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Sample records for cleft mutated reverse

  1. Incorporation of deoxyribonucleotides and ribonucleotides by a dNTP-binding cleft mutated reverse transcriptase in hepatitis B virus core particles

    International Nuclear Information System (INIS)

    Kim, Hee-Young; Kim, Hye-Young; Jung, Jaesung; Park, Sun; Shin, Ho-Joon; Kim, Kyongmin

    2008-01-01

    Our recent observation that hepatitis B virus (HBV) DNA polymerase (P) might initiate minus-strand DNA synthesis without primer [Kim et al., (2004) Virology 322, 22-30], raised a possibility that HBV P protein may have the potential to function as an RNA polymerase. Thus, we mutated Phe 436, a bulky amino acid with aromatic side chain, at the putative dNTP-binding cleft in reverse transcriptase (RT) domain of P protein to smaller amino acids (Gly or Val), and examined RNA polymerase activity. HBV core particles containing RT dNTP-binding cleft mutant P protein were able to incorporate 32 P-ribonucleotides, but not HBV core particles containing wild type (wt), priming-deficient mutant, or RT-deficient mutant P proteins. Since all the experiments were conducted with core particles isolated from transfected cells, our results indicate that the HBV RT mutant core particles containing RT dNTP-binding cleft mutant P protein could incorporate both deoxyribonucleotides and ribonucleotides in replicating systems

  2. PVR/CD155 Ala67Thr Mutation and Cleft Lip/Palate.

    Science.gov (United States)

    Vieira, Alexandre R; Letra, Ariadne; Silva, Renato M; Granjeiro, Jose M; Shimizu, Takehiko; Poletta, Fernando A; Mereb, Juan C; Castilla, Eduardo E; Orioli, Iêda M

    2018-03-01

    The 19q13 locus has been linked to cleft lip and palate by our group and independently by others. Here we fine mapped the region in an attempt to identify an etiological variant that can explain cleft lip and palate occurrence. A total of 2739 individuals born with cleft lip and palate, related to individuals born with cleft lip and palate, and unrelated were studied. We used linkage and association approaches to fine map the interval between D19S714 and D19S433 and genotypes were defined by the use of TaqMan chemistry. We confirmed our previous findings that markers in PVR/CD155 are associated with cleft lip and palate. We studied the mutation Ala67Thr further and calculated its penetrance. We also attempted to detect PVR/CD155 expression in human whole saliva. Our results showed that markers in PVR/CD155 are associated with cleft lip and palate and the penetrance of the Ala67Thr is very low (between 1% and 5%). We could not detect PVR/CD155 expression in adult human whole saliva and PVR/CD155 possibly interacts with maternal infection to predispose children to cleft lip only.

  3. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Slaney, S.F.; Oldridge, M.; Wilkie, A.O.M. [Univ. of Oxford (United Kingdom)] [and others

    1996-05-01

    Apert syndrome is a distinctive human malformation characterized by craniosynostosis and severe syndactyly of the hands and feet. It is caused by specific missense substitutions involving adjacent amino acids (Ser252Trp or Pro253Arg) in the linker between the second and third extracellular immunoglobulin domains of fibroblast growth factor receptor 2 (FGFR2). We have developed a simple PCR assay for these mutations in genomic DNA, based on the creation of novel SfiI and BstUI restriction sites. Analysis of DNA from 70 unrelated patients with Apert syndrome showed that 45 had the Ser252Trp mutation and 25 had the Pro253Arg mutation. Phenotypic differences between these two groups of patients were investigated. Significant differences were found for severity of syndactyly and presence of cleft palate. The syndactyly was more severe with the Pro253Arg mutation, for both the hands and the feet. In contrast, cleft palate was significantly more common in the Ser252Trp patients. No convincing differences were found in the prevalence of other malformations associated with Apert syndrome. We conclude that, although the phenotype attributable to the two mutations is very similar, there are subtle differences. The opposite trends for severity of syndactyly and cleft palate in relation to the two mutations may relate to the varying patterns of temporal and tissue-specific expression of different fibroblast growth factors, the ligands for FGFR2. 54 refs., 5 figs., 3 tabs.

  4. 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...

  5. Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate

    Directory of Open Access Journals (Sweden)

    Hao Xu

    2015-01-01

    Full Text Available Kallmann syndrome (KS is characterized by isolated hypogonadotropic hypogonadism (IHH with anosmia and is sometimes associated with cleft lip/palate (CLP. In order to describe the clinical features, genetic etiology, and treatment outcome of KS males with CLP, we performed genetic screening for 15 known causal IHH genes (KAL1, FGFR1, NELF, FGF8, CHD7, WDR11, SEMA3A, KISS1R, KISS1, PROKR2, PROK2, TAC3, TACR3, GNRH1, and GNRHR in four KS with CLP patients and six IHH patients without CLP. Two novel heterozygous missense mutations in FGFR1, (NM_001174066: c.776G>A (p.G259E and (NM_001174066: c.358C>T (p.R120C, were identified in a 23-year-old KS male with cleft lip and an 18-year-old KS patient with cleft lip and palate, dental agenesis, and high arched palate, respectively. These two mutations were not presented in their healthy parents and 200 normal controls. One novel heterozygous missense mutation in KISS1R, (NM_032551: c.587C>A (p.P196H, was identified in an 18-year-old KS male with cleft lip and dental agenesis who developed sperm after being treated with gonadotropin. This mutation was also presented in his healthy father and grandfather. These results have implications for the diagnosis, genetic counseling, and treatment of KS and CLP males with mutations in FGFR1 gene.

  6. Telomerase reverse transcriptase promoter mutations in bladder cancer

    DEFF Research Database (Denmark)

    Allory, Yves; Beukers, Willemien; Sagrera, Ana

    2014-01-01

    for detection of recurrences in urine in patients with urothelial bladder cancer (UBC). DESIGN, SETTING, AND PARTICIPANTS: A set of 111 UBCs of different stages was used to assess TERT promoter mutations by Sanger sequencing and TERT messenger RNA (mRNA) expression by reverse transcription...... surveillance after diagnosis of non-muscle-invasive UBC (n=194), was tested using a SNaPshot assay. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Association of mutation status with age, sex, tobacco, stage, grade, fibroblast growth factor receptor 3 (FGFR3) mutation, progression-free survival, disease...... frequent among FGFR3 mutant tumors (p=0.0002). There was no association between TERT mutations and mRNA expression (p=0.3). Mutations were not associated with clinical outcome. In urine, TERT mutations had 90% specificity in subjects with hematuria but no bladder tumor, and 73% in recurrence-free UBC...

  7. Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

    Science.gov (United States)

    Mangold, Elisabeth; Böhmer, Anne C.; Ishorst, Nina; Hoebel, Ann-Kathrin; Gültepe, Pinar; Schuenke, Hannah; Klamt, Johanna; Hofmann, Andrea; Gölz, Lina; Raff, Ruth; Tessmann, Peter; Nowak, Stefanie; Reutter, Heiko; Hemprich, Alexander; Kreusch, Thomas; Kramer, Franz-Josef; Braumann, Bert; Reich, Rudolf; Schmidt, Gül; Jäger, Andreas; Reiter, Rudolf; Brosch, Sibylle; Stavusis, Janis; Ishida, Miho; Seselgyte, Rimante; Moore, Gudrun E.; Nöthen, Markus M.; Borck, Guntram; Aldhorae, Khalid A.; Lace, Baiba; Stanier, Philip; Knapp, Michael; Ludwig, Kerstin U.

    2016-01-01

    Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individuals have CL/P or CPO, often but not always associated with lower lip pits. Recently, ∼5% of VWS-affected individuals were identified with mutations in the grainy head-like 3 gene (GRHL3). To investigate GRHL3 in nonsyndromic clefting, we sequenced its coding region in 576 Europeans with nsCL/P and 96 with nsCPO. Most strikingly, nsCPO-affected individuals had a higher minor allele frequency for rs41268753 (0.099) than control subjects (0.049; p = 1.24 × 10−2). This association was replicated in nsCPO/control cohorts from Latvia, Yemen, and the UK (pcombined = 2.63 × 10−5; ORallelic = 2.46 [95% CI 1.6–3.7]) and reached genome-wide significance in combination with imputed data from a GWAS in nsCPO triads (p = 2.73 × 10−9). Notably, rs41268753 is not associated with nsCL/P (p = 0.45). rs41268753 encodes the highly conserved p.Thr454Met (c.1361C>T) (GERP = 5.3), which prediction programs denote as deleterious, has a CADD score of 29.6, and increases protein binding capacity in silico. Sequencing also revealed four novel truncating GRHL3 mutations including two that were de novo in four families, where all nine individuals harboring mutations had nsCPO. This is important for genetic counseling: given that VWS is rare compared to nsCPO, our data suggest that dominant GRHL3 mutations are more likely to cause nonsyndromic than syndromic CPO. Thus, with rare dominant mutations and a common risk variant in the coding region, we have identified an important contribution for GRHL3 in nsCPO. PMID:27018475

  8. 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 ...

  9. Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.

    Science.gov (United States)

    Prontera, Paolo; Garelli, Emanuela; Isidori, Ilenia; Mencarelli, Amedea; Carando, Adriana; Silengo, Margherita Cirillo; Donti, Emilio

    2011-11-01

    Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by TP63 mutations. Its clinical phenotype is similar to ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) and limb-mammary syndrome (LMS), and differs from these disorders mainly by the absence of cleft lip and/or palate. We report on a 39-year-old patient who was found to be heterozygous for a c.401G > T (p.Gly134Val) de novo mutation of TP63. This patient had the ADULT phenotype associated with cleft palate. Our findings, rather than extend the clinical spectrum of ADULT syndrome, suggest that cleft palate can no longer be considered an element for differential diagnosis for ADULT, EEC, and LMS. Our data, added to other reports on overlapping phenotypes, support the combining of these three phenotypes into a unique entity that we propose to call "ELA syndrome," which is an acronym of ectrodactyly-ectodermal dysplasia-cleft lip and palate, limb-mammary, and ADULT syndromes. Copyright © 2011 Wiley Periodicals, Inc.

  10. Observation of Cleft Palate in an Individual with SOX11 Mutation: Indication of a Role for SOX11 in Human Palatogenesis.

    Science.gov (United States)

    Khan, Umair; Study, Ddd; Baker, Eleanor; Clayton-Smith, Jill

    2018-03-01

    Point mutations and deletions within the SOX11 gene have recently been described in individuals with a rare variant of Coffin-Siris syndrome, OMIM 615866, an intellectual disability syndrome with associated features of nail hypoplasia, microcephaly, and characteristic facial features including a wide mouth and prominent lips. We describe a further patient with a mutation in SOX11 and phenotype resembling mild Coffin-Siris syndrome. This boy had a cleft palate, a feature not previously seen in other patients with SOX11 mutations. We discuss This adds to the current evidence that SOX11 is a gene involved in palatogenesis.

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

    Directory of Open Access Journals (Sweden)

    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.

  12. A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.

    Science.gov (United States)

    Kato, Koji; Miya, Fuyuki; Hori, Ikumi; Ieda, Daisuke; Ohashi, Kei; Negishi, Yutaka; Hattori, Ayako; Okamoto, Nobuhiko; Kato, Mitsuhiro; Tsunoda, Tatsuhiko; Yamasaki, Mami; Kanemura, Yonehiro; Kosaki, Kenjiro; Saitoh, Shinji

    2017-09-01

    We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HECT domain of NEDD4L have been reported in patients with a neurodevelopmental disorder along with similar brain malformations. All patients reported with NEDD4L HECT domain mutations showed periventricular nodular heterotopia, and most had seizures, cortex anomalies, cleft palate and syndactyly. The unique constellation of clinical features in patients with NEDD4L mutations might help clinically distinguish them from patients with other genetic mutations including FLNA, which is a well-known causative gene of periventricular nodular heterotopia. Although mutations in the HECT domain of NEDD4L that lead to AKT-mTOR pathway deregulation in forced expression system were reported, our western blot analysis did not show an increased level of AKT-mTOR activity in lymphoblastoid cell lines (LCLs) derived from the patient. In contrast to the forced overexpression system, AKT-mTOR pathway deregulation in LCLs derived from our patient seems to be subtle.

  13. From bad to good: Fitness reversals and the ascent of deleterious mutations.

    Directory of Open Access Journals (Sweden)

    Matthew C Cowperthwaite

    2006-10-01

    Full Text Available Deleterious mutations are considered a major impediment to adaptation, and there are straightforward expectations for the rate at which they accumulate as a function of population size and mutation rate. In a simulation model of an evolving population of asexually replicating RNA molecules, initially deleterious mutations accumulated at rates nearly equal to that of initially beneficial mutations, without impeding evolutionary progress. As the mutation rate was increased within a moderate range, deleterious mutation accumulation and mean fitness improvement both increased. The fixation rates were higher than predicted by many population-genetic models. This seemingly paradoxical result was resolved in part by the observation that, during the time to fixation, the selection coefficient (s of initially deleterious mutations reversed to confer a selective advantage. Significantly, more than half of the fixations of initially deleterious mutations involved fitness reversals. These fitness reversals had a substantial effect on the total fitness of the genome and thus contributed to its success in the population. Despite the relative importance of fitness reversals, however, the probabilities of fixation for both initially beneficial and initially deleterious mutations were exceedingly small (on the order of 10(-5 of all mutations.

  14. Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate ...

    Indian Academy of Sciences (India)

    Jiewen Dai

    2018-06-06

    Jun 6, 2018 ... sense, frame-shift, splice-site, or missense mutation (Pauws et al. 2013). Except for ... 0.4.0, http:// · frodo.wi.mit.edu/) was used for primer design. The poly- ..... Sternberg M. J. 2015 The Phyre2 web portal for protein modeling ...

  15. Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

    Science.gov (United States)

    Amos, J S; Huang, L; Thevenon, J; Kariminedjad, A; Beaulieu, C L; Masurel-Paulet, A; Najmabadi, H; Fattahi, Z; Beheshtian, M; Tonekaboni, S H; Tang, S; Helbig, K L; Alcaraz, W; Rivière, J-B; Faivre, L; Innes, A M; Lebel, R R; Boycott, K M

    2017-01-01

    THOC6 is a part of the THO complex, which is involved in coordinating mRNA processing with export. The THO complex interacts with additional components to form the larger TREX complex (transcription export complex). Previously, a homozygous missense mutation in THOC6 in the Hutterite population was reported in association with syndromic intellectual disability. Using exome sequencing, we identified three unrelated patients with bi-allelic mutations in THOC6 associated with intellectual disability and additional clinical features. Two of the patients were compound heterozygous for a stop and a missense mutation, and the third was homozygous for a missense mutation; the missense mutations were predicted to be pathogenic by in silico analysis and modeling. Clinical features of the three newly identified patients and those previously reported are reviewed; intellectual disability is moderate to severe, and malformations are variable including renal and heart defects, cleft palate, microcephaly, and corpus callosum dysgenesis. Facial features are variable and include tall forehead, short upslanting palpebral fissures +/- deep set eyes, and a long nose with overhanging columella. These subtle facial features render the diagnosis difficult to make in isolation with certainty. Our results expand the mutational and clinical spectrum of this rare disease, confirm that THOC6 is an intellectual disability causing gene, while providing insight into the importance of the THO complex in neurodevelopment. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  16. Reversible optic neuropathy with OPA1 exon 5b mutation

    DEFF Research Database (Denmark)

    Cornille, K.; Milea, D.; Amati-Bonneau, P.

    2008-01-01

    A new c.740G>A (R247H) mutation in OPA1 alternate spliced exon 5b was found in a patient presenting with bilateral optic neuropathy followed by partial, spontaneous visual recovery. R247H fibroblasts from the patient and his unaffected father presented unusual highly tubular mitochondrial network......, significant increased susceptibility to apoptosis, oxidative phosphorylation uncoupling, and altered OPA1 protein profile, supporting the pathogenicity of this mutation. These results suggest that the clinical spectrum of the OPA1-associated optic neuropathies may be larger than previously described...

  17. Reversal or protection by light of the ethidium bromide induced petite mutation in yeast

    International Nuclear Information System (INIS)

    Hixon, S.C.; Burnham, A.D.; Irons, R.L.

    1979-01-01

    An intermediate in the ethidium bromide (EB) induced petite mutation pathway may be destabilized by daylight light to cause a reversion to the normal grande phenotype. Starved cells preincubated in the dark for up to 6 h with 100μg/ml EB could be reverted to grandes after one hour of light exposure, whereas similarly treated cells maintained in the dark expresse the petite mutation in more than 80 percent of the population. In addition, the production of petite mutants by EB in buffer could be prevented if cell suspensions were exposed to light immediately upon the addition of EB. Photoreversal of the EB-derived petite mutation in growing cells as less efficient presumably because the availability of an energy source caused a continuation of mutation events beyond the light revertible step to a non-reversible fixation of the mutation. Cells treated with EB in growth and reversal of the mutation. This may be due to the cold inhibition of an enzyme which comes into play beyond the light sensitive step in the mutation pathway. (orig.) [de

  18. Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations

    Science.gov (United States)

    Laitinen, Eeva-Maria; Tommiska, Johanna; Sane, Timo; Vaaralahti, Kirsi; Toppari, Jorma; Raivio, Taneli

    2012-01-01

    Background Congenital hypogonadotropic hypogonadism (HH) is a rare cause for delayed or absent puberty. These patients may recover from HH spontaneously in adulthood. To date, it is not possible to predict who will undergo HH reversal later in life. Herein we investigated whether Finnish patients with reversal of congenital hypogonadotropic hypogonadism (HH) have common phenotypic or genotypic features. Methods and Findings Thirty-two male HH patients with anosmia/hyposmia (Kallmann Syndrome, KS; n = 26) or normal sense of smell (nHH; n = 6) were enrolled (age range, 18–61 yrs). The patients were clinically examined, and reversal of HH was assessed after treatment withdrawal. KAL1, FGFR1, FGF8, PROK2, PROKR2, CHD7, WDR11, GNRHR, GNRH1, KISS1R, KISS1, TAC3, TACR3, and LHβ were screened for mutations. Six HH patients (2 KS, 4 nHH) were verified to have reversal of HH. In the majority of cases, reversal occurred early in adulthood (median age, 23 yrs; range, 21–39 yrs). All had spontaneous testicular growth while on testosterone replacement therapy (TRT). One nHH subject was restarted on TRT due to a decline in serum T. Two reversal variants had a same GNRHR mutation (R262Q), which was accompanied by another GNRHR mutation (R139H or del309F). In addition, both of the KS patients had a mutation in CHD7 (p.Q51X) or FGFR1 (c.91+2T>A). Conclusions Considerable proportion of patients with HH (8% of KS probands) may recover in early adulthood. Spontaneous testicular enlargement during TRT was highly suggestive for reversal of HH. Those with the GNRHR mutation R262Q accompanied by another GNRHR mutation may be prone to reversal, although even patients with a truncating mutation in CHD7 or a splice-site mutation in FGFR1 can recover. We recommend that all adolescents and young adults with congenital HH should be informed on the possibility of reversal. PMID:22724017

  19. Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.

    Directory of Open Access Journals (Sweden)

    Eeva-Maria Laitinen

    Full Text Available BACKGROUND: Congenital hypogonadotropic hypogonadism (HH is a rare cause for delayed or absent puberty. These patients may recover from HH spontaneously in adulthood. To date, it is not possible to predict who will undergo HH reversal later in life. Herein we investigated whether Finnish patients with reversal of congenital hypogonadotropic hypogonadism (HH have common phenotypic or genotypic features. METHODS AND FINDINGS: Thirty-two male HH patients with anosmia/hyposmia (Kallmann Syndrome, KS; n = 26 or normal sense of smell (nHH; n = 6 were enrolled (age range, 18-61 yrs. The patients were clinically examined, and reversal of HH was assessed after treatment withdrawal. KAL1, FGFR1, FGF8, PROK2, PROKR2, CHD7, WDR11, GNRHR, GNRH1, KISS1R, KISS1, TAC3, TACR3, and LHβ were screened for mutations. Six HH patients (2 KS, 4 nHH were verified to have reversal of HH. In the majority of cases, reversal occurred early in adulthood (median age, 23 yrs; range, 21-39 yrs. All had spontaneous testicular growth while on testosterone replacement therapy (TRT. One nHH subject was restarted on TRT due to a decline in serum T. Two reversal variants had a same GNRHR mutation (R262Q, which was accompanied by another GNRHR mutation (R139H or del309F. In addition, both of the KS patients had a mutation in CHD7 (p.Q51X or FGFR1 (c.91+2T>A. CONCLUSIONS: Considerable proportion of patients with HH (8% of KS probands may recover in early adulthood. Spontaneous testicular enlargement during TRT was highly suggestive for reversal of HH. Those with the GNRHR mutation R262Q accompanied by another GNRHR mutation may be prone to reversal, although even patients with a truncating mutation in CHD7 or a splice-site mutation in FGFR1 can recover. We recommend that all adolescents and young adults with congenital HH should be informed on the possibility of reversal.

  20. Cleft Lip and Cleft Palate

    Science.gov (United States)

    ... 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 ...

  1. Telomerase reverse transcriptase promoter mutations in glandular lesions of the urinary bladder.

    Science.gov (United States)

    Vail, Eric; Zheng, Xiaoyong; Zhou, Ming; Yang, Ximing; Fallon, John T; Epstein, Jonathan I; Zhong, Minghao

    2015-10-01

    Glandular lesions of the urinary bladder include a broad spectrum of entities ranging from completely benign to primary and secondary malignancies. The accurate diagnosis of these lesions is both important and challenging. Recently, studies suggest that telomerase reverse transcriptase (TERT) promoter mutations could be a biomarker for urothelial carcinoma (UC). We hypothesized that these mutations can distinguish UC with glandular differentiation from nephrogenic adenoma, primary adenocarcinoma of the urinary bladder (PAUB), or secondary malignancies. Twenty-five cases of benign glandular lesions (including nephrogenic adenoma); 29 cases of UC with glandular differentiation; 10 cases of PAUB; and 10 cases each of metastatic colon cancer, prostatic carcinoma, and carcinoma from Mullerian origin were collected. Slides were reviewed and selected to make sure the lesion was at least 10% to 20% of all tissue. Macrodissection was performed in some of cases, and genomic DNA was extracted from the tissue. Telomerase reverse transcriptase promoter mutations were determined by standard polymerase chain reaction sequencing. Twenty-one cases (72%) of UC with glandular differentiation were positive for TERT promoter mutations. However, none of the remaining cases (total 65 cases of benign lesions, PAUB, and metastatic carcinomas) was positive for TERT promoter mutation. Telomerase reverse transcriptase promoter mutations were highly associated with UC including UC with glandular differentiation but not other glandular lesions of bladder. Therefore, in conjunction with morphologic features, Immunohistochemistry stain profile, and clinical information, TERT promoter mutations could distinguish UC with glandular differentiation from other bladder glandular lesions. In addition, lack of TERT promoter mutations in primary adenocarcinoma of bladder suggests that this entity may have different origin or carcinogenesis from those of UC. Published by Elsevier Inc.

  2. Anti-HBV treatment induces novel reverse transcriptase mutations with reflective effect on HBV S antigen

    NARCIS (Netherlands)

    Cento, Valeria; van Hemert, Formijn; Neumann-Fraune, Maria; Mirabelli, Carmen; Di Maio, Velia-Chiara; Salpini, Romina; Bertoli, Ada; Micheli, Valeria; Gubertini, Guido; Romano, Sara; Visca, Michela; de Sanctis, Giuseppe-Maria; Berkhout, Ben; Marino, Nicoletta; Mazzotta, Francesco; Cappiello, Giuseppina; Spanò, Alberto; Sarrecchia, Cesare; Ceccherini-Silberstein, Francesca; Andreoni, Massimo; Angelico, Mario; Verheyen, Jens; Perno, Carlo Federico; Svicher, Valentina

    2013-01-01

    The identification of novel reverse-transcriptase (RT) drug-resistance mutations is critical in predicting the probability of success to anti-HBV treatment. Furthermore, due to HBV-RT/HBsAg gene-overlap, they can have an impact on HBsAg-detection and quantification. 356 full-length HBV-RT sequences

  3. Structure-based methods to predict mutational resistance to diarylpyrimidine non-nucleoside reverse transcriptase inhibitors.

    Science.gov (United States)

    Azeem, Syeda Maryam; Muwonge, Alecia N; Thakkar, Nehaben; Lam, Kristina W; Frey, Kathleen M

    2018-01-01

    Resistance to non-nucleoside reverse transcriptase inhibitors (NNRTIs) is a leading cause of HIV treatment failure. Often included in antiviral therapy, NNRTIs are chemically diverse compounds that bind an allosteric pocket of enzyme target reverse transcriptase (RT). Several new NNRTIs incorporate flexibility in order to compensate for lost interactions with amino acid conferring mutations in RT. Unfortunately, even successful inhibitors such as diarylpyrimidine (DAPY) inhibitor rilpivirine are affected by mutations in RT that confer resistance. In order to aid drug design efforts, it would be efficient and cost effective to pre-evaluate NNRTI compounds in development using a structure-based computational approach. As proof of concept, we applied a residue scan and molecular dynamics strategy using RT crystal structures to predict mutations that confer resistance to DAPYs rilpivirine, etravirine, and investigational microbicide dapivirine. Our predictive values, changes in affinity and stability, are correlative with fold-resistance data for several RT mutants. Consistent with previous studies, mutation K101P is predicted to confer high-level resistance to DAPYs. These findings were further validated using structural analysis, molecular dynamics, and an enzymatic reverse transcription assay. Our results confirm that changes in affinity and stability for mutant complexes are predictive parameters of resistance as validated by experimental and clinical data. In future work, we believe that this computational approach may be useful to predict resistance mutations for inhibitors in development. Published by Elsevier Inc.

  4. Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.

    Science.gov (United States)

    Yoshida, Kazue; Hayashi, Ryota; Fujita, Hideki; Kubota, Masaya; Kondo, Mai; Shimomura, Yutaka; Niizeki, Hironori

    2015-07-01

    Cleft lip/palate-ectodermal dysplasia syndrome is a rare, autosomal recessive disorder caused by homozygous loss-of-function mutations of the poliovirus receptor-like 1 (PVRL1) gene encoding nectin-1. Nectin-1 is a cell-cell adhesion molecule that is important for the initial step in the formation of adherens junctions and tight junctions; it is expressed in keratinocytes, neurons, and the developing face and palate. Clinical manifestations comprise a unique facial appearance with cleft lip/palate, ectodermal dysplasia, cutaneous syndactyly of the fingers and/or toes, and in some cases, mental retardation. We present the first report, to our knowledge, of an Asian individual with cleft lip/palate-ectodermal dysplasia syndrome with a novel PVRL1 mutation. A 7-year-old Japanese boy, the first child of a consanguineous marriage, showed hypohidrotic ectodermal dysplasia with sparse, brittle, fine, dry hair and hypodontia, the unique facial appearance with cleft lip/palate, cutaneous syndactyly of the fingers and mild mental retardation. Scanning electron microscopic examination of the hair demonstrated pili torti and pili trianguli et canaliculi. Mutation analysis of exon 2 of PVRL1 revealed a novel homozygous nonsense mutation, c.400C>T (p.Arg134*). His parents were heterozygous for the mutant alleles. All four PVRL1 mutations identified in cleft lip/palate-ectodermal dysplasia syndrome to date, including this study, resulted in truncated proteins that lack the transmembrane domain and intracellular domain of nectin-1, which is necessary to initiate the cell-cell adhesion process. © 2015 Japanese Dermatological Association.

  5. Photoreactivation reverses ultraviolet radition induced premutagenic lesions leading to frameshift mutations in Escherichia coli

    International Nuclear Information System (INIS)

    Yamamoto, Kazuo

    1985-01-01

    The effect of photoreactivation of the ultraviolet radiation induced reversion of a trpE9777 frameshift mutation was studied in a uvr A6 derivative of Escherichia coli K12. Two different photoreactivation treatments were used, one providing a single flash of photoreactivating light and another providing 10 min of light from fluorescent lamps. The reversion frequency of the trpE9777 frameshift mutation was strongly reduced when subsueqently exposed to visible light. The dose modification factor (the ratio of equally effective doses), for cells challenged with single-flash photoreactivation, for survival and induction of reversion to Trp + was 3.6 and 3.4, respectively. UV induction of RecA protein synthesis was not reversed by a single flash of photoreactivation. The dose modification factor for 10 min of fluorescent lamp photoreactivation for survival and for induction of reversion to Trp + was 6.5 and 6.3, respectively. The dose modification factor for 10 min of photoreactivation for induction of RecA protein was 1.7-2.5. Photoreactivation decreased the reversion of trpE9777 and increased survival to the same extent. We concluded that cyclobutyl pyrimidine dimers are the premutagenic lesions of UV mutagenesis of the trpE9777 allele in a uvr A6 background. (orig.)

  6. New prognostic factor telomerase reverse transcriptase promotor mutation presents without MR imaging biomarkers in primary glioblastoma

    Energy Technology Data Exchange (ETDEWEB)

    Ersoy, Tunc F.; Simon, Matthias [University Hospital Bonn, Department of Neurosurgery and Stereotaxy, Bonn (Germany); Ev. Krankenhaus Bielefeld, Department of Neurosurgery, Bielefeld (Germany); Keil, Vera C.; Hadizadeh, Dariusch R.; Schild, Hans H. [University Hospital Bonn, Department of Radiology, Bonn (Germany); Gielen, Gerrit H.; Waha, Andreas [University Hospital Bonn, Institute of Neuropathology, Bonn (Germany); Fimmers, Rolf [IMBIE, University Hospital Bonn, Bonn (Germany); Heidenreich, Barbara; Kumar, Rajiv [DFKZ, Department of Molecular Genetic Epidemiology, Heidelberg (Germany)

    2017-12-15

    Magnetic resonance (MR) imaging biomarkers can assist in the non-invasive assessment of the genetic status in glioblastomas (GBMs). Telomerase reverse transcriptase (TERT) promoter mutations are associated with a negative prognosis. This study was performed to identify MR imaging biomarkers to forecast the TERT mutation status. Pre-operative MRIs of 64/67 genetically confirmed primary GBM patients (51/67 TERT-mutated with rs2853669 polymorphism) were analyzed according to Visually AcceSAble Rembrandt Images (VASARI) (https: //wiki.cancerimagingarchive.net/display/Public/VASARI+Research+Project) imaging criteria by three radiological raters. TERT mutation and O{sup 6}-methylguanine-DNA methyltransferase (MGMT) hypermethylation data were obtained through direct and pyrosequencing as described in a previous study. Clinical data were derived from a prospectively maintained electronic database. Associations of potential imaging biomarkers and genetic status were assessed by Fisher and Mann-Whitney U tests and stepwise linear regression. No imaging biomarkers could be identified to predict TERT mutational status (alone or in conjunction with TERT promoter polymorphism rs2853669 AA-allele). TERT promoter mutations were more common in patients with tumor-associated seizures as first symptom (26/30 vs. 25/37, p = 0.07); these showed significantly smaller tumors [13.1 (9.0-19.0) vs. 24.0 (16.6-37.5) all cm{sup 3}; p = 0.007] and prolonged median overall survival [17.0 (11.5-28.0) vs. 9.0 (4.0-12.0) all months; p = 0.02]. TERT-mutated GBMs were underrepresented in the extended angularis region (p = 0.03), whereas MGMT-methylated GBMs were overrepresented in the corpus callosum (p = 0.03) and underrepresented temporomesially (p = 0.01). Imaging biomarkers for prediction of TERT mutation status remain weak and cannot be derived from the VASARI protocol. Tumor-associated seizures are less common in TERT mutated glioblastomas. (orig.)

  7. The sequence spectrum of frameshift reversions obtained with a novel adaptive mutation assay in Saccharomyces cerevisiae

    Directory of Open Access Journals (Sweden)

    Erich Heidenreich

    2016-12-01

    Full Text Available Research on the mechanisms of adaptive mutagenesis in resting, i.e. non-replicating cells relies on appropriate mutation assays. Here we provide a novel procedure for the detection of frameshift-reverting mutations in yeast. Proliferation of non-reverted cells in this assay is suppressed by the lack of a fermentable carbon source. The test allele was constructed in a way that the reversions mimic microsatellite instability, a condition often found in cancer cells. We show the cell numbers during these starvation conditions and provide a DNA sequence spectrum of a representative set of revertants. The data in this article support the publication "Glucose starvation as a selective tool for the study of adaptive mutations in Saccharomyces cerevisiae" (Heidenreich and Steinboeck, 2016 [1].

  8. Prediction of mutational tolerance in HIV-1 protease and reverse transcriptase using flexible backbone protein design.

    Directory of Open Access Journals (Sweden)

    Elisabeth Humphris-Narayanan

    Full Text Available Predicting which mutations proteins tolerate while maintaining their structure and function has important applications for modeling fundamental properties of proteins and their evolution; it also drives progress in protein design. Here we develop a computational model to predict the tolerated sequence space of HIV-1 protease reachable by single mutations. We assess the model by comparison to the observed variability in more than 50,000 HIV-1 protease sequences, one of the most comprehensive datasets on tolerated sequence space. We then extend the model to a second protein, reverse transcriptase. The model integrates multiple structural and functional constraints acting on a protein and uses ensembles of protein conformations. We find the model correctly captures a considerable fraction of protease and reverse-transcriptase mutational tolerance and shows comparable accuracy using either experimentally determined or computationally generated structural ensembles. Predictions of tolerated sequence space afforded by the model provide insights into stability-function tradeoffs in the emergence of resistance mutations and into strengths and limitations of the computational model.

  9. Facts about Cleft Lip and Cleft Palate

    Science.gov (United States)

    ... 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 ...

  10. Preclinical test: bacterial reverse mutation test for {sup 18}F-fluorocholine produced in CDTN

    Energy Technology Data Exchange (ETDEWEB)

    Mendes, Bruno M.; Bispo, Ana Carolina A.; Campos, Danielle C.; Silva, Juliana B., E-mail: bmm@cdtn.br, E-mail: acab@cdtn.br, E-mail: dcc@cdtn.br, E-mail: silvajb@cdtn.b [Centro de Desenvolvimento da Tecnologia Nuclear (CDTN/CNEN-MG), Belo Horizonte, MG (Brazil)

    2013-07-01

    The choline labeled with fluorine-18 (18FCH) is being considered as a great importance radiopharmaceutical due to its effective detection of many type of malignant neoplasm. The research related to {sup 18}F-fluorocholine synthesis in CDTN was initiated in 2010. In order to obtain clinical research approval, as well as to register {sup 18}FCH for marketing, safety and efficacy preclinical testing are required. The present work evaluated the {sup 18}FCH genotoxic potential through the bacterial reverse mutation test (Ames test) using Salmonella typhimurium TA-98, TA-100, TA-1535 and TA-1537 strains and Escherichia coli WP2 uvrA strain. The reverse mutation test in bacteria for fluorcolina was conducted in two stages. Initially the method was applied to 'cold' fluorocholine molecule (19FCH). Subsequently, the decayed product of {sup 18}FCH synthesis was evaluated. The first step was performed in order to examine the FCH molecule mutagenicity. The second was carried out to determine the mutagenic potential of final product. All strains were tested in triplicate for each exposure concentration, in the presence and absence of metabolic activation (S-9 mix - 10%). There were no statistically significant increases in revertant colonies rate for any strains tested after their exposure to decayed {sup 18}FCH or {sup 19}FCH. The number of revertant colonies in positive controls was significantly higher than that observed in significant increases in revertant colonies rate for any strains tested after their exposure to decayed {sup 18}FCH or {sup 19}FCH. The number of revertant colonies in positive controls was significantly higher than that observed in negative controls. Based on results of this assay, {sup 18}FCH and {sup 19}FCH, at tested doses, were found to be non-mutagenic in bacterial reverse mutation test. (author)

  11. Preclinical test: bacterial reverse mutation test for 18F-fluorocholine produced in CDTN

    International Nuclear Information System (INIS)

    Mendes, Bruno M.; Bispo, Ana Carolina A.; Campos, Danielle C.; Silva, Juliana B.

    2013-01-01

    The choline labeled with fluorine-18 (18FCH) is being considered as a great importance radiopharmaceutical due to its effective detection of many type of malignant neoplasm. The research related to 18 F-fluorocholine synthesis in CDTN was initiated in 2010. In order to obtain clinical research approval, as well as to register 18 FCH for marketing, safety and efficacy preclinical testing are required. The present work evaluated the 18 FCH genotoxic potential through the bacterial reverse mutation test (Ames test) using Salmonella typhimurium TA-98, TA-100, TA-1535 and TA-1537 strains and Escherichia coli WP2 uvrA strain. The reverse mutation test in bacteria for fluorcolina was conducted in two stages. Initially the method was applied to 'cold' fluorocholine molecule (19FCH). Subsequently, the decayed product of 18 FCH synthesis was evaluated. The first step was performed in order to examine the FCH molecule mutagenicity. The second was carried out to determine the mutagenic potential of final product. All strains were tested in triplicate for each exposure concentration, in the presence and absence of metabolic activation (S-9 mix - 10%). There were no statistically significant increases in revertant colonies rate for any strains tested after their exposure to decayed 18 FCH or 19 FCH. The number of revertant colonies in positive controls was significantly higher than that observed in significant increases in revertant colonies rate for any strains tested after their exposure to decayed 18 FCH or 19 FCH. The number of revertant colonies in positive controls was significantly higher than that observed in negative controls. Based on results of this assay, 18 FCH and 19 FCH, at tested doses, were found to be non-mutagenic in bacterial reverse mutation test. (author)

  12. Submucous Clefts

    Science.gov (United States)

    ... Find Local Cleft/Craniofacial Specialists Booklets & Factsheets College Scholarships School-Age Support Resources Connections Conference View More… ... for speech problems, middle ear disease, and swallowing difficulties. However, there are some individuals with a submucous ...

  13. Development of elvitegravir resistance and linkage of integrase inhibitor mutations with protease and reverse transcriptase resistance mutations.

    Directory of Open Access Journals (Sweden)

    Mark A Winters

    Full Text Available Failure of antiretroviral regimens containing elvitegravir (EVG and raltegravir (RAL can result in the appearance of integrase inhibitor (INI drug-resistance mutations (DRMs. While several INI DRMs have been identified, the evolution of EVG DRMs and the linkage of these DRMs with protease inhibitor (PI and reverse transcriptase inhibitor (RTI DRMs have not been studied at the clonal level. We examined the development of INI DRMs in 10 patients failing EVG-containing regimens over time, and the linkage of INI DRMs with PI and RTI DRMs in these patients plus 6 RAL-treated patients. A one-step RT-nested PCR protocol was used to generate a 2.7 kB amplicon that included the PR, RT, and IN coding region, and standard cloning and sequencing techniques were used to determine DRMs in 1,277 clones (mean 21 clones per time point. Results showed all patients had multiple PI, NRTI, and/or NNRTI DRMs at baseline, but no primary INI DRM. EVG-treated patients developed from 2 to 6 strains with different primary INI DRMs as early as 2 weeks after initiation of treatment, predominantly as single mutations. The prevalence of these strains fluctuated and new strains, and/or strains with new combinations of INI DRMs, developed over time. Final failure samples (weeks 14 to 48 typically showed a dominant strain with multiple mutations or N155H alone. Single N155H or multiple mutations were also observed in RAL-treated patients at virologic failure. All patient strains showed evidence of INI DRM co-located with single or multiple PI and/or RTI DRMs on the same viral strand. Our study shows that EVG treatment can select for a number of distinct INI-resistant strains whose prevalence fluctuates over time. Continued appearance of new INI DRMs after initial INI failure suggests a potent, highly dynamic selection of INI resistant strains that is unaffected by co-location with PI and RTI DRMs.

  14. Standardized comparison of the relative impacts of HIV-1 reverse transcriptase (RT) mutations on nucleoside RT inhibitor susceptibility.

    Science.gov (United States)

    Melikian, George L; Rhee, Soo-Yon; Taylor, Jonathan; Fessel, W Jeffrey; Kaufman, David; Towner, William; Troia-Cancio, Paolo V; Zolopa, Andrew; Robbins, Gregory K; Kagan, Ron; Israelski, Dennis; Shafer, Robert W

    2012-05-01

    Determining the phenotypic impacts of reverse transcriptase (RT) mutations on individual nucleoside RT inhibitors (NRTIs) has remained a statistical challenge because clinical NRTI-resistant HIV-1 isolates usually contain multiple mutations, often in complex patterns, complicating the task of determining the relative contribution of each mutation to HIV drug resistance. Furthermore, the NRTIs have highly variable dynamic susceptibility ranges, making it difficult to determine the relative effect of an RT mutation on susceptibility to different NRTIs. In this study, we analyzed 1,273 genotyped HIV-1 isolates for which phenotypic results were obtained using the PhenoSense assay (Monogram, South San Francisco, CA). We used a parsimonious feature selection algorithm, LASSO, to assess the possible contributions of 177 mutations that occurred in 10 or more isolates in our data set. We then used least-squares regression to quantify the impact of each LASSO-selected mutation on each NRTI. Our study provides a comprehensive view of the most common NRTI resistance mutations. Because our results were standardized, the study provides the first analysis that quantifies the relative phenotypic effects of NRTI resistance mutations on each of the NRTIs. In addition, the study contains new findings on the relative impacts of thymidine analog mutations (TAMs) on susceptibility to abacavir and tenofovir; the impacts of several known but incompletely characterized mutations, including E40F, V75T, Y115F, and K219R; and a tentative role in reduced NRTI susceptibility for K64H, a novel NRTI resistance mutation.

  15. Cleft Lip and Palate

    Science.gov (United States)

    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 ...

  16. Quantification and analysis of reverse mutations at the hgprt locus in Chinese hamster ovary cells

    Energy Technology Data Exchange (ETDEWEB)

    Fuscoe, J.C.; O' Neill, J.P.; Machanoff, R.; Hsie, A.W.

    1982-01-01

    An assay is described for the quantification of reverse mutations at the hypoxanthine-guanine phosphoribosyltransferase (hgprt) locus in Chinese hamster ovary cells utilizing the selective agent L-azaserine (AS). Conditions are defined in terms of optimal AS concentration, cell density, and phenotypic expression time. After treatment, replicate cultures of 10/sup 6/ cells are allowed a 48-h phenotypic expression time in 100-mm plates. AS (10..mu..M) is then added directly to the growing culture and AS-resistant (AS/sup r/) cells form visible colonies. This assay is used to quantify ICR-191-, ICR-170-, and N-ethyl-N-nitrosourea-induced reversion of independently isolated HGPRT/sup -/ clones. The AS/sup r/ phenotype is characterized both physiologically and biochemically. All AS/sup r/ clones isolated are stably resistant to AS and aminopterin but sensitive to 6-thioguanine. They also have re-expressed HGPRT enzyme. In addition, several revertants are shown to contain altered HGPRT.

  17. Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients

    Directory of Open Access Journals (Sweden)

    S. Domenice

    2004-01-01

    Full Text Available In most mammals, male development is triggered by the transient expression of the SRY gene, which initiates a cascade of gene interactions ultimately leading to the formation of a testis from the indifferent fetal gonad. Mutation studies have identified several genes essential for early gonadal development. We report here a molecular study of the SRY, DAX1, SF1 and WNT4 genes, mainly involved in sexual determination, in Brazilian 46,XX and 46,XY sex-reversed patients. The group of 46,XX sex-reversed patients consisted of thirteen 46,XX true hermaphrodites and four 46,XX males, and was examined for the presence of the SRY gene and for the loss of function (inactivating mutations and deletions of DAX1 and WNT4 genes. In the second group consisting of thirty-three 46,XY sex-reversed patients we investigated the presence of inactivating mutations in the SRY and SF1 genes as well as the overexpression (duplication of the DAX1 and WNT4 genes. The SRY gene was present in two 46,XX male patients and in none of the true hermaphrodites. Only one mutation, located outside homeobox domain of the 5' region of the HMG box of SRY (S18N, was identified in a patient with 46,XY sex reversal. A novel 8-bp microdeletion of the SF1 gene was identified in a 46,XY sex-reversed patient without adrenal insufficiency. The dosage of DAX1 and WNT4 was normal in the sex-reversed patients studied. We conclude that these genes are rarely involved in the etiology of male gonadal development in sex-reversed patients, a fact suggesting the presence of other genes in the sex determination cascade.

  18. The Correction of a Secondary Bilateral Cleft Lip Nasal Deformity Using Refined Open Rhinoplasty with Reverse-U Incision, V-Y Plasty, and Selective Combination with Composite Grafting: Long-term Results

    Directory of Open Access Journals (Sweden)

    Byung Chae Cho

    2012-05-01

    Full Text Available BackgroundThis article presents long-term outcomes after correcting secondary bilateral cleft lip nasal deformities using a refined reverse-U incision and V-Y plasty or in combination with a composite graft in order to elongate the short columella.MethodsA total of forty-six patients underwent surgery between September 1996 and December 2008. The age of the patients ranged from 3 to 19 years of age. A bilateral reverse-U incision and V-Y plasty were used in 24 patients. A composite graft from the helical root was combined with a bilateral reverse-U incision in the 22 patients who possessed a severely shortened columella. The follow-up period ranged between 2 and 10 years.ResultsA total of 32 patients out of 46 were evaluated postoperatively. The average columella length was significantly improved from an average of 3.7 mm preoperatively to 8.5 mm postoperatively. The average ratio of the columella height to the alar base width was 0.18 preoperatively and 0.29 postoperatively. The postoperative basal and lateral views revealed a better shape of the nostrils and columella. The elongated columella, combined with a composite graft, presented good maintenance of the corrected position with no growth disturbance. A composite graft showed color mismatching in several patients. Twenty-six patients demonstrated no alar-columella web deformity and satisfactory symmetry of the nostrils. Four patients experienced a drooping and overhanging of the corrected alar-columella web.ConclusionsA bilateral reverse-U incision with V-Y plasty or in combination with a composite graft was effective in correcting secondary bilateral cleft lip nasal deformity.

  19. A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome

    Science.gov (United States)

    Alves, Leandro Ucela; Pardono, Eliete; Otto, Paulo A.; Mingroni Netto, Regina Célia

    2015-01-01

    Ectrodactyly – ectodermal dysplasia and cleft lip/palate (EEC) syndrome (OMIM 604292) is a rare disorder determined by mutations in the TP63 gene. Most cases of EEC syndrome are associated to mutations in the DNA binding domain (DBD) region of the p63 protein. Here we report on a three-generation Brazilian family with three individuals (mother, son and grandfather) affected by EEC syndrome, determined by a novel mutation c.1037C > G (p.Ala346Gly). The disorder in this family exhibits a broad spectrum of phenotypes: two individuals were personally examined, one presenting the complete constellation of EEC syndrome manifestations and the other presenting an intermediate phenotype; the third affected, a deceased individual not examined personally and referred to by his daughter, exhibited only the split-hand/foot malformation (SHFM). Our findings contribute to elucidate the complex phenotype-genotype correlations in EEC syndrome and other related TP63-mutation syndromes. The possibility of the mutation c.1037C > G being related both to acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome and SHFM is also raised by the findings here reported. PMID:25983622

  20. In vitro cross-resistance profile of nucleoside reverse transcriptase inhibitor (NRTI) BMS-986001 against known NRTI resistance mutations.

