assessed significantly more positively when using cropped images compared to full-face images. For this reason, cropping images, revealing the nasolabial area only, is recommended for aesthetical assessments.

Impact of cleft lip and/or palate in children on family quality of life before and after reconstructive surgery.

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Macho, P; Bohac, M; Fedeles, J; Fekiacova, D; Fedeles, J

2017-01-01

The aim of the study was to evaluate the impact of cleft lip/palate children together with consequent treatment on quality of family life using standardized questionnaire. Different to previous studies the evaluation of quality of family life by questionnaire was realized twice in the same group of families (before the reconstructive surgery and several months after palatoplasty). The study was conducted in 40 families divided in two groups: 20 families with children with cleft lip (CL), 20 families with children with cleft lip and palate (CLP). The questionnaire of the Impact on Family Scale was used for evaluation of the influence of orofacial clefts on parent´s quality of life. Evaluations were made at the second month of child´s life and at one year of child´s life with reciprocally comparison. The higher impact of children with CLP on quality of family life was noted at 2 months and 1 year of child's age as compared to the impact of children with CL. The reduction of impact on quality of life after surgical correction was observed in families of children with CL at one year of child's age. This decrease of influence on family quality of life was due to significantly lower impact in strain and economic dimensions in families with CL children after operation. However, in the group of families with CLP children no significant changes in the impact on family quality of life were noted when compared to the values before and shortly after the reconstructive surgery. This study showed that orofacial clefts in children influence markedly the quality of their family life. The higher impact of children with CLP on quality of family life as compared to children with CL was noted and this impact in CLP group was not influenced shortly after reconstructive surgery. It is suggested that appropriate medical care in Cleft Centre with special psychological support may lead to improvement in quality of life for families with cleft lip and palate children (Tab. 2, Fig. 2, Ref

Canadian Orofacial Pain Team workshop report on the Global Year Against Orofacial Pain

Science.gov (United States)

Lavigne, Gilles J; Sessle, Barry J

2015-01-01

The year 2013–2014 has been designated the Global Year Against Orofacial Pain by the International Association for the Study of Pain. Accordingly, a multidisciplinary Canadian and international group of clinical, research and knowledge-transfer experts attended a workshop in Montreal, Quebec. The workshop had two aims: to identify new pathways for innovative diagnosis and management of chronic orofacial pain states; and to identify opportunities for further collaborative orofacial pain research and education in Canada. Three topics related to chronic orofacial pain were explored: biomarkers and pain signatures for chronic orofacial pain; misuse of analgesic and opioid pain medications for managing chronic orofacial pain; and complementary alternative medicine, topical agents and the role of stress in chronic orofacial pain. It was determined that further research is needed to: identify biomarkers of chronic orofacial post-traumatic neuropathic pain, with a focus on psychosocial, physiological and chemical-genetic factors; validate the short-and long-term safety (ie, no harm to health, and avoidance of misuse and addiction) of opioid use for two distinct conditions (acute and chronic orofacial pain, respectively); and promote the use of topical medications as an alternative treatment in dentistry, and further document the benefits and safety of complementary and alternative medicine, including stress management, in dentistry. It was proposed that burning mouth syndrome, a painful condition that is not uncommon and affects mainly postmenopausal women, should receive particular attention. PMID:25522352

Canadian Orofacial Pain Team workshop report on the global year against orofacial pain.

Science.gov (United States)

Lavigne, Gilles J; Sessle, Barry J

2015-01-01

The year 2013-2014 has been designated the Global Year Against Orofacial Pain by the International Association for the Study of Pain. Accordingly, a multidisciplinary Canadian and international group of clinical, research and knowledge-transfer experts attended a workshop in Montreal, Quebec. The workshop had two aims: to identify new pathways for innovative diagnosis and management of chronic orofacial pain states; and to identify opportunities for further collaborative orofacial pain research and education in Canada. Three topics related to chronic orofacial pain were explored: biomarkers and pain signatures for chronic orofacial pain; misuse of analgesic and opioid pain medications for managing chronic orofacial pain; and complementary alternative medicine, topical agents and the role of stress in chronic orofacial pain. It was determined that further research is needed to: identify biomarkers of chronic orofacial post-traumatic neuropathic pain, with a focus on psychosocial, physiological and chemical-genetic factors; validate the short- and long-term safety (i.e., no harm to health, and avoidance of misuse and addiction) of opioid use for two distinct conditions (acute and chronic orofacial pain, respectively); and promote the use of topical medications as an alternative treatment in dentistry, and further document the benefits and safety of complementary and alternative medicine, including stress management, in dentistry. It was proposed that burning mouth syndrome, a painful condition that is not uncommon and affects mainly postmenopausal women, should receive particular attention.

Variability in palatal shape and size in patients with bilateral complete cleft lip and palate assessed using dense surface model construction and 3D geometric morphometrics

Czech Academy of Sciences Publication Activity Database

Bejdová, Š.; Krajíček, V.; Peterka, Miroslav; Trefný, P.; Velemínská, J.

2012-01-01

Roč. 40, č. 3 (2012), s. 201-208 ISSN 1010-5182 Institutional research plan: CEZ:AV0Z50390512 Keywords : orofacial cleft * palatal shape * laser scranning Subject RIV: EA - Cell Biology Impact factor: 1.610, year: 2012

A Population-Based Exploration of the Social Implications Associated with Cleft Lip and/or Palate.

Science.gov (United States)

Glener, Adam D; Allori, Alexander C; Shammas, Ronnie L; Carlson, Anna R; Pien, Irene J; Aylsworth, Arthur S; Meyer, Robert; Pimenta, Luiz; Strauss, Ronald; Watkins, Stephanie; Marcus, Jeffrey R

2017-06-01

Clefts of the lip and/or palate (CL/P) carry a social stigma that often causes psychosocial stress. The purpose of this study was to consider the association of cleft phenotype and age with self-reported aspects of psychosocial stress. Children with nonsyndromic CL/P and unaffected children born between 1997 and 2003 were identified through the North Carolina Birth Defects Monitoring Program and North Carolina birth records, respectively. The psychosocial concerns of children with CL/P were assessed via a 29-question subset of a larger survey. Responses were analyzed according to school age and cleft phenotype (cleft lip with/without cleft alveolus, CL ± A; cleft palate only, CP; or cleft lip with cleft palate, CL + P). Surveys were returned for 176 children with CL/P and 333 unaffected children. When compared with unaffected children, responses differed for CL ± A in 4/29 questions, for CP in 7/29 questions, and for CL + P in 8/29 questions ( P aesthetic concerns, bullying, and difficulties with friendship, and social interaction. Children with CL + P reported more severe aesthetic-related concerns than children with CL ± A or CP but experienced similar speech-related distress as children with CP only. Social implications associated with CL/P are most pronounced during middle school, and less so during elementary and high school. This information identifies areas of social improvement aimed at reducing the stigma of CL/P.

Incidence of Speech-Correcting Surgery in Children With Isolated Cleft Palate.

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Gustafsson, Charlotta; Heliövaara, Arja; Leikola, Junnu; Rautio, Jorma

2018-01-01

Speech-correcting surgeries (pharyngoplasty) are performed to correct velopharyngeal insufficiency (VPI). This study aimed to analyze the need for speech-correcting surgery in children with isolated cleft palate (ICP) and to determine differences among cleft extent, gender, and primary technique used. In addition, we assessed the timing and number of secondary procedures performed and the incidence of operated fistulas. Retrospective medical chart review study from hospital archives and electronic records. These comprised the 423 consecutive nonsyndromic children (157 males and 266 females) with ICP treated at the Cleft Palate and Craniofacial Center of Helsinki University Hospital during 1990 to 2016. The total incidence of VPI surgery was 33.3% and the fistula repair rate, 7.8%. Children with cleft of both the hard and soft palate (n = 300) had a VPI secondary surgery rate of 37.3% (fistula repair rate 10.7%), whereas children with only cleft of the soft palate (n = 123) had a corresponding rate of 23.6% (fistula repair rate 0.8%). Gender and primary palatoplasty technique were not considered significant factors in need for VPI surgery. The majority of VPI surgeries were performed before school age. One fifth of patients receiving speech-correcting surgery had more than one subsequent procedure. The need for speech-correcting surgery and fistula repair was related to the severity of the cleft. Although the majority of the corrective surgeries were done before the age of 7 years, a considerable number were performed at a later stage, necessitating long-term observation.

Fissuras lábio palatinas não sindrômicas: relação entre o sexo e a extensão clínica Non sindromic cleft lip and palate: relationship between sex and clinical extension

Directory of Open Access Journals (Sweden)

Daniella Reis Barbosa Martelli

2012-10-01

Full Text Available A fenda labial e/ou palatina representa a anomalia congênita mais comum na face. OBJETIVO: Descrever a correlação existente entre a fenda labial e/ou palatina não sindrômica e gênero e sua gravidade na população brasileira. MÉTODO: Estudo transversal, conduzido entre 2009 e 2011, em uma amostra de 366 pacientes. Os dados foram analisados com estatística descritiva e regressão logística multinomial com intervalo de 95% para estimar a probabilidade dos tipos de fenda labial e/ou palatina afetar os gêneros. RESULTADOS: Entre os 366 casos de fenda labial e/ou palatina não sindrômica, as fendas mais frequentes foram a fenda lábio-palatina, seguida, respectivamente, pela fenda labial e fenda palatina. As fendas palatinas foram mais frequentes entre as mulheres e a fenda lábio-palatina e fenda labial apenas predominaram nos homens. O risco de fenda labial em relação à fenda palatina foi de 2,19 vezes maior em homens quando comparados às mulheres; enquanto o risco de fenda labial e palatina em relação à fenda palatina apenas foi 2,78 vezes em homens, quando comparados às mulheres. CONCLUSÃO: Este estudo mostrou que há diferenças na distribuição de fendas labiais e/ou palatinas não sindrômicas entre homens e mulheres.Cleft lip and/or palate represent the most common congenital anomaly of the face. AIM: To describe the correlation between non-syndromic cleft lip and/or palate and gender, and its severity in the Brazilian population. METHODS: Cross-sectional study, between 2009 and 2011, in a sample of 366 patients. The data was analyzed with descriptive statistics and multinomial logistic regression with a 95% interval to estimate the likelihood of the types of cleft lip and/or palate affecting the genders. RESULTS: Among the 366 cases of non-syndromic cleft lip and/or palate, the more frequent clefts were cleft lip and palate, followed respectively by cleft lip and cleft palate. The cleft palates were more frequent in

Intraflagellar transport 88 (IFT88) is crucial for craniofacial development in mice and is a candidate gene for human cleft lip and palate.

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Tian, Hua; Feng, Jifan; Li, Jingyuan; Ho, Thach-Vu; Yuan, Yuan; Liu, Yang; Brindopke, Frederick; Figueiredo, Jane C; Magee, William; Sanchez-Lara, Pedro A; Chai, Yang

2017-03-01

Ciliopathies are pleiotropic human diseases resulting from defects of the primary cilium, and these patients often have cleft lip and palate. IFT88 is required for the assembly and function of the primary cilia, which mediate the activity of key developmental signaling pathways. Through whole exome sequencing of a family of three affected siblings with isolated cleft lip and palate, we discovered that they share a novel missense mutation in IFT88 (c.915G > C, p.E305D), suggesting this gene should be considered a candidate for isolated orofacial clefting. In order to evaluate the function of IFT88 in regulating craniofacial development, we generated Wnt1-Cre;Ift88fl/fl mice to eliminate Ift88 specifically in cranial neural crest (CNC) cells. Wnt1-Cre;Ift88fl/flpups died at birth due to severe craniofacial defects including bilateral cleft lip and palate and tongue agenesis, following the loss of the primary cilia in the CNC-derived palatal mesenchyme. Loss of Ift88 also resulted in a decrease in neural crest cell proliferation during early stages of palatogenesis as well as a downregulation of the Shh signaling pathway in the palatal mesenchyme. Importantly, Osr2KI-Cre;Ift88fl/flmice, in which Ift88 is lost specifically in the palatal mesenchyme, exhibit isolated cleft palate. Taken together, our results demonstrate that IFT88 has a highly conserved function within the primary cilia of the CNC-derived mesenchyme in the lip and palate region in mice and is a strong candidate as an orofacial clefting gene in humans. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Cleft Lip and Palate in CHARGE Syndrome: Phenotypic Features That Influence Management.

Science.gov (United States)

Isaac, Kathryn V; Ganske, Ingrid M; Rottgers, Stephen A; Lim, So Young; Mulliken, John B

2018-03-01

Infants with syndromic cleft lip and/or cleft palate (CL/P) often require more complex care than their nonsyndromic counterparts. Our purpose was to (1) determine the prevalence of CL/P in patients with CHARGE syndrome and (2) highlight factors that affect management in this subset of children. This is a retrospective review from 1998 to 2016. Patients with CHARGE syndrome were diagnosed clinically and genetically. Prevalence of CL/P was determined and clinical details tabulated: phenotypic anomalies, cleft types, operative treatment, and results of repair. CHARGE syndrome was confirmed in 44 patients: 11 (25%) had cleft lip and palate and 1 had cleft palate only. Surgical treatment followed our usual protocols. Two patients with cardiac anomalies had prolonged recovery following surgical correction, necessitating palatal closure prior to nasolabial repair. One of these patients was too old for dentofacial orthopedics and underwent combined premaxillary setback and palatoplasty, prior to labial closure. Velopharyngeal insufficiency was frequent (n = 3/7). All patients had feeding difficulty and required a gastrostomy tube. All patients had neurosensory hearing loss; anomalies of the semicircular canals were frequent (n = 3/4). External auricular anomalies, colobomas, and cardiovascular anomalies were also common (n = 8/11). Other associated anomalies were choanal atresia (n = 4/11) and tracheoesophageal fistula (n = 2/11). CHARGE syndrome is an under-recognized genetic cause of cleft lip and palate. Hearing loss and speech and feeding difficulties often occur in these infants. Diagnosis can be delayed if the child presents with covert phenotypic features, such as chorioretinal colobomas, semicircular canal hypoplasia, and unilateral choanal atresia.

Evidence, from family studies, for linkage disequilibrium between TGFA and a gene for nonsyndromic cleft lip with or without cleft palate

Energy Technology Data Exchange (ETDEWEB)

Feng, Hongshu; Lee, A.; Gasser, D.L. [Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States); Sassani, R.; Bartlett, S.P. [Children`s Hospital of Philadelphia, PA (United States); Buetow, K.H. [Fox Chase Cancer Center, Philadelphia, PA (United States); Hecht, J.T. [Univ. of Texas Medical School, Houston, TX (United States); Malcolm, S.; Winter, R.M.; Vintiner, G.M. [Univ. of London (United Kingdom)

1994-11-01

The inheritance of alleles of the transforming growth factor alpha (TGFA) locus has been studied in families affected with cleft lip with or without cleft palate (CL/P), by using the transmission/disequilibrium test described by Spielman and colleagues. Only heterozygous parents with an affected child can be included in this test, but within such families a significantly greater frequency of C2 alleles were transmitted to affected children than would be expected by chance. There was no evidence that the total number of C2 alleles transmitted to affected and unaffected children differed significantly from random segregation. These data provide evidence from within families that a gene for susceptibility to CL/P is in significant linkage disequilibrium with the C2 allele of the TGFA locus. 30 refs., 1 fig., 2 tabs.

Bilingual Children with Nonsyndromic Cleft Lip and/or Palate: Language and Memory Skills

Science.gov (United States)

Young, Selena Ee-Li; Purcell, Alison Anne; Ballard, Kirrie Jane; Liow, Susan Jane Rickard; Ramos, Sara Da Silva; Heard, Robert

2012-01-01

Purpose: Research shows that monolingual children with cleft lip and/or palate (CLP) have a higher incidence of cognitive-linguistic deficits, but it is not clear whether bilingual preschool children with CLP are especially vulnerable because they need to acquire 2 languages. We tested the hypothesis that bilingual children with CLP score lower…

Secondary Alveolar Bone Grafting in Patients Born With Unilateral Cleft Lip and Palate: A 20-Year Follow-up.

Science.gov (United States)

Jabbari, Fatemeh; Wiklander, Laila; Reiser, Erika; Thor, Andreas; Hakelius, Malin; Nowinski, Daniel

2018-02-01

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. Observational follow-up study. Cleft Lip and Palate Team, Craniofacial Center, Uppsala University Hospital, Sweden. 40 nonsyndromic, Caucasian patients with unilateral complete cleft lip and palate. Clinical examination, CBCT, and occlusal radiographs. Alveolar bone height was evaluated according to Bergland index at a 20-year follow-up. The alveolar bone height in the cleft area was significantly reduced compared to a previously reported 10-year follow-up in the same cohort by total ( P = .045) and by subgroup with dental restoration ( P = .0078). This was positively correlated with the gingival bleeding index (GBI) ( r = 0.51, P = .0008) and presence of dental restorations in the cleft area ( r = 0.45, P = .0170). There was no difference in the Bergland index generated from scoring the alveolar bone height on occlusal radiographs as with the equivalent index on CBCT. Patients rehabilitated with complex dental restoration seems to be at higher risk for progression of bone loss in the cleft area. Supportive periodontal therapy should be implemented after complex dental restorations in cleft patients. Conventional occlusal radiographs provide an adequate image for evaluating postoperative bone height in clinical follow-up.

The Effect of Furlow Palatoplasty Timing on Speech Outcomes in Submucous Cleft Palate.

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Swanson, Jordan W; Mitchell, Brianne T; Cohen, Marilyn; Solot, Cynthia; Jackson, Oksana; Low, David; Bartlett, Scott P; Taylor, Jesse A

2017-08-01

Because some patients with submucous cleft palate (SMCP) are asymptomatic, surgical treatment is conventionally delayed until hypernasal resonance is identified during speech production. We aim to identify whether speech outcomes after repair of a SMCP is influenced by age of repair. We retrospectively studied nonsyndromic children with SMCP. Speech results, before and after any surgical treatment or physical management of the palate were compared using the Pittsburgh Weighted Speech Scoring system. Furlow palatoplasty was performed on 40 nonsyndromic patients with SMCP, and 26 patients were not surgically treated. Total composite speech scores improved significantly among children repaired between 3 and 4 years of age (P = 0.02), but not older than 4 years (P = 0.63). Twelve (86%) of 14 patients repaired who are older than 4 years had borderline or incompetent speech (composite Pittsburgh Weighted Speech Scoring ≥3) compared with 2 (29%) of 7 repaired between 3 and 4 years of age (P = 0.0068), despite worse prerepair scores in the latter group. Resonance improved in children repaired who are older than 4 years, but articulation errors persisted to a greater degree than those treated before 4 years of age (P = 0.01.) CONCLUSIONS: Submucous cleft palate repair before 4 years of age appears associated with lower ultimate rates of borderline or incompetent speech. Speech of patients repaired at or after 4 years of age seems to be characterized by persistent misarticulation. These findings highlight the importance of timely diagnosis and management.

Oral clefts, tranforming growth factor alpha gene variants, and maternal smoking

DEFF Research Database (Denmark)

Christensen, Kaare; Olsen, Jørn; Nørgaard-Pedersen, Bent

1999-01-01

Studies in the United States have indicated that maternal first trimester smoking and infant transforming growth factor alpha (TGFA) locus mutations are associated with non-syndromic cleft lip and/or palate (CLP) and that a synergistic effect of these two risk factors occurs. Based on a Danish case-control......, and no synergistic effect with smoking was observed. The "rare" TGFA allele occurred in 25% of both cases and controls compared with an average of 14% in other white control groups. Furthermore, the frequency of CLP in Scandinavia is among the highest in the world. Hence, it is possible that the previously reported...

Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.

Science.gov (United States)

Hyder, Zerin; Beale, Victoria; O'Connor, Ruth; Clayton-Smith, Jill

2017-04-01

The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant disorders, there is variability in expression and not all of these three core features are present in every individual with the condition. Moreover, there may be additional associated features, which are under-recognized. One of these is the presence of genitourinary anomalies, some of which cause significant morbidity. This report details a further two patients with EEC syndrome and genitourinary involvement, including flaccid megacystis with detrusor muscle failure, bilateral hydronephrosis and megaureter, requiring significant renal and urological involvement during their childhood. We go on to review the literature on the diagnosis and management of genitourinary malformations in EEC syndrome.

Dental care of patients after surgical therapy of inborn oro-facial clefts 3D technologies in diagnostics and therapy of cleft patients

OpenAIRE

Kašparová, Magdaléna

2015-01-01

Patients with orofacial defects, inborn or acquired, isolated or in combination with other handicaps in syndroms, suffer from various problems including psychological problems. Morphological changes within these handicaps burden not only the patients themselves, but also their families. Among the main problems are difficulties with feeding, speech or breathing. Anomalies in number or position of deciduous and permanent teeth, development of jaws and dental arches are often present. Multidisci...

Cleft Lip and Cleft Palate

Science.gov (United States)

... health conditions > Cleft lip and cleft palate Cleft lip and cleft palate E-mail to a friend Please fill in ... repair cleft lip and palate. What are cleft lip and cleft palate? Cleft lip is a birth defect in which ...

Canadian Orofacial Pain Team workshop report on the Global Year Against Orofacial Pain

OpenAIRE

Gilles J Lavigne; Barry J Sessle

2015-01-01

The year 2013?2014 has been designated the Global Year Against Orofacial Pain by the International Association for the Study of Pain. Accordingly, a multidisciplinary Canadian and international group of clinical, research and knowledge-transfer experts attended a workshop in Montreal, Quebec. The workshop had two aims: to identify new pathways for innovative diagnosis and management of chronic orofacial pain states; and to identify opportunities for further collaborative orofacial pain resear...

ANATOMICAL VARIATIONS FINDINGS ON CONE BEAM-COMPUTED TOMOGRAPHY IN CLEFT LIP AND PALATE PATIENTS

Directory of Open Access Journals (Sweden)

Yllka DECOLLI

2015-09-01

Full Text Available Introduction: Cone beam computed tomography (CBCT is frequently used in surgery treatment planning in patients with cleft lip and palate (CLP. The aim of this study was to investigate the presence of different anatomical variations of patients with cleft lip and palate using CBCT images. Materials and method: CBCTs taken from consecutive patients (n =25; mean age 10.7±4 years, range 6.5–23 years with a non-syndromic cleft lip and palate (CLP, between June 2014-2015, were systematically evaluated. Sinuses, nasopharynx, oropharynx, hypopharynx, temporo-mandibular joint (TMJ, maxilla and mandible were checked for incidental findings. Results: On 90.1 % of the CBCTs, incidental findings were found. The most prevalent ones were airway/sinus findings (78.1%, followed by dental problems, e.g. missing teeth (54%, nasal septum deviation (93%, middle ear and mastoid opacification, suggestive for otitis media (8% and (chronic mastoiditis (7%, abnormal TMJ anatomy (4.3%. Conclusions: Incidental findings are common on CBCTs in cleft lip and palate patients. Compared with the literature, CLP patients have more dental, nasal and ear problems. The CBCT scan should be reviewed by all specialists in the CLP team, stress being laid on their specific background knowledge concerning symptoms and treatment of these patients.

[Multidisciplinary treatment of orofacial pain].

Science.gov (United States)

Geurts, J W; Haumann, J; van Kleef, M

2016-11-01

The diagnosis and treatment of orofacial pain can be complex. The differential diagnosis is very extensive. Therefore, multidisciplinary diagnosis and treatment are often indicated. The diagnosis of chronic pain also entails the investigation of psychological factors. This is because psychological problems can play a role in the chronification of pain, but they can also be a consequence of chronic pain. Patients with persistent orofacial complaints should be seen by a medical team consisting of an oral and maxillofacial surgeon, a neurologist, an anaesthesiologist/pain specialist, a dentist-gnathologist, an orofacial physical therapist, and a psychologist or psychiatrist specialising in orofacial pain. Treatment options should be discussed, taking into account literature concerning their effectiveness. The general conclusion is that much research remains to be done into the causes of, and treatments for, orofacial pain.

Structure and Function of the Superior Temporal Plane in Adult Males with Cleft Lip and Palate: Pathologic Enlargement with No Relationship to Childhood Hearing Deficits

Science.gov (United States)

Shriver, A. S.; Canady, J.; Richman, L.; Andreasen, N. C.; Nopoulos, P.

2006-01-01

Background: In a previous study from our lab, adult males with non-syndromic cleft lip and/or palate (NSCLP) were shown to have significantly lower temporal lobe gray matter volume than matched controls. The current study was designed to begin a regional analysis of specific subregions of the temporal lobe. The superior temporal plane (STP) is a…

Cleft lip and palate subjects prevalence of abnormal stylohyoid complex and tonsilloliths on cone beam computed tomography.

Science.gov (United States)

Cazas-Duran, Eymi Valery; Fischer Rubira-Bullen, Izabel Regina; Pagin, Otávio; Stuchi Centurion-Pagin, Bruna

Tonsilloliths and abnormal stylohyoid complex may have similar symptoms to others of different aetiology. Individuals with cleft lip and palate describe similar symptoms because of the anatomical implications that are peculiar to this anomaly. The aim of this study was to determine the prevalence of abnormal stylohyoid complex and tonsilloliths on cone beam computed tomography in individuals with cleft lip and palate. According to the inclusion and exclusion criteria, 66 CT scans out of of 2,794 were analysed, on i- Cat ® vision software with 0.8 index Kappa intra-examiner. The total prevalence of ossification of the incomplete stylohyoid complex in individuals with cleft lip and palate was 66.6%; the prevalence of these findings in females was 75% and 61.9% in males. The total prevalence of tonsilloliths was 7.5%. It is important to ascertain calcification of the stylohyoid complex and tonsilloliths in the radiological report, due to the anatomical proximity and similarsymptomatology to other orofacial impairments inindividuals with cleft lip and palate, focusing on females with oral cleft formation, patients with incisive trans foramen cleft and incisive post foramen cleft because they are more prevalent. Greater knowledge of the anatomical morphometry of individuals with cleft lip and palate greatly contributes towards the selection of clinical behaviours and the quality of life of these patients, since cleft lip and palateis one of the most common anomalies. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. All rights reserved.

Mucoperiosteal Flap Necrosis after Primary Palatoplasty in Patients with Cleft Palate

Science.gov (United States)

Cotrina-Rabanal, Omar; Barrenechea-Tarazona, Luis; Vargas-Chanduvi, Roberto; Paredes-Aponte, Luis; Romero-Narvaez, Carolina

2017-01-01

Background The prevalence of flap necrosis after palatoplasty in patients with cleft palate. The prevalence of mucoperiosteal flap necrosis after palatoplasty remains unknown, and this complication is rare. This event is highly undesirable for both the patient and the surgeon. We present here a new scale to evaluate the degree of hypoplasia of the palate and identify patients with cleft palate at high risk for the development of this complication. Methods In this case series, a 20-year retrospective analysis (1994–2014) identified patients from our records (medical records and screening day registries) with nonsyndromic cleft palate who underwent operations at 3 centers. All of these patients underwent operations using 2-flap palatoplasty and also underwent a physical examination with photographs and documentation of the presence of palatal flap necrosis after primary palatoplasty. Results Palatal flap necrosis was observed in 4 cases out of 1,174 palatoplasties performed at these centers. The observed prevalence of palatal flap necrosis in these groups was 0.34%. Conclusions The prevalence of flap necrosis can be reduced by careful preoperative planning, and prevention is possible. The scale proposed here may help to prevent this complication; however, further studies are necessary to validate its utility. PMID:28573096

Mucoperiosteal Flap Necrosis after Primary Palatoplasty in Patients with Cleft Palate

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Percy Rossell-Perry

2017-05-01

Full Text Available BackgroundThe prevalence of flap necrosis after palatoplasty in patients with cleft palate. The prevalence of mucoperiosteal flap necrosis after palatoplasty remains unknown, and this complication is rare. This event is highly undesirable for both the patient and the surgeon. We present here a new scale to evaluate the degree of hypoplasia of the palate and identify patients with cleft palate at high risk for the development of this complication.MethodsIn this case series, a 20-year retrospective analysis (1994–2014 identified patients from our records (medical records and screening day registries with nonsyndromic cleft palate who underwent operations at 3 centers. All of these patients underwent operations using 2-flap palatoplasty and also underwent a physical examination with photographs and documentation of the presence of palatal flap necrosis after primary palatoplasty.ResultsPalatal flap necrosis was observed in 4 cases out of 1,174 palatoplasties performed at these centers. The observed prevalence of palatal flap necrosis in these groups was 0.34%.ConclusionsThe prevalence of flap necrosis can be reduced by careful preoperative planning, and prevention is possible. The scale proposed here may help to prevent this complication; however, further studies are necessary to validate its utility.

Maxillary dental anomalies in patients with cleft lip and palate: a cone beam computed tomography study.

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Celikoglu, M; Buyuk, S K; Sekerci, A E; Cantekin, K; Candirli, C

2015-01-01

To compare the frequency of maxillary dental anomalies in patients affected by unilateral (UCLP) and bilateral (BCLP) cleft lip with palate and to determine whether statistical differences were present or not between cleft and normal sides in UCLP group by using cone beam computed tomography (CBCT). In addition, the frequency of those dental anomalies was compared with previous studies presenting the same population without cleft Study Design: Fifty non-syndromic patients affected by UCLP (28 patients) and BCLP (22 patients) were selected for analysis of dental anomalies by means of CBCT. The frequency of maxillary dental anomalies including tooth agenesis, microdontia of lateral incisor, ectopic eruption and impaction of canine and supernumerary tooth were examined. Pearson chi-square and Fisher's exact tests were performed for statistical comparisons. All patients affected by UCLP and BCLP were found to have at least one maxillary dental anomaly. The most frequently observed dental anomaly was tooth agenesis (92.5% and 86.4%, respectively) in UCLP and BCLP groups. Tooth agenesis and canine impaction were observed more commonly in the cleft side (75.0% and 35.7%, respectively) than in the normal side (57.1% and 14.3%, respectively) in UCLP group (p≯0.05). All dental anomalies were found to be higher in both cleft groups than in general populations not affected by cleft. Since patients affected by UCLP and BCLP had at least one dental anomaly and higher dental anomaly frequency as compared to patients without cleft, those patients should be examined carefully prior to orthodontic treatment.

Cancer and orofacial pain.

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Romero-Reyes, M; Salvemini, D

2016-11-01

Cancer pain is a devastating condition. Pain in the orofacial region, may be present as the single symptom of cancer or as a symptom of cancer in its later stages. This manuscript revises in a comprehensive manner the content of the conference entitled "Orofacial Pain and Cancer" (Dolor Orofacial y Cancer) given at the VI Simposio International "Advances in Oral Cancer" on the 22 July, 2016 in San Sebastioan-Donostia, Spain. We have reviewed (pubmed-medline) from the most relevant literature including reviews, systematic reviews and clinical cases, the significant and evidence-based mechanisms and mediators of cancer-associated facial pain, the diverse types of cancers that can be present in the craniofacial region locally or from distant sites that can refer to the orofacial region, cancer therapy that may induce pain in the orofacial region as well as discussed some of the new advancements in cancer pain therapy. There is still a lack of understanding of cancer pain pathophysiology since depends of the intrinsic heterogeneity, type and anatomic location that the cancer may present, making more challenging the creation of better therapeutic options. Orofacial pain can arise from regional or distant tumor effects or as a consequence of cancer therapy. The clinician needs to be aware that the pain may present the characteristics of any other orofacial pain disorder so a careful differential diagnosis needs to be given. Cancer pain diagnosis is made by exclusion and only can be reached after a thorough medical history, and all the common etiologies have been carefully investigated and ruled out. The current management tools are not optimal but there is hope for new, safer and effective therapies coming in the next years.

Genetics Home Reference: CATSPER1-related nonsyndromic male infertility

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... related nonsyndromic male infertility CATSPER1-related nonsyndromic male infertility Printable PDF Open All Close All Enable Javascript ... expand/collapse boxes. Description CATSPER1 -related nonsyndromic male infertility is a condition that affects the function of ...