    Science.gov (United States)

    Li, Zhufang; Terry, Brian; Olds, William; Protack, Tricia; Deminie, Carol; Minassian, Beatrice; Nowicka-Sans, Beata; Sun, Yongnian; Dicker, Ira; Hwang, Carey; Lataillade, Max; Hanna, George J; Krystal, Mark

    2013-11-01

    BMS-986001 is a novel HIV nucleoside reverse transcriptase inhibitor (NRTI). To date, little is known about its resistance profile. In order to examine the cross-resistance profile of BMS-986001 to NRTI mutations, a replicating virus system was used to examine specific amino acid mutations known to confer resistance to various NRTIs. In addition, reverse transcriptases from 19 clinical isolates with various NRTI mutations were examined in the Monogram PhenoSense HIV assay. In the site-directed mutagenesis studies, a virus containing a K65R substitution exhibited a 0.4-fold change in 50% effective concentration (EC50) versus the wild type, while the majority of viruses with the Q151M constellation (without M184V) exhibited changes in EC50 versus wild type of 0.23- to 0.48-fold. Susceptibility to BMS-986001 was also maintained in an L74V-containing virus (0.7-fold change), while an M184V-only-containing virus induced a 2- to 3-fold decrease in susceptibility. Increasing numbers of thymidine analog mutation pattern 1 (TAM-1) pathway mutations correlated with decreases in susceptibility to BMS-986001, while viruses with TAM-2 pathway mutations exhibited a 5- to 8-fold decrease in susceptibility, regardless of the number of TAMs. A 22-fold decrease in susceptibility to BMS-986001 was observed in a site-directed mutant containing the T69 insertion complex. Common non-NRTI (NNRTI) mutations had little impact on susceptibility to BMS-986001. The results from the site-directed mutants correlated well with the more complicated genotypes found in NRTI-resistant clinical isolates. Data from clinical studies are needed to determine the clinically relevant resistance cutoff values for BMS-986001.

  1. Association of telomerase reverse transcriptase promoter mutations with clinicopathological features and prognosis of thyroid cancer: a meta-analysis

    Directory of Open Access Journals (Sweden)

    Su X

    2016-11-01

    Full Text Available Xingyun Su,1 Xiaoxia Jiang,1 Weibin Wang,1 Haiyong Wang,1 Xin Xu,2 Aihui Lin,1 Xiaodong Teng,3 Huiling Wu,4 Lisong Teng1 1Department of Surgical Oncology, 2Department of Medical Oncology, 3Department of Pathology, 4Department of Plastic Surgery, First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, People’s Republic of China Abstract: The clinicopathological and prognostic significance of telomerase reverse transcriptase (TERT promoter mutations have been widely investigated in thyroid cancer; however, the results are still discrepant. Systematic searches were performed in PubMed, Web of Science, Scopus, Ovid, and the Cochran Library databases for relevant articles prior to April 2016. Mutation rates were synthesized by R statistical software. The odds ratio or standardized mean difference with 95% confidence interval was pooled by Stata. A total of 22 studies with 4,907 cases were included in this meta-analysis. TERT promoter mutations tended to present in aggressive histological types including poorly differentiated thyroid cancer (33.37%, anaplastic thyroid cancer (38.69%, and tall-cell variant papillary thyroid cancer (30.23%. These promoter mutations were likely to exist in older patients and males and were well associated with larger tumor size, extrathyroidal extension, vascular invasion, lymph node metastasis, distant metastasis, advanced tumor stage, disease recurrence/persistence, and mortality. In addition, TERT promoter mutations (especially C228T tended to coexist with BRAFV600E mutation, which indicated more aggressive tumor behavior. Therefore, TERT promoter mutations may be promising biomarkers for early diagnosis, risk stratification, prognostic prediction, and management of thyroid cancer. Keywords: TERT promoter mutations, thyroid cancer, clinicopathological features, prognosis, BRAFV600E mutation

  2. Epiphysical clefts

    International Nuclear Information System (INIS)

    Brent Harrison, R.; Keats, T.E.

    1980-01-01

    Defects or clefts may be seen in the growing epiphysis and are usually observed just before puberty. The basal epiphysis of the proximal phalanx of the great toe is the most common site but similar defects have been observed in a numer of other epiphyseso At least some of these defects develop within a single normal appearing epiphysis and are not associated with signs or symptoms suggestive of fracture. The mechanism of formation of these defects is not clear. The defects probably close spontaneously some-time around late puberty. (orig.) [de

  3. Nature of unstable insertional mutations and reversions at the cut locus of Drosophila melanogaster: Molecular mechanism for transpositional memory

    International Nuclear Information System (INIS)

    Mizrokhi, L.Yu.; Georgieva, S.G.; Obolenkova, L.A.; Priimyagi, A.F.; Gerasimova, T.I.; Il'in, Yu.V.

    1988-01-01

    A segment of the cut locus containing an mdg4 insertion as a result of ct MR and ct MRp10 mutations was cloned. Clones were obtained for the phenotypically different ct MR2 and ct MRpN10 mutants and for stable and unstable revertants. All mutations studied are associated with mdg4 insertion at an identical nucleotide sequence of the cut locus, the same site at which mdg4 is inserted at the ct 6 allele. The ct MRpN line differs from ct MR2 in that the mobile element jockey (3 kbp) is inserted in mdg4. Jockey is represented by about 1,000 copies per genome; it is homogeneous and lacks long terminal repeats (LTRs). In stable ct + reversions, mdg4 is completely excised. In unstable ct + reversions, in which there is a high degree of reverse directed transposition of mdg4 to the cut locus, an LTR of mdg4 is preserved at the site of the mutation. It is a sequence along which new copies of mdg4 or jockey-containing mdg4 are inserted into the genome. The authors discuss a molecular mechanism for transpositional memory involving homologous recombination of the remnant LTR and circular extrachromosomal copies of mdg4

  4. Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China.

    Science.gov (United States)

    Chen, L; Ding, X P; Wei, X; Li, L X

    2014-03-12

    We investigated the molecular genetic mechanism of sex reversal by exploring the relationship between mutations in the sex-determining genes SRY, SOX9, and DAX1 with genetic sex reversal disease. Mutations in the three key genes were detected by polymerase chain reaction (PCR) and sequencing after karyotype analysis. The mutations detected were then aligned with a random sample of 100 normal sequences and the NCBI sequence database in order to confirm any new mutations. Furthermore, the copy number of SOX9 was measured by fluorescence quantitative PCR. Seven of the 10 male sex reversal patients (46, XX) contained an excess copy of the SRY gene, while one of the eight female sex reversal patients (46, XY) was lacking the SRY gene. Additionally, a new mutation (T-A, Asp24Lys) was detected in one female sex reversal patient (46, XY). No other mutation was detected in the analysis of SOX9 and DAX1, with the exception of an insertion mutation (c.35377791insG) found in the testicular-specific enhancer (TESCO) sequences in an SRY-positive female sex reversal patient (46, XY). Eight of the 18 sex reversal cases (44.4%) showed obvious connections with SRY gene translocations, mutations, or deletions, which was significantly higher than that reported previously (33.3%), indicating a need to further expand the range of sample collection. Overall, these results indicated that the main mechanism of sex reversal are not associated with mutations in the coding regions of SOX9 and DAX1 or copy number variations of SOX9, which is consistent with results of previous studies.

  5. Trends of drug-resistance-associated mutations in the reverse transcriptase gene of HIV type 1 isolates from North India.

    Science.gov (United States)

    Azam, Mohd; Malik, Abida; Rizvi, Meher; Rai, Arvind

    2014-04-01

    A major cause of failure of antiretroviral therapy (ART) is the presence of drug-resistance-associated mutations in the polymerase gene of HIV-1. The paucity of data regarding potential drug resistance to reverse transcriptase inhibitors (RTIs) prompted us to carry out this study. This information will shed light on the extent of drug resistance already present in HIV strains and will give future directions in patient treatment and in drug design. Drug resistance genotyping of a partial reverse transcriptase gene was done in 103 HIV-1-infected patients, including the ART-naive and ART-experienced population. The drug resistance pattern was analyzed using the Stanford HIV-DR database, the IAS-USA mutation list and the REGA algorithm-v8.0. Subtyping was done using the REGA HIV-1 subtyping tool-v2.01. The majority of our sequences (96 %) were found to be subtype C, and four (3.8 %) were subtype A1. Significant prevalence of DR mutations (28 %) was observed in the RT gene. Major amino acid substitutions were seen at positions 41, 90, 98, 103, 106, 108, 138, 181, 184, 190, 215, and 219, which confer high/intermediate levels of resistance to most RTIs, independently or together. Our results show that there is an urgent need to tailor ART drug regimens to the individual to achieve optimum therapeutic outcome in North India.

  6. Absence of mutagenic effects of a particular Symphytum officinale L. liquid extract in the bacterial reverse mutation assay.

    Science.gov (United States)

    Benedek, Birgit; Ziegler, Andreas; Ottersbach, Peter

    2010-03-01

    Comfrey (Symphytum officinale L.) root is traditionally used for the topical treatment of contusions, strains and sprains. Besides allantoin and rosmarinic acid, which are discussed as pharmacologically active principles, the drug contains pyrrolizidine alkaloids (PAs) known for their hepatotoxic, carcinogenic and mutagenic properties. The topical herbal medicinal products Kytta-Salbe f and Kytta-Plasma f contain a PA-free liquid extract from comfrey root as active substance. The aim of this study was to demonstrate the absence of genotoxic effects of this special extract in the bacterial reverse mutation assay (Ames test). Briefly, comfrey root liquid extract was investigated for its ability to induce gene mutations in Salmonella typhimurium strains TA 98, TA 100, TA 102, TA 1535 and TA 1537 with and without metabolic activation using the mammalian microsomal fraction S9 mix. Reference mutagens were used to check the validity of the experiments. Comfrey root fluid extract showed no biologically relevant increases in revertant colony numbers of any of the five tester strains, neither in the presence nor in the absence of metabolic activation. In conclusion, the comfrey root fluid extract contained in Kytta-Salbe f and Kytta-Plasma f was not mutagenic in the bacterial reverse mutation assay. (c) 2009 John Wiley & Sons, Ltd.

  7. 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 ...

  8. The Correction of a Secondary Bilateral Cleft Lip Nasal Deformity Using Refined Open Rhinoplasty with Reverse-U Incision, V-Y Plasty, and Selective Combination with Composite Grafting: Long-term Results

    Directory of Open Access Journals (Sweden)

    Byung Chae Cho

    2012-05-01

    Full Text Available Background This article presents long-term outcomes after correcting secondary bilateralcleft lip nasal deformities using a refined reverse-U incision and V-Y plasty or in combinationwith a composite graft in order to elongate the short columella.Methods A total of forty-six patients underwent surgery between September 1996 andDecember 2008. The age of the patients ranged from 3 to 19 years of age. A bilateral reverse-Uincision and V-Y plasty were used in 24 patients. A composite graft from the helical rootwas combined with a bilateral reverse-U incision in the 22 patients who possessed a severelyshortened columella. The follow-up period ranged between 2 and 10 years.Results A total of 32 patients out of 46 were evaluated postoperatively. The average columellalength was significantly improved from an average of 3.7 mm preoperatively to 8.5 mmpostoperatively. The average ratio of the columella height to the alar base width was 0.18preoperatively and 0.29 postoperatively. The postoperative basal and lateral views revealed abetter shape of the nostrils and columella. The elongated columella, combined with a compositegraft, presented good maintenance of the corrected position with no growth disturbance. Acomposite graft showed color mismatching in several patients. Twenty-six patients demonstratedno alar-columella web deformity and satisfactory symmetry of the nostrils. Four patientsexperienced a drooping and overhanging of the corrected alar-columella web.Conclusions A bilateral reverse-U incision with V-Y plasty or in combination with acomposite graft was effective in correcting secondary bilateral cleft lip nasal deformity.

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

    Science.gov (United States)

    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.

  10. The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test

    Energy Technology Data Exchange (ETDEWEB)

    Gardner, R.J.; Bobrow, M.; Roberts, R.G. [St. Thomas`s Hospitals, London (United Kingdom)

    1995-08-01

    The protein truncation test (PTT) is a mutation-detection method that monitors the integrity of the open reading frame (ORF). More than 60% of cases of Duchenne muscular dystrophy (DMD) result from gross frameshifting deletions in the dystrophin gene that are detectable by multiplex PCR system. It has become apparent that virtually all of the remaining DMD mutations also disrupt the translational reading frame, making the PTT a logical next step toward a comprehensive strategy for the identification of all DMD mutations. We report here a pilot study involving 22 patients and describe the mutations characterized. These constitute 12 point mutations or small insertions/deletions and 4 gross rearrangements. We also have a remaining five patients in whom there does not appear to be mutation in the ORF. We believe that reverse-transcription-PCR/PTT is an efficient method by which to screen for small mutations in DMD patients with no deletion. 29 refs., 2 figs., 3 tabs.

  11. Zidovudine (AZT monotherapy selects for the A360V mutation in the connection domain of HIV-1 reverse transcriptase.

    Directory of Open Access Journals (Sweden)

    Jessica H Brehm

    Full Text Available We previously demonstrated in vitro that zidovudine (AZT selects for A371V in the connection domain and Q509L in ribonuclease H (RNase H domain of HIV-1 reverse transcriptase (RT which, together with the thymidine analog mutations D67N, K70R and T215F, confer greater than 100-fold AZT resistance. The goal of the current study was to determine whether AZT monotherapy in HIV-1 infected patients also selects the A371V, Q509L or other mutations in the C-terminal domains of HIV-1 RT.Full-length RT sequences in plasma obtained pre- and post-therapy were compared in 23 participants who received AZT monotherapy from the AIDS Clinical Trials Group study 175. Five of the 23 participants reached a primary study endpoint. Mutations significantly associated with AZT monotherapy included K70R (p = 0.003 and T215Y (p = 0.013 in the polymerase domain of HIV-1 RT, and A360V (p = 0.041 in the connection domain of HIV-1 RT. HIV-1 drug susceptibility assays demonstrated that A360V, either alone or in combination with thymidine analog mutations, decreased AZT susceptibility in recombinant viruses containing participant-derived full-length RT sequences or site-directed mutant RT. Biochemical studies revealed that A360V enhances the AZT-monophosphate excision activity of purified RT by significantly decreasing the frequency of secondary RNase H cleavage events that reduce the RNA/DNA duplex length and promote template/primer dissociation.The A360V mutation in the connection domain of RT was selected in HIV-infected individuals that received AZT monotherapy and contributed to AZT resistance.

  12. 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;…

  13. 40 CFR 798.5265 - The salmonella typhimurium reverse mutation assay.

    Science.gov (United States)

    2010-07-01

    ... mean number of revertant colonies per plate and standard deviation shall be presented for test chemical... revertant colonies per plate, standard deviation. (vi) Dose-response relationship, if applicable. (g... Salmonella/ mammalian-microsome mutagenicity test,” Mutation Research 31:347-364 (1975). (2) de Serres, F.J...

  14. [Optimization and assessment of a reverse hybridization system for the detection of HBV drug-resistant mutations].

    Science.gov (United States)

    Liu, Yan-chen; Huang, Ai-long; Hu, Yuan; Hu, Jie-li; Lai, Guo-qi; Zhang, Wen-lu

    2011-12-01

    To establish a detection method for HBV drug-resistant mutations related to lamivudine, adefovir and entecavir by optimization and assessment of reverse hybridization system. 26 degenerated probes covering 10 drug-resistant hotspots of 3 drugs were synthesized and immobilized on the same positively charged nylon membrane. PCR products labeled with digoxigenin were hybridized with corresponding probes. To improve the sensitivity and specificity, 4 reaction steps of reverse hybridization were optimized including the number of labeled digoxigenin, the energy intensity of UV cross-linking, hybridization and stringency wash conditions. To prove the feasibility, the specificity, sensitivity and accuracy of this system were assessed respectively. Sensitive and specific results are obtained by the optimization of the following 4 reaction steps: the primers labeled with 3 digoxigenin, energy intensity of UV cross-linking for 1500 x 0.1 mJ/cm², hybridization at 42 degrees C and stringency wash with 0.5 x SSC and 0.1% SDS solution at 44 degrees C for 30 min. In the assessment of system, the majority of probes have high specificity. The quantity of PCR product with a concentration of 10 ng/μl or above can be detected by this method. The concordant rate between reverse hybridization and direct sequencing is 93.9% in the clinical sample test. Though the specificity of several probes needs to be improved further, it is a simple, rapid and sensitive method which can detect HBV resistant mutations related to lamivudine, adefovir and entecavir simultaneously. Due to the short distance between 180 and 181, likewise 202 and 204, the sequence of the same probe covers two codon positions, and hybridization will be interfered by each other. To avoid such interference, the possible solution is that probes are designed by arranging and combining various forms of two near codons.

  15. Unilateral Cleft Hand with Cleft Foot

    Science.gov (United States)

    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

  16. Structural Insights into HIV Reverse Transcriptase Mutations Q151M and Q151M Complex That Confer Multinucleoside Drug Resistance

    Energy Technology Data Exchange (ETDEWEB)

    Das, Kalyan; Martinez, Sergio E.; Arnold, Eddy

    2017-04-10

    HIV-1 reverse transcriptase (RT) is targeted by multiple drugs. RT mutations that confer resistance to nucleoside RT inhibitors (NRTIs) emerge during clinical use. Q151M and four associated mutations, A62V, V75I, F77L, and F116Y, were detected in patients failing therapies with dideoxynucleosides (didanosine [ddI], zalcitabine [ddC]) and/or zidovudine (AZT). The cluster of the five mutations is referred to as the Q151M complex (Q151Mc), and an RT or virus containing Q151Mc exhibits resistance to multiple NRTIs. To understand the structural basis for Q151M and Q151Mc resistance, we systematically determined the crystal structures of the wild-type RT/double-stranded DNA (dsDNA)/dATP (complex I), wild-type RT/dsDNA/ddATP (complex II), Q151M RT/dsDNA/dATP (complex III), Q151Mc RT/dsDNA/dATP (complex IV), and Q151Mc RT/dsDNA/ddATP (complex V) ternary complexes. The structures revealed that the deoxyribose rings of dATP and ddATP have 3'-endo and 3'-exo conformations, respectively. The single mutation Q151M introduces conformational perturbation at the deoxynucleoside triphosphate (dNTP)-binding pocket, and the mutated pocket may exist in multiple conformations. The compensatory set of mutations in Q151Mc, particularly F116Y, restricts the side chain flexibility of M151 and helps restore the DNA polymerization efficiency of the enzyme. The altered dNTP-binding pocket in Q151Mc RT has the Q151-R72 hydrogen bond removed and has a switched conformation for the key conserved residue R72 compared to that in wild-type RT. On the basis of a modeled structure of hepatitis B virus (HBV) polymerase, the residues R72, Y116, M151, and M184 in Q151Mc HIV-1 RT are conserved in wild-type HBV polymerase as residues R41, Y89, M171, and M204, respectively; functionally, both Q151Mc HIV-1 and wild-type HBV are resistant to dideoxynucleoside analogs.

  17. The strains recommended for use in the bacterial reverse mutation test (OECD guideline 471) can be certified as non-genetically modified organisms.

    Science.gov (United States)

    Sugiyama, Kei-Ichi; Yamada, Masami; Awogi, Takumi; Hakura, Atsushi

    2016-01-01

    The bacterial reverse mutation test, commonly called Ames test, is used worldwide. In Japan, the genetically modified organisms (GMOs) are regulated under the Cartagena Domestic Law, and organisms obtained by self-cloning and/or natural occurrence would be exempted from the law case by case. The strains of Salmonella typhimurium and Escherichia coli recommended for use in the bacterial reverse mutation test (OECD guideline 471), have been considered as non-GMOs because they can be constructed by self-cloning or naturally occurring bacterial strains, or do not disturb the biological diversity. The present article explains the reasons why these tester strains should be classified as non-GMOs.

  18. Peptide bond-forming reagents HOAt and HATU are not mutagenic in the bacterial reverse mutation test.

    Science.gov (United States)

    Nicolette, John; Neft, Robin E; Vanosdol, Jessica; Murray, Joel

    2016-04-01

    The peptide bond-forming reagents 1-hydroxy-7-azabenzotriazole (HOAt, CAS 39968-33-7) and O-(7-Azabenzotriazol-1-yl)-N,N,N',N'-tetramethyluronium hexafluorophosphate (HATU, CAS 148893-10-1) either have structural alerts, unclassified features or are considered out of domain when evaluated for potential mutagenicity with in silico programs DEREK and CaseUltra. Since they are commonly used reagents in pharmaceutical drug syntheses, they may become drug substance or drug product impurities and would need to be either controlled to appropriately safe levels or tested for mutagenicity. Both reagents were tested in the bacterial reverse mutation (Ames) test at Covance, under GLP conditions, following the OECD test guideline and ICH S2(R1) recommendations and found to be negative. Our data show that HOAt and HATU-common pharmaceutical synthesis reagents-are not mutagenic, and can be treated as ordinary drug impurities. © 2016 Wiley Periodicals, Inc.

  19. Reversion of a live porcine reproductive and respiratory virus vaccine investigated by parallel mutations

    DEFF Research Database (Denmark)

    Nielsen, Henriette S.; Oleksiewicz, Martin B; Forsberg, R

    2001-01-01

    A live attenuated porcine reproductive and respiratory syndrome (PRRS) vaccine virus has been shown to revert to virulence under field conditions. In order to identify genetic virulence determinants, ORF1 from the attenuated vaccine virus and three Danish vaccine-derived field isolates was sequen......A live attenuated porcine reproductive and respiratory syndrome (PRRS) vaccine virus has been shown to revert to virulence under field conditions. In order to identify genetic virulence determinants, ORF1 from the attenuated vaccine virus and three Danish vaccine-derived field isolates...... in the vaccine virus sequence during cell-culture adaptation. Evaluation of the remaining mutations in the ORF1 sequence revealed stronger selective pressure for amino acid conservation during spread in pigs than during vaccine production. Furthermore, it was found that the selective pressure did not change...

  20. Reversion of a live porcine reproductive and respiratory syndrome virus vaccine investigated by parallel mutations

    DEFF Research Database (Denmark)

    Nielsen, Henriette S.; Oleksiewicz, M.B.; Forsberg, R.

    2001-01-01

    A live attenuated porcine reproductive and respiratory syndrome (PRRS) vaccine virus has been shown to revert to virulence under field conditions. In order to identify genetic virulence determinants, ORF1 from the attenuated vaccine virus and three Danish vaccine-derived field isolates was sequen......A live attenuated porcine reproductive and respiratory syndrome (PRRS) vaccine virus has been shown to revert to virulence under field conditions. In order to identify genetic virulence determinants, ORF1 from the attenuated vaccine virus and three Danish vaccine-derived field isolates...... in the vaccine virus sequence during cell-culture adaptation. Evaluation of the remaining mutations in the ORF1 sequence revealed stronger selective pressure for amino acid conservation during spread in pigs than during vaccine production. Furthermore, it was found that the selective pressure did not change...

  1. Profile of Mutations in the Reverse Transcriptase and Overlapping Surface Genes of Hepatitis B Virus (HBV) in Treatment-Naïve Indonesian HBV Carriers.

    Science.gov (United States)

    Yamani, Laura Navika; Yano, Yoshihiko; Utsumi, Takako; Wasityastuti, Widya; Rinonce, Hanggoro Tri; Widasari, Dewiyani Indah; Juniastuti; Lusida, Maria Inge; Soetjipto; Hayashi, Yoshitake

    2017-11-22

    Mutations in the reverse transcriptase (RT) region of the hepatitis B virus (HBV) genome are an important factor in low therapeutic effectiveness. Nonetheless, the prevalence of these mutations in HBV strains isolated previously in Indonesia has not been systematically examined. Therefore, in this study, we investigated the profile of mutations in the RT region and the associations of these mutations with amino acid changes in the surface protein in the virus of treatment-naïve Indonesian HBV carriers. Overall, 96 sequences of the full-length Indonesian HBV genomes (genotype B, n = 54; genotype C, n = 42) were retrieved from the National Center for Biotechnology Information. Naturally occurring primary and/or compensatory drug resistance mutations were found in 6/54 (11.1%) genotype B strains and in 1/42 (2.4%) genotype C strains. The potential mutations underlying resistance to a nucleos(t)ide analog and/or pretreatment mutations were more frequent in both genotypes but more frequent in genotype C strains than in genotype B strains. The A-B interdomain region in the RT gene was more frequently mutated in genotype C than in genotype B (3.51 ± 2.53 vs. 1.08 ± 1.52, P < 0.001). Knowledge about the mutational profiles of the RT gene and changes in the surface protein may help clinicians to select the most appropriate antiviral drug and vaccination or HBV immunoglobulin regimen for management of HBV infection in Indonesia.

  2. Comparative analysis of drug resistance mutations in the human immunodeficiency virus reverse transcriptase gene in patients who are non-responsive, responsive and naive to antiretroviral therapy.

    Science.gov (United States)

    Misbah, Mohammad; Roy, Gaurav; Shahid, Mudassar; Nag, Nalin; Kumar, Suresh; Husain, Mohammad

    2016-05-01

    Drug resistance mutations in the Pol gene of human immunodeficiency virus 1 (HIV-1) are one of the critical factors associated with antiretroviral therapy (ART) failure in HIV-1 patients. The issue of resistance to reverse transcriptase inhibitors (RTIs) in HIV infection has not been adequately addressed in the Indian subcontinent. We compared HIV-1 reverse transcriptase (RT) gene sequences to identify mutations present in HIV-1 patients who were ART non-responders, ART responders and drug naive. Genotypic drug resistance testing was performed by sequencing a 655-bp region of the RT gene from 102 HIV-1 patients, consisting of 30 ART-non-responding, 35 ART-responding and 37 drug-naive patients. The Stanford HIV Resistance Database (HIVDBv 6.2), IAS-USA mutation list, ANRS_09/2012 algorithm, and Rega v8.02 algorithm were used to interpret the pattern of drug resistance. The majority of the sequences (96 %) belonged to subtype C, and a few of them (3.9 %) to subtype A1. The frequency of drug resistance mutations observed in ART-non-responding, ART-responding and drug-naive patients was 40.1 %, 10.7 % and 20.58 %, respectively. It was observed that in non-responders, multiple mutations were present in the same patient, while in responders, a single mutation was found. Some of the drug-naive patients had more than one mutation. Thymidine analogue mutations (TAMs), however, were found in non-responders and naive patients but not in responders. Although drug resistance mutations were widely distributed among ART non-responders, the presence of resistance mutations in the viruses of drug-naive patients poses a big concern in the absence of a genotyping resistance test.

  3. Cleft Lip and Palate

    Science.gov (United States)

    ... 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 ...

  4. Cleft lip and palate repair

    Science.gov (United States)

    ... 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 ...

  5. Temperature-dependent sex-reversal by a transformer-2 gene-edited mutation in the spotted wing drosophila, Drosophila suzukii

    Science.gov (United States)

    Female to male sex reversal was achieved in an emerging agricultural insect pest, Drosophila suzukii, by creating a temperature-sensitive point mutation in the sex-determination gene, transformer-2 (tra-2) using CRISPR/Cas9 (clustered regularly interspaced palindromic repeats/ CRISPR-associated) hom...

  6. Patterns of Cleft Lip and Cleft Palate in Northern Pakistan

    Directory of Open Access Journals (Sweden)

    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

  7. Mutagenic and antimutagenic activities of Artemisia absinthium volatile oil by the bacterial reverse mutation assay in Salmonella typhimurium strains TA98 and TA100

    Directory of Open Access Journals (Sweden)

    Mahboubeh Taherkhani

    2014-09-01

    Full Text Available Objective: To investigate the mutagenic and antimutagenic activities of Artemisia absinthium L. (A. absinthium essential oil by the bacterial reverse mutation assay in Salmonella typhimurium (S. typhimurium strains. Methods: Water-distilled essential oil of A. absinthium collected from Ardabil, NorthWestern Iran, was investigated for mutagenic and antimutagenic activities. In present study, the mutagenic and antimutagenic activities of A. absinthium oil were investigated by the bacterial revere mutation assay in S. typhimurium TA98 and TA100 strains with and without S9 (microsomal mutagenesis assay. Results: The comparative mutagenicity effect was seen in 1.5 mg/plate by the bacterial reverse mutation assay in S. typhimurium TA98 strains, without S9 and the excellent antimutagenicity effect was seen in 1.5 mg/plate against S. typhimurium TA100, without S9. Conclusions: The mutagenicity and antimutagenicity effects of the volatile oil of A. absinthium were seen without the presence of metabolic activation.

  8. Reverse Transcriptase drug resistance mutations in HIV-1 Subtype C infected patients on ART in Karonga District, Malawi

    LENUS (Irish Health Repository)

    Bansode, Vijay B

    2011-10-13

    Abstract Background Drug resistance testing before initiation of, or during, antiretroviral therapy (ART) is not routinely performed in resource-limited settings. High levels of viral resistance circulating within the population will have impact on treatment programs by increasing the chances of transmission of resistant strains and treatment failure. Here, we investigate Drug Resistance Mutations (DRMs) from blood samples obtained at regular intervals from patients on ART (Baseline-22 months) in Karonga District, Malawi. One hundred and forty nine reverse transcriptase (RT) consensus sequences were obtained via nested PCR and automated sequencing from blood samples collected at three-month intervals from 75 HIV-1 subtype C infected individuals in the ART programme. Results Fifteen individuals showed DRMs, and in ten individuals DRMs were seen from baseline samples (reported to be ART naïve). Three individuals in whom no DRMs were observed at baseline showed the emergence of DRMs during ART exposure. Four individuals who did show DRMs at baseline showed additional DRMs at subsequent time points, while two individuals showed evidence of DRMs at baseline and either no DRMs, or different DRMs, at later timepoints. Three individuals had immune failure but none appeared to be failing clinically. Conclusion Despite the presence of DRMs to drugs included in the current regimen in some individuals, and immune failure in three, no signs of clinical failure were seen during this study. This cohort will continue to be monitored as part of the Karonga Prevention Study so that the long-term impact of these mutations can be assessed. Documenting proviral population is also important in monitoring the emergence of drug resistance as selective pressure provided by ART compromises the current plasma population, archived viruses can re-emerge

  9. Use of spontaneously mutated human DNA as competitive internal standard for nucleic acid quantification by reverse transcription-polymerase chain reaction (RT-PCR)

    International Nuclear Information System (INIS)

    Rudnicka, L.; Diaz, A.; Varga, J.; Jimenez, S.A.; Christiano, A.; Uitto, J.

    1995-01-01

    Quantification of gene expression is of increasing interest in many medical sciences. Methods based on reverse transcription-polymerase chain reactions (RT-PCRs) are timesaving and require only very small amounts of RNA. A limiting factor, however, is the significant fluctuation in the efficacy of reverse transcription as well in the polymerase chain reactions. Various external and internal standards have been suggested for correcting these fluctuations. We describe a novel way of creating an internal standard for assessing the expression of type VII collagen in human cells. The total RNA of a patient with hereditary 'epidermilysis bulosa dystrophica' associated with a homozygous T to A point mutation in type VII collagen gene was reverse transcribed and a 382bp fragment of type VII collagen cDNA containing the mutation was amplified. The mutated cDNA, unlike normal type VII collagen cDNA could be cleaved by 'Ear I' endonuclease into 244bp and 138bp fragments. Semiquantitative PCR was performed with the mutated cDNA as internal standard and the studied cDNA sample in the same tube in the presence of α 32 P-labelled dCTP. The reaction was followed by 'Ear I' digestion, electrophoresis on a polyacrylamide gel and exposure to a X-ray film. In conclusion, we describe a timesaving method for creating internal standards for semiquantitative RT-PCR. (author). 12 refs, 3 figs

  10. nr0b1 (DAX1) mutation in zebrafish causes female-to-male sex reversal through abnormal gonadal proliferation and differentiation.

    Science.gov (United States)

    Chen, Sijie; Zhang, Hefei; Wang, Fenghua; Zhang, Wei; Peng, Gang

    2016-09-15

    Sex determinations are diverse in vertebrates. Although many sex-determining genes and pathways are conserved, the mechanistic roles of these genes and pathways in the genetic sex determination are not well understood. DAX1 (encoded by the NR0B1 gene) is a vertebrate specific orphan nuclear receptor that regulates gonadal development and sexual determination. In human, duplication of the NR0B1 gene leads to male-to-female sex reversal. In mice, Nr0b1 shows both pro-testis and anti-testis functions. We generated inheritable nr0b1 mutation in the zebrafish and found the nr0b1 mutation caused homozygous mutants to develop as fertile males due to female-to-male sex reversal. The nr0b1 mutation did not increase Caspase-3 labeling nor tp53 expression in the developing gonads. Introduction of a tp53 mutation into the nr0b1 mutant did not rescue the sex-reversal phenotype. Further examination revealed reduction in cell proliferation and abnormal somatic cell differentiation in the nr0b1 mutant gonads at the undifferentiated and bi-potential ovary stages. Together, our results suggest nr0b1 regulates somatic cell differentiation and cell proliferation to ensure normal sex development in the zebrafish. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  11. Characterization of Nucleoside Reverse Transcriptase Inhibitor-Associated Mutations in the RNase H Region of HIV-1 Subtype C Infected Individuals.

    Science.gov (United States)

    Ngcapu, Sinaye; Theys, Kristof; Libin, Pieter; Marconi, Vincent C; Sunpath, Henry; Ndung'u, Thumbi; Gordon, Michelle L

    2017-11-08

    The South African national treatment programme includes nucleoside reverse transcriptase inhibitors (NRTIs) in both first and second line highly active antiretroviral therapy regimens. Mutations in the RNase H domain have been associated with resistance to NRTIs but primarily in HIV-1 subtype B studies. Here, we investigated the prevalence and association of RNase H mutations with NRTI resistance in sequences from HIV-1 subtype C infected individuals. RNase H sequences from 112 NRTI treated but virologically failing individuals and 28 antiretroviral therapy (ART)-naive individuals were generated and analysed. In addition, sequences from 359 subtype C ART-naive sequences were downloaded from Los Alamos database to give a total of 387 sequences from ART-naive individuals for the analysis. Fisher's exact test was used to identify mutations and Bayesian network learning was applied to identify novel NRTI resistance mutation pathways in RNase H domain. The mutations A435L, S468A, T470S, L484I, A508S, Q509L, L517I, Q524E and E529D were more prevalent in sequences from treatment-experienced compared to antiretroviral treatment naive individuals, however, only the E529D mutation remained significant after correction for multiple comparison. Our findings suggest a potential interaction between E529D and NRTI-treatment; however, site-directed mutagenesis is needed to understand the impact of this RNase H mutation.

  12. 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)....

  13. A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10.

    Science.gov (United States)

    Suzuki, Noriomi; Mutai, Hideki; Miya, Fuyuki; Tsunoda, Tatsuhiko; Terashima, Hiroshi; Morimoto, Noriko; Matsunaga, Tatsuo

    2018-05-23

    Waardenburg syndrome type 1 (WS1) can be distinguished from Waardenburg syndrome type 2 (WS2) by the presence of dystopia canthorum. About 96% of WS1 are due to PAX3 mutations, and SOX10 mutations have been reported in 15% of WS2. This report describes a patient with WS1 who harbored a novel SOX10 nonsense mutation (c.652G > T, p.G218*) in exon 3 which is the penultimate exon. The patient had mild prodromal neurological symptoms that were followed by severe attacks of generalized seizures associated with delayed myelination of the brain. The immature myelination recovered later and the neurological symptoms could be improved. This is the first truncating mutation in exon 3 of SOX10 that is associated with neurological symptoms in Waardenburg syndrome. Previous studies reported that the neurological symptoms that associate with WS are congenital and irreversible. These findings suggest that the reversible neurological phenotype may be associated with the nonsense mutation in exon 3 of SOX10. When patients of WS show mild prodromal neurological symptoms, the clinician should be aware of the possibility that severe attacks of generalized seizures may follow, which may be associated with the truncating mutation in exon 3 of SOX10.

  14. Cleft Lip and Palate Surgery

    Science.gov (United States)

    ... The experts in face, mouth and jaw surgery. Cleft Lip / Palate and Craniofacial Surgery This type of surgery is ... the carefully orchestrated, multiple-stage correctional program for cleft lip and palate patients. The goal is to help restore the ...

  15. Hypertelorism and orofacial clefting revisited

    DEFF Research Database (Denmark)

    Weinberg, Seth M.; Leslie, Elizabeth J.; Hecht, Jacqueline T.

    2017-01-01

    Objective: Since the 1960s, multiple studies have reported a tendency toward hypertelorism in individuals with nonsyndromic orofacial clefts (OFCs). However, the association between specific cleft types and increased interorbital distance has been inconsistent. Using threedimensional (3D) surface...

  16. Pre-existing mutations in reverse transcriptase of hepatitis B virus in treatment-naive Chinese patients with chronic hepatitis B.

    Directory of Open Access Journals (Sweden)

    Jie Xu

    Full Text Available High rate of viral replication and lacking of proofreading activity in hepatitis B virus (HBV polymerase lead to the generation of mutations in HBV virus. Mutations in the reverse transcriptase (RT region of HBV polymerase are demonstrated to be strongly associated with drug resistance during antiviral treatment. However, the presence of mutations as well as its clinical significance in treatment-naïve hepatitis patients (defined as pre-existing mutations need to be further investigated. In the present study, a total of 168 serum samples from treatment-naive chronic hepatitis B (CHB patients were collected, and the RT region of HBV polymerase was sequenced. The results showed that pre-existing mutations in the RT region of HBV polymerase were detected in 43 of 168 (25.6% treatment-naive CHB patients within which there were no well-characterized primary nucleotide analogs (NAs resistance sites. Three dominant sites at rt191, rt207 and rt226 were found mutant in 7(16.28%, 8(18.60%, and 14(32.56% samples respectively among these 43 patients. No significant correlation was found between pre-existing mutations and gender, age, HBV genotype, ALT, HBeAg or HBV DNA loads. However, patients with pre-existing RT mutations under HBeAg sero-negative status exhibited decreased HBV DNA loads, which contributed to the decreased HBV DNA loads in the total HBeAg sero-negative patients. The above investigation indicated that there was a prevalence of pre-existing mutations in RT region of HBV polymerase which might affect the serum HBV DNA level in treatment-naive CHB patients. Its effects on the occurrence of NAs resistance and the prognosis after treatment need to be further investigated.

  17. A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells.

    Science.gov (United States)

    Kuijpers, Taco W; van Leeuwen, Ester M M; Barendregt, Barbara H; Klarenbeek, Paul; aan de Kerk, Daan J; Baars, Paul A; Jansen, Machiel H; de Vries, Niek; van Lier, René A W; van der Burg, Mirjam

    2013-07-01

    Mutations in the common gamma chain (γc, CD132, encoded by the IL2RG gene) can lead to B(+)T(-)NK(-) X-linked severe combined immunodeficiency, as a consequence of unresponsiveness to γc-cytokines such as interleukins-2, -7 and -15. Hypomorphic mutations in CD132 may cause combined immunodeficiencies with a variety of clinical presentations. We analyzed peripheral blood mononuclear cells of a 6-year-old boy with normal lymphocyte counts, who suffered from recurrent pneumonia and disseminated mollusca contagiosa. Since proliferative responses of T cells and NK cells to γc -cytokines were severely impaired, we performed IL2RG gene analysis, showing a heterozygous mutation in the presence of a single X-chromosome. Interestingly, an IL2RG reversion to normal predominated in both naïve and antigen-primed CD8(+) T cells and increased over time. Only the revertant CD8(+) T cells showed normal expression of CD132 and the various CD8(+) T cell populations had a different T-cell receptor repertoire. Finally, a fraction of γδ(+) T cells and differentiated CD4(+)CD27(-) effector-memory T cells carried the reversion, whereas NK or B cells were repeatedly negative. In conclusion, in a patient with a novel IL2RG mutation, gene-reverted CD8(+) T cells accumulated over time. Our data indicate that selective outgrowth of particular T-cell subsets may occur following reversion at the level of committed T progenitor cells.

  18. Branchial Cleft Cyst

    Science.gov (United States)

    Nahata, Vaishali

    2016-01-01

    Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which was a characteristic finding of branchial cleft cyst. The aim of presenting this case is its rarity. PMID:27904209

  19. Branchial cleft cyst

    Directory of Open Access Journals (Sweden)

    Vaishali Nahata

    2016-01-01

    Full Text Available Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which was a characteristic finding of branchial cleft cyst. The aim of presenting this case is its rarity.

  20. Branchial Cleft Cyst.

    Science.gov (United States)

    Nahata, Vaishali

    2016-01-01

    Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which was a characteristic finding of branchial cleft cyst. The aim of presenting this case is its rarity.

  1. Cleft Lip and Palate

    Science.gov (United States)

    ... from surgery, coping with speech problems, or improving self-esteem. Some teens join support groups or online forums where they can talk to other people who were born with cleft lip or palate. Reviewed by: Rupal Christine Gupta, MD Date reviewed: ...

  2. Branchial cleft anomalies: CT evaluation

    Energy Technology Data Exchange (ETDEWEB)

    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.

  3. 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

  4. Tyr66 acts as a conformational switch in the closed-to-open transition of the SHP-2 N-SH2-domain phosphotyrosine-peptide binding cleft

    Directory of Open Access Journals (Sweden)

    MacKerell Alexander D

    2007-03-01

    Full Text Available Abstract Background The N-terminal SH2 domain (N-SH2 of the non-receptor tyrosine phosphatase SHP-2 is involved both in localization of SHP-2 by recognition of phosphotyrosine (pY peptides and self-inhibition of SHP-2 phosphatase activity through the formation of a protein – protein interface with the phosphatase domain. Mutations that disrupt this interface break the coupling between pY-peptide binding cleft conformation and self-inhibition, thereby increasing both SHP-2 phosphatase activity and pY-peptide binding affinity, and are associated with the congenital condition Noonan syndrome and various pediatric leukemias. To better characterize the molecular process involved in N-SH2 pY-dependent binding, we have applied explicit-solvent molecular dynamics simulations to study the closed-to-open transition of the N-SH2 pY-peptide binding cleft. Results The existence of stable conformations in the left-handed helical and the extended regions of Tyr66 φ/ψ space prevent rapid interconversion of the backbone and create a conformational switch such that Tyr66 in a left-handed helical backbone conformation results in an open cleft and in an extended backbone conformation results in a closed cleft. The stable conformations arise from deep, well-localized free-energy minima in the left-handed helical and extended regions of the Tyr66 φ/ψ map. Changing the Tyr66 backbone conformation from extended to left-handed helical induces a closed-to-open transition in the cleft, and the reverse change in backbone conformation induces the reverse, open-to-closed transition. In the open-cleft state, weak solvent-exposed interactions involving the sidechains of Tyr66, Asp40, Lys55, and Gln57 serve to anchor the Tyr66 sidechain to the surface of the protein and away from the binding cleft entrance, thereby facilitating pY-peptide access to the binding cleft. Conclusion The simulations point to a regulatory role for Tyr66 and surrounding residues in SHP-2 function

  5. Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas resveratrol treatment does not show overall beneficial effects

    DEFF Research Database (Denmark)

    Strandgren, Charlotte; Nasser, Hasina Abdul; McKenna, Tomás

    2015-01-01

    model to study the possibility of recovering from HGPS bone disease upon silencing of the HGPS mutation, and the potential benefits from treatment with resveratrol. We show that complete silencing of the transgenic expression of progerin normalized bone morphology and mineralization already after 7...... weeks. The improvements included lower frequencies of rib fractures and callus formation, an increased number of osteocytes in remodeled bone, and normalized dentinogenesis. The beneficial effects from resveratrol treatment were less significant and to a large extent similar to mice treated with sucrose...... alone. However, the reversal of the dental phenotype of overgrown and laterally displaced lower incisors in HGPS mice could be attributed to resveratrol. Our results indicate that the HGPS bone defects were reversible upon suppressed transgenic expression and suggest that treatments targeting aberrant...

  6. Psychological issues in cleft lip and cleft palate

    Directory of Open Access Journals (Sweden)

    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.

  7. A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Mohammad A. Alqahtani

    2015-01-01

    Full Text Available Congenital adrenal hyperplasia (CAH due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, precocious puberty with acne, enlarged penis, and hyperpigmentation of scrotum of genetically male infants. In the present study, we reported 3 male cases from a Saudi family who presented with penile enlargement, progressive darkness of skin, hypertension, and cardiomyopathy. The elder patient died due to heart failure and his younger brothers were treated with hydrocortisone and antihypertensive medications. Six months following treatment, cardiomyopathy disappeared with normal blood pressure and improvement in the skin pigmentation. The underlying molecular defect was investigated by PCR-sequencing analysis of all coding exons and intron-exon boundary of the CYP11B1 gene. A novel biallelic mutation c.780 G>A in exon 4 of the CYP11B1 gene was found in the patients. The mutation created a premature stop codon at amino acid 260 (p.W260∗, resulting in a truncated protein devoid of 11β-hydroxylase activity. Interestingly, a somatic mutation at the same codon (c.779 G>A, p.W260∗ was reported in a patient with papillary thyroid cancer (COSMIC database. In conclusion, we have identified a novel nonsense mutation in the CYP11B1 gene that causes classic steroid 11β-hydroxylase deficient CAH. Cardiomyopathy and cardiac failure can be reversed by early diagnosis and treatment.

  8. 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

  9. Branchial Cleft Anomalies

    Science.gov (United States)

    McPhail, Neil; Mustard, Robert A.

    1966-01-01

    The embryology, anatomy and pathology of branchial cleft anomalies are discussed and 87 cases reviewed. The most frequent anomaly was branchial cleft cyst, of which there were 77 cases. Treatment in all cases consisted of complete excision. There were five cases of external branchial sinus and five cases of complete branchial fistula. Sinograms were helpful in demonstrating these lesions. Excision presented little difficulty. No proved case of branchiogenic carcinoma has been found in the Toronto General Hospital. Five cases are described in which the original diagnosis was branchiogenic carcinoma—in four of these a primary tumour has already been found. The authors believe that the diagnosis of branchiogenic carcinoma should never be accepted until repeated examinations over a period of at least five years have failed to reveal a primary tumour. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5 PMID:5901161

  10. Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting

    DEFF Research Database (Denmark)

    Saadi, Irfan; Alkuraya, Fowzan S; Gisselbrecht, Stephen S

    2011-01-01

    Genetic mutations responsible for oblique facial clefts (ObFC), a unique class of facial malformations, are largely unknown. We show that loss-of-function mutations in SPECC1L are pathogenic for this human developmental disorder and that SPECC1L is a critical organizer of vertebrate facial morpho...

  11. Branchial Cleft Cyst

    OpenAIRE

    Nahata, Vaishali

    2016-01-01

    Branchial cleft cyst, sinuses, and fistulae are among the most commonly encountered congenital anomalies in pediatric otolaryngic practice. They can present difficulty in diagnosis and surgical management. Here, I report a case of 14-year-old boy who presented with asymptomatic, congenital swelling located just below the jawline in the lateral part of the neck. The lesion was excised surgically. Histopathology showed the cyst lined by squamous as well as columnar ciliated epithelium, which wa...

  12. Clefting in pumpkin balloons

    Science.gov (United States)

    Baginski, F.; Schur, W.

    NASA's effort to develop a large payload, high altitude, long duration balloon, the Ultra Long Duration Balloon, focuses on a pumpkin shape super-pressure design. It has been observed that a pumpkin balloon may be unable to pressurize into the desired cyclically symmetric equilibrium configuration, settling into a distorted, undesired stable state instead. Hoop stress considerations in the pumpkin design leads to choosing the lowest possible bulge radius, while robust deployment is favored by a large bulge radius. Some qualitative understanding of design aspects on undesired equilibria in pumpkin balloons has been obtained via small-scale balloon testing. Poorly deploying balloons have clefts, but most gores away from the cleft deploy uniformly. In this paper, we present models for pumpkin balloons with clefts. Long term success of the pumpkin balloon for NASA requires a thorough understanding of the phenomenon of multiple stable equilibria and means for quantitative assessment of measures that prevent their occurrence. This paper attempts to determine numerical thresholds of design parameters that distinguish between properly deploying designs and improperly deploying designs by analytically investigating designs in the vicinity of criticality. Design elements which may trigger the onset undesired equilibria and remedial measures that ensure deployment are discussed.

  13. Temperature-dependent sex-reversal by a transformer-2 gene-edited mutation in the spotted wing drosophila, Drosophila suzukii.

    Science.gov (United States)

    Li, Jianwei; Handler, Alfred M

    2017-09-28

    Female to male sex reversal was achieved in an emerging agricultural insect pest, Drosophila suzukii, by creating a temperature-sensitive point mutation in the sex-determination gene, transformer-2 (tra-2), using CRISPR/Cas9 (clustered regularly interspaced palindromic repeats/CRISPR-associated) homology-directed repair gene-editing. Ds-tra-2 ts2 mutants developed as normal fertile XX and XY adults at permissive temperatures below 20 °C, but at higher restrictive temperatures (26 to 29 °C) chromosomal XX females developed as sterile intersexuals with a predominant male phenotype, while XY males developed with normal morphology, but were sterile. The temperature-dependent function of the Ds-TRA-2 ts2 protein was also evident by the up- and down-regulation of female-specific Ds-Yolk protein 1 (Ds-Yp1) gene expression by temperature shifts during adulthood. This study confirmed the temperature-dependent function of a gene-edited mutation and provides a new method for the more general creation of conditional mutations for functional genomic analysis in insects, and other organisms. Furthermore, it provides a temperature-dependent system for creating sterile male populations useful for enhancing the efficacy of biologically-based programs, such as the sterile insect technique (SIT), to control D. suzukii and other insect pest species of agricultural and medical importance.

  14. Asyndromic Bilateral Transverse Facial Cleft

    African Journals Online (AJOL)

    2013-04-23

    of this atypical cleft is unknown although the frequency ... on Tuesday, April 23, 2013, IP: 41.132.185.55] || Click here to download free Android application for this journal ... Facial cleft remains a source of social anxiety and in the past has lead ...

  15. Genetic determinants of facial clefting

    DEFF Research Database (Denmark)

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

    2009-01-01

    BACKGROUND: 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...

  16. CLEFT PALATE. FOUNDATIONS OF SPEECH PATHOLOGY SERIES.

    Science.gov (United States)

    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…

  17. UV-induced reversion of his4 frameshift mutations in rad6, rev1, and rev3 mutants of yeast.

    Science.gov (United States)

    Lawrence, C W; O'Brien, T; Bond, J

    1984-01-01

    The UV-induced reversion of two his4 frameshift alleles was much reduced in rad6 mutants of Saccharomyces cerevisiae, an observation that is consistent with the hypothesis that RAD6 function is required for the induction of all types of genetic alteration in misrepair mutagenesis. The reversion of these his4 alleles, together with two others of the same type, was also reduced in rev1 and rev3 mutant strains; in these, however, the extent of the reduction varied considerably with test allele used, in a manner analogous to the results in these strains for base repair substitution test alleles. The general features of UV-induced frameshift and substitution mutagenesis therefore appear quite similar, indicating that they may depend on related processes. If this conclusion is correct, greater attention must be given to integrating models which account for the production of nucleotide additions and deletions into those concerning misrepair mutagenesis.

  18. First branchial cleft anomaly.

    Science.gov (United States)

    Al-Fallouji, M. A.; Butler, M. F.

    1983-01-01

    A 15-year-old girl presented with a cystic swelling since birth behind the ramus of the right mandible and diagnosed clinically as a dermoid cyst. Surgical exploration, however, showed that it was closely related to the external auditory canal, with an extension running medially behind the parotid gland and ending in the bony middle ear. The facial nerve was closely related to the deep part of the cyst. Such an anatomical position indicates that this was a first branchial cleft anomaly. Surgical excision of the cyst was performed. PMID:6622327

  19. Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1.

    Science.gov (United States)

    Kim, Ahlee; Fujimoto, Masanobu; Hwa, Vivian; Backeljauw, Philippe; Dauber, Andrew

    2018-01-01

    Cholesterol side-chain cleavage enzyme (P450scc) deficiency is a rare genetic disorder causing primary adrenal insufficiency with or without a 46,XY disorder of sexual development (DSD). Herein, we report a case of the combination of primary adrenal insufficiency, a DSD (testes with female external genitalia in a setting of a 47,XXY karyotype), and Angelman syndrome. Comprehensive genetic analyses were performed, including a single nucleotide polymorphism microarray and whole-exome sequencing. In vitro studies were performed to evaluate the pathogenicity of the novel mutation that was identified by whole-exome sequencing. The patient was found to have segmental uniparental disomy (UPD) of chromosome 15 explaining her diagnosis of Angelman syndrome. Whole-exome sequencing further revealed a novel homozygous intronic variant in CYP11A1, the gene encoding P450scc, found within the region of UPD. In vitro studies confirmed that this variant led to decreased efficiency of CYP11A1 splicing. We report the first case of the combination of 2 rare genetic disorders, Angelman syndrome, and P450scc deficiency. After 20 years of diagnostic efforts, significant advances in genetic diagnostic technology allowed us to determine that these 2 disorders originate from a unified genetic etiology, segmental UPD unmasking a novel recessive mutation in CYP11A1. © 2018 S. Karger AG, Basel.

  20. 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...

  1. 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...

  2. Argon laser photocoagulation of cyclodialysis clefts after cataract surgery

    Energy Technology Data Exchange (ETDEWEB)

    Bauer, B. [Univ. of Lund, Dept. of Ophthalmology, Lund (Sweden)

    1995-06-01

    Three patients with cyclodialysis clefts, hypotony and hypotonic retinopathy subsequent to cataract surgery were treated with argon laser photocoagulation. The hypotony was reversed in each patient and their visual acuity was normalized. Laser photocoagulation is a noninvasive treatment that can be repeated easily and safely. The complications of the treatment are minor. A hypertensive episode commonly occurs in the early postoperative period. (au) 8 refs.

  3. Overexpression of mouse TTF-2 gene causes cleft palate

    Science.gov (United States)

    Meng, Tian; Shi, Jia-Yu; Wu, Min; Wang, Yan; Li, Ling; Liu, Yan; Zheng, Qian; Huang, Lei; Shi, Bing

    2012-01-01

    In humans, mutations of the gene encoding for thyroid transcription factor-2 (TTF-2 or FOXE1) result in Bamforth syndrome. Bamforth syndrome is characterized by agenesis, cleft palate, spiky hair and choanal atresia. TTF-2 null mice (TTF-2−/−) also exhibit cleft palate, suggesting its involvement in the palatogenesis. However, the molecular pathology and genetic regulation by TTF2 remain largely unknown. In the present study, the recombinant expression vector pBROAD3-TTF-2 containing the promoter of the mouse ROSA26 gene was created to form the structural gene of mouse TTF-2 and was microinjected into the male pronuclei of fertilized ova. Sequence analysis confirmed that the TTF-2 transgenic mouse model was established successfully. The transgenic mice displayed a phenotype of cleft palate. In addition, we found that TTF-2 was highly expressed in the medial edge epithelium (MEE) from the embryonic day 12.5 (E12.5) to E14.5 in TTF-2 transgenic mice. These observations suggest that overexpression of TTF-2 during palatogenesis may contribute to formation of cleft palate. PMID:22304410

  4. Cleft deformities (lip and palate)

    African Journals Online (AJOL)

    dell

    hospital between February 2008 and February 2009, seventeen neonates presented with ..... are low necessitating very large sample sizes often limited by resources. ... Bianco-Davila F: Incidence of cleft lip and palate in northeast of Mexico.

  5. Sensitivity and specificity of a real-time reverse transcriptase polymerase chain reaction detecting feline coronavirus mutations in effusion and serum/plasma of cats to diagnose feline infectious peritonitis

    NARCIS (Netherlands)

    Felten, Sandra; Leutenegger, Christian M.; Balzer, Hans Joerg; Pantchev, Nikola; Matiasek, Kaspar; Wess, Gerhard; Egberink, Herman|info:eu-repo/dai/nl/089740890; Hartmann, Katrin

    2017-01-01

    Background: Feline coronavirus (FCoV) exists as two pathotypes, and FCoV spike gene mutations are considered responsible for the pathotypic switch in feline infectious peritonitis (FIP) pathogenesis. The aim of this study was to evaluate sensitivity and specificity of a real-time reverse

  6. 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.

  7. Secondary bone grafting for alveolar cleft in children with cleft lip or cleft lip and palate

    NARCIS (Netherlands)

    Guo, J.; Li, C.; Zhang, Q.; Wu, G.; Deacon, S.A.; Chen, J.; Hu, H.; Zou, S.; Ye, Q.

    2011-01-01

    BACKGROUND: Secondary alveolar bone grafting has been widely used to reconstruct alveolar cleft. However, there is still some controversy. OBJECTIVES: To compare the effectiveness and safety of different secondary bone grafting methods. SEARCH STRATEGY: The final electronic and handsearches were

  8. 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.

  9. 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…

  10. Development of a multiplex amplification refractory mutation system reverse transcription polymerase chain reaction assay for the differential diagnosis of Feline leukemia virus vaccine and wild strains.

    Science.gov (United States)

    Ho, Chia-Fang; Chan, Kun-Wei; Yang, Wei-Cheng; Chiang, Yu-Chung; Chung, Yang-Tsung; Kuo, James; Wang, Chi-Young

    2014-07-01

    A multiplex amplification refractory mutation system reverse transcription polymerase chain reaction (ARMS RT-PCR) was developed for the differential diagnosis of Feline leukemia virus (FeLV) vaccine and wild-type strains based on a point mutation between the vaccine strain (S) and the wild-type strain (T) located in the p27 gene. This system was further upgraded to obtain a real-time ARMS RT-PCR (ARMS qRT-PCR) with a high-resolution melt analysis (HRMA) platform. The genotyping of various strains of FeLV was determined by comparing the HRMA curves with the defined wild-type FeLV (strain TW1), and the results were expressed as a percentage confidence. The detection limits of ARMS RT-PCR and ARMS qRT-PCR combined with HRMA were 100 and 1 copies of transcribed FeLV RNA per 0.5 ml of sample, respectively. No false-positive results were obtained with 6 unrelated pathogens and 1 feline cell line. Twelve FeLV Taiwan strains were correctly identified using ARMS qRT-PCR combined with HRMA. The genotypes of the strains matched the defined FeLV wild-type strain genotype with at least 91.17% confidence. A higher degree of sequence polymorphism was found throughout the p27 gene compared with the long terminal repeat region. In conclusion, the current study describes the phylogenetic relationship of the FeLV Taiwan strains and demonstrates that the developed ARMS RT-PCR assay is able to be used to detect the replication of a vaccine strain that has not been properly inactivated, thus acting as a safety check for the quality of FeLV vaccines.

  11. A Point Mutation in the Rhesus Rotavirus VP4 Protein Generated through a Rotavirus Reverse Genetics System Attenuates Biliary Atresia in the Murine Model.

    Science.gov (United States)

    Mohanty, Sujit K; Donnelly, Bryan; Dupree, Phylicia; Lobeck, Inna; Mowery, Sarah; Meller, Jaroslaw; McNeal, Monica; Tiao, Greg

    2017-08-01

    Rotavirus infection is one of the most common causes of diarrheal illness in humans. In neonatal mice, rhesus rotavirus (RRV) can induce biliary atresia (BA), a disease resulting in inflammatory obstruction of the extrahepatic biliary tract and intrahepatic bile ducts. We previously showed that the amino acid arginine (R) within the sequence SRL (amino acids 445 to 447) in the RRV VP4 protein is required for viral binding and entry into biliary epithelial cells. To determine if this single amino acid (R) influences the pathogenicity of the virus, we generated a recombinant virus with a single amino acid mutation at this site through a reverse genetics system. We demonstrated that the RRV mutant (RRV VP4-R446G ) produced less symptomatology and replicated to lower titers both in vivo and in vitro than those seen with wild-type RRV, with reduced binding in cholangiocytes. Our results demonstrate that a single amino acid change in the RRV VP4 gene influences cholangiocyte tropism and reduces pathogenicity in mice. IMPORTANCE Rotavirus is the leading cause of diarrhea in humans. Rhesus rotavirus (RRV) can also lead to biliary atresia (a neonatal human disease) in mice. We developed a reverse genetics system to create a mutant of RRV (RRV VP4-R446G ) with a single amino acid change in the VP4 protein compared to that of wild-type RRV. In vitro , the mutant virus had reduced binding and infectivity in cholangiocytes. In vivo , it produced fewer symptoms and lower mortality in neonatal mice, resulting in an attenuated form of biliary atresia. Copyright © 2017 American Society for Microbiology.

  12. Molecular Defects in Cardiac Myofilament Ca2+-Regulation Due to Cardiomyopathy-Linked Mutations Can Be Reversed by Small Molecules Binding to Troponin.

    Science.gov (United States)

    Sheehan, Alice; Messer, Andrew E; Papadaki, Maria; Choudhry, Afnan; Kren, Vladimír; Biedermann, David; Blagg, Brian; Khandelwal, Anuj; Marston, Steven B

    2018-01-01

    The inherited cardiomyopathies, hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are relatively common, potentially life-threatening and currently untreatable. Mutations are often in the contractile proteins of cardiac muscle and cause abnormal Ca 2+ regulation via troponin. HCM is usually linked to higher myofilament Ca 2+ -sensitivity whilst in both HCM and DCM mutant tissue there is often an uncoupling of the relationship between troponin I (TnI) phosphorylation by PKA and modulation of myofilament Ca 2+ -sensitivity, essential for normal responses to adrenaline. The adrenergic response is blunted, and this may predispose the heart to failure under stress. At present there are no compounds or interventions that can prevent or treat sarcomere cardiomyopathies. There is a need for novel therapies that act at a more fundamental level to affect the disease process. We demonstrated that epigallocatechin-3 gallate (EGCG) was found to be capable of restoring the coupled relationship between Ca 2+ -sensitivity and TnI phosphorylation in mutant thin filaments to normal in vitro , independent of the mutation (15 mutations tested). We have labeled this property "re-coupling." The action of EGCG in vitro to reverse the abnormality caused by myopathic mutations would appear to be an ideal pharmaceutical profile for treatment of inherited HCM and DCM but EGCG is known to be promiscuous in vivo and is thus unsuitable as a therapeutic drug. We therefore investigated whether other structurally related compounds can re-couple myofilaments without these off-target effects. We used the quantitative in vitro motility assay to screen 40 compounds, related to C-terminal Hsp90 inhibitors, and found 23 that can re-couple mutant myofilaments. There is no correlation between re-couplers and Hsp90 inhibitors. The Ca 2+ -sensitivity shift due to TnI phosphorylation was restored to 2.2 ± 0.01-fold ( n = 19) compared to 2.0 ± 0.24-fold ( n = 7) in wild-type thin filaments

  13. Molecular Defects in Cardiac Myofilament Ca2+-Regulation Due to Cardiomyopathy-Linked Mutations Can Be Reversed by Small Molecules Binding to Troponin

    Directory of Open Access Journals (Sweden)

    Alice Sheehan

    2018-03-01

    Full Text Available The inherited cardiomyopathies, hypertrophic cardiomyopathy (HCM and dilated cardiomyopathy (DCM are relatively common, potentially life-threatening and currently untreatable. Mutations are often in the contractile proteins of cardiac muscle and cause abnormal Ca2+ regulation via troponin. HCM is usually linked to higher myofilament Ca2+-sensitivity whilst in both HCM and DCM mutant tissue there is often an uncoupling of the relationship between troponin I (TnI phosphorylation by PKA and modulation of myofilament Ca2+-sensitivity, essential for normal responses to adrenaline. The adrenergic response is blunted, and this may predispose the heart to failure under stress. At present there are no compounds or interventions that can prevent or treat sarcomere cardiomyopathies. There is a need for novel therapies that act at a more fundamental level to affect the disease process. We demonstrated that epigallocatechin-3 gallate (EGCG was found to be capable of restoring the coupled relationship between Ca2+-sensitivity and TnI phosphorylation in mutant thin filaments to normal in vitro, independent of the mutation (15 mutations tested. We have labeled this property “re-coupling.” The action of EGCG in vitro to reverse the abnormality caused by myopathic mutations would appear to be an ideal pharmaceutical profile for treatment of inherited HCM and DCM but EGCG is known to be promiscuous in vivo and is thus unsuitable as a therapeutic drug. We therefore investigated whether other structurally related compounds can re-couple myofilaments without these off-target effects. We used the quantitative in vitro motility assay to screen 40 compounds, related to C-terminal Hsp90 inhibitors, and found 23 that can re-couple mutant myofilaments. There is no correlation between re-couplers and Hsp90 inhibitors. The Ca2+-sensitivity shift due to TnI phosphorylation was restored to 2.2 ± 0.01-fold (n = 19 compared to 2.0 ± 0.24-fold (n = 7 in wild-type thin

  14. 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...

  15. Unusual case of cleft hand

    Directory of Open Access Journals (Sweden)

    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.

  16. Cleft Lip and Cleft Palate Surgery: Malpractice Litigation Outcomes.

    Science.gov (United States)

    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.

  17. [Double second branchial cleft anomaly].

    Science.gov (United States)

    Muñoz-Fernández, Noelia; Mallea-Cañizares, Ismael; Fernández-Julián, Enrique; De La Fuente-Arjona, Luís; Marco-Algarra, Jaime

    2011-01-01

    Second branchial cleft anomalies are the most common of this type of neck masses. They can be classified in four types (Bailey/Proctor classification) according to their location. Type II is the most common, and related to vital neck structures such as the carotid artery and jugular vein. Cysts are the most frequent among them. Management consists of surgical excision of the cyst and tract by cervicotomy to avoid recurrence. We present an extremely rare case of a 32-year-old male who presented a sudden appearance of a right lateral neck mass that was identified by an image study as a double branchial cleft cyst. A review of simultaneous branchial cleft cyst in the literature is also made. Copyright © 2009 Elsevier España, S.L. All rights reserved.

  18. [Surgical correction of cleft palate].

    Science.gov (United States)

    Kimura, F T; Pavia Noble, A; Soriano Padilla, F; Soto Miranda, A; Medellín Rodríguez, A

    1990-04-01

    This study presents a statistical review of corrective surgery for cleft palate, based on cases treated at the maxillo-facial surgery units of the Pediatrics Hospital of the Centro Médico Nacional and at Centro Médico La Raza of the National Institute of Social Security of Mexico, over a five-year period. Interdisciplinary management as performed at the Cleft-Palate Clinic, in an integrated approach involving specialists in maxillo-facial surgery, maxillar orthopedics, genetics, social work and mental hygiene, pursuing to reestablish the stomatological and psychological functions of children afflicted by cleft palate, is amply described. The frequency and classification of the various techniques practiced in that service are described, as well as surgical statistics for 188 patients, which include a total of 256 palate surgeries performed from March 1984 to March 1989, applying three different techniques and proposing a combination of them in a single surgical time, in order to avoid complementary surgery.

  19. Selection bias in genetic-epidemiological studies of cleft lip and palate

    Energy Technology Data Exchange (ETDEWEB)

    Christensen, K.; Holm, N.V.; Kock, K. (Odense Univ. (Denmark)); Olsen, J. (Aarhus Univ. (Denmark)); Fogh-Anderson, P.

    1992-09-01

    The possible impact of selection bias in genetic and epidemiological studies of cleft lip and palate was studied, using three nationwide ascertainment sources and an autopsy study in a 10% sample of the Danish population. A total of 670 cases were identified. Two national record systems, when used together, were found suitable for ascertaining facial cleft in live births. More than 95% ascertainment was obtained by means of surgical files for cleft lip (with or without cleft palate) without associated malformations/syndromes. However, surgical files could be a poor source for studying isolated cleft palate (CP) (only a 60% and biased ascertainment), and they cannot be used to study the prevalence of associated malformations or syndromes in facial cleft cases. The male:female ratio was 0.88 in surgically treated cases of CP and was 1.5 in nonoperated CP cases, making the overall sex ratio for CP 1.1 (95% confidence limits 0.86-1.4) The sex ratio for CP without associated malformation was 1.1 (95% confidence limits 0.84-1.6). One of the major test criteria in CP multifactorial threshold models (higher CP liability among male CP relatives) must be reconsidered, if other investigations confirm that a CP sex-ratio reversal to male predominance occurs when high ascertainment is achieved. 24 refs., 1 fig., 4 tabs.

  20. Surgical treatment of cleft lip

    Directory of Open Access Journals (Sweden)

    Mateus Domingues Miachon

    Full Text Available We performed a systematic review of the literature on the surgical treatment of cleft lip, emphasizing the prevalence, complications associated with the treatment and the points of disagreement between authors. We conducted a literature cross-sectional search that analyzed publications in books, articles and on the databases SciELO - Scientific Electronic Library Online, PubMed, of the National Center for Biotechnology Information. We conclude that: 1 the severity of the cleft will indicate the technique presenting more advantages; 2 the different approaches indicate that there is no consensus on the optimal technique; and 3 the surgeon experience contributes to choosing the best option.

  1. Primary unilateral cleft lip repair

    OpenAIRE

    Adenwalla, H. S.; Narayanan, P. V.

    2009-01-01

    The unilateral cleft lip is a complex deformity. Surgical correction has evolved from a straight repair through triangular and quadrilateral repairs to the Rotation Advancement Technique of Millard. The latter is the technique followed at our centre for all unilateral cleft lip patients. We operate on these at five to six months of age, do not use pre-surgical orthodontics, and follow a protocol to produce a notch-free vermillion. This is easy to follow even for trainees. We also perform clos...

  2. 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.

  3. 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.

  4. Incidence of Cleft Lip and Palate in Uganda

    NARCIS (Netherlands)

    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

  5. Orthognathic surgery in cleft patients.

    Science.gov (United States)

    Phillips, John H; Nish, Iain; Daskalogiannakis, John

    2012-03-01

    After studying this article, the participant should be able to: 1. Identify the skeletal changes in the cleft patient that necessitate surgery. 2. Describe the orthodontic principles that precede surgical treatment. 3. Demonstrate the surgical principles involved in cleft orthognathic surgery and how to avoid common pitfalls particular to cleft orthognathic surgery. 4. Anticipate when dentoalveolar distraction can help in the treatment of problems not easily treated with conventional orthognathic techniques. This CME article covers the basic multidisciplinary approach to the treatment of patients requiring a combined orthodontic orthognathic approach to their skeletally based malocclusion. The dentoskeletal abnormalities are described for these patients, as are the fundamental orthodontic principles in the presurgical treatment of these patients. The basic surgical principles are discussed in general, and the reader is provided with advice on avoiding common pitfalls. Specific attention is given to the more recent advances in dentoalveolar distraction in cases of large defects that would have been difficult to treat using conventional orthognathic surgery. Videos are provided to illustrate the general principles in treating the cleft orthognathic patient and to illustrate the treatment of large defects using dentoalveolar distraction.

  6. Simulating clefts in pumpkin balloons

    Science.gov (United States)

    Baginski, Frank; Brakke, Kenneth

    2010-02-01

    The geometry of a large axisymmetric balloon with positive differential pressure, such as a sphere, leads to very high film stresses. These stresses can be significantly reduced by using a tendon re-enforced lobed pumpkin-like shape. A number of schemes have been proposed to achieve a cyclically symmetric pumpkin shape, including the constant bulge angle (CBA) design, the constant bulge radius (CBR) design, CBA/CBR hybrids, and NASA’s recent constant stress (CS) design. Utilizing a hybrid CBA/CBR pumpkin design, Flight 555-NT in June 2006 formed an S-cleft and was unable to fully deploy. In order to better understand the S-cleft phenomenon, a series of inflation tests involving four 27-m diameter 200-gore pumpkin balloons were conducted in 2007. One of the test vehicles was a 1/3-scale mockup of the Flight 555-NT balloon. Using an inflation procedure intended to mimic ascent, the 1/3-scale mockup developed an S-cleft feature strikingly similar to the one observed in Flight 555-NT. Our analysis of the 1/3-scale mockup found it to be unstable. We compute asymmetric equilibrium configurations of this balloon, including shapes with an S-cleft feature.

  7. 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.

  8. The second branchial cleft fistula.

    Science.gov (United States)

    Maddalozzo, John; Rastatter, Jeffrey C; Dreyfuss, Heath F; Jaffar, Reema; Bhushan, Bharat

    2012-07-01

    To review the surgical anatomy and histopathology of second branchial cleft fistulae. Retrospective study of patients treated for second branchial cleft fistulae at a tertiary care pediatric hospital. The senior author noted anatomic and histologic features of second branchial cleft fistulae, not previously described. Tertiary care children's hospital. Retrospective examination of 28 patients was conducted who were operated upon for second branchial cleft fistula. Data collected included age at surgery, initial presentation, imaging characteristics prior to surgery, laterality of the fistula tract, pathology results and follow-up data. Twenty-eight patients met the criteria for inclusion. Three patients (11%) had bilateral fistulae. 11 (39%) were male and 17 (61%) were female. 23 (74.2%) tracts were lined with ciliated columnar epithelium, 3 (9.7%) had cuboidal epithelium, and 5 (16.7%) had squamous epithelium. Nineteen (61.3%) tracts contained salivary tissue. Of the unilateral fistula tracts, 25 (100%) were on the right side. Of the 3 patients with bilateral lesions, 2 (66%) had associated branchio-oto-renal syndrome (BORS). Second branchial cleft fistulae are rare. They are usually right-sided. If bilateral fistulae are present, one should consider an underlying genetic disorder. The histology of the fistulae mostly demonstrates ciliated columnar epithelium with the majority of specimens showing salivary tissue. There is a clear association with the internal jugular vein (IJV). Dissection should continue until superior to the hyoid bone, ensuring near complete surgical dissection and less risk of recurrence. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  9. Bilateral cleft lip nasal deformity

    Directory of Open Access Journals (Sweden)

    Singh Arun

    2009-01-01

    Full Text Available Bilateral cleft lip nose deformity is a multi-factorial and complex deformity which tends to aggravate with growth of the child, if not attended surgically. The goals of primary bilateral cleft lip nose surgery are, closure of the nasal floor and sill, lengthening of the columella, repositioning of the alar base, achieving nasal tip projection, repositioning of the lower lateral cartilages, and reorienting the nares from horizontal to oblique position. The multiplicity of procedures in the literature for correction of this deformity alludes to the fact that no single procedure is entirely effective. The timing for surgical intervention and its extent varies considerably. Early surgery on cartilage may adversely affect growth and development; at the same time, allowing the cartilage to grow in an abnormal position and contributing to aggravation of deformity. Some surgeons advocate correction of deformity at an early age. However, others like the cartilages to grow and mature before going in for surgery. With peer pressure also becoming an important consideration during the teens, the current trend is towards early intervention. There is no unanimity in the extent of nasal dissection to be done at the time of primary lip repair. While many perform limited nasal dissection for the fear of growth retardation, others opt for full cartilage correction at the time of primary surgery itself. The value of naso-alveolar moulding (NAM too is not universally accepted and has now more opponents than proponents. Also most centres in the developing world have neither the personnel nor the facilities for the same. The secondary cleft nasal deformity is variable and is affected by the extent of the original abnormality, any prior surgeries performed and alteration due to nasal growth. This article reviews the currently popular methods for correction of nasal deformity associated with bilateral cleft lip, it′s management both at the time of cleft lip repair

  10. Dental Care for a Child with Cleft Lip and Palate

    Science.gov (United States)

    ... Donor Spotlight Fundraising Ideas Vehicle Donation Volunteer Efforts Dental Care for a Child with Cleft Lip and ... submenu What We Do Cleft & Craniofacial Educational Materials Dental Care for a Child with Cleft Lip and ...

  11. Treatment for Adults (with Cleft Lip and Palate)

    Science.gov (United States)

    ... here What treatment is available for adults with cleft lip and palate? Treatments currently available to infants and children with cleft lip and palate are also available to adults with clefts. Although ...

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

    Science.gov (United States)

    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.

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

    Indian Academy of Sciences (India)

    Navya

    2016-11-25

    Nov 25, 2016 ... These authors contributed equally to this work. .... individuals without a family history of orofacial clefts or other major congenital defects. ..... Wehby G. L., Cassell C. H. 2010 The impact of orofacial clefts on quality of life and.

  14. 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...

  15. 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...

  16. 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…

  17. Ca2+ toxicity due to reverse Na+/Ca2+ exchange contributes to degeneration of neurites of DRG neurons induced by a neuropathy-associated Nav1.7 mutation

    Science.gov (United States)

    Estacion, M.; Vohra, B. P. S; Liu, S.; Hoeijmakers, J.; Faber, C. G.; Merkies, I. S. J.; Lauria, G.; Black, J. A.

    2015-01-01

    Gain-of-function missense mutations in voltage-gated sodium channel Nav1.7 have been linked to small-fiber neuropathy, which is characterized by burning pain, dysautonomia and a loss of intraepidermal nerve fibers. However, the mechanistic cascades linking Nav1.7 mutations to axonal degeneration are incompletely understood. The G856D mutation in Nav1.7 produces robust changes in channel biophysical properties, including hyperpolarized activation, depolarized inactivation, and enhanced ramp and persistent currents, which contribute to the hyperexcitability exhibited by neurons containing Nav1.8. We report here that cell bodies and neurites of dorsal root ganglion (DRG) neurons transfected with G856D display increased levels of intracellular Na+ concentration ([Na+]) and intracellular [Ca2+] following stimulation with high [K+] compared with wild-type (WT) Nav1.7-expressing neurons. Blockade of reverse mode of the sodium/calcium exchanger (NCX) or of sodium channels attenuates [Ca2+] transients evoked by high [K+] in G856D-expressing DRG cell bodies and neurites. We also show that treatment of WT or G856D-expressing neurites with high [K+] or 2-deoxyglucose (2-DG) does not elicit degeneration of these neurites, but that high [K+] and 2-DG in combination evokes degeneration of G856D neurites but not WT neurites. Our results also demonstrate that 0 Ca2+ or blockade of reverse mode of NCX protects G856D-expressing neurites from degeneration when exposed to high [K+] and 2-DG. These results point to [Na+] overload in DRG neurons expressing mutant G856D Nav1.7, which triggers reverse mode of NCX and contributes to Ca2+ toxicity, and suggest subtype-specific blockade of Nav1.7 or inhibition of reverse NCX as strategies that might slow or prevent axon degeneration in small-fiber neuropathy. PMID:26156380

  18. Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype.

    Science.gov (United States)

    Moncada-Vélez, M; Vélez-Ortega, A; Orrego, J; Santisteban, I; Jagadeesh, J; Olivares, M; Olaya, N; Hershfield, M; Candotti, F; Franco, J

    2011-11-01

    Patients with adenosine deaminase (ADA) deficiency exhibit spontaneous and partial clinical remission associated with somatic reversion of inherited mutations. We report a child with severe combined immunodeficiency (T-B- SCID) due to ADA deficiency diagnosed at the age of 1 month, whose lymphocyte counts including CD4+ and CD8+ T and NK cells began to improve after several months with normalization of ADA activity in Peripheral blood lymphocytes (PBL), as a result of somatic mosaicism caused by monoallelic reversion of the causative mutation in the ADA gene. He was not eligible for haematopoietic stem cell transplantation (HSCT) or gene therapy (GT); therefore he was placed on enzyme replacement therapy (ERT) with bovine PEG-ADA. The follow-up of metabolic and immunologic responses to ERT included gradual improvement in ADA activity in erythrocytes and transient expansion of most lymphocyte subsets, followed by gradual stabilization of CD4+ and CD8+ T (with naïve phenotype) and NK cells, and sustained expansion of TCRγδ+ T cells. This was accompanied by the disappearance of the revertant T cells as shown by DNA sequencing from PBL. Although the patient's clinical condition improved marginally, he later developed a germinal cell tumour and eventually died at the age of 67 months from sepsis. This case adds to our current knowledge of spontaneous reversion of mutations in ADA deficiency and shows that the effects of the ERT may vary among these patients, suggesting that it could depend on the cell and type in which the somatic mosaicism is established upon reversion. © 2011 The Authors. Scandinavian Journal of Immunology © 2011 Blackwell Publishing Ltd.

  19. 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...

  20. 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.

  1. A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells

    NARCIS (Netherlands)

    Kuijpers, Taco W.; van Leeuwen, Ester M. M.; Barendregt, Barbara H.; Klarenbeek, Paul; Aan de Kerk, Daan J.; Baars, Paul A.; Jansen, Machiel H.; de Vries, Niek; van Lier, René A. W.; van der Burg, Mirjam

    2013-01-01

    Mutations in the common gamma chain (γc, CD132, encoded by the IL2RG gene) can lead to B(+)T(-)NK(-) X-linked severe combined immunodeficiency, as a consequence of unresponsiveness to γc-cytokines such as interleukins-2, -7 and -15. Hypomorphic mutations in CD132 may cause combined

  2. Improving Informed Consent for Cleft Palate Repair

    Science.gov (United States)

    2017-03-07

    Cleft Palate; Jaw Abnormalities; Maxillofacial Abnormalities; Mouth Abnormalities; Congenital Abnormalities; Jaw Diseases; Musculoskeletal Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Stomatognathic Diseases; Stomatognathic System Abnormalities

  3. 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.

  4. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  6. Laryngo-tracheo-oesophageal clefts

    Directory of Open Access Journals (Sweden)

    Leboulanger Nicolas

    2011-12-01

    Full Text Available Abstract A laryngo-tracheo-esophageal cleft (LC is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. The estimated annual incidence of LC is 1/10,000 to 1/20,000 live births, accounting for 0.2% to 1.5% of congenital malformations of the larynx. These incidence rates may however be underestimated due to difficulty in diagnosing minor forms and a high mortality rate in severe forms. A slightly higher incidence has been reported in boys than in girls. No specific geographic distribution has been found. Depending on the severity of the malformation, patients may present with stridor, hoarse cry, swallowing difficulties, aspirations, cough, dyspnea and cyanosis through to early respiratory distress. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft, which typically correlates with the severity of symptoms: Type 0 laryngo-tracheo-esophageal cleft to Type 4 laryngo-tracheo-esophageal cleft. LC is often associated with other congenital abnormalities/anomalies (16% to 68%, mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4, and gastro-esophageal reflux disease (GERD. The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-esophageal septum. The causes of the embryological developmental anomalies leading to LC are not known but are thought to be multifactorial. LC appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported. The age of diagnosis depends mainly on the severity of

  7. Laryngo-tracheo-oesophageal clefts

    Science.gov (United States)

    2011-01-01

    A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. The estimated annual incidence of LC is 1/10,000 to 1/20,000 live births, accounting for 0.2% to 1.5% of congenital malformations of the larynx. These incidence rates may however be underestimated due to difficulty in diagnosing minor forms and a high mortality rate in severe forms. A slightly higher incidence has been reported in boys than in girls. No specific geographic distribution has been found. Depending on the severity of the malformation, patients may present with stridor, hoarse cry, swallowing difficulties, aspirations, cough, dyspnea and cyanosis through to early respiratory distress. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft, which typically correlates with the severity of symptoms: Type 0 laryngo-tracheo-esophageal cleft to Type 4 laryngo-tracheo-esophageal cleft. LC is often associated with other congenital abnormalities/anomalies (16% to 68%), mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4), and gastro-esophageal reflux disease (GERD). The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-esophageal septum. The causes of the embryological developmental anomalies leading to LC are not known but are thought to be multifactorial. LC appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported. The age of diagnosis depends mainly on the severity of the clinical symptoms and

  8. Primary unilateral cleft lip repair.

    Science.gov (United States)

    Adenwalla, H S; Narayanan, P V

    2009-10-01

    The unilateral cleft lip is a complex deformity. Surgical correction has evolved from a straight repair through triangular and quadrilateral repairs to the Rotation Advancement Technique of Millard. The latter is the technique followed at our centre for all unilateral cleft lip patients. We operate on these at five to six months of age, do not use pre-surgical orthodontics, and follow a protocol to produce a notch-free vermillion. This is easy to follow even for trainees. We also perform closed alar dissection and extensive primary septoplasty in all these patients. This has improved the overall result and has no long-term deleterious effect on the growth of the nose or of the maxilla. Other refinements have been used for prevention of a high-riding nostril, and correction of the vestibular web.

  9. Primary unilateral cleft lip repair

    Directory of Open Access Journals (Sweden)

    Adenwalla H

    2009-10-01

    Full Text Available The unilateral cleft lip is a complex deformity. Surgical correction has evolved from a straight repair through triangular and quadrilateral repairs to the Rotation Advancement Technique of Millard. The latter is the technique followed at our centre for all unilateral cleft lip patients. We operate on these at five to six months of age, do not use pre-surgical orthodontics, and follow a protocol to produce a notch-free vermillion. This is easy to follow even for trainees. We also perform closed alar dissection and extensive primary septoplasty in all these patients. This has improved the overall result and has no long-term deleterious effect on the growth of the nose or of the maxilla. Other refinements have been used for prevention of a high-riding nostril, and correction of the vestibular web.

  10. [Suture simulator - Cleft palate surgery].

    Science.gov (United States)

    Devinck, F; Riot, S; Qassemyar, A; Belkhou, A; Wolber, A; Martinot Duquennoy, V; Guerreschi, P

    2017-04-01

    Cleft palate requires surgery in the first years of life, furthermore repairing anatomically the soft and hard palate is complex on a surgical level because of the fine tissues and the local intraoral configuration. It is valuable to train first on simulators before going to the operating room. However, there is no material dedicated to learning how to perform intraoral sutures in cleft palate surgery. We made one, in an artisanal manner, in order to practice before the real surgical gesture. The simulator was designed based on precise anatomical data. A steel pipe, fixed on a rigid base represented the oral cavity. An adapted split spoon represented the palate. All pieces could be removed in order to apply a hydrocellular dressing before training for sutures. Our simulator was tested by 3 senior surgeons in our department in close to real-life conditions in order to evaluate its anatomical accuracy. It is valuable to have a simulator to train on cleft palate sutures within teaching university hospitals that manage this pathology. Our simulator has a very low cost, it is easy to make and is anatomically accurate. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  11. 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....

  12. HorTILLUS—A Rich and Renewable Source of Induced Mutations for Forward/Reverse Genetics and Pre-breeding Programs in Barley (Hordeum vulgare L.

    Directory of Open Access Journals (Sweden)

    Miriam E. Szurman-Zubrzycka

    2018-02-01

    Full Text Available TILLING (Targeting Induced Local Lesions IN Genomes is a strategy used for functional analysis of genes that combines the classical mutagenesis and a rapid, high-throughput identification of mutations within a gene of interest. TILLING has been initially developed as a discovery platform for functional genomics, but soon it has become a valuable tool in development of desired alleles for crop breeding, alternative to transgenic approach. Here we present the HorTILLUS (Hordeum—TILLING—University of Silesia population created for spring barley cultivar “Sebastian” after double-treatment of seeds with two chemical mutagens: sodium azide (NaN3 and N-methyl-N-nitrosourea (MNU. The population comprises more than 9,600 M2 plants from which DNA was isolated, seeds harvested, vacuum-packed, and deposited in seed bank. M3 progeny of 3,481 M2 individuals was grown in the field and phenotyped. The screening for mutations was performed for 32 genes related to different aspects of plant growth and development. For each gene fragment, 3,072–6,912 M2 plants were used for mutation identification using LI-COR sequencer. In total, 382 mutations were found in 182.2 Mb screened. The average mutation density in the HorTILLUS, estimated as 1 mutation per 477 kb, is among the highest mutation densities reported for barley. The majority of mutations were G/C to A/T transitions, however about 8% transversions were also detected. Sixty-one percent of mutations found in coding regions were missense, 37.5% silent and 1.1% nonsense. In each gene, the missense mutations with a potential effect on protein function were identified. The HorTILLUS platform is the largest of the TILLING populations reported for barley and best characterized. The population proved to be a useful tool, both in functional genomic studies and in forward selection of barley mutants with required phenotypic changes. We are constantly renewing the HorTILLUS population, which makes it a

  13. Risk of Oral Clefts in Twins

    DEFF Research Database (Denmark)

    Grosen, Dorthe; Bille, Camilla; Petersen, Inge

    2011-01-01

    and heritability. Twins (207 affected/130,710) and singletons (7766 affected/4,798,526) born from 1936 through 2004 in Denmark were ascertained by linkage among the Danish Facial Cleft Database, the Danish Twin Registry, and the Civil Registration System. We computed oral cleft prevalence and prevalence proportion...

  14. Maternal occupational risk factors for oral clefts

    NARCIS (Netherlands)

    Lorente, C; Cordier, S; Bergeret, A; De Walle, HEK; Goujard, J; Ayme, S; Knill-Jones, R; Calzolari, E

    Objectives This study investigated the role of maternal exposures at work during pregnancy in the occurrence of oral clefts. Methods The occupational exposures of 851 women (100 mothers of babies with oral clefts and 751 mothers of healthy referents) who worked during the first trimester of

  15. An undescribed first branchial cleft anomaly.

    Science.gov (United States)

    Rockey, Jason Gabriel; John, D Gareth; Herbetko, John

    2003-06-01

    A variant of a type 2 first branchial cleft anomaly, in which accessory ossicles were found, is described. There follows a discussion of the classification of first branchial cleft abnormalities and how this particular case falls outside the standard classification. CT scanning is mentioned as the investigation that is most useful for defining these abnormalities.

  16. Dating brittle tectonic movements with cleft monazite

    DEFF Research Database (Denmark)

    Berger, Alfons; Gnos, E.; Janots, E.

    2013-01-01

    stress axis, which is characteristic for strike slip deformation. The inferred stress situation is consistent with observed kinematics and the opening of such clefts. Therefore, the investigated monazite-bearing cleft formed at the end of D2 and/or D3, and dextral movements along NNW dipping planes...

  17. Rathke's Cleft Cyst as Origin of a Pediatric Papillary Craniopharyngioma.

    Science.gov (United States)

    Schlaffer, Sven-Martin; Buchfelder, Michael; Stoehr, Robert; Buslei, Rolf; Hölsken, Annett

    2018-01-01

    A 6-year old patient presented with an intra and suprasellar cystic lesion accompanied with impairment of the hypothalamic-pituitary axis and partial hypopituitarism. The most likely cause of sellar lesions in this age group are adamantinomatous craniopharyngioma (adaCP) or Rathke´s cleft cysts (RCCs). AdaCP are characterized by CTNNB1 mutations accompanied with aberrant nuclear beta-catenin expression. RCC show neither nuclear beta-catenin expression nor BRAF mutation. The latter is a hallmark of papillary craniopharyngiomas (papCP) that exhibit remarkable histological similarity with metaplasia of RCC. Diagnosis of the patient was elucidated by CTNNB1 and BRAF mutation screening, utilizing different approaches, as well as histological examination of markers, e.g., beta-catenin, claudin-1, EpCAM and the mutated BRAFV600E protein, which are known to be differentially expressed in sellar lesions. The case presented reveals extraordinary aspects for two reasons. Firstly, the lesion appeared clinically, on MRI, intraoperatively and histologically as RCC with prominent squamous metaplasia, but showing an expression pattern of markers also found in papCP, whilst exhibiting a hitherto undescribed BRAF V 600 E mutation. This important result documents a supposable transition of RCC metaplasia into a papillary craniopharyngioma (papCP). Secondly, this intriguing case shows unexpectedly that although papCP usually occurs almost exclusively in adults, it can also arise in childhood.

  18. Rathke's Cleft Cyst as Origin of a Pediatric Papillary Craniopharyngioma

    Directory of Open Access Journals (Sweden)

    Sven-Martin Schlaffer

    2018-02-01

    Full Text Available A 6-year old patient presented with an intra and suprasellar cystic lesion accompanied with impairment of the hypothalamic-pituitary axis and partial hypopituitarism. The most likely cause of sellar lesions in this age group are adamantinomatous craniopharyngioma (adaCP or Rathke´s cleft cysts (RCCs. AdaCP are characterized by CTNNB1 mutations accompanied with aberrant nuclear beta-catenin expression. RCC show neither nuclear beta-catenin expression nor BRAF mutation. The latter is a hallmark of papillary craniopharyngiomas (papCP that exhibit remarkable histological similarity with metaplasia of RCC. Diagnosis of the patient was elucidated by CTNNB1 and BRAF mutation screening, utilizing different approaches, as well as histological examination of markers, e.g., beta-catenin, claudin-1, EpCAM and the mutated BRAFV600E protein, which are known to be differentially expressed in sellar lesions. The case presented reveals extraordinary aspects for two reasons. Firstly, the lesion appeared clinically, on MRI, intraoperatively and histologically as RCC with prominent squamous metaplasia, but showing an expression pattern of markers also found in papCP, whilst exhibiting a hitherto undescribed BRAFV600E mutation. This important result documents a supposable transition of RCC metaplasia into a papillary craniopharyngioma (papCP. Secondly, this intriguing case shows unexpectedly that although papCP usually occurs almost exclusively in adults, it can also arise in childhood.

  19. Cleft lip and palate surgery in children: Anaesthetic considerations ...

    African Journals Online (AJOL)

    Background: The Care of cleft patients is very challenging. Team cleft care is usually lacking in many developing countries due to shortage of qualified manpower. This study is aimed at highlighting anaesthetic challenges in the management of cleft in children. Patients and Methods: This was a study of cleft lip and palate ...

  20. 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...

  1. Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J.; Carlson, Jenna C.; Shaffer, John R.

    2017-01-01

    Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial birth defects with complex etiologies that include genetic and environmental risk factors. OFCs are commonly categorized as cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which have h...

  2. Mutator activity in Schizophyllum commune

    Energy Technology Data Exchange (ETDEWEB)

    Shneyour, Y.; Koltin, Y. (Tel Aviv Univ. (Israel). Dept. of Microbiology)

    1983-01-01

    A strain with an elevated level of spontaneous mutations and an especially high rate of reversion at a specific locus (pab/sup -/) was identified. The mutator trait is recessive. UV sensitivity and the absence of a UV-specific endonucleolytic activity were associated with the enhancement of the mutation rate in mutator strains. The endonuclease associated with the regulation of the mutation rate also acted on single-stranded DNA. The molecular weight of this enzyme is about 38,000 daltons.

  3. Ambulatory cleft lip surgery: A value analysis.

    Science.gov (United States)

    Arneja, Jugpal S; Mitton, Craig

    2013-01-01

    Socialized health systems face fiscal constraints due to a limited supply of resources and few reliable ways to control patient demand. Some form of prioritization must occur as to what services to offer and which programs to fund. A data-driven approach to decision making that incorporates outcomes, including safety and quality, in the setting of fiscal prudence is required. A value model championed by Michael Porter encompasses these parameters, in which value is defined as outcomes divided by cost. To assess ambulatory cleft lip surgery from a quality and safety perspective, and to assess the costs associated with ambulatory cleft lip surgery in North America. Conclusions will be drawn as to how the overall value of cleft lip surgery may be enhanced. A value analysis of published articles related to ambulatory cleft lip repair over the past 30 years was performed to determine what percentage of patients would be candidates for ambulatory cleft lip repair from a quality and safety perspective. An economic model was constructed based on costs associated with the inpatient stay related to cleft lip repair. On analysis of the published reports in the literature, a minority (28%) of patients are currently discharged in an ambulatory fashion following cleft lip repair. Further analysis suggests that 88.9% of patients would be safe candidates for same-day discharge. From an economic perspective, the mean cost per patient for the overnight admission component of ambulatory cleft surgery to the health care system in the United States was USD$2,390 and $1,800 in Canada. The present analysis reviewed germane publications over a 30-year period, ultimately suggesting that ambulatory cleft lip surgery results in preservation of quality and safety metrics for most patients. The financial model illustrates a potential cost saving through the adoption of such a practice change. For appropriately selected patients, ambulatory cleft surgery enhances overall health care value.