Influence of different palate repair protocols on facial growth in unilateral complete cleft lip and palate.

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Xu, Xue; Kwon, Hyuk-Jae; Shi, Bing; Zheng, Qian; Yin, Heng; Li, Chenghao

2015-01-01

To address the question of whether one- or two-stage palatal treatment protocol has fewer detrimental effects on craniofacial growth in patients aged 5 years with unilateral complete cleft lip and palate. Forty patients with non-syndromic unilateral complete cleft lip and palate (UCCLPs) who had received primary cleft lip repair at age 6-12 months and cleft palate repair at age 18-30 months were selected in this study. Eighteen UCCLP patients who received two-stage palate repair were selected as group 1, and 22 UCCLP patients who received one-stage palate repair were selected as group 2. The control group consisted of 20 patients with unilateral incomplete cleft lip (UICL patients) whose age and gender matched with UCCLP patients. A one-sample Kolmogorov-Smirnov test was used to analyze the nature of data distribution. Bonferroni test and Kruskal-Wallis H tests were used for multiple comparisons. Both case groups showed reduced maxillary sagittal length (ANS-PMP, A-PM, p palate repair had a reduced posterior maxillary vertical height (R-PMP, p palate repair. Vomer flap repair inhibited maxilla vertical growth. Delayed hard palate repair showed less detrimental effects on maxillary growth compared to early hard palate repair in UCCLP patients aged 5 years. Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Incidence Assessment of MTHFR C677T and A1298C Polymorphisms in Iranian Non-syndromic Cleft Lip and/or Palate Patients

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Asghar Ebadifar

2015-06-01

Full Text Available Background and aims. The aim of the present study is to determine the incidence of MTHFR C677 T and A1298C muta-tions in Iranian patients with cleft lip and/or cleft palate. Materials and methods. We screened 61 Iranian patients with cleft lip and/or cleft palate for mutations in the two alleles of MTHFR gene associated with cleft lip and/or palate: A1298C and C677T, using Polymerase Chain Reaction following by RFLP. Results. The 677T and 1298C homozygote genotypes showed a frequency of 36.1% and 11.4%, respectively. Combined genotype frequencies in newborns having oral clefts showed that the highest genotype was 677TT/1298AA (22.9% and 677TT/1298CC genotypes were not observed. Conclusion. The results showed that 65.6% of all patients had at least one T mutant allele in C677T and 58.9% C mutant allele for A1298C. According to the frequencies of homozygosity of mutant alleles, it could be said that MTHFRgenotype of 677TT shows a greater role in having oral clefts.

THREE-DIMENSIONAL ASSESSMENT OF THE PHARYNGEAL AIRWAY AND MAXILLARY SINUS VOLUMES IN INDIVIDUALS WITH NON-SYNDROMIC CLEFT LIP AND PALATE

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Ana NEMȚOI

2015-09-01

Full Text Available Introduction: Children with cleft lip and palate (CLP are known to have airway problems. Introduction of ConeBeam CT (CBCT and imaging software has facilitated generation of 3D images for assessing the volume of maxillary sinuses and pharyngeal airway. Consequently, the present study aimed at evaluating and comparing the maxillary sinus and pharyngeal airway volume of patients with cleft lip and palate in healthy patients, using cone beam computed tomography (CBCT images. Materials and method: The sample group included 27 individuals (15 with cleft lip and palate subjects and 12 healthy subjects. The pharyngeal airway and each maxillary sinus were three-dimensionally assessed, segmented and their volume was calculated. A comparison between the right and left sinus was performed by Student t-test, and the differences between the control and cleft groups were calculated using ANOVA. Results: No statistically significant differences were found when the maxillary sinuses volumes from each side were compared (p >0.05. The unilateral CLP patients presented the lowest sinus volume. Individuals with CLP did not exhibit a total airway volume smaller than the nonCLP controls. Conclusions: 3D imaging using CBCT and Romexis software is reliable for assessing maxillary sinus and pharyngeal airway volume. The present study showed that the pharyngeal airway is not compromised in CLP individuals. The unilateral CLP individuals present maxillary sinuses with smaller volumes, no differences being recorded between the cleft and non-cleft side.

Centre-level variation in outcomes and treatment for otitis media with effusion and hearing loss and the association of hearing loss with developmental outcomes at ages 5 and 7 years in children with non-syndromic unilateral cleft lip and palate: The Cleft Care UK study. Part 2.

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Hall, A; Wills, A K; Mahmoud, O; Sell, D; Waylen, A; Grewal, S; Sandy, J R; Ness, A R

2017-06-01

To explore centre-level variation in otitis media with effusion (OME), hearing loss and treatments in children in Cleft Care UK (CCUK) and to examine the association between OME, hearing loss and developmental outcomes at 5 and 7 years. Two hundred and sixty-eight 5-year-old British children with non-syndromic unilateral cleft lip and palate (UCLP) recruited to CCUK. Children had air and bone conduction audiometry at age 5. Information on grommet and hearing aid treatment was obtained from parental questionnaire and medical notes. Hearing loss at age 5 was defined as >20 dB in the better ear and history of OME and hearing loss was determined from past treatment. Children with sensorineural hearing loss were excluded. Associations were examined with speech, behaviour and self-confidence at age 5 and educational attainment at age 7. Centre variation was examined using hierarchical models and associations between hearing variables and developmental outcomes were examined using logistic regression. There was centre-level variation in early grommet placement (variance partition coefficient (VPC) 18%, P=.001) and fitting of hearing aids (VPC 8%, P=.03). A history of OME and hearing loss was associated with poor intelligibility of speech (adjusted odds ratio=2.87, 95% CI 1.42-5.77) and aspects of educational attainment. Hearing loss is an important determinant of poor speech and treatment variation across centres suggest management of OME and hearing loss could be improved. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Acid-sensing ion channels in trigeminal ganglion neurons innervating the orofacial region contribute to orofacial inflammatory pain.

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Fu, Hui; Fang, Peng; Zhou, Hai-Yun; Zhou, Jun; Yu, Xiao-Wei; Ni, Ming; Zheng, Jie-Yan; Jin, You; Chen, Jian-Guo; Wang, Fang; Hu, Zhuang-Li

2016-02-01

Orofacial pain is a common clinical symptom that is accompanied by tooth pain, migraine and gingivitis. Accumulating evidence suggests that acid-sensing ion channels (ASICs), especially ASIC3, can profoundly affect the physiological properties of nociception in peripheral sensory neurons. The aim of this study is to examine the contribution of ASICs in trigeminal ganglion (TG) neurons to orofacial inflammatory pain. A Western blot (WB), immunofluorescence assay of labelled trigeminal ganglion neurons, orofacial formalin test, cell preparation and electrophysiological experiments are performed. This study demonstrated that ASIC1, ASIC2a and ASIC3 are highly expressed in TG neurons innervating the orofacial region of rats. The amplitude of ASIC currents in these neurons increased 119.72% (for ASIC1-like current) and 230.59% (for ASIC3-like current) in the formalin-induced orofacial inflammatory pain model. In addition, WB and immunofluorescence assay demonstrated a significantly augmented expression of ASICs in orofacial TG neurons during orofacial inflammation compared with the control group. The relative protein density of ASIC1, ASIC2a and ASIC3 also increased 58.82 ± 8.92%, 45.30 ± 11.42% and 55.32 ± 14.71%, respectively, compared with the control group. Furthermore, pharmacological blockade of ASICs and genetic deletion of ASIC1 attenuated the inflammation response. These findings indicate that peripheral inflammation can induce the upregulation of ASICs in TG neurons, causing orofacial inflammatory pain. Additionally, the specific inhibitor of ASICs may have a significant analgesic effect on orofacial inflammatory pain. © 2016 John Wiley & Sons Australia, Ltd.

Panel perception of facial appearance of cleft patients generated by use of a morphing technique.

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Yildirim, Vedat; Hemprich, Alexander; Gründl, Martin; Pausch, Niels Christian

2014-09-01

Perception of the facial appearance of cleft patients has, until now, been evaluated on the basis of photographs of the patients. Research based on photographs generated by use of a morphing technique has not yet been reported. The purpose of this study was to investigate female and male raters' panel perception with regard to the following: (1) patient age, (2) attractiveness, (3) gender appearance, and (4) likeability of faces of cleft patients generated by the use of a morphing technique. The study was conducted at the Department of Oral, Craniomaxillofacial and Facial Plastic Surgery, University Hospital of Leipzig, Germany. We used photographs of 32 adult German nonsyndromic cleft patients, mean age 18.9 ± 1.3 years, and surveyed 93 students, mean age 25.3 ± 3.2 years, by use of a standardized questionnaire. All respondents rated the mean age of cleft patients equally in unmorphed and morphed pictures. For all respondents, attractiveness of morphed patient pictures was rated significantly higher than for unmorphed pictures (mean 4.8 ± 1.0 vs. 6.4 ± 2.4; p morphed pictures of eight patients were rated. Female respondents rated attractiveness significantly higher than did males, especially for pictures of female patients. Facial morphing of patient pictures is a suitable method for creation of standard cleft faces. Despite the modification of the pictures, the faces generated remain human and assessable by panel members. Perception of faces of cleft patients' depended on raters' gender.

Epidemiology, Etiology, and Treatment of Isolated Cleft Palate

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Burg, Madeleine L.; Chai, Yang; Yao, Caroline A.; Magee, William; Figueiredo, Jane C.

2016-01-01

Isolated cleft palate (CPO) is the rarest form of oral clefting. The incidence of CPO varies substantially by geography from 1.3 to 25.3 per 10,000 live births, with the highest rates in British Columbia, Canada and the lowest rates in Nigeria, Africa. Stratified by ethnicity/race, the highest rates of CPO are observed in non-Hispanic Whites and the lowest in Africans; nevertheless, rates of CPO are consistently higher in females compared to males. Approximately fifty percent of cases born with cleft palate occur as part of a known genetic syndrome or with another malformation (e.g., congenital heart defects) and the other half occur as solitary defects, referred to often as non-syndromic clefts. The etiology of CPO is multifactorial involving genetic and environmental risk factors. Several animal models have yielded insight into the molecular pathways responsible for proper closure of the palate, including the BMP, TGF-β, and SHH signaling pathways. In terms of environmental exposures, only maternal tobacco smoke has been found to be strongly associated with CPO. Some studies have suggested that maternal glucocorticoid exposure may also be important. Clearly, there is a need for larger epidemiologic studies to further investigate both genetic and environmental risk factors and gene-environment interactions. In terms of treatment, there is a need for long-term comprehensive care including surgical, dental and speech pathology. Overall, five main themes emerge as critical in advancing research: (1) monitoring of the occurrence of CPO (capacity building); (2) detailed phenotyping of the severity (biology); (3) understanding of the genetic and environmental risk factors (primary prevention); (4) access to early detection and multidisciplinary treatment (clinical services); and (5) understanding predictors of recurrence and possible interventions among families with a child with CPO (secondary prevention). PMID:26973535

Orofacial pain management: current perspectives

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Romero-Reyes M

2014-02-01

Full Text Available Marcela Romero-Reyes, James M Uyanik Orofacial and Head Pain Service, Department of Oral and Maxillofacial Pathology Radiology and Medicine, New York University College of Dentistry, New York, NY, USA Abstract: Some of the most prevalent and debilitating pain conditions arise from the structures innervated by the trigeminal system (head, face, masticatory musculature, temporomandibular joint and associated structures. Orofacial pain (OFP can arise from different regions and etiologies. Temporomandibular disorders (TMD are the most prevalent orofacial pain conditions for which patients seek treatment. Temporomandibular disorders include a number of clinical problems that involve the masticatory musculature, the temporomandibular joint (TMJ or both. Trigeminal neuropathic pain conditions can arise from injury secondary to dental procedures, infection, neoplasias, or disease or dysfunction of the peripheral and/or central nervous system. Neurovascular disorders, such as primary headaches, can present as chronic orofacial pain, such as in the case of facial migraine, where the pain is localized in the second and third division of the trigeminal nerve. Together, these disorders of the trigeminal system impact the quality of life of the sufferer dramatically. A multidisciplinary pain management approach should be considered for the optimal treatment of orofacial pain disorders including both non-pharmacological and pharmacological modalities. Keywords: pain, orofacial, neuropathic, TMD, trigeminal, headache

[Pathophysiology and treatment of orofacial pain.

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Shinoda, Masamichi; Noma, Noboru

"Pain" is one of body defense mechanisms and crucial for the life support. However, orofacial pain such as myofascial pain syndrome, burning mouth syndrome and trigeminal neuralgia plays no part in body defense mechanisms and requires therapeutic intervention. Recent studies have indicated that plastic changes in the activities of trigeminal neurons, satellite glial cells in trigeminal ganglion, secondary neurons, microglia and astrocytes in trigeminal spinal subnucleus following orofacial inflammation and trigeminal nerve injury are responsible for orofacial pain mechanisms. Clinically, it is well known that the etiologic differential diagnosis which consists of careful history-taking and physical examination is essential for therapeutic decision in patients with orofacial pain. This report outlines the current knowledge on the pathophysiology, diagnosis, treatment of orofacial pain.

Changes in the Height of Velopharyngeal Closure Relative to the Cervical Spine From Infancy Through Adolescence in Patients With Cleft Palate.

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Mason, Kazlin N; Riski, John E; Perry, Jamie L

2018-04-01

Palpation is often used to identify C1, an intraoperative landmark, for placement of the pharyngoplasty. However, little is known about the relationship between the palatal plane (PP) and this cervical spine landmark across select variables. This study seeks to analyze variations in the height of velopharyngeal closure relative to C1 across differing cleft types and age groups. Retrospective, cross-sectional analysis. Large, multidisciplinary center for craniofacial disorders. Clinical lateral cephalograms were analyzed in nonsyndromic patients who underwent primary palatoplasty. Regression analysis and analysis of covariance were completed to determine how age and cleft type impact underlying cervical and velopharyngeal measures. Age ( P < .001) and cleft type ( P = .036) were significant predictors of the distance between the height of velopharyngeal closure and C1. Those with greater severity of clefting demonstrated larger distances between the height of velopharyngeal closure and C1. Compared to normative data, children with cleft palate have significantly larger distances between the PP and C1. The height of velopharyngeal closure above C1 was observed to range from 3.6 to 12.6 mm across cleft populations. This study demonstrates the variability in C1 as a landmark across variables including cleft type and age. Because of differences in the height of velopharyngeal closure across cleft types relative to C1, it is necessary to preoperatively quantify the vertical distance between the PP and palpable intraoperative landmark, C1, to determine the appropriate height of pharyngoplasty insertion.

Diabetes mellitus and drug abuse during pregnancy and the risk for orofacial clefts and related abnormalities.

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Trindade-Suedam, Ivy Kiemle; Kostrisch, Lília Maria von; Pimenta, Luiz André Freire; Negrato, Carlos Antônio; Franzolin, Solange Braga; Trindade, Alceu Sergio

2016-08-08

to assessed the prevalence of diabetes mellitus (DM) and drug abuse in mothers of children with orofacial clefts (OFC). 325 women who had children (0-3y) with clefts were interviewed. Data regarding type of diabetes, use of legal/illegal drugs during pregnancy, waist girth and fasting blood sugar at the first prenatal consult were collected. twenty seven percent of the women had DM, out of these, 89% had gestational DM, 5,5% type 1 DM and 5,5% type 2 DM. The prevalence of DM in mothers of children with OFC was 27%, it is significantly higher than the average Brazilian population which is 7.6% (pembarazo; circunferencia de la cintura; y, glucemia en ayunas en la primera consulta prenatal. el veintisiete por ciento de las mujeres tenían DM. Entre estas, el 89% tuvieron DM gestacional, el 5,5% DM tipo 1 y el 5,5% DM tipo 2. La prevalencia de DM en madres de hijos con MCF fue de 27%. Esto es significativamente más alto que el promedio de la población brasileña afectada por esa enfermedad, que es de 7,6% (pembarazo, el 32% de las madres había utilizado drogas y una correlación positiva significativa fue observada entre el abuso de drogas y la ocurrencia de hendiduras y otras malformaciones craneofaciales (p=0,028) (OR=2,87; 95%IC=1,1-7,4). la DM y el abuso de drogas durante el embarazo aumentan el riesgo de MCF y de anomalías relacionadas; se enfatiza la importancia del diagnóstico precoz de DM y la prevención del abuso de drogas, especialmente entre las mujeres embarazadas. avaliar a prevalência de diabetes mellitus (DM) e o uso de drogas em mães de crianças com fissuras orofaciais (FOF). 325 mulheres que tiveram filhos (0-3 anos) com fissuras foram entrevistadas. Os dados referentes tipo de diabetes, uso de drogas lícitas / ilícitas durante a gravidez, circunferência abdominal e glicemia em jejum na primeira consulta pré-natal foram coletados. vinte e sete por cento das mulheres tinham DM. Destes, 89% tinham DM gestacional, 5,5% DM tipo 1 e 5,5% DM

Single nucleotide polymorphism of bone morphogenetic protein 4 gene: A risk factor of non-syndromic cleft lip with or without palate

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Sathyaprasad Savitha

2015-01-01

Full Text Available Background: The bone morphogenetic protein (BMP signalling pathway is crucial in a number of developmental processes and is critical in the formation of variety of craniofacial elements including cranial neural crest, facial primordium, tooth, lip and palate. It is an important mediator in regulation of lip and palate fusion, cartilage and bone formation. Aim: To study the role of mutation of BMP4 genes in the aetiology of non-syndromic cleft lip with or without palate (NSCL ± P and identify it directly from human analyses. Materials and Methods: A case-control study was done to evaluate whether BMP4T538C polymorphism, resulting in an amino acid change of Val=Ala (V152A in the polypeptide, is associated with NSCL ± P in an Indian paediatric population. Genotypes of 100 patients with NSCL ± P and 100 controls (in whom absence of CL ± P was confirmed in three generations were detected using a polymerase chain reaction-restriction fragment length polymorphism strategy. Logistic regression was performed to evaluate allele and genotype association with NSCLP. Results: Results showed significant association between homozygous CC genotype with CL ± P (odds ratio [OR]-5.59 and 95% confidence interval [CI] = 2.85-10.99. The 538C allele carriers showed an increased risk of NSCL ± P as compared with 538 T allele (OR - 4.2% CI = 2.75-6.41. Conclusion: This study suggests an association between SNP of BMP4 gene among carriers of the C allele and increased risk for NSCLP in an Indian Population. Further studies on this aspect can scale large heights in preventive strategies for NSCLP that may soon become a reality.

Ophthalmic changes in cleft lip and palate

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Luciano Sólia Násser

2016-04-01

Full Text Available ABSTRACT The current study aimed to analyze through a literature review evidence of association between ocular changes and non-syndromic cleft lip and/or palate (NSCL/P. A literature review was carried out in accordance with the Cochrane Collaboration Group protocol. PubMed, Scopus, Academic Google and ISI Web of Science databases were systematically searched. A total of 16 studies were accessed, and three made up the final sample.All three studied ocular abnormalities in patients with NSCL/P.The articles found ocular abnormalities in 6.21%, 17.54% and 1.03% of patients respectively.The presence of ocular abnormalities in patients with NSCL/P was significant in this systematic review, but the articles all agreed that future studies should explore the possibility of a greater occurrence of ocular changes in individuals with NSCL/P.

Dermatoglyphics and Cheiloscopy as Key Tools in Resolving the Genetic Correlation of Inheritance Patterns in Cleft Lip and Palate Patients: An Assessment of 160 Patients.

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Singh, Priyankar; Nathani, Dipesh B

2017-09-01

  The objective of this study was to correlate dermatoglyphics and cheiloscopy with genetic inheritance in cleft lip and cleft palate patients.   This was a case-control study to look for asymmetry in finger and lip print patterns. All of the participants were divided into two equal groups (40 mothers and 40 fathers in each group). The data were analyzed by three evaluators who were blind to the study to avoid any chances of error.   A sample of 160 sporadic participants were identified and evaluated. Group A was composed of 80 healthy parents not affected by cleft lip and cleft palate but had at least one child born with nonsyndromic cleft. Group B consisted of 80 healthy parents not affected by cleft lip and cleft palate and had healthy children without cleft lip and cleft palate.   Main outcome measures were marked dermatoglyphic asymmetry and specific lip print pattern in the study group.   We found marked asymmetry in various fingerprints and specific type II and type III lip print in the study group when compared with the control group. It was observed that groove count on the lip was significantly more frequent in study group parents.   Our study determined that there is a significant correlation between increased dermatoglyphic asymmetry and specific type II and type III lip print pattern in parents of children born with cleft. This could act as an important screening marker for the prediction of cleft lip and cleft palate inheritance.

Profiles of orofacial dysfunction in different diagnostic groups using the Nordic Orofacial Test (NOT-S)--a review.

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Bergendal, Birgitta; Bakke, Merete; McAllister, Anita; Sjögreen, Lotta; Åsten, Pamela

2014-11-01

The Nordic Orofacial Test-Screening (NOT-S) was developed as a comprehensive method to assess orofacial function. Results from the screening protocol have been presented in 11 international publications to date. This study reviewed these publications in order to compile NOT-S screening data and create profiles of orofacial dysfunction that characterize various age groups and disorders. NOT-S results of nine reports meeting the inclusion criteria were reviewed. Seven of these studies not only provided data on the mean and range of total NOT-S scores, but also on the most common domains of orofacial dysfunction (highest rate of individuals with dysfunction scores), allowing the construction of orofacial dysfunction profiles based on the prevalence of dysfunction in each domain of NOT-S. The compiled data comprised 669 individuals, which included healthy control subjects (n = 333) and various patient groups (n = 336). All studies reported differences between individuals with diagnosed disorders and healthy control subjects. The NOT-S data could measure treatment effects and provided dysfunction profiles characterizing the patterns of orofacial dysfunction in various diagnoses. This review corroborates previous results that the NOT-S differentiates well between patients and healthy controls and can also show changes in individuals after treatment. NOT-S could be used as a standard instrument to assess orofacial dysfunction, evaluate the outcomes of oral habilitation and rehabilitation and improve comparability in clinical practice and research.

A Preliminary Investigation of NSCL/P Plasma and Urine in Guizhou Province in China Using NMR-Based Metabonomics.

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Lei, Huang Guang; Hong, Luo; Kun, Song Ju; Hai, Yin Xin; Dong, Wang Ya; Ke, Zhao; Ping, Xu; Hao, Chen

2013-09-01

Objective : To assess the feasibility of metabonomics in clinical studies. This is a pilot study introducing nuclear magnetic resonance (NMR)-based metabonomics to elucidate and compare the metabolism of patients with nonsyndromic cleft lip and/or palate (NSCL/P) and children without orofacial clefts. Methods : High-resolution (1)H NMR spectroscopy was performed on plasma and urine samples obtained from NSCL/P and healthy children. The (1)H NMR spectra were further analyzed with principal component analysis. Results : Compared to the control group, the level of low-molecular-weight metabolites in plasma such as asparagine was higher in NSCL/P patients, while arginine, lysine, acetate, lactate, proline, glutamine, pyruvate, creatinine, choline, and β-glucose were lower. The carnitine, citrate, and formate excretion in urine appeared to be higher in the healthy children, while the NSCL/P group excreted higher concentrations of aspartic acid and phenylalanine in urine. Conclusion : The present study clearly demonstrated the great potential of NMR-based metabonomics in elucidating NSCL/P plasma metabolism and the possible application of this technology in clinical diagnosis and screening.

Orofacial Pain and Mastication in Dementia.

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Lobbezoo, Frank; Delwel, Suzanne; Weijenberg, Roxane A F; Scherder, Erik J A

2017-01-01

Orofacial pain is a common condition in the general population. It is likely that this is also the case in older persons with a dementia. However, the assessment of (orofacial) pain in non-verbal individuals is hampered by the subjective nature of pain, and their limited communicative abilities. To overcome this drawback, several tools have been developed for the assessment of pain based on observations of pain-specific facial activities, body movements, and vocalizations. Unfortunately, none of the so far developed observational tools have been designed specifically for the assessment of orofacial pain. While the recent psychometric testing of the Orofacial MOBID Pain Scale did not yield reliable outcomes, the subsequently developed Orofacial Pain Scale for Non-Verbal Individuals (OPS-NVI) is currently being evaluated and shows good promise to be reliable and valid. Besides the assessment of orofacial pain, an important application of this instrument will be the investigation of the probable causal association between impaired chewing and cognitive decline, in which orofacial pain plays a mediating role by its negative influence on chewing ability. The identification of this negative influence will urge opinion leaders and policy makers to improve the oral health status in older persons with a dementia. Ultimately, pain-free oral functioning may lead to a higher quality of life and might help stabilizing or improving cognition in this frail and vulnerable patient population. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

CHRONIC UNEXPLAINED OROFACIAL PAIN

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Aleš Vesnaver

2002-04-01

Full Text Available Background. Chronic unexplained orofacial pain is frequently the cause of prolonged suffering for the patient and an unsolvable problem for the therapist. Pathophysiology of the onset of this type of pain is virtually unknown. Still, it is possible to divide chronic orofacial pain into several separate categories, according to its onset, symptoms and therapy. All forms of this type of pain have a strong psychological component.Methods. A retrograde review was conducted, in which patients’ records, treated in 1994 for chronic unexplained orofacial pain, were followed through a 5 year period. The modalities of treatment then and at present were compared.Conclusions. Except for trigeminal neuralgia, where carbamazepine remains the first choice drug, treatment of chronic facial pain has changed considerably.

Use of Psychotropic Medications and Visits to Psychiatrists and Psychologists among Individuals with Nonsyndromic Oral Clefts

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Pedersen, Dorthe Almind; Hageman, Ida; Wehby, George L

2017-01-01

BACKGROUND: Oral clefts (OCs) are among the most common congenital malformations and can have a large impact on the life of the affected individual. Research findings regarding the psychological and psychosocial consequences of OC are inconclusive. METHODS: Using Danish nationwide registers, we i...

Psychosocial effects of cleft lip and palate on Nigerians: the Ikeja-Lagos experience.

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Fadeyibi, Idowu O; Coker, Olurotimi A; Zacchariah, Matthiew P; Fasawe, Adedolapo; Ademiluyi, Samuel A

2012-02-01

We studied 116 patients who presented with cleft lip and palate (CLP) and were seen during a state-wide screening exercise for people with orofacial deformities in Ikeja-Lagos, Nigeria between May 2006 and July 2007. Detailed histories were taken and physical examinations made. The following psychometric instruments: General Health Questionnaire 28 (GHQ28), State-Trait Anxiety Inventory Y1 (STAI-Y1), STAI-Y2, and Self rating Depression Scale (SDS) were given on the respondents by a clinical psychologist. The respondents comprised 57 men and 59 women with a male:female ratio of 1:1.04. There were 42 (36%) adults and 74 (64%) children. Fifty-four (47%) patients had cleft lip (CL), 27 (23%) had cleft lip and palate (CLP), and 35 (30%) had cleft palate alone. Forty-five (39%) of the respondents were parents and guardians who responded to the presence of the deformity on behalf of children who were less than 6 years old, and assessed the reactions of those who were aged 6-12 years old. Older patients replied directly to the psychometric instruments. The outcome of the assessment of the Mental Health Profile of the participants showed high incidence of anxiety, depression, and impairment of general wellbeing. The effects were most pronounced in the 6-12 year age group. We recommend that the psychosocial impacts of CLP on the patients, parents, and relations should be managed together with the reconstructive procedures.

Morphology of bone defects in patient with unilateral cleft lip and palate. Cone beam x-ray CT evaluation

International Nuclear Information System (INIS)

Kyo, Iyu; Kubota, Masato; Sato, Yuki; Nakano, Haruhisa; Maki, Koutaro

2006-01-01

Orthodontic treatment planning of the cleft lip and palate vary according to the morphology of the alveolar bone and palatal bone. The purpose of this study is to evaluate the three-dimensional anatomy of the alveolar and palatal bone in children with complete unilateral cleft lip and palate. Thirty-three nonsyndromic consecutive patients with complete unilateral cleft lip and palate were treated by the cleft palate team at Showa University. Each patient had lip and palate surgeries at Showa University. Cone beam CT radiographs (CB MercuRay, Hitachi) were taken prior to secondary bone grafting, and were classified according to the method of Kita et al. 1997. Cone beam CT radiographs showed multiple types of alveolar and palatal bone morphology, and focused on special types described in the method of Kita et al. It was most frequently found that bone defects in the alveolar crest showed similar patterns in both buccal and palatal aspect, and the buccal bone defect in the nasal floor was larger than the palatal bone defect in the nasal floor. In 80% of the patients, the palatal bone defect showed similar patterns in both anterior and posterior aspects, and the anterior palatal bone defect was smaller than the posterior palatal bone defect. In addition, inadequate bone bridges were frequently found at the cleft site. It is suggested that patients with unilateral cleft lip and palate have various types of alveolar and palatal bone morphology, and are required to take three-dimensional radiographic X-rays prior to any orthodontic treatment. (author)

Care seeking for orofacial pain

NARCIS (Netherlands)

Rollman, A.; Visscher, C.M.; Gorter, R.C.; Naeije, M.

2012-01-01

AIMS: To determine the contribution of a wide range of factors to care-seeking behavior in orofacial pain patients, expressed as (A) decision to seek care and (B) number of health care practitioners visited. METHODS: Subjects with orofacial pain complaints were recruited in seven TMD clinics and

Cryptophthalmos and Bilateral Renal Agenesis with Cleft Lip and Palate: Fraser Syndrome: Case Report

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Emre Pabuçcu

2012-12-01

Full Text Available Fraser syndrome is a rare autosomal recessive disorder consisting of multiple anomalies including variable expression of cryptophthalmos, syndactyly, abnormal genitalia, malformations of the nose, ear and larynx, renal agenesis, oro-facial clefts, skeletal defects, umbilical hernia and mental retardation. Antenatally detected multiple congenital fetal anomalies during 22nd week of gestation is reported in this paper. Fraser Syndrome was diagnosed according to major and minor criteria. Early antenatal detection is mandatory and clinician should be awere of the high recurrence rates of this syndrome among siblings threatening subsequent pregnancies and should inform affected families.

Facts about Cleft Lip and Cleft Palate

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... Information For… Media Policy Makers Facts about Cleft Lip and Cleft Palate Language: English (US) Español (Spanish) Recommend on Facebook ... can make referrals to cleft/craniofacial treatment teams. Cleft Lip & Palate Foundation of Smiles Cleft Lip & Palate Foundation of ...

Oral health-related quality of life in youth receiving cleft-related surgery: self-report and proxy ratings.

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Broder, Hillary L; Wilson-Genderson, Maureen; Sischo, Lacey

2017-04-01

This paper evaluated the impact of cleft-related surgery on the oral health-related quality of life (OHRQoL) of youth with cleft over time. Data were derived from a 5-year, multi-center, prospective, longitudinal study of 1196 youth with cleft lip and/or palate and their caregivers. Eligible youth were between 7.5 and 18.5 years old, spoke English or Spanish, and were non-syndromic. During each observational period, which included baseline, and 1- and 2-year post-baseline follow-up visits, youths and their caregivers completed the Child Oral Health Impact Profile, a validated measure of OHRQoL. Multilevel mixed-effects models were used to analyze the effects of receipt of craniofacial surgery on OHRQoL over time. During the course of this study a total of 516 patients (43 %) received at least one surgery. Youth in the surgery recommendation group had lower self- (β = -2.18, p self- and proxy-rated OHRQoL at baseline. Both surgical and non-surgical youth (β = 3.73, p self-reported OHRQoL for youth postsurgery (β = 1.04, p self- and caregiver-rated OHRQoL when compared to non-surgical youth. Youth who underwent cleft-related surgery had significant incremental improvements in self-rated but not caregiver (proxy)-rated OHRQoL after surgery.