  4. Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations

    Directory of Open Access Journals (Sweden)

    Eduardo P. Mattos

    2015-03-01

    Full Text Available Campomelic dysplasia (CD is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate short stature, flat face, micrognathia, cleft palate, bell-shaped thorax, and club feet. Up to three quarters of 46, XY individuals may be sex-reversed. Radiological signs include scapular and pubic hypoplasia, narrow iliac wings, spaced ischia, and bowed femora and tibiae. Lethal CD is usually due to heterozygous mutations in SOX9, a major regulator of chondrocytic development. We present a detailed clinical and molecular characterization of nine Brazilian CD patients. Infants were either stillborn (n = 2 or died shortly after birth and presented similar phenotypes. Sex-reversal was observed in one of three chromosomally male patients. Sequencing of SOX9 revealed new heterozygous mutations in seven individuals. Six patients had mutations that resulted in premature transcriptional termination, while one infant had a single-nucleotide substitution at the conserved splice-site acceptor of intron 1. No clear genotype-phenotype correlations were observed. This study highlights the diversity of SOX9 mutations leading to lethal CD, and expands the group of known genetic alterations associated with this skeletal dysplasia.

  5. 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)

  6. A functional proteogenomic analysis of endometrioid and clear cell carcinomas using reverse phase protein array and mutation analysis: protein expression is histotype-specific and loss of ARID1A/BAF250a is associated with AKT phosphorylation

    International Nuclear Information System (INIS)

    Wiegand, Kimberly C; Lu, Yiling; Zhang, Fan; Anglesio, Michael S; Gilks, Blake; Mills, Gordon B; Huntsman, David G; Carey, Mark S; Hennessy, Bryan T; Leung, Samuel; Wang, Yemin; Ju, Zhenlin; McGahren, Mollianne; Kalloger, Steve E; Finlayson, Sarah; Stemke-Hale, Katherine

    2014-01-01

    Ovarian cancer is now recognized as a number of distinct diseases primarily defined by histological subtype. Both clear cell ovarian carcinomas (CCC) and ovarian endometrioid carcinomas (EC) may arise from endometriosis and frequently harbor mutations in the ARID1A tumor suppressor gene. We studied the influence of histological subtype on protein expression with reverse phase protein array (RPPA) and assessed proteomic changes associated with ARID1A mutation/BAF250a expression in EC and CCC. Immunohistochemistry (IHC) for BAF250a expression was performed on 127 chemotherapy-naive ovarian carcinomas (33 CCC, 29 EC, and 65 high-grade serous ovarian carcinomas (HGSC)). Whole tumor lysates were prepared from frozen banked tumor samples and profiled by RPPA using 116 antibodies. ARID1A mutations were identified by exome sequencing, and PIK3CA mutations were characterized by MALDI-TOF mass spectrometry. SAM (Significance Analysis of Microarrays) was performed to determine differential protein expression by histological subtype and ARID1A mutation status. Multivariate logistic regression was used to assess the impact of ARID1A mutation status/BAF250a expression on AKT phosphorylation (pAKT). PIK3CA mutation type and PTEN expression were included in the model. BAF250a knockdown was performed in 3 clear cell lines using siRNA to ARID1A. Marked differences in protein expression were observed that are driven by histotype. Compared to HGSC, SAM identified over 50 proteins that are differentially expressed in CCC and EC. These included PI3K/AKT pathway proteins, those regulating the cell cycle, apoptosis, transcription, and other signaling pathways including steroid hormone signaling. Multivariate models showed that tumors with loss of BAF250a expression showed significantly higher levels of AKT-Thr 308 and AKT-Ser 473 phosphorylation (p < 0.05). In 31 CCC cases, pAKT was similarly significantly increased in tumors with BAF250a loss on IHC. Knockdown of BAF250a by siRNA in

  7. Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female

    DEFF Research Database (Denmark)

    Müller, Jørn; Schwartz, M; Skakkebaek, N E

    1992-01-01

    The first and essential step in normal sexual differentiation takes place during the 5th-6th week of gestation. The testis determining factor (TDF) directs the undifferentiated gonad into a testis, which secretes hormones responsible for normal male development. A new candidate for TDF has recently...... been reported, and it has been called the sex determining region of the Y (SRY). The hypothesis has been supported by the finding of XX individuals with SRY, and two females with 46,XY karyotype and a mutation in SRY. However, XX males without SRY has been reported, and the role of SRY still has...... to be determined. We have tested three human females with 46,XY karyotype and gonadal dysgenesis and two 46,XX males for the presence of SRY using the polymerase chain reaction and subsequent DNA sequencing. Both 46,XX males contained SRY, whereas one of the 46,XY females had suffered a point mutation in SRY...

  8. 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.

  9. 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

  10. 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.

  11. 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.

  12. Molecular Defects in Cardiac Myofilament Ca2+-Regulation Due to Cardiomyopathy-Linked Mutations Can Be Reversed by Small Molecules Binding to Troponin

    Czech Academy of Sciences Publication Activity Database

    Sheehan, A.; Messer, A.E.; Papadaki, M.; Choudhry, A.; Křen, Vladimír; Biedermann, David; Blagg, B.; Khandelwal, A.; Marston, S.B.

    2018-01-01

    Roč. 9, MAR 27 2018 (2018), č. článku 243. ISSN 1664-042X R&D Projects: GA MZd(CZ) NV16-27317A Institutional support: RVO:61388971 Keywords : cardiomyopathy * sarcomeric protein mutations * troponin I phosphorylation OBOR OECD: Cardiac and Cardiovascular systems Impact factor: 4.134, year: 2016

  13. Magnetic resonance imaging of cleft palate

    Energy Technology Data Exchange (ETDEWEB)

    Naito, Yasushi; Tasaka, Yasuyuki; Honjo, Iwao; Nishimura, Kazumasa; Nakano, Yoshihisa

    1987-03-01

    Magnetic resonance imaging (MRI) of the nasopharynx and the eustachian tube was performed in five patients with cleft palate and compared with the results of those without this anomaly. Various degrees of deformity of the eustachian tube cartilage were found in cleft palate patients. The levator veli palatini muscles were situated more laterally in cleft palate patients than in normal subjects. Also, changes in the position of these muscles after palatoplasty were clearly depicted by MRI. Besides several autopsy reports, this is the first demonstration of the characteristic anomaly around the eustachian tube by a non-invasive method.

  14. Branchial cleft cyst encircling the hypoglossal nerve

    Science.gov (United States)

    Long, Kristin L.; Spears, Carol; Kenady, Daniel E.

    2013-01-01

    Branchial cleft anomalies are a common cause of lateral neck masses and may present with infection, cyst enlargement or fistulas. They may affect any of the nearby neck structures, causing compressive symptoms or vessel thrombosis. We present a case of a branchial cleft cyst in a 10-year-old boy who had been present for 1year. At the time of operation, the cyst was found to completely envelop the hypoglossal nerve. While reports of hypoglossal nerve palsies due to external compression from cysts are known, we believe this to be the first report of direct nerve involvement by a branchial cleft cyst. PMID:24963902

  15. 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.

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

    Science.gov (United States)

    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.

  17. 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 ...

  18. Mutation V111I in HIV-2 reverse transcriptase increases the fitness of the nucleoside analogue-resistant K65R and Q151M viruses

    NARCIS (Netherlands)

    I. Deuzing (Ilona); C. Charpentier (Charlotte); D.J. Wright (David Justin); S. Matheron (Sophie); J. Paton (Jack); D. Frentz (Dineke); D.A.M.C. van de Vijver (David); P.V. Coveney (Peter); D. Descamps (Diane); C.A.B. Boucher (Charles); N. Beerens (Nancy)

    2015-01-01

    textabstractInfection with HIV-2 can ultimately lead to AIDS, although disease progression is much slower than with HIV-1. HIV-2 patients are mostly treated with a combination of nucleoside reverse transcriptase (RT) inhibitors (NRTIs) and protease inhibitors designed for HIV-1. Many studies have

  19. 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.

  20. In silico reversal of repeat-induced point mutation (RIP identifies the origins of repeat families and uncovers obscured duplicated genes

    Directory of Open Access Journals (Sweden)

    Hane James K

    2010-11-01

    Full Text Available Abstract Background Repeat-induced point mutation (RIP is a fungal genome defence mechanism guarding against transposon invasion. RIP mutates the sequence of repeated DNA and over time renders the affected regions unrecognisable by similarity search tools such as BLAST. Results DeRIP is a new software tool developed to predict the original sequence of a RIP-mutated region prior to the occurrence of RIP. In this study, we apply deRIP to the genome of the wheat pathogen Stagonospora nodorum SN15 and predict the origin of several previously uncharacterised classes of repetitive DNA. Conclusions Five new classes of transposon repeats and four classes of endogenous gene repeats were identified after deRIP. The deRIP process is a new tool for fungal genomics that facilitates the identification and understanding of the role and origin of fungal repetitive DNA. DeRIP is open-source and is available as part of the RIPCAL suite at http://www.sourceforge.net/projects/ripcal.

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

    Science.gov (United States)

    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.

  2. Evidence-based medicine: cleft palate.

    Science.gov (United States)

    Chepla, Kyle J; Gosain, Arun K

    2013-12-01

    After reading this article, the participant should be able to: 1. Describe recent changes in treatment of cleft palate. 2. Compare the efficacy of different surgical treatments. 3. Assess their own knowledge of cleft palate repair. 4. Determine where further individual in-depth study and development are warranted. The Maintenance of Certification in Plastic Surgery series is designed to ensure professional development and measure continued competency within a specialty or subspecialty. The present article provides an evaluation of the interval studies regarding the management of cleft palate with a specific focus on craniofacial growth, speech outcomes, and obstructive sleep apnea since the last Maintenance of Certification in Plastic Surgery article on the subject published in 2010. This purpose of this article is to update plastic and craniomaxillofacial surgeons on recent changes in treatment of cleft palate, provide a means for accurate self-assessment, and guide further individual in-depth study and development.

  3. First branchial cleft anomalies: avoiding the misdiagnosis.

    Science.gov (United States)

    Kumar, Rajeev; Sikka, Kapil; Sagar, Prem; Kakkar, Aanchal; Thakar, Alok

    2013-07-01

    First branchial cleft anomalies are a very rare entities accounting for less than 1 % of all branchial cleft malformations. They are often misdiagnosed for other cystic lesions occurring in parotid gland and inadequately treated (incision and drainage or incomplete excision) leading to multiple recurrences. We report a series of four patients who were previously operated (incision and drainage) for misdiagnosed first branchial cleft anomalies with subsequent recurrences. All patients underwent superficial parotidectomy with complete tract excision using facial nerve monitoring to prevent iatrogenic injury because of extensive fibrosis. We discuss the literature pertaining to first branchial cleft anomalies, their varied presentations and their relationship to facial nerve in parotid gland and importance of facial nerve monitoring in revision surgery.

  4. Cleft Lip and Palate (For Parents)

    Science.gov (United States)

    ... Things That Help Feelings Expert Answers Q&A Movies & More for Teens Teens site Sitio para adolescentes ... spite of these and other social, psychological, and educational challenges, kids with clefts just want to be ...

  5. Second branchial cleft cyst of the oropharynx

    International Nuclear Information System (INIS)

    Paik, Sang Hyun; Kim, Hyun Sook; Moon Seung Il; Choi, Yun Sun; Cho, Jae Min; Cho, Sung Bum; Yoon, Sook Ja; Kim, Dai Hong; Yoon, Yong Kyu

    2001-01-01

    We report a very rare type of second branchial cleft cyst located at the oropharynx, and include a review of the literature. CT scans of the neck revealed a homogeneous non-enhancing low-density mass in the right posterolateral mucosal wall of the oropharynx. Only the peripheral capsule of the mass was enhanced. The cyst was resected perorally and proved to be a type-IV second branchial cleft cyst

  6. Second branchial cleft cyst of the oropharynx

    Energy Technology Data Exchange (ETDEWEB)

    Paik, Sang Hyun; Kim, Hyun Sook; Moon Seung Il; Choi, Yun Sun; Cho, Jae Min; Cho, Sung Bum; Yoon, Sook Ja; Kim, Dai Hong; Yoon, Yong Kyu [Eulji Univ. School of Medicine, Seoul (Korea, Republic of)

    2001-06-01

    We report a very rare type of second branchial cleft cyst located at the oropharynx, and include a review of the literature. CT scans of the neck revealed a homogeneous non-enhancing low-density mass in the right posterolateral mucosal wall of the oropharynx. Only the peripheral capsule of the mass was enhanced. The cyst was resected perorally and proved to be a type-IV second branchial cleft cyst.

  7. Mutations in the catalytic core or the C-terminus of murine leukemia virus (MLV) integrase disrupt virion infectivity and exert diverse effects on reverse transcription

    International Nuclear Information System (INIS)

    Steinrigl, Adolf; Nosek, Dagmara; Ertl, Reinhard; Guenzburg, Walter H.; Salmons, Brian; Klein, Dieter

    2007-01-01

    Understanding of the structures and functions of the retroviral integrase (IN), a key enzyme in the viral replication cycle, is essential for developing antiretroviral treatments and facilitating the development of safer gene therapy vehicles. Thus, four MLV IN-mutants were constructed in the context of a retroviral vector system, harbouring either a substitution in the catalytic centre, deletions in the C-terminus, or combinations of both modifications. IN-mutants were tested for their performance in different stages of the viral replication cycle: RNA-packaging; RT-activity; transient and stable infection efficiency; dynamics of reverse transcription and nuclear entry. All mutant vectors packaged viral RNA with wild-type efficiencies and displayed only slight reductions in RT-activity. Deletion of either the IN C-terminus alone, or in addition to part of the catalytic domain exerted contrasting effects on intracellular viral DNA levels, implying that IN influences reverse transcription in more than one direction

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

    Science.gov (United States)

    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.

  9. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  11. Dental fear in children with a cleft lip and/or cleft Palate

    NARCIS (Netherlands)

    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

  12. 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 ...

  13. [Safety Evaluation of Rare Sugar Syrup: Single-dose Oral Toxicity in Rats, Reverse Mutation Assay, Chromosome Aberration Assay, and Acute Non-Effect Level for Diarrhea of a Single Dose in Humans].

    Science.gov (United States)

    Yamada, Takako; Iida, Tetsuo; Takamine, Satoshi; Hayashi, Noriko; Okuma, Kazuhiro

    2015-01-01

    The safety of rare sugar syrup obtained from high-fructose corn syrup under slightly alkaline conditions was studied. Mutagenicity of rare sugar syrup was assessed by a reverse mutation assay using Salmonella typhimurium and Escherichia coli, and an in vitro chromosomal aberration assay using Chinese hamster lung cell line (CHL/IU). No mutagenicity of rare sugar syrup was detected under these experimental conditions. Oral administration of single dose (15,000 mg/kg) of rare sugar syrup to rats caused no abnormalities, suggesting no adverse effect of rare sugar syrup. In humans, the acute non-effect level of rare sugar syrup for causing diarrhea was estimated as 0.9 g/kg body weight as dry solid base in both males and females.

  14. 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.

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  16. 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

  17. Sensitivity and specificity of a real-time reverse transcriptase polymerase chain reaction detecting feline coronavirus mutations in effusion and serum/plasma of cats to diagnose feline infectious peritonitis.

    Science.gov (United States)

    Felten, Sandra; Leutenegger, Christian M; Balzer, Hans-Joerg; Pantchev, Nikola; Matiasek, Kaspar; Wess, Gerhard; Egberink, Herman; Hartmann, Katrin

    2017-08-02

    Feline coronavirus (FCoV) exists as two pathotypes, and FCoV spike gene mutations are considered responsible for the pathotypic switch in feline infectious peritonitis (FIP) pathogenesis. The aim of this study was to evaluate sensitivity and specificity of a real-time reverse transcriptase polymerase chain reaction (RT-PCR) specifically designed to detect FCoV spike gene mutations at two nucleotide positions. It was hypothesized that this test would correctly discriminate feline infectious peritonitis virus (FIPV) and feline enteric coronavirus (FECV). The study included 63 cats with signs consistent with FIP. FIP was confirmed in 38 cats. Twenty-five control cats were definitively diagnosed with a disease other than FIP. Effusion and/or serum/plasma samples were examined by real-time RT-PCR targeting the two FCoV spike gene fusion peptide mutations M1058 L and S1060A using an allelic discrimination approach. Sensitivity, specificity, negative and positive predictive values including 95% confidence intervals (95% CI) were calculated. FIPV was detected in the effusion of 25/59 cats, one of them being a control cat with chronic kidney disease. A mixed population of FIPV/FECV was detected in the effusion of 2/59 cats; all of them had FIP. RT-PCR was negative or the pathotype could not be determined in 34/59 effusion samples. In effusion, sensitivity was 68.6% (95% CI 50.7-83.2), specificity was 95.8% (95% CI 78.9-99.9). No serum/plasma samples were positive for FIPV. Although specificity of the test in effusions was high, one false positive result occurred. The use of serum/plasma cannot be recommended due to a low viral load in blood.

  18. Prevalence of orofacial clefts and risks for nonsyndromic cleft lip with or without cleft palate in newborns at a university hospital from West Mexico.

    Science.gov (United States)

    Corona-Rivera, Jorge Román; Bobadilla-Morales, Lucina; Corona-Rivera, Alfredo; Peña-Padilla, Christian; Olvera-Molina, Sandra; Orozco-Martín, Miriam A; García-Cruz, Diana; Ríos-Flores, Izabel M; Gómez-Rodríguez, Brian Gabriel; Rivas-Soto, Gemma; Pérez-Molina, J Jesús

    2018-02-19

    We determined the overall prevalence of typical orofacial clefts and the potential risks for nonsyndromic cleft lip with or without cleft palate in a university hospital from West México. For the prevalence, 227 liveborn infants with typical orofacial clefts were included from a total of 81,193 births occurred during the period 2009-2016 at the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Guadalajara, Jalisco, Mexico). To evaluate potential risks, a case-control study was conducted among 420 newborns, including only those 105 patients with nonsyndromic cleft lip with or without cleft palate (cases), and 315 infants without birth defects (controls). Data were analyzed using multivariable logistic regression analysis expressed as adjusted odds ratio with 95% confidence intervals . The overall prevalence for typical orofacial clefts was 28 per 10,000 (95% confidence interval: 24.3-31.6), or 1 per 358 live births. The mean values for the prepregnancy weight, antepartum weight, and pre-pregnancy body mass index were statistically higher among the mothers of cases. Infants with nonsyndromic cleft lip with or without cleft palate had a significantly higher risk for previous history of any type of congenital anomaly (adjusted odds ratio: 2.7; 95% confidence interval: 1.4-5.1), history of a relative with cleft lip with or without cleft palate (adjusted odds ratio: 19.6; 95% confidence interval: 8.2-47.1), and first-trimester exposures to progestogens (adjusted odds ratio: 6.8; 95% CI 1.8-25.3), hyperthermia (adjusted odds ratio: 3.4; 95% confidence interval: 1.1-10.6), and common cold (adjusted odds ratio: 3.6; 95% confidence interval: 1.1-11.9). These risks could have contributed to explain the high prevalence of orofacial clefts in our region of Mexico, emphasizing that except for history of relatives with cleft lip with or without cleft palate, most are susceptible of modification. © 2018 Japanese Teratology Society.

  19. Reverse transcriptase and protease inhibitor resistant mutations in art treatment naïve and treated HIV-1 infected children in India A Short Review

    Directory of Open Access Journals (Sweden)

    Dinesh Bure,

    2016-08-01

    Full Text Available Introduction of first line and second line antiretroviral therapy has dramatically improved the quality of life and survival of the HIV-1 infected individuals. Extension of this therapy in children has similar effect. However the emergence of drug selected resistance has hampered the response to the therapy. A database of prevalence of drug resistance mutations in the Indian children both ART naïve and treated will help in deciding the appropriate regimen for the individual patient as well as formulating the policies regarding the composition of drugs included in the fixed dose combinations and its periodic review by analysis of the information that is made available from time to time. This will enable us to utilize our limited resources in most prudent way.

  20. Midline nasal dermoid cyst with Tessier's 0 cleft

    OpenAIRE

    Guruprasad, Yadavalli; Chauhan, Dinesh Singh

    2014-01-01

    This is a rare anomaly of midline nasal dermoid cyst (NDC) along with Tessier's 0 cleft. Midline NDCs present most commonly result from aberrant embryological development, and most commonly give rise to bifid nasal deformity resulting in midline cleft of the nose. Craniofacial clefts are among the most disfiguring of all facial anomalies. They exist in a multitude of patterns and with varying degrees of severity. The bifid nose deformity is generally an indicator of Tessier number 0 cleft. We...

  1. Unusual extension of the first branchial cleft anomaly.

    Science.gov (United States)

    Ada, Mehmet; Korkut, Nazim; Güvenç, M Güven; Acioğlu, Engin; Yilmaz, Süleyman; Cevikbaş, Uğur

    2006-03-01

    First branchial cleft is the only branchial structure that persists as the external ear canal, while all other clefts are resorbed. Incomplete obliteration and the degree of closure cause the varied types of first branchial cleft anomalies. They were classified based on the anatomical and histological features. We present an unusual type of first branchial cleft anomaly involving the external auditory canal, the middle ear and the nasopharynx through the eustachian tube.

  2. Mothers' experiences when their infants were diagnosed with cleft ...

    African Journals Online (AJOL)

    Traditionally the diagnosis of cleft lip and palate was made at birth or soon thereafter, but modern technology has led to the identification of cleft lip prenatally. The aim of this study was to describe 16 mothers' experiences of pre- and postnatal diagnosis of their infants' cleft lip and palate, and to develop clinical guidelines for ...

  3. Assessment of scar quality after cleft lip closure

    NARCIS (Netherlands)

    Frans, Franceline A.; van Zuijlen, Paul P. M.; Griot, J. P. W. Don; van der Horst, Chantal M. A. M.

    2012-01-01

    To assess scar quality after cleft lip repair. The linear scars of patients with cleft lip with or without cleft palate were evaluated in a prospective study using the Patient and Observer Scar Assessment Scale. Linear regression was performed to identify which scar characteristics were important

  4. Evaluation of Teeth Development in Unilateral Cleft Lip and Palate ...

    African Journals Online (AJOL)

    2018-02-23

    Feb 23, 2018 ... in patients with cleft lip and palate using medical software ... to be used in routine dental treatment and in particular the need to do more study. ... cleft palate/lip surgery were examined. ... segment from the “evaluate” tab of the program. Teeth .... cases of cleft palate or lip. ..... of maxillary canines: A CT study.

  5. 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

  6. Cleft palate caused by congenital teratoma.

    Science.gov (United States)

    Veyssière, Alexis; Streit, Libor; Traoré, Hamady; Bénateau, Hervé

    2017-02-01

    A cleft palate results from incomplete fusion of the lateral palatine processes, the median nasal septum and the median palatine process. This case report describes a rare case of congenital teratoma originating from the nasal septum that may have interfered with the fusion of the palatal shelves during embryonic development, resulting in a cleft palate. An infant girl was born at 40 weeks of gestation weighing 3020 g with a complete cleft palate associated with a large central nasopharyngeal tumour. Computed tomography (CT) of the head showed a well defined mass of mixed density. The tumour was attached to the nasal septum in direct contact with the cleft palate. A biopsy confirmed the teratoma. Tumour resection was performed at 5 months, soft palate reconstruction at 7 months and hard palate closure at 14 months. There was no sign of local recurrence 1 year later. Most teratomas are benign and the prognosis is usually good. However, recurrence is not rare if germ cell carcinomatous foci are present within the teratoma. For these reasons, we advocate the use of a two-stage procedure in which closure of the cleft palate is postponed until histological examination confirms complete excision of the teratoma.

  7. Occlusal Classification in Relation to Original Cleft Width in Patients With Unilateral Cleft Lip and Palate.

    Science.gov (United States)

    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.

  8. The Fetal Cleft palate: V. Elucidation of the Mechanism of Palatal Clefting in the Congenital Caprine Model

    Science.gov (United States)

    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...

  9. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

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

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Carlson, Jenna C; Shaffer, John R

    2017-01-01

    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. ...

  12. Bilateral optic disc pit with maculopathy in a patient with cleft lip and cleft palate

    Directory of Open Access Journals (Sweden)

    Anisha Seth

    2015-01-01

    Full Text Available Optic disc pit (ODP is small, gray-white, oval depression found at the optic nerve head. It is a congenital defect that occurs due to imperfect closure of superior edge of the embryonic fissure. Cleft lip and palate are also congenital midline abnormalities occurring due to defect in the fusion of frontonasal prominence, maxillary prominence and mandibular prominence. There is only one case report describing the occurrence of ODP in a young patient with cleft lip and palate who also had basal encephalocele. We describe a 52-year-old patient with congenital cleft lip and palate with bilateral ODP with maculopathy but without any other midline abnormality.

  13. Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome.

    Science.gov (United States)

    van Straten, Cornelia; Butow, Kurt-W

    2013-01-01

    An analysis was made of three different syndromes associated with p63 gene mutations, known as ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), ankyloblepharon-ectodermal dysplasia clefting syndrome (AEC or Hay-Wells) and Rapp-Hodgkin syndrome (RHS). The postoperative complications associated with their cleft reconstructions were also evaluated. Extensive demographic information, in particular of the clinical appearances, associated malformations, and the types and complications of the reconstructive surgical procedures, were recorded of these syndromic cases occurring in a database of 3621 facial cleft deformity patients. The data was analyzed using the Microsoft Excel program. A total of 10 (0.28%) cases of p63 associated syndromes were recorded: EEC (6), RHS (3), and AEC (1). The following clinical cleft appearances were noted - EEC = 6: CLA 1 -right side unilateral (female); CLAP 4 - right side (1) + left side (1) unilateral (male + female); bilateral (2) (males); hPsP 1 (female) (divided in 3 Black, 2 White, 1 Indian); RHS = 3: CLAP 2 (White males); hPsP 1 (White female); AEC = 1: CLAP bilateral (White male). Other features of the syndromes were: skin, hand, foot, tooth, hair and nail involvement, and light sensitivity. Postoperative complications included: (i) stenosis of nasal opening, especially after reconstruction of the bilateral cleft lip and the columella lengthening (2 cases), (ii) premaxilla-prolabium fusion (2 cases), (iii) repeated occurrence of oro-nasal fistula in the hard palate (4 cases), and (iv) dysgnathial development of midfacial structures (3 cases). Three different p63 associated syndromes (EEC, AEC, and RHS) were diagnosed (0.27% of the total facial cleft deformities database). The majority of the cases presented with a bilateral CLAP in males only. A number of females and males had unilateral CLA. The hPsP-cleft was recorded in females only. The associated ectodermal component most probably had a profoundly negative influence

  14. Type II first branchial cleft anomaly.

    Science.gov (United States)

    Al-Mahdi, Akmam H; Al-Khurri, Luay E; Atto, Ghada Z; Dhaher, Ameer

    2013-01-01

    First branchial cleft anomaly is a rare disease of the head and neck. It accounts for less than 8% of all branchial abnormalities. It is classified into type I, which is thought to arise from the duplication of the membranous external ear canal and are composed of ectoderm only, and type II that have ectoderm and mesoderm. Because of its rarity, first branchial cleft anomaly is often misdiagnosed and results in inappropriate management. A 9-year-old girl presented to us with fistula in the submandibular region and discharge in the external ear. Under general anesthesia, complete surgical excision of the fistula tract was done through step-ladder approach, and the histopathologic examination confirmed the diagnosis of type II first branchial cleft anomaly.

  15. Reverse Algols

    Science.gov (United States)

    Leung, K. C.

    1989-01-01

    Reverse Algols, binary systems with a semidetached configuration in which the more massive component is in contact with the critical equipotential surface, are examined. Observational evidence for reverse Algols is presented and the parameters of seven reverse Algols are listed. The evolution of Algols and reverse Algols is discussed. It is suggested that, because reverse Algols represent the premass-reversal semidetached phase of close binary evolution, the evolutionary time scale between regular and reverse Algols is the ratio of the number of confirmed systems of these two Algol types.

  16. Reverse Logistics

    OpenAIRE

    Kulikova, Olga

    2016-01-01

    This thesis was focused on the analysis of the concept of reverse logistics and actual reverse processes which are implemented in mining industry and finding solutions for the optimization of reverse logistics in this sphere. The objective of this paper was the assessment of the development of reverse logistics in mining industry on the example of potash production. The theoretical part was based on reverse logistics and mining waste related literature and provided foundations for further...

  17. 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.

  18. IDH1/2 Mutations Sensitize Acute Myeloid Leukemia to PARP Inhibition and This Is Reversed by IDH1/2-Mutant Inhibitors.

    Science.gov (United States)

    Molenaar, Remco J; Radivoyevitch, Tomas; Nagata, Yasunobu; Khurshed, Mohammed; Przychodzen, Bartolomiej; Makishima, Hideki; Xu, Mingjiang; Bleeker, Fonnet E; Wilmink, Johanna W; Carraway, Hetty E; Mukherjee, Sudipto; Sekeres, Mikkael A; van Noorden, Cornelis J F; Maciejewski, Jaroslaw P

    2018-04-01

    Purpose: Somatic mutations in IDH1/2 occur in approximately 20% of patients with myeloid neoplasms, including acute myeloid leukemia (AML). IDH1/2 MUT enzymes produce D -2-hydroxyglutarate ( D 2HG), which associates with increased DNA damage and improved responses to chemo/radiotherapy and PARP inhibitors in solid tumor cells. Whether this also holds true for IDH1/2 MUT AML is not known. Experimental Design: Well-characterized primary IDH1 MUT , IDH2 MUT , and IDH1/2 WT AML cells were analyzed for DNA damage and responses to daunorubicin, ionizing radiation, and PARP inhibitors. Results: IDH1/2 MUT caused increased DNA damage and sensitization to daunorubicin, irradiation, and the PARP inhibitors olaparib and talazoparib in AML cells. IDH1/2 MUT inhibitors protected against these treatments. Combined treatment with a PARP inhibitor and daunorubicin had an additive effect on the killing of IDH1/2 MUT AML cells. We provide evidence that the therapy sensitivity of IDH1/2 MUT cells was caused by D 2HG-mediated downregulation of expression of the DNA damage response gene ATM and not by altered redox responses due to metabolic alterations in IDH1/2 MUT cells. Conclusions: IDH1/2 MUT AML cells are sensitive to PARP inhibitors as monotherapy but especially when combined with a DNA-damaging agent, such as daunorubicin, whereas concomitant administration of IDH1/2 MUT inhibitors during cytotoxic therapy decrease the efficacy of both agents in IDH1/2 MUT AML. These results advocate in favor of clinical trials of PARP inhibitors either or not in combination with daunorubicin in IDH1/2 MUT AML. Clin Cancer Res; 24(7); 1705-15. ©2018 AACR . ©2018 American Association for Cancer Research.

  19. 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....

  20. Mutation of foxl2 or cyp19a1a Results in Female to Male Sex Reversal in XX Nile Tilapia.

    Science.gov (United States)

    Zhang, Xianbo; Li, Mengru; Ma, He; Liu, Xingyong; Shi, Hongjuan; Li, Minghui; Wang, Deshou

    2017-08-01

    It is well accepted that Forkhead box protein L2 (Foxl2) and aromatase (Cyp19a1; the enzyme responsible for estrogen synthesis) are critical for ovarian development in vertebrates. Knockouts of Foxl2 and Cyp19a1 in goat, mouse, and zebrafish have revealed similar but not identical functions across species. Functional analyses of these two genes in other animals are needed to elucidate their conserved roles in vertebrate sexual development. In this study, we established foxl2 and cyp19a1a mutant lines in Nile tilapia. Both foxl2-/- and cyp19a1a-/- XX fish displayed female-to-male sex reversal. Sf1, Dmrt1, and Gsdf were upregulated in the foxl2-/- and the cyp19a1a-/- XX gonads. Downregulation of Cyp19a1a and serum estradiol-17β level, and upregulation of Cyp11b2 and serum 11-ketotestosterone level were observed in foxl2-/- XX fish. The mutant phenotype of foxl2-/- XX individuals could be rescued by 17β-estradiol treatment from 5 to 30 days after hatching (dah). Upregulation of Star1, the enzyme involved in androgen production in tilapia, was also observed in the foxl2-/- XX gonad at 30 and 90 dah. In vitro promoter analyses consistently demonstrated that Foxl2 could suppress the transcription of star1 in a dose-dependent manner. In addition, compared with the control XX gonad, fewer germ cells were detected in the foxl2-/- XX, cyp19a1a-/- XX, and control XY gonads 10 dah. These results demonstrate that Foxl2 promotes ovarian development by upregulating Cyp19a1a expression and repressing male pathway gene expression. These results extend the study of Foxl2 and Cyp19a1a loss of function to a commercially important fish species. Copyright © 2017 Endocrine Society.

  1. Genetic survey of a group of children with clefting: implications for genetic counseling

    NARCIS (Netherlands)

    Hofstee, Y.; Kors, N.; Hennekam, R. C.

    1993-01-01

    A cleft lip, cleft palate, or both are associated with a high frequency of other anomalies. This study gives an inventory of associated anomalies in a consecutive group of children (n = 36) with clefts, referred to a local multidisciplinary cleft team in the Netherlands. In 47.2% of cleft patients

  2. 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.

  3. 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.

  4. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  6. 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.

  7. 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.

  8. Early correction of septum JJ deformity in unilateral cleft lip-cleft palate.

    Science.gov (United States)

    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.

  9. Sequential emergence and clinical implications of viral mutants with K70E and K65R mutation in reverse transcriptase during prolonged tenofovir monotherapy in rhesus macaques with chronic RT-SHIV infection

    Directory of Open Access Journals (Sweden)

    Pedersen Niels C

    2007-04-01

    Full Text Available Abstract Background We reported previously on the emergence and clinical implications of simian immunodeficiency virus (SIVmac251 mutants with a K65R mutation in reverse transcriptase (RT, and the role of CD8+ cell-mediated immune responses in suppressing viremia during tenofovir therapy. Because of significant sequence differences between SIV and HIV-1 RT that affect drug susceptibilities and mutational patterns, it is unclear to what extent findings with SIV can be extrapolated to HIV-1 RT. Accordingly, to model HIV-1 RT responses, 12 macaques were inoculated with RT-SHIV, a chimeric SIV containing HIV-1 RT, and started on prolonged tenofovir therapy 5 months later. Results The early virologic response to tenofovir correlated with baseline viral RNA levels and expression of the MHC class I allele Mamu-A*01. For all animals, sensitive real-time PCR assays detected the transient emergence of K70E RT mutants within 4 weeks of therapy, which were then replaced by K65R mutants within 12 weeks of therapy. For most animals, the occurrence of these mutations preceded a partial rebound of plasma viremia to levels that remained on average 10-fold below baseline values. One animal eventually suppressed K65R viremia to undetectable levels for more than 4 years; sequential experiments using CD8+ cell depletion and tenofovir interruption demonstrated that both CD8+ cells and continued tenofovir therapy were required for sustained suppression of viremia. Conclusion This is the first evidence that tenofovir therapy can select directly for K70E viral mutants in vivo. The observations on the clinical implications of the K65R RT-SHIV mutants were consistent with those of SIVmac251, and suggest that for persons infected with K65R HIV-1 both immune-mediated and drug-dependent antiviral activities play a role in controlling viremia. These findings suggest also that even in the presence of K65R virus, continuation of tenofovir treatment as part of HAART may be

  10. Comparative Assessment of the Cleft Profile by Patients with Cleft Lip and Palate, Cleft Surgeons, and Lay People.

    Science.gov (United States)

    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 .

  11. 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

  12. Parental Reactions to Cleft Palate Children.

    Science.gov (United States)

    Vanpoelvoorde, Leah

    This literature review examines parental reactions following the birth of a cleft lip/palate child, focusing primarily on the mother's reactions. The research studies cited have explored such influences on maternal reactions as her feelings of lack of control over external forces and her feelings of guilt that the deformity was her fault. Delays…

  13. Neuroembryology and functional anatomy of craniofacial clefts

    Directory of Open Access Journals (Sweden)

    Ewings Ember

    2009-10-01

    Full Text Available The master plan of all vertebrate embryos is based on neuroanatomy. The embryo can be anatomically divided into discrete units called neuromeres so that each carries unique genetic traits. Embryonic neural crest cells arising from each neuromere induce development of nerves and concomitant arteries and support the development of specific craniofacial tissues or developmental fields. Fields are assembled upon each other in a programmed spatiotemporal order. Abnormalities in one field can affect the shape and position of developing adjacent fields. Craniofacial clefts represent states of excess or deficiency within and between specific developmental fields. The neuromeric organization of the embryo is the common denominator for understanding normal anatomy and pathology of the head and neck. Tessier′s observational cleft classification system can be redefined using neuroanatomic embryology. Reassessment of Tessier′s empiric observations demonstrates a more rational rearrangement of cleft zones, particularly near the midline. Neuromeric theory is also a means to understand and define other common craniofacial problems. Cleft palate, encephaloceles, craniosynostosis and cranial base defects may be analyzed in the same way.

  14. Thymic cyst: a fourth branchial cleft anomaly.

    Science.gov (United States)

    Nayan, Smriti; MacLean, Jonathan; Sommer, Doron

    2010-01-01

    We report a unique case of a fourth branchial cleft cyst found within the thymus of an adult patient. In the literature to date, there have been no reports of such a finding in the adult population. These anomalies can often cause recurrent acute suppurative thyroiditis or recurrent deep neck abscesses. Delay in recognizing the underlying etiology can lead to significant complications.

  15. Nasal Glial Heterotopia with Cleft Palate.

    Science.gov (United States)

    Chandna, Sudhir; Mehta, Milind A; Kulkarni, Abhishek Kishore

    2018-01-01

    Congenital midline nasal masses are rare anomalies of which nasal glial heterotopia represents an even rarer subset. We report a case of a 25-day-old male child with nasal glial heterotopia along with cleft palate suggesting embryonic fusion anomaly which was treated with excision and primary closure for nasal mass followed by palatal repair at later date.

  16. Nasal glial heterotopia with cleft palate

    Directory of Open Access Journals (Sweden)

    Sudhir Chandna

    2018-01-01

    Full Text Available Congenital midline nasal masses are rare anomalies of which nasal glial heterotopia represents an even rarer subset. We report a case of a 25-day-old male child with nasal glial heterotopia along with cleft palate suggesting embryonic fusion anomaly which was treated with excision and primary closure for nasal mass followed by palatal repair at later date.

  17. Maternal genes and facial clefts in offspring

    DEFF Research Database (Denmark)

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

    2010-01-01

    BACKGROUND: Fetal conditions can in principle be affected by the mother's genotype working through the prenatal environment. METHODOLOGY/PRINCIPAL FINDINGS: Genotypes for 1536 SNPs in 357 cleft candidate genes were available from a previous analysis in which we focused on fetal gene effects [1]. ...

  18. The Chechen it-cleft construction

    NARCIS (Netherlands)

    Komen, E.R.

    2015-01-01

    This paper presents a biclausal construction in Chechen, arguing that it can be analyzed as an it-cleft. The construction consists of a main copula clause with a covert or pronominal subject, and a temporal complement that co-indexes with an adjunct position in a relative clause that does not form a

  19. A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction

    Directory of Open Access Journals (Sweden)

    M Pasupathy

    2016-01-01

    Full Text Available Acampomelic campomelic dysplasia (CD is a type of CD (CD; OMIM #114290, a rare form of congenital short-limbed dwarfism and is due to mutations in SOX9 gene family. Characteristic phenotypes of CD include bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate and micrognathia. The bending of the long bones is not an obligatory feature and is absent in about 10% of cases, referred to as acampomelic CD. A child previously diagnosed with acampomelic CD was brought to our outpatient clinic for cleft palate reconstruction. Our neurosurgeon cautioned us against performing surgery with extension of the neck in view of the possibility of producing quadriparesis, due to narrowing of the spinal canal as part of the osseous anomaly noted in the magnetic resonance imaging study of the spine, thus making the anaesthesia, surgical and post-operative procedures difficult. The cleft palate reconstruction was performed with all precautions and was uneventful.

  20. Nature of mutants induced by ionizing radiation in cultured hamster cells. II. Antigenic response and reverse mutation of HPRT-deficient mutants induced by. gamma. -rays or ethyl methanesulphonate

    Energy Technology Data Exchange (ETDEWEB)

    Brown, R; Stretch, A; Thacker, J

    1986-04-01

    A large series of independent mutants deficient in HPRT enzyme activity, isolated from V79-4 hamster cells, were assessed for properties which reflect the nature of the genetic changes induced. A total of 88 mutants were screened, 43 isolated from ..gamma..-ray-treated cultures and 45 induced by ethyl methanesulphonate (EMS). Firstly, each mutant was assayed for the presence of protein with the antigenic response of HPRT. In a competitive inhibition assay, 31% of EMS-induced mutants were CRM-positive compared to 7% of the ..gamma..-ray series. Secondly, each mutant was tested for ability to revert to HPRT proficiency. All except 2 of the EMS-induced mutants reverted with ethyl nitrosourea ENU, and many reverted spontaneously, under the given conditions. However reversion was not detected in about 80% of ..gamma..-ray-induced mutants, suggesting that the types of forward mutation caused by ionizing radiation differ qualitatively from those caused by EMS. (Auth.). 30 refs.; 6 figs.; 2 tabs.

  1. Novel HBV recombinants between genotypes B and C in 3'-terminal reverse transcriptase (RT) sequences are associated with enhanced viral DNA load, higher RT point mutation rates and place of birth among Chinese patients.

    Science.gov (United States)

    Liu, Baoming; Yang, Jing-Xian; Yan, Ling; Zhuang, Hui; Li, Tong

    2018-01-01

    As one of the major global public health concerns, hepatitis B virus (HBV) can be divided into at least eight genotypes, which may be related to disease severity and treatment response. We previously demonstrated that genotypes B and C HBV, with distinct geographical distribution in China, had divergent genotype-dependent amino acid polymorphisms and variations in reverse transcriptase (RT) gene region, a target of antiviral therapy using nucleos(t)ide analogues. Recently recombination between HBV genotypes B and C was reported to occur in the RT region. However, their frequency and clinical significance is poorly understood. Here full-length HBV RT sequences from 201 Chinese chronic hepatitis B (CHB) patients were amplified and sequenced, among which 31.34% (63/201) were genotype B whereas 68.66% (138/201) genotype C. Although no intergenotypic recombination was detected among C-genotype HBV, 38.10% (24/63) of B-genotype HBV had recombination with genotype C in the 3'-terminal RT sequences. The patients with B/C intergenotypic recombinants had significantly (Pdistribution feature in China. Our findings provide novel insight into the virological, clinical and epidemiological features of new HBV B/C intergenotypic recombinants at the 3' end of RT sequences among Chinese CHB patients. The highly complex genetic background of the novel recombinant HBV carrying new mutations affecting RT protein may contribute to an enhanced heterogeneity in treatment response or prognosis among CHB patients. Published by Elsevier B.V.

  2. Cranio-facial clefts in pre-hispanic America.

    Science.gov (United States)

    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.

  3. 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...

  4. Reverse Osmosis

    Indian Academy of Sciences (India)

    many applications, one of which is desalination of seawater. The inaugural Nobel Prize in Chemistry was awarded in 1901 to van 't Hoff for his seminal work in this area. The present article explains the principle of osmosis and reverse osmosis. Osmosis and Reverse Osmosis. As the name suggests, reverse osmosis is the ...

  5. An Allelic Series of Trp63 Mutations Defines TAp63 as a Modifier of EEC Syndrome

    Science.gov (United States)

    Lindahl, Emma Vernersson; Garcia, Elvin L.; Mills, Alea A.

    2014-01-01

    Human Ectrodactyly, Ectodermal dysplasia, Clefting (EEC) syndrome is an autosomal dominant developmental disorder defined by limb deformities, skin defects, and craniofacial clefting. Although associated with heterozygous missense mutations in TP63, the genetic basis underlying the variable expressivity and incomplete penetrance of EEC is unknown. Here we show that mice heterozygous for an allele encoding the Trp63 p.Arg318His mutation, which corresponds to the human TP63 p.Arg279His mutation found in patients with EEC, have features of human EEC. Using an allelic series, we discovered that whereas clefting and skin defects are caused by loss of Trp63 function, limb anomalies are due to gain- and/or dominant-negative effects of Trp63. Furthermore, we identify TAp63 as a strong modifier of EEC-associated phenotypes with regard to both penetrance and expressivity. PMID:23775923

  6. 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

  7. 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.

  8. Current surgical practices in cleft care: cleft palate repair techniques and postoperative care.

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  10. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

    DEFF Research Database (Denmark)

    Beaty, Terri H; Murray, Jeffrey C; Marazita, Mary L

    2010-01-01

    Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635...

  11. Sonographic detection of intrathyroidal branchial cleft cyst: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Hye-Jeong; Kim, Eun-Kyung; Hong, Soon-Won [Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2006-06-15

    We report here on an extremely rare case of an intrathyroidal branchial cleft cyst. Intrathyroidal branchial cleft cyst is rare disease entity and it nonspecific findings on sonography, so the diagnosis of the lesion is very difficult. However, during aspiration, if pus-like materials are aspirated from a thyroid cyst, we should consider the possibility of intrathyroidal branchial cleft cyst in the differential diagnosis.

  12. Sonographic detection of intrathyroidal branchial cleft cyst: a case report

    International Nuclear Information System (INIS)

    Lee, Hye-Jeong; Kim, Eun-Kyung; Hong, Soon-Won

    2006-01-01

    We report here on an extremely rare case of an intrathyroidal branchial cleft cyst. Intrathyroidal branchial cleft cyst is rare disease entity and it nonspecific findings on sonography, so the diagnosis of the lesion is very difficult. However, during aspiration, if pus-like materials are aspirated from a thyroid cyst, we should consider the possibility of intrathyroidal branchial cleft cyst in the differential diagnosis

  13. Congenital heart defects in children with oral clefts

    Directory of Open Access Journals (Sweden)

    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.

  14. Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting.

    Science.gov (United States)

    Howe, B J; Cooper, M E; Vieira, A R; Weinberg, S M; Resick, J M; Nidey, N L; Wehby, G L; Marazita, M L; Moreno Uribe, L M

    2015-07-01

    Children with oral clefts show a wide range of dental anomalies, adding complexity to understanding the phenotypic spectrum of orofacial clefting. The evidence is mixed, however, on whether the prevalence of dental anomalies is elevated in unaffected relatives and is mostly based on small samples. In the largest international cohort to date of children with nonsyndromic clefts, their relatives, and controls, this study characterizes the spectrum of cleft-related dental anomalies and evaluates whether families with clefting have a significantly higher risk for such anomalies compared with the general population. A total of 3,811 individuals were included: 660 cases with clefts, 1,922 unaffected relatives, and 1,229 controls. Dental anomalies were identified from in-person dental exams or intraoral photographs, and case-control differences were tested using χ(2) statistics. Cases had higher rates of dental anomalies in the maxillary arch than did controls for primary (21% vs. 4%, P = 3 × 10(-8)) and permanent dentitions (51% vs. 8%, P = 4 × 10(-62)) but not in the mandible. Dental anomalies were more prevalent in cleft lip with cleft palate than other cleft types. More anomalies were seen in the ipsilateral side of the cleft. Agenesis and tooth displacements were the most common dental anomalies found in case probands for primary and permanent dentitions. Compared with controls, unaffected siblings (10% vs. 2%, P = 0.003) and parents (13% vs. 7%, P = 0.001) showed a trend for increased anomalies of the maxillary permanent dentition. Yet, these differences were nonsignificant after multiple-testing correction, suggesting genetic heterogeneity in some families carrying susceptibility to both overt clefts and dental anomalies. Collectively, the findings suggest that most affected families do not have higher genetic risk for dental anomalies than the general population and that the higher prevalence of anomalies in cases is primarily a physical consequence of the

  15. MR findings of intravertebral vacuum cleft: Report of two cases

    International Nuclear Information System (INIS)

    Lee, Sung Moon; Suh, Soo Jhi; Suh, Kyung Jin

    1994-01-01

    Intravertebral vacuum cleft in collapsed vertebra was considered as a typical finding of avascular necrosis. However, several authors reported some cases of intravertebral vacuum cleft in primary or secondary neoplasm, or in spondylitis emphasizing the differential diagnosis. MRI is known to be a useful diagnostic modality for differentiation between benign and malignanct conditions causing vertebral collapse. We report MRI findings of two cases with intravertebral vacuum cleft diagnosed as posttraumatic collapse with avascular necrosis on radiological and clinical bases

  16. MR findings of intravertebral vacuum cleft: Report of two cases

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sung Moon; Suh, Soo Jhi [School of Medicine, Keimyung University, Taegu (Korea, Republic of); Suh, Kyung Jin [College of Medicine, Kyungpook National University, Taegu (Korea, Republic of)

    1994-07-15

    Intravertebral vacuum cleft in collapsed vertebra was considered as a typical finding of avascular necrosis. However, several authors reported some cases of intravertebral vacuum cleft in primary or secondary neoplasm, or in spondylitis emphasizing the differential diagnosis. MRI is known to be a useful diagnostic modality for differentiation between benign and malignanct conditions causing vertebral collapse. We report MRI findings of two cases with intravertebral vacuum cleft diagnosed as posttraumatic collapse with avascular necrosis on radiological and clinical bases.

  17. Three novel and two known androgen receptor gene mutations ...

    Indian Academy of Sciences (India)

    gene mutations associated with androgen insensitivity syndrome in sex-reversed XY female patients. J. Genet. ... signal and a C-terminal. Keywords. androgen insensitivity syndrome; androgen receptor; truncation mutation; N-terminal domain; XY sex reversal. .... and an increased risk of gonadal tumour. Mutations in SRY.

  18. Variations in Velopharyngeal Structure in Adults With Repaired Cleft Palate.

    Science.gov (United States)

    Perry, Jamie L; Kotlarek, Katelyn J; Sutton, Bradley P; Kuehn, David P; Jaskolka, Michael S; Fang, Xiangming; Point, Stuart W; Rauccio, Frank

    2018-01-01

    The purpose of this study was to examine differences in velopharyngeal structures between adults with repaired cleft palate and normal resonance and adults without cleft palate. Thirty-six English-speaking adults, including 6 adults (2 males and 4 females) with repaired cleft palate (M = 32.5 years of age, SD = 17.4 years) and 30 adults (15 males and 15 females) without cleft palate (M = 23.3 years of age, SD = 4.1 years), participated in the study. Fourteen velopharyngeal measures were obtained on magnetic resonance images and compared between groups (cleft and noncleft). After adjusting for body size and sex effects, there was a statistically significant difference between groups for 10 out of the 14 velopharyngeal measures. Compared to those without cleft palate, participants with repaired cleft palate had a significantly shorter hard palate height and length, shorter levator muscle length, shorter intravelar segment, more acute levator angles of origin, shorter and thinner velum, and greater pharyngeal depth. Although significant differences were evident in the cleft palate group, individuals displayed normal resonance. These findings suggest that a wide variability in velopharyngeal anatomy can occur in the presence of normal resonance, particularly for those with repaired cleft palate. Future research is needed to understand how anatomic variability impacts function, such as during speech.

  19. Branchial cleft anomalies and their mimics: computed tomographic evaluation

    International Nuclear Information System (INIS)

    Harnsberger, H.R.; Mancuso, A.A.; Muraki, A.S.; Byrd, S.E.; Dillon, W.P.; Johnson, L.P.; Hanafee, W.N.

    1984-01-01

    A review was made of the clinical records and radiographic examinations of 38 patients with neck lesions clinically suspected of being branchial cleft anomalies. The impact of computed tomography in this sometimes confusing clinical picture was assessed and CT criteria for diagnosing branchial cleft anomalies (BCAs) and differentiating them from their mimics were identified. Seventeen branchial cleft anomalies and 21 BCA mimics were evaluated. A definitive CT diagnosis of second branchial cleft cysts based on characteristic morphology, location, and displacement of surrounding structures was possible in 80% of cases. CT was found to be the best radiographic examination in making a definitive diagnosis of BCA if a neck mass was present

  20. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome

    Directory of Open Access Journals (Sweden)

    Reema Sharma Dhar

    2014-01-01

    Full Text Available Ectrodactyly-ectodermal dysplasia-cleft (EEC syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.

  1. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.

    Science.gov (United States)

    Dhar, Reema Sharma; Bora, Amitava

    2014-01-01

    Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.

  2. The development of speech production in children with cleft palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth; Chapman, Kathy

    2012-01-01

    The purpose of this chapter is to provide an overview of speech development of children with cleft palate +/- cleft lip. The chapter will begin with a discussion of the impact of clefting on speech. Next, we will provide a brief description of those factors impacting speech development...... for this population of children. Finally, research examining various aspects of speech development of infants and young children with cleft palate (birth to age five) will be reviewed. This final section will be organized by typical stages of speech sound development (e.g., prespeech, the early word stage...

  3. Changing lifestyles and oral clefts occurrence in Denmark

    DEFF Research Database (Denmark)

    Bille, Camilla; Knudsen, Lisbeth B.; Christensen, Kaare

    2005-01-01

    ; furthermore, smoking among pregnant women decreased considerably. Design and settings There are few places in which ecological studies of oral clefts are possible. Denmark provides a particularly good setting for this kind of study, due to a high ascertainment and a centralized registration of cleft cases...... through the last 65 years. Participants Cleft occurrence in Denmark 1936 to 1987 has previously been reported. Here we extend the study to include all live-born children with oral clefts born in Denmark in 1988 throguh 2001. Among a total of 992,727 live births 1332 children with CL(P) were born during...

  4. Risk factors and comorbidities in Brazilian patients with orofacial clefts

    Directory of Open Access Journals (Sweden)

    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.

  5. Intrasellar abscess simultaning a Rathke's cleft cyst

    International Nuclear Information System (INIS)

    Nakashima, Toshihiko; Murakawa, Takatsugu; Iwai, Tomohiko; Hirata, Toshifumi; Sakai, Noboru

    1983-01-01

    Both symptomatic Rathke's cleft cyst and intrasellar abscess are exceedingly rare. We present a case of intrasellar abscess developed in a Rathke's cleft cyst. A 60-year-old man was admitted to our hospital with complaints of polyuria, polydipsia, headache, and remittent fever. On admission, his neurological and ophthalmological examination was normal. Panhypopituitarism was revealed by endocrine testing. Plain-skull X-ray films showed no abnormalities, but a CT scan showed a small cystic lesion with a ring-like enhancement in the sella turcica and paranasal sinusitis. Further sagittal reconstruction of the CT scan demonstrated that the diaphragma sellae protruded upwards and that the pituitary stalk was markedly enhanced and enlarged. After the sinusitis improved, transsphenoidal surgery was carried out. Approximately 1 ml of the purulent contents were aspirated from the intrasellar region. The postoperative course was uneventful. A histological examination of the abscess wall revealed a ciliated columnar epithelium and inflammatory-cell infiltration beneath the epithelium. (author)

  6. Assessment of the safety of hydrogenated resistant maltodextrin: reverse mutation assay, acute and 90-day subchronic repeated oral toxicity in rats, and acute no-effect level for diarrhea in humans.

    Science.gov (United States)

    Yoshikawa, Yuko; Kishimoto, Yuka; Tagami, Hiroyuki; Kanahori, Sumiko

    2013-01-01

    A series of safety assessments were performed on hydrogenated resistant maltodextrin prepared by converting the reducing terminal glucose of resistant maltodextrin into sorbitol. The reverse mutation assay did not show mutagenicity. Acute and 90-day subchronic oral toxicity studies in rats showed no death was observed in any groups, including the group receiving the highest single dose of 10 g/kg body weight or the highest dose of 5 g/kg body weight per day for 90 days. Mucous or watery stools were observed in the hydrogenated resistant maltodextrin treatment group on the acute study, which were transient and were associated with the osmotic pressure caused by intake of the high concentrations. Subchronic study showed dose-dependent increases in the weights of cecum alone, cecal contents alone, and cecum with cecal contents as well as hypertrophy of the cecal mucosal epithelium, which are considered to be common physiological responses after intake of indigestible carbohydrates. These results indicated that the no observed adverse effect level (NOAEL) of hydrogenated resistant maltodextrin was 10 g/kg body weight or more on the acute oral toxicity study and 5.0 g/kg body weight/day or more on the 90-day subchronic repeated oral toxicity study in rats. Further study performed in healthy adult humans showed that the acute no-effect level of hydrogenated resistant maltodextrin for diarrhea was 0.8 g/kg body weight for men and more than 1.0 g/kg body weight for women. The results of the current safety assessment studies suggest that hydrogenated resistant maltodextrin is safe for human consumption.

  7. Ocular surface involvements in ectrodactyly-ectodermal dysplasia-cleft syndrome.

    Science.gov (United States)

    Kennedy, David P; Chandler, John W; McCulley, James P

    2015-06-01

    To present the ocular manifestation of 2 cases of ectrodactyly-ectodermal dysplasia-cleft syndrome, a multiple congenital anomaly syndrome caused by a single point mutation of the p63 gene that controls epidermal development and homeostasis and to present treatment options. Patient 1 presented with mild signs and symptoms of dry eye and limbal stem cell deficiency with retention of 20/30 vision. Patient 2 presented with severe signs and symptoms of limbal stem cell deficiency with diffuse corneal scarring and counting fingers vision. This second patient's course was complicated by allergic conjunctivitis and advanced steroid-induced glaucoma. The cause of visual loss in ectrodactyly-ectodermal dysplasia-cleft syndrome appears to be multifactorial and likely includes inflammation of the ocular surface, tear film abnormalities, eyelid abnormalities, and limbal stem cell deficiency. Treatment modalities including lubrication, contact lenses, and limbal stem cell transplantation are reviewed. The ophthalmic conditions seen in ectrodactyly-ectodermal dysplasia-cleft syndrome frequently lead to vision loss. Early correct diagnosis and appropriate therapy are paramount because p63 gene mutations have a critical role in maintaining the integrity of the ocular surface in the setting of limbal stem cell deficiency, especially if there are other ocular surface insults such as lid disease, meibomian gland dysfunction and toxicity from topical medications. Patients should be monitored at regular, frequent intervals; and particular attention should be taken to avoid adverse secondary effects of these conditions and medications. Copyright © 2015 British Contact Lens Association. Published by Elsevier Ltd. All rights reserved.

  8. A study of nasal cavity volume in patients with cleft lip and palate by magnetic resonance imaging

    International Nuclear Information System (INIS)

    Nakano, Kenichi

    1996-01-01

    Nasal cavity volume was studied in 11 patients with cleft lip and palate by magnetic resonance imaging. The areas of horizontal sections of the nasal cavity on the cleft and non-cleft sides were measured with the help of a personal computer and image analyzing software. Nasal cavity volume was determined by integrated volume calculation. The volume of each side was measured before and after cleft lip repair. Before cleft lip repair nasal cavity volume on the non-cleft side was larger than on the cleft side. However there was no significant difference in the volume of the cleft and non-cleft sides after cleft lip repair. (author)

  9. A study of nasal cavity volume in patients with cleft lip and palate by magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Nakano, Kenichi [Showa Univ., Tokyo (Japan). School of Medicine

    1996-02-01

    Nasal cavity volume was studied in 11 patients with cleft lip and palate by magnetic resonance imaging. The areas of horizontal sections of the nasal cavity on the cleft and non-cleft sides were measured with the help of a personal computer and image analyzing software. Nasal cavity volume was determined by integrated volume calculation. The volume of each side was measured before and after cleft lip repair. Before cleft lip repair nasal cavity volume on the non-cleft side was larger than on the cleft side. However there was no significant difference in the volume of the cleft and non-cleft sides after cleft lip repair. (author)

  10. Fenda cervical mediana Midline cervical cleft

    Directory of Open Access Journals (Sweden)

    José V. Tagliarini

    2004-10-01

    Full Text Available A fenda mediana congênita do pescoço é anomalia rara da parte ventral do pescoço. Em torno de 100 casos foram relatados na literatura, sendo o primeiro caso descrito por Bailey em 1924. Este defeito é relatado em associação com fenda mediana do lábio inferior, fenda da mandíbula e da língua, e hipoplasia de outras estruturas cervicais medianas. Acredita-se que seja uma malformação originada dos dois primeiros arcos branquiais. O tratamento da lesão consiste na excisão vertical da lesão e reparação do defeito resultante. A maioria dos autores recomenda evitar a reparação simples da lesão, preferindo a fechamento com a utilização de zetaplastia múltiplas, com o intuito de evitar fibrose e retração local. Neste artigo relatamos dois casos dessa anomalia e realizamos revisão bibliográfica.The midline cervical cleft is an unusual congenital anomaly of the ventral neck and fewer than 100 cases have been reported overall and the first described by Bailey in 1924. This anomaly is report in association with median cleft of lower lip, cleft mandible and tongue, and hypoplasia of other midline neck structures. Its considered an anomaly originated from the two first branchial arches. The treatment of this cleft is a vertical complete excision and a closure with multiple Z-plasty. Many authors recommend avoid linear closure and prefer multiple Z-plasty for evicted fibrosis and local retraction. In this paper we report 2 case of this anomaly and the literature is reviewed.

  11. Economic Valuation of the Global Burden of Cleft Disease Averted by a Large Cleft Charity.

    Science.gov (United States)

    Poenaru, Dan; Lin, Dan; Corlew, Scott

    2016-05-01

    This study attempts to quantify the burden of disease averted through the global surgical work of a large cleft charity, and estimate the economic impact of this effort over a 10-year period. Anonymized data of all primary cleft lip and cleft palate procedures in the Smile Train database were analyzed and disability-adjusted life years (DALYs) calculated using country-specific life expectancy tables, established disability weights, and estimated success of surgery and residual disability probabilities; multiple age weighting and discounting permutations were included. Averted DALYs were calculated and gross national income (GNI) per capita was then multiplied by averted DALYs to estimate economic gains. 548,147 primary cleft procedures were performed in 83 countries between 2001 and 2011. 547,769 records contained complete data available for the study; 58 % were cleft lip and 42 % cleft palate. Averted DALYs ranged between 1.46 and 4.95 M. The mean economic impact ranged between USD 5510 and 50,634 per person. This corresponded to a global economic impact of between USD 3.0B and 27.7B USD, depending on the DALY and GNI values used. The estimated cost of providing these procedures based on an average reimbursement rate was USD 197M (0.7-6.6 % of the estimated impact). The immense economic gain realized through procedures focused on a small proportion of the surgical burden of disease highlights the importance and cost-effectiveness of surgical treatment globally. This methodology can be applied to evaluate interventions for other conditions, and for evidence-based health care resource allocation.

  12. Development and Evaluation of a Blog about Cleft Lip and Cleft Palate and Hearing.

    Science.gov (United States)

    Maximino, Luciana Paula; Zambonato, Ticiana Cristina de Freitas; Picolini-Pereira, Mirela Machado; Castro Corrêa, Camila de; Feniman, Mariza Ribeiro; Blasca, Wanderléia Quinhoneiro

    2018-01-01

    Introduction  Cleft lip and cleft palate can result in impairments in communication, specifically in hearing, making the use of technological resources such as blogs a fundamental guideline for health professionals. Objective  The aim of this study was to prepare and analyze the access to a blog about cleft lip and cleft palate and hearing as a pedagogical tool for health professionals. Methods  The first stage for the development of the blog was the selection of the content that would be addressed and the respective illustrations. The second stage was making the blog available through the WordPress platform, and the third stage included the evaluation of the blog, of the access to the WordPress statistical features, and of the quality of the blog through the Emory questionnaire, which was answered by 75 professionals. Results  The blog, titled "Fissure and Hearing", was developed with the architecture of a digital information environment containing a system of organization, navigation, labeling and search (first stage). The address hosting the blog was: http://fissuraeaudicao.wordpress.com (second stage). The result of the third stage included 56,269 views of the blog from different countries, and Brazil was the country with the highest viewing. Regarding the assessment by the Emory questionnaire, we found that for most of the major issues, the percentages obtained were or equal to 90%, while the analysis of the scales, navigation and structure presented the lowest scores. Conclusion  The blog was developed and enabled greater access to information available on the web about cleft lip and cleft palate and hearing.

  13. [Surgical treatment of first branchial cleft anomaly].

    Science.gov (United States)

    Xiao, Hongjun; Kong, Weijia; Gong, Shusheng; Wang, Jibao; Liu, Shiying; Shi, Hong

    2005-10-01

    To identify the clinical and anatomical presentations and to discuss the guidelines for surgical management of anomalies of the first branchial cleft. Twenty-one patients with first branchial cleft anomalies were treated in our department between January 1994 and December 2004, their clinical data were retrospectively analysed. Surgery was performed on all patients. Among them 13 were males and 8 females, ranging in age from 1.5 to 33 years with an average of 15 years. Anatomically, 3 types of first branchial cleft anomalies were identified: fistulas (n = 17), cysts (n = 2), and fistula combined with cyst (n = 2). Before definitive surgery, soma patients (n = 4) underwent incision and drainage for infection owing to the difficulties in diagnosing this anomaly. Methylthioninium Chloride was used in almost all cases for tracking the fistulous during operation. Wide exposure is necessary in many cases,and a standard parotidectomy incision allows adequate exposure of the anomaly and preservation of the facial nerve. Complete removal without complications depends on a good understanding of regional embryogenesis, an awareness of the different anatomical presentations, and a readiness to identify and protect the facial nerve during resection.

  14. Presurgical Unilateral Cleft Lip Anthropometrics and the Presence of Dental Anomalies.

    Science.gov (United States)

    Antonarakis, Gregory S; Fisher, David M

    2015-07-01

    To investigate associations between cleft lip anthropometrics and dental anomalies in the permanent dentition in unilateral cleft lip patients. Retrospective cross-sectional study. Children with unilateral clefts of the lip, with or without cleft palate. Anthropometric lip measurements, made immediately prior to lip repair, were available for each patient. The presence of dental anomalies in the permanent dentition was assessed radiographically. The presence of associations between anthropometric lip measurements and prevalence rates of different dental anomalies were determined using logistic regression analyses. In the 122 included patients, the cleft lateral lip element was deficient in height in 80% and in transverse length in 84% of patients. Patients with more deficient cleft side lateral lip height and less deficient cleft side lateral lip transverse length were more likely to present with cleft side maxillary lateral incisor agenesis. On the other hand, patients with a less deficient cleft side lateral lip height and more deficient cleft side lateral lip transverse length were more likely to present with a cleft side supernumerary maxillary lateral incisor. When looking only at incomplete clefts, the cleft side lateral lip transverse length deficiency was more predictive of the presence of supernumerary maxillary lateral incisors (P = .030), while for complete clefts, the cleft side lateral lip height deficiency was more predictive of the presence of maxillary lateral incisor agenesis (P = .035). In patients with unilateral clefts, cleft lip anthropometrics have a predictive role in determining the occurrence of dental anomalies.

  15. [A retrospective study of orthodontic treatment of children with clefts].

    Science.gov (United States)

    Brin, I; Bar-Abudi, R; Abed, Y; Ben-Bassat, Y; Harari, D; Zilberman, Y

    2003-04-01

    To evaluate the population of cleft patients treated in a Department of Orthodontics and the types of treatment modalities provided. Demographic, cleft related and treatment related data existing in the patients' files were supplemented by questionnaires. Comparisons were conducted among 3 cleft groups: cleft lip (CL), cleft lip and palate (CLP) and cleft palate (CP). The response rate was 36% (n = 152). The distribution of the patients in the 3 cleft groups, the sidedness, the male predominance and association with additional anomalies were similar to the reports in the literature. Most of the patients were the 3rd born (or more) and were of normal birth weight. Consanguity in the cleft families was at least 2.5 times more prevalent than that of the Israeli population and 30% reported on additional cleft in the family. Low birth weight and additional anomalies were found mainly in the CP group. Orthodontic involvement spanned 3 developmental periods: immediate postnatal presurgical treatment, phase I between the ages 6-8 years and full orthodontic treatment at a later age. Up to the age of 5 years only one lip operation was performed for 60% of the lip-affected children and one palate operation for 65% of the palate affected patients. 1. The distribution of the various cleft-related parameters in this retrospective study was similar to the findings in the literature. 2. The high prevalence of additional anomalies found emphasizes the need for a thorough examination of the cleft babies. 3. Orthodontic treatment was rendered in one and two phase protocols in addition to immediate postnatal pre-surgical intervention.

  16. Craniopharyngioma arising in a Rathke's cleft cyst: case report.

    Science.gov (United States)

    Alomari, Ahmed K; Kelley, Brian J; Damisah, Eyiyemisi; Marks, Asher; Hui, Pei; DiLuna, Michael; Vortmeyer, Alexander

    2015-03-01

    Craniopharyngioma is one of the most common non-glial intracranial tumors of childhood. Its relation to Rathke's cleft cyst (RCC) is controversial, and both lesions have been hypothesized to lie on a continuum of cystic ectodermal lesions of the sellar region. The authors report on a 7-year-old boy who presented with decreased visual acuity, presumably of at least 2 years' duration, and was found to have a 5.2-cm sellar lesion with rim enhancement. Histological examination of the resected lesion showed a mixture of areas with simple RCC morphology with focal squamous metaplasia and areas with typical craniopharyngioma morphology. Immunohistochemical staining with CK20 and Ki 67 differentially highlighted the 2 morphological components. Testing for beta-catenin and BRAF mutations was negative in the craniopharyngioma component, precluding definitive molecular classification. Follow-up imaging showed minimal residual enhancement and the patient will be closely followed up with serial MRI. Given the clinical and histological findings in the case, a progressive transformation of the RCC to craniopharyngioma seems to be the most plausible explanation for the co-occurrence of the 2 lesion types in this patient. An extensive review of previously proposed theories of the relationship between craniopharyngioma and RCC is also presented.

  17. Genetics and Management of the Patient with Orofacial Cleft

    Directory of Open Access Journals (Sweden)

    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.

  18. Adaptive mutation: has the unicorn landed?

    Science.gov (United States)

    Foster, P L

    1998-01-01

    Reversion of an episomal Lac- allele during lactose selection has been studied as a model for adaptive mutation. Although recent results show that the mutations that arise during selection are not "adaptive" in the original sense, the mutagenic mechanism that produces these mutations may nonetheless be of evolutionary significance. In addition, a transient mutational state induced in a subpopulation of starving cells could provide a species with a mechanism for adaptive evolution. PMID:9560365

  19. Adaptive mutation: has the unicorn landed?

    Science.gov (United States)

    Foster, P L

    1998-04-01

    Reversion of an episomal Lac- allele during lactose selection has been studied as a model for adaptive mutation. Although recent results show that the mutations that arise during selection are not "adaptive" in the original sense, the mutagenic mechanism that produces these mutations may nonetheless be of evolutionary significance. In addition, a transient mutational state induced in a subpopulation of starving cells could provide a species with a mechanism for adaptive evolution.

  20. Analysis of PRICKLE1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformations

    Science.gov (United States)

    Yang, Tian; Jia, Zhonglin; Bryant-Pike, Whitney; Chandrasekhar, Anand; Murray, Jeffrey C; Fritzsch, Bernd; Bassuk, Alexander G

    2014-01-01

    Palate development is shaped by multiple molecular signaling pathways, including the Wnt pathway. In mice and humans, mutations in both the canonical and noncanonical arms of the Wnt pathway manifest as cleft palate, one of the most common human birth defects. Like the palate, numerous studies also link different Wnt signaling perturbations to varying degrees of limb malformation; for example, shortened limbs form in mutations of Ror2,Vangl2looptail and, in particular, Wnt5a. We recently showed the noncanonical Wnt/planar cell polarity (PCP) signaling molecule Prickle1 (Prickle like 1) also stunts limb growth in mice. We now expanded these studies to the palate and show that Prickle1 is also required for palate development, like Wnt5a and Ror2. Unlike in the limb, the Vangl2looptail mutation only aggravates palate defects caused by other mutations. We screened Filipino cleft palate patients and found PRICKLE1 variants, both common and rare, at an elevated frequency. Our results reveal that in mice and humans PRICKLE1 directs palate morphogenesis; our results also uncouple Prickle1 function from Vangl2 function. Together, these findings suggest mouse and human palate development is guided by PCP-Prickle1 signaling that is probably not downstream of Vangl2. PMID:24689077

  1. Rare craniofacial clefts in Ibadan | Iyun | Nigerian Journal of Plastic ...

    African Journals Online (AJOL)

    Introduction: Congenital craniofacial clefts are anatomical distortions of the face and cranium with deficiencies of excess of tissue in a linear pattern. The exact incidence of craniofacial clefts is unknown because cases are rare and series tend to be small. The aim of this study is to document our experience with congenital ...

  2. Teaching Palatoplasty Using a High-Fidelity Cleft Palate Simulator.

    Science.gov (United States)

    Cheng, Homan; Podolsky, Dale J; Fisher, David M; Wong, Karen W; Lorenz, H Peter; Khosla, Rohit K; Drake, James M; Forrest, Christopher R

    2018-01-01

    Cleft palate repair is a challenging procedure for cleft surgeons to teach. A novel high-fidelity cleft palate simulator has been described for surgeon training. This study evaluates the simulator's effect on surgeon procedural confidence and palatoplasty knowledge among learners. Plastic surgery trainees attended a palatoplasty workshop consisting of a didactic session on cleft palate anatomy and repair followed by a simulation session. Participants completed a procedural confidence questionnaire and palatoplasty knowledge test immediately before and after the workshop. All participants reported significantly higher procedural confidence following the workshop (p cleft palate surgery experience had higher procedural confidence before (p cleft palate experience did not have higher mean baseline test scores than those with no experience (30 percent versus 28 percent; p > 0.05), but did have significantly higher scores after the workshop (61 percent versus 35 percent; p cleft palate simulator as a training tool to teach palatoplasty. Improved procedural confidence and knowledge were observed after a single session, with benefits seen among trainees both with and without previous cleft experience.

  3. COMPREHENSIVE EVALUATIVE TECHNIQUES FOR THE CHILD WITH A CLEFT PALATE.

    Science.gov (United States)

    BENSEN, JACK F.; WHITE, FRAZER D.

    A MULTIDISCIPLINARY APPROACH TO CHILDREN WITH CLEFT PALATES IS DESCRIBED. THE SOUTH FLORIDA CLEFT PALATE CLINIC, REPRESENTING NINE PROFESSIONAL SPECIALTIES, MEETS WEEKLY TO SEE SIX OR SEVEN CASES. SPEECH PERFORMANCE IS RECORDED ON SIX DIAGNOSTIC, DATA COLLECTING FORMS WHICH PROVIDE A BASIS FOR RECORDING CLINICAL JUDGMENTS. PROGNOSIS AND…

  4. We can predict postpalatoplasty velopharyngeal insufficiency in cleft palate patients.

    Science.gov (United States)

    Leclerc, Jacques E; Godbout, Audrey; Arteau-Gauthier, Isabelle; Lacour, Sophie; Abel, Kati; McConnell, Elisa-Maude

    2014-02-01

    To find an anatomical measurement of the cleft palate (or a calculated parameter) that predicts the occurrence of velopharyngeal insufficiency (VPI) after palatal cleft repair. Retrospective cohort study. Charts were reviewed from cleft palate patients who underwent palatoplasty by the Von Langenbeck technique for isolated cleft palate or Bardach two-flap palatoplasty for cleft lip-palate. Seven anatomical cleft parameters were prospectively measured during the palatoplasty procedure. Three blinded speech-language pathologists retrospectively scored the clinically assessed VPI at 4 years of age. The recommendation of pharyngoplasty was also used as an indicator of VPI. From 1993 to 2008, 67 patients were enrolled in the study. The best predicting parameter was the ratio a/(30 - b1), in which a is defined as the posterior gap between the soft palate and the posterior pharyngeal wall and b1 is the width of the cleft at the hard palate level. An a/(30 - b1) ratio >0.7 to 0.8 is associated with a higher risk of developing VPI (relative risk = 2.2-5.1, sensitivity = 72%-81%, P cleft at the hard palate level and the posterior gap between the soft palate and the posterior pharyngeal wall were found to be the most significant parameters in predicting VPI. The best correlation was obtained with the ratio a/(30 - b1). 4. Copyright © 2013 The American Laryngological, Rhinological and Otological Society, Inc.

  5. THIRD BRANCHIAL CLEFT CYST PRESENTATION IN ADULTHOOD: A CASE REPORT

    OpenAIRE

    Srinjeeta Garg; Yuvraj Patil; Karan Vayangankar; Adip Shetty; Haritosh Kamalakar Velankar

    2014-01-01

    Third branchial cleft cysts (BCCs) are rare entities that represent abnormal persistence of the branchial apparatus. Most cases of third branchial cleft cysts (BCCs) are diagnosed in childhood and show a marked preference for the left side. However, here we present this rare anomaly in a 40 year old female which presented as a fast growing swelling in adulthood.

  6. Management of cleft lip and palate in Nigeria: A survey ...

    African Journals Online (AJOL)

    Background: Clefts of the lip and/or palate are the most common congenital craniofacial defects and second only to club foot among all congenital anomalies. The management of this condition is resource intensive due to the multidimensional needs. This survey was carried out to ascertain the current state of cleft ...

  7. Perioperative adverse airway events in cleft lip and palate repair ...

    African Journals Online (AJOL)

    Background: Airway-related problems account for the majority of anaesthetic morbidity in paediatric anaesthesia, but more so for cleft lip and palate repair. The aim of this study was to assess the frequency, pattern, management and outcome of adverse airway events during the perioperative period in cleft lip and palate ...

  8. Transverse facial cleft: A series of 17 cases

    Directory of Open Access Journals (Sweden)

    L K Makhija

    2011-01-01

    Full Text Available Introduction: Transverse facial cleft (Tessier type 7 or congenital macrostomia is a rare congenital anomaly seldom occurring alone and is frequently associated with deformities of the structures developing from the first and second branchial arches. The reported incidence of No. 7 cleft varies from 1 in 60,000 to 1 in 300,000 live births. Material and Methods: Seventeen patients of transeverse facial cleft who presented to us in last 5 years were included in the study. Their history regarding familial and environmental predispositions was recorded. The cases were analysed on basis of sex, laterality, severity, associated anomalies and were graded according to severity. They were operated by z plasty technique and were followed up for 2 years to look for effectiveness of the technique and its complications. Result: Out of the seventeen patients of transverse cleft, none had familial predilection or any environmental etiology like antenatal radiological exposure or intake of drugs of teratogenic potential. Most of the patients (9/17 were associated with hemifacial microsomia and 1 patient was associated with Treacher Colin′s Syndrome. Out of the 6 cases of Grade I clefts, 4 were isolated transverse clefts and of the 10 patients of Grade II clefts, 7 were associated with hemifacial microsomia. We encountered only one case of Grade III Transverse Cleft which was not only associated with hemifacial microsomia but also had cardiac anomaly. Out of the17 cases, 15 were operated and in most of them the outcome was satisfactory.

  9. The nose in children with unilateral cleft lip and palate

    NARCIS (Netherlands)

    Verwoerd, C. D.; Mladina, R.; Nolst Trenité, G. J.; Pigott, R. W.

    1995-01-01

    Surgeons and orthodontists are still challenged to achieve 'better' noses for children with a unilateral cleft or lip, alveoulus and palate (UCLP). Various aspects are discussed: infant anatomy and later changes, developmental mechanics, cleft syndrome in animals with surgically produced facial

  10. Feeding Techniques for Children Who Have Cleft Lip and Palate.

    Science.gov (United States)

    Klein, Marsha Dunn

    This pamphlet on feeding techniques for children who have cleft lip and palate emphasizes the role of the parent as part of a team involving many specialists. The pamphlet begins with explanations of complete and incomplete separations of the lip, unilateral and bilateral cleft lips, corrective surgical procedures, etc. The importance of weight…

  11. Awareness, knowledge and attitude on cleft lip and palate among ...

    African Journals Online (AJOL)

    2012-11-09

    Nov 9, 2012 ... negative beliefs and attitudes toward the condition. The objective of this ... Conclusion: There is need for increased public enlightenment/health education to increase awareness and subsequently ... The parent's feelings about their child's cleft defect ..... Gene/environment causes of cleft lip and/or palate.

  12. Presurgical cleft lip and palate orthopedics: an overview

    Directory of Open Access Journals (Sweden)

    Alzain I

    2017-05-01

    Full Text Available Ibtesam Alzain,1 Waeil Batwa,2 Alex Cash,3 Zuhair A Murshid2 1Pediatric Dentistry, 2Orthodontic Department, Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia; 3Cleft Lip and Palate Orthodontics, Queen Victoria NHS Foundation Trust, South Thames Cleft Service, London, UK Abstract: Patients with cleft lip and/or palate go through a lifelong journey of multidisciplinary care, starting from before birth and extending until adulthood. Presurgical orthopedic (PSO treatment is one of the earliest stages of this care plan. In this paper we provide a review of the PSO treatment. This review should help general and specialist dentists to better understand the cleft patient care path and to be able to answer patient queries more efficiently. The objectives of this paper were to review the basic principles of PSO treatment, the various types of techniques used in this therapy, and the protocol followed, and to critically evaluate the advantages and disadvantages of some of these techniques. In conclusion, we believe that PSO treatment, specifically nasoalveolar molding, does help to approximate the segments of the cleft maxilla and does reduce the intersegment space in readiness for the surgical closure of cleft sites. However, what we remain unable to prove equivocally at this point is whether the reduction in the dimensions of the cleft presurgically and the manipulation of the nasal complex benefit our patients in the long term. Keywords: presurgical orthopedic, nasoalveolar molding, cleft lip and palate

  13. Smile Train: The ascendancy of cleft care in India

    Directory of Open Access Journals (Sweden)

    Singh Subodh

    2009-10-01

    Full Text Available Though India has an estimated population of one million untreated cleft patients, facilities for its treatment have been limited and are not evenly distributed across the country. Furthermore, a paucity of committed cleft surgeons in fewer hospitals to provide quality surgical treatment to these patients, poverty, illiteracy, superstitions and poor connectivity in some remote regions severely limit the chances of an average cleft lip patient born in India from receiving rational and effective comprehensive treatment for his/her malady. The Smile Train Project with its singular focus on cleft patients started its philanthropic activities in India in the year 2000. It made hospitals and included clefts surgeon equal partners in this programme and helped them treat as many cleft patients as they possibly could. The Project encouraged improvement of the training and infrastructure in various centres across the length and breadth of the region. The Project received an unprecedented success in terms of growth of number of centres, cleft surgeons and quantum of cleft patients reporting for treatment. The G S Memorial Hospital is one such partner hospital. It started innovative outreach programmes and took a holistic view of the needs of these patients and their families. With the support of the Smile Train, it has not only succeeded in providing treatment to more than 14,500 patients in 5 years, but has also devised innovative outreach programmes and seamlessly incorporated salient changes in the hospital system to suit the needs of the target population.

  14. The nose in children with unilateral cleft lip and palate

    NARCIS (Netherlands)

    C.D.A. Verwoerd (Carel); R. Mladina (R.); G.J. Nolst-Trenité (Gilbert J.); R.W. Pigott (R.)

    1995-01-01

    textabstractSurgeons and orthodontists are still challenged to achieve ‘better’ noses for children with a unilateral cleft or lip, alveolus and palate (UCLP). Various aspects are discussed: infant anatomy and later changes, developmental mechanics, cleft syndrome in animals with surgically produced

  15. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon

    Energy Technology Data Exchange (ETDEWEB)

    Edwards, S.J.; Gladwin, A.J.; Dixon, M.J. [Univ. of Manchester (United Kingdom)

    1997-03-01

    Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCS locus has been mapped to human chromosome 5q31.3-32 and the mutated gene identified. In the current investigation, 25 previously undescribed mutations, which are spread throughout the gene, are presented. This brings the total reported to date to 35, which represents a detection rate of 60%. Of the mutations that have been reported to date, all but one result in the introduction of a premature-termination codon into the predicted protein, treacle. Moreover, the mutations are largely family specific, although a common 5-bp deletion in exon 24 (seven different families) and a recurrent splicing mutation in intron 3 (two different families) have been identified. This mutational spectrum supports the hypothesis that TCS results from haploin-sufficiency. 49 refs., 4 figs., 3 tabs.

  16. TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma

    NARCIS (Netherlands)

    M. Remke (Marc); E.A. Ramaswamy; M. Peacock (Munro); D.J.H. Shih (David J.); C. Koelsche (Christian); P.A. Northcott (Paul A.); N. Hill (Nadia); S. Cavalli (Silvia); M. Kool (Marcel); X. Wang (Xin); S. Mack (Stephen); M. Barszczyk (Mark); A.S. Morrissy (A. Sorana); X. Wu (Xiaochong); S. Agnihotri (Sameer); P. Luu (Phan); D. Jones (David); L. Garzia (Livia); A.M. Dubuc (Adrian); N. Zhukova (Nataliya); R. Vanner (Robert); J.M. Kros (Johan); P.J. French (Pim); E.G. van Meir (Erwin); R. Vibhakar (Rajeev); K. Zitterbart (Karel); J.A. Chan (Jennifer); L. Bognár (László); A. Klekner (Almos); B. Lach (Boleslaw); S. Jung (Shin); F. Saad (Fred); L.M. Liau (Linda); S. Albrecht (Steffen); M. Zollo (Maurizio); M.K. Cooper (Michael); R.C. Thompson (Reid); O. Delattre (Olivier); F. Bourdeaut (Franck); F.F. Doz (François); M. Garami (Miklós); P. Hauser (Peter); C.G. Carlotti (Carlos); T.E. Van Meter (Timothy); L. Massimi (Luca); D. Fults (Daniel); L.W. Pomeroy (Laura); T. Kumabe (Toshiro); Y.S. Ra (Young Shin); J.R. Leonard (Jeffrey); S.K. Elbabaa (Samer); J. Mora (Jaume); J.B. Rubin (Joshua); Y.-J. Cho (Yoon-Jae); R.E. McLendon (Roger); D.D. Bigner (Darell); C.G. Eberhart (Charles); M. Fouladi (Maryam); R.J. Wechsler-Reya (Robert); R. Faria (Rui); S.E. Croul (Sidney); A. Huang (Anding); E. Bouffet (Eric); C.E. Hawkins (Cynthia); M. Dirks (Maaike); W.A. Weiss (William); U. Schüller (Ulrich); A. Pollack (Aaron); P. Rutkowski (Piotr); D. Meyronet (David); A. Jouvet (Anne); M. Fèvre-Montange (Michelle); N. Jabado (Nada); M. Perek-Polnik (Marta); W.A. Grajkowska (Wieslawa); S.-K. Kim (Seung-Ki); J.T. Rutka (James); E. Malkin (Elissa); U. Tabori (Uri); S.M. Pfister (Stefan); A. Korshunov (Andrey); A. von Deimling (Andreas); M.D. Taylor (Michael)

    2013-01-01

    textabstractTelomerase reverse transcriptase (TERT) promoter mutations were recently shown to drive telomerase activity in various cancer types, including medulloblastoma. However, the clinical and biological implications of TERT mutations in medulloblastoma have not been described. Hence, we sought

  17. 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

  18. Craniofacial morphology in unoperated infants with isolated cleft palate. A cephalometric analysis in three projections

    DEFF Research Database (Denmark)

    Hermann, N.V.; Kreiborg, S.; Jensen, B.L.

    58th Annual Meeting of the American Cleft Palate-Craniofacial Association, Minneapolis, Craniofacial morphology, unoperated infants, isolated cleft palate, cephalometric analysis, three projections......58th Annual Meeting of the American Cleft Palate-Craniofacial Association, Minneapolis, Craniofacial morphology, unoperated infants, isolated cleft palate, cephalometric analysis, three projections...

  19. Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes

    DEFF Research Database (Denmark)

    Carlson, Jenna C; Standley, Jennifer; Petrin, Aline

    2017-01-01

    Orofacial clefts (OFCs) are common, complex birth defects with extremely heterogeneous phenotypic presentations. Two common subtypes-cleft lip alone (CL) and CL plus cleft palate (CLP)-are typically grouped into a single phenotype for genetic analysis (i.e., CL with or without cleft palate, CL/P)...

  20. De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.

    Science.gov (United States)

    Fujita, Atsushi; Isidor, Bertrand; Piloquet, Hugues; Corre, Pierre; Okamoto, Nobuhiko; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Miyake, Noriko; Matsumoto, Naomichi

    2016-09-01

    MEIS2 aberrations are considered to be the cause of intellectual disability, cleft palate and cardiac septal defect, as MEIS2 copy number variation is often observed with these phenotypes. To our knowledge, only one nucleotide-level change-specifically, an in-frame MEIS2 deletion-has so far been reported. Here, we report a female patient with a de novo nonsense mutation (c.611C>G, p.Ser204*) in MEIS2. She showed severe intellectual disability, moderate motor/verbal developmental delay, cleft palate, cardiac septal defect, hypermetropia, severe feeding difficulties with gastro-esophageal reflux and constipation. By reviewing this patient and previous patients with MEIS2 point mutations, we found that feeding difficulty with gastro-esophageal reflux appears to be one of the core clinical features of MEIS2 haploinsufficiency, in addition to intellectual disability, cleft palate and cardiac septal defect.

  1. Cross-linguistic perspectives on speech assessment in cleft palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth; Henningsson, Gunilla

    2012-01-01

    . Finally, the influence of different languages on some aspects of language acquisition in young children with cleft palate is presented and discussed. Until recently, not much has been written about cross linguistic perspectives when dealing with cleft palate speech. Most literature about assessment......This chapter deals with cross linguistic perspectives that need to be taken into account when comparing speech assessment and speech outcome obtained from cleft palate speakers of different languages. Firstly, an overview of consonants and vowels vulnerable to the cleft condition is presented. Then......, consequences for assessment of cleft palate speech by native versus non-native speakers of a language are discussed, as well as the use of phonemic versus phonetic transcription in cross linguistic studies. Specific recommendations for the construction of speech samples in cross linguistic studies are given...

  2. Possible Estrogen Dependency in the Pathogenesis of Branchial Cleft Cysts

    Directory of Open Access Journals (Sweden)

    Jan D. Raguse

    2017-01-01

    Full Text Available Background. Even though branchial cleft cysts are currently accepted as a congenital anomaly, there is often a long delay until clinical presentation; branchial cleft cysts classically appear in the second to fourth decade of life. Our observation of their occurrence in three pregnant women encouraged us to contemplate a possible hormonal influence. Methods. Immunohistological analysis was performed for the evaluation of the estrogen receptor alpha (ERα in paraffin-embedded tissue specimens of 16 patients with a diagnosis of branchial cleft cyst, with three of them being pregnant. Results. Expression of ERα was detected within epithelial cells only in branchial cleft cysts in pregnant females; moreover, higher growth fractions (Ki-67/Mib1 were found. Conclusion. The fact that the estrogen receptor was expressed only in pregnant women, in contrast to 13 investigated cases, may suggest that the high level of estrogen in pregnancy is a possible explanation for the spontaneous growth of branchial cleft cysts.

  3. Possible Estrogen Dependency in the Pathogenesis of Branchial Cleft Cysts.

    Science.gov (United States)

    Raguse, Jan D; Anagnostopoulos, Ioannis; Doll, Christian; Heiland, Max; Jöhrens, Korinna

    2017-01-01

    Even though branchial cleft cysts are currently accepted as a congenital anomaly, there is often a long delay until clinical presentation; branchial cleft cysts classically appear in the second to fourth decade of life. Our observation of their occurrence in three pregnant women encouraged us to contemplate a possible hormonal influence. Immunohistological analysis was performed for the evaluation of the estrogen receptor alpha (ER α ) in paraffin-embedded tissue specimens of 16 patients with a diagnosis of branchial cleft cyst, with three of them being pregnant. Expression of ER α was detected within epithelial cells only in branchial cleft cysts in pregnant females; moreover, higher growth fractions (Ki-67/Mib1) were found. The fact that the estrogen receptor was expressed only in pregnant women, in contrast to 13 investigated cases, may suggest that the high level of estrogen in pregnancy is a possible explanation for the spontaneous growth of branchial cleft cysts.

  4. [Recurrent neck abscess due to a branchial cleft remnant].

    Science.gov (United States)

    Kruijff, Schelto; Mastboom, Walter J; Vriens, Menno R; Sidhu, Stan B; Delbridge, Leigh W

    2013-01-01

    Abscesses arising from a third or fourth branchial cleft remnant are uncommon clinical entities and are often not recognised in a timely manner. In a 33-year-old female patient with a recurrent abscess in the left side of her neck, the cause turned out to be a fistula in the third branchial cleft remnant. She was treated initially with antibiotics and prednisone without adequate results. When the abscess was finally surgically drained, she became very ill and was admitted to the ICU with sepsis and multiple organ failure. She was discharged from hospital after six weeks. Four months later, a third-branchial cleft remnant was found during pharyngoscopy, immediately after which the cleft remnant fistula was excised and an ipsilateral hemi-thyroidectomy was performed. In young patients with recurring peri-thyroidal abscesses, a branchial cleft remnant should be considered a causative factor; this could avoid high morbidity and a delay in the appropriate treatment.

  5. 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.

  6. Cleft lip with or without cleft palate and dermatoglyphic asymmetry: evaluation of a Chinese population.

    Science.gov (United States)

    Neiswanger, K; Cooper, M E; Weinberg, S M; Flodman, P; Keglovits, A Bundens; Liu, Y; Hu, D N; Melnick, M; Spence, M A; Marazita, M L

    2002-08-01

    To determine if Chinese individuals with non syndromic cleft lip with or without cleft palate (CL/P) display more dermatoglyphic asymmetry than unaffected relatives or controls. Case-control study with two control groups (genetically related and unrelated). A total of 500 CL/P probands from Shanghai, China, 421 unaffected relatives, and 66 controls of Chinese heritage. Finger and palm prints were collected, and pattern frequencies, total ridge counts (TRC), and atd angles were calculated. Asymmetry scores between right and left hands were defined for each of the three dermatoglyphic measures. Probands' asymmetry scores were compared statistically with the scores of unaffected relatives and controls. In general, the probands' asymmetry scores for TRC and atd angle did not differ significantly from the scores of either unaffected relatives or controls. However, probands with a positive family history of clefting showed significantly more asymmetry in their pattern types than either probands without a family history, unaffected relatives or controls. These results suggest that a unique genetic mechanism of developmental instability may obtain in CL/P individuals with a positive family history of clefting.