Is Celiac Disease an Etiological Factor in Children with Nonsyndromic Intellectual Disability?

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Sezer, Taner; Balcı, Oya; Özçay, Figen; Bayraktar, Nilufer; Alehan, Füsun

2016-03-01

To determine the prevalence of celiac disease in children and adolescents with nonsyndromic intellectual disability, we investigated serum levels of tissue transglutaminase antibody and total IgA from 232 children with nonsyndromic intellectual disability and in a healthy control group of 239 children. Study participants who were positive for tissue transglutaminase antibody underwent a duodenal biopsy. A total of 3 patients in the nonsyndromic intellectual disability group (5.45%) and 1 in the control group (0.41%) had positive serum tissue transglutaminase antibody (P > .05). Duodenal biopsy confirmed celiac disease in only 1 patient who had nonsyndromic intellectual disability. In this present study, children with nonsyndromic intellectual disability did not exhibit a higher celiac disease prevalence rate compared with healthy controls. Therefore, we suggest that screening test for celiac disease should not be necessary as a part of the management of mild and moderate nonsyndromic intellectual disability. However, cases of severe nonsyndromic intellectual disability could be examined for celiac disease. © The Author(s) 2015.

Orofacial pain management: current perspectives.

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Romero-Reyes, Marcela; Uyanik, James M

2014-01-01

Some of the most prevalent and debilitating pain conditions arise from the structures innervated by the trigeminal system (head, face, masticatory musculature, temporomandibular joint and associated structures). Orofacial pain (OFP) can arise from different regions and etiologies. Temporomandibular disorders (TMD) are the most prevalent orofacial pain conditions for which patients seek treatment. Temporomandibular disorders include a number of clinical problems that involve the masticatory musculature, the temporomandibular joint (TMJ) or both. Trigeminal neuropathic pain conditions can arise from injury secondary to dental procedures, infection, neoplasias, or disease or dysfunction of the peripheral and/or central nervous system. Neurovascular disorders, such as primary headaches, can present as chronic orofacial pain, such as in the case of facial migraine, where the pain is localized in the second and third division of the trigeminal nerve. Together, these disorders of the trigeminal system impact the quality of life of the sufferer dramatically. A multidisciplinary pain management approach should be considered for the optimal treatment of orofacial pain disorders including both non-pharmacological and pharmacological modalities.

Orofacial syndromes: A review

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N Shyam Sunder

2011-01-01

Full Text Available A syndrome is a set of signs and symptoms that tend to occur together and reflect the presence of a particular disease or an increased chance of developing to a particular disease. There are numerous orofacial syndromes and a thorough knowledge of their manifestations and implications is pertinent in good oral health care delivery. The aim of this review is to describe collective esoteric knowledge, about various malformations and syndromes associated with orofacial region.

Multivariate analysis on unilateral cleft lip and palate treatment outcome by EUROCRAN index: A retrospective study.

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Yew, Ching Ching; Alam, Mohammad Khursheed; Rahman, Shaifulizan Abdul

2016-10-01

This study is to evaluate the dental arch relationship and palatal morphology of unilateral cleft lip and palate patients by using EUROCRAN index, and to assess the factors that affect them using multivariate statistical analysis. A total of one hundred and seven patients from age five to twelve years old with non-syndromic unilateral cleft lip and palate were included in the study. These patients have received cheiloplasty and one stage palatoplasty surgery but yet to receive alveolar bone grafting procedure. Five assessors trained in the use of the EUROCRAN index underwent calibration exercise and ranked the dental arch relationships and palatal morphology of the patients' study models. For intra-rater agreement, the examiners scored the models twice, with two weeks interval in between sessions. Variable factors of the patients were collected and they included gender, site, type and, family history of unilateral cleft lip and palate; absence of lateral incisor on cleft side, cheiloplasty and palatoplasty technique used. Associations between various factors and dental arch relationships were assessed using logistic regression analysis. Dental arch relationship among unilateral cleft lip and palate in local population had relatively worse scoring than other parts of the world. Crude logistics regression analysis did not demonstrate any significant associations among the various socio-demographic factors, cheiloplasty and palatoplasty techniques used with the dental arch relationship outcome. This study has limitations that might have affected the results, example: having multiple operators performing the surgeries and the inability to access the influence of underlying genetic predisposed cranio-facial variability. These may have substantial influence on the treatment outcome. The factors that can affect unilateral cleft lip and palate treatment outcome is multifactorial in nature and remained controversial in general. Copyright © 2016 Elsevier Ireland Ltd. All

Intravelar veloplasty in cleft lip, alveolus and palate and outcome of speech and language acquisition: a prospective study.

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Bitter, Klaus; Wegener, Carla; Gomille, Nadine

2003-12-01

Speech and language acquisition are major, important criteria in the treatment outcomes of cleft lip and palate patients. A generally accepted and definitive treatment protocol regarding surgical techniques and the time schedule does not yet exist. In the world literature, there are reports of velo-pharyngeal insufficiency rates between 7 and 30%. In a prospective study, all children aged 312 months with cleft lip, alveolus and palate, or cleft palate only, underwent an intravelar veloplasty. Follow-up monitoring consisted of frequent clinical linguistic checks and supervision of language development without a planned intention of articulation therapy before the age of about 5 years. Three hundred and ninety-seven children with non-syndromic clefts were included in this study, the youngest being 8-year old. Sixty children (15%) showed deviations in language and speech acquisition. From these, 56 (14%) had received articulation therapy after the 5th birthday. From these 56 children, 45 had overcome their problems with speech therapy alone whereas 11 (3%) needed a velo-pharyngeoplasty. Although these results are much better than those reported in other cohorts, some children still have velo-pharyngeal incompetence for no apparent reason. One possible explanation might be surgical, since on occasions, the intravelar muscle bundle is divided into two parts and the palato-pharyngeal part runs isolated more laterally and can be missed during reconstruction and retropositioning.

Dental arch relationship in children with complete unilateral cleft lip and palate following Warsaw (one-stage repair) and Oslo protocols.

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Fudalej, Piotr; Hortis-Dzierzbicka, Maria; Dudkiewicz, Zofia; Semb, Gunvor

2009-11-01

To compare the dental arch relationship following one-stage repair of unilateral cleft lip and palate (UCLP) in Warsaw with a matched sample of patients treated by the Oslo Cleft Team. Study models of 61 children (mean age, 11.2; SD, 1.7) with a nonsyndromic complete UCLP consecutively treated with one-stage closure of the cleft at 9.2 months (range, 6.0 to 15.8 months; SD, 2.0) by the Warsaw Cleft Team at the Institute of Mother and Child, Poland, were compared with a sample drawn from a consecutive series of patients with UCLP treated by the Oslo Cleft Team and matched for age, gender, and soft tissue band. The study models were given random numbers to blind their origin. Four examiners rated the dental arch relationship using the GOSLON Yardstick. The strength of agreement of rating was assessed with weighted Kappa statistics. An independent t-test was carried out to compare the GOSLON scores between Warsaw and Oslo samples, and Fisher's exact tests were performed to evaluate the difference of distribution of the GOSLON scores. The intrarater and interrater agreements were high (K > or = .800). No difference in dental arch relationship between Warsaw and Oslo groups was found (mean GOSLON score = 2.68 and 2.65 for Warsaw and Oslo samples, respectively). The distribution of the GOSLON grades was similar in both groups. The dental arch relationship following one-stage repair (Warsaw protocol) was comparable with the outcome of the Oslo Cleft Team's protocol.

A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate

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Regina Ferreira Rezek

2014-01-01

Full Text Available We present a rare case of 8q interstitial duplication derived from maternal balanced translocations in a patient with bilateral cleft lip and palate in syndromic form associated with other congenital malformations. G-banding cytogenetic analysis revealed a chromosomal abnormality in the form of the karyotype 46,XX der(22t(8;22(q22.1;p11.1mat. Chromosome microarray analysis evidenced a 49 Mb duplicated segment of chromosome 8q with no pathogenic imbalances on chromosome 22. Two siblings also carry the balanced translocation. We have compared this case with other “pure” trisomies of 8q patients reported in the literature and with genome wide association studies recently published. This work highlights the involvement of chromosome 8q in orofacial clefts.

Clefting of the Alveolus: Emphasizing the Distinction from Cleft Palate.

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Wirtz, Nicholas; Sidman, James; Block, William

2016-05-01

Oral clefting is one of the most common significant fetal abnormalities. Cleft lip and cleft palate have drastically different clinical ramifications and management from one another. A cleft of the alveolus (with or without cleft lip) can confuse the diagnostic picture and lead to a false assumption of cleft palate. The cleft alveolus should be viewed on the spectrum of cleft lip rather than be associated with cleft palate. This is made evident by understanding the embryological development of the midface and relevant terminology. Cleft alveolus carries significantly different clinical implications and treatment options than that of cleft palate. Accurately distinguishing cleft alveolus from cleft palate is crucial for appropriate discussions regarding the patient's care. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Orofacial pain: a guide for the headache physician.

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Shephard, Martina K; Macgregor, E Anne; Zakrzewska, Joanna M

2014-01-01

Orofacial pain represents a significant burden in terms of morbidity and health service utilization. It includes very common disorders such as toothache and temporomandibular disorders, as well as rare orofacial pain syndromes. Many orofacial pain conditions have overlapping presentations, and diagnostic uncertainty is frequently encountered in clinical practice. This review provides a clinically orientated overview of common and uncommon orofacial pain presentations and diagnoses, with an emphasis on conditions that may be unfamiliar to the headache physician. A holistic approach to orofacial pain management is important, and the social, cultural, psychological and cognitive context of each patient needs to be considered in the process of diagnostic formulation, as well as in the development of a pain management plan according to the biopsychosocial model. Recognition of psychological comorbidities will assist in diagnosis and management planning. © 2013 American Headache Society.

The maternal homocysteine pathway is influenced by riboflavin intake and MTHFR polymorphisms without affecting the risk of orofacial clefts in the offspring.

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Vujkovic, M; Steegers, E A; van Meurs, J; Yazdanpanah, N; van Rooij, I A; Uitterlinden, A G; Steegers-Theunissen, R P

2010-03-01

Riboflavin is a cofactor for the 5,10-methylenetetrahydrofolate reductase (MTHFR) enzyme involved in the homocysteine pathway. The aim of this study was to investigate the effects of maternal riboflavin intake and two MTHFR polymorphisms (677C>T; Ala222Val and 1298A>C; Glu429Ala substitutions) on the biomarkers of the homocysteine pathway, and investigate the risk of having offspring with an orofacial cleft (OFC). In a case-control study design, dietary riboflavin intake and the MTHFR 677C>T and 1298A>C polymorphisms were evaluated in 123 OFC and 108 control mothers by using food frequency questionnaires and blood samples. Homocysteine (tHcy), folate and vitamin B12 concentrations in blood were analyzed in 70 cases and 68 controls. Linear and logistic regression analyses were applied. At 14 months postpartum riboflavin intake and MTHFR 677C>T and 1298A>C genotypes were not significantly different between cases and controls. The 677TT genotype showed lower folate concentrations compared to C-allele carriers with a mean difference of 2.8 nmol/l in serum and 174 nmol/l in red blood cell (both P's=0.01). Every mg per day increase of dietary riboflavin intake was positively associated with increase in vitamin B12 concentration by 52.1% (Priboflavin-adjusted MTHFR 677TT and 1298CC genotypes showed a trend toward an increasing risk for OFC, adjusted odds ratio 1.7 (confidence interval (95% CI), 0.7-4.5) and 1.6 (95% CI, 0.7-4.2), respectively. Maternal riboflavin intake is significantly associated with biomarkers of the homocysteine pathway, with the strongest effects in MTHFR 677TT homozygotes. The maternal risk of having OFC offspring, however, is not associated with dietary riboflavin intake.

Incisor and molar overjet, arch contraction, and molar relationship in the mixed dentition in repaired complete unilateral cleft lip and palate: A qualitative and quantitative appraisal.

Science.gov (United States)

Disthaporn, Suteeta; Suri, Sunjay; Ross, Bruce; Tompson, Bryan; Baena, Diogenes; Fisher, David; Lou, Wendy

2017-07-01

To compare the mixed dentition incisor and molar overjet, severity of contraction of the dental arch, and the sagittal molar relationship on the cleft side vs the noncleft side in children with repaired complete unilateral cleft of the lip and palate (UCLP). Orthodontic records taken prior to orthodontic preparation for alveolar bone grafting were screened to select study casts from patients with nonsyndromic repaired complete UCLP who did not have mandibular skeletal or dental asymmetry. The study sample comprised dental casts from 74 children aged 8.9 ± 1 years. Standardized digital photographs were acquired at 1:1 magnification. A coordinate system was developed using digital image-processing software (Photoshop CS4 and Adobe Illustrator). Incisor and molar overjet, Angle's classification, and arch contraction were recorded. Descriptive statistics, paired t-tests, and kappa statistics were used to compare the cleft and noncleft sides. A negative overjet of -1 to -5 mm was often present at the incisors, with greater frequency and magnitude on the cleft side. Class II molar relation was more frequent on the cleft side (61.1%) than on the noncleft side (47.2%). Significantly greater contraction of the cleft side deciduous canine and deciduous first molar was noted, while the difference was very minor at the first permanent molar. Cleft side maxillary arch contraction was most severe in the deciduous canine and first deciduous molar region and progressively less severe in the posterior region of the arch. A greater frequency and severity of negative overjet and Class II molar relationship was seen on the cleft side.

Efficacy of antidepressants on orofacial pain: a systematic review

NARCIS (Netherlands)

Martin, W.J.J.M.; Perez, R.S.G.M.; Tuinzing, D.B.; Forouzanfar, T.

2012-01-01

Orofacial pain is a common complaint with multiple diagnoses. There is controversy about the effectiveness of antidepressants for the management of orofacial pain disorders. In order to be able to make a best evidence choice between available antidepressants for the treatment of orofacial pain, a

Orofacial manifestations of hematological disorders: Anemia and hemostatic disorders

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Titilope A Adeyemo

2011-01-01

Full Text Available The aim of this paper is to review the literature and identify orofacial manifestations of hematological diseases, with particular reference to anemias and disorders of hemostasis. A computerized literature search using MEDLINE was conducted for published articles on orofacial manifestations of hematological diseases, with emphasis on anemia. Mesh phrases used in the search were: oral diseases AND anaemia; orofacial diseases AND anaemia; orofacial lesions AND anaemia; orofacial manifestations AND disorders of haemostasis. The Boolean operator "AND" was used to combine and narrow the searches. Anemic disorders associated with orofacial signs and symptoms include iron deficiency anemia, Plummer-Vinson syndrome, megaloblastic anemia, sickle cell anemia, thalassaemia and aplastic anemia. The manifestations include conjunctiva and facial pallor, atrophic glossitis, angular stomatitis, dysphagia, magenta tongue, midfacial overgrowth, osteoclerosis, osteomyelitis and paraesthesia/anesthesia of the mental nerve. Orofacial petechiae, conjunctivae hemorrhage, nose-bleeding, spontaneous and post-traumatic gingival hemorrhage and prolonged post-extraction bleeding are common orofacial manifestations of inherited hemostatic disorders such as von Willebrand′s disease and hemophilia. A wide array of anemic and hemostatic disorders encountered in internal medicine has manifestations in the oral cavity and the facial region. Most of these manifestations are non-specific, but should alert the hematologist and the dental surgeon to the possibilities of a concurrent disease of hemopoiesis or hemostasis or a latent one that may subsequently manifest itself.

Orofacial pain management: current perspectives

OpenAIRE

Romero-Reyes, Marcela; Uyanik, James M

2014-01-01

Marcela Romero-Reyes, James M Uyanik Orofacial and Head Pain Service, Department of Oral and Maxillofacial Pathology Radiology and Medicine, New York University College of Dentistry, New York, NY, USA Abstract: Some of the most prevalent and debilitating pain conditions arise from the structures innervated by the trigeminal system (head, face, masticatory musculature, temporomandibular joint and associated structures). Orofacial pain (OFP) can arise from different regions and etiologies. Tem...

Orofacial pain

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Marjolijn Oomens

2016-06-01

Full Text Available In the primary care sector, diagnosis and initial management of orofacial pain are often performed by familydoctors and dentists. Knowledge of the different types of orofacial pain and headache disorders is therefor of great importance. The International Classification of Headache Disorders (ICHD-3 provides an overview of the different types of orofacial pain and will be discussed in this lecture. The main focus will be on trigeminal neuralgia and cluster headache and the current research in this field. Trigeminal Neuralgia (TN is defined as a disorder characterized by recurrent, unilateral, brief, electricshock-like pains, abrupt in onset and termination, limited to the distribution of one or more divisions of thetrigeminal nerve and triggered by innocuous stimuli. Unfortunately, most TN is idiopathic, and the aetiology isnot clear. The guidelines on pharmaceutical TN management published by the American Academy of Neurology (AAN and the European Federation of Neurological Societies (EFNS recommend carbamazepine (CBZ; 200–1200 mg/day or oxcarbazepine (OXC; 600–1800 mg/day as first-line therapy. Both are antiepileptics with well known interactions with other drugs and safety problems. An overview of the currently available literature on the pharmaceutical management of TN patients is discussed. Cluster headache (CH is one of the most painful primary headache disorders. It is characterized by daily or almost daily attacks of unilateral excruciating periorbital pain associated with ipsilateral cranial autonomic symptoms, typically lasting between 15 and 180 minutes if untreated. Cluster headache is caused by the relaesement of neurotransmitters and vasodilators from the sphenopalatine ganglion (SPH. The SPG is a large extracranial parasympathetic ganglion located in the pterygopalatine fossa (PPF. The current treatments for CH attacks are injectable sumatriptan and oxygen inhalation. Both treatments have well known side effects and

Speech and orofacial apraxias in Alzheimer's disease.

Science.gov (United States)

Cera, Maysa Luchesi; Ortiz, Karin Zazo; Bertolucci, Paulo Henrique Ferreira; Minett, Thaís Soares Cianciarullo

2013-10-01

Alzheimer's disease (AD) affects not only memory but also other cognitive functions, such as orientation, language, praxis, attention, visual perception, or executive function. Most studies on oral communication in AD focus on aphasia; however, speech and orofacial apraxias are also present in these patients. The aim of this study was to investigate the presence of speech and orofacial apraxias in patients with AD with the hypothesis that apraxia severity is strongly correlated with disease severity. Ninety participants in different stages of AD (mild, moderate, and severe) underwent the following assessments: Clinical Dementia Rating, Mini-Mental State Examination, Lawton Instrumental Activities of Daily Living, a specific speech and orofacial praxis assessment, and the oral agility subtest of the Boston diagnostic aphasia examination. The mean age was 80.2 ± 7.2 years and 73% were women. Patients with AD had significantly lower scores than normal controls for speech praxis (mean difference=-2.9, 95% confidence interval (CI)=-3.3 to -2.4) and orofacial praxis (mean difference=-4.9, 95% CI=-5.4 to -4.3). Dementia severity was significantly associated with orofacial apraxia severity (moderate AD: β =-19.63, p= 0.011; and severe AD: β =-51.68, p speech apraxia severity (moderate AD: β = 7.07, p = 0.001; and severe AD: β =8.16, p Speech and orofacial apraxias were evident in patients with AD and became more pronounced with disease progression.

Patterns of Cleft Lip and Cleft Palate in Northern Pakistan

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Mansoor Khan

2012-04-01

Results: A total of 159 patients of cleft lip and cleft palate deformities were included in the study, having a mean age of 3.5+6.59 years and containing 59.1% males and 40.9% females with a ratio of 1.4:1. A cleft lip with palate, cleft palate and cleft lip were found in 51.6%, 31.4% and 17% of cases, respectively. Left-sided clefts were most common in the cleft lip with palate and the isolated cleft lip deformity. A cleft lip with palate was a male dominant variety (62.8% of cases, while in the cleft palate variety, the dominant gender was female. In 61.6% of cases, the parent had a consanguineous relationship. In 21.4% of cases, family history was positive for the cleft lip/palate. Other congenital anomalies were associated in 10.7% of cases. Conclusion: Cleft deformities of the lip and palate affect the male population more than females with cleft lips, in association with a cleft palate being the most common anomaly. Females are mainly affected by an isolated cleft palate. The high prevalence of these deformities in consanguineous marriages emphasizes educating people. The lower number of patients from distant distracts of Northern Pakistan calls for the attention of the health department. [Arch Clin Exp Surg 2012; 1(2.000: 63-70

Position paper: appropriate use of pharmacotherapeutic agents by the orofacial pain dentist.

Science.gov (United States)

Heir, Gary M; Haddox, J David; Crandall, Jeffrey; Eliav, Eli; Radford, Steven Graff; Schwartz, Anthony; Jaeger, Bernadette; Ganzberg, Steven; Aquino, Carlos M; Benoliel, Rafael

2011-01-01

Orofacial Pain Dentistry is concerned with the prevention, evaluation, diagnosis, treatment, and management of persistent and recurrent orofacial pain disorders. The American Dental Association, through the Commission on Dental Accreditation (CODA), now recognizes Orofacial Pain as an area of advanced education in Dentistry. It is mandated by CODA that postgraduate orofacial pain programs be designed to provide advanced knowledge and skills beyond those of the standard curriculum leading to the DDS or DMD degrees. Postgraduate programs in orofacial pain must include specific curricular content to comply with CODA standards. The intent of CODA standards is to assure that training programs develop specific educational goals and objectives that describe the student/resident’s expected knowledge and skills upon successful completion of the program. A standardized core curriculum, required for accreditation of dental orofacial pain training programs, has now been adopted.Among the various topics mandated in the curriculum are pharmacology and, specifically, pharmacotherapeutics. The American Academy of Orofacial Pain (AAOP) recommends, and the American Board of Orofacial Pain (ABOP) requires, that the minimally competent orofacial pain dentist* be knowledgeable in the management of orofacial pain conditions using medications when indicated. Basic knowledge of the appropriate use of pharmacotherapeutics is essential for the orofacial pain dentist and, therefore, constitutes part of the examination specifications of the ABOP. The minimally competent orofacial pain clinician must demonstrate knowledge, diagnostic skills, and treatment expertise in many areas, such as musculoskeletal, neurovascular, and neuropathic pain syndromes; sleep disorders related to orofacial pain; orofacial dystonias; and intraoral, intracranial, extracranial, and systemic disorders that cause orofacial pain or dysfunction. The orofacial pain dentist has the responsibility to diagnose and treat

Genetics Home Reference: nonsyndromic holoprosencephaly

Science.gov (United States)

... brain divides into two halves ( hemispheres ) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish ...

Periconceptional folic acid associated with an increased risk of oral clefts relative to non-folate related malformations in the Northern Netherlands: a population based case-control study

International Nuclear Information System (INIS)

Rozendaal, Anna M.; Essen, Anthonie J. van; Meerman, Gerard J. te; Bakker, Marian K.; Biezen, Jan J. van der; Goorhuis-Brouwer, Sieneke M.; Vermeij-Keers, Christl; Walle, Hermien E. K. de

2013-01-01

Periconceptional folic acid has been associated with a reduced risk of neural tube defects, but findings on its effect in oral clefts are largely inconclusive. This case-control study assesses the effects of periconceptional folic acid on cleft risk, using complementary data from the Dutch Oral Cleft Registry and a population-based birth defects registry (Eurocat) of children and foetuses born in the Northern Netherlands between 1997 and 2009. Cases were live-born infants with non-syndromic clefts (n = 367) and controls were infants or foetuses with chromosomal/syndromal (n = 924) or non-folate related anomalies (n = 2,021). We analyzed type/timing/duration of supplement use related to traditional cleft categories as well as to their timing (early/late embryonic periods) and underlying embryological processes (fusion/differentiation defects). Consistent supplement use during the aetiologically relevant period (weeks 0–12 postconception) was associated with an increased risk of clefts (adjusted odds ratio 1.72, 95 % confidence interval 1.19–2.49), especially of cleft lip/alveolus (3.16, 1.69–5.91). Further analysis systematically showed twofold to threefold increased risks for late differentiation defects—mainly clefts of the lip/alveolus—with no significant associations for early/late fusion defects. Effects were attributable to folic acid and not to other multivitamin components, and inclusion of partial use (not covering the complete aetiologically relevant period) generally weakened associations. In conclusion, this study presents several lines of evidence indicating that periconceptional folic acid in the Northern Netherlands is associated with an increased risk of clefts, in particular of cleft lip/alveolus. This association is strengthened by the specificity, consistency, systematic pattern, and duration of exposure-response relationship of our findings, underlining the need to evaluate public health strategies regarding folic acid and to

Non-syndromic retinitis pigmentosa

NARCIS (Netherlands)

Verbakel, S.K. (Sanne K.); R.A.C. van Huet (Ramon A. C.); C.J.F. Boon (Camiel); A.I. Hollander (Anneke); R.W.J. Collin (Rob); C.C.W. Klaver (Caroline); C. Hoyng (Carel); R. Roepman (Ronald); B.J. Klevering (Jeroen)

2018-01-01

textabstractRetinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. Although the majority of RP cases are non-syndromic,

Posttraumatic Stress Disorder and Orofacial Pain

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Natalija Prica

2015-01-01

Full Text Available Chronic orofacial pain occurs frequently in patients with posttraumatic stress disorder (PTSD and at the same time any pathological process involving orofacial area can be reflected in emotional interpretation of pain and can trigger a series of reactions associated with the PTSD group of symptoms in patients with PTSD. Painful stimuli caused in this way may occur after the primary cause ceased, and because of convergence can cause referred pain outside of the anatomical site where the primary injury occurred. Chronic orofacial pain and PTSD are diagnosed on the basis of subjective testimony and this regularly occurs in the context of social interaction between patients, doctors, medical staff or researchers making it difficult to standardize the results and introduces many cultural phenomena.

Orofacial trauma in rural India: A clinical study

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Sunita Malik

2017-08-01

Conclusion: This study highlights the importance of department of dental surgery along with other disciplinaries in the management of orofacial injuries. Road-side accident remains the major etiological factor of orofacial injuries in our setting.

Maxillofacial growth and speech outcome after one-stage or two-stage palatoplasty in unilateral cleft lip and palate. A systematic review.

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Reddy, Rajgopal R; Gosla Reddy, Srinivas; Vaidhyanathan, Anitha; Bergé, Stefaan J; Kuijpers-Jagtman, Anne Marie

2017-06-01

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. An electronic search was performed in PubMed/old MEDLINE, the Cochrane Library, EMBASE, Scopus and CINAHL databases for publications between 1960 and December 2015. Publications before 1950-journals of plastic and maxillofacial surgery-were hand searched. Additional hand searches were performed on studies mentioned in the reference lists of relevant articles. Search terms included unilateral, cleft lip and/or palate and palatoplasty. Two reviewers assessed eligibility for inclusion, extracted data, applied quality indicators and graded level of evidence. Twenty-six studies met the inclusion criteria. All were retrospective and non-randomized comparisons of one- and two-stage palatoplasty. The methodological quality of most of the studies was graded moderate to low. The outcomes concerned the comparison of one- and two-stage palatoplasty with respect to growth of the mandible, maxilla and cranial base, and speech and fistula formation. Due to the lack of high-quality studies there is no conclusive evidence of a relationship between one- or two-stage palatoplasty and facial growth, speech and fistula formation in patients with unilateral cleft lip and palate. Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Cleft Lip and Cleft Palate

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... refers to a cleft in the lip only accounting for 20 percent of all clefts. What causes ... malformation of the upper airway can affect the function of the Eustachian tube and increase the possibility ...

School performance for children with cleft lip and palate: a population-based study.

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Bell, J C; Raynes-Greenow, C; Turner, R; Bower, C; Dodson, A; Nicholls, W; Nassar, N

2017-03-01

Educational attainment is important in shaping young people's life prospects. To investigate whether being born with orofacial cleft (OFC) affects school performance, we compared school test results between children born with and without OFC. Using record-linked datasets, we conducted a population-based cohort study of children liveborn in Western Australia 1980-2010 with a diagnosis of OFC on the Register of Developmental Anomalies, and a random sample of 6603 children born without OFC. We compared odds ratios for meeting national minimum standards in five domains (reading, numeracy, writing, spelling, grammar and punctuation), and adjusted OR (aOR) for children with cleft lip only (CLO), cleft lip and palate (CL + P) and cleft palate only (CPO) for each domain. Results from two testing programs (WALNA and NAPLAN) were available for 3238 (89%) children expected to participate. Most met the national minimum standards. Compared with children without OFC, children with CPO were less likely to meet minimum standards for NAPLAN reading (aOR 0.57 [95%CI 0.34, 0.96]) grammar and punctuation (aOR 0.49 [95%CI 0.32, 0.76]), WALNA writing (aOR 0.66 [95%CI 0.47, 0.92]), and WALNA and NAPLAN numeracy (aOR 0.64 [95%CI 0.43, 0.95] and aOR 0.47 [95%CI 0.28, 0.82]), respectively. Children with CL + P had significantly lower odds for reaching the spelling standard in NAPLAN tests (aOR 0.52 [95%CI 0.29, 0.94]). Children with CLO had similar odds for reaching all minimum standards. Children born with OFC, particularly children with CPO, should be monitored to identify learning difficulties early, to enable intervention to maximize school attainment. © 2016 John Wiley & Sons Ltd.

Scandcleft randomised trials of primary surgery for unilateral cleft lip and palate: 10. Parental perceptions of appearance and treatment outcomes in their 5-year-old child.

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Feragen, Kristin Billaud; Semb, Gunvor; Heliövaara, Arja; Lohmander, Anette; Johannessen, Emma Christine; Boysen, Betty Marie; Havstam, Christina; Lundeborg, Inger; Nyberg, Jill; Pedersen, Nina-Helen; Bogh-Nielsen, Joan; Eyres, Philip; Bradbury, Eileen; Rumsey, Nichola

2017-02-01

Few studies have explored children's emotional and behavioural reactions to cleft surgery and treatment-related stress. The objective was to investigate parents' evaluations of appearance and treatment outcomes in their 5-year-old child with unilateral cleft lip and palate (UCLP), and their perceptions of how their child was coping with treatment, comparing this information with recorded postsurgical complications. Three parallel group randomised clinical trials were undertaken as an international multicentre study by 10 cleft teams in five countries: Denmark, Finland, Sweden, Norway, and the UK. Three different surgical procedures for primary palatal repair were tested against a common procedure in the total cohort of 448 children born with a non-syndromic UCLP. A total of 356 parents completed the Scandcleft Parent Questionnaire, and 346 parents completed the Cleft Evaluation Profile. The results indicated that the majority of parents were satisfied with cleft-related features of their child's appearance. Further, most children coped well with treatment according to their parents. Nevertheless, 17.5% of the children showed minor or short-term reactions after treatment experiences, and 2% had major or lasting difficulties. There were no significant relationships between parent perceptions of treatment-related problems and the occurrence of post-surgical medical complications. Most parents reported satisfaction with their child's appearance. However, treatment-related problems were described in some children, urging cleft centres to be aware of potential negative emotional and behavioural reactions to treatment in some young children, with a view to preventing the development of more severe treatment-related anxiety. ISRCTN29932826.

Orofacial esthetics and dental anxiety: associations with oral and psychological health.

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Carlsson, Viktor; Hakeberg, Magnus; Blomkvist, Klas; Wide Boman, Ulla

2014-11-01

Severe dental anxiety (DA) is associated with both oral health and psychosocial consequences in what has been described as a vicious circle of DA. The aim of this study was to investigate self-rated orofacial esthetics in patients with DA and its relationship to psychological and oral health. A consecutive sample of 152 adult patients who were referred or self-referred to a specialized dental anxiety clinic filled out the Orofacial Esthetic Scale (OES) as well as measurements on DA, self-rated oral health and general anxiety and depression. Clinical measures of dental status were also obtained. Compared with the general population, patients with DA had lower ratings of satisfaction on all aspects of their orofacial esthetics, which included the teeth, gingiva, mouth and face, as well as a global orofacial assessment. Furthermore, the perception of the orofacial appearance was related both to dental status and self-rated oral health, as well as to general anxiety and depression. The level of dissatisfaction with the orofacial appearance was similar for both genders, but women reported more regular dental care and better dental status. The results of this study clearly show less satisfaction with dental and facial appearance in patients with DA, and that the self-rating of orofacial esthetics is related to both oral and psychological health. The OES can be used to assess orofacial esthetics in patients with DA.

Physiotherapy: Key to the kinetics of orofacial musculature

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Amandeep Sodhi

2014-01-01

Full Text Available Orofacial pain disorders involve a variety of postural and functional disorders of the oral and craniofacial system. These disorders are multifactorial with muscular pain being the most common manifestation. Orofacial pain can interfere with the emotional, psychological and social well-being of the patient which in turn can affect the quality of life. Physiotherapy is a primary health care profession aimed at enhancing mobility, physical independence and quality of life. The purpose of this review is to provide an insight in to the role of physiotherapy in managing orofacial pain conditions. Using the phrase ′physiotherapy in orofacial conditions′ a literature search was conducted via Pubmed, Copernicus, Scopus database and Google scholar. The first reported article in Pubmed was published in 1990 and the recently reported article was in 2014. For this systematic review, seven articles from Pubmed, two from Copernicus, two from Google Scholar, and one from Scopus database were included.

Orofacial functions and oral health associated with Treacher Collins syndrome.

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Asten, Pamela; Skogedal, Nina; Nordgarden, Hilde; Axelsson, Stefan; Akre, Harriet; Sjögreen, Lotta

2013-01-01

The aim of this study was to describe orofacial features and functions and oral health associated with Treacher Collins syndrome (TCS) in relation to the variable phenotypic expression of the condition. The Nordic Orofacial Test-Screening (NOT-S), MHC Questionnaire, MHC Observation chart and clinical examinations of nasal and pharyngeal conditions and chewing and swallowing function were used to assess 19 individuals aged 5-74 years (median 34 years). TCS severity scores were calculated by a clinical geneticist. Orofacial features characterizing the study group were altered profile, increased mandibular angle, narrow hypopharynx and facial asymmetry. Basic orofacial functions such as breathing, eating, facial expression and speech were affected in all subjects demonstrating orofacial dysfunction in at least two NOT-S domains (median NOT-S total score 4/12, range 2-7). Significant correlation was found between the TCS severity scores reflecting phenotypic expression and the NOT-S total scores reflecting orofacial function. Self-reported experience of dry oral mucosa was common. Overall, dental health was good with few carious lesions diagnosed, but considerable need for orthodontic treatment was documented. Altered orofacial features and functions in TCS are common and often persist into late adolescence and adulthood. The functional level was correlated with the phenotypic variability of the condition. The standard of oral health was satisfactory. The findings indicated that individuals with TCS are likely to require lifelong health services related to their oral condition.

Chronic orofacial pain; atypical facial pain? [Chronische orofaciale pijn: atypische gezichtspijn?

NARCIS (Netherlands)

Tjakkes, G.H.; van Wijhe, M.

2006-01-01

Difficult to diagnose pain in the orofacial area may be a challenge to the dental practitioner.There still is uncertainty about the taxonomy of chronic orofacial pain, and even more so about its etiology. Treatment of chronic orofacial pain may aim at goals which are set in advance, but also at the

Continuous neurophatic orofacial pain: A retrospective study of 23 cases.

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Sotorra-Figuerola, Dídac; Sánchez-Torres, Alba; Valmaseda-Castellón, Eduard; Gay-Escoda, Cosme

2016-04-01

To determine the clinical characteristics of Continuous Neuropathic Orofacial Pain in patients that suffer Persistent Idiopathic Facial Pain (PIFP), Painful Post-Traumatic Trigeminal Neuropathy (PPTTN) or Burning Mouth Syndrome (BMS) and to describe their treatment. A retrospective observational study was made, reviewing the clinical history of the patients diagnosed with Continuous Neuropathic Orofacial Pain between 2004 and 2011 at the Orofacial Pain Unit of the Master of Oral Surgery and Implantology of the University of Barcelona and at the Orofacial Pain Unit of the Teknon Medical Center of Barcelona. The average age of the patients with Continuous Neuropathic Orofacial Pain was 54.5, with a clear female predominance (86.9%, n=20). Of all patients, 60.9% (n=14) were suffering a PIFP, 21.7% (n=5) had a BMS and 17.4% (n=4) were presenting a PPTTN. The pain quality described by the patients with Continuous Neuropathic Orofacial Pain was oppressive (43.47%, n=10), widely represented by patients with PIFP, and burning (39.13%, n=9) being the only quality that described patients with BMS. The treatment carried out with the patients was only pharmacologic. The most used drugs for the treatment of PIFP and PPTTN were clonazepam (50%, n=9) and amitriptyline (44.44%, n=8). However, a 55.5% (n=10) of the patients with PIFP or PPTTN required the association of two or more drugs for a correct pain control. All the patients with BMS responded satisfactorily to clonazepam. Continuous Neuropathic Orofacial Pain is a little known condition among the general population, physicians and dentists. This favors a late diagnosis and inaccurate treatments which entail unnecessary suffering. It is important to inform both the general population and health professionals concerning this painful condition. Continuous neuropathic orofacial pain, persistent idiopathic facial pain, painful post-traumatic trigeminal neuropathy, burning mouth syndrome, atypical odontalgia.

Orofacial piercings: perceptions of dental practitioners and piercing parlours.

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Chadwick, Barbara L; Groves, Gemma; Dransfield, Kathryn

2005-07-01

To identify the advice given by piercing parlours prior to orofacial piercing and to determine how many dental practitioners see complications from orofacial piercings. Administered questionnaire to 19 piercing parlours and postal questionnaire to 400 dental practitioners in south-east Wales. Ninety-nine per cent of 227 dental practitioners in south-east Wales had treated patients with orofacial piercings, over three-quarters had seen a patient for a complication caused by the piercing, and over half (N=120) had treated a patient for a complication of piercing. Tongue (N=225) and lip (N=209) piercings were most frequently seen and the most commonly occurring complication was fractured or cracked teeth (N=176). Almost all practitioners wanted more information on orofacial piercing and its sequelae. All 19 piercing parlours in south-east Wales warned clients about pain following piercing and 18 mentioned swelling; only four discussed possible damage to teeth and none discussed the risk of airway obstruction. Despite the concerns of dental and medical professionals orofacial piercing remains popular and the complications it causes are frequently seen by dental practitioners. There is a need for literature to assist both dental practitioners and piercers in advising and safeguarding patients.

Residential Agricultural Pesticide Exposures and Risk of Neural Tube Defects and Orofacial Clefts Among Offspring in the San Joaquin Valley of California

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Yang, Wei; Carmichael, Suzan L.; Roberts, Eric M.; Kegley, Susan E.; Padula, Amy M.; English, Paul B.; Shaw, Gary M.

2014-01-01

We examined whether early gestational exposures to pesticides were associated with an increased risk of anencephaly, spina bifida, cleft lip with or without cleft palate (CLP), or cleft palate only. We used population-based data along with detailed information from maternal interviews. Exposure estimates were based on residential proximity to agricultural pesticide applications during early pregnancy. The study population derived from the San Joaquin Valley, California (1997–2006). Analyses included 73 cases with anencephaly, 123 with spina bifida, 277 with CLP, and 117 with cleft palate only in addition to 785 controls. A total of 38% of the subjects were exposed to 52 chemical groups and 257 specific chemicals. There were relatively few elevated odds ratios with 95% confidence intervals that excluded 1 after adjustment for relevant covariates. Those chemical groups included petroleum derivatives for anencephaly, hydroxybenzonitrile herbicides for spina bifida, and 2,6-dinitroaniline herbicides and dithiocarbamates-methyl isothiocyanate for CLP. The specific chemicals included 2,4-D dimethylamine salt, methomyl, imidacloprid, and α-(para-nonylphenyl)-ω-hydroxypoly(oxyethylene) phosphate ester for anencephaly; the herbicide bromoxynil octanoate for spina bifida; and trifluralin and maneb for CLP. Adjusted odds ratios ranged from 1.6 to 5.1. Given that such odds ratios might have arisen by chance because of the number of comparisons, our study showed a general lack of association between a range of agricultural pesticide exposures and risks of selected birth defects. PMID:24553680

(-)-α-Bisabolol reduces orofacial nociceptive behavior in rodents.

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Melo, Luana Torres; Duailibe, Mariana Araújo Braz; Pessoa, Luciana Moura; da Costa, Flávio Nogueira; Vieira-Neto, Antonio Eufrásio; de Vasconcellos Abdon, Ana Paula; Campos, Adriana Rolim

2017-02-01

The purposes of this study were to evaluate the anti-nociceptive effect of oral and topical administration of (-)-α-bisabolol (BISA) in rodent models of formalin- or cinnamaldehyde-induced orofacial pain and to explore the inhibitory mechanisms involved. Orofacial pain was induced by injecting 1.5% formalin into the upper lip of mice (20 μL) or into the temporomandibular joint (TMJ) of rats (50 μL). In another experiment, orofacial pain was induced with cinnamaldehyde (13.2 μg/lip). Nociceptive behavior was proxied by time (s) spent rubbing the injected area and by the incidence of head flinching. BISA (100, 200, or 400 mg/kg p.o. or 50, 100, or 200 mg/mL topical) or vehicle was administered 60 min before pain induction. The two formulations (lotion and syrup) were compared with regard to efficacy. The effect of BISA remained after incorporation into the formulations, and nociceptive behavior decreased significantly in all tests. The high binding affinity observed for BISA and TRPA1 in the molecular docking study was supported by in vivo experiments in which HC-030031 (a TRPA1 receptor antagonist) attenuated pain in a manner qualitatively and quantitatively similar to that of BISA. Blockers of opioid receptors, NO synthesis, and K + ATP channels did not affect orofacial pain, nor inhibit the effect of BISA. In conclusion, BISA had a significant anti-nociceptive effect on orofacial pain. The effect may in part be due to TRPA1 antagonism. The fact that the effect of BISA remained after incorporation into oral and topical formulations suggests that the compound may be a useful adjuvant in the treatment of orofacial pain.

Cleft Lip and Palate

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Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during ... A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the ...

Unilateral Cleft Hand with Cleft Foot

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Baba, Asif Nazir; Bhat, Yasmeen J.; Ahmed, Sheikh Mushtaq; Nazir, Abid

2009-01-01

Congenital anomalies of the hand form an important class of congenital malformations. They have a huge functional importance because of the part played by the hand in the daily activities of a person. The deformities also have significant cosmetic significance and may also be associated with other anomalies. Amongst the congenital anomalies, central deficiency or cleft hand is relatively rare. The association of cleft foot with cleft hand is an even more rare occurance. We present a case report of a 6 year old child, born of a non-consanginous marriage, having congenital central deficiency of ipsilateral hand and foot. PMID:21475543

Psychological issues in cleft lip and cleft palate

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Sousa Avinash

2009-01-01

Full Text Available Vocational and social issues affect rehabilitation and development of patients with cleft lip and cleft palate. However, psychological problems like lowered self esteem and difficulties in social interaction have also been noted in them. Not many pediatric reconstructive surgery teams have a psychiatrist on their panel. It is likely that psychological problems are higher in incidence than literature actually suggests. Hence it is very essential that such cases are identified by the surgical team to maximize positive outcome of surgery and rehabilitation. This study discusses psychological issues revolving around cleft lip and cleft palate along with lacunae in many psychological research studies.

Prevalence of cleft lip and cleft palate in rural north-central guatemala.

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Matute, Jorge; Lydick, Elaine A; Torres, Olga R; Owen, Karen K; Jacobsen, Kathryn H

2015-05-01

To estimate the number of new cases of cleft lip and cleft palate in the department (state) of Alta Verapaz, Guatemala, in 2012. Cross-sectional survey of midwives from communities identified through a two-stage cluster-sampling process. Midwives were asked how many babies they had delivered in the past year and how many of those newborns had various types of birth defects, as illustrated in pictures. Indigenous Mayan communities in rural north-central Guatemala. Midwives (n = 129) who had delivered babies in the previous year. Reports of babies born with cleft lip and cleft palate. A 1-year prevalence rate of 18.9 per 10,000 for cleft lip and 4.7 per 10,000 for cleft palate was estimated for Alta Verapaz. None of the cases of cleft lip also had cleft palate. The indigenous communities in north-central Guatemala might have a relatively high cleft lip prevalence rate compared with the global average.

Digital Three-Dimensional Automation of the Modified Huddart and Bodenham Scoring System for Patients With Cleft Lip and Palate.

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Ma, Xinhui; Martin, Catherine; McIntyre, Grant; Lin, Ping; Mossey, Peter

2017-07-01

The modified Huddart and Bodenham scoring system assesses maxillary arch constriction and surgical outcomes in cleft lip and palate. This project automates modified Huddart and Bodenham scoring using three-dimensional digital models. Development of a novel software tool. The design, construction, development, and testing of the system was carried out at Dundee Dental Hospital. Subjects with cleft lip and palate. A plug-in has been developed using an open three-dimensional development platform: Rhinoceros, version 5 ( http://www.rhino3d.co.uk ). Users select cusps on mandibular and maxillary teeth on three-dimensional digital models. A three-dimensional cubic spline generates a mandibular curve, and a best-fit horizontal mandibular reference plane is produced using a least-squares method. Horizontal distances projected from the shortest three-dimensional distances were subsequently calculated between the maxillary cusps and the mandibular curve to calculate the modified Huddart and Bodenham score. Automatic scoring of digital models using the modified Huddart and Bodenham system produces similar results to manual scoring. By standardizing outcome assessment in cleft care, multicenter comparisons for audit and research can be simplified, allowing centers throughout the world to upload three-dimensional digital models or intraoral scans of the dental arches for remote scoring. Thereafter, these data can feed back into the global database on orofacial clefting as part of the World Health Organization's international collaborative "Global Burden of Disease" research project for craniofacial anomalies. The automated system facilitates quicker and more reliable outcome assessments by minimizing human errors.

Psychological factors in oral mucosal and orofacial pain conditions.

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Alrashdan, Mohammad S; Alkhader, Mustafa

2017-01-01

The psychological aspects of chronic pain conditions represent a key component of the pain experience, and orofacial pain conditions are not an exception. In this review, we highlight how psychological factors affect some common oral mucosal and orofacial pain conditions (namely, oral lichen planus, recurrent aphthous stomatitis, burning mouth syndrome, and temporomandibular disorders) with emphasis on the significance of supplementing classical biomedical treatment modalities with appropriate psychological counseling to improve treatment outcomes in targeted patients. A literature search restricted to reports with highest relevance to the selected mucosal and orofacial pain conditions was carried out to retrieve data.

Maxillary distraction osteogenesis versus orthognathic surgery for cleft lip and palate patients.

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Kloukos, Dimitrios; Fudalej, Piotr; Sequeira-Byron, Patrick; Katsaros, Christos

2016-09-30

Cleft lip and palate is one of the most common birth defects and can cause difficulties with feeding, speech and hearing, as well as psychosocial problems. Treatment of orofacial clefts is prolonged; it typically commences after birth and lasts until the child reaches adulthood or even into adulthood. Residual deformities, functional disturbances, or both, are frequently seen in adults with a repaired cleft. Conventional orthognathic surgery, such as Le Fort I osteotomy, is often performed for the correction of maxillary hypoplasia. An alternative intervention is distraction osteogenesis, which achieves bone lengthening by gradual mechanical distraction. To provide evidence regarding the effects and long-term results of maxillary distraction osteogenesis compared to orthognathic surgery for the treatment of hypoplastic maxilla in people with cleft lip and palate. We searched the following electronic databases: Cochrane Oral Health's Trials Register (to 16 February 2016), the Cochrane Central Register of Controlled Trials (CENTRAL) (the Cochrane Library, 2016, Issue 1), MEDLINE Ovid (1946 to 16 February 2016), Embase Ovid (1980 to 16 February 2016), LILACS BIREME (1982 to 16 February 2016), the US National Institutes of Health Ongoing Trials Register (ClinicalTrials.gov) (to 16 February 2016), and the World Health Organization (WHO) International Clinical Trials Registry Platform (to 16 February 2016). There were no restrictions regarding language or date of publication in the electronic searches. We performed handsearching of six speciality journals and we checked the reference lists of all trials identified for further studies. We included randomised controlled trials (RCTs) comparing maxillary distraction osteogenesis to conventional Le Fort I osteotomy for the correction of cleft lip and palate maxillary hypoplasia in non-syndromic cleft patients aged 15 years or older. Two review authors assessed studies for eligibility. Two review authors independently

Dor orofacial e absenteísmo em trabalhadores da indústria metalúrgica e mecânica Orofacial pain and absenteeism in workers of the metallurgic and mechanics industry

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Josimari Telino de Lacerda

2008-12-01

Full Text Available O objetivo do estudo foi verificar a prevalência de dor orofacial e sua relação com absenteísmo em trabalhadores do setor metalúrgico e mecânico do município de Xanxerê, Santa Catarina. Realizou-se um estudo transversal envolvendo todos os trabalhadores do sexo masculino (n = 480 das 13 indústrias do setor no município. As informações foram coletadas por meio de entrevistas estruturadas. Informações sócio-demográficas, prevalência, severidade e localização de dor orofacial no último semestre, bem como sobre falta ao trabalho devido à dor orofacial, compuseram o questionário. Dados de identificação, setor e turno de trabalho foram coletados nos departamentos de recursos humanos das empresas. Os dados foram analisados por meio de estatística descritiva e testes de associação de qui-quadrado de Pearson entre absenteísmo e dor orofacial. A prevalência de dor orofacial foi de 66,1%, sendo dor de dente provocada ou dor de dente espontânea os tipos mais frequentes. O absenteísmo devido a dor orofacial no último semestre foi relatado por 9,3% dos trabalhadores, mostrando-se associado à dor de dente espontânea (p The objective of this study was to assess the prevalence of orofacial pain and its association with absenteeism in worke rs of the metallurgic and mechanics industry of the city of Xanxerê, Brazil. A cross sectional study was performed involving all male workers(n=480 of the 13 industries of the sector in the city. The information was collected by means of structured interviews. Socio-demographic information, prevalence, severity and localization of orofacial pain in the last semester as well as on absenteeism due to orofacial pain formed the questionnaire. Identification data, work sector and shift were collected in the departments of human resources of the companies. The data were assessed using descriptive statistics and Pearson chi-squared tests between absenteeism and pain in the orofacial region. The

Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?

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Manuel Schiff

Full Text Available BACKGROUND: In the investigation of autism spectrum disorders (ASD, a genetic cause is found in approximately 10-20%. Among these cases, the prevalence of the rare inherited metabolic disorders (IMD is unknown and poorly evaluated. An IMD responsible for ASD is usually identified by the associated clinical phenotype such as dysmorphic features, ataxia, microcephaly, epilepsy, and severe intellectual disability (ID. In rare cases, however, ASD may be considered as nonsyndromic at the onset of a related IMD. OBJECTIVES: To evaluate the utility of routine metabolic investigations in nonsyndromic ASD. PATIENTS AND METHODS: We retrospectively analyzed the results of a metabolic workup (urinary mucopolysaccharides, urinary purines and pyrimidines, urinary creatine and guanidinoacetate, urinary organic acids, plasma and urinary amino acids routinely performed in 274 nonsyndromic ASD children. RESULTS: The metabolic parameters were in the normal range for all but 2 patients: one with unspecific creatine urinary excretion and the other with persistent 3-methylglutaconic aciduria. CONCLUSIONS: These data provide the largest ever reported cohort of ASD patients for whom a systematic metabolic workup has been performed; they suggest that such a routine metabolic screening does not contribute to the causative diagnosis of nonsyndromic ASD. They also emphasize that the prevalence of screened IMD in nonsyndromic ASD is probably not higher than in the general population (<0.5%. A careful clinical evaluation is probably more reasonable and of better medical practice than a costly systematic workup.

Periodontal CGRP contributes to orofacial pain following experimental tooth movement in rats.

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Long, Hu; Liao, Lina; Gao, Meiya; Ma, Wenqiang; Zhou, Yang; Jian, Fan; Wang, Yan; Lai, Wenli

2015-08-01

Calcitonin-related gene peptide (CGRP) plays an important role in orofacial inflammatory pain. The aim of this study was to determine whether periodontal CGRP contributes to orofacial pain induced by experimental tooth movement in rats. Male Sprague-Dawley rats were used in this study. Closed coil springs were used to deliver forces. Rats were euthanized on 0d, 1d, 3d, 5d, 7d, and 14d following experimental tooth movement. Then, alveolar bones were obtained for immunostaining of periodontal tissues against CGRP. Two hours prior to euthanasia on each day, orofacial pain levels were assessed through rat grimace scale. CGRP and olcegepant (CGRP receptor antagonist) were injected into periodontal tissues to verify the roles of periodontal CGRP in orofacial pain induced by experimental tooth movement. Periodontal CGRP expression levels and orofacial pain levels were elevated on 1d, 3d, 5d, and 7d following experimental tooth movement. The two indices were significantly correlated with each other and fitted into a dose-response model. Periodontal administration of CGRP could elevate periodontal CGRP expressions and exacerbate orofacial pain. Moreover, olcegepant administration could decrease periodontal CGRP expressions and alleviate orofacial pain. Therefore, periodontal CGRP plays an important role in pain transmission and modulation following experimental tooth movement. We suggest that it may participate in a positive feedback aiming to amplify orofacial pain signals. Copyright © 2015 Elsevier B.V. All rights reserved.

Achieved Competencies and Satisfaction in Temporomandibular Disorders and Orofacial Pain Education.

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Nordin, Sara; Dawson, Andreas; Ekberg, Ewa Carin

2016-01-01

To assess dental students' achieved competencies and perceived satisfaction with their temporomandibular disorders (TMD) and orofacial pain education and to compare these with the results of their final examination in TMD and orofacial pain. Dental students from two consecutive classes (2011/2012 and 2012/2013) at the Department of Orofacial Pain and Jaw Function at the dental school in Malmö, Sweden completed two self-evaluations, one at the beginning of semester seven and one at the end of semester eight. The questionnaire that they were given concerned achieved competencies and satisfaction with education in TMD and orofacial pain. Items focused on anatomy, physiology, and clinical training. Students estimated their competence and satisfaction on a numeric rating scale and described their idea of treating TMD and orofacial pain patients on a verbal rating scale. Outcome variables were tested with paired samples t test for differences over time and independent samples t test for between-class comparisons; both were adjusted for multiple testing with Bonferroni correction. Significant improvement in all items was observed for achieved competencies and satisfaction in both classes between semester seven and semester eight (P .05). This study has shown that expansion in undergraduate TMD and orofacial pain education at the dental school in Malmö has allowed all students to develop the same level of competence, independent of prior experience. The study also pointed out that continuous evaluation and enhancement of TMD and orofacial pain education in undergraduate dental education is beneficial.

Cleft Palate-Craniofacial Journal 50th anniversary editorial board commentary: anatomy, basic sciences, and genetics--then and now.

Science.gov (United States)

Mooney, Mark P; Cooper, Gregory M; Marazita, Mary L

2014-05-01

To celebrate the 50th year of the Cleft Palate-Craniofacial Journal we look back to where we started in 1964 and where we are now, and we speculate about directions for the future in a "Then and Now" editorial series. This editorial examines changing trends and perspectives in anatomical, basic science, and genetic studies published in this 50-year interval. In volume 1 there were 45 total papers, seven (16%) of which were peer-reviewed basic science and genetic articles published: four in anatomy, three in craniofacial biology, and none in genetics. In contrast, in volume 50, of 113 articles there were 47 (42%) peer-reviewed basic science and genetic articles published: 30 in anatomy, five in craniofacial biology, and 12 in genetics. Topical analysis of published manuscripts then and now reveal that similar topics in anatomy and craniofacial biology are still being researched today (e.g., phenotypic variability, optimal timing of surgery, presurgical orthopedics, bone grafting); whereas, most of the more recent papers use advanced technology to address old questions. In contrast, genetic publications have clearly increased in frequency during the last 50 years, which parallels advances in the field during this time. However, all of us have noticed that the more "cutting-edge" papers in these areas are not being submitted for publication to the journal, but instead to discipline-specific journals. Concerted efforts are therefore indicated to attract and publish these cutting-edge papers in order to keep the Cleft Palate-Craniofacial Journal in the forefront of orofacial cleft and craniofacial anomaly research and to provide a valuable service to American Cleft Palate-Craniofacial Association members.

Anterior crossbite, dental arch dimensions, and later need for orthognathic surgery in 6-year-old children with unilateral cleft lip and palate.

Science.gov (United States)

Heliövaara, Arja; Leikola, Junnu; Rautio, Jorma

2014-09-01

Objective : Six-year-old children with unilateral cleft lip and palate were examined to compare the prevalence of anterior crossbite and dental arch dimensions of those who later needed orthognathic surgery with the prevalence of those who did not. Design : Retrospective longitudinal study. Patients : A total of 68 consecutive nonsyndromic patients with unilateral cleft lip and palate (44 boys, 24 girls). Main Outcome Measures : Children with unilateral cleft lip and palate whose palates had been closed in one stage by the Veau-Wardill-Kilner or Cronin-Brauer V-Y pushback techniques were analyzed from dental casts taken at a mean age of 6.1 years (range, 5.7 to 6.8 years) before orthodontic treatment or bone grafting. The need for orthognathic surgery in these patients was determined from hospital records at the mean age of 18.2 years (range, 15.6 to 20.2 years). Student's t test and chi-square test were used in statistical analyses. Results : The prevalence of anterior crossbite was 62% (one or both central incisors in full crossbite). The prevalence was higher (75% versus 53%) in children later needing orthognathic surgery (28 of 68, 41%), but the difference was not significant. Nor were there significant differences in dental arch measurements between children who later needed osteotomies and those who did not or between the two modifications of the primary palatal pushback operations. Conclusions : The prevalence of anterior crossbite and the dental arch dimensions did not differ between 6-year-old children with unilateral cleft lip and palate who later needed orthognathic surgery and those who did not.

Psychometric evaluation of the Orofacial Pain Scale for Non-Verbal Individuals as a screening tool for orofacial pain in people with dementia.

Science.gov (United States)

Delwel, Suzanne; Perez, Roberto S G M; Maier, Andrea B; Hertogh, Cees M P M; de Vet, Henrica C W; Lobbezoo, Frank; Scherder, Erik J A

2018-04-29

The aim of this study was to describe the psychometric evaluation of the Orofacial Pain Scale for Non-Verbal Individuals (OPS-NVI) as a screening tool for orofacial pain in people with dementia. The OPS-NVI has recently been developed and needs psychometric evaluation for clinical use in people with dementia. The pain self-report is imperative as a reference standard and can be provided by people with mild-to-moderate cognitive impairment. The presence of orofacial pain during rest, drinking, chewing and oral hygiene care was observed in people with mild cognitive impairment (MCI) and dementia using the OPS-NVI. Participants who were considered to present a reliable self-report were asked about pain presence, and in all participants, the oral health was examined by a dentist for the presence of potential painful conditions. After item-reduction, inter-rater reliability and criterion validity were determined. The presence of orofacial pain in this population was low (0%-10%), resulting in an average Positive Agreement of 0%-100%, an average Negative Agreement of 77%-100%, a sensitivity of 0%-100% and a specificity of 66%-100% for the individual items of the OPS-NVI. At the same time, the presence of oral problems, such as ulcers, tooth root remnants and caries was high (64.5%). The orofacial pain presence in this MCI and dementia population was low, resulting in low scores for average Positive Agreement and sensitivity and high scores for average Negative Agreement and specificity. Therefore, the OPS-NVI in its current form cannot be recommended as a screening tool for orofacial pain in people with MCI and dementia. However, the inter-rater reliability and criterion validity of the individual items in this study provide more insight for the further adjustment of the OPS-NVI for diagnostic use. Notably, oral health problems were frequently present, although no pain was reported or observed, indicating that oral health problems cannot be used as a new reference

The Application of Electroanalgesia Current for the Relief of Orofacial Pain.

Science.gov (United States)

1981-09-01

A-A124 939 THE APPLICATION OF ELECTRORNALGESIA CURRENT FOR THE i/1 RELIEF OF OROFACIAL PAIN (U) OREGON UNIV HEALTH SCIENCES CENTER PORTLAND BIOPHYSICS...COVERED THE APPLICATION OF ELECTROANALGESIA CURRENT FOR Fnl-Fbur 90 and evelpmen Conand September 198 THE RELIEF OF OROFACIAL PAIN Spebr18 27. PERFORMING...of a suitable animal preparation. An excellent site to initiate orofacial pain is found in the tissue vhich also has o - timal relevance, the tooth

JUNE 2010.for Ogidi (final).cdr

African Journals Online (AJOL)

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individualism and lack of team approach as some of the problems. ... orofacial clefts in Africa: methodological ... lack of collaboration between individual biomedical scientists and ... stimulate research amongst cleft carers, in order to improve ...

Prevalence and characteristics of orofacial pain in university students.

Science.gov (United States)

Smiljic, Sonja; Savic, Sladjana; Stevanovic, Jasmina; Kostic, Mirjana

2016-01-01

This cross-sectional study investigated the characteristics and prevalence of orofacial pain, and its associations with sociodemographic characteristics, in 319 university students: 188 second-year students in the Medical Faculty and 131 students in the Faculty of Technical Sciences at the University of Kosovska Mitrovica. A specially designed questionnaire was used to assess the prevalence and characteristics of pain. Among the 319 students, 101 (32%) reported previous orofacial pain, and pain was more frequent among women (P pain and that the risk for pain development among women was 1.8 times that among men. Place of residence and relationship status were not associated with frequency of orofacial pain. The regions with the highest pain prevalences were the temporal region (7%; 95% confidence interval, 4-10%) and the region around the eye (6%; 95% confidence interval, 4-9%). The first episode of orofacial pain was less than 3 months previously in 59% of the participants, and 39% of students had sought professional medical help. (J Oral Sci 58, 7-13, 2016).

Classification of chronic orofacial pain using an intravenous diagnostic test

NARCIS (Netherlands)

Tjakkes, G. -H. E.; De Bont, L. G. M.; van Wijhe, M.; Stegenga, B.

The aim of this study was to evaluate the ability of a preliminary intravenous diagnostic test to classify chronic orofacial pain patients into different subgroups. Patients with chronic orofacial pain conditions that could not be unambiguously diagnosed. A retrospective evaluation of series of

Novel Three-Dimensional Understanding of Maxillary Cleft Distraction.

Science.gov (United States)

Vaughan, Stephen Michael; Kau, Chung How; Waite, Peter Daniel

2016-09-01

To set forth a universal standard methodology for quantifying volumetric and linear changes in the craniofacial complex, utilizing three-dimensional data captured from a cleft-lip palate patient who underwent rigid external device (RED) distraction. Cone beam computed tomography images of a 14-year-old patient were captured using a Kodak 9500 (Atlanta, GA) Cone Beam system device and a stereophotogrammetric system (3dMDface(TM) Atlanta, GA). The subject was a nonsyndromic unilateral cleft-lip palate patient who received RED distraction as part of maxillary advancement in conjunction with orthodontic treatment. Preop (T1) and postop (T2) images were superimposed using Invivo 5.2.3 (San Jose, CA) software. Volumetric rendering of the airway, bone, and soft tissues, as well as linear measurements were analyzed. Each measurement was captured 10 times to ensure reliability and reproducibility of methodology. Data from T1 to T2 revealed mean differences as follows: airway total volume +5250 mm, minimum cross-sectional area +67.84 mm; bone +1719 mm, soft tissue +44,432 mm. Mean of linear measurements: Pronasale 1.98 mm, Subnasale 3.35 mm, Labial superius 10.79 mm, Labial inferius 4.13 mm, Right alare 5.71 mm, Right cheilion 7.83 mm, Left alare 4.97 mm, Left cheilion 5.50 mm, Pogonion 3.01 mm, B-point 2.49 mm, U1-U1 9.77 mm, and L1-L1 0.00 mm. P values are distractions in a three-dimensional format. A universal standard analysis of the craniofacial complex can be implemented using the techniques and method outlined in this study.