  7. #Cleft: The use of Social Media Amongst Parents of Infants with Clefts.

    Science.gov (United States)

    Khouri, Joseph S; McCheyne, Melisande J; Morrison, Clinton S

    2018-01-01

    Introduction Many societies and organizations are using social media to reach their target audience. The extent to which parents of patients with craniofacial anomalies use social media has yet to be determined. The goal of this study is to characterize and describe the use of social media by the parents of children with cleft lip and palate as it pertains to the care of their child. Materials and Methods Parents or guardian of all patients presenting for initial consultation regarding a child's congenital cleft anomaly were contacted by phone or mail to complete a survey regarding their use of social media vis-à-vis their child's cleft anomaly. Participants were asked to answer a 19-question survey. Results Thirty-two families were contacted and 25 surveys were completed. Ninety-two percent of respondents used social media to learn about their child's diagnosis. Facebook (76%) and blogs (24%) were the most commonly accessed social media outlets, followed by Instagram (8%). Education about the diagnosis and treatment of cleft pathology (87%) was the most common reason for accessing social media, followed by companionship and support (56%), and advice about perioperative care (52%). Almost half (43%) of parents used social media to obtain information on their caregiver and treatment team, and 26% of parents used information gained on social media to guide their decision on where to seek care. Conclusion Social media is a readily available resource, one that will certainly shape the experiences of our patients and families for years to come.

  8. Dental anomalies in different cleft groups related to neural crest developmental fields contributes to the understanding of cleft aetiology

    DEFF Research Database (Denmark)

    Riis, Louise Claudius; Kjær, Inger; Mølsted, Kirsten

    2014-01-01

    OBJECTIVE: To analyze dental deviations in three cleft groups and relate findings to embryological neural crest fields (frontonasal, maxillary, and palatal). The overall purpose was to evaluate how fields are involved in different cleft types. DESIGN: Retrospective audit of clinical photographs...

  9. Lateral cervical cleft: a previously unreported anomaly resulting from incomplete disappearance of the second pharyngeal (branchial) cleft.

    Science.gov (United States)

    Gürsoy, M H; Gedikoğlu, G; Tanyel, F C

    1999-03-01

    The authors present a 2-year-old boy with a skin defect located in the right lateral side of the neck. They suggest the defect is a partial failure of disappearance of the second pharyngeal (branchial) cleft and propose a name of lateral cervical cleft.

  10. Craniofacial morphology in complete unilateral cleft lip and palate patients consecutively treated with 1-stage repair of the cleft.

    NARCIS (Netherlands)

    Fudalej, P.S.; Surowiec, Z.; Offert, B.; Dudkiewicz, Z.; Katsaros, C.

    2010-01-01

    OBJECTIVE: To retrospectively evaluate the craniofacial morphology of children with a complete unilateral cleft lip and palate treated with a 1-stage simultaneous cleft repair performed in the first year of life. METHODS: Cephalograms and extraoral profile photographs of 61 consecutively treated

  11. 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

  12. Maxillary arch width in unoperated adult bilateral cleft lip and alveolus and complete bilateral cleft lip and palate.

    NARCIS (Netherlands)

    Latief, B.S.; Lekkas, C.; Kuijpers, M.A.R.

    2010-01-01

    OBJECTIVES: To study maxillary arch width in adult patients with bilateral cleft lip and alveolus (BCLA) or with complete bilateral cleft lip and palate (BCLP), who have not had any surgery. SETTING AND SAMPLING POPULATION: Eighteen patients with BCLA, 13 patients with BCLP, and 24 controls from

  13. Presurgical nasoalveolar moulding in unilateral cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Mohammed Zuhaib

    2016-01-01

    Full Text Available Context: Presurgical nasoalveolar moulding (PNAM is a non-surgical method of reshaping the cleft lip, alveolus, palate and the nose to minimize the severity of the cleft deformity, before primary cheiloplastyand palatoplasty. In this context, PNAM proves to be an invaluable asset in the management of unilateral cleft lip and palate. Aims: The study was conducted to evaluate the effi cacy of PNAM in the management of unilateral cleft lip and palate with the following objectives: (1 To assess and compare the degree of reduction in the size of cleft palate and alveolus (pre-PNAM and post-PNAM. (2 To evaluate and compare the improvement in columellar length and correction of columellar deviation (pre-PNAM and post-PNAM. (3 To assess the changes in the position of the alar base and the alar cartilages. Settings and Design: Prospective study. Subjects and Methods: A prospective study consisting of, which included 20 patients with complete unilateral cleft lip and palate was conducted. The age at the start of PNAM treatment of the infants ranged from 2 to 44 days of age reporting to our institute between December 2011 and August 2013. All the patients underwent PNAM therapy before primary cheiloplasty at 6 months of age; clinical parameters were assessed pre- and post-therapy using photographs and dental study models of the maxilla. Statistical Analysis Used: Student's t-test for paired comparisons. Results: Results of the study showed a promising reduction in the cleft size before the surgery, signifi cant improvement in nasal symmetry, including the columellar length on the cleft side. Conclusions: PNAM is a valuable adjunct to our surgical armamentarium in dealing with the challenges of primary closure of unilateral cleft lip and palate thereby enhancing the overall surgical outcome. The advantages of this method include the simplicity of the procedure and improving the quality of surgical repair, particularly in obtaining tension free muscle

  14. Two-phase orthodontic treatment in a unilateral cleft lip and palate patient with 1-year follow-up results

    Directory of Open Access Journals (Sweden)

    Prashant M Dhole

    2017-01-01

    Full Text Available Treatment of a patient with cleft lip and palate can be challenging. A 10-year and 10-month-old girl presented with uneven and crowded teeth. She had unilateral cleft lip and palate on left side for which she had undergone primary lip repair and palatoplasty when she was younger. On examination, she had concave facial appearance, crossbite of upper arch with reverse overjet of 2 mm, wits appraisal of 6 mm and impacted 23. She was treated with two-phase orthodontic treatment; growth modification appliances followed by fixed mechanotherapy. Total treatment time was 5 years. 1-year follow-up shows that results have been stable with good facial aesthetics and functional occlusion.

  15. Three novel and two known androgen receptor gene mutations ...

    Indian Academy of Sciences (India)

    with androgen insensitivity syndrome in sex-reversed XY female patients. BALACHANDRAN .... Three novel AR gene mutations associated with AIS in XY sex-reversed females. Ta b le. 1 . ( contd. ) ..... disease, 1st edition. Springer Science + ...

  16. Cause analysis, prevention, and treatment of postoperative restlessness after general anesthesia in children with cleft palate

    OpenAIRE

    Xu, Hao; Mei, Xiao-Peng; Xu, Li-Xian

    2017-01-01

    Cleft palate is one of the most common congenital malformations of the oral and maxillofacial region, with an incidence rate of around 0.1%. Early surgical repair is the only method for treatment of a cleft lip and palate. However, because of the use of inhalation anesthesia in children and the physiological characteristics of the cleft palate itself combined with the particularities of cleft palate surgery, the incidence rate of postoperative emergence agitation (EA) in cleft palate surgery ...

  17. The occurrence of a branchial cleft cyst in the anterior mediastinum: a case report

    International Nuclear Information System (INIS)

    Park, Seong Hoon; Kim, Seong Hoon; Shin, Hyun Woong; Jo, Hyun Chul; Son, Mi Yung; Gong, Joon Hyuk

    2008-01-01

    Branchial cleft cysts and branchial anomalies develop from the branchial cleft apparatus that persists after fetal development. The most common anatomical site for the occurrence of branchial cleft cysts is in the cervical area, generally anterior to the sternomastoid muscle in the upper or middle portion of the neck. A mediastinal branchial cleft cyst is extremely rare and few cases have been reported. We report the case of branchial cleft cyst found in the anterior mediastinum with literature review

  18. The occurrence of a branchial cleft cyst in the anterior mediastinum: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Seong Hoon; Kim, Seong Hoon; Shin, Hyun Woong; Jo, Hyun Chul; Son, Mi Yung; Gong, Joon Hyuk [Daegu Fatima Hospital, Daegu (Korea, Republic of)

    2008-08-15

    Branchial cleft cysts and branchial anomalies develop from the branchial cleft apparatus that persists after fetal development. The most common anatomical site for the occurrence of branchial cleft cysts is in the cervical area, generally anterior to the sternomastoid muscle in the upper or middle portion of the neck. A mediastinal branchial cleft cyst is extremely rare and few cases have been reported. We report the case of branchial cleft cyst found in the anterior mediastinum with literature review.

  19. The Epidemiology of Cleft Lip and Palate in Canada, 1998 to 2007.

    Science.gov (United States)

    Matthews, Jennifer L K; Oddone-Paolucci, Elizabeth; Harrop, Robertston A

    2015-07-01

    To examine the birth prevalence, gender distribution, and pattern of surgical intervention for clefts in Canada (1998 to 2007). Also to highlight the difficulties associated with studying the epidemiology of clefts using the current data collection mechanisms. Epidemiologic data acquired from the Canadian Institute for Health Information. Population-based study in Canada 1998 to 2007. All live births with an International Classification of Diseases (9th or 10th revision) diagnostic code for cleft palate or for cleft lip with or without cleft palate or with a surgical intervention code for repair of cleft lip or cleft palate. Birth prevalence, gender distribution, and pattern of surgical intervention. There were 3,015,325 live births in Canada (1998 to 2007). The mean birth prevalence was 0.82 per 1000 live births for cleft lip with or without cleft palate and 0.58 per 1000 live births for cleft palate. The birth prevalence of cleft lip with or without cleft palate was significantly higher in boys, with a stable boy to girl ratio of 1.75:1. Cleft palate was significantly greater in girls; however, the boy to girl ratio decreased from 0.97:1 in 1998 to 0.59:1 in 2007. The median age of repair in Canada from 1998 to 2007 was 4.7 months for cleft lip and 11.6 months for cleft palate. Thirty percent of patients underwent cleft palate repair after age 1. The birth prevalence of cleft palate and cleft lip with or without cleft palate is stable in Canada. An increasing birth prevalence of cleft palate in girls is suggested. The timing of surgical intervention is consistent with current standards. The challenges associated with collecting these data in Canada are discussed.

  20. [Evaluation and treatment of children's laryngeal clefts].

    Science.gov (United States)

    Chen, C; Tan, L T; Xu, Z M

    2018-01-07

    Objectives: To provide the experience about the diagnostic process and following management, and to discuss the outcome and predictors in children with laryngeal cleft (LC). Methods: A retrospective case study was conducted at an academic children's hospital. Thirty children were diagnosed as laryngeal cleft between January 2016 and April 2017.Airway evaluations were performed using both flexible and rigid endoscopy, and swallowing evaluations were performed using fiberoptic endoscopic examination of swallowing or modified barium swallow. Results: Of 30 cases, 18 were male and 12 were female, ranging in age from birth to 8 years. Two cases were diagnosed as type 0 LC, and they were offered thickened liquid without medication. Throughout follow-up, they remained asymptomatic and showed no respiratory complications. Nineteen children were diagnosed as type Ⅰ LC. Six of them were significantly improved by anti-reflux therapy and feeding instructions. Four children were concomitant with swallowing dysfunction and/or neuromuscular disorders, and they were given a tracheotomy and routine management. Another 4 children were submitted surgical repair when routine treatment failed, and their symptoms were relieved. Five children were concomitant with larygomalacia, and their symptoms were totally ameliorated by supraglottoplasty. Three children were diagnosed as type Ⅱ LC. Two of them received surgical repair and clinically improved, and the rest one was treated by anti-reflux therapy and still under follow-up. Three children were diagnosed as type Ⅲ LC. One of them was underwent surgical repair and clinically improved. Two children were tracheotomized and treated by anti-reflux therapy. Three cases were diagnosed as type Ⅳ LC at birth and no one survived. Conclusions: Laryngeal cleft is a rare congenital anomaly manifesting with a variety of symptoms, including swallowing disorder, aspirations, dyspnea, stridor and hoarseness. Diagnosis and treatment of laryngeal

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  3. Assessing Angle's malocclusion among cleft lip and/or palate patients in Jammu.

    Science.gov (United States)

    Gupta, Akshay; Gupta, Anur; Bhardwaj, Amit; Vikram, S; Gomathi, Ajeetha; Singh, Karanprakash

    2016-04-01

    The study was conducted to examine the patients with abnormalities of cleft lip and/or palate and its association with different types of malocclusion. This descriptive study was done among 168 patients with abnormalities of cleft lip and/or palate. Angle's classification of malocclusion was applied for assessment of occlusion as Class I, Class II, and Class III. The types of oral clefts classification such as cleft lip unilateral and cleft lip bilateral, cleft palate (CP), unilateral cleft lip with palate (UCLP) and bilateral cleft lip with palate (BCLP) was considered. Chi-square test was applied to analyze the data at P clefts patients as cleft lip (81), CP (31), and both cleft lip and palate (53). The occurrence of unilateral cleft lip (44) was maximum among the sample followed by UCLP (39), and bilateral cleft lip (31). Maximum subjects with Class II (10.7%) and Class III (4.9%) malocclusion were seen with unilateral cleft lip deformities. None of the patients with UCLP had Class III malocclusion. Cleft lip was the most commonly observed deformity and high frequency of Class II and III malocclusion was evident. Therefore, patients with such abnormalities should be screened timely.

  4. Growth hormone deficiency in cleft lip and palate patients

    Directory of Open Access Journals (Sweden)

    Shahin AbdollahiFakhim

    2015-11-01

    Full Text Available Introduction: Failure to thrive (FTT is relatively common among cleft patients, most commonly attributed to feeding problems during the first months of life. Close association between midline clefts and pituitary gland abnormalities prompted us to determine the frequency of growth hormone deficiency in cleft patients, which is easily treated. Methods: Any cleft patient with FTT was studied and when the patient’s height was under the 3rd percentile of normal, growth hormone was checked after clonidine administration. Growth hormone was checked before and 30, 60 and 90 minutes after clonidine use. Results: Of 670 patients with cleft lip or palate, 31 patients (4% had some kind of growth retardation according to weight, height or head circumstance. Eighteen patients were under the 3rd percentile of normal height. Growth hormone deficiency was detected in 8 patients out of 18 patients and overall frequency of growth hormone deficiency among cleft patients with growth retardation was 25.8% (8 out of 31. Seven patients of 8 were male whereas one was female and half of the patients were syndromic. Conclusion: Cleft patients have many problems with normal feeding and all kind of support should be provided to achieve near-normal feeding and they should be monitored for normal growth. Any patient with growth retardation, especially height decrease, should be assessed for growth hormone deficiency.

  5. First branchial cleft anomalies: otologic manifestations and treatment outcomes.

    Science.gov (United States)

    Shinn, Justin R; Purcell, Patricia L; Horn, David L; Sie, Kathleen C Y; Manning, Scott C

    2015-03-01

    This study describes the presentation of first branchial cleft anomalies and compares outcomes of first branchial cleft with other branchial cleft anomalies with attention to otologic findings. Case series with chart review. Pediatric tertiary care facility. Surgical databases were queried to identify children with branchial cleft anomalies. Descriptive analysis defined sample characteristics. Risk estimates were calculated using Fisher's exact test. Queries identified 126 subjects: 27 (21.4%) had first branchial cleft anomalies, 80 (63.4%) had second, and 19 (15.1%) had third or fourth. Children with first anomalies often presented with otologic complications, including otorrhea (22.2%), otitis media (25.9%), and cholesteatoma (14.8%). Of 80 children with second branchial cleft anomalies, only 3 (3.8%) had otitis. Compared with children with second anomalies, children with first anomalies had a greater risk of requiring primary incision and drainage: 16 (59.3%) vs 2 (2.5%) (relative risk [RR], 3.5; 95% confidence interval [CI], 2.4-5; Pbranchial cleft anomalies often present with otologic complaints. They are at increased risk of persistent disease, particularly if anomalies lie medial to the facial nerve. They may require ear-specific surgery such as tympanoplasty. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2014.

  6. An unusual presentation of presentation of a branchial cleft cyst.

    Science.gov (United States)

    Vemula, Rahul; Greco, Gregory

    2012-05-01

    Branchial cleft cysts are congenital anomalies that arise from the aberrant embryological development of the branchial apparatus. The location of a branchial cleft cyst is determined by which branchial cleft failed to obliterate during embryological development, with the second branchial cleft cyst being the most commonly recognized lesion. Although the most common location for branchial cleft cysts is between the external auditory canal and the level of the clavicle, the literature does describe unusual locations. We present a case a 15-year-old boy who had an enlarging lesion on his back that had been present since birth. A presumptive radiologic diagnosis of lymphangioma circumscriptum was made. Upon excision of the lesion and pathologic examination, it was determined to be a branchial cleft cyst. The patient had an uneventful postoperative course, and no recurrence was noted after a 2-year follow-up. Our clinical report demonstrates a lesion on the posterior thorax that proved to be a branchial cleft cyst and should always be part of the differential diagnosis for soft tissue masses of the thorax.

  7. 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.

  8. Cervical vertebral maturation of female children with orofacial clefts.

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  10. Clinical photography among African cleft caregivers

    Directory of Open Access Journals (Sweden)

    Peter Babatunde Olaitan

    2011-01-01

    Full Text Available Objective: The aim of this paper is to document the practice of photography among clinicians whose daily work depends and is influenced so much by medical photography. Materials and Methods: Questionnaires documenting the bio data, place of practice, and experience of cleft caregivers with clinical photography were distributed. Knowledge of rules guiding clinical photography and adherence to them were also asked. Types of camera used were documented and knowledge of the value of clinical photographs were also inquired. Results: Plastic surgeons constitute the highest proportion of 27 (38.6%, followed by Oral and Maxillofacial surgeons with 14 (20.0%. Twenty one (30.0% of the respondents always, 21 (30.0% often, 12 (17.1% frequently, while 9 respondents sometimes took photographs of their patients. Suggested uses of clinical photographs included training, 52 (74.3%, education, 51 (72.9%, medicolegal, 44 (62.9% and advertisement, 44 (62.9% among others. Twenty two (31.4% did not know that there were standard guidelines for taking clinical photographs. Twenty three (32.9% of them did not seek the consent of the patients before taking clinical photographs. Conclusion: While the practice of clinical photography is high among African cleft caregivers, there is a need for further education on the issues of standard rules and obtaining consent from patients.

  11. Modeling CMB lensing cross correlations with CLEFT

    Energy Technology Data Exchange (ETDEWEB)

    Modi, Chirag; White, Martin [Department of Physics, University of California, Berkeley, CA 94720 (United States); Vlah, Zvonimir, E-mail: modichirag@berkeley.edu, E-mail: mwhite@berkeley.edu, E-mail: zvlah@stanford.edu [Stanford Institute for Theoretical Physics and Department of Physics, Stanford University, Stanford, CA 94306 (United States)

    2017-08-01

    A new generation of surveys will soon map large fractions of sky to ever greater depths and their science goals can be enhanced by exploiting cross correlations between them. In this paper we study cross correlations between the lensing of the CMB and biased tracers of large-scale structure at high z . We motivate the need for more sophisticated bias models for modeling increasingly biased tracers at these redshifts and propose the use of perturbation theories, specifically Convolution Lagrangian Effective Field Theory (CLEFT). Since such signals reside at large scales and redshifts, they can be well described by perturbative approaches. We compare our model with the current approach of using scale independent bias coupled with fitting functions for non-linear matter power spectra, showing that the latter will not be sufficient for upcoming surveys. We illustrate our ideas by estimating σ{sub 8} from the auto- and cross-spectra of mock surveys, finding that CLEFT returns accurate and unbiased results at high z . We discuss uncertainties due to the redshift distribution of the tracers, and several avenues for future development.

  12. A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1

    Science.gov (United States)

    Yoshida, Yu; Doi, Rieko; Adachi, Kaori; Nanba, Eiji; Kodani, Isamu; Ryoke, Kazuo

    2016-01-01

    Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris pigmentation, and congenital hearing loss. WS1 is caused by mutations in paired box gene 3 (PAX3). We identified a novel PAX3 mutation (c.1107 C>G, p.Ser369Arg) in a Japanese WS1 patient showing abnormal right iris pigmentation, right-sided congenital hearing loss, synophrys, incomplete left cleft lip, and cryptorchidism. PMID:27081571

  13. A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1.

    Science.gov (United States)

    Yoshida, Yu; Doi, Rieko; Adachi, Kaori; Nanba, Eiji; Kodani, Isamu; Ryoke, Kazuo

    2016-01-01

    Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris pigmentation, and congenital hearing loss. WS1 is caused by mutations in paired box gene 3 (PAX3). We identified a novel PAX3 mutation (c.1107 C>G, p.Ser369Arg) in a Japanese WS1 patient showing abnormal right iris pigmentation, right-sided congenital hearing loss, synophrys, incomplete left cleft lip, and cryptorchidism.

  14. A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1

    OpenAIRE

    Yoshida, Yu; Doi, Rieko; Adachi, Kaori; Nanba, Eiji; Kodani, Isamu; Ryoke, Kazuo

    2016-01-01

    Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris pigmentation, and congenital hearing loss. WS1 is caused by mutations in paired box gene 3 (PAX3). We identified a novel PAX3 mutation (c.1107 C>G, p.Ser369Arg) in a Japanese WS1 patient showing abnormal right iris pigmentation, right-sided congenital hearing loss, synophrys, incomplete left cleft lip, and cryptorchidism.

  15. Reproductive patterns among Danish women with oral clefts

    DEFF Research Database (Denmark)

    Yttri, Janne Elin; Christensen, Kaare; Knudsen, Lisbeth

    2011-01-01

    Abstract Objective: The aim of the study was to compare the reproduction pattern among Danish women born with isolated oral clefts with the Danish background population. Design and setting: A nationwide population based historic cohort-study based on three registers: The Danish Facial Cleft...... Register, The Danish Civil Registration System and the Fertility of Women and Couples Dataset. Participants: Through linkages of the registers, number of children and the exact age at childbirth of all Danish women born with an oral cleft during 1950 through 1988 (N=1,931) were obtained. These data were...

  16. Branchial cleft cyst: A case report and review of literature.

    Science.gov (United States)

    Chavan, Surekha; Deshmukh, Revati; Karande, Prasad; Ingale, Yeshwant

    2014-01-01

    First branchial cleft anomaly is a rare disease of the head and neck. Because of its rarity, first branchial cleft anomaly is often misdiagnosed and results in inappropriate management. In this article, we present a case of type II first branchial cleft anomaly. A middle-aged woman who had suffered from swelling on lower jaw visited our department with the chief complaint of a swelling. She underwent complete excision of the lesion with preservation of the facial nerve. The patient recovered well and had no recurrence at 1-year of follow up.

  17. Third branchial cleft anomaly presenting as a retropharyngeal abscess.

    Science.gov (United States)

    Huang, R Y; Damrose, E J; Alavi, S; Maceri, D R; Shapiro, N L

    2000-08-31

    Branchial cleft anomalies are congenital developmental defects that typically present as a soft fluctuant mass or fistulous tract along the anterior border of the sternocleidomastoid muscle. However, branchial anomalies can manifest atypically, presenting diagnostic and therapeutic challenges. Error or delay in diagnosis can lead to complications, recurrences, and even life-threatening emergencies. We describe a case of an infected branchial cleft cyst that progressed to a retropharyngeal abscess in a 5-week-old female patient. The clinical, radiographic, and histologic findings of this rare presentation of branchial cleft cyst are discussed.

  18. Duplicated facial nerve trunk with a first branchial cleft cyst.

    Science.gov (United States)

    Hinson, Drew; Poteet, Perry; Bower, Charles

    2014-03-01

    First branchial cleft anomalies are rare and their various anatomical relationships to the facial nerve have been described. We encountered a 15-year-old female with a type II first branchial cleft cyst presenting as a right neck mass that we found during surgical excision to transverse two main facial nerve trunks. To our knowledge, this is the first reported case of a first branchial cleft anomaly in conjunction with a duplicated facial nerve trunk. © 2013 The American Laryngological, Rhinological and Otological Society, Inc.

  19. Cleft Palate Fistula Closure Utilizing Acellular Dermal Matrix.

    Science.gov (United States)

    Emodi, Omri; Ginini, Jiriys George; van Aalst, John A; Shilo, Dekel; Naddaf, Raja; Aizenbud, Dror; Rachmiel, Adi

    2018-03-01

    Fistulas represent failure of cleft palate repair. Secondary and tertiary fistula repair is challenging, with high recurrence rates. In the present retrospective study, we review the efficacy of using acellular dermal matrix as an interposition layer for cleft palate fistula closure in 20 consecutive patients between 2013 and 2016. Complete fistula closure was obtained in 16 patients; 1 patient had asymptomatic recurrent fistula; 2 patients had partial closure with reduction of fistula size and minimal nasal regurgitation; 1 patient developed a recurrent fistula without changes in symptoms (success rate of 85%). We conclude that utilizing acellular dermal matrix for cleft palate fistula repair is safe and simple with a high success rate.

  20. Strategy for Nasal Reconstruction in Atypical Facial Clefts

    Directory of Open Access Journals (Sweden)

    Fouad M. Ghareeb, FRCS, MD

    2017-11-01

    Full Text Available Summary:. It is difficult to put forward a strategy for the treatment of nasal clefts due to the rarity and diversity of anatomical aberrations of these cases contrary to the common nasal affection in cleft lip and palate patients, which differ in severity rather than differing in the morbid anatomy. This simple strategy for correction of these nasal clefts will hopefully help surgeons to achieve better results. In the mean time I intended to describe the morbid anatomy of these cases by choosing examples of each morbid anatomy.

  1. A Leu to Ile but not Leu to Val change at HIV-1 reverse transcriptase codon 74 in the background of K65R mutation leads to an increased processivity of K65R+L74I enzyme and a replication competent virus

    Directory of Open Access Journals (Sweden)

    Crumpacker Clyde S

    2011-01-01

    Full Text Available Abstract Background The major hurdle in the treatment of Human Immunodeficiency virus type 1 (HIV-1 includes the development of drug resistance-associated mutations in the target regions of the virus. Since reverse transcriptase (RT is essential for HIV-1 replication, several nucleoside analogues have been developed to target RT of the virus. Clinical studies have shown that mutations at RT codon 65 and 74 which are located in β3-β4 linkage group of finger sub-domain of RT are selected during treatment with several RT inhibitors, including didanosine, deoxycytidine, abacavir and tenofovir. Interestingly, the co-selection of K65R and L74V is rare in clinical settings. We have previously shown that K65R and L74V are incompatible and a R→K reversion occurs at codon 65 during replication of the virus. Analysis of the HIV resistance database has revealed that similar to K65R+L74V, the double mutant K65R+L74I is also rare. We sought to compare the impact of L→V versus L→I change at codon 74 in the background of K65R mutation, on the replication of doubly mutant viruses. Methods Proviral clones containing K65R, L74V, L74I, K65R+L74V and K65R+L74I RT mutations were created in pNL4-3 backbone and viruses were produced in 293T cells. Replication efficiencies of all the viruses were compared in peripheral blood mononuclear (PBM cells in the absence of selection pressure. Replication capacity (RC of mutant viruses in relation to wild type was calculated on the basis of antigen p24 production and RT activity, and paired analysis by student t-test was performed among RCs of doubly mutant viruses. Reversion at RT codons 65 and 74 was monitored during replication in PBM cells. In vitro processivity of mutant RTs was measured to analyze the impact of amino acid changes at RT codon 74. Results Replication kinetics plot showed that all of the mutant viruses were attenuated as compared to wild type (WT virus. Although attenuated in comparison to WT virus

  2. Maternal Risk Factors Associated with the Development of Cleft Lip and Cleft Palate in Mexico: A Case-Control Study.

    Science.gov (United States)

    Angulo-Castro, Emmanuel; Acosta-Alfaro, Luis F; Guadron-Llanos, Alma M; Canizalez-Román, Adrian; Gonzalez-Ibarra, Fernando; Osuna-Ramírez, Ignacio; Murillo-Llanes, Joel

    2017-07-01

    Cleft lip and palate, the most common developmental deformity, is seen worldwide and the etiology involves a combination of genetic and environmental factors. The purpose of this study was to determine the maternal risk factors associated with the development of cleft lip and cleft palate. We conducted a case control study at the Women's Hospital in Culiacan, Mexico. Medical records were analyzed, including patients who delivered babies with and without cleft lip and cleft palate from January 2010 to December 2015. Multiple variables were analyzed, including gestational age, weight at birth, the use of folic acid and multivitamins during pregnancy, smoking, alcohol abuse, the use of recreational drugs, history of sexually transmitted infections, marital status, socioeconomic status, education, and nutritional status. We found that the maternal risk factors with the strongest association for the development of cleft lip and cleft palate were the following: patients who were not taking folic acid during pregnancy [OR 3.27, 95% CI 1.32-8.09], P=0.00; patients who were not taking vitamin supplementation during pregnancy [OR 2.6, 95% CI 1.19-7.27], P=0.02; smoking during pregnancy [OR 2.05, 95% CI 1.23-3.41], P=0.01; and alcohol abuse during pregnancy [OR 1.90, 95% CI 1.17-3.08], P=0.03. The main risk factors associated with the development of cleft lip and cleft palate in a Mexican population at the Women's hospital in Culiacan, Sinaloa, Mexico were smoking, alcohol abuse, and patients not taking folic acid and multivitamins during pregnancy.

  3. Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate.

    Science.gov (United States)

    Dentino, K M; Valstar, A; Padwa, B L

    2016-06-01

    The goal of this study was to describe the clinical characteristics and treatment outcomes of patients with hemifacial microsomia (HFM) and cleft lip/palate (CL/P), and to compare them to a historic cohort of patients with non-syndromic CL/P treated at the same centre. A retrospective review of patients with HFM and CL/P was performed; the main outcome measures assessed were cleft type/side, surgical outcome, midfacial retrusion, and speech. Twenty-six patients (13 male, 13 female; mean age 22.7±14.9, range 1-52 years) with cleft lip with/without cleft palate (CL±P) were identified: three with cleft lip (12%), two with cleft lip and alveolus and an intact secondary palate (8%), and 21 with cleft lip and palate (CLP) (81%; 15 unilateral and six bilateral). Four patients (19%) had a palatal fistula after palatoplasty. Twelve of 22 patients aged >5 years (55%) had midfacial retrusion and two (9%) required a pharyngeal flap for velopharyngeal insufficiency (VPI). Fisher's exact test demonstrated a higher frequency of complete labial clefting (P=0.004), CLP (P=0.009), midfacial retrusion (P=0.0009), and postoperative palatal fistula (P=0.03) in HFM compared to non-syndromic CL±P. There was no difference in VPI prevalence. This study revealed that patients with HFM and CL±P have more severe forms of orofacial clefting than patients with non-syndromic CL±P. Patients with HFM and CL±P have more severe midfacial retrusion and a higher palatal fistula rate compared to patients with non-syndromic CL±P. Copyright © 2015 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  4. Assessing Technical Performance and Determining the Learning Curve in Cleft Palate Surgery Using a High-Fidelity Cleft Palate Simulator.

    Science.gov (United States)

    Podolsky, Dale J; Fisher, David M; Wong Riff, Karen W; Szasz, Peter; Looi, Thomas; Drake, James M; Forrest, Christopher R

    2018-06-01

    This study assessed technical performance in cleft palate repair using a newly developed assessment tool and high-fidelity cleft palate simulator through a longitudinal simulation training exercise. Three residents performed five and one resident performed nine consecutive endoscopically recorded cleft palate repairs using a cleft palate simulator. Two fellows in pediatric plastic surgery and two expert cleft surgeons also performed recorded simulated repairs. The Cleft Palate Objective Structured Assessment of Technical Skill (CLOSATS) and end-product scales were developed to assess performance. Two blinded cleft surgeons assessed the recordings and the final repairs using the CLOSATS, end-product scale, and a previously developed global rating scale. The average procedure-specific (CLOSATS), global rating, and end-product scores increased logarithmically after each successive simulation session for the residents. Reliability of the CLOSATS (average item intraclass correlation coefficient (ICC), 0.85 ± 0.093) and global ratings (average item ICC, 0.91 ± 0.02) among the raters was high. Reliability of the end-product assessments was lower (average item ICC, 0.66 ± 0.15). Standard setting linear regression using an overall cutoff score of 7 of 10 corresponded to a pass score for the CLOSATS and the global score of 44 (maximum, 60) and 23 (maximum, 30), respectively. Using logarithmic best-fit curves, 6.3 simulation sessions are required to reach the minimum standard. A high-fidelity cleft palate simulator has been developed that improves technical performance in cleft palate repair. The simulator and technical assessment scores can be used to determine performance before operating on patients.

  5. Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia.

    Directory of Open Access Journals (Sweden)

    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.

  6. Un Futuro Prometedor para su Nino con Labio Hendido y Paladar Hendido. Edicion Refundida (Bright Promise for Your Child with Cleft Lip and Cleft Palate. Revised Edition).

    Science.gov (United States)

    McDonald, Eugene T.; Berlin, Asa J.

    The booklet, written in Spanish, is intended to help parents of babies with cleft lip and/or cleft palate. Topics covered include the sequence of prenatal development and the effects of birth defects, common misconceptions about what causes the conditions, possible hereditary and environmental causes, and what it means to have a cleft palate or a…

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  8. Swallowing function after laryngeal cleft repair: more than just fixing the cleft.

    Science.gov (United States)

    Osborn, Alexander J; de Alarcon, Alessandro; Tabangin, Meredith E; Miller, Claire K; Cotton, Robin T; Rutter, Michael J

    2014-08-01

    To evaluate and describe the swallowing function in children after laryngeal cleft repair. Ten-year (2002-2012) retrospective chart review. Academic tertiary care pediatric otolaryngology practice. Records of 60 children who had surgical repair of laryngeal cleft (ages 2 weeks-14 years) and postoperative functional endoscopic evaluation of swallowing or videofluoroscopic swallow studies were examined retrospectively. Twenty-nine children had one postoperative swallow evaluation, 19 children had two, 4 children had three, 5 children had four, and 3 children had five. Median time to the first evaluation was 10.8 weeks (interquartile range [IQR]: 36.5, 231). On the final swallow evaluation, 34 (57%) children demonstrated normal swallowing parameters, 12 (20%) children showed penetration, and 14 (23%) children showed aspiration. Forty-three (72%) children were able to take everything by mouth normally or with minor behavioral modifications, 11 (18%) children required thickened fluids, and six (10%) children were kept nil per os (NPO). Mean improvement on the penetration-aspiration (pen-asp) scale was 2.13. On multivariable analysis, neurodevelopmental issues and gastronomy tube use were associated with the need for NPO status. Despite a high rate of surgical success, a substantial minority of children have persistent swallowing dysfunction after laryngeal cleft repair. Swallowing dysfunction after repair is multifactorial and arises from concomitant neurologic, anatomic, or other comorbidities that contribute to oropharyngeal and pharyngeal dysphagia. Based on our results, we recommend a testing schedule for postoperative swallowing evaluations after cleft repair. © 2014 The American Laryngological, Rhinological and Otological Society, Inc.

  9. 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.

  10. Reversible infantile mitochondrial diseases.

    Science.gov (United States)

    Boczonadi, Veronika; Bansagi, Boglarka; Horvath, Rita

    2015-05-01

    Mitochondrial diseases are usually severe and progressive conditions; however, there are rare forms that show remarkable spontaneous recoveries. Two homoplasmic mitochondrial tRNA mutations (m.14674T>C/G in mt-tRNA(Glu)) have been reported to cause severe infantile mitochondrial myopathy in the first months of life. If these patients survive the first year of life by extensive life-sustaining measures they usually recover and develop normally. Another mitochondrial disease due to deficiency of the 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) causes severe liver failure in infancy, but similar to the reversible mitochondrial myopathy, within the first year of life these infants may also recover completely. Partial recovery has been noted in some other rare forms of mitochondrial disease due to deficiency of mitochondrial tRNA synthetases and mitochondrial tRNA modifying enzymes. Here we summarize the clinical presentation of these unique reversible mitochondrial diseases and discuss potential molecular mechanisms behind the reversibility. Understanding these mechanisms may provide the key to treatments of potential broader relevance in mitochondrial disease, where for the majority of the patients no effective treatment is currently available.

  11. Parental age in relation to severity of clefting

    DEFF Research Database (Denmark)

    Hermann, Nuno Vibe; Darvann, Tron Andre; Kreiborg, Sven

    2016-01-01

    Lip and/or Palate (IC). Wilcoxon Rank-Sum test (5% significance level) was applied in order to test for group differences. Standard logistic regression was used in order to estimate the risk of developing CC relative to IC. Results. In the group with CC mean paternal age was 29.5+/-4.5 (1SD) years...... parental ages in the group with IC did not differ from normative population values during the same time period. Logistic regression showed for paternal age OR=1.1[1.04,1.16](Wald confidence limits); for maternal age 1.08[1.01,1.15]. Conclusions. The hypothesis was rejected. Parental age was significantly...... of cleft individuals, as well as to compare parental age in the cleft population with normative values of parental age. It was hypothesized that there was no difference in parental age between the cleft groups with incomplete and complete clefts, respectively. Methods/Descriptions. The consecutive non...

  12. Computational Embryology and Predictive Toxicology of Cleft Palate

    Science.gov (United States)

    Capacity to model and simulate key events in developmental toxicity using computational systems biology and biological knowledge steps closer to hazard identification across the vast landscape of untested environmental chemicals. In this context, we chose cleft palate as a model ...

  13. Contemporary Approaches in the Repair of Alveolar Clefts

    Directory of Open Access Journals (Sweden)

    Ufuk Tatli

    2014-08-01

    Full Text Available Cleft lip and palate is one of the most common craniofacial anomalies. The repair of the alveolar clefts is an important part of the treatment for patients with cleft lip and palate. The treatment concepts of alveolar bone grafting are still controversial. The corresponding controversial issues are; timing of alveolar bone grafting, graft materials, and timing of the orthodontic expansion. In the present article, aforementioned controversial issues and contemporary treatment modalities of the maxillary alveolar clefts were reviewed in the light of current literature. In conclusion, the most suitable time for alveolar bone grafting is mixed dentition period. Grafting procedure may be performed in the early or late phases of this period depending on some clinical features. Adjunct orthodontic expansion procedures should be performed before and/or after grafting depending on the patient's current features. [Archives Medical Review Journal 2014; 23(4.000: 563-574

  14. Ankyloglossia with cleft lip: A rare case report

    Science.gov (United States)

    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

  15. Ankyloglossia with cleft lip: A rare case report

    Directory of Open Access Journals (Sweden)

    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.

  16. Management of Cleft Lip and Palate in Nigeria: A Survey

    African Journals Online (AJOL)

    2017-03-20

    Mar 20, 2017 ... Background: Clefts of the lip and/or palate are the most common congenital craniofacial ... in the number of surgeons, but the training, scope, and standard of care remain ... specialist fellowship qualifications, 6 others (8.6%).

  17. Maxillary distraction complications in cleft patients.

    Science.gov (United States)

    Jeblaoui, Y; Morand, B; Brix, M; Lebeau, J; Bettega, G

    2010-06-01

    Cleft lip and palate (CLP) patients often present with a class III malocclusion in connection with a three dimensional maxillary hypoplasia. Twenty-five to 60% of these patients need maxillary advancement. Two solutions are possible: orthognathic surgery and maxillary distraction. The purpose of this study was to evaluate the complications of maxillary distraction in CLP patients. Data was collected from the records of patients treated in our surgery unit between 2000 and 2007. Among the eight patients (four male and four female), five presented with a bilateral CLP, two with a unilateral CLP, and one with a unilateral cleft lip associated to a soft palate cleft. The average age at surgery was 17 years. All underwent a Le Fort I osteotomy with a pterygomaxillary disjunction. An external distractor was used for the first two patients and an internal distractor for the six following patients. After a seven-day latency, activation was implemented at a rate of 1mm twice a day. The average period of consolidation was four months. Maxillary advancement ranged between 7 and 19mm, with an average of 12.6mm. The average follow-up was four years. Complications were noted in seven patients: one intra-operative hemorrhage, one avulsion of a tooth anchored at the pterygoid process during osteotomy, three cases of device dysfunction, two cases of significant pain during activation, one loosening of the orthodontic arch in an external system, two cases of labial ulceration, and one maxillary sinusitis due to migration of a wisdom tooth. Complications of maxillary distraction in CLP patients were very frequent. Most were related to the device and did not interfere with the final result. This must be taken into account when indicating distraction and choosing the device. Two types of complications can occur during distraction: those related to the osteotomy and those related to the device. The complications related to the osteotomy are linked to the cicatricial ground of previous

  18. [Maxillary distraction complications in cleft patients].

    Science.gov (United States)

    Jeblaoui, Y; Morand, B; Brix, M; Lebeau, J; Bettega, G

    2008-09-01

    Cleft lip and palate (CLP) patients often present with a class III malocclusion in connection with a three dimensional maxillary hypoplasia. Twenty-five to 60% of these patients require a maxillary advancement. Two solutions are possible: orthognathic surgery and maxillary distraction. The purpose of this study was to evaluate the complications of the maxillary distraction in CLP patients. Data was collected from the records of patients treated at our Surgery Unit between 2000 and 2007. Among the eight patients (four male and four female), five presented a bilateral CLP, two a unilateral CLP and one a unilateral cleft lip associated to a soft palate cleft. The average age at surgery was 17 years old. All had a Le Fort I osteotomy with a pterygomaxillary disjunction. The first two patients had external distractors and the six following internal ones. After a seven-day latency, activation was led to the rate of 1mm per day twice. The period of consolidation was four months on average. The maxillary advancement varied between 7 and 19 mm with an average of 12.6mm. The average follow-up was four years. We encountered difficulties and/or complications in seven patients: one intraoperatively haemorrhage, one avulsion of a tooth fixed at the pterygoid process during the osteotomy, three device failures, two cases of significant pains during activation, one dissociation of the dental anchorage of an external system, two labial ulcerations and one maxillary sinusitis by migration of the 18. Difficulties of maxillary distraction in CLP patients are very frequent. The majority is related to the distractors and did not interfere with the final result. But this frequency must be taken into account in the indication and in the choice of the material. Two types of complications can occur during distraction: those related to the osteotomy and those related to the material. The complications related to the osteotomy are in connection with the cicatricial ground of the CLP. They are

  19. Novel insights into a retinoic-acid-induced cleft palate based on Rac1 regulation of the fibronectin arrangement.

    Science.gov (United States)

    Tang, Qinghuang; Li, Liwen; Lee, Min-Jung; Ge, Qing; Lee, Jong-Min; Jung, Han-Sung

    2016-03-01

    Retinoic acid (RA)-induced cleft palate results from both extrinsic obstructions by the tongue and internal factors within the palatal shelves. Our previous study showed that the spatiotemporal expression of Rac1 regulates the fibronectin (FN) arrangement through cell density alterations that play an important role in palate development. In this study, we investigate the involvement of the Rac1 regulation of the FN arrangement in RA-induced cleft palate. Our results demonstrate that RA-induced intrinsic alterations in palatal shelves, including a delayed progress of cell condensation, delay palate development, even after the removal of the tongue. Further analysis shows that RA treatment diminishes the region-distinctive expression of Rac1 within the palatal shelves, which reversely alters the fibrillar arrangement of FN. Furthermore, RA treatment disrupts the formation of lamellipodia, which are indicative structures of cell migration that are regulated by Rac1. These results suggest that the Rac1 regulation of the FN arrangement is involved in RA-induced cleft palate through the regulation of cell migration, which delays the progress of cell condensation and subsequently influences the FN arrangement, inducing a delay in palate development. Our study provides new insights into the RA-induced impairment of palatal shelf elevation based on cell migration dynamics.

  20. Phonetic description of babbling in Danish toddlers born with and without unilateral cleft lip and palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth; Albrechstn, Helle

    2006-01-01

    Objective: To investigate prelinguistic vocalization sequences of 1-year-old children with and without cleft lip and palate. Design: Prospective study. Participants: Thirty-eight children born with unilateral cleft lip and palate and 36 control children born without clefts. The cleft children had...... of occurrence of nasal contoids and a smaller frequency of occurrence of alveolar contoids in the cleft group. Canonical babbling was achieved by most children in both groups, and no significant difference was found between the groups. Conclusions: Early closure of the soft palate seems to have a positive...... influence on the prelinguistic development of children with cleft palate....

  1. Congenital Palatal Fistula Associated with Submucous Cleft Palate

    Science.gov (United States)

    Eshete, Mekonen; Camison, Liliana; Abate, Fikre; Hailu, Taye; Demissie, Yohannes; Mohammed, Ibrahim; Butali, Azeez; Losken, H. Wolfgang

    2016-01-01

    Background: Although cleft lip and cleft palate are among the most common congenital malformations, the presence of an isolated congenital palatal fistula along with a submucous cleft is very rare. This appears as an oval-shaped, full-thickness fenestration in the palatal midline that does not fully extend anteriorly or posteriorly, accompanied by the findings of a submucous cleft. Because of the uncommon nature of this entity, there is controversy about its etiology, diagnosis, and management. Methods: Two cases of children with congenital palatal fistulae and a submucous cleft palate are presented who were treated in different settings by different surgeons. Cases are discussed along with a thorough review of the available literature. Results: Patient 1 presented at 4 years of age with “a hole in the palate” since birth and abnormal speech. His palatal fistula and submucous cleft were repaired with a modified von Langenbeck technique in Ethiopia. At a 2-year follow-up, the palate remained closed, but hypernasal speech persisted. Patient 2 was a 1-year-old presenting with failure to thrive and nasal regurgitation, who underwent a Furlow palatoplasty in the United States with good immediate results. She was unfortunately lost to follow-up. Conclusions: A congenital fenestration of the palate is rare. Reports reveal suboptimal speech at follow-up, despite various types of repair, especially when combined with a submucous cleft. Available literature suggests that repair should not focus on fistula closure only but instead on providing adequate palate length to provide good velopharyngeal function, as in any cleft palate repair. PMID:27014542

  2. [First branchial cleft cyst in nasopharynx: a case report].

    Science.gov (United States)

    2017-09-20

    We report a rare case of first branchial cleft cyst arising from the nasopharynx. A 47-year old woman with a six-month-history of right ear stuffy and hearing loss was studied. Electronic nasopharyngeal examination revealed a mass in the nasopharynx of this case. The tumor was removed endoscopically with endonasal approach. Postoperative pathological examination indicated that it was branchial cleft cyst. Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.

  3. The trochlear cleft: the ''black line'' of the trochlear trough

    International Nuclear Information System (INIS)

    Wissman, Robert D.; Nepute, Joshua; Fischer, Nathaniel von; Radhakrishnan, Rupa; Hendry, Daniel; Ingalls, Jerrell; Kenter, Keith

    2012-01-01

    The ''cartilage black line sign'' is a recently described T2 dark cartilage lesion that we have identified appearing as a cleft in the trochlear trough. The purpose of our study was to define the MR imaging characteristics of a trochlear cleft, determine its incidence, and correlate the MR findings with arthroscopy. A total of 1,300 consecutive MR examinations of the knee were retrospectively reviewed by consensus of two fellowship-trained musculoskeletal radiologists. The MR imaging characteristics and location of a trochlear cleft were determined. Imaging results were compared to arthroscopy when available. Patient age and gender were compared to 25 randomly selected control patients without trochlear clefts. A total of 25 (1.9%) individuals (11 females and 14 males; age range 19-45 years; mean age 28 years) were diagnosed with a trochlear cleft. The control group consisted of 11 females and 14 males; age range 19-83 years; mean age 46 years. Mean cleft length was 7 mm (range 6-12 mm); cleft location was consistently in the lower trochlear trough. No full-thickness cartilage defects were identified in the eight individuals in whom arthroscopic correlation was available. A grade 2 cartilage lesion was identified in a single individual; another progressed from grade 0 to a full-thickness trochlear lesion over an 8-month interval. Eight individuals were athletes. No significant difference in gender was noted between the two groups, however, the study group was significantly younger p < 0.0001. A trochlear cleft is a rare finding in young active individuals. It most likely indicates an incomplete cartilage fissure which may rarely progress to a full-thickness defect. (orig.)