The Neurobiology of Orofacial Pain and Sleep and Their Interactions.

Science.gov (United States)

Lavigne, G J; Sessle, B J

2016-09-01

This article provides an overview of the neurobiology of orofacial pain as well as the neural processes underlying sleep, with a particular focus on the mechanisms that underlie pain and sleep interactions including sleep disorders. Acute pain is part of a hypervigilance system that alerts the individual to injury or potential injury of tissues. It can also disturb sleep. Disrupted sleep is often associated with chronic pain states, including those that occur in the orofacial region. The article presents many insights that have been gained in the last few decades into the peripheral and central mechanisms involved in orofacial pain and its modulation, as well as the circuits and processes in the central nervous system that underlie sleep. Although it has become clear that sleep is essential to preserve and maintain health, it has also been found that pain, particularly chronic pain, is commonly associated with disturbed sleep. In the presence of chronic pain, a circular relationship may prevail, with mutual deleterious influences causing an increase in pain and a disruption of sleep. This article also reviews findings that indicate that reducing orofacial pain and improving sleep need to be targeted together in the management of acute to chronic orofacial pain states in order to improve an orofacial pain patient's quality of life, to prevent mood alterations or exacerbation of sleep disorder (e.g., insomnia, sleep-disordered breathing) that can negatively affect their pain, and to promote healing and optimize their health. © International & American Associations for Dental Research 2016.

Occlusal stabilization splint therapy in orofacial pain and tension-type headache.

Science.gov (United States)

Kostrzewa-Janicka, J; Mierzwinska-Nastalska, E; Rolski, D; Szczyrek, P

2013-01-01

Studies suggest an association between orofacial pain, accompanying temporomandibular disorders of myogenous origin, and headache, especially its tension-type. The occlusal appliance therapy is one of the options for the treatment of orofacial pain due to masticatory muscles tenderness. The aim of the present study was to assess the effectiveness of occlusal stabilization splint therapy in myofascial pain and tension-type headache in patients with sleep-disordered breathing. Forty three such patients were enrolled into the study group. The patients were treated with stabilization occlusal splint of vertical thickness at vertical jaw separation, established individually for each patient using a cephalometric analysis. The intensity of orofacial pain (numeric rating scale) and headache (analog rating scale), frequency of headache (%), and jaw qualitative function were assessed at baseline and after 2 and 6 months. Medians of headache and orofacial pain intensity were reduced after 6 months of treatment compared with baseline: 6.0 vs. 2.0 (p Pain decreased below 3 score points in 61.8 % of the patients with headache (p = 0.23) and in 85.3 % of patients with orofacial pain (p orofacial pain was observed 81.4 % of patients after using occlusal stabilization splint for 6 months. We conclude that occlusal stabilization splint was effective in reducing painful symptoms of temporomandibular disorders of myogenous origin, a frequent feature of sleep disordered breathing.

Effects of intra-hippocampal microinjection of vitamin B12 on the orofacial pain and memory impairments induced by scopolamine and orofacial pain in rats.

Science.gov (United States)

Erfanparast, Amir; Tamaddonfard, Esmaeal; Nemati, Shaghayegh

2017-03-01

In the present study, we investigated the effects of microinjection of vitamin B 12 into the hippocampus on the orofacial pain and memory impairments induced by scopolamine and orofacial pain. In ketamine-xylazine anesthetized rats, the right and left sides of the dorsal hippocampus (CA1) were implanted with two guide cannulas. Orofacial pain was induced by subcutaneous injection of formalin (1.5%, 50μl) into the right vibrissa pad, and the durations of face rubbing were recorded at 3-min blocks for 45min. Morris water maze (MWM) was used for evaluation of learning and memory. Finally, locomotor activity was assessed using an open-field test. Vitamin B 12 attenuated both phases of formalin-induced orofacial pain. Prior administration of naloxone and naloxonazine, but not naltrindole and nor-binaltorphimine, prevented this effect. Vitamin B 12 and physostigmine decreased latency time as well as traveled distance in Morris water maze. In addition, these chemicals improved scopolamine-induced memory impairment. The memory impairment induced by orofacial pain was improved by vitamin B 12 and physostigmine used alone. Naloxone prevented, whereas physostigmine enhanced the memory improving effect of vitamin B 12 in the pain-induced memory impairment. All the above-mentioned chemicals did not alter locomotor activity. The results of the present study showed that at the level of the dorsal hippocampus, vitamin B 12 modulated orofacial pain through a mu-opioid receptor mechanism. In addition, vitamin B 12 contributed to hippocampal cholinergic system in processing of memory. Moreover, cholinergic and opioid systems may be involved in improving effect of vitamin B 12 on pain-induced memory impairment. Copyright © 2016 Elsevier Inc. All rights reserved.

Bright Promise for Your Child with Cleft Lip and Cleft Palate. Revised Edition.

Science.gov (United States)

McDonald, Eugene T.; Berlin, Asa J.

Intended for parents of children with cleft lip and cleft palate, the booklet provides an overview of the condition. Addressed are the following topics (sample subtopics in parentheses): prenatal development and birth defects (facial development); possible causes of cleft lip/cleft palate (common misconceptions, genetic factors, environmental…

Orofacial function and oral health in patients with Parkinson's disease

DEFF Research Database (Denmark)

Bakke, Merete; Larsen, Stine L; Lautrup, Caroline

2011-01-01

No comprehensive study has previously been published on orofacial function in patients with well-defined Parkinson's disease (PD). Therefore, the aim of this study was to perform an overall assessment of orofacial function and oral health in patients, and to compare the findings with matched cont...

Cleft Palate; A Multidiscipline Approach.

Science.gov (United States)

Stark, Richard B., Ed.

Nineteen articles present a multidisciplinary approach to the management of facial clefts. The following subjects are discussed: the history of cleft lip and cleft palate surgery; cogenital defects; classification; the operation of a cleft palate clinic; physical examination of newborns with cleft lip and/or palate; nursing care; anesthesia;…

Speech outcome in unilateral complete cleft lip and palate patients: a descriptive study.

Science.gov (United States)

Rullo, R; Di Maggio, D; Addabbo, F; Rullo, F; Festa, V M; Perillo, L

2014-09-01

In this study, resonance and articulation disorders were examined in a group of patients surgically treated for cleft lip and palate, considering family social background, and children's ability of self monitoring their speech output while speaking. Fifty children (32 males and 18 females) mean age 6.5 ± 1.6 years, affected by non-syndromic complete unilateral cleft of the lip and palate underwent the same surgical protocol. The speech level was evaluated using the Accordi's speech assessment protocol that focuses on intelligibility, nasality, nasal air escape, pharyngeal friction, and glottal stop. Pearson product-moment correlation analysis was used to detect significant associations between analysed parameters. A total of 16% (8 children) of the sample had severe to moderate degree of nasality and nasal air escape, presence of pharyngeal friction and glottal stop, which obviously compromise speech intelligibility. Ten children (10%) showed a barely acceptable phonological outcome: nasality and nasal air escape were mild to moderate, but the intelligibility remained poor. Thirty-two children (64%) had normal speech. Statistical analysis revealed a significant correlation between the severity of nasal resonance and nasal air escape (p ≤ 0.05). No statistical significant correlation was found between the final intelligibility and the patient social background, neither between the final intelligibility nor the age of the patients. The differences in speech outcome could be explained with a specific, subjective, and inborn ability, different for each child, in self-monitoring their speech output.

Genetic determination of human facial morphology: links between cleft-lips and normal variation.

Science.gov (United States)

Boehringer, Stefan; van der Lijn, Fedde; Liu, Fan; Günther, Manuel; Sinigerova, Stella; Nowak, Stefanie; Ludwig, Kerstin U; Herberz, Ruth; Klein, Stefan; Hofman, Albert; Uitterlinden, Andre G; Niessen, Wiro J; Breteler, Monique M B; van der Lugt, Aad; Würtz, Rolf P; Nöthen, Markus M; Horsthemke, Bernhard; Wieczorek, Dagmar; Mangold, Elisabeth; Kayser, Manfred

2011-11-01

Recent genome-wide association studies have identified single nucleotide polymorphisms (SNPs) associated with non-syndromic cleft lip with or without cleft palate (NSCL/P), and other previous studies showed distinctly differing facial distance measurements when comparing unaffected relatives of NSCL/P patients with normal controls. Here, we test the hypothesis that genetic loci involved in NSCL/P also influence normal variation in facial morphology. We tested 11 SNPs from 10 genomic regions previously showing replicated evidence of association with NSCL/P for association with normal variation of nose width and bizygomatic distance in two cohorts from Germany (N=529) and the Netherlands (N=2497). The two most significant associations found were between nose width and SNP rs1258763 near the GREM1 gene in the German cohort (P=6 × 10(-4)), and between bizygomatic distance and SNP rs987525 at 8q24.21 near the CCDC26 gene (P=0.017) in the Dutch sample. A genetic prediction model explained 2% of phenotype variation in nose width in the German and 0.5% of bizygomatic distance variation in the Dutch cohort. Although preliminary, our data provide a first link between genetic loci involved in a pathological facial trait such as NSCL/P and variation of normal facial morphology. Moreover, we present a first approach for understanding the genetic basis of human facial appearance, a highly intriguing trait with implications on clinical practice, clinical genetics, forensic intelligence, social interactions and personal identity.

Influence of lip closure on alveolar cleft width in patients with cleft lip and palate

Directory of Open Access Journals (Sweden)

Schmelzle Rainer

2011-01-01

Full Text Available Abstract Background The influence of surgery on growth and stability after treatment in patients with cleft lip and palate are topics still under discussion. The aim of the present study was to investigate the influence of early lip closure on the width of the alveolar cleft using dental casts. Methods A total of 44 clefts were investigated using plaster casts, 30 unilateral and 7 bilateral clefts. All infants received a passive molding plate a few days after birth. The age at the time of closure of the lip was 2.1 month in average (range 1-6 months. Plaster casts were obtained at the following stages: shortly after birth, prior to lip closure, prior to soft palate closure. We determined the width of the alveolar cleft before lip closure and prior to soft palate closure measuring the alveolar cleft width from the most lateral point of the premaxilla/anterior segment to the most medial point of the smaller segment. Results After lip closure 15 clefts presented with a width of 0 mm, meaning that the mucosa of the segments was almost touching one another. 19 clefts showed a width of up to 2 mm and 10 clefts were still over 2 mm wide. This means a reduction of 0% in 5 clefts, of 1-50% in 6 clefts, of 51-99% in 19 clefts, and of 100% in 14 clefts. Conclusions Early lip closure reduces alveolar cleft width. In most cases our aim of a remaining cleft width of 2 mm or less can be achieved. These are promising conditions for primary alveolar bone grafting to restore the dental bony arch.

Effect of pilocarpine on the formalin-induced orofacial pain in rats

Directory of Open Access Journals (Sweden)

Esmaeal Tamaddonfard

2012-06-01

Full Text Available In this study, the effects of subcutaneous (SC injection of pilocarpine (a cholinomimetic agent and atropine (a muscarinic receptors antagonist were investigated on a tonic model of orofacial pain in rats. The contribution of the endogenous analgesic opioid system was assessed using naloxone (an opioid receptors antagonist. Tonic orofacial pain was induced by SC injection of a diluted formalin solution (1%, 50 μL in the right upper lip, and the time spent face rubbing was measured in five min blocks for 1 h. Formalin induced a biphasic (first phase: 0-5 min and second phase: 15-35 min pain response. Pilocarpine significantly (P < 0.05 suppressed both phases of orofacial pain. Atropine did not have any effect and naloxone non-significantly increased the intensity of pain when used alone. In the pre-injection examinations, atropine prevented, but naloxone did not reverse the antinociceptive effect of pilocarpine. The results indicated that SC injection of formalin in the orofacial region induced a marked biphasic pain. Pilocarpine via muscarinic cholinergic receptors produced antinociceptive effect in the orofacial formalin-induced pain. The endogenous opioid analgesic system may not have a role in pilocarpine-induced antinociception.

Teaching a Comprehensive Orofacial Pain Course in the Dental Curriculum.

Science.gov (United States)

Gonty, Arthur A.

1990-01-01

Two surveys about the teaching of orofacial pain in the dental curriculum are reported, and the comprehensive course taught at the University of Kentucky is described. The first survey was of 89 Kentucky course alumni. The second was of 57 dental schools concerning the status of their orofacial pain curricula. (MSE)

Body Pain Reporting in Tricare Eligible Beneficiaries with Orofacial Pain

Science.gov (United States)

2015-06-01

provider performed a standard orofacial pain clinical examination. This included at a minimum a cranial nerve exam, shoulder and cervical range of...Attachment 2 Date The author hereby certifies that the use of any copyrighted material in the thesis manuscript entitled: Body pain reporting in...Tricare eligible beneficiaries with orofacial pain

Orofacial pain and headaches associated with exfoliation glaucoma.

Science.gov (United States)

Noma, Noboru; Iwasa, Mayumi; Young, Andrew; Ikeda, Mariko; Hsu, Yung-Chu; Yamamoto, Maasa; Inoue, Kenji; Imamura, Yoshiki

2017-12-01

Exfoliation syndrome is the most common identifiable cause of open-angle glaucoma. The authors report a case of exfoliation glaucoma in a patient who had orofacial pain. A 77-year-old woman was treated at the orofacial pain clinic for left-sided facial pain and headaches of 7 months' duration. Her cataracts and open-angle glaucoma had been diagnosed approximately 3 years earlier. Her main symptoms were orofacial pain, eye redness, inflammation of the eyelids, and eyelid edema. Magnetic resonance imaging showed no evidence of intracranial or extracranial pathology. Hemicrania continua was considered as a possible diagnosis. Indomethacin was prescribed but did not affect her headaches. She then went to an ophthalmologist to rule out secondary headaches. Intraocular pressure was 13 millimeters of mercury in the right eye and 67 mm Hg in the left eye. The ophthalmologist made a diagnosis of exfoliation glaucoma, and the patient underwent surgical treatment for the glaucoma and cataracts. After surgery, she was free of symptoms, and intraocular pressure was 15 mm Hg in the left eye. During differential diagnosis, dentists need to consider intraoral and systemic conditions that can mimic odontogenic or orofacial pain disorders in the patient's medical history and that have a higher incidence associated with the patient's age. Copyright © 2017 American Dental Association. Published by Elsevier Inc. All rights reserved.

Skull thickness in patients with clefts

DEFF Research Database (Denmark)

Arntsen, T; Kjaer, I; Sonnesen, L

2010-01-01

The purpose was to analyze skull thickness in incomplete cleft lip (CL), cleft palate (CP), and combined cleft lip and palate (UCLP).......The purpose was to analyze skull thickness in incomplete cleft lip (CL), cleft palate (CP), and combined cleft lip and palate (UCLP)....

Dimensions of the cleft nasal airway in adults: a comparison with subjects without cleft.

Science.gov (United States)

Hairfield, W M; Warren, D W

1989-01-01

The prevalence of mouthbreathing among individuals with cleft lip and palate is significantly higher than in the normal population. This has been attributed to nasal deformities that tend to reduce nasal airway size. The purpose of the present study was to determine how a heterogeneous adult group with cleft lip and palate differs in terms of nasal airway cross-sectional area from an adult group without cleft during the inspiratory and expiratory phases of breathing. The pressure-flow technique was used to estimate nasal airway size in 15 adults without cleft (15 years or older) and 37 adults with cleft lip, cleft palate, or both. Mean areas and standard deviations for subjects without cleft were 0.63 cm2 +/- 0.17 during inspiration and 0.56 cm2 +/- 0.14 during expiration. This difference is statistically significant (p less than 0.01). Mean areas and standard deviations for all subjects with cleft were 0.37 cm2 +/- 0.18 during inspiration and 0.40 cm2 +/- 0.20 during expiration. This difference is not statistically significant (p greater than 0.15). Twenty-two of the subjects with cleft had nasal areas considered to be impaired (below 0.40 cm2) as compared with only three of the subjects without cleft. A two factor analysis of variance (ANOVA) demonstrated that area changes during respiration are different for subjects with and without cleft (p less than 0.005), and that cleft nasal areas are smaller than noncleft areas for both phases of breathing (p less than 0.001). Inspiratory-expiratory differences between subjects with and without cleft are probably the result of developmental defects, reparative surgery or both.(ABSTRACT TRUNCATED AT 250 WORDS)

The "Double" Tessier 7 Cleft: An Unusual Presentation of a Transverse Facial Cleft.

Science.gov (United States)

Raveendran, Janani A; Chao, Jerry W; Rogers, Gary F; Boyajian, Michael J

2018-07-01

Congenital macrostomia, or Tessier number 7 cleft, is a rare craniofacial anomaly. We present a unique patient with bilateral macrostomia that consisted of a "double" transverse cleft on the left side and a single transverse cleft on the right side. A staged reconstructive approach was used to repair the "double" left-sided clefts. This staged technique produced a satisfactory aesthetic and functional outcome.

Risk Factors of Orofacial Pain: A Population-Based Study in West Java Province, Indonesia.

Science.gov (United States)

Rikmasari, Rasmi; Yubiliana, Gilang; Maulina, Tantry

2017-01-01

The management of orofacial pain in Indonesia has not been well performed, which consequently led to an increase in the orofacial pain occurrences and a decreased quality of life. One of the possible reasons for this particular matter is the lack of evaluation on the risk factors that might induce orofacial pain in some individuals. The objective of the current study was to evaluate the risk factors of orofacial pain on productive age population in West Java province, Indonesia. One thousand and fifty-six participants (522 males; 534 females) were recruited for the study. A questionnaire that consists of demographic questions and questions evaluating several assumed risk factors for orofacial pain was used in a single interview. All data was analyzed by using Chi Square test to test the significance, Odds Ratio (OR), as well as Relative Risk (RR) by using SPSS version 23 (IBM Statistic, USA). The result of the current study revealed that bruxism ( p orofacial pain. It was also found that participants who performed multitude of heavy liftings at work have an increased risk (RR=1.19: 95% CI: 1.04 - 1.35) of having orofacial pain compared to those who do not. Risk factors for the occurrence of orofacial pain on productive age population in Indonesian sample consisted of oral parafunctional habits and non-parafunctional habits, such as heavy lifting. Further study in this particular topic is of importance.

Feeding interventions for growth and development in infants with cleft lip, cleft palate or cleft lip and palate.

Science.gov (United States)

Bessell, Alyson; Hooper, Lee; Shaw, William C; Reilly, Sheena; Reid, Julie; Glenny, Anne-Marie

2011-02-16

Cleft lip and cleft palate are common birth defects, affecting about one baby of every 700 born. Feeding these babies is an immediate concern and there is evidence of delay in growth of children with a cleft as compared to those without clefting. In an effort to combat reduced weight for height, a variety of advice and devices are recommended to aid feeding of babies with clefts. This review aims to assess the effects of these feeding interventions in babies with cleft lip and/or palate on growth, development and parental satisfaction. The following electronic databases were searched: the Cochrane Oral Health Group Trials Register (to 27 October 2010), the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library 2010, Issue 4), MEDLINE via OVID (1950 to 27 October 2010), EMBASE via OVID (1980 to 27 October 2010), PsycINFO via OVID (1950 to 27 October 2010) and CINAHL via EBSCO (1980 to 27 October 2010). Attempts were made to identify both unpublished and ongoing studies. There was no restriction with regard to language of publication. Studies were included if they were randomised controlled trials (RCTs) of feeding interventions for babies born with cleft lip, cleft palate or cleft lip and palate up to the age of 6 months (from term). Studies were assessed for relevance independently and in duplicate. All studies meeting the inclusion criteria were data extracted and assessed for validity independently by each member of the review team. Authors were contacted for clarification or missing information whenever possible. Five RCTs with a total of 292 babies, were included in the review. Comparisons made within the RCTs were squeezable versus rigid feeding bottles (two studies), breastfeeding versus spoon-feeding (one study) and maxillary plate versus no plate (two studies). No statistically significant differences were shown for any of the primary outcomes when comparing bottle types, although squeezable bottles were less likely to require

Knowledge About Chronic Orofacial Pain Among General Dentists of Kermanshah, Iran.

Science.gov (United States)

Rezaei, Fatemeh; Sharifi, Roohollah; Shahrezaee, Hamid R; Mozaffari, Hamid R

2017-01-01

Diagnosis and treatment of chronic orofacial pain are one of the most challenging issues in dentistry. The purpose of this study was to assess the knowledge of general dentists regarding orofacial pain in Kermanshah, Iran. This cross-sectional study was conducted in 2016 including general dentists of Kermanshah city. A researcher-designed questionnaire was administered to collect demographic data as well as measuring knowledge of the dentists in four sections including etiology, clinical presentations, physical examination, and treatment of chronic orofacial pain. The questionnaire had acceptable validity (content validity > 0.9) and reliability (intraclass correlation coefficient= 0.857 for test re-test; Cronbach's alpha= 0.72 for internal consistency). The data were analyzed by the SPSS software (ver. 18.0) using Spearman's correlation coefficient ( P orofacial pain especially in the treatment field. Therefore, it is recommended to implement educational programs to improve their knowledge.

Cleft lip and palate repair

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... this page: //medlineplus.gov/ency/article/002979.htm Cleft lip and palate repair To use the sharing features on this ... Cheiloplasty; Cleft rhinoplasty; Palatoplasty; Tip rhinoplasty Patient Instructions Cleft lip and palate repair - discharge Images Cleft lip repair - series References ...

Cleft sidedness and congenitally missing teeth in patients with cleft lip and palate patients

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Abdolreza Jamilian

2016-05-01

Full Text Available Abstract Background The aim of this study was to investigate the prevalence of cleft sidedness, and the number of congenitally missing teeth in regard to cleft type and gender. Methods The charts, models, radiographs, and intraoral photographs of 201 cleft patients including 131 males with the mean age of 12.3 ± 4 years and 70 females with the mean age of 12.6 ± 3.9 years were used for the study. T test, Chi-square, and binomial tests were used for assessment of the data. Results and conclusions One hundred forty-eight of the subjects suffered from cleft lip and palate followed by 41 subjects who suffered from cleft lip and alveolus. Chi-square test did not show any significant difference between the genders. Binomial test showed that left-sided cleft was more predominant in unilateral cleft lip and palate patients (P < 0.001. This study also showed that the upper lateral incisors were the most commonly missing teeth in the cleft area.

p-Cymene reduces orofacial nociceptive response in mice

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Michele F. Santana

2011-12-01

Full Text Available This study investigated the possible antinociceptive effect of p-cymene in different tests of orofacial nociception. The animals (mice were pretreated (i.p. with p-cymene (25, 50, 100 mg/kg, morphine (5 mg/kg, or vehicle (0.2% Tween 80+saline, and were then subsequently administered, subcutaneously into their upper lip: formalin, capsaicin, and glutamate. The nociceptive behavior response was characterized by the time in s that the mice remained rubbing the orofacial region, for a period of 40 min in the formalin test (first phase, 0-6 min; and second phase, 21-40 min, and for 42 and 15 min in the capsaicin and glutamate tests, respectively. To verify the possible opioid involvement in the antinociceptive effects, naloxone (i.p. was administered into the mice 15 min prior to the pretreatment with p-cymene (100 mg/kg. Finally, whether or not the p-cymene evoked any change in motor performance in the Rota-rod test was evaluated. The results showed that the treatment with p-cymene, at all doses, reduced (p<0.001 the nociceptive behavior in all nociception tests. The antinociceptive effect of p-cymene was antagonized by naloxone (1.5 mg/kg. Additionally, mice treated with p-cymene did not show any change in motor performance. In conclusion, p-cymene attenuated orofacial nociception, suggesting an involvement of the opioid system in this effect. Thus, p-cymene might represent an important biomolecule for management and/or treatment of orofacial pain.

Short mandible - a possible risk factor for cleft palate with/without a cleft lip

DEFF Research Database (Denmark)

Hermann, Nuno Vibe; Darvann, Tron Andre; Ersbøll, Bjarne Kjær

2014-01-01

Structured Abstract Objectives To estimate the influence of a short mandible on the risk of developing a cleft palate with/without a cleft lip (CP). Setting and sample population The retrospective sample consisted of 115 2-month-old Danish infants with CP, and 70 control infants with unilateral...... the risk of having a cleft palate. Results The mean mandibular length in the group with CP was about 4mm shorter than in the control group. Odds ratio (OR) was calculated to be 0.58 (95% confidence interval 0.48-0.68), implying that an individual's risk of cleft palate with/without a cleft lip increases...... about 50% per mm decrease in mandibular length. Conclusions A special facial type including a short mandible is a possible risk factor for cleft palate, and it was found that the risk of cleft palate increases 58% per mm decreases in mandibular length....

Cleft Lip and Cleft Palate Surgery: Malpractice Litigation Outcomes.

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Justin, Grant A; Brietzke, Scott E

2017-01-01

  This study examined malpractice claims related to cleft lip and cleft palate surgery to identify common allegations and injuries and reviewed financial outcomes.   The WestlawNext legal database was analyzed for all malpractice lawsuits and settlements related to the surgical repair of cleft lip and palate.   Inclusion criteria included patients undergoing surgical repair of a primary cleft lip or palate or revision for complications of previous surgery. Data evaluated included patient demographics, type of operation performed, plaintiff allegation, nature of injury, and litigation outcomes.   A total of 36 cases were identified, with 12 unique cases from 1981 to 2006 meeting the inclusion criteria. Six cases (50%) were decided by a jury and six by settlement. Five cases involved complications related to the specific surgery, and the other seven were associated with any surgery and perioperative care of children and adults. Cleft palate repair (50%) was the most frequently litigated surgery. Postoperative negligent supervision was the most common allegation (42%) and resulted in a payout in each case (mean = $3,126,032). Death (42%) and brain injury (25%) were the most frequent injuries reported. Financial awards were made in nine cases (after adjusting for inflation, mean = $2,470,552, range = $0 to $7,704,585). The awards were significantly larger for brain injury than other outcomes ($4,675,395 versus $1,368,131 after adjusting for inflation, P = .0101).   Malpractice litigation regarding cleft lip and palate surgery is uncommon. However, significant financial awards involving perioperative brain injury have been reported.

A study on the dental anomalities and site of cleft associated with cleft lip and/or palate

International Nuclear Information System (INIS)

Kim, Eun Kyung; Ahn, Hyung Kyu

1985-01-01

The purpose of this study is to investigate possible correlation between the dental anomalies and site of cleft in cleft lip and palate. In this study, 142 patients who had cleft lip and/or cleft palate were examined. The results are as follows. 1. The incidence of missing tooth was high in the permanent dentition as compared to the incidence in the deciduous dentition. 2. There was not much difference of incidence of supernumerary tooth between deciduous and permanent dentition in the group of patients who had cleft lip and jaw with or without cleft palate. 3. In the group of patients who had cleft lip and jaw with or without cleft palate, the frequency of incidence of cleft sides was higher in unilateral than bilateral cases. And, incidence of left sides was higher than right sides. 4. The type of cleft between central incisor and canine with missing lateral incisor was most frequent in permanent dentition and the type of cleft between central and lateral incisor was most frequent in deciduous dentition. 5. The type of cleft associated with tooth position in deciduous dentition was not almost the same in the succeeding permanent dentition.

A study on the dental anomalities and site of cleft associated with cleft lip and/or palate

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Kim, Eun Kyung; Ahn, Hyung Kyu [Department of Oral Radiology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of)

1985-11-15

The purpose of this study is to investigate possible correlation between the dental anomalies and site of cleft in cleft lip and palate. In this study, 142 patients who had cleft lip and/or cleft palate were examined. The results are as follows. 1. The incidence of missing tooth was high in the permanent dentition as compared to the incidence in the deciduous dentition. 2. There was not much difference of incidence of supernumerary tooth between deciduous and permanent dentition in the group of patients who had cleft lip and jaw with or without cleft palate. 3. In the group of patients who had cleft lip and jaw with or without cleft palate, the frequency of incidence of cleft sides was higher in unilateral than bilateral cases. And, incidence of left sides was higher than right sides. 4. The type of cleft between central incisor and canine with missing lateral incisor was most frequent in permanent dentition and the type of cleft between central and lateral incisor was most frequent in deciduous dentition. 5. The type of cleft associated with tooth position in deciduous dentition was not almost the same in the succeeding permanent dentition.

Oral infections and orofacial pain in Alzheimer's disease: a case-control study.

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de Souza Rolim, Thaís; Fabri, Gisele Maria Campos; Nitrini, Ricardo; Anghinah, Renato; Teixeira, Manoel Jacobsen; de Siqueira, José Tadeu T; Cestari, José Augusto Ferrari; de Siqueira, Silvia Regina Dowgan T

2014-01-01

Dental infections are frequent and have recently been implicated as a possible risk factor for Alzheimer's disease (AD). Despite a lack of studies investigating orofacial pain in this patient group, dental conditions are known to be a potential cause of pain and to affect quality of life and disease progression. To evaluate oral status, mandibular function and orofacial pain in patients with mild AD versus healthy subjects matched for age and gender. Twenty-nine patients and 30 control subjects were evaluated. The protocol comprised a clinical questionnaire and dental exam, research diagnostic criteria for temporomandibular disorders, the McGill Pain Questionnaire, the decayed, missing, and filled teeth index, and included a full periodontal evaluation. AD signs and symptoms as well as associated factors were evaluated by a trained neurologist. A higher prevalence of orofacial pain (20.7%, p Orofacial pain and periodontal infections were more frequent in patients with mild AD than in healthy subjects. Orofacial pain screening and dental and oral exams should be routinely performed in AD patients in order to identify pathological conditions that need treatment thus improving quality of life compromised due to dementia.

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Home; Journals; Journal of Genetics. YONGQING HUANG. Articles written in Journal of Genetics. Volume 96 Issue 4 September 2017 pp 687-693 RESEARCH NOTE. The association study of nonsyndromic cleft lip with or without cleft palate identified risk variants of the GLI3 gene in a Chinese population · YIRUI WANG ...

Orofacial pain and quality of life in early adolescents in India.

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Kumar, Sandeep; Badiyani, Bhumika K; Kumar, Amit; Dixit, Garima; Sharma, Prachi; Agrawal, Sugandha

2016-08-18

Orofacial pain may have an impact on quality of life. It may affect the overall well-being of an individual. To assess the prevalence of orofacial pain and its impact on quality of life in early adolescents in Indore city, India. This was a cross-sectional study which included a total of 800 children selected from various public and private schools located in Indore city, India. A questionnaire was developed which collected information on sociodemographic characteristics and previous dental visits. The severity of pain was assessed using Von Korff pain scale and quality of life using the General Health Questionnaire 12 (GHQ-12). The chi-square test and logistic regression analysis were performed. The overall prevalence of orofacial pain was found to be 17.9%. Toothache (10.1%) was found to be the most prevalent orofacial pain followed by temporomandibular joint pain (4.3%). The highest severity of pain (Grades 3 and 4) was reported for toothache followed by temporomandibular joint pain. The results of the logistic regression model showed that the prevalence of orofacial pain (odds ratio=7.18, p-valueorofacial pain has a negative influence on the quality of life of adolescents. Effective policies should be created to improve the quality of life of adolescents focusing on oral health education and prevention of oral diseases.

Classifying orofacial pains: a new proposal of taxonomy based on ontology

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NIXDORF, D. R.; DRANGSHOLT, M. T.; ETTLIN, D. A.; GAUL, C.; DE LEEUW, R.; SVENSSON, P.; ZAKRZEWSKA, J. M.; DE LAAT, A.; CEUSTERS, W.

2012-01-01

SUMMARY Propose a new taxonomy model based on ontological principles for disorders that manifest themselves through the symptom of persistent orofacial pain and are commonly seen in clinical practice and difficult to manage. Consensus meeting of eight experts from various geographic areas representing different perspectives (orofacial pain, headache, oral medicine and ontology) as an initial step towards improving the taxonomy. Ontological principles were introduced, reviewed and applied during the consensus building process. Diagnostic criteria for persistent dento-alveolar pain disorder (PDAP) were formulated as an example to be used to model the taxonomical structure of all orofacial pain conditions. These criteria have the advantage of being (i) anatomically defined, (ii) in accordance with other classification systems for the provision of clinical care, (iii) descriptive and succinct, (iv) easy to adapt for applications in varying settings, (v) scalable and (vi) transferable for the description of pain disorders in other orofacial regions of interest. Limitations are that the criteria introduce new terminology, do not have widespread acceptance and have yet to be tested. These results were presented to the greater conference membership and were unanimously accepted. Consensus for the diagnostic criteria of PDAP was established within this working group. This is an initial first step towards developing a coherent taxonomy for orofacial pain disorders, which is needed to improve clinical research and care. PMID:21848527

Classifying orofacial pains: a new proposal of taxonomy based on ontology.

Science.gov (United States)

Nixdorf, D R; Drangsholt, M T; Ettlin, D A; Gaul, C; De Leeuw, R; Svensson, P; Zakrzewska, J M; De Laat, A; Ceusters, W

2012-03-01

We propose a new taxonomy model based on ontological principles for disorders that manifest themselves through the symptom of persistent orofacial pain and are commonly seen in clinical practice and difficult to manage. Consensus meeting of eight experts from various geographic areas representing different perspectives (orofacial pain, headache, oral medicine and ontology) as an initial step towards improving the taxonomy. Ontological principles were introduced, reviewed and applied during the consensus building process. Diagnostic criteria for persistent dento-alveolar pain disorder (PDAP) were formulated as an example to be used to model the taxonomical structure of all orofacial pain conditions. These criteria have the advantage of being (i) anatomically defined, (ii) in accordance with other classification systems for the provision of clinical care, (iii) descriptive and succinct, (iv) easy to adapt for applications in varying settings, (v) scalable and (vi) transferable for the description of pain disorders in other orofacial regions of interest. Limitations are that the criteria introduce new terminology, do not have widespread acceptance and have yet to be tested. These results were presented to the greater conference membership and were unanimously accepted. Consensus for the diagnostic criteria of PDAP was established within this working group. This is an initial first step towards developing a coherent taxonomy for orofacial pain disorders, which is needed to improve clinical research and care. © 2011 Blackwell Publishing Ltd.

The study of role of stress in children with behavior disorders and orofacial lesions.

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Baad, R K; Jagtap, Kiran

2012-07-01

(1) To study the behavior disorders in children between 5 to 15 years. (2) To study the role of stress in causing behavior disorders. (3) To interpret the orofacial findings in children with behavior disorders. (4) Correlate the orofacial findings with behavior disorder. Ninty children with behavior problems between age of 5 to 15 years along with their parents who visited the Department of Child-Guidance Clinic, BYL Nair Charitable Hospital, Mumbai. Intraoral examinations were conducted. Behavioral disorders and factors predisposing to those disorders were recorded. Behavior disorders with orofacial lesions was more common in age group of 8 to 10 years. The children were continuously under stress, which manifested in the form of various orofacial disorders or oral lesions. Most common orofacial condition was bruxism. Awareness of behavior disorders in dental treatment should guide the pediatric dentist to seek child psychiatric consultation for behavioral disorders to enable early evaluation of the underlying disorder. The present study suggested that orofacial and behavior characteristics can serve as markers to diagnose children with behavioral disorders. It also serves as a guide to dental clinicians to refer such children to psychiatrists or pediatricians for early identification, prevention and treatment.

Comparison of orofacial pain of patients with different stages of precancer and oral cancer.

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Yang, Yanjie; Zhang, Peipei; Li, Wenlu

2017-03-16

Orofacial pain impairs a patient's speech, swallowing, eating and interpersonal relations. Thirty-seven patients with a premalignant oral lesion, 124 patients with oral squamous cell carcinoma (OSSC), and 21 patients with a recurrence of OSSC were evaluated for their orofacial pain. The University of California San Francisco Oral Cancer Pain Questionnaire was administered to these patients at their initial visit, before they were prescribed analgesics for pain and before any treatment. Significant differences with respect to orofacial pain between the groups could be evaluatedwere observed. Patients with recurrence had the highest facial pain and patients with precancer had the lowest. Patients with OSSC and recurrence of OSSC reported significant levels of orofacial pain and functional restriction because of pain. Moreover, patients with recurrence of OSSC experienced significantly higher function-related pain, rather than pain qualities. These findings suggest that an important predictor for recurrence of OSSC may be the onset of orofacial pain that is exacerbated during function. The present study examined orofacial pain depending on the disease severity of precancer and oral cancer patients. Earlier recognition of symptoms of OSSC may improve early detection of its recurrence.

Speech therapy in peripheral facial palsy: an orofacial myofunctional approach

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Hipólito Virgílio Magalhães Júnior

2009-12-01

Full Text Available Objective: To delineate the contributions of speech therapy in the rehabilitation of peripheral facial palsy, describing the role of orofacial myofunctional approach in this process. Methods: A literature review of published articles since 1995, held from March to December 2008, based on the characterization of peripheral facial palsy and its relation with speechlanguage disorders related to orofacial disorders in mobility, speech and chewing, among others. The review prioritized scientific journal articles and specific chapters from the studied period. As inclusion criteria, the literature should contain data on peripheral facial palsy, quotes on the changes in the stomatognathic system and on orofacial miofunctional approach. We excluded studies that addressed central paralysis, congenital palsy and those of non idiopathic causes. Results: The literature has addressed the contribution of speech therapy in the rehabilitation of facial symmetry, with improvement in the retention of liquids and soft foods during chewing and swallowing. The orofacial myofunctional approach contextualized the role of speech therapy in the improvement of the coordination of speech articulation and in the gain of oral control during chewing and swallowing Conclusion: Speech therapy in peripheral facial palsy contributed and was outlined by applying the orofacial myofunctional approach in the reestablishment of facial symmetry, from the work directed to the functions of the stomatognathic system, including oralfacial exercises and training of chewing in association with the training of the joint. There is a need for a greater number of publications in this specific area for speech therapy professional.

Orofacial Sports – Related Injuries In A Sports Festival In Nigeria ...

African Journals Online (AJOL)

Objective: To determine the aetiology, prevalence and types of oro-facial injuries in a sports festival in Nigeria Materials and Methods: A data form was designed to collect among others, information on age, gender, state of origin, sporting event and types of injury. All consecutive patients who sustained oro-facial sports- ...

Branchial cleft anomalies: CT evaluation

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Seok, Eul Hye; Park, Chan Sup [College of Medicine, Inha University, Seongnam (Korea, Republic of)

1994-04-15

The purpose of this paper is to describe the CT findings of a variety of branchial cleft anomalies in the head and neck area. We reviewed the CT findings of 16 patients with neck lesion pathologically proved as branchial cleft anomalies. There were two first and 12 second branchial cleft cysts, one first and one second branchial cleft sinuses. Two cases of first branchial cleft cysts were manifested as thin-walled, cystic masses at auricular area. One first branchial cleft sinus was an external opening type and manifested as an ill-defined, enhancing solid lesion at posterior auricular area. All 12 cases of second branchial cleft cysts demonstrated a typical location, displacing the sternocleidomastoid muscle posteriorly, the carotid artery and internal jugular vein complex medially and the submandibular gland anteriorly. Eight cases of second branchial cleft cysts were seen as fluid-filled, round or ovoid-shaped cysts, and 3 cases of them were seen as irregular-shaped cysts. In one case, suppurative adenopathy with loss of soft tissue planes around the cyst was observed. One case of second branchial cleft sinus was manifested as a tubular-shaped, enhancing lesion at submental area and containing external opening site draining into the anterior border of the sternocleidomastoid muscle. We conclude that CT provides important diagnostic and therapeutic information in patients with a neck mass believed to be a branchial cleft anomaly, as it can differentiate various forms of the branchial anomalies by their characteristic location and shape.

Branchial cleft anomalies: CT evaluation

International Nuclear Information System (INIS)

Seok, Eul Hye; Park, Chan Sup

1994-01-01

The purpose of this paper is to describe the CT findings of a variety of branchial cleft anomalies in the head and neck area. We reviewed the CT findings of 16 patients with neck lesion pathologically proved as branchial cleft anomalies. There were two first and 12 second branchial cleft cysts, one first and one second branchial cleft sinuses. Two cases of first branchial cleft cysts were manifested as thin-walled, cystic masses at auricular area. One first branchial cleft sinus was an external opening type and manifested as an ill-defined, enhancing solid lesion at posterior auricular area. All 12 cases of second branchial cleft cysts demonstrated a typical location, displacing the sternocleidomastoid muscle posteriorly, the carotid artery and internal jugular vein complex medially and the submandibular gland anteriorly. Eight cases of second branchial cleft cysts were seen as fluid-filled, round or ovoid-shaped cysts, and 3 cases of them were seen as irregular-shaped cysts. In one case, suppurative adenopathy with loss of soft tissue planes around the cyst was observed. One case of second branchial cleft sinus was manifested as a tubular-shaped, enhancing lesion at submental area and containing external opening site draining into the anterior border of the sternocleidomastoid muscle. We conclude that CT provides important diagnostic and therapeutic information in patients with a neck mass believed to be a branchial cleft anomaly, as it can differentiate various forms of the branchial anomalies by their characteristic location and shape

Cleft Lip and Cleft Palate--What to Know and Who Can Help

Science.gov (United States)

Apel, Laura

2008-01-01

Craniofacial defects such as cleft lip and cleft palate are among the most common of all birth defects in the United States, with one in every 600 newborns affected. Cleft lip and/or palate can occur as an isolated condition or may be one component of an inherited disease or syndrome. Dealing with the condition is an extremely difficult and…

The role of trigeminal nucleus caudalis orexin 1 receptors in orofacial pain transmission and in orofacial pain-induced learning and memory impairment in rats.

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Kooshki, Razieh; Abbasnejad, Mehdi; Esmaeili-Mahani, Saeed; Raoof, Maryam

2016-04-01

It is widely accepted that the spinal trigeminal nuclear complex, especially the subnucleus caudalis (Vc), receives input from orofacial structures. The neuropeptides orexin-A and -B are expressed in multiple neuronal systems. Orexin signaling has been implicated in pain-modulating system as well as learning and memory processes. Orexin 1 receptor (OX1R) has been reported in trigeminal nucleus caudalis. However, its roles in trigeminal pain modulation have not been elucidated so far. This study was designed to investigate the role of Vc OX1R in the modulation of orofacial pain as well as pain-induced learning and memory deficits. Orofacial pain was induced by subcutaneous injection of capsaicin in the right upper lip of the rats. OX1R agonist (orexin-A) and antagonist (SB-334867-A) were microinjected into Vc prior capsaicin administration. After recording nociceptive times, learning and memory was investigated using Morris water maze (MWM) test. The results indicated that, orexin-A (150 pM/rat) significantly reduced the nociceptive times, while SB334867-A (80 nM/rat) exaggerated nociceptive behavior in response to capsaicin injection. In MWM test, capsaicin-treated rats showed a significant learning and memory impairment. Moreover, SB-334867-A (80 nM/rat) significantly exaggerated learning and memory impairment in capsaicin-treated rats. However, administration of orexin-A (100 pM/rat) prevented learning and memory deficits. Taken together, these results indicate that Vc OX1R was at least in part involved in orofacial pain transmission and orexin-A has also a beneficial inhibitory effect on orofacial pain-induced deficits in abilities of spatial learning and memory. Copyright © 2016 Elsevier Inc. All rights reserved.

Diagnostic role of magnetic resonance imaging in assessing orofacial pain and paresthesia.

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Ohba, Seigo; Yoshimura, Hitoshi; Matsuda, Shinpei; Kobayashi, Junichi; Kimura, Takashi; Aiki, Minako; Sano, Kazuo

2014-09-01

The aim of this study was to compare the efficacy of CT and MRI in evaluating orofacial pain and paresthesia. A total of 96 patients with orofacial pain and/or paresthesia were included in this study. The patients who underwent CT and/or MRI examinations were assessed, and the efficacy of CT and/or MRI examinations in detecting the causative disease of the orofacial pain and paresthesia was evaluated. Seventy (72.9%) of 96 patients underwent CT and/or MRI examinations. Whereas CT examinations detected 2 diseases (4.5%) in 44 tests, 13 diseases (37.1%) were detected in 35 MRI examinations. Seven (53.8%) of 13 diseases, which were detected by MRI, were found in elderly patients. A high percentage of patients, who claimed orofacial pain and paresthesia, have other diseases in their brain, especially in elderly patients, and MRI is more useful than CT for evaluating these patients.

aihua yin

Indian Academy of Sciences (India)

Home; Journals; Journal of Genetics. AIHUA YIN. Articles written in Journal of Genetics. Volume 96 Issue 4 September 2017 pp 687-693 RESEARCH NOTE. The association study of nonsyndromic cleft lip with or without cleft palate identified risk variants of the GLI3 gene in a Chinese population · YIRUI WANG YIMIN SUN ...

yimin sun

Indian Academy of Sciences (India)

Home; Journals; Journal of Genetics. YIMIN SUN. Articles written in Journal of Genetics. Volume 96 Issue 4 September 2017 pp 687-693 RESEARCH NOTE. The association study of nonsyndromic cleft lip with or without cleft palate identified risk variants of the GLI3 gene in a Chinese population · YIRUI WANG YIMIN SUN ...

Burden of orofacial pain in a socially deprived and culturally diverse area of the United Kingdom.

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Joury, Easter; Bernabe, Eduardo; Gallagher, Jennifer E; Marcenes, Wagner

2018-07-01

Little is known about the burden and impact of orofacial pain in deprived areas, and whether it mediates the relationship between socioeconomic position and impacts on daily life. We analysed data from a representative sample of 2168 adults, aged 16 to 65 years, from the East London Oral Health Inequality study. Participants completed a validated questionnaire on demographics, socioeconomic position (area deprivation), orofacial pain (by anatomical site) in the past month, and impacts related to oral conditions on daily life. Negative binomial regression models with robust variance estimator were fitted. The prevalence of orofacial pain was high (30.2%). The most common subset of orofacial pain was intraoral pain (27.5%). The prevalence of pain related to temporomandibular disorders was 6.8%. The most common subsets of intraoral pain were tooth (20.4%) and gingival (11.4%) pain. Orofacial pain, its subsets (intraoral and temporomandibular disorder-related pain), and intraoral pain subsets (tooth and gingival pain) consistently showed associations with all dimensions of impacts on daily life that were highly statistically significant: functional limitation, psychological discomfort, disabilities, and handicap. Socioeconomic inequalities were present in orofacial pain and some dimensions of impacts on daily life. Orofacial pain did not mediate the relationship between area deprivation and impacts on daily life. Our study demonstrated a substantial burden and impact of orofacial pain in a socially deprived and culturally diverse area of the United Kingdom. To address this burden, interventions that lie within the remit of health services are needed to improve access to dental care for adults with orofacial pain.

Therapeutic potential of stellate ganglion block in orofacial pain: a mini review.

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Jeon, Younghoon

2016-09-01

Orofacial pain is a common complaint of patients that causes distress and compromises the quality of life. It has many etiologies including trauma, interventional procedures, nerve injury, varicella-zoster (shingles), tumor, and vascular and idiopathic factors. It has been demonstrated that the sympathetic nervous system is usually involved in various orofacial pain disorders such as postherpetic neuralgia, complex regional pain syndromes, and atypical facial pain. The stellate sympathetic ganglion innervates the head, neck, and upper extremity. In this review article, the effect of stellate ganglion block and its mechanism of action in orofacial pain disorders are discussed.

Non-syndromic supernumerary teeth: report of a case with 6 supernumerary teeth

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Taghibakhsh M

2011-02-01

Full Text Available "nBackground and Aims: Multiple supernumerary teeth are rare and often found in association with syndromes such as Gardner, Cleidocranial dysplasia and cleft lip and palate, with a much less chance for isolated"nnon-syndromic cases. The aim of this study was to report a case with 6 supernumerary teeth without syndromic association."nCase Report: The patient was a 33 year-old female, referred to oral diseases and diagnosis department with chief complaint of sensitivity to cold and hot food in right upper premolar region. Oral examination revealed 5 erupted lingually supernumerary teeth (four in mandibular and one in maxillary premolar region, respectively. Further panoramic radiography clarified an extra impacted tooth in the palatal region of left premolar maxillary area. All extra teeth had been appeared since the age of 17 during one year, as the patient claimed. Medical history and thorough clinical and paraclinical examinations were not significant except for the hypothyroidism, since 5 years ago. No other family member noticed to be the case. Based on our findings, a diagnosis of non-syndromic multiple supernumerary teeth was established."nConclusion: A thorough examination of each patient presented with supernumerary teeth, including panoramic and intraoral radiographic images may provide valuable information regarding accompanying syndromes and unerupted teeth. Early diagnosis is an essential step for orthodontic or surgical decisions making, preventing or avoiding worsening complications such as malocclusion, adjacent normal teeth delayed eruption or rotation, diasthema, cystic lesions and resorption of contiguous teeth.

Fetal cleft lip with and without cleft palate: Comparison between MR imaging and US for prenatal diagnosis

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Wang Guangbin, E-mail: wgb7932596@hotmail.com [Shandong Medical Imaging Research Institute, 324 Jingwu Road, Jinan, 250021 (China); Shan Ruiqin [Jinan Maternity and Child Care Hospital, Jinan (China); Zhao Lianxin; Zhu Xiangyu; Zhang Xinjuan [Shandong Medical Imaging Research Institute, 324 Jingwu Road, Jinan, 250021 (China)

2011-09-15

Objective: To describe the magnetic resonance (MR) imaging findings of fetal CL/CP and evaluate its diagnostic value. Methods and materials: Twelve fetuses with CL/CP diagnosed by transabdominal US underwent MR imaging within 2 days of US. Half-Fourier acquisition single-shot turbo spin echo (HASTE) sequence on T2-weighted images was performed on sagittal, coronal, and axial planes anatomic to the fetuses during maternal breath holding. US and MR imaging findings were compared with final diagnoses obtained from post-natal physical examination or fetal autopsy. Results: Final diagnoses confirmed incomplete midline cleft lip (n = 1), unilateral cleft lip and palate (n = 7), bilateral cleft lip and palate (n = 1), midline cleft lip and palate (n = 3). US and MR imaging diagnosed all 12 fetuses with cleft lip and the laterality. 5 (45.5%) of 11 cleft palates were identified with US, 2 of 7 fetuses with unilateral cleft palate, 2 of 3 fetuses with midline cleft palate, and one fetus with bilateral cleft palate. On MR imaging, 10 (91%) of 11 cleft palates were correctly detected. One fetus with unilateral cleft palate was not detected. No false-positives occurred. Conclusion: MR imaging is valuable for diagnosis of fetal CL/CP. It can demonstrate additional findings and provide more information compared with US.

Fetal cleft lip with and without cleft palate: Comparison between MR imaging and US for prenatal diagnosis

International Nuclear Information System (INIS)

Wang Guangbin; Shan Ruiqin; Zhao Lianxin; Zhu Xiangyu; Zhang Xinjuan

2011-01-01

Objective: To describe the magnetic resonance (MR) imaging findings of fetal CL/CP and evaluate its diagnostic value. Methods and materials: Twelve fetuses with CL/CP diagnosed by transabdominal US underwent MR imaging within 2 days of US. Half-Fourier acquisition single-shot turbo spin echo (HASTE) sequence on T2-weighted images was performed on sagittal, coronal, and axial planes anatomic to the fetuses during maternal breath holding. US and MR imaging findings were compared with final diagnoses obtained from post-natal physical examination or fetal autopsy. Results: Final diagnoses confirmed incomplete midline cleft lip (n = 1), unilateral cleft lip and palate (n = 7), bilateral cleft lip and palate (n = 1), midline cleft lip and palate (n = 3). US and MR imaging diagnosed all 12 fetuses with cleft lip and the laterality. 5 (45.5%) of 11 cleft palates were identified with US, 2 of 7 fetuses with unilateral cleft palate, 2 of 3 fetuses with midline cleft palate, and one fetus with bilateral cleft palate. On MR imaging, 10 (91%) of 11 cleft palates were correctly detected. One fetus with unilateral cleft palate was not detected. No false-positives occurred. Conclusion: MR imaging is valuable for diagnosis of fetal CL/CP. It can demonstrate additional findings and provide more information compared with US.

Orofacial Pain during Mastication in People with Dementia: Reliability Testing of the Orofacial Pain Scale for Non-Verbal Individuals.

Science.gov (United States)

de Vries, Merlijn W; Visscher, Corine; Delwel, Suzanne; van der Steen, Jenny T; Pieper, Marjoleine J C; Scherder, Erik J A; Achterberg, Wilco P; Lobbezoo, Frank

2016-01-01

Objectives. The aim of this study was to establish the reliability of the "chewing" subscale of the OPS-NVI, a novel tool designed to estimate presence and severity of orofacial pain in nonverbal patients. Methods. The OPS-NVI consists of 16 items for observed behavior, classified into four categories and a subjective estimate of pain. Two observers used the OPS-NVI for 237 video clips of people with dementia in Dutch nursing homes during their meal to observe their behavior and to estimate the intensity of orofacial pain. Six weeks later, the same observers rated the video clips a second time. Results. Bottom and ceiling effects for some items were found. This resulted in exclusion of these items from the statistical analyses. The categories which included the remaining items (n = 6) showed reliability varying between fair-to-good and excellent (interobserver reliability, ICC: 0.40-0.47; intraobserver reliability, ICC: 0.40-0.92). Conclusions. The "chewing" subscale of the OPS-NVI showed a fair-to-good to excellent interobserver and intraobserver reliability in this dementia population. This study contributes to the validation process of the OPS-NVI as a whole and stresses the need for further assessment of the reliability of the OPS-NVI with subjects that might already show signs of orofacial pain.

Schizencephaly/congenital cerebral clefts

International Nuclear Information System (INIS)

Friedman, H.; Naidich, T.P.

1987-01-01

Schizencephaly (from the Greek meaning ''split brain''), is a term developed in the 1940s to explain symmetric clefts in the brain seen at autopsy in children with histories of severe neurologic defects. Use of the term has been expanded to include a variety of cerebral clefts. A review of the experience at Children's Memorial Hospital as well as case materials made available to the authors are presented, including CT, MR imaging, and US findings. Theories of etiology and pathogenesis of these congenital clefts, associated anomalies, and the spectrum of appearance of these clefts are discussed

Cleft Palate Foundation

Science.gov (United States)

... craniofacial journeys. Read the press release here. American Cleft Palate-Craniofacial Association 1504 East Franklin Street, Suite 102 ... order bottles Order ACPA publications © Copyright 2017 American Cleft Palate-Craniofacial Association. Website by Mixer Creative Follow us ...

Trigeminal nerve anatomy in neuropathic and non-neuropathic orofacial pain patients.

Science.gov (United States)

Wilcox, Sophie L; Gustin, Sylvia M; Eykman, Elizabeth N; Fowler, Gordon; Peck, Christopher C; Murray, Greg M; Henderson, Luke A

2013-08-01

Trigeminal neuralgia, painful trigeminal neuropathy, and painful temporomandibular disorders (TMDs) are chronic orofacial pain conditions that are thought to have fundamentally different etiologies. Trigeminal neuralgia and neuropathy are thought to arise from damage to or pressure on the trigeminal nerve, whereas TMD results primarily from peripheral nociceptor activation. This study sought to assess the volume and microstructure of the trigeminal nerve in these 3 conditions. In 9 neuralgia, 18 neuropathy, 20 TMD, and 26 healthy controls, the trigeminal root entry zone was selected on high-resolution T1-weighted magnetic resonance images and the volume (mm(3)) calculated. Additionally, using diffusion-tensor images (DTIs), the mean diffusivity and fractional anisotropy values of the trigeminal nerve root were calculated. Trigeminal neuralgia patients displayed a significant (47%) decrease in nerve volume but no change in DTI values. Conversely, trigeminal neuropathy subjects displayed a significant (40%) increase in nerve volume but again no change in DTI values. In contrast, TMD subjects displayed no change in volume or DTI values. The data suggest that the changes occurring within the trigeminal nerve are not uniform in all orofacial pain conditions. These structural and volume changes may have implications in diagnosis and management of different forms of chronic orofacial pain. This study reveals that neuropathic orofacial pain conditions are associated with changes in trigeminal nerve volume, whereas non-neuropathic orofacial pain is not associated with any change in nerve volume. Crown Copyright © 2013. Published by Elsevier Inc. All rights reserved.

Orofacial complex regional pain syndrome: pathophysiologic mechanisms and functional MRI.

Science.gov (United States)

Lee, Yeon-Hee; Lee, Kyung Mi; Kim, Hyug-Gi; Kang, Soo-Kyung; Auh, Q-Schick; Hong, Jyung-Pyo; Chun, Yang-Hyun

2017-08-01

Complex regional pain syndrome (CRPS) is one of the most challenging chronic pain conditions and is characterized by burning pain, allodynia, hyperalgesia, autonomic changes, trophic changes, edema, and functional loss involving mainly the extremities. Until recently, very few reports have been published concerning CRPS involving the orofacial area. We report on a 50-year-old female patient who presented with unbearable pain in all of her teeth and hypersensitivity of the facial skin. She also reported intractable pain in both extremities accompanied by temperature changes and orofacial pain that increased when the other pains were aggravated. In the case of CRPS with trigeminal neuropathic pain, protocols for proper diagnosis and prompt treatment have yet to be established in academia or in the clinical field. We performed functional magnetic resonance imaging for a thorough analysis of the cortical representation of the affected orofacial area immediately before and immediately after isolated light stimulus of the affected hand and foot and concluded that CRPS can be correlated with trigeminal neuropathy in the orofacial area. Furthermore, the patient was treated with carbamazepine administration and stellate ganglion block, which can result in a rapid improvement of pain in the trigeminal region. Copyright © 2017 Elsevier Inc. All rights reserved.

Maternal Risk Factors Associated with Cleft Lip with or without Cleft Palate: A Review

OpenAIRE

Barrera, Catalina; Mezarobba, Naiara

2016-01-01

Disruptions in the development of the nasal and oral structures lead to cleft palate and cleft lip. There are many different factors that can affect this development such as genetic, mechanical traumas or teratogeny. The oral clefts are one of the most common birth defects worldwide affecting approximately 1 in 700 to 1000 children. The development of oral clefts is multifactorial and affect a significant portion of the population. The study results showed that smoking is the risk factor most...

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Conditional QTL mapping of protein content in wheat with respect to grain yield and its components · Lin Wang Fa Cui Jinping Wang Li Jun ... The association study of nonsyndromic cleft lip with or without cleft palate identified risk variants of the GLI3 gene in a Chinese population · YIRUI WANG YIMIN SUN YONGQING ...

Oral health and orofacial pain in people with dementia admitted to acute hospital wards: observational cohort study.

Science.gov (United States)

van de Rijt, Liza J M; Weijenberg, Roxane A F; Feast, Alexandra R; Vickerstaff, Victoria; Lobbezoo, Frank; Sampson, Elizabeth L

2018-05-23

Orofacial pain in people with dementia is difficult to detect, and often under-treated. Our aim was to investigate the prevalence of orofacial pain in people with dementia in acute hospitals in the UK. Secondary aims were to examine oral health status and explore associations between orofacial pain and oral health factors. This cross-sectional observational study was carried out in two UK hospitals. Using the Orofacial Pain Scale in Non-Verbal Individuals (OPS-NVI) to identify orofacial pain, 101 participants with dementia, admitted to acute medical wards, were observed for at least 3 min during rest and chewing. Verbal participants were then asked about presence of orofacial pain, using self-report pain scales. Finally, a brief oral assessment was performed. Orofacial pain, assessed with the OPS-NVI, was present in 11.9% (95% C.I. 5.9, 18.8) of participants at rest and 21.9% (95% C.I. 14.6, 31.3) whilst chewing. Participants who were no longer able to self-report pain were significantly more likely to experience orofacial pain. Oral health in both dentate and edentate participants was poor. Brush frequency, indication of chewing quality, consistency of the food, presence of extra-oral abnormalities, person who performed mouth care, and oral hygiene in dentate participants were significant predictors for the presence of orofacial pain. Improving oral care in acute hospital patients with dementia, particularly those who cannot self-report pain, may significantly reduce pain and suffering in this population.

Pain-related worry in patients with chronic orofacial pain.

Science.gov (United States)

Davis, C Ervin; Stockstill, John W; Stanley, William D; Wu, Qiang

2014-07-01

Pain-related worry is distinct from, but related to, pain catastrophizing (PC) and anxiety. Worry and its relationship with other variables have been studied in people with chronic pain but not in people with chronic orofacial pain. The authors explored the prevalence of trait, general and pain-related worry and the association of worry with higher pain levels and other variables. The authors assessed people who had a diagnosis of chronic orofacial pain by using nonpain-related trait worry, state anxiety, trait anxiety, PC and pain measures. The participants' answers to an open-ended question about what they were most worried about led to the identification of worry domains, including worry about pain. The authors found that worrying about pain was related significantly to worst and least pain levels, pain interference and pain duration, as well as moderated trait worry in predicting pain interference. Although trait worry was not correlated directly with pain, when moderated by PC, it made substantial contributions in predicting pain interference. Participants with chronic orofacial pain reported experiencing substantial levels of trait worry, anxiety, PC and worry about pain that related to pain ratings directly and indirectly. Clinicians should assess pain-related worry in patients with chronic orofacial pain to understand the effects of worry on pain and functioning. Clinicians could treat these patients more effectively by helping them reduce their levels of pain-related worry and focusing on improved coping.

Oro-facial evaluation of women with rheumatoid arthritis.

Science.gov (United States)

Hoyuela, C P S; Furtado, R N V; Chiari, A; Natour, J

2015-05-01

Rheumatoid arthritis (RA) is an aggressive articular autoimmune disease that causes deformities and disability. The temporomandibular joint (TMJ) might be affected by this disease. Few controlled studies have evaluated bite force (BF) and oro-facial manifestations of this disease. To characterise oro-facial alterations in patients with RA, correlate these results with clinical and disease activity parameters and correlate BF with hand strength (HS). A cross-sectional study of 150 women was performed, (75 RA patients (RA group) and 75 healthy individuals (control group). The presence of articular sounds, pain on palpation of masseter, temporal and TMJ lateral pole, changes in occlusion, range of mandibular motion, measurement of BF in the incisor and molar regions and assessment of HS were evaluated. In relation to oro-facial evaluation there were statistical differences between the groups. There was correlation between BF and HS, in the RA group, this correlation was consistent in patients with natural teeth. Patients with RA had lower scores (P < 0·05) in the HAQ, DASH and OHIP-14 questionnaires than the control group. Inverse correlations were found between BF and HAQ, but not between BF and DAS-28, DASH and OHIP-14 questionnaires in the RA group. The women with RA presented more signs and symptoms in the oro-facial region and had a lower BF than the women in the control group. BF was inversely correlated with the overall function (evaluated by the HAQ) in the patients with RA, and there were correlations between BF and HS in the RA patients and in the control group. © 2014 John Wiley & Sons Ltd.

Preoperative Cleft Lip Measurements and Maxillary Growth in Patients With Unilateral Cleft Lip and Palate.