  4. A Relationship between nasolabial appearance and self-esteem in adolescent with repaired cleft lip and cleft palate at Khon Kaen University Cleft Center.

    Science.gov (United States)

    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.

  5. A case report of brachial cleft cyst in the neck

    International Nuclear Information System (INIS)

    Lee, Young Mi; Choi, Soon Chul; Park, Tae Won; You, Dong Soo

    1993-01-01

    Branchial cleft cyst is the most common lateral neck cyst ; the vast majority are of the second branchial cleft origin. This presumably reflects the greater depth and longer persistence of the second cleft, compared with the first, third, and fourth clefts. We experienced a 49-year-old male whose chief complaint was a abnormal mass of the cleft parotid gland area and neck. As a result of careful analysis of clinical, radiological, and histopathological findings. We diagnosed it as a second branchial cleft cyst in the neck and obtained results as follows: 1. In clinical examination, there was a 10 X 15 cm sized, fluctuant painful mass in the left neck and parotid area. 2. In radiographic examination, a low echogenic mass with internal cystic change in the inferior parotid gland area was noted sonographically. Computed tomograph showed a 3 X 4 cm sized, well-defined cystic mass with heterogenous solid component in the anterior border of sternocleidomastoid muscle. MRI revealed 5 X 6 cm sized, well-marginated multiseparated mass in the same area. 3. In histopathological examination, lining of cyst was stratified squamous epithelium with typical lymph node pattern and inflammatory cell infiltration.

  6. A case report of brachial cleft cyst in the neck

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Young Mi; Choi, Soon Chul; Park, Tae Won; You, Dong Soo [Dept. of Oral and Maxillofacial Radiology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of)

    1993-08-15

    Branchial cleft cyst is the most common lateral neck cyst ; the vast majority are of the second branchial cleft origin. This presumably reflects the greater depth and longer persistence of the second cleft, compared with the first, third, and fourth clefts. We experienced a 49-year-old male whose chief complaint was a abnormal mass of the cleft parotid gland area and neck. As a result of careful analysis of clinical, radiological, and histopathological findings. We diagnosed it as a second branchial cleft cyst in the neck and obtained results as follows: 1. In clinical examination, there was a 10 X 15 cm sized, fluctuant painful mass in the left neck and parotid area. 2. In radiographic examination, a low echogenic mass with internal cystic change in the inferior parotid gland area was noted sonographically. Computed tomograph showed a 3 X 4 cm sized, well-defined cystic mass with heterogenous solid component in the anterior border of sternocleidomastoid muscle. MRI revealed 5 X 6 cm sized, well-marginated multiseparated mass in the same area. 3. In histopathological examination, lining of cyst was stratified squamous epithelium with typical lymph node pattern and inflammatory cell infiltration.

  7. Augmentation Rhinoplasty in Cleft Lip Nasal Deformity: Preliminary Patients’ Perspective

    Directory of Open Access Journals (Sweden)

    William H. C. Tiong

    2014-01-01

    Full Text Available The correction of cleft lip nasal deformity is challenging and there have been numerous methods described in the literature with little demonstrated technical superiority of one over another. The common clinical issues associated with cleft lip nasal deformity are its lack of symmetry, alar collapse on the affected side, obtuse nasal labial angle, short nasal length, loss of tip definition, and altered columella show among others. We carried out augmentation of cleft lip rhinoplasties with rib graft in 16 patients over the one-year study period. Each of these patients was reviewed and given questionnaire before and after surgery to evaluate their response on the outcome to the approach. Preoperatively, nasal asymmetry is the main complaint (14/16, 87.5% among our series of patients. Postoperatively, 12 (75% patients out of the 16 reported significant improvement in their nasal symmetry with the other four marginal. All patients reported excellent nasal projection postoperatively with good nasal tip definition. Our series of patients reported overall good satisfaction outcome and will recommend this procedure to other patients with cleft lip nasal deformity. In conclusion, augmentation of cleft lip rhinoplasty can be employed to achieve perceivable and satisfactory outcome in patients with cleft lip nasal deformity.

  8. Early lexical characteristics of toddlers with cleft lip and palate.

    Science.gov (United States)

    Hardin-Jones, Mary; Chapman, Kathy L

    2014-11-01

    Objective : To examine development of early expressive lexicons in toddlers with cleft palate to determine whether they differ from those of noncleft toddlers in terms of size and lexical selectivity. Design : Retrospective. Patients : A total of 37 toddlers with cleft palate and 22 noncleft toddlers. Main Outcome Measures : The groups were compared for size of expressive lexicon reported on the MacArthur Communicative Development Inventory and the percentage of words beginning with obstruents and sonorants produced in a language sample. Differences between groups in the percentage of word initial consonants correct on the language sample were also examined. Results : Although expressive vocabulary was comparable at 13 months of age for both groups, size of the lexicon for the cleft group was significantly smaller than that for the noncleft group at 21 and 27 months of age. Toddlers with cleft palate produced significantly more words beginning with sonorants and fewer words beginning with obstruents in their spontaneous speech samples. They were also less accurate when producing word initial obstruents compared with the noncleft group. Conclusions : Toddlers with cleft palate demonstrate a slower rate of lexical development compared with their noncleft peers. The preference that toddlers with cleft palate demonstrate for words beginning with sonorants could suggest they are selecting words that begin with consonants that are easier for them to produce. An alternative explanation might be that because these children are less accurate in the production of obstruent consonants, listeners may not always identify obstruents when they occur.

  9. Comparing caries risk profiles between 5- and 10- year-old children with cleft lip and/or palate and non-cleft controls

    DEFF Research Database (Denmark)

    Sundell, Anna Lena; Ullbro, Christer; Marcusson, Agneta

    2015-01-01

    of cleft lip and/or palate (CL(P)) children with non-cleft controls in the same age using a computerized caries risk assessment model. METHODS: The study group consisted of 133 children with CL(P) (77 subjects aged 5 years and 56 aged 10 years) and 297 non-cleft controls (133 aged 5 years and 164 aged 10......BACKGROUND: Previous studies have suggested that children with oral clefts may have higher caries prevalence in comparison with non-cleft controls but the relative importance of the potential risk factors is not clear. The aim of this study was to compare the caries risk profiles in a group...

  10. Ophthalmic changes in cleft lip and palate

    Directory of Open Access Journals (Sweden)

    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.

  11. Computed tomography of Rathke's cleft cyst

    International Nuclear Information System (INIS)

    Shiokawa, Yoshiaki; Teramoto, Akira; Mayanagi, Yoshiaki; Hanamura, Tetsu; Noguchi, Makoto; Takakura, Kintomo.

    1986-01-01

    The computed tomography (CT) findings in six cases of Rathke's cleft cyst (RCC) were presented. According to the location of the RCC, we divided these cases into two types - the suprasellar type and the intrasellar type. The characteristic CT findings are as follows: SUPRASELLAR type 1. smooth, round mass, 2. various densities, 3. no enhancement, INTRASELLAR type 1. low-density area in the posterior sella turcica, 2. no enhancement, 3. suprasellar high-density mass; enhanced pituitary gland pushed up by the intrasellar RCC. As RCC are more common than was formerly suspected, this disease should always be considered in the differential diagnosis of a patient showing a non-enhancing, non-calcified sellar/suprasellar cyst on CT scans. (author)

  12. Computed tomography of Rathke's cleft cyst

    Energy Technology Data Exchange (ETDEWEB)

    Shiokawa, Yoshiaki; Teramoto, Akira; Mayanagi, Yoshiaki; Hanamura, Tetsu; Noguchi, Makoto; Takakura, Kintomo

    1986-02-01

    The computed tomography (CT) findings in six cases of Rathke's cleft cyst (RCC) were presented. According to the location of the RCC, we divided these cases into two types - the suprasellar type and the intrasellar type. The characteristic CT findings are as follows: SUPRASELLAR type 1. smooth, round mass, 2. various densities, 3. no enhancement, INTRASELLAR type 1. low-density area in the posterior sella turcica, 2. no enhancement, 3. suprasellar high-density mass; enhanced pituitary gland pushed up by the intrasellar RCC. As RCC are more common than was formerly suspected, this disease should always be considered in the differential diagnosis of a patient showing a non-enhancing, non-calcified sellar/suprasellar cyst on CT scans.

  13. [Presurgical alveolar molding using computer aided design in infants with unilateral complete cleft lip and palate].

    Science.gov (United States)

    Zgong, Xin; Yu, Quan; Yu, Zhe-yuan; Wang, Guo-min; Qian, Yu-fen

    2012-04-01

    To establish a new method of presurgical alveolar molding using computer aided design(CAD) in infants with complete unilateral cleft lip and palate (UCLP). Ten infants with complete UCLP were recruited. A maxillary impression was taken at the first examination after birth. The study model was scanned by a non-contact three-dimensional laser scanner and a digital model was constructed and analyzed to simulate the alveolar molding procedure with reverse engineering software (RapidForm 2006). The digital geometrical data were exported to produce a scale model using rapid prototyping technology. The whole set of appliances was fabricated based on these solid models. The digital model could be viewed and measured from any direction by the software. By the end of the NAM treatment before surgical lip repair, the cleft was narrowed and the malformation of alveolar segments was aligned normally, significantly improving nasal symmetry and nostril shape. Presurgical NAM using CAD could simplify the treatment procedure and estimate the treatment objective, which enabled precise control of the force and direction of the alveolar segments movement.

  14. A comparative study of prelinguistic vocalizations in two groups of cleft toddlers and a non-cleft group

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth; Enemark, Hans

    2000-01-01

    . The results of this investigation were compared to results previously reported for 19 children with cleft palate and 19 noncleft children at the age of 13 months. The children with clefts in that study received a two-stage palatal surgery. This surgical procedure was formerly used at our center and included...... children in the comparison group. Both groups of subjects with clefts had significantly fewer plosives in their contoid inventory than the noncleft group, and there was no difference regarding place of articulation between the group that received delayed closure of the hard palate and the noncleft group.......Objective: This study examined the prelinguistic contoid (consonant-like) inventories of 14 children with unilateral cleft lip and palate (C-UCLP) at 13 months of age. The children had received primary veloplasty at 7 months of age and closure of the hard palate was performed at 3–5 years...

  15. Attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of nonsyndromic orofacial clefts in a semiurban set-up in India

    Directory of Open Access Journals (Sweden)

    Poornima Kadagad

    2011-01-01

    Full Text Available Objectives: To assess the attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of clefts and elective termination of pregnancy, and to investigate their opinion about who makes reproductive decisions in the family. Design: Two hundred subjects were included in the study prospectively regarding hypothetical prenatal ultrasound diagnosis of clefts. Setting: The study was done in a private tertiary care institution and a teaching hospital. Subjects/Participants: One hundred pregnant women consulting the Obstetrics department and 100 mothers of children with orofacial clefts in the Cleft and Craniofacial Unit were selected. Materials and Methods: Group I subjects were interviewed using a questionnaire and were shown preoperative and postoperative pictures of children treated for cleft lip and palate. Group II subjects were interviewed using a questionnaire. Results: Only 3% of Group I subjects and 2% of Group II opined that they would choose the elective termination of pregnancy if the fetus was diagnosed with a cleft on an ultrasound scan. In Group II, 70% subjects wished to have known about pregnancy affected with cleft prenatally and 96% said they would definitely avail ultrasound scans to determine pregnancy affected by clefts in future. Conclusions: Majority of the respondents from both the groups chose to continue with the pregnancy affected with a cleft when questioned regarding hypothetical prenatal ultrasound diagnosis of the cleft.

  16. Attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of nonsyndromic orofacial clefts in a semiurban set-up in India

    Science.gov (United States)

    Kadagad, Poornima; Pinto, Pascal; Powar, Rajesh

    2011-01-01

    Objectives: To assess the attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of clefts and elective termination of pregnancy, and to investigate their opinion about who makes reproductive decisions in the family. Design: Two hundred subjects were included in the study prospectively regarding hypothetical prenatal ultrasound diagnosis of clefts. Setting: The study was done in a private tertiary care institution and a teaching hospital. Subjects/Participants: One hundred pregnant women consulting the Obstetrics department and 100 mothers of children with orofacial clefts in the Cleft and Craniofacial Unit were selected. Materials and Methods: Group I subjects were interviewed using a questionnaire and were shown preoperative and postoperative pictures of children treated for cleft lip and palate. Group II subjects were interviewed using a questionnaire. Results: Only 3% of Group I subjects and 2% of Group II opined that they would choose the elective termination of pregnancy if the fetus was diagnosed with a cleft on an ultrasound scan. In Group II, 70% subjects wished to have known about pregnancy affected with cleft prenatally and 96% said they would definitely avail ultrasound scans to determine pregnancy affected by clefts in future. Conclusions: Majority of the respondents from both the groups chose to continue with the pregnancy affected with a cleft when questioned regarding hypothetical prenatal ultrasound diagnosis of the cleft. PMID:22279286

  17. Cleft lip and palate: recommendations for dental anesthetic procedure based on anatomic evidences

    Directory of Open Access Journals (Sweden)

    Ivy Kiemle Trindade-Suedam

    2012-02-01

    Full Text Available Patients with cleft lip and palate usually present dental anomalies of number, shape, structure and position in the cleft area and the general dentist is frequently asked to restore or extract those teeth. Considering that several anatomic variations are expected in teeth adjacent to cleft areas and that knowledge of these variations by general dentists is required for optimal treatment, the objectives of this paper are: 1 to describe changes in the innervation pattern of anterior teeth and soft tissue caused by the presence of a cleft, 2 to describe a local anesthetic procedure in unilateral and bilateral clefts, and 3 to provide recommendations to improve anesthetic procedures in patients with cleft lip and palate. The cases of 2 patients are presented: one with complete unilateral cleft lip and palate, and the other with complete bilateral cleft lip and palate. The patients underwent local anesthesia in the cleft area in order to extract teeth with poor bone support. The modified anesthetic procedure, respecting the altered course of nerves in the cleft maxilla and soft tissue alterations at the cleft site, was accomplished successfully and the tooth extraction was performed with no pain to the patients. General dentists should be aware of the anatomic variations in nerve courses in the cleft area to offer high quality treatment to patients with cleft lip and palate.

  18. Improved Early Cleft Lip and Palate Complications at a Surgery Specialty Center in the Developing World.

    Science.gov (United States)

    Park, Eugene; Deshpande, Gaurav; Schonmeyr, Bjorn; Restrepo, Carolina; Campbell, Alex

    2018-01-01

    To evaluate complication rates following cleft lip and cleft palate repairs during the transition from mission-based care to center-based care in a developing region. We performed a retrospective review of 3419 patients who underwent cleft lip repair and 1728 patients who underwent cleft palate repair in Guwahati, India between December 2010 and February 2014. Of those who underwent cleft lip repair, 654 were treated during a surgical mission and 2765 were treated at a permanent center. Of those who underwent cleft palate repair, 236 were treated during a surgical mission and 1491 were treated at a permanent center. Two large surgical missions to Guwahati, India, and the Guwahati Comprehensive Cleft Care Center (GCCCC) in Assam, India. Overall complication rates following cleft lip and cleft palate repair. Overall complication rates following cleft lip repair were 13.2% for the first mission, 6.7% for the second mission, and 4.0% at GCCCC. Overall complication rates following cleft palate repair were 28.0% for the first mission, 30.0% for the second mission, and 15.8% at GCCCC. Complication rates following cleft palate repair by the subset of surgeons permanently based at GCCCC (7.2%) were lower than visiting surgeons ( P cleft care delivery in the developing world can lead to decreased complication rates.

  19. Variation among cleft centres in the use of secondary surgery for children with cleft palate: a retrospective cohort study

    Science.gov (United States)

    Sitzman, Thomas J; Hossain, Monir; Carle, Adam C; Heaton, Pamela C; Britto, Maria T

    2017-01-01

    Objectives To test whether cleft centres vary in their use of secondary cleft palate surgery, also known as revision palate surgery, and if so to identify modifiable hospital factors and surgeon factors that are associated with use of secondary surgery. Design Retrospective cohort study. Setting Forty-three paediatric hospitals across the USA. Patients Children with cleft lip and palate who underwent primary cleft palate repair from 1999 to 2013. Main outcome measures Time from primary cleft palate repair to secondary palate surgery. Results We identified 4939 children who underwent primary cleft palate repair. At 10 years after primary palate repair, 44% of children had undergone secondary palate surgery. Significant variation existed among hospitals (ppalate repair before 9 months of age was associated with an increased hazard of secondary palate surgery (initial HR 6.74, 95% CI 5.30 to 8.73). Postoperative antibiotics, surgeon procedure volume and hospital procedure volume were not associated with time to secondary surgery (p>0.05). Of the outcome variation attributable to hospitals and surgeons, between-hospital differences accounted for 59% (ppalate surgery exists depending on a child’s age at primary palate repair and the hospital and surgeon performing their repair. Performing primary palate repair before 9 months of age substantially increases the hazard of secondary surgery. Further research is needed to identify other factors contributing to variation in palate surgery outcomes among hospitals and surgeons. PMID:29479567

  20. When there is more than a cleft: psychological adjustment when a cleft is associated with an additional condition.

    Science.gov (United States)

    Feragen, Kristin Billaud; Stock, Nicola Marie

    2014-01-01

    In spite of studies reporting a relatively high frequency of additional conditions in children with a cleft lip and/or cleft palate (CL/P), almost no research has focused on this clinically important subgroup. The objective of this study was to compare psychosocial adjustment in children with CL/P with and without an additional condition. Cross-sectional data based on routine psychological assessments at age 10 years, with comparisons to national reference groups. Centralized treatment, Norway. Two hundred five children with CL/P (participation rate: 80.1%) from three consecutive birth cohorts. The Strengths and Difficulties Questionnaire (self-report and parent report) and the Child Experience Questionnaire (self-report). Eighty-one children (39.5%) were identified as having at least one condition in addition to the cleft. These children reported significantly more psychosocial difficulties than children with a cleft alone. Differences between specific conditions were minor. Children with a cleft alone (n = 124) reported mean scores that were comparable to those reported by the reference group. There were no differences in adjustment between children with a visible versus a non-visible cleft. The present study highlights the need for research to be conducted in children with CL/P who have additional conditions to provide better knowledge and clinical care for a potentially vulnerable subgroup of children and their parents.

  1. Emergent HIV-1 Drug Resistance Mutations Were Not Present at Low-Frequency at Baseline in Non-Nucleoside Reverse Transcriptase Inhibitor-Treated Subjects in the STaR Study.

    Science.gov (United States)

    Porter, Danielle P; Daeumer, Martin; Thielen, Alexander; Chang, Silvia; Martin, Ross; Cohen, Cal; Miller, Michael D; White, Kirsten L

    2015-12-07

    At Week 96 of the Single-Tablet Regimen (STaR) study, more treatment-naïve subjects that received rilpivirine/emtricitabine/tenofovir DF (RPV/FTC/TDF) developed resistance mutations compared to those treated with efavirenz (EFV)/FTC/TDF by population sequencing. Furthermore, more RPV/FTC/TDF-treated subjects with baseline HIV-1 RNA >100,000 copies/mL developed resistance compared to subjects with baseline HIV-1 RNA ≤100,000 copies/mL. Here, deep sequencing was utilized to assess the presence of pre-existing low-frequency variants in subjects with and without resistance development in the STaR study. Deep sequencing (Illumina MiSeq) was performed on baseline and virologic failure samples for all subjects analyzed for resistance by population sequencing during the clinical study (n = 33), as well as baseline samples from control subjects with virologic response (n = 118). Primary NRTI or NNRTI drug resistance mutations present at low frequency (≥2% to 20%) were detected in 6.6% of baseline samples by deep sequencing, all of which occurred in control subjects. Deep sequencing results were generally consistent with population sequencing but detected additional primary NNRTI and NRTI resistance mutations at virologic failure in seven samples. HIV-1 drug resistance mutations emerging while on RPV/FTC/TDF or EFV/FTC/TDF treatment were not present at low frequency at baseline in the STaR study.

  2. Emergent HIV-1 Drug Resistance Mutations Were Not Present at Low-Frequency at Baseline in Non-Nucleoside Reverse Transcriptase Inhibitor-Treated Subjects in the STaR Study

    Directory of Open Access Journals (Sweden)

    Danielle P. Porter

    2015-12-01

    Full Text Available At Week 96 of the Single-Tablet Regimen (STaR study, more treatment-naïve subjects that received rilpivirine/emtricitabine/tenofovir DF (RPV/FTC/TDF developed resistance mutations compared to those treated with efavirenz (EFV/FTC/TDF by population sequencing. Furthermore, more RPV/FTC/TDF-treated subjects with baseline HIV-1 RNA >100,000 copies/mL developed resistance compared to subjects with baseline HIV-1 RNA ≤100,000 copies/mL. Here, deep sequencing was utilized to assess the presence of pre-existing low-frequency variants in subjects with and without resistance development in the STaR study. Deep sequencing (Illumina MiSeq was performed on baseline and virologic failure samples for all subjects analyzed for resistance by population sequencing during the clinical study (n = 33, as well as baseline samples from control subjects with virologic response (n = 118. Primary NRTI or NNRTI drug resistance mutations present at low frequency (≥2% to 20% were detected in 6.6% of baseline samples by deep sequencing, all of which occurred in control subjects. Deep sequencing results were generally consistent with population sequencing but detected additional primary NNRTI and NRTI resistance mutations at virologic failure in seven samples. HIV-1 drug resistance mutations emerging while on RPV/FTC/TDF or EFV/FTC/TDF treatment were not present at low frequency at baseline in the STaR study.

  3. A point mutation in the DNA-binding domain of HPV-2 E2 protein increases its DNA-binding capacity and reverses its transcriptional regulatory activity on the viral early promoter

    Directory of Open Access Journals (Sweden)

    Gao Chen

    2012-02-01

    Full Text Available Abstract Background The human papillomavirus (HPV E2 protein is a multifunctional DNA-binding protein. The transcriptional activity of HPV E2 is mediated by binding to its specific binding sites in the upstream regulatory region of the HPV genomes. Previously we reported a HPV-2 variant from a verrucae vulgaris patient with huge extensive clustered cutaneous, which have five point mutations in its E2 ORF, L118S, S235P, Y287H, S293R and A338V. Under the control of HPV-2 LCR, co-expression of the mutated HPV E2 induced an increased activity on the viral early promoter. In the present study, a series of mammalian expression plasmids encoding E2 proteins with one to five amino acid (aa substitutions for these mutations were constructed and transfected into HeLa, C33A and SiHa cells. Results CAT expression assays indicated that the enhanced promoter activity was due to the co-expressions of the E2 constructs containing A338V mutation within the DNA-binding domain. Western blots analysis demonstrated that the transiently transfected E2 expressing plasmids, regardless of prototype or the A338V mutant, were continuously expressed in the cells. To study the effect of E2 mutations on its DNA-binding activity, a serial of recombinant E2 proteins with various lengths were expressed and purified. Electrophoresis mobility shift assays (EMSA showed that the binding affinity of E2 protein with A338V mutation to both an artificial probe with two E2 binding sites or HPV-2 and HPV-16 promoter-proximal LCR sequences were significantly stronger than that of the HPV-2 prototype E2. Furthermore, co-expression of the construct containing A338V mutant exhibited increased activities on heterologous HPV-16 early promoter P97 than that of prototype E2. Conclusions These results suggest that the mutation from Ala to Val at aa 338 is critical for E2 DNA-binding and its transcriptional regulation.

  4. A Reverse-Genetics Mutational Analysis of the Barley HvDWARF Gene Results in Identification of a Series of Alleles and Mutants with Short Stature of Various Degree and Disturbance in BR Biosynthesis Allowing a New Insight into the Process.

    Science.gov (United States)

    Gruszka, Damian; Gorniak, Malgorzata; Glodowska, Ewelina; Wierus, Ewa; Oklestkova, Jana; Janeczko, Anna; Maluszynski, Miroslaw; Szarejko, Iwona

    2016-04-22

    Brassinosteroids (BRs) are plant steroid hormones, regulating a broad range of physiological processes. The largest amount of data related with BR biosynthesis has been gathered in Arabidopsis thaliana, however understanding of this process is far less elucidated in monocot crops. Up to now, only four barley genes implicated in BR biosynthesis have been identified. Two of them, HvDWARF and HvBRD, encode BR-6-oxidases catalyzing biosynthesis of castasterone, but their relation is not yet understood. In the present study, the identification of the HvDWARF genomic sequence, its mutational and functional analysis and characterization of new mutants are reported. Various types of mutations located in different positions within functional domains were identified and characterized. Analysis of their impact on phenotype of the mutants was performed. The identified homozygous mutants show reduced height of various degree and disrupted skotomorphogenesis. Mutational analysis of the HvDWARF gene with the "reverse genetics" approach allowed for its detailed functional analysis at the level of protein functional domains. The HvDWARF gene function and mutants' phenotypes were also validated by measurement of endogenous BR concentration. These results allowed a new insight into the BR biosynthesis in barley.

  5. Radiographic study on maxillary sinus development and nasal septum deviation in cleft palate patient

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sam Sun; You, Dong Soo [Dept. of Oral Radiology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of)

    1992-08-15

    This study was designed to investigate the effects of the maxillary sinus development and nasal septum deviation on diseases of maxillary sinus with cleft palate. The materials was 152 cephalometric Waters' projections consist of 76 cleft patients and 76 normal subjects. The results were as follows: 1. The disease of maxillary sinus was present in 49% of a cleft group and 14% of a control group, and prevalent in cleft side. 2. It showed no statistically significant difference in size of the maxillary sinus in cleft palate patients compared to the control population and in the cleft side to the noncleft side (p<0.05). 3. Nasal septum deviation was more severe in the cleft patient its average value was 3.55mm, compared to the control group, 0.99 mm (p<0.01) and 77% of the deviated nasal septum was deviated to the cleft side.

  6. Reconstruction of alveolar defects in patients with cleft lip and palate - 111 consecutive patients

    DEFF Research Database (Denmark)

    Andersen, Kristian

    2012-01-01

    Reconstruction of alveolar defects in patients with cleft lip and palate - 111 consecutive patients......Reconstruction of alveolar defects in patients with cleft lip and palate - 111 consecutive patients...

  7. Radiographic study on maxillary sinus development and nasal septum deviation in cleft palate patient

    International Nuclear Information System (INIS)

    Lee, Sam Sun; You, Dong Soo

    1992-01-01

    This study was designed to investigate the effects of the maxillary sinus development and nasal septum deviation on diseases of maxillary sinus with cleft palate. The materials was 152 cephalometric Waters' projections consist of 76 cleft patients and 76 normal subjects. The results were as follows: 1. The disease of maxillary sinus was present in 49% of a cleft group and 14% of a control group, and prevalent in cleft side. 2. It showed no statistically significant difference in size of the maxillary sinus in cleft palate patients compared to the control population and in the cleft side to the noncleft side (p<0.05). 3. Nasal septum deviation was more severe in the cleft patient its average value was 3.55mm, compared to the control group, 0.99 mm (p<0.01) and 77% of the deviated nasal septum was deviated to the cleft side.

  8. The Role of Lip Adhesion in the Treatment of Cleft Lips

    African Journals Online (AJOL)

    user

    2004-12-02

    Dec 2, 2004 ... presence of a wide alveolar cleft (gap>7mm) with severely malpositioned maxillary segments. LA was performed at ... example head caps and elastic bands and intraoral orthodontic .... arch alignment in bilateral cleft lip and.

  9. Cleft lip and palate review: Epidemiology, risk factors, quality of life, and importance of classifications

    Directory of Open Access Journals (Sweden)

    Laureen Supit

    2008-12-01

    Full Text Available Cleft lip with or without cleft palate is the most occurring craniofacial anomaly in human, resulting from a complex etiology involving multiple genetic and environmental factors. The defect carries lifelong morbidity and economic burden. Children with clefts will require continuous medical interventions for at least the first 18 years of life, affecting many aspects of their lives. The extent and complexity of clefts vary infinitely, later determining individual management and outcome. Identification and classification play significant roles in initial assessment of these unique cleft cases, which affect options for following correctional attempts. Some classifications even allow measurement of progress after anatomical repositioning, and success rate after surgical repairs. The challenge of developing one such widely inclusive classification is discussed. (Med J Indones 2008; 17: 226-39Keywords: Cleft lip, cleft palate, congenital anomaly, cleft  classfications

  10. Cleft-lift operation for pilonidal sinuses under tumescent local anesthesia

    DEFF Research Database (Denmark)

    Bertelsen, Claus Anders

    2011-01-01

    The use of tumescent local anesthesia in the Bascom cleft-lift procedure has not been described before.......The use of tumescent local anesthesia in the Bascom cleft-lift procedure has not been described before....

  11. Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting

    DEFF Research Database (Denmark)

    Roosenboom, Jasmien; Indencleef, Karlijne; Hens, Greet

    2017-01-01

    Nonsyndromic orofacial clefts (OFCs) are complex traits characterized by multifactorial inheritance and wide phenotypic variability. Numerous studies have shown subtle differences in the faces of unaffected relatives from cleft families compared to controls, the implication being that such outwar...

  12. Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene

    NARCIS (Netherlands)

    Eisenkraft, A.; Pode-Shakked, B.; Goldstein, N.; Shpirer, Z.; Bokhoven, H. van; Anikster, Y.

    2015-01-01

    Mutations in the TP63 gene have been associated with a variety of ectodermal dysplasia syndromes, among which the clinically overlapping Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) and the Rapp-Hodgkin syndromes. We report a multiplex nonconsanguineous family of Ashkenazi-Jewish

  13. 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

  14. Modification of mutation frequency in Saccharomyces Cerevisiae

    International Nuclear Information System (INIS)

    Vashishat, R.K.; Kakar, S.N.

    1976-01-01

    In a reverse mutation system, using haploid, histidine-requirinq strain of Saccharomyces cerevisiae, the frequency of uv-induced prototrophs increased if the post-irradiation minimal medium was supplemented with limited amounts of histidine. Addition of natural amino acids or RNA bases in the post-irradiation minimal medium, with or without histidine, also increased the uv-induced mutation frequency. Thus, post-irradiation conditions favouring protein and RNA synthesis, are effective in increasing uv-induced mutations in yeast. As compared to uv light, nitrous acid was more effective in inducing reversions in this strain and the frequency increased if the treated cells were plated on minimal medium supplemented with limited amounts of histidine. However, the addition of amino acids or RNA bases decreased the number of revertants. An additional inclusion of histidine reversed the suppressive effect of these metabolites. The mutation induction processes are thus different or differently modifiable in uv and nitrous acid. (author)

  15. Cleft lip and palate in the arts: a critical reflection.

    Science.gov (United States)

    Saman, Masoud; Gross, Justin; Ovchinsky, Alexander; Wood-Smith, Donald

    2012-03-01

    The aesthetics of facial structure are used by humans to measure one's beauty, character, and overall "goodness." Individuals born with cleft lip and/or palate are often stigmatized and face much psychosocial adversity. Social attitudes and beliefs have a direct impact upon the psychological development of these individuals. Such social norms are in large part shaped by the physical representations of "good" and "attractive" in various art media including films, advertisements, and paintings. Individuals born with a cleft have been portrayed in the artworks of different eras. The light in which they are portrayed stems from the prevalent beliefs of each period and sheds light on the social attitudes of each epoch toward clefts. Here we discuss the social and psychological ramifications of these works. We then review several artworks representing cleft lip and/or palate and propose an active role for the artist in shaping social attitudes regarding facial deformities. Numerous articles and works of arts were examined and inspected for signs of facial deformity, with particular attention to cleft lip and/or palate. Social media have an important role in defining the norms of society. Much of the art of the past has depicted negatively individuals born with cleft lip and/or palate deformity, thus excluding them from the norm. In order to decrease the negative social stigmas of cleft lip and/or palate, it is now the responsibility of society to widen its range of norms to include individuals born with these deformities through "normal" representations in the various media.

  16. PREVALENCE OF CLEFT LIP AND PALATE IN GEORGIA.

    Science.gov (United States)

    Chincharadze, S; Vadachkoria, Z; Mchedlishvili, I

    2017-01-01

    Cleft lip and palate take significant place in congenital malformations. We aimed to study epidemiological peculiarities of these pathologies in Georgia for 2006-2015. We compared magnitude of its distribution with the data from 1981-1990. Prevalence of cleft lip and palate in Georgia in 2006-2015 was 0.95±0.04 per 1000 live births, while in 1981-1990- it was 1.05, i.e. in contrast to 1980's frequency of these pathological conditions decreased to some extent. Distribution of cleft lip and palate varies across the country regions. The most intensive spread has been observed in Mtskheta-Mtianeti region, where prevalence composed 2.28/1000. In the rest of the regions frequency of these pathologies is significantly lower. For instance, in Kakheti the rate is equal to 1,87/1000, in Kvemo Kartli - 1.56/1000, in Shida Kartli - 1.55/1000. In the rest of the regions prevalence rate is lower than the country average. It should be noted that in Tbilisi the rate is as low as 0.80/1000. The lowest level has been reported in Guria - 0.56/1000. Currently cleft lip with palate is the most frequently occurring anomaly in Georgia accounting for 39.8% of all congenital malformations. Cleft lip alone ranks the second - 36.1%, followed by cleft palate (24.1%). These pathologies are more frequent in boys than in girls. 60.3% of the cases are reported in males, in contrast to girls - 39.7% (pcleft palate is the most common among girls, but in our case, it had higher prevalence among boys, 53.6% vs. 46,4%. Thus cleft lip and palate distribution in Georgia is characterized by epidemiological peculiarities, which should be considered in implementation of preventive measures.

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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

  19. Unilateral cleft lip and palate : treatment outcome and long-term craniofacial growth

    NARCIS (Netherlands)

    Nollet, Petrus Josephus Paulinus Maria

    2006-01-01

    Treatment results of children with a complete Unilateral Cleft Lip and Palate (UCLP) from the Cleft Palate Craniofacial Unit of the Radboud University Nijmegen Medical Centre were evaluated and compared with prominent European cleft centers. Treatment outcome of the Nijmegen patients with UCLP and

  20. Speech and language development in toddlers with and without cleft palate

    NARCIS (Netherlands)

    Priester, G. H.; Goorhuis-Brouwer, S. M.

    Objective: The effect of early palate closure on speech and language development in children with cleft palate. Design: Comparative study. Setting: University Medical Center Groningen, Cleft Palate Team (The Netherlands). Materials and methods: Forty-three toddlers with cleft palate and thirty-two

  1. Oral Clefting in China Over the Last Decade: 205,679 Patients

    Directory of Open Access Journals (Sweden)

    Rochelle R. Kling, MD

    2014-10-01

    Conclusions: This study provides insight into cleft care in China as it reports the largest cohort of cleft patients treated by surgeons to date. Our results generally follow trends previously reported in China and developed countries. The male:female ratio for cleft palate patients was higher than expected. The average age at primary repair is higher than recommended, but seems to be decreasing.

  2. Morphological evaluation of clefts of the lip, palate, or both in dogs.

    Science.gov (United States)

    Peralta, Santiago; Fiani, Nadine; Kan-Rohrer, Kimi H; Verstraete, Frank J M

    2017-08-01

    OBJECTIVE To systematically characterize the morphology of cleft lip, cleft palate, and cleft lip and palate in dogs. ANIMALS 32 client-owned dogs with clefts of the lip (n = 5), palate (23), or both (4) that had undergone a CT or cone-beam CT scan of the head prior to any surgical procedures involving the oral cavity or face. PROCEDURES Dog signalment and skull type were recorded. The anatomic form of each defect was characterized by use of a widely used human oral-cleft classification system on the basis of CT findings and clinical images. Other defect morphological features, including shape, relative size, facial symmetry, and vomer involvement, were also recorded. RESULTS 9 anatomic forms of cleft were identified. Two anatomic forms were identified in the 23 dogs with cleft palate, in which differences in defect shape and size as well as vomer abnormalities were also evident. Seven anatomic forms were observed in 9 dogs with cleft lip or cleft lip and palate, and most of these dogs had incisive bone abnormalities and facial asymmetry. CONCLUSIONS AND CLINICAL RELEVANCE The morphological features of congenitally acquired cleft lip, cleft palate, and cleft lip and palate were complex and varied among dogs. The features identified here may be useful for surgical planning, developing of clinical coding schemes, or informing genetic, embryological, or clinical research into birth defects in dogs and other species.

  3. 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.

  4. Early Predictors of Attachment in Infants with Cleft Lip and/or Palate.

    Science.gov (United States)

    Speltz, Matthew L.; And Others

    1997-01-01

    Examined attachment classification of children with cleft lip and palate (CLP) and isolated cleft palate (ICP) and comparison group at 12 months of age; found no significant differences. Findings suggest that infants with clefts, despite special needs and caregiving requirements, seem not to have elevated risk for insecure attachments at the end…

  5. 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 ...

  6. 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…

  7. What does magnetic resonance imaging add to the prenatal ultrasound diagnosis of facial clefts?

    Science.gov (United States)

    Mailáth-Pokorny, M; Worda, C; Krampl-Bettelheim, E; Watzinger, F; Brugger, P C; Prayer, D

    2010-10-01

    Ultrasound is the modality of choice for prenatal detection of cleft lip and palate. Because its accuracy in detecting facial clefts, especially isolated clefts of the secondary palate, can be limited, magnetic resonance imaging (MRI) is used as an additional method for assessing the fetus. The aim of this study was to investigate the role of fetal MRI in the prenatal diagnosis of facial clefts. Thirty-four pregnant women with a mean gestational age of 26 (range, 19-34) weeks underwent in utero MRI, after ultrasound examination had identified either a facial cleft (n = 29) or another suspected malformation (micrognathia (n = 1), cardiac defect (n = 1), brain anomaly (n = 2) or diaphragmatic hernia (n = 1)). The facial cleft was classified postnatally and the diagnoses were compared with the previous ultrasound findings. There were 11 (32.4%) cases with cleft of the primary palate alone, 20 (58.8%) clefts of the primary and secondary palate and three (8.8%) isolated clefts of the secondary palate. In all cases the primary and secondary palate were visualized successfully with MRI. Ultrasound imaging could not detect five (14.7%) facial clefts and misclassified 15 (44.1%) facial clefts. The MRI classification correlated with the postnatal/postmortem diagnosis. In our hands MRI allows detailed prenatal evaluation of the primary and secondary palate. By demonstrating involvement of the palate, MRI provides better detection and classification of facial clefts than does ultrasound alone. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd.

  8. 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...

  9. Reversible Statistics

    DEFF Research Database (Denmark)

    Tryggestad, Kjell

    2004-01-01

    The study aims is to describe how the inclusion and exclusion of materials and calculative devices construct the boundaries and distinctions between statistical facts and artifacts in economics. My methodological approach is inspired by John Graunt's (1667) Political arithmetic and more recent work...... within constructivism and the field of Science and Technology Studies (STS). The result of this approach is here termed reversible statistics, reconstructing the findings of a statistical study within economics in three different ways. It is argued that all three accounts are quite normal, albeit...... in different ways. The presence and absence of diverse materials, both natural and political, is what distinguishes them from each other. Arguments are presented for a more symmetric relation between the scientific statistical text and the reader. I will argue that a more symmetric relation can be achieved...

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  11. 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.

  12. First branchial cleft anomaly, a case for misdiagnosis.

    Science.gov (United States)

    Lanisnik, Bostjan; Didanovic, Vojko; Cizmarevic, Bogdan

    2004-01-01

    First branchial cleft anomaly is a rare condition that is often misdiagnosed and falsely mistreated before complete and definitive surgical treatment. Its origin is uncertain and the presence of ectodermal and sometimes also mesodermal elements has led some authors to the conclusion that it represents buried nests of cells forming the first branchial cleft and the underlying mesoderm. First branchial cleft anomaly can be presented as a cystic lesion, fistula or sinus extending towards the membranous external ear canal. The sinus tract runs through the parotid gland in close association with the facial nerve. There is no imaging method capable of identifying a first branchial cleft anomaly with certainty. The danger of facial nerve injury during surgery and the failure to identify the sinus tract running to the external ear canal are the main reasons for incomplete excision. The facial nerve must be identified and preserved and the lesion completely excised. Facial nerve injury is more common in attempts to remove recurrent branchial cleft lesions.

  13. Association between maternal smoking, gender, and cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Daniella Reis Barbosa Martelli

    2015-10-01

    Full Text Available ABSTRACT INTRODUCTION: Cleft lip and/or palate (CL/P represent the most common congenital anomalies of the face. OBJECTIVE: To assess the relationship between maternal smoking, gender and CL/P. METHODS: This is an epidemiological cross-sectional study. We interviewed 1519 mothers divided into two groups: Cases: mothers of children with CL/P (n = 843 and Controls: mothers of children without CL/P (n = 676. All mothers were classified as smoker or non-smoker subjects during the first trimester of pregnancy. To determine an association among maternal smoking, gender, and CL/P, odds ratios were calculated and the adjustment was made by a logistic regression model. RESULTS: An association between maternal smoking and the presence of cleft was observed. There was also a strong association between male gender and the presence of cleft (OR = 3.51; 95% CI 2.83-4.37. By binary logistic regression analysis, it was demonstrated that both variables were independently associated with clefts. In a multivariate analysis, male gender and maternal smoking had a 2.5- and a 1.5-time greater chance of having a cleft, respectively. CONCLUSION: Our findings are consistent with a positive association between maternal smoking during pregnancy and CL/P in male gender. The results support the importance of smoking prevention and introduction of cessation programs among women with childbearing potential.

  14. Association between maternal smoking, gender, and cleft lip and palate.

    Science.gov (United States)

    Martelli, Daniella Reis Barbosa; Coletta, Ricardo D; Oliveira, Eduardo A; Swerts, Mário Sérgio Oliveira; Rodrigues, Laíse A Mendes; Oliveira, Maria Christina; Martelli Júnior, Hercílio

    2015-01-01

    Cleft lip and/or palate (CL/P) represent the most common congenital anomalies of the face. To assess the relationship between maternal smoking, gender and CL/P. This is an epidemiological cross-sectional study. We interviewed 1519 mothers divided into two groups: mothers of children with CL/P (n=843) and mothers of children without CL/P (n=676). All mothers were classified as smoker or non-smoker subjects during the first trimester of pregnancy. To determine an association among maternal smoking, gender, and CL/P, odds ratios were calculated and the adjustment was made by a logistic regression model. An association between maternal smoking and the presence of cleft was observed. There was also a strong association between male gender and the presence of cleft (OR=3.51; 95% CI 2.83-4.37). By binary logistic regression analysis, it was demonstrated that both variables were independently associated with clefts. In a multivariate analysis, male gender and maternal smoking had a 2.5- and a 1.5-time greater chance of having a cleft, respectively. Our findings are consistent with a positive association between maternal smoking during pregnancy and CL/P in male gender. The results support the importance of smoking prevention and introduction of cessation programs among women with childbearing potential. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  15. Presurgical cleft lip and palate orthopedics: an overview

    Science.gov (United States)

    Alzain, Ibtesam; Batwa, Waeil; Cash, Alex; Murshid, Zuhair A

    2017-01-01

    Patients with cleft lip and/or palate go through a lifelong journey of multidisciplinary care, starting from before birth and extending until adulthood. Presurgical orthopedic (PSO) treatment is one of the earliest stages of this care plan. In this paper we provide a review of the PSO treatment. This review should help general and specialist dentists to better understand the cleft patient care path and to be able to answer patient queries more efficiently. The objectives of this paper were to review the basic principles of PSO treatment, the various types of techniques used in this therapy, and the protocol followed, and to critically evaluate the advantages and disadvantages of some of these techniques. In conclusion, we believe that PSO treatment, specifically nasoalveolar molding, does help to approximate the segments of the cleft maxilla and does reduce the intersegment space in readiness for the surgical closure of cleft sites. However, what we remain unable to prove equivocally at this point is whether the reduction in the dimensions of the cleft presurgically and the manipulation of the nasal complex benefit our patients in the long term. PMID:28615974

  16. MRI findings of fetal cleft lip and palate

    International Nuclear Information System (INIS)

    Wang Guangbin; Chen Liguang; Zhu Xiangyu; Wang Cuiyan; Zhang Yinghua; Wang Liajuan; Li Huihua; Qiu Xiuling; Qu Lei; Wei Yulong; Ding Rui; Sun Xueqin

    2010-01-01

    Objective: To investigate the MR findings of fetal cleft lip (CL) and evaluate the advantages and limitations of MRI in the diagnosis. Methods: Twelve pregnant women suspicious of fetal CL/cleft palate (CP) on ultrasonography were enrolled in the study. The findings of ultrasonography, MRI and following-up were compared. Results: MRI and ultrasonography detected 12 fetuses with CL/CP. The following-up results showed 1 case with incomplete cleft lip and the other 11 cases with complete cleft lips and cleft palates. MRI and unltrasonography were consistent with the follow-up in CL detection, showing completed or uncompleted soft tissue interruption of the fetal lips with amniotic fluid filling which is high signal on T 2 WI. On MRI, CP showed discontinuous of the soft tissue which were interrupted by long T 2 signal and communicating with oral cavity ad nasal cavity. MRI missed 1 case and excluded 1 case of CP. Ultrasonography predicted 5 case of CL, excluded 1 CP but missed 6 cases. The accuracy, sensitivity and specificity in detection CL/CP was 91.7% (11/12), 90.9% (10/11), 100% (1/1) for MRI and 50.0% (6/12), 45.5% (5/11), 100% (1/1) for ultrasonography, respectively. Conclusion: MR imaging had advantage over ultrasonography in detecting CP, MRI is an essential when CP is suspicious on ultrasonography. (authors)

  17. Causal attributions of cleft lip and palate across cultures.

    Science.gov (United States)

    Mednick, Lauren; Snyder, Julie; Schook, Carolyn; Blood, Emily A; Brown, Shan-Estelle; Weatherley-White, R C A

    2013-11-01

    Objective : To describe and compare the causal beliefs associated with cleft lips and/or palates across several different countries. Design : Cross-sectional survey. Setting : Operation Smile surgery screenings in six developing countries. Participants : Two hundred seventy-nine adult patients and parents of children with cleft lips and/or palates in Kenya, Russia, Cambodia, India, Egypt, and Peru. Interventions : In person interviews were conducted with interpreters. Main Outcome Measure : As part of a larger study, a semistructured questionnaire was created to explore cleft perceptions, belief systems that affect these perceptions, and social reactions to individuals with clefts. Results : Causal attributions were grouped by category (environment, self-blame, supernatural, chance, unknown, or other) and type of locus of control (external, internal, or unknown). Results indicate significant difference by country for both causal attribution category (P < .001) and type (P < .001). This difference was maintained in multivariate analyses, which controlled for differences by demographic variables between countries. Conclusions : This study provides evidence that causal attributions for clefts are influenced by culture. As harmful beliefs about cause may continue to impact affected individuals and their families even after a repair, it is insufficient to provide surgical care alone. Care of the entire person must include attempts to change misinformed cultural beliefs through educating the broader community.