Science.gov (United States)

Antonarakis, Gregory S; Tompson, Bryan D; Fisher, David M

2016-11-01

Maxillary growth in patients with cleft lip and palate is highly variable. The authors' aim was to investigate associations between preoperative cleft lip measurements and maxillary growth determined cephalometrically in patients with complete unilateral cleft lip and palate (cUCLP). Retrospective cross-sectional study. Children with cUCLP. Preoperative cleft lip measurements were made at the time of primary cheiloplasty and available for each patient. Maxillary growth was evaluated on lateral cephalometric radiographs taken prior to any orthodontic treatment and alveolar bone grafting (8.5 ± 0.7 years). The presence of associations between preoperative cleft lip measurements and cephalometric measures of maxillary growth was determined using regression analyses. In the 58 patients included in the study, the cleft lateral lip element was deficient in height in 90% and in transverse width in 81% of patients. There was an inverse correlation between cleft lateral lip height and transverse width with a β coefficient of -0.382 (P = .003). Patients with a more deficient cleft lateral lip height displayed a shorter maxillary length (β coefficient = 0.336; P = .010), a less protruded maxilla (β coefficient = .334; P = .008), and a shorter anterior maxillary height (β coefficient = 0.306; P = .020) than those with a less deficient cleft lateral lip height. Patients with cUCLP present with varying degrees of lateral lip hypoplasia. Preoperative measures of lateral lip deficiency are related to later observed deficiencies of maxillary length, protrusion, and height.

Interdisciplinaire orthodontisch-chirurgische behandeling van schisis van 9 tot 20 jaar

NARCIS (Netherlands)

Kuijpers-Jagtman, A. M.; Mink van der Molen, A. B.; Bierenbroodspot, F.; Borstlap, W. A.

2015-01-01

Cleft lip and palate is a common congenital malformation with a prevalence of 1:600 newborns. Children with orofacial clefts are treated by an interdisciplinary team of specialists while parents and child play a key role in their own care process. The orthodontic and facial orthopedic treatment of a

Characteristics of patients with orofacial granulomatosis.

LENUS (Irish Health Repository)

McCartan, B E

2011-10-01

Orofacial granulomatosis has mostly been described in reports of very small numbers of cases. Few large case groups have been described. The aim of this study was to describe the demographics, symptoms, clinical features and laboratory findings in a large cohort of cases.

Oral Clefts and Academic Performance in Adolescence

DEFF Research Database (Denmark)

Clausen, Nicola G; Pedersen, Dorthe A; Pedersen, Jacob K

2017-01-01

OBJECTIVE:   Early life exposure to anesthesia and surgery is suspected to associate with cognitive impairment later in life. We compared academic achievement among adolescents with cleft lip only (CL), cleft palate only (CP), and cleft lip and cleft palate (CLP) with a noncleft control group to ......:   Oral cleft type rather than number and timing of anesthesia and operations associate to poorer academic performance. Although a potential neurotoxic effect due to anesthetic agents is not reflected in the data, it cannot be completely excluded.......OBJECTIVE:   Early life exposure to anesthesia and surgery is suspected to associate with cognitive impairment later in life. We compared academic achievement among adolescents with cleft lip only (CL), cleft palate only (CP), and cleft lip and cleft palate (CLP) with a noncleft control group...

Psychological issues in cleft lip and cleft palate

OpenAIRE

Sousa Avinash; Devare Shibani; Ghanshani Jyoti

2009-01-01

Vocational and social issues affect rehabilitation and development of patients with cleft lip and cleft palate. However, psychological problems like lowered self esteem and difficulties in social interaction have also been noted in them. Not many pediatric reconstructive surgery teams have a psychiatrist on their panel. It is likely that psychological problems are higher in incidence than literature actually suggests. Hence it is very essential that such cases are identified by the surgical t...

Avaliação da sensibilidade do questionário de triagem para dor orofacial e desordens temporomandibulares recomendado pela Academia Americana de Dor Orofacial The sensibility appreciation of the questionnaire for selection of orofacial pain and temporomandibular disorders recommended by the American Academy of Orofacial Pain

Directory of Open Access Journals (Sweden)

Ana Paula S. Manfredi

2001-01-01

Full Text Available Introdução: As Desordens Temporomandibulares têm interpretação muito ampla e descrevem uma população geral de pacientes sofrendo de disfunção dos músculos e articulações da mandíbula, usualmente dolorosa¹. Além da queixa de dor nos maxilares, dores de ouvido, cabeça e face, os pacientes com essas desordens muitas vezes têm movimentos mandibulares limitados ou assimétricos, e os sons da Articulação Temporomandibulares (ATM mais descritos são os estalos. Objetivo: Com o intuito de fazer uma análise qualitativa e quantitativa do uso de um instrumento de auxílio diagnóstico, foi aplicado o "Questionário para Triagem para Dor Orofacial e DTM", recomendado pela Academia Americana de Dor Orofacial (Anexo 1, ainda não testado no Brasil. A população alvo foi de pacientes com queixas de dor não-dental na região orofacial, cefaléia, otalgia e/ou nas ATM que procuraram o ambulatório médico e odontológico (CSS/CECOM mantido pela Unicamp para o atendimento de sua comunidade interna. Forma de estudo: Prospectivo clínico randomizado. Método: O questionário foi aplicado em 46 pacientes (40 mulheres e 6 homens, e posteriormente foi realizado um exame clínico específico para diagnóstico das DTM. Resultados: A análise estatística revelou que este questionário apresenta uma sensibilidade de 85.37% e uma especificidade de 80% para pacientes portadores de desordens musculares da região orofacial (Kappa = 0,454 e uma baixa sensibilidade e especificidade para desordens intra-articulares (Kappa = 0,043. Conclusão: O questionário é útil e viável para uma pré-triagem das chamadas DTM, principalmente para os distúrbios miogênicos, mas não deve ser o único recurso utilizado para diagnóstico.Introduction: The Temporomandibular Joint Disorders (TMJ Disorders has very ample interpretation and describes a population of patients suffering from muscles dysfunctions and the muscles and toggles of jaw usually painful 1. Beyond

Non-specific chronic orofacial pain patients' experiences of everyday life situations: a qualitative study.

Science.gov (United States)

Wolf, Eva; Nilner, Maria; Petersson, Kerstin

2016-01-01

Chronic orofacial pain is a complex condition with consequences that affect daily living. The aim was to analyse nonspecific chronic orofacial pain patients'experiences of everyday life situations, using a qualitative approach. Eleven women and 3 men (21 to 77years) were selected through a purposive sampling among chronic orofacial pain patients referred to the Faculty of Odontology's orofacial pain unit at Malmö University, Malmö Sweden. All selected subjects agreed to participate. Data were obtained via two thematic in-depth interviews with each subject. Interviews were taped and transcribed verbatim.Text dealing with the subjects' daily experiences was identified in all interviews and analysed using qualitative content analysis that focused on manifest content. In everyday life situations, the analysis of nonspecific chronic orofacial pain patients' narrations exposed a fear of conflict, of personal weakness, and of the intangible; they also exposed self-blame and avoidance of fear-triggering situations. Eight of the 14 subjects did not spontaneously mention any situation in which they were content during daily living. When the patients spoke about everyday life experiences, the main finding was that unpleasant emotions dominated the subjects'experiences. In conclusion, the chronic orofacial pain condition cannot be understood as an isolated phenomenon; it must be considered in rela- tion to the person who is suffering from the condition.

Risk of oral clefts in children born to mothers taking Topamax (topiramate)Risk of Oral Clefts (Cleft Lip and/or ...

Science.gov (United States)

... Drug Safety and Availability FDA Drug Safety Communication: Risk of oral clefts in children born to mothers ... data that show that there is an increased risk for the development of cleft lip and/or ...

Orofacial Pain during Mastication in People with Dementia: Reliability Testing of the Orofacial Pain Scale for Non-Verbal Individuals

Directory of Open Access Journals (Sweden)

Merlijn W. de Vries

2016-01-01

Full Text Available Objectives. The aim of this study was to establish the reliability of the “chewing” subscale of the OPS-NVI, a novel tool designed to estimate presence and severity of orofacial pain in nonverbal patients. Methods. The OPS-NVI consists of 16 items for observed behavior, classified into four categories and a subjective estimate of pain. Two observers used the OPS-NVI for 237 video clips of people with dementia in Dutch nursing homes during their meal to observe their behavior and to estimate the intensity of orofacial pain. Six weeks later, the same observers rated the video clips a second time. Results. Bottom and ceiling effects for some items were found. This resulted in exclusion of these items from the statistical analyses. The categories which included the remaining items (n=6 showed reliability varying between fair-to-good and excellent (interobserver reliability, ICC: 0.40–0.47; intraobserver reliability, ICC: 0.40–0.92. Conclusions. The “chewing” subscale of the OPS-NVI showed a fair-to-good to excellent interobserver and intraobserver reliability in this dementia population. This study contributes to the validation process of the OPS-NVI as a whole and stresses the need for further assessment of the reliability of the OPS-NVI with subjects that might already show signs of orofacial pain.

Isolated cleft palate requires different surgical protocols depending on cleft type.

Science.gov (United States)

Elander, Anna; Persson, Christina; Lilja, Jan; Mark, Hans

2017-08-01

A staged protocol for isolated cleft palate (CPO), comprising the early repair of the soft palate at 6 months and delayed repair of the eventual cleft in the hard palate until 4 years, designed to improve maxillary growth, was introduced. CPO is frequently associated with additional congenital conditions. The study evaluates this surgical protocol for clefts in the soft palate (CPS) and for clefts in the hard and soft palate (CPH), with or without additional malformation, regarding primary and secondary surgical interventions needed for cleft closure and for correction of velopharyngeal insufficiency until 10 years of age. Of 94 consecutive children with CPO, divided into four groups with (+) or without (-) additional malformations (CPS + or CPS - and CPH + or CPH-), hard palate repair was required in 53%, performed with small local flaps in 21% and with bilateral mucoperiosteal flaps in 32%. The total incidence of soft palate re-repair was 2% and the fistula repair of the hard palate was 5%. The total incidence of secondary velopharyngeal surgery was 17% until 10 years, varying from 0% for CPS - and 15% for CPH-, to 28% for CPS + and 30% for CPH+. The described staged protocol for repair of CPO is found to be safe in terms of perioperative surgical results, with comparatively low need for secondary interventions. Furthermore, the study indicates that the presence of a cleft in the hard palate and/or additional conditions have a negative impact on the development of the velopharyngeal function.

Versatality of Nasolabial Flap in Orofacial Reconstruction

Directory of Open Access Journals (Sweden)

Nandesh Shetty

2015-01-01

Materials and Methods: A total of 10 patients were selected based on the size of surgical defect. Nasolabial flap was used to reconstruct defects of small to moderate size in the oro-facial region and post-operative follow up was done. Results: All of the patients underwent inferiorly based Transposition Island flap for reconstruction of different oro-facial defects. Few complications like bulky size of the flap, slight donor site distortion (scar formation and intra-oral hair growth were seen in six patients. Two incidences of infection in the transferred flap were seen. Conclusion: It is a safe minor procedure done under general anesthesia with good reconstructive results over small or moderately sized maxillofacial defects. Proper attention to flap design, operative technique and post - operative management are useful in reducing the incidence of complications.

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

Science.gov (United States)

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

OpenAIRE

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

The efficacy of anticonvulsants on orofacial pain: a systematic review.

Science.gov (United States)

Martin, Wilhelmus J J M; Forouzanfar, Tymour

2011-05-01

Controversy exists about the effectiveness of anticonvulsants for the management of orofacial pain disorders. To ascertain appropriate therapies, a systematic review was conducted of existing randomized controlled trials. Trials were identified from PubMed, Cochrane, and Ovid Medline databases from 1962 through March 2010, from references in retrieved reports, and from references in review articles. Eight useful trials were identified for this review. Six studies were randomized placebo-controlled trials and 2 studies were randomized active-controlled. Two independent investigators reviewed these articles by using a 15-item checklist. Four studies were classified as "high quality." However, heterogeneity of the trials and the small sample sizes precluded the drawing of firm conclusions about the efficacy of the interventions studied on orofacial pain patients. There is limited to moderate evidence supporting the efficacy of commonly used anticonvulsants for treatment of patients with orofacial pain disorders. More randomized controlled trials are needed on the efficacy of anticonvulsants. Copyright © 2011 Mosby, Inc. All rights reserved.

Surgical repair of large cyclodialysis clefts.

Science.gov (United States)

Gross, Jacob B; Davis, Garvin H; Bell, Nicholas P; Feldman, Robert M; Blieden, Lauren S

2017-05-11

To describe a new surgical technique to effectively close large (>180 degrees) cyclodialysis clefts. Our method involves the use of procedures commonly associated with repair of retinal detachment and complex cataract extraction: phacoemulsification with placement of a capsular tension ring followed by pars plana vitrectomy and gas tamponade with light cryotherapy. We also used anterior segment optical coherence tomography (OCT) as a noninvasive mechanism to determine the extent of the clefts and compared those results with ultrasound biomicroscopy (UBM) and gonioscopy. This technique was used to repair large cyclodialysis clefts in 4 eyes. All 4 eyes had resolution of hypotony and improvement of visual acuity. One patient had an intraocular pressure spike requiring further surgical intervention. Anterior segment OCT imaging in all 4 patients showed a more extensive cleft than UBM or gonioscopy. This technique is effective in repairing large cyclodialysis clefts. Anterior segment OCT more accurately predicted the extent of each cleft, while UBM and gonioscopy both underestimated the size of the cleft.

Lower lip deformity in patients with cleft and non-cleft Class III malocclusion before and after orthognathic surgery.

Science.gov (United States)

Park, Joo Seok; Koh, Kyung S; Choi, Jong Woo

2015-10-01

Orthognathic surgery does not yield the same cosmetic benefits in patients with Class III jaw deformities associated with clefts as for patients without clefts. Preoperative upper lip tightness caused by cleft lip repair may not fully explain this difference, suggesting that a lower lip deformity is present. The study compared the outcomes of orthognathic surgery in patients with cleft and non-cleft Class III malocclusion, focusing on lip relationship. The surgical records of 50 patients with Class III malocclusion, including 25 with and 25 without clefts, who had undergone orthognathic surgery, were retrospectively analyzed. Lateral cephalometric tracings, preoperatively and at 6 months postoperatively, were superimposed to analyze the soft tissue changes at seven reference points. At 6 months after surgery, there were no significant differences in skeletal location, whereas the soft tissues of the lower lip differed significantly between patients with and without cleft (p=0.002), indicating the persistence of a lower lip deformity in cleft patients. Moreover, the soft tissues of the lower lip receded in non-cleft patients and protruded in cleft patients after orthognathic surgery. Lower lip deformity and upper lip tightness may result in an unsatisfactory relationship between the upper and lower lips of patients with cleft-related jaw deformity after orthognathic surgery. Other factors were less important than the pathology of the lower lip. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Clinical Study of Second Branchial Cleft Anomalies.

Science.gov (United States)

Lee, Dong Hoon; Yoon, Tae Mi; Lee, Joon Kyoo; Lim, Sang Chul

2018-03-30

The objective of this study was to review the clinical characteristics and surgical treatment outcomes of second branchial cleft anomalies, and to evaluate the usefulness and accuracy of preoperative fine-needle aspiration cytology (FNAC) in the diagnosis of branchial cleft cysts. A retrospective chart review was performed at Chonnam National University Hwasun Hospital from January 2010 to December 2016. Among 25 patients with second branchial cleft anomalies, in 23 patients (92.0%), these anomalies presented as cysts, and in the remaining 2 patients (8.0%), these anomalies presented as fistulas. Fine-needle aspiration cytology had a diagnostic sensitivity of 100%, a positive-predictive value of 100%, and accuracy of 100% for diagnosing second branchial cleft cyst. All patients of second branchial cleft anomalies were treated surgically under general anesthesia. No recurrence of second branchial cleft anomalies was observed. Branchial cleft cysts were the most common type of second branchial cleft anomalies. Preoperative FNAC is a useful and accurate method for preoperative evaluation of branchial cleft cysts. Surgical excision of second branchial cleft anomalies is the treatment of choice without any complications and with no recurrence.

Local vs. systemic administration of bisphosphonates in rat cleft bone graft: A comparative study.

Directory of Open Access Journals (Sweden)

Christine Hong

Full Text Available A majority of patients with orofacial cleft deformity requires cleft repair through a bone graft. However, elevated amount of bone resorption and subsequent bone graft failure remains a significant clinical challenge. Bisphosphonates (BPs, a class of anti-resorptive drugs, may offer great promise in enhancing the clinical success of bone grafting. In this study, we compared the effects of systemic and local delivery of BPs in an intraoral bone graft model in rats. We randomly divided 34 female 20-week-old Fischer F344 Inbred rats into four groups to repair an intraoral critical-sized defect (CSD: (1 Control: CSD without graft (n = 4; (2 Graft/Saline: bone graft with systemic administration of saline 1 week post-operatively (n = 10; (3 Graft/Systemic: bone graft with systemic administration of zoledronic acid 1 week post-operatively (n = 10; and (4 Graft/Local: bone graft pre-treated with zoledronic acid (n = 10. At 6-weeks post-operatively, microCT volumetric analysis showed a significant increase in bone fraction volume (BV/TV in the Graft/Systemic (62.99 ±14.31% and Graft/Local (69.35 ±13.18% groups compared to the Graft/Saline (39.18±10.18%. Similarly, histological analysis demonstrated a significant increase in bone volume in the Graft/Systemic (78.76 ±18.00% and Graft/Local (89.95 ±4.93% groups compared to the Graft/Saline (19.74±18.89%. The local delivery approach resulted in the clinical success of bone grafts, with reduced graft resorption and enhanced osteogenesis and bony integration with defect margins while avoiding the effects of BPs on peripheral osteoclastic function. In addition, local delivery of BPs may be superior to systemic delivery with its ease of procedure as it involves simple soaking of bone graft materials in BP solution prior to graft placement into the defect. This new approach may provide convenient and promising clinical applications towards effectively managing cleft patients.

A Relationship between nasolabial appearance and self-esteem in adolescent with repaired cleft lip and cleft palate at Khon Kaen University Cleft Center.

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Patjanasoontornm, Niramol; Wongniyom, Kusalapom; Pradubwong, Suteera; Piyavhakul, Navanant; Chowchuen, Bowornsilp

2014-10-01

To examine levels of self-esteem of adolescents with repaired cleft lip and cleft palate at Khon Kaen University Cleft Center and its correlation with nasolabial appearance. Across-sectional survey of 93 adolescents with repaired cleft lip and palate. A total nasolabial appearance score was 2.8 +/- 0.36 (fair to good). The mean of the total self-esteem score for all respondents was 20.11 +/- 3.27 (maximum 30). There was no-significant correlation between nasolabial appearance and self esteem (Pearson product-moment correlation coefficiency (r) = 0.18, p = 0.08. The self-esteem scores of good, fair and poor appearance were 20.5 +/- 0.98, 19.8 +/- 0.32, 19 +/- 2.09 respectively. The nasolabial appearance of repaired cleft lip and palate not be the only factor but other psychosocialfactors also may play a role in their self-esteem. The analysis of this study found no relationship between self-esteem and appearance.

Current surgical practices in cleft care: cleft palate repair techniques and postoperative care.

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Katzel, Evan B; Basile, Patrick; Koltz, Peter F; Marcus, Jeffrey R; Girotto, John A

2009-09-01

The purpose of this study was to objectively report practices commonly used in cleft palate repair in the United States. This study investigates current surgical techniques, postoperative care, and complication rates for cleft palate repair surgery. All 803 surgeon members of the American Cleft Palate-Craniofacial Association were sent online and/or paper surveys inquiring about their management of cleft palate patients. Three-hundred six surveys were received, a 38 percent response rate. This represented responses of surgeons from 100 percent of American Cleft Palate-Craniofacial Association registered cleft teams. Ninety-six percent of respondents perform a one-stage repair. Eighty-five percent of surgeons perform palate surgery when the patient is between 6 and 12 months of age. The most common one-stage repair techniques are the Bardach style (two flaps) with intravelar veloplasty and the Furlow palatoplasty. After surgery, 39 percent of surgeons discharge patients within 24 hours. Another 43 percent discharge patients within 48 hours. During postoperative management, 92 percent of respondents implement feeding restrictions. Eighty-five percent of physicians use arm restraints. Surgeons' self-reported complications rates are minimal: 54 percent report a fistula in less than 5 percent of cases. The reported need for secondary speech surgery varies widely. The majority of respondents repair clefts in one stage. The most frequently used repair techniques are the Furlow palatoplasty and the Bardach style with intravelar veloplasty. After surgery, the majority of surgeons discharge patients in 1 or 2 days, and nearly all surgeons implement feeding restrictions and the use of arm restraints. The varying feeding protocols are reviewed in this article.

Cranio-facial clefts in pre-hispanic America.

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Marius-Nunez, A L; Wasiak, D T

2015-10-01

Among the representations of congenital malformations in Moche ceramic art, cranio-facial clefts have been portrayed in pottery found in Moche burials. These pottery vessels were used as domestic items during lifetime and funerary offerings upon death. The aim of this study was to examine archeological evidence for representations of cranio-facial cleft malformations in Moche vessels. Pottery depicting malformations of the midface in Moche collections in Lima-Peru were studied. The malformations portrayed on pottery were analyzed using the Tessier classification. Photographs were authorized by the Larco Museo.Three vessels were observed to have median cranio-facial dysraphia in association with midline cleft of the lower lip with cleft of the mandible. ML001489 portrays a median cranio-facial dysraphia with an orbital cleft and a midline cleft of the lower lip extending to the mandible. ML001514 represents a median facial dysraphia in association with an orbital facial cleft and a vertical orbital dystopia. ML001491 illustrates a median facial cleft with a soft tissue cleft. Three cases of midline, orbital and lateral facial clefts have been portrayed in Moche full-figure portrait vessels. They represent the earliest registries of congenital cranio-facial malformations in ancient Peru. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Early correction of septum JJ deformity in unilateral cleft lip-cleft palate.

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Morselli, Paolo G; Pinto, Valentina; Negosanti, Luca; Firinu, Antonella; Fabbri, Erich

2012-09-01

The treatment of patients affected by unilateral cleft lip-cleft palate is based on a multistage procedure of surgical and nonsurgical treatments in accordance with the different types of deformity. Over time, the surgical approach for the correction of a nasal deformity in a cleft lip-cleft palate has changed notably and the protocol of treatment has evolved continuously. Not touching the cleft lip nose in the primary repair was dogmatic in the past, even though this meant severe functional, aesthetic, and psychological problems for the child. McComb reported a new technique for placement of the alar cartilage during lip repair. The positive results of this new approach proved that the early correction of the alar cartilage anomaly is essential for harmonious facial growth with stable results and without discomfort for the child. The authors applied the same principles used for the treatment of the alar cartilage for correction of the septum deformity, introducing a primary rhinoseptoplasty during the cheiloplasty. The authors compared two groups: group A, which underwent septoplasty during cleft lip repair; and group B, which did not. After the anthropometric evaluation of the two groups, the authors observed better symmetry regarding nasal shape, correct growth of the nose, and a strong reduction of the nasal deformity in the patients who underwent primary JJ septum deformity correction. The authors can assume that, similar to the alar cartilage, the septum can be repositioned during the primary surgery, without causing growth anomaly, improving the morphologic/functional results.

Behavioral testing in rodent models of orofacial neuropathic and inflammatory pain

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Krzyzanowska, Agnieszka; Avendaño, Carlos

2012-01-01

Orofacial pain conditions are often very debilitating to the patient and difficult to treat. While clinical interest is high, the proportion of studies performed in the orofacial region in laboratory animals is relatively low, compared with other body regions. This is partly due to difficulties in testing freely moving animals and therefore lack of reliable testing methods. Here we present a comprehensive review of the currently used rodent models of inflammatory and neuropathic pain adapted to the orofacial areas, taking into account the difficulties and drawbacks of the existing approaches. We examine the available testing methods and procedures used for assessing the behavioral responses in the face in both mice and rats and provide a summary of some pharmacological agents used in these paradigms to date. The use of these agents in animal models is also compared with outcomes observed in the clinic. PMID:23139912

Incidence of Cleft Lip and Palate in Uganda

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Dreise, Marieke; Galiwango, George; Hodges, Andrew

Objective: The purpose of the study was to estimate the need for resources for cleft repairs in Uganda by determining the overall incidence of oral-facial clefts and the ratio of isolated cleft lip to isolated cleft palate to cleft lip and palate. Design: A 1-year prospective study was implemented

CLEFT PALATE. FOUNDATIONS OF SPEECH PATHOLOGY SERIES.

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RUTHERFORD, DAVID; WESTLAKE, HAROLD

DESIGNED TO PROVIDE AN ESSENTIAL CORE OF INFORMATION, THIS BOOK TREATS NORMAL AND ABNORMAL DEVELOPMENT, STRUCTURE, AND FUNCTION OF THE LIPS AND PALATE AND THEIR RELATIONSHIPS TO CLEFT LIP AND CLEFT PALATE SPEECH. PROBLEMS OF PERSONAL AND SOCIAL ADJUSTMENT, HEARING, AND SPEECH IN CLEFT LIP OR CLEFT PALATE INDIVIDUALS ARE DISCUSSED. NASAL RESONANCE…

Association Study of Transforming Growth Factor Alpha TaqI Polymorphism and the Risk of Cleft Lip and/or Palate in an Iranian Population.

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Bagheri, Fahimeh; Ebadifar, Asghar; Khorram Khorshid, Hamid Reza; Kamali, Koorosh

2017-10-16

The aim of this study is to evaluate the association of TGFA TaqI polymorphism with nonsyndromic cleft lip and/or palate (NSCLP) in an Iranian population. In this case-control study, 113 children with NSCLP and 209 controls were included. Genotyping of the TaqI polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism methods. A p-value of control group (p = 0.422) were in Hardy-Weinberg equilibrium. There was no statistically significant difference in the genotype distribution (p = 0.059) and allele frequency (p = 0.065) of the TGFA TaqI polymorphism in the NSCLP and control groups. TGFA TaqI polymorphism was not associated with the risk of NSCLP in Iranian children. Birth Defects Research 109:1386-1389, 2017.© 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Sida cordifolia leaf extract reduces the orofacial nociceptive response in mice.

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Bonjardim, L R; Silva, A M; Oliveira, M G B; Guimarães, A G; Antoniolli, A R; Santana, M F; Serafini, M R; Santos, R C; Araújo, A A S; Estevam, C S; Santos, M R V; Lyra, A; Carvalho, R; Quintans-Júnior, L J; Azevedo, E G; Botelho, M A

2011-08-01

In this study, we describe the antinociceptive activity of the ethanol extract (EE), chloroform (CF) and methanol (MF) fractions obtained from Sida cordifolia, popularly known in Brazil as "malva branca" or "malva branca sedosa". Leaves of S. cordifolia were used to produce the crude ethanol extract and after CF and MF. Experiments were conducted on Swiss mice using the glutamate and formalin-induced orofacial nociception. In the formalin test, all doses of EE, CF and MF significantly reduced the orofacial nociception in the first (p < 0.001) and second phase (p < 0.001), which was also naloxone-sensitive. In the glutamate-induced nociception test, only CF and MF significantly reduced the orofacial nociceptive behavior with inhibition percentage values of 48.1% (100 mg/kg, CF), 56.1% (200 mg/kg, CF), 66.4% (400 mg/kg, CF), 48.2 (200 mg/kg, MF) and 60.1 (400 mg/kg, MF). Furthermore, treatment of the animals with EE, CF and MF was not able to promote motor activity changes. These data demonstrate that S. cordifolia has a pronounced antinociceptive activity on orofacial nociception. However, pharmacological and chemical studies are necessary in order to characterize the responsible mechanisms for this antinociceptive action and also to identify other bioactive compounds present in S. cordifolia. Copyright © 2011 John Wiley & Sons, Ltd.

Orofacial pain of cervical origin: A case report.

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Ganesh, G Shankar; Sahu, Mamata Manjari; Tigga, Pramod

2018-04-01

The etiopathogenesis of orofacial pain remains complex and a number of pain referral patterns for this region have been reported in the literature. The purpose of this report is to describe the assessment and successful clinical management of orofacial pain possibly attributable to cervical origin. A 55-year-old male teacher with a 3-year history of pain in the right lower jaw, radiating to the ear, consulted our institute for assessment and management. The patient was unsuccessfully treated for dental pain and trigeminal neuralgia. The patient's functioning was grossly limited and the patient was unable to sleep because of severe pain. Current and previous medical and physical examinations revealed no infection, malignancies, or sinusitis. Palpation revealed no temporomandibular disorder, tenderness or myofascial trigger points. Examination of the cervical range of motion showed a reduction in rotation to the right side. The patient was treated for upper cervical joint dysfunction involving mobilization of the first three cervical vertebrae and motor control exercises. The patient had an almost complete resolution of symptoms and reported significant improvement in the Patient Specific Functional Scale (PSFS) and the Global Rating of Change (GRC) scale. This case study demonstrates the importance of considering, assessing and treating the cervical spine as a possible source of orofacial pain, and the positive role of cervical mobilization on these disorders. Copyright © 2017 Elsevier Ltd. All rights reserved.

Not All Clefts Are Created Equal: Patterns of Hospital-Based Care Use among Children with Cleft Lip and Palate within 4 Years of Initial Surgery.

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Ligh, Cassandra A; Fox, Justin P; Swanson, Jordan; Yu, Jason W; Taylor, Jesse A

2016-06-01

This study compares hospital-based care and associated charges among children with cleft lip, cleft palate, or both, and identifies subgroups generating the greatest cumulative hospital charges. The authors conducted a retrospective cohort study of cleft lip, cleft palate, or cleft lip and palate who underwent initial surgery from 2006 to 2008 in four U.S. states. Primary outcome was hospital-based care-emergency, outpatient, inpatient-within 4 years of surgery. Regression models compared outcomes and classification tree analysis identified patients at risk for being in the highest quartile of cumulative hospital charges. The authors identified 4571 children with cleft lip (18.2 percent), cleft palate (39.2 percent), or cleft lip and palate (42.6 percent). Medical comorbidity was frequent across all groups, with feeding difficulty (cleft lip, 2.4 percent; cleft palate, 13.4 percent; cleft lip and palate, 6.0 percent; p cleft lip, 1.8 percent; cleft palate, 9.4 percent; cleft lip and palate, 3.6 percent; p cleft palate were most likely to return to the hospital (p cleft lip group, yet comparable among those with cleft palate and cleft lip and palate (p cleft palate cohort (cleft lip, $56,966; cleft palate, $106,090; cleft lip and palate, $91,263; p cleft lip versus cleft palate with or without cleft lip), and age at initial surgery were the most important factors associated with the highest quartile of cumulative hospital charges. Cleft lip and palate children experience a high rate of hospital-based care early in life, with degree of medical comorbidity being a significant burden. Understanding this relationship and associated needs may help deliver more efficient, patient-centered care.

Comparative Assessment of the Cleft Profile by Patients with Cleft Lip and Palate, Cleft Surgeons, and Lay People.

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Meng, Tian; Ma, Lian; Wang, Zhi

2015-10-01

This cross-sectional study aimed to compare subjective assessments among patients with cleft lip and palate (CLP), cleft surgeons, and lay people regarding the soft tissue lateral profile of CLP patients. We also investigated the correlations between subjective assessments and photogrammetric measurements. A total of 150 CLP patients who wished to have treatment for their unattractive appearance were randomly selected. A standard lateral profile color photograph was taken. Panels of three cleft surgeons, ten CLP patients, and ten lay people were selected to be assessors. They rated nasal tip projection, nasolabial esthetics, upper and lower lip esthetics, and the profile for each photograph. Three angular measurements (nasal prominence angle, nasolabial angle, and lip angle) were measured for each photograph. Kendall's coefficient of concordance and logistic regression were used for statistical analysis. Kendall's coefficient of concordance of nasal tip projection, nasolabial esthetics, upper and lower lip esthetics, and the profile were 0.734, 0.683, 0.828, and 0.747, respectively (p lay people (p lay people have similar attitudes to the appearance of CLP patients. Upper and lower lip esthetics is associated with the assessment of the cleft profile that is provided by CLP patients, cleft surgeons, and lay people. In addition, nasal tip projection is another determining factor for lay people. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Clinical neurophysiology and quantitative sensory testing in the investigation of orofacial pain and sensory function.

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Jääskeläinen, Satu K

2004-01-01

Chronic orofacial pain represents a diagnostic and treatment challenge for the clinician. Some conditions, such as atypical facial pain, still lack proper diagnostic criteria, and their etiology is not known. The recent development of neurophysiological methods and quantitative sensory testing for the examination of the trigeminal somatosensory system offers several tools for diagnostic and etiological investigation of orofacial pain. This review presents some of these techniques and the results of their application in studies on orofacial pain and sensory dysfunction. Clinical neurophysiological investigation has greater diagnostic accuracy and sensitivity than clinical examination in the detection of the neurogenic abnormalities of either peripheral or central origin that may underlie symptoms of orofacial pain and sensory dysfunction. Neurophysiological testing may also reveal trigeminal pathology when magnetic resonance imaging has failed to detect it, so these methods should be considered complementary to each other in the investigation of orofacial pain patients. The blink reflex, corneal reflex, jaw jerk, sensory neurography of the inferior alveolar nerve, and the recording of trigeminal somatosensory-evoked potentials with near-nerve stimulation have all proved to be sensitive and reliable in the detection of dysfunction of the myelinated sensory fibers of the trigeminal nerve or its central connections within the brainstem. With appropriately small thermodes, thermal quantitative sensory testing is useful for the detection of trigeminal small-fiber dysfunction (Adelta and C). In neuropathic conditions, it is most sensitive to lesions causing axonal injury. By combining different techniques for investigation of the trigeminal system, an accurate topographical diagnosis and profile of sensory fiber pathology can be determined. Neurophysiological and quantitative sensory tests have already highlighted some similarities among various orofacial pain conditions

Unusual case of cleft hand

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Sahasrabudhe Parag

2007-01-01

Full Text Available We present a case of a six-year-old male child with cleft hand deformity involving the dominant right hand. It was a rare case of atypical cleft hand with no missing tissue but cleft extending to metacarpal level and associated hypoplasia of thumb and index finger. As per Manske′s classification of cleft hand our patient belongs to the Class III variety. There was associated malposition of the index finger with absence of first web space and syndactly of thumb and index finger at the metacarpal level. A modified Snow-Littler procedure was planned. The surgical plan involved closure of cleft, release of thumb and index finger syndactly and reconstruction of the first web space. The functional outcome was good considering hypoplasia of the index finger and thumb. Depending upon the function of the thumb tendon transfers can be planned to augment thumb function at a later date along with correction of rotational deformities of the index and middle finger.

Diagnosis and treatment of orofacial pain in a patient with unserviceable complete dentures: A clinical report.

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Selecman, Audrey M; Ahuja, Swati A

2018-02-08

An ill-fitting complete denture has the potential to create pain and discomfort as well as conceal or confound the diagnosis of other primary sources of orofacial pain such as trigeminal neuralgia. Guidelines of the American Academy of Orofacial Pain offer an evidence-based approach for the assessment, diagnosis, and management of orofacial pain. A complete and accurate differential diagnosis is paramount to the success of treatment as well as to the circumvention of unnecessary therapy. The purpose of this clinical report was to emphasize an evidence-based approach to the diagnosis and treatment of orofacial pain in a patient with edentulism and a history of prolonged denture wear. Copyright © 2017 Editorial Council for the Journal of Prosthetic Dentistry. Published by Elsevier Inc. All rights reserved.

Role of genes in oro-dental diseases

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Kavitha B

2010-01-01

Full Text Available In oral cavity, the spectrum of diseases due to genetic alterations ranges from developmental disturbances of teeth to the pre-cancerous and cancerous lesions. Of late, significant progress has been made in the molecular analysis of tumors. With molecular genetic testing emerging as diagnostic, prognostic, and therapeutic approach, a review of genetic alterations ranging from the development of oro-facial structures to the tumors in the head and neck region are addressed in this article. The functional regulatory aspect of genes in relation to oro-facial structures are discussed separately, i.e., in relation to tooth genesis, tooth agenesis (non-syndromic, syndromic, tooth structural alterations, syndromic oro-facial defects, bone diseases, skin diseases (genodermatoses, and malignant tumors. In this literature, various genes involved in the development of the oro-facial structures and tooth in particular are discussed. The genetic basis of disorders in the tooth development (agenesis, hypodontia, tooth structural defects like amelogenesis imperfecta (AI, dentinogenesis imperfecta (DI, and oro-facial structural alterations (various syndromes are explained.

Benign Orofacial Lesions in Libyan Population: A 17 Years Retrospective Study.

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Hatem, Marwa; Abdulmajid, Ziad S; Taher, Elsanousi M; El Kabir, Mohamed A; Benrajab, Mohamed A; Kwafi, Rafik

2015-01-01

To analyze the frequency and type of benign orofacial lesions submitted for diagnosis at Tripoli Medical Centre over 17 years period (1997-2013). Entries for specimens from patients were retrieved and compiled into 9 diagnostic categories and 82 diagnoses. During the 17 years period, a total of 975 specimens were evaluated, it comprised a male-female ratio of 0.76:1. The mean age of biopsied patients was 36.3±18.32 years. The diagnostic category with the highest number of specimens was skin and mucosal pathology (22.87%); and the most frequent diagnosis was pyogenic granuloma (14.05%). Pyogenic granuloma, lichen planus, radicular cyst and fibroepithelial polyp were found to be the most predominant diagnoses. Frequencies of most benign orofacial diseases were comparable to similar studies in the literature and to those reported from the eastern region of Libya. Further surveys are needed to define the epidemiology of orofacial diseases in Libyan population.

Management of Refractory Orofacial Dyskinesia Caused by Anti-N-methyl-d-aspartate Receptor Encephalitis Using Botulinum Toxin

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Feixia Zheng

2018-02-01

Full Text Available The use of botulinum neurotoxin serotype A (BoNT-A injections for the treatment of orofacial dyskinesia secondary to anti-N-methyl-d-aspartate receptor (NMDAR encephalitis is rarely reported. Here, we report a case of an urgent, successful management of severe orofacial dyskinesia in an 8-year-old girl with anti-NMDAR encephalitis using BoNT-A injection. The patient presented with de novo unilateral paroxysmal movement disorder progressing to generalized dystonia and repetitive orofacial dyskinesia. Diagnosis was confirmed by the presence of NMDAR antibodies in serum and cerebrospinal fluid. The orofacial dyskinesia worsened despite the aggressive use of first-line immunotherapy and second-line immunotherapy (rituximab, and resulted in a potentially fatal self-inflicted oral injury. We urgently attempted symptomatic management using BoNT-A injections in the masseter, and induced muscle paralysis using vecuronium. The patient’s severe orofacial dyskinesia was controlled. We observed the effects of the BoNT-A injections and a tapering off of the effects of vecuronium 10 days after the treatment. The movement disorder had improved significantly 4 weeks after the first administration of rituximab. The injection of BoNT-A into the masseter may be an effective treatment for medically refractory orofacial dyskinesia in pediatric patients with anti-NMDAR encephalitis. We propose that the use of BoNT-A injections should be considered early to avoid self-inflicted oral injury due to severe refractory orofacial dyskinesia in patients with anti-NMDAR encephalitis.

A case of unilateral atypical orofacial pain with Eagle's syndrome

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G V Sowmya

2016-01-01

Full Text Available Eagle's syndrome is not an uncommon condition, but less known to physicians, where an elongated styloid process or calcified stylohyoid ligament compresses the adjacent anatomical structures leading to orofacial pain. Diagnosis is made with appropriate radiological examination. Nonsurgical treatment options include reassurance, analgesia, and anti.inflammatory medications; and the surgical option includes a transoral or external approach. Here, we present a case report of a male patient, of age38 years, with a chief complaint of unilateral atypical orofacial pain on the right side of his face radiating to the neck region, for the last two months.

Concordance of MRI and EEG Focal Slowing in Nonsyndromic Epilepsy

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J Gordon Millichap

2013-04-01

Full Text Available Investigators at the Kangwon National University, Korea, and The Epilepsy Center, Lurie Children’s Hospital of Chicago, USA studied the correlation and significance of EEG focal slowing and focal MRI abnormalities in 253 children with nonsyndromic epilepsy.

Efficacy of low-level laser therapy on orofacial pain: A literature review

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Haleh Zokaee

2018-01-01

Full Text Available Low-level laser therapy (LLLT is a therapeutic approach to treat orofacial pain using a 600–1000 nm laser with a <500 mW power. The efficacy of LLLT is due to the chemical reactions causing an anti-inflammatory and analgesic effect on the affected regions. The aim of this study is to review the effects of low-level laser application on orofacial pain in the English articles released since 2017. Our search keywords were 'low-level laser therapy, temporomandibular disease (TMD, mucositis and orofacial pain'. The most relevant papers were clinical trial, review and meta-analysis articles. 26 out of 243 searched articles were selected from PubMed, Google Scholar and Science Direct and reviewed. Most of the studies reported the positive role of LLLT on orofacial pain relief regardless of their variable procedures; however, the exact mechanism of action still remains unclear. Some studies indicated that LLLT has significantly reduced pain, reduceamount of clicking and both masseter and temporal muscles activityin TMD. As an overall result, it is concluded that LLLT can be served as a therapeutic method for myofascial pain, mucositis and temporomandibular joint disorders and this is due to its analgesic features.

The Fetal Cleft palate: V. Elucidation of the Mechanism of Palatal Clefting in the Congenital Caprine Model

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Maternal ingestion of Nicotiana glauca from gestation days 32 through 41 results in a high incidence of cleft palate in Spanish goats. This caprine cleft palate model was used to evaluate the temporal sequence of palatal shelf fusion throughout the period of cleft induction with the poisonous plant...

Cleft Lip and Palate

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... Cleft Lip or Cleft Palate Print en español Labio leporino y paladar hendido Tilt your head back a bit and look in the mirror. Do you see the way your nose connects to your upper lip? Now open your mouth. Do you see the ...

Occlusal Classification in Relation to Original Cleft Width in Patients With Unilateral Cleft Lip and Palate.

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Huang, Andrew H; Patel, Kamlesh B; Maschhoff, Clayton W; Huebener, Donald V; Skolnick, Gary B; Naidoo, Sybill D; Woo, Albert S

2015-09-01

To determine a correlation between the width of the cleft palate measured at the time of lip adhesion, definitive lip repair, and palatoplasty and the subsequent occlusal classification of patients born with unilateral cleft lip and palate. Retrospective, observational study. Referral, urban, children's hospital Participants : Dental models and records of 270 patients were analyzed. None. Angle occlusion classification. The mean age at which occlusal classification was determined was 11 ± 0.3 years. Of the children studies, 84 were diagnosed with Class I or II occlusion, 67 were diagnosed with Class III occlusion, and 119 were lost to follow up or transferred care. Mean cleft widths were significantly larger in subjects with Class III occlusion for all measures at time of lip adhesion and definitive lip repair (P cleft widths were significantly greater at the alveolus (P = .025) but not at the midportion of the hard palate (P = .35) or posterior hard palate (P = .10). Cleft widths from the lip through to the posterior hard palate are generally greater in children who are diagnosed with Class III occlusion later in life. Notably, the alveolar cleft width is significantly greater at each time point for patients who went on to develop Class III occlusion. There were no significant differences in cleft widths between patients diagnosed later with Class I and Class II occlusions.

Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia.

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Astanand Jugessur

Full Text Available Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark: 235 case-parent triads.We used two complementary statistical methods, TRIMM and HAPLIN, to look for associations across these two national samples. TRIMM tests for association in each gene by using multi-SNP genotypes from case-parent triads directly without the need to infer haplotypes. HAPLIN on the other hand estimates the full haplotype distribution over a set of SNPs and estimates relative risks associated with each haplotype. For isolated cleft lip with or without cleft palate (I-CL/P, TRIMM and HAPLIN both identified significant associations with IRF6 and ADH1C in both populations, but only HAPLIN found an association with FGF12. For isolated cleft palate (I-CP, TRIMM found associations with ALX3, MKX, and PDGFC in both populations, but only the association with PDGFC was identified by HAPLIN. In addition, HAPLIN identified an association with ETV5 that was not detected by TRIMM.Strong associations with seven genes were replicated in the Scandinavian samples and our approach effectively replicated the strongest previously known association in clefting--with IRF6. Based on two national cleft cohorts of similar ancestry, two robust statistical methods and a large panel of SNPs in the most promising cleft candidate genes to date, this study identified a previously unknown association with clefting for ADH1C and provides additional candidates and analytic approaches to advance the field.

Orofacial pain and numb chin syndrome as the presenting symptoms of a metastatic prostate cancer.

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Gaver A

2002-10-01

Full Text Available We describe a patient with orofacial pain as the presenting symptom caused by a mandibular metastasis from a previously undiagnosed cancer of the prostate. This possibility should be considered in the differential diagnosis of male patients presenting with orofacial pain.

Dental fear in children with a cleft lip and/or cleft Palate

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Vogels, W.E.J.C.; Aartman, I.H.A.; Veerkamp, J.S.J.

2011-01-01

Objective: To assess the level of dental fear in children with a cleft lip and/or palate, to compare this level with that of a normative group testing the hypothesis that children with a cleft lip and/or palate have a higher level of dental anxiety than children from the general population, and to

Orofacial symptoms related to temporomandibular joint arthritis in juvenile idiopathic arthritis: smallest detectable difference in self-reported pain intensity.

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Stoustrup, Peter; Kristensen, Kasper D; Verna, Carlalberta; Küseler, Annelise; Herlin, Troels; Pedersen, Thomas K

2012-12-01

Temporomandibular joint (TMJ) inflammation in patients with juvenile idiopathic arthritis (JIA) may lead to mandibular growth disturbances and interfere with optimal joint and muscle function. Orofacial symptoms are common clinical findings in relation to TMJ arthritis in adolescence. Knowledge about their clinical manifestation is important for TMJ arthritis diagnosis, treatment choice, and outcome evaluation. The aim of our prospective observational study was to evaluate and describe the frequency, the main complaints, and the localization of TMJ arthritis-related orofacial symptoms. The smallest detectable differences (SDD) for minimal, average, and maximal pain were estimated. Thirty-three patients with JIA and arthritis-related orofacial symptoms in relation to 55 affected TMJ were included in our questionnaire study (mean age 14.11 yrs). Calculation of the SDD was based on a duplicate assessment 45 min after the first questionnaire was completed. The majority of the patients had common orofacial symptoms during mastication and maximal mouth opening procedures. Persistent orofacial symptoms were rare. The TMJ area in combination with the masseter muscle region was the orofacial region where symptoms were most common. The SDD for minimal, average, and maximal pain were between 10 and 14 mm on a visual analog scale. Our study offers new knowledge about TMJ arthritis-related orofacial symptoms that may aid diagnosis and clinical decision-making. We suggest that TMJ arthritis-related orofacial symptoms could be understood as products of the primary TMJ inflammation in combination with secondary myogenic and functional issues.

Clinical presentation of epignathus teratoma with cleft palate; and duplication of cranial base, tongue, mandible, and pituitary gland.

Science.gov (United States)

Maeda, Yujiro; Suenaga, Hideyuki; Sugiyama, Madoka; Saijo, Hideto; Hoshi, Kazuto; Mori, Yoshiyuki; Takato, Tsuyoshi

2013-07-01

A 2-day-old girl was diagnosed with an oral epignathus teratoma and an uncommon combination of orofacial malformations including cleft palate; tongue, mandible, cranial base, cervical vertebrae, lower lip, and pituitary gland duplications; and fistula of the glabella and lower lip. Computed tomography revealed that the mass within the nasal cavity had tooth-like calcifications and protruded into the nasopharynx and oral cavity. It was implanted on the anterior wall of the body of the sphenoid bone and was accompanied with mandibular duplication. Magnetic resonance imaging detected duplication of the pituitary gland and confirmed the absence of intracranial communication of the nasopharyngeal mass. The teratoma did not cause respiratory obstruction; however, the patient required continuous nasogastric tube feeding. Usually, an epignathus teratoma is associated with few midline defects and can be corrected with multiple interventions at different time points. The current study describes the surgical procedure comprising excision of the tumor along with reconstructive surgeries of the mandible, tongue, and fistulae undertaken when the infant reached 7 months of age. The cleft palate was repaired at 18 months of age using the Kaplan buccal flap method. Histopathologic examination confirmed a grade 0 teratoma covered with keratinized skin and containing pilosebaceous and sweat glands, adipose tissue, and smooth muscle. The long-term success of this intervention was determined at the follow-up examination conducted at 3 years of age, with no signs of the teratoma recurrence observed.

Trigeminal nerve injury-induced thrombospondin-4 up-regulation contributes to orofacial neuropathic pain states in a rat model.

Science.gov (United States)

Li, K-W; Kim, D-S; Zaucke, F; Luo, Z D

2014-04-01

Injury to the trigeminal nerve often results in the development of chronic pain states including tactile allodynia, or hypersensitivity to light touch, in orofacial area, but its underlying mechanisms are poorly understood. Peripheral nerve injury has been shown to cause up-regulation of thrombospondin-4 (TSP4) in dorsal spinal cord that correlates with neuropathic pain development. In this study, we examined whether injury-induced TSP4 is critical in mediating orofacial pain development in a rat model of chronic constriction injury to the infraorbital nerve. Orofacial sensitivity to mechanical stimulation was examined in a unilateral infraorbital nerve ligation rat model. The levels of TSP4 in trigeminal ganglia and associated spinal subnucleus caudalis and C1/C2 spinal cord (Vc/C2) from injured rats were examined at time points correlating with the initiation and peak orofacial hypersensitivity. TSP4 antisense and mismatch oligodeoxynucleotides were intrathecally injected into injured rats to see if antisense oligodeoxynucleotide treatment could reverse injury-induced TSP4 up-regulation and orofacial behavioural hypersensitivity. Our data indicated that trigeminal nerve injury induced TSP4 up-regulation in Vc/C2 at a time point correlated with orofacial tactile allodynia. In addition, intrathecal treatment with TSP4 antisense, but not mismatch, oligodeoxynucleotides blocked both injury-induced TSP4 up-regulation in Vc/C2 and behavioural hypersensitivity. Our data support that infraorbital nerve injury leads to TSP4 up-regulation in trigeminal spinal complex that contributes to orofacial neuropathic pain states. Blocking this pathway may provide an alternative approach in management of orofacial neuropathic pain states. © 2013 European Pain Federation - EFIC®

The effects of blocking N/OFQ receptors on orofacial pain following experimental tooth movement in rats.

Science.gov (United States)

Shan, Di; He, Yuwei; Long, Hu; Zhou, Yang; Liu, He; Xu, Rui; Huang, Renhuan; Lai, Wenli

2016-11-01

The aim of this study was to determine the effects of nociceptin/orphanin FQ peptide receptor (N/OFQ receptor) antagonist on orofacial pain induced by experimental tooth movement in rats. A total of 36 male Sprague-Dawley rats weighing 200-300 g were divided into six groups: a control group, force group, force+saline intraperitoneal group, force+saline periodontal group, force+UFP-101 ([Nphe¹,Arg¹⁴,Lys¹⁵]N/OFQ-NH ₂ antagonist for N/OFQ receptor) intraperitoneal group, and force+UFP-1 01 periodontal group. Closed coil springs were ligated between the upper incisors and first molar to exert an orthodontic force (40 g) between the teeth. Injectable administration dosages were 30 μl saline or 30 μl saline containing 0.03 mg/kg UFP-1 01. Following the injections, orofacial pain levels were assessed through directed face grooming (mouth wiping). Statistical analyses were performed in SPSS 17.0 (Statistical Package for the Social Sciences) and p values less than 0.05 were considered as statistically significant. Orofacial pain levels were significantly higher in the force group than in the control group. Orofacial pain levels differed significantly between the force)group, force+saline periodontal group and force+UFP-101 periodontal group, but were similar between the control group, force+UFP-101 intraperitoneal group and force+saline intraperitoneal group. Moreover, orofacial pain levels did not differ between the force group, force+saline intraperitoneal group and force+UFP-1 01 intraperitoneal group. Periodontal, but not intraperitoneal, administration of UFP-101 could alleviate orofacial pain induced by experimental tooth movement in rats, suggesting that periodontal N/OFQ receptors participate in orofacial pain induced by experimental tooth movement.

Termo do 1º Consenso em Disfunção Temporomandibular e Dor Orofacial Statement of the 1st Consensus on Temporomandibular Disorders and Orofacial Pain

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Simone Vieira Carrara

2010-06-01

Full Text Available O Termo do 1º Consenso em Disfunção Temporomandibular e Dor Orofacial* foi criado com o propósito de substituir divergências por evidência científica dentro dessa especialidade da Odontologia. O documento oferece informações claras e fundamentadas para orientar o cirurgião-dentista e demais profissionais de saúde sobre os cuidados demandados pelo paciente, tanto no processo de diagnóstico diferencial quanto na fase de aplicação das terapias de controle da dor e disfunção. O Termo foi aprovado no mês de janeiro de 2010 em reunião realizada durante o Congresso Internacional de Odontologia do Estado de São Paulo e converge o pensamento dos profissionais mais conceituados do Brasil na especialidade Disfunção Temporomandibular e Dor Orofacial.This Statement of the 1st Consensus on Temporomandibular Disorders and Orofacial Pain was created with the purpose of substituting controversies for scientific evidence within this specialty field of dentistry. The document provides clear and well-grounded guidance to dentists and other health professionals about the care required by patients both in the process of differential diagnosis and during the stage when they undergo treatment to control pain and dysfunction. The Statement was approved in January 2010 at a meeting held during the International Dental Congress of São Paulo and draws together the views of Brazil's most respected professionals in the specialty of Temporomandibular Disorders and Orofacial Pain.

Aspiration pneumonia in patients with cleft palate

Energy Technology Data Exchange (ETDEWEB)

Lee, Seung Hun; Choi, Yo Won; Jeon, Seok Chol; Park, Choong Ki; Uhm, Ki Il [Hanyang University College of Medicine, Seoul (Korea, Republic of)

2003-03-01

To assess the incidence of aspiration pneumonia in infants with cleft palate and to compare the incidence between complete and incomplete types of cleft palate. A review of medical records revealed 100 infants who had undergone initial surgery to repair cleft palate in our hospital during a recent three-year period. Aspiration pneumonia was defined as the coexistence of pneumonia at chest radiography with a history of frequent choking during feeding. The anatomic distribution of aspiration pneumonia was analyzed, and the incidences of aspiration pneumonia in infants with complete and incomplete cleft palate were compared. Among 100 children, aspiration pneumonia was found in 35 (35%). Those with complete and incomplete cleft palate showed similar incidences of the condition (27 of 70 [39%] vs 8 of 30 [27%], p=0.36). Pneumonia was most commonly seen in the left lower lobe (11 of 35), followed by the right upper and lower lobes. Aspiration pneumonia is frequently associated with infants with cleft palate. There is no statistical difference in the incidence of aspiration pneumonia between the complete and the incomplete cleft palate group.

Aspiration pneumonia in patients with cleft palate

International Nuclear Information System (INIS)

Lee, Seung Hun; Choi, Yo Won; Jeon, Seok Chol; Park, Choong Ki; Uhm, Ki Il

2003-01-01

To assess the incidence of aspiration pneumonia in infants with cleft palate and to compare the incidence between complete and incomplete types of cleft palate. A review of medical records revealed 100 infants who had undergone initial surgery to repair cleft palate in our hospital during a recent three-year period. Aspiration pneumonia was defined as the coexistence of pneumonia at chest radiography with a history of frequent choking during feeding. The anatomic distribution of aspiration pneumonia was analyzed, and the incidences of aspiration pneumonia in infants with complete and incomplete cleft palate were compared. Among 100 children, aspiration pneumonia was found in 35 (35%). Those with complete and incomplete cleft palate showed similar incidences of the condition (27 of 70 [39%] vs 8 of 30 [27%], p=0.36). Pneumonia was most commonly seen in the left lower lobe (11 of 35), followed by the right upper and lower lobes. Aspiration pneumonia is frequently associated with infants with cleft palate. There is no statistical difference in the incidence of aspiration pneumonia between the complete and the incomplete cleft palate group

Orofacial pain during mastication in people with dementia : Reliability testing of the orofacial pain scale for non-verbal individuals

NARCIS (Netherlands)

de Vries, M.W.; Visscher, C.; Delwel, S.; van der Steen, J.T.; Pieper, M.J.C.; Scherder, E.J.A.; Achterberg, W.P.; Lobbezoo, F.

2016-01-01

Objectives. The aim of this study was to establish the reliability of the “chewing” subscale of the OPS-NVI, a novel tool designed to estimate presence and severity of orofacial pain in nonverbal patients. Methods. The OPS-NVI consists of 16 items for observed behavior, classified into four

Modeling the autistic cell: iPSCs recapitulate developmental principles of syndromic and nonsyndromic ASD.

Science.gov (United States)

Ben-Reuven, Lihi; Reiner, Orly

2016-06-01

The opportunity to model autism spectrum disorders (ASD) through generation of patient-derived induced pluripotent stem cells (iPSCs) is currently an emerging topic. Wide-scale research of altered brain circuits in syndromic ASD, including Rett Syndrome, Fragile X Syndrome, Angelman's Syndrome and sporadic Schizophrenia, was made possible through animal models. However, possibly due to species differences, and to the possible contribution of epigenetics in the pathophysiology of these diseases, animal models fail to recapitulate many aspects of ASD. With the advent of iPSCs technology, 3D cultures of patient-derived cells are being used to study complex neuronal phenotypes, including both syndromic and nonsyndromic ASD. Here, we review recent advances in using iPSCs to study various aspects of the ASD neuropathology, with emphasis on the efforts to create in vitro model systems for syndromic and nonsyndromic ASD. We summarize the main cellular activity phenotypes and aberrant genetic interaction networks that were found in iPSC-derived neurons of syndromic and nonsyndromic autistic patients. © 2016 Japanese Society of Developmental Biologists.

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

Science.gov (United States)

Ahmed, Zubair M; Smith, Tenesha N; Riazuddin, Saima; Makishima, Tomoko; Ghosh, Manju; Bokhari, Sirosh; Menon, Puthezhath S N; Deshmukh, Dilip; Griffith, Andrew J; Riazuddin, Sheikh; Friedman, Thomas B; Wilcox, Edward R

2002-06-01

Human chromosome 11 harbors two Usher type I loci, USHIB and USHIC, which encode myosin VIIA and harmonin, respectively. The USHIC locus overlaps the reported critical interval for nonsyndromic deafness locus DFNB18. We found an IVS12+5G-->C mutation in the USHIC gene, which is associated with nonsyndromic recessive deafness ( DFNB18) segregating in the original family, S-11/12. No other disease-associated mutation was found in the other 27 exons or in the intron-exon boundaries, and the IVS12+5G-->C mutation was not present in 200 representative unaffected individuals ascertained from the same area of India. An exon-trapping assay with a construct harboring IVS12+5G-->C generated wildtype spliced mRNA having exons 11 and 12 and mRNA that skipped exon 12. We conclude that mutations of USHIC can cause both Usher syndrome type IC and nonsyndromic recessive deafness DFNB18.

Genetics of syndromic and non-syndromic mitral valve prolapse.

Science.gov (United States)

Le Tourneau, Thierry; Mérot, Jean; Rimbert, Antoine; Le Scouarnec, Solena; Probst, Vincent; Le Marec, Hervé; Levine, Robert A; Schott, Jean-Jacques

2018-01-19

Mitral valve prolapse (MVP) is a common condition that affects 2%-3% of the general population. MVP is thought to include syndromic forms such as Marfan syndrome and non-syndromic MVP, which is the most frequent form. Myxomatous degeneration and fibroelastic deficiency (FED) are regarded as two different forms of non-syndromic MVP. While FED is still considered a degenerative disease associated with ageing, frequent familial clustering has been demonstrated for myxomatous MVP. Familial and genetic studies led to the recognition of reduced penetrance and large phenotypic variability, and to the identification of prodromal or atypical forms as a part of the complex spectrum of the disease. Whereas autosomal dominant mode is the common inheritance pattern, an X linked form of non-syndromic MVP was recognised initially, related to Filamin-A gene, encoding for a cytoskeleton protein involved in mechanotransduction. This identification allowed a comprehensive description of a new subtype of MVP with a unique association of leaflet prolapse and paradoxical restricted motion in diastole. In autosomal dominant forms, three loci have been mapped to chromosomes 16p11-p12, 11p15.4 and 13q31-32. Although deciphering the underlying genetic defects is still a work in progress, DCHS1 mutations have been identified (11p15.4) in typical myxomatous disease, highlighting new molecular pathways and pathophysiological mechanisms leading to the development of MVP. Finally, a large international genome-wide association study demonstrated the implication of frequent variants in MVP development and opened new directions for future research. Hence, this review focuses on phenotypic, genetic and pathophysiological aspects of MVP. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Parents' age and the risk of oral clefts

DEFF Research Database (Denmark)

Bille, C.; Skytthe, A.; Vach, W.

2005-01-01

BACKGROUND: Some malformations are clearly associated with older maternal age, but the effect of older age of the father is less certain. The aim of this study is to determine the degree to which maternal age and paternal age independently influence the risk of having a child with oral clefts....... In a joint analysis, both maternal and paternal ages were associated with the risk of cleft lip with or without cleft palate, but the contribution of each was dependent on the age of the other parent. In the analysis of cleft palate only, the effect of maternal age disappeared, leaving only paternal age...... as a risk factor. CONCLUSION: Both high maternal age and high paternal age were associated with cleft lip with or without cleft palate. Higher paternal age but not maternal age increased the risk of cleft palate only....

Mechanical cues in orofacial tissue engineering and regenerative medicine

NARCIS (Netherlands)

Brouwer, K.M.; Lundvig, D.M.S.; Middelkoop, E.; Wagener, F.A.D.T.; Von den Hoff, J.W.

2015-01-01

Cleft lip and palate patients suffer from functional, aesthetical, and psychosocial problems due to suboptimal regeneration of skin, mucosa, and skeletal muscle after restorative cleft surgery. The field of tissue engineering and regenerative medicine (TE/RM) aims to restore the normal physiology of

Congenital heart defects in children with oral clefts

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Nahvi H.

2007-09-01

Full Text Available   Background: Oral clefts are among the most common congenital anomalies. Infants with oral clefts often have other associated congenital defects, especially congenital heart defects. The reported incidences and the types of associated malformations and congenital heart defects vary between different studies. The purpose of this study was to assess the incidence of associated congenital heart defects in children with oral clefts. Methods: All infants with cleft lip and palate referred to the Children's Medical Center and Bahramy; the teaching Hospitals of the Tehran University of Medical Sciences from 1991 to 2005 were prospectively enrolled in this study group. All patients were examined and noted by an academic cleft team contain; a pediatrician and a pediatric surgeon, and received cardiac consultation and echocardiography by a pediatric cardiologist. non cardiac associated anomalies, still born and patients without echocardiography were excluded from the study.  Data including age, gender, exposure to contagions and high risk elements ,consanguinity and familial history of oral cleft, type of oral cleft, results of cardiac consultation and echocardiography and associated cardiac anomalies were cumulated and analyzed by SSPS version 13.5Results: Among the 284 infants with oral clefts, 162 were male (57% and 122 were female (43%. Seventy-nine patients (27.8% had cleft lip, 84 (29.5% had cleft palate and 121 (42.6% had both cleft lip and palate. Of all the patients, 21.1% had congenital heart defects. the most common type Of these congenital heart defects(28.3%  was atrial septal defect.Conclusions: For patients with cleft lip and palate, we recommend preoperative cardiac consultation, careful examination and routine echocardiography for associated cardiac anomalies, as well as appropriate management and prophylactic antibiotic therapy for those with associated congenital heart anomaly.