  18. Activation of Notch1 inhibits medial edge epithelium apoptosis in all-trans retinoic acid-induced cleft palate in mice

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Yadong; Dong, Shiyi; Wang, Weicai; Wang, Jianning [Department of Oral and Maxillofacial Surgery, Guanghua School of Stomatology, Hospital of Stomatology, Sun Yat-sen University, Guangzhou, Guangdong 510055 (China); Guangdong Provincial Key Laboratory of Stomatology, Sun Yat-sen University, Guangzhou, Guangdong 510055 (China); Wang, Miao [Department of Oral and Maxillofacial Surgery, Kiang Wu Hospital, Macao (China); Chen, Mu [Department of Stomatology, Nanshan Affiliated Hospital of Guangdong Medical College, Shenzhen (China); Hou, Jinsong [Department of Oral and Maxillofacial Surgery, Guanghua School of Stomatology, Hospital of Stomatology, Sun Yat-sen University, Guangzhou, Guangdong 510055 (China); Guangdong Provincial Key Laboratory of Stomatology, Sun Yat-sen University, Guangzhou, Guangdong 510055 (China); Huang, Hongzhang, E-mail: drhuang52@163.com [Department of Oral and Maxillofacial Surgery, Guanghua School of Stomatology, Hospital of Stomatology, Sun Yat-sen University, Guangzhou, Guangdong 510055 (China); Guangdong Provincial Key Laboratory of Stomatology, Sun Yat-sen University, Guangzhou, Guangdong 510055 (China)

    2016-08-26

    Administration of all-trans retinoic acid (atRA) on E12.0 (embryonic day 12.0) leads to failure of medial edge epithelium (MEE) disappearance and cleft palate. However, the molecular mechanism underlying the relationship between atRA and MEE remains to be identified. In this study, atRA (200 mg/kg) administered by gavage induced a 75% incidence of cleft palate in C57BL/6 mice. Notch1 was up-regulated in MEE cells in the atRA-treated group compared with the controls at E15.0, together with reduced apoptosis and elevated proliferation. Next, we investigated the mechanisms underlying atRA, Notch1 and MEE degradation in palate organ culture. Our results revealed that down-regulation of Notch1 partially rescued the inhibition of atRA-induced palate fusion. Molecular analysis indicated that atRA increased the expression of Notch1 and Rbpj and decreased the expression of P21. In addition, depletion of Notch1 expression decreased the expression of Rbpj and increased the expression of P21. Moreover, inhibition of Rbpj expression partially reversed atRA-induced MEE persistence and increased P21 expression. These findings demonstrate that atRA inhibits MEE degradation, which in turn induces a cleft palate, possibly through the Notch1/RBPjk/P21 signaling pathway. - Highlights: • atRA exposure on E12.0 induced MEE persistence and cleft palate. • Notch1 was up-regulated in MEE cells in the atRA-treated embryos. • atRA inhibits MEE degradation, which in turn induces cleft palate, possibly through the Notch1/RBPjk/P21 signaling pathway.

  19. Activation of Notch1 inhibits medial edge epithelium apoptosis in all-trans retinoic acid-induced cleft palate in mice

    International Nuclear Information System (INIS)

    Zhang, Yadong; Dong, Shiyi; Wang, Weicai; Wang, Jianning; Wang, Miao; Chen, Mu; Hou, Jinsong; Huang, Hongzhang

    2016-01-01

    Administration of all-trans retinoic acid (atRA) on E12.0 (embryonic day 12.0) leads to failure of medial edge epithelium (MEE) disappearance and cleft palate. However, the molecular mechanism underlying the relationship between atRA and MEE remains to be identified. In this study, atRA (200 mg/kg) administered by gavage induced a 75% incidence of cleft palate in C57BL/6 mice. Notch1 was up-regulated in MEE cells in the atRA-treated group compared with the controls at E15.0, together with reduced apoptosis and elevated proliferation. Next, we investigated the mechanisms underlying atRA, Notch1 and MEE degradation in palate organ culture. Our results revealed that down-regulation of Notch1 partially rescued the inhibition of atRA-induced palate fusion. Molecular analysis indicated that atRA increased the expression of Notch1 and Rbpj and decreased the expression of P21. In addition, depletion of Notch1 expression decreased the expression of Rbpj and increased the expression of P21. Moreover, inhibition of Rbpj expression partially reversed atRA-induced MEE persistence and increased P21 expression. These findings demonstrate that atRA inhibits MEE degradation, which in turn induces a cleft palate, possibly through the Notch1/RBPjk/P21 signaling pathway. - Highlights: • atRA exposure on E12.0 induced MEE persistence and cleft palate. • Notch1 was up-regulated in MEE cells in the atRA-treated embryos. • atRA inhibits MEE degradation, which in turn induces cleft palate, possibly through the Notch1/RBPjk/P21 signaling pathway.

  20. Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.

    Directory of Open Access Journals (Sweden)

    Zena T Wolf

    2015-03-01

    Full Text Available Cleft lip with or without cleft palate (CL/P is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.1 x 10(-13; adjusted p= 2.2 x 10(-3. Further analysis in NSDTR families and additional full sibling cases identified a 1.44 Mb homozygous haplotype (chromosome 27: 9.29 - 10.73 Mb segregating with a more complex phenotype of cleft lip, cleft palate, and syndactyly (CLPS in 13 cases. Whole-genome sequencing of 3 CLPS cases and 4 controls at 15X coverage led to the discovery of a frameshift mutation within ADAMTS20 (c.1360_1361delAA (p.Lys453Ilefs*3, which segregated concordant with the phenotype. In a parallel study in humans, a family-based association analysis (DFAM of 125 CL/P cases, 420 unaffected relatives, and 392 controls from a Guatemalan cohort, identified a suggestive association (rs10785430; p =2.67 x 10-6 with the same gene, ADAMTS20. Sequencing of cases from the Guatemalan cohort was unable to identify a causative mutation within the coding region of ADAMTS20, but four coding variants were found in additional cases of CL/P. In summary, this study provides genetic evidence for a role of ADAMTS20 in CL/P development in dogs and as a candidate gene for CL/P development in humans.

  1. Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.

    Science.gov (United States)

    Wolf, Zena T; Brand, Harrison A; Shaffer, John R; Leslie, Elizabeth J; Arzi, Boaz; Willet, Cali E; Cox, Timothy C; McHenry, Toby; Narayan, Nicole; Feingold, Eleanor; Wang, Xioajing; Sliskovic, Saundra; Karmi, Nili; Safra, Noa; Sanchez, Carla; Deleyiannis, Frederic W B; Murray, Jeffrey C; Wade, Claire M; Marazita, Mary L; Bannasch, Danika L

    2015-03-01

    Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR) breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.1 x 10(-13); adjusted p= 2.2 x 10(-3)). Further analysis in NSDTR families and additional full sibling cases identified a 1.44 Mb homozygous haplotype (chromosome 27: 9.29 - 10.73 Mb) segregating with a more complex phenotype of cleft lip, cleft palate, and syndactyly (CLPS) in 13 cases. Whole-genome sequencing of 3 CLPS cases and 4 controls at 15X coverage led to the discovery of a frameshift mutation within ADAMTS20 (c.1360_1361delAA (p.Lys453Ilefs*3)), which segregated concordant with the phenotype. In a parallel study in humans, a family-based association analysis (DFAM) of 125 CL/P cases, 420 unaffected relatives, and 392 controls from a Guatemalan cohort, identified a suggestive association (rs10785430; p =2.67 x 10-6) with the same gene, ADAMTS20. Sequencing of cases from the Guatemalan cohort was unable to identify a causative mutation within the coding region of ADAMTS20, but four coding variants were found in additional cases of CL/P. In summary, this study provides genetic evidence for a role of ADAMTS20 in CL/P development in dogs and as a candidate gene for CL/P development in humans.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  4. Midline cervical cleft: a rare congenital anomaly.

    Science.gov (United States)

    Renukaswamy, Gayathri Mandya; Soma, Marlene A; Hartley, Benjamin E J

    2009-11-01

    A midline cervical cleft (MCC) is a rare congenital anomaly due to failure of fusion of the first and second branchial arches during embryogenesis. It may present as a midline defect of the anterior neck skin with a skin projection or sinus, or as a subcutaneous fibrous cord. This report evaluates the clinical features and surgical management of an MCC. We analyzed a series of 4 patients with an MCC successfully treated at Great Ormond Street Hospital for Children in London. Three male patients and 1 female patient between 4 and 11 months of age were found to have an MCC. Each patient presented with an erythematous, fibrous band of tissue extending between the chin and the suprasternal notch. Treatment comprised surgical excision of the lesion and Z-plasty repair. We present the embryology, common clinical presentation, investigations, differential diagnosis, and histology, along with a literature review, of this uncommon malformation of the anterior neck. An MCC is a differential diagnosis to consider when assessing a child with a midline cervical lesion. Early surgical excision with Z-plasty repair of the soft tissue defect is the treatment of choice to prevent long-term complications.

  5. Cell-based multi-parametric model of cleft progression during submandibular salivary gland branching morphogenesis.

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    Shayoni Ray

    Full Text Available Cleft formation during submandibular salivary gland branching morphogenesis is the critical step initiating the growth and development of the complex adult organ. Previous experimental studies indicated requirements for several epithelial cellular processes, such as proliferation, migration, cell-cell adhesion, cell-extracellular matrix (matrix adhesion, and cellular contraction in cleft formation; however, the relative contribution of each of these processes is not fully understood since it is not possible to experimentally manipulate each factor independently. We present here a comprehensive analysis of several cellular parameters regulating cleft progression during branching morphogenesis in the epithelial tissue of an early embryonic salivary gland at a local scale using an on lattice Monte-Carlo simulation model, the Glazier-Graner-Hogeweg model. We utilized measurements from time-lapse images of mouse submandibular gland organ explants to construct a temporally and spatially relevant cell-based 2D model. Our model simulates the effect of cellular proliferation, actomyosin contractility, cell-cell and cell-matrix adhesions on cleft progression, and it was used to test specific hypotheses regarding the function of these parameters in branching morphogenesis. We use innovative features capturing several aspects of cleft morphology and quantitatively analyze clefts formed during functional modification of the cellular parameters. Our simulations predict that a low epithelial mitosis rate and moderate level of actomyosin contractility in the cleft cells promote cleft progression. Raising or lowering levels of contractility and mitosis rate resulted in non-progressive clefts. We also show that lowered cell-cell adhesion in the cleft region and increased cleft cell-matrix adhesions are required for cleft progression. Using a classifier-based analysis, the relative importance of these four contributing cellular factors for effective cleft

  6. Experimental evolution and the dynamics of genomic mutation rate modifiers.

    Science.gov (United States)

    Raynes, Y; Sniegowski, P D

    2014-11-01

    Because genes that affect mutation rates are themselves subject to mutation, mutation rates can be influenced by natural selection and other evolutionary forces. The population genetics of mutation rate modifier alleles has been a subject of theoretical interest for many decades. Here, we review experimental contributions to our understanding of mutation rate modifier dynamics. Numerous evolution experiments have shown that mutator alleles (modifiers that elevate the genomic mutation rate) can readily rise to high frequencies via genetic hitchhiking in non-recombining microbial populations. Whereas these results certainly provide an explanatory framework for observations of sporadically high mutation rates in pathogenic microbes and in cancer lineages, it is nonetheless true that most natural populations have very low mutation rates. This raises the interesting question of how mutator hitchhiking is suppressed or its phenotypic effect reversed in natural populations. Very little experimental work has addressed this question; with this in mind, we identify some promising areas for future experimental investigation.

  7. Lexical selectivity in Danish toddlers with cleft palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth

    2013-01-01

    . Methods: All participants were video recorded at 18 months of age during play interaction with a parent. The video recordings were transcribed according to the IPA and an individual consonant inventory was established for each participant. The video recordings were also analysed with respect to word...... productions establishing an observed productive vocabulary size for each participant. Results: At 18 months of age Danish toddlers with cleft palate showed marked lexical selectivity in their early words. The distribution of consonant classes observed at 11 months of age in a previous study of the children...... as it has been described for English speaking toddlers with and without cleft palate, even though some qualitative differences were found. Keywords: consonant inventory, lexical selectivity, early words, cleft palate....

  8. Fixed prosthetic treatment in patients with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Bajevska Jagoda

    2017-01-01

    Full Text Available Introduction. The prosthetic treatment of patients with cleft palate includes various treatment options such as fixed partial dentures, removable partial prosthesis, etc. The type of prosthetic appliance is determined by the oral health of each individual and the circumstances. We presented three adult patients with the cleft lip and palate subjected to prosthetic treatment. Case report. From the possible prosthetic solutions according to the conditions in the oral cavity and the circumstances, fixed partial dentures veneered with composite or ceramic were chosen. A proper relationship between the teeth was reached with the fixed partial dentures, and function established, the phonetics improved and satisfying aesthetics effect accomplished improving the profile appearance of the patient’s face. Plastic surgery of the nose was performed after that. Conclusion. Multidisclipinary treatment is necessary for favourable long-term outcome in cleft lip and palate patients.

  9. A rare variant of first branchial cleft fistula.

    Science.gov (United States)

    Ramnani, S; Mungutwar, V; Goyal, N K; Bansal, A

    2009-12-01

    We report an extremely rare variant of first branchial cleft anomaly. A 15-year-old girl presented with a history of recurrent mucopurulent discharge from an opening in the left infra-auricular region, since birth. Computed tomography fistulography showed a tortuous tract measuring approximately 4.61 cm, extending anteroinferiorly and medially from the external inframeatal opening to the lateral nasopharyngeal wall (anterior to the fossa of Rosenmuller). The tract was connected to the deep lobe of the parotid gland and lay 0.67 cm anterior to the carotid artery and posterior to the medial pterygoid muscle. This was an extremely rare variant of first branchial cleft fistula. To the best of our knowledge, this is the first case of its type to be reported. Computed tomography fistulography is the imaging modality of choice for the diagnosis of branchial cleft fistula, and will also assist surgical planning.

  10. Facial tissue depths in children with cleft lip and palate.

    Science.gov (United States)

    Starbuck, John M; Ghoneima, Ahmed; Kula, Katherine

    2015-03-01

    Cleft lip and palate (CLP) is a craniofacial malformation affecting more than seven million people worldwide that results in defects of the hard palate, teeth, maxilla, nasal spine and floor, and maxillodental asymmetry. CLP facial soft-tissue depth (FSTD) values have never been published. The purpose of this research is to report CLP FSTD values and compare them to previously published FSTD values for normal children. Thirty-eight FSTDs were measured on cone beam computed tomography images of CLP children (n = 86; 7-17 years). MANOVA and ANOVA tests determined whether cleft type, age, sex, and bone graft surgical status affect tissue depths. Both cleft type (unilateral/bilateral) and age influence FSTDs. CLP FSTDs exhibit patterns of variation that differ from normal children, particularly around the oronasal regions of the face. These differences should be taken into account when facial reconstructions of children with CLP are created. © 2014 American Academy of Forensic Sciences.

  11. Ethics in Numbers: Auditing Cleft Treatment in Mexico and Beyond.

    Science.gov (United States)

    Taylor-Alexander, Samuel

    2017-09-01

    Plastic surgeons around the globe are implementing projects that mix audit with medical research to ensure and improve the level of care offered to patients with cleft lip and palate. Drawing on recent literature on "audit culture" and the global growth of "performance indicators" as a form of governance, I demonstrate the conjugation of ethics and the production of numerical indicators in cleft treatment. By standardizing documentation, cleft treatment audit programs facilitate evidence-based medicine and a form of reflexive self-governance. However, the abstraction that accompanies standardization is amplified as corollary data practices travel. In emerging as the answer to improving treatment, these projects lock out the politico-economic factors that mediate medical care in resource poor settings. This danger is compounded by the tendency of numerical governance to replace political conversation with technocratic expertise. © 2016 by the American Anthropological Association.

  12. Cleft Palate Fistula Closure Utilizing Acellular Dermal Matrix

    Directory of Open Access Journals (Sweden)

    Omri Emodi, DMD

    2018-03-01

    Full Text Available Summary:. Fistulas represent failure of cleft palate repair. Secondary and tertiary fistula repair is challenging, with high recurrence rates. In the present retrospective study, we review the efficacy of using acellular dermal matrix as an interposition layer for cleft palate fistula closure in 20 consecutive patients between 2013 and 2016. Complete fistula closure was obtained in 16 patients; 1 patient had asymptomatic recurrent fistula; 2 patients had partial closure with reduction of fistula size and minimal nasal regurgitation; 1 patient developed a recurrent fistula without changes in symptoms (success rate of 85%. We conclude that utilizing acellular dermal matrix for cleft palate fistula repair is safe and simple with a high success rate.

  13. Common dental anomalies in cleft lip and palate patients.

    Science.gov (United States)

    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.

  14. The value of multislice spiral CT in the pre-operative diagnosis of cleft palate

    International Nuclear Information System (INIS)

    Tang Guangxi; Sun Lianfen; Zhang Xiaolin; Yu Chengxin; Lu Ji; Wang Xiaopeng; Li Liya; Yang Cheng; Wang Jun; Tian Yiqing

    2004-01-01

    Objective: To evaluate the practical value of multislice spiral CT (MSCT) in the preoperative diagnosis of cleft palate. Methods: Twenty patients with cleft palate were examined by using thin-slice (1.25 mm/4i) axial MSCT scanning and CT virtual endoscope (CTVE) imaging before and after operations. The cleft of each lesion was measured in the primary axial images. Results: Of the 20 cases, soft-and-hard cleft palate (grade II) was detected in 10 cases, with the clefts of soft palate between 1.5 cm and 2.2 cm, and the clefts of soft-and-hard palate between 1.2 cm and 2.0 cm. The right utter cleft palates were found in 3 cases with the clefts of soft palate between 2.0 cm and 2.5 cm, the clefts of soft-and-hard palate between 2.0 cm and 2.4 cm, and the clefts of hard palate between 1.8 cm and 2.2 cm. The left utter cleft palates (grade III) were found in 5 cases with the clefts of soft palate between 1.2 cm and 1.8 cm, the clefts of soft-and-hard palate between 0.9 cm and 2.0 cm, and the clefts of hard palate between 0.9 cm and 1.8 cm. The bilateral utter cleft palates (grade III) were detected in 2 cases with the clefts of soft palate between 2.1 cm and 2.3 cm, the clefts of soft-and-hard palate between 1.8 cm and 2.0 cm, and the clefts of hard palate between 1.9 cm and 2.3 cm. Conclusion: MSCT could excellently display the shape of all lesions before operation, especially the splitting degree of hard cleft palates in the axial images. Accurate measurements could be done for the cleft of different lesions in MSCT images. CTVE could clearly and directly show the shape of the lesion's interior surface. The pre-operative and post-operative images of each case could be perfectly compared by the combination of MSCT and CTVE

  15. Management of an infant with cleft lip and palate with phocomelia in dental practice.

    Science.gov (United States)

    Muthu, M S

    2000-12-01

    Cleft lip and palate is a severe birth defect occurring approximately one in 800-1000 newborn infants. The incidence varies widely among races. Cleft lip and palate together account for approximately 50% of all cases whereas isolated cleft lip and isolated cleft palate occur in about 25% of cases. Many of these congenital anomalies appear to be genetically determined though the majority are of unknown causes or teratogenic influences. Presented here is a 3 day old infant with bilateral cleft lip and palate and phocomelia for whom a feeding obturator was made and delivered to facilitate feeding.

  16. Tessier 3 Cleft in a Pre-Hispanic Anthropomorphic Figurine in El Salvador, Central America.

    Science.gov (United States)

    Aleman, Ramon Manuel; Martinez, Maria Guadalupe

    2017-03-01

    In 1976, Paul Tessier provided a numerical classification system for rare facial clefts, numbered from 0 to 14. The Tessier 3 cleft is a rare facial cleft extending from the philtrum of the upper lip through the wing of the nostril, and reaches the medial canthus of the eye. The aim of this document was to describe a pre-Hispanic anthropomorphic figurine dating from the classic period (200 A.D.-900 A.D.), which has a Tessier 3 cleft. We also discuss the documented pre-Hispanic beliefs about facial clefts.

  17. Oblique lip-alveolar banding in patients with cleft lip and palate.

    Science.gov (United States)

    Naidoo, S; Bütow, K-W

    2015-04-01

    We report an oblique lip-alveolar band, a rare banding of soft tissue that involves the lip and alveolus, which we have found in five patients with cleft lip and palate (0.2%), compared with an incidence of the Simonartz lip-lip band of 5.7%). To our knowledge this has not been reported previously. In two patients the bands affected the cleft lip and alveolus bilaterally, with or without the palatal cleft, and in three the bands were unilateral cleft lip and alveolus with or without the palatal cleft. Copyright © 2015 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  18. Reversion of the Arabidopsis rpn12a-1 exon-trap mutation by an intragenic suppressor that weakens the chimeric 5’ splice site [v2; ref status: indexed, http://f1000r.es/18y

    Directory of Open Access Journals (Sweden)

    Jasmina Kurepa

    2013-06-01

    Full Text Available Background: In the Arabidopsis 26S proteasome mutant rpn12a-1, an exon-trap T-DNA is inserted 531 base pairs downstream of the RPN12a STOP codon. We have previously shown that this insertion activates a STOP codon-associated latent 5' splice site that competes with the polyadenylation signal during processing of the pre-mRNA. As a result of this dual input from splicing and polyadenylation in the rpn12a-1 mutant, two RPN12a transcripts are produced and they encode the wild-type RPN12a and a chimeric RPN12a-NPTII protein. Both proteins form complexes with other proteasome subunits leading to the formation of wild-type and mutant proteasome versions. The net result of this heterogeneity of proteasome particles is a reduction of total cellular proteasome activity. One of the consequences of reduced proteasomal activity is decreased sensitivity to the major plant hormone cytokinin. Methods: We performed ethyl methanesulfonate mutagenesis of rpn12a-1 and isolated revertants with wild-type cytokinin sensitivity. Results: We describe the isolation and analyses of suppressor of rpn12a-1 (sor1. The sor1 mutation is intragenic and located at the fifth position of the chimeric intron. This mutation weakens the activated 5' splice site associated with the STOP codon and tilts the processing of the RPN12a mRNA back towards polyadenylation. Conclusions: These results validate our earlier interpretation of the unusual nature of the rpn12a-1 mutation. Furthermore, the data show that optimal 26S proteasome activity requires RPN12a accumulation beyond a critical threshold. Finally, this finding reinforces our previous conclusion that proteasome function is critical for the cytokinin-dependent regulation of plant growth.

  19. Attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of nonsyndromic orofacial clefts in a semiurban set-up in India

    OpenAIRE

    Kadagad, Poornima; Pinto, Pascal; Powar, Rajesh

    2011-01-01

    Objectives: To assess the attitudes of pregnant women and mothers of children with orofacial clefts toward prenatal diagnosis of clefts and elective termination of pregnancy, and to investigate their opinion about who makes reproductive decisions in the family. Design: Two hundred subjects were included in the study prospectively regarding hypothetical prenatal ultrasound diagnosis of clefts. Setting: The study was done in a private tertiary care institution and a teaching hospital. Subjects/...

  20. Psychometric findings and normative values for the CLEFT-Q based on 2434 children and young adult patients with cleft lip and/or palate from 12 countries

    Science.gov (United States)

    Riff, Karen WY Wong; Longmire, Natasha M.; Albert, Asteria; Allen, Gregory C.; Aydin, Mustafa Asim; Baker, Stephen B.; Cano, Stefan J.; Chan, Andrew J.; Courtemanche, Douglas J.; Dreise, Marieke M.; Goldstein, Jesse A.; Goodacre, Timothy E.E.; Harman, Karen E.; Munill, Montserrat; Mahony, Aisling O.; Aguilera, Mirta Palomares; Peterson, Petra; Pusic, Andrea L.; Slator, Rona; Stiernman, Mia; Tsangaris, Elena; Tholpady, Sunil S.; Vargas, Federico; Forrest, Christopher R.

    2018-01-01

    BACKGROUND: Patients with cleft lip and/or palate can undergo numerous procedures to improve appearance, speech, dentition and hearing. We developed a cleft-specific patient-reported outcome instrument to facilitate rigorous international measurement and benchmarking. METHODS: Data were collected from patients aged 8–29 years with cleft lip and/or palate at 30 hospitals in 12 countries between October 2014 and November 2016. Rasch measurement theory analysis was used to refine the scales and to examine reliability and validity. Normative CLEFT-Q values were computed for age, sex and cleft type. RESULTS: Analysis led to the refinement of an eating and drinking checklist and 12 scales measuring appearance (of the face, nose, nostrils, teeth, lips, jaws and cleft lip scar), health-related quality of life (psychological, social, school, speech distress) and speech function. All scales met the requirements of the Rasch model. Analysis to explore differential item functioning by age, sex and country provided evidence to support the use of a common scoring algorithm for each scale for international use. Lower (worse) scores on CLEFT-Q scales were associated with having a speech problem, being unhappy with facial appearance, and needing future cleft-related treatments, providing evidence of construct validity. Normative values for age, sex and cleft type showed poorer outcomes associated with older age, female sex and having a visible cleft. INTERPRETATION: The CLEFT-Q represents a rigorously developed instrument that can be used internationally to collect and compare evidence-based outcomes data from patients aged 8–29 years of age with cleft lip and/or palate. PMID:29661814

  1. The Prevalence of Cleft Lip and Cleft Palate and Related Risk Factors among Iranian Children from 2000 to 2016: a Literature Review

    Directory of Open Access Journals (Sweden)

    Arman Jafari

    2017-04-01

    Full Text Available BackgroundCleft lip and cleft palate (also, known as or facial clefts, are amongst the most common congenital deformities affecting the jaw and face as well as the most common defects associated with lip and palate. Thus, the current study was an attempt to investigate the prevalence and risk factors of or facial clefts in Iranian children.Materials and Methods:The present study, was conducted through a systematic search for articles recorded in the internal database (SID, IranMedex and Magiran, and external authoritative databases (Google scholar, PubMed, Science Direct, MEDLINE, CINAHL and EMBASE using the keywords including "cleft lip", "Iranian", "cleft palate", and "children" from 2000 to 2016. Then, 61 articles were collected. 47 studies with associated incidence or prevalence of cleft lip and cleft palate were included.Results:According to the findings of the review of the studies conducted in Iran, it is revealed that the prevalence of cleft lip and cleft palate was from 0.78 to 2.14 in Iranian children. It was revealed that several factors contributing to the development of this disorder consist of Family history ( P< 0.001, Antibiotics, ( P< 0.001, Stress in the first trimester of pregnancy (P=0.048, BMI before pregnancy (P=0.036 Seasonal factors (P= 0.03, and Consanguineous marriage (P=0.02.ConclusionAccording to the results of the present study, the prevalence of cleft lip and cleft palate is high in Iran in comparison with international studies. Furthermore, the prevalence of this disorder is reported to be higher in males than females. Therefore, it is recommended arrange the practical programs in order to help parents eliminate or diminish the factors that affect the prevalence of this disorder and complications.

  2. Stability after Cleft Maxillary Distraction Osteogenesis or Conventional Orthognathic Surgery

    DEFF Research Database (Denmark)

    Andersen, Kristian; Svenstrup, Martin; Pedersen, Thomas Klit

    2015-01-01

    OBJECTIVES: To compare stability of maxillary advancements in patients with cleft lip and palate following distraction osteogenesis or orthognathic surgery. MATERIAL AND METHODS: INCLUSION CRITERIA: 1) cleft lip and palate, 2) advancement > 8 mm. Eleven patients comprised the distraction...... changed in CONVG. At follow-up (T3), VOB increased in CONVG compared with DOG, (P = 0.01). Vertical position of A point differed between the groups (P = 0.04). No significant intergroup differences between soft tissue parameters occurred. CONCLUSIONS: Distraction osteogenesis resulted in a stable position...

  3. First Branchial Cleft Malformation with Duplication of External Auditory Canal

    Science.gov (United States)

    Parida, Pradipta Kumar; Raja, Kalairasi; Surianarayanan, Gopalakrishnan; Ganeshan, Sivaraman

    2013-01-01

    First branchial cleft anomalies are uncommon, accounting for less than 10% of all branchial abnormalities. Their rare occurrence and varied presentation have frequently led to misdiagnosis and inadequate and inappropriate treatment of these conditions leading to repeated recurrences and secondary infection. In this paper, a case of 11-year girl with type 2 first branchial cleft defect is described. She first presented with a nonhealing ulcer of upper neck from childhood. Diagnosis had previously been missed and treated as tubercular ulcer. We confirmed the correct diagnosis by history and computerized tomography fistulogram. The lesion was completely excised with no further recurrence. PMID:24312740

  4. First Branchial Cleft Malformation with Duplication of External Auditory Canal

    Directory of Open Access Journals (Sweden)

    Pradipta Kumar Parida

    2013-01-01

    Full Text Available First branchial cleft anomalies are uncommon, accounting for less than 10% of all branchial abnormalities. Their rare occurrence and varied presentation have frequently led to misdiagnosis and inadequate and inappropriate treatment of these conditions leading to repeated recurrences and secondary infection. In this paper, a case of 11-year girl with type 2 first branchial cleft defect is described. She first presented with a nonhealing ulcer of upper neck from childhood. Diagnosis had previously been missed and treated as tubercular ulcer. We confirmed the correct diagnosis by history and computerized tomography fistulogram. The lesion was completely excised with no further recurrence.

  5. Simplified feeding appliance for an infant with cleft palate

    Directory of Open Access Journals (Sweden)

    Shaila Masih

    2014-01-01

    Full Text Available A child born with cleft palate may experience difficulties while feeding. Early surgical treatment may need to be postponed until certain age and weight gain of the infant. The case presented here is of a 1-month-old neonate born with cleft palate, assisted with a new feeding appliance made with ethylene vinyl acetate using pressure molding technique to aid in proper feeding. The patient′s weight and health significantly improved after the insertion of obturator. The advantages of this material included being lightweight, moldability, good palatal fit and decreased soft tissue injury.

  6. EEC syndrome sans clefting: Variable clinical presentations in a family

    Directory of Open Access Journals (Sweden)

    Thakkar Sejal

    2007-01-01

    Full Text Available Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly, epiphora, hair changes and deafness with variable involvement in each family member.

  7. Surgical management of cleft lip in pedo-patients.

    Science.gov (United States)

    Taware, C P; Kulkarni, S R

    1991-01-01

    The Present article describes in short etiology of cleft lip and cleft palate. With this in-born defect, patient develops crucial problems with feeding, phonation, overall growth and development of affected and allied soft and hard tissue structures. This in turn results in deformity and asymmetry which is going to affect functional requirements as well as aesthetic outlook. Hence it really becomes mandatory to correct this defect surgically as early as possible, at stipulated timings so as to avoid present and future anticipated problems.

  8. Maxillary growth in a congenital cleft palate canine model for surgical research.

    Science.gov (United States)

    Paradas-Lara, Irene; Casado-Gómez, Inmaculada; Martín, Conchita; Martínez-Sanz, Elena; López-Gordillo, Yamila; González, Pablo; Rodríguez-Bobada, Cruz; Chamorro, Manuel; Arias, Pablo; Maldonado, Estela; Ortega, Ricardo; Berenguer, Beatriz; Martínez-Álvarez, Concepción

    2014-01-01

    We have recently presented the Old Spanish Pointer dog, with a 15-20% spontaneous congenital cleft palate rate, as a unique experimental model of this disease. This study aimed to describe the cleft palate of these dogs for surgical research purposes and to determine whether congenital cleft palate influences maxillofacial growth. Seven newborn Old Spanish Pointer dogs of both sexes, comprising a cleft palate group (n = 4) and a normal palate group (n = 3), were fed using the same technique. Macroscopic photographs and plaster casts from the palate, lateral radiographs and computer tomograms of the skull were taken sequentially over 41 weeks, starting at week 5. The cleft morphology, the size and the tissue characteristics in these dogs resembled the human cleft better than current available animal models. During growth, the cleft width varies. Most of the transverse and longitudinal measures of the palate were statistically lower in the cleft palate group. The cleft palate group showed hypoplasia of the naso-maxillary complex. This model of congenital cleft palate seems suitable for surgical research purposes. A reduced maxillofacial pre- and post-natal development is associated to the congenital cleft palate in the Old Spanish Pointer dog. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  9. 3D computed tomographic evaluation of secondary alveolar bone grafts in cleft lip and palate patients

    International Nuclear Information System (INIS)

    Ohkubo, Fumio; Akai, Hidemi; Hosaka, Yoshiaki

    2001-01-01

    Alveolar bone grafting in patients with cleft lip and palate has becomes a routine part of most treatment regimes. This study was undertaken to estimate how much bone needs to be grafted into the cleft cavity and to evaluate the grafted bone using 3-DCT over a period from the early postoperative stage to after one year. Seventy-five patients divided into four groups according to the type of cleft were studied. All patients underwent secondary alveolar bone grafting using particulate cancellous bone from the anterior iliac crest. The bone graft areas were divided into two regions: the extra-cleft region and the intra-cleft region. The weight and the volume of the grafted bone were correlated and the average density was 1.5 g/ml regardless of the cleft type. The bone in the extra-cleft region could be seen in almost all slices of the CT scans, from the lower alveolar process to the piriform aperture. The extra-cleft graft ratio of unilateral and bilateral cleft lip and palate is higher than that of cleft lip and alveolus. The extra-cleft grafting is necessary to restore facial symmetry. The grafted bone was decreased in both height and volume following three months and adequate bone bridging was maintained for one year. We concluded that 3-DCT findings are one of the most valuable methods to evaluate postoperative conditions after alveolar bone grafting. (author)

  10. Isolated cleft of the ala nasi: A report of seven cases

    Directory of Open Access Journals (Sweden)

    J Rajesh Jinka

    2012-01-01

    Full Text Available Craniofacial clefts other than cleft lip & palate are reported to be 1.4 to 4.9 per 100,000 live births. Of these, clefts of nose are usually associated with other clefts. Isolated cleft of Ala is rare, 0.7% of all clefts reported by Monasterio. In an analysis of photographic records of 3,500 consecutive patients with craniofacial clefts including cleft lip & palate registered with us between 1985- 2012 which were accessed through our data base, 13 patients with nasal clefts were identified, seven out of which had Isolated cleft of the Ala. All were treated by a rotation flap of the Ala with good results with the longest follow up of 14Yrs. The authors have emphasised the rarity of the condition and presented a simple surgical procedure for correction. In the opinion of the authors this very simple procedure which can be performed by the junior surgeon gives a good long term result in the management of cleft Ala.

  11. Root development of permanent lateral incisor in cleft lip and palate children: A radiographic study

    Directory of Open Access Journals (Sweden)

    Amarlal Deepti

    2007-01-01

    Full Text Available Objective: The objective of this study was to compare the root development of lateral incisor on the cleft side with the root development of its contralateral tooth in cleft lip and palate children. Setting: Cleft lip and palate wing, Meenakshi Ammal Dental College and Hospital, Chennai, South India. Materials and Methods: A sample of 96 orthopantamograms of patients with unilateral or bilateral cleft lip and/or cleft palate was selected, regardless of sex and race. Main Outcome Measure: Orthopantamograms were analyzed for root development of lateral incisor on the cleft and noncleft side. Associated anomalies like hypodontia, supernumerary teeth, malformed lateral incisors and root development of canine, if present, were recorded. Findings and Conclusions: Root development of permanent lateral incisor was delayed on the cleft side compared to the noncleft side. There was a statistically significant relationship between levels of root development of lateral incisors on the cleft side within the different study groups ( P < 0.05. Incidence of hypodontia increased in proportion to cleft severity. Frequency of missing second premolars, supernumerary teeth and malformed lateral incisors increased in cleft lip and palate patients. Root development of canine showed a slight delay on the cleft side when compared to the canine on the noncleft side.

  12. 3D computed tomographic evaluation of secondary alveolar bone grafts in cleft lip and palate patients

    Energy Technology Data Exchange (ETDEWEB)

    Ohkubo, Fumio; Akai, Hidemi; Hosaka, Yoshiaki [Showa Univ., Tokyo (Japan). School of Medicine

    2001-04-01

    Alveolar bone grafting in patients with cleft lip and palate has becomes a routine part of most treatment regimes. This study was undertaken to estimate how much bone needs to be grafted into the cleft cavity and to evaluate the grafted bone using 3-DCT over a period from the early postoperative stage to after one year. Seventy-five patients divided into four groups according to the type of cleft were studied. All patients underwent secondary alveolar bone grafting using particulate cancellous bone from the anterior iliac crest. The bone graft areas were divided into two regions: the extra-cleft region and the intra-cleft region. The weight and the volume of the grafted bone were correlated and the average density was 1.5 g/ml regardless of the cleft type. The bone in the extra-cleft region could be seen in almost all slices of the CT scans, from the lower alveolar process to the piriform aperture. The extra-cleft graft ratio of unilateral and bilateral cleft lip and palate is higher than that of cleft lip and alveolus. The extra-cleft grafting is necessary to restore facial symmetry. The grafted bone was decreased in both height and volume following three months and adequate bone bridging was maintained for one year. We concluded that 3-DCT findings are one of the most valuable methods to evaluate postoperative conditions after alveolar bone grafting. (author)

  13. The characteristics and distribution of dental anomalies in patients with cleft.

    Science.gov (United States)

    Wu, Ting-Ting; Chen, Philip K T; Lo, Lun-Jou; Cheng, Min-Chi; Ko, Ellen Wen-Ching

    2011-01-01

    Dental anomalies associated with different severities of cleft lip and palate have been rarely reported. This retrospective study investigates the characteristics of dental anomalies associated with different types of cleft, and compares the dental anomaly traits based on sex and severity of cleft. Cleft patients born in 1995 with qualified diagnostic records from 7 to 11 years were included for evaluation. Records were retrieved from database of Chang Gung Craniofacial Center, including panoramic radiographs and intraoral photographs. In total, 196 patients with complete records were included in the evaluation. This study compares the dental anomalies associated with each type of cleft. The frequency of dental anomalies in the maxillary incisor area in the cleft palate (CP) group (20%) was significantly lower than that in other groups. The frequency of missing maxillary lateral incisors (MLIs) increased as the cleft severity increased. Supernumerary teeth and missing lower incisors exhibited the opposite trend. No sexual dimorphism appeared in terms of the frequencies of peg laterals and missing MLIs. The distribution patterns of missing MLIs and peg laterals in males, but not in females, were consistent for the three types of unilateral clefts. Regarding the characteristics of dental anomalies among the three unilateral clefts, missing MLIs, supernumerary teeth, and missing lower incisors were found to be related to cleft severity. The maxillary lateral incisor was the most affected tooth in the cleft area. The frequency of missing MLIs and peg laterals was not sexual dimorphic, but the distribution pattern was different between the sexes.

  14. 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.

  15. The Cleft Aesthetic Rating Scale for 18-Year-Old Unilateral Cleft Lip and Palate Patients: A Tool for Nasolabial Aesthetics Assessment.

    Science.gov (United States)

    Mulder, F J; Mosmuller, D G M; de Vet, H C W; Mouës, C M; Breugem, C C; van der Molen, A B Mink; Don Griot, J P W

    2018-01-01

    Objective To develop a reliable and easy-to-use method to assess the nasolabial appearance of 18-year-old patients with unilateral cleft lip and palate (CLP). Design Retrospective analysis of nasolabial aesthetics using a 5-point ordinal scale and newly developed photographic reference scale: the Cleft Aesthetic Rating Scale (CARS). Three cleft surgeons and 20 medical students scored the nasolabial appearance on standardized frontal photographs. Setting VU University Medical Center, Amsterdam. Patients Inclusion criteria: 18-year-old patients, unilateral cleft lip and palate, available photograph of the frontal view. history of facial trauma, congenital syndromes affecting facial appearance. Eighty photographs were available for scoring. Main Outcome Measures The interobserver and intraobserver reliability of the CARS for 18-year-old patients when used by cleft surgeons and medical students. Results The interobserver reliability for the nose and lip together was 0.64 for the cleft surgeons and 0.61 for the medical students. There was an intraobserver reliability of 0.75 and 0.78 from the surgeons and students, respectively, on the nose and lip together. No significant difference was found between the cleft surgeons and medical students in the way they scored the nose ( P = 0.22) and lip ( P = 0.72). Conclusions The Cleft Aesthetic Rating Scale for 18-year-old patients has a substantial overall estimated reliability when the average score is taken from three or more cleft surgeons or medical students assessing the nasolabial aesthetics of CLP patients.

  16. Novel 3-D Analysis for the Assessment of Cleft Dimensions on Digital Models of Infants With Unilateral Cleft Lip and Palate

    DEFF Research Database (Denmark)

    Botticelli, Susanna; Pedersen, Thomas Klit; Küseler, Annelise

    2018-01-01

    OBJECTIVE: To present a 3-D standardized analysis of cleft dimensions. MATERIALS: Thirty-one plaster casts of unilateral cleft lip and palate (UCLP) infants were laser scanned. Landmarks and coordinate system were defined. Linear distances and surfaces were measured, and the ratio between cleft...... and palatal area was calculated (3-D infant cleft severity ratio [3D ICSR]). The digitally measured areas were compared with silicone membranes, adapted to the plaster casts, and analyzed by optic microscopy. MAIN OUTCOME MEASURES: Repeatability, reproducibility, and validity. RESULTS: Bland-Altman plots...

  17. 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.

  18. Description of Mexican Cleft Surgeons' Experience With Foreign Surgical Volunteer Missions in Mexico.

    Science.gov (United States)

    Schoenbrunner, Anna R; Kelley, Kristen D; Buckstaff, Taylor; McIntyre, Joyce K; Sigler, Alicia; Gosman, Amanda A

    2018-05-01

    Mexican cleft surgeons provide multidisciplinary comprehensive cleft lip and palate care to children in Mexico. Many Mexican cleft surgeons have extensive experience with foreign, visiting surgeons. The purpose of this study was to characterize Mexican cleft surgeons' domestic and volunteer practice and to learn more about Mexican cleft surgeons' experience with visiting surgeons. A cross-sectional validated e-mail survey tool was sent to Mexican cleft surgeons through 2 Mexican plastic surgery societies and the Asociación Mexicana de Labio y Paladar Hendido y Anomalías Craneofaciales, the national cleft palate society that includes plastic and maxillofacial surgeons who specialize in cleft surgery. We utilized validated survey methodology, including neutral fact-based questions and repeated e-mails to survey nonresponders to maximize validity of statistical data; response rate was 30.6% (n = 81). Mexican cleft surgeons performed, on average, 37.7 primary palate repairs per year with an overall complication rate of 2.5%; 34.6% (n = 28) of respondents had direct experience with patients operated on by visiting surgeons; 53.6% of these respondents performed corrective surgery because of complications from visiting surgeons. Respondents rated 48% of the functional outcomes of visiting surgeons as "acceptable," whereas 43% rated aesthetic outcomes of visiting surgeons as "poor"; 73.3% of respondents were never paid for the corrective surgeries they performed. Thirty-three percent of Mexican cleft surgeons believe that there is a role for educational collaboration with visiting surgeons. Mexican cleft surgeons have a high volume of primary cleft palate repairs in their domestic practice with good outcomes. Visiting surgeons may play an important role in Mexican cleft care through educational collaborations that complement the strengths of Mexican cleft surgeons.

  19. GFA Taq I polymorphism and cleft lip with or without cleft palate (CL/P) risk

    Science.gov (United States)

    Dong, Lijia; Ma, Lian

    2015-01-01

    The transforming growth factor alpha (TGFA) Taq I polymorphism has been indicated to be correlated with cleft lip with or without cleft palate (CL/P) susceptibility, but study results are still debatable. Thus, a meta-analysis was conducted. We conducted a comprehensive search of Embase, Ovid, Web of Science, the Cochrane database, PubMed, the Chinese Biomedical Literature Database (CBM-disc, 1979-2014), the database of National Knowledge Infrastructure (CNKI, 1979-2014) and the full paper database of Chinese Science and Technology of Chongqing (VIP, 1989-2014) to identify suitable studies. There were 18 studies suitable for this meta-analysis, involving a total of 3135 cases and 3575 controls. Significantly increased CL/P risk was observed (OR = 1.49; 95% CI 1.17-1.89; P = 0.001). In subgroup analyses stratified by ethnicity, there was evidence in the Caucasian population for an association between this polymorphism and CL/P risk (OR = 1.52; 95% CI 1.14-2.02; P = 0.004). However, no significant association was found between this his polymorphism and CL/P risk in African and Hispanic populations. According to a specific CL/P type, increased clip lip and palate risk and clip palate risk were found (OR = 1.38; 95% CI 1.10-1.73; P = 0.005; OR = 1.29; 95% CI 1.01-1.66; P = 0.042). In conclusion, the present meta-analysis found that the TGFA Taq I polymorphism may be associated with CL/P susceptibility. PMID:26064247

  20. 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

  1. Novel Sonic Hedgehog Mutation in a Couple with Variable Expression of Holoprosencephaly

    Directory of Open Access Journals (Sweden)

    M. Aguinaga

    2011-01-01

    Full Text Available Holoprosencephaly (HPE is the most common developmental defect of the forebrain and midface in humans. sporadic and inherited mutations in the human sonic hedgehog (SHH gene cause 37% of familial HPE. A couple was referred to our unit with a family history of two spontaneous first trimester miscarriages and a daughter with HPE who presented early neonatal death. The father had a repaired median cleft lip, absence of central incisors, facial medial hypoplasia, and cleft palate. Intelligence and a brain CT scan were normal. Direct paternal sequencing analysis showed a novel nonsense mutation (W127X. Facial characteristics are considered as HPE microforms, and the pedigree suggested autosomal dominant inheritance with a variable expression of the phenotype. This study reinforces the importance of an exhaustive evaluation of couples with a history of miscarriages and neonatal deaths with structural defects.

  2. Trans-sinusoidal maxillary distraction in three cleft patients.

    NARCIS (Netherlands)

    Wenghoefer, M.H.; Martini, M.; Nadjmi, N.; Schutyser, F.A.C.; Jagtman, A.K.; Bergé, S.J.

    2006-01-01

    The trans-sinusoidal maxillary distractor (TS-MD) was used to achieve maxillary advancement in three patients with repaired cleft lip and palate. After preoperative computer-aided planning of the distraction vectors, each TS-MD was bent on a stereolithographic model of the maxilla of the patient.

  3. Helping the Child with a Cleft Palate in Your Classroom.

    Science.gov (United States)

    Moran, Michael J.; Pentz, Arthur L.

    1995-01-01

    Guidelines for teachers of a student with a cleft palate include understand the physical problem; know what kind of speech problem to expect; be alert to the possibility of language-based learning difficulties; watch for signs of hearing loss; be alert to socialization problems; help the student make up work; and avoid self-fulfilling prophecies.…

  4. Frequency of oronasal fistulae in complete cleft palate repair

    International Nuclear Information System (INIS)

    Aslam, M.

    2015-01-01

    To determine the frequency of oro-nasal fistula in patients undergoing complete cleft palate repair by two flappalatoplasty. Study Design: Case series. Place and Duration of Study: Department of Plastic Surgery, Services Hospital, Lahore, from January to December 2013. Methodology: Patients admitted to the study place for repair of cleft palate after informed consent obtained were included. Cleft palate was repaired by two-flap palatoplasty, using Bardach technique. Patients were discharged on the second postoperative day and followed-up at third week postoperatively. During follow-up visits, fistulae formation and their sites were recorded on pre-designed proforma. Results: Among the total 90 patients, 40 patients (44.4%) were male and 50 patients (55.6%) were female. The mean age was 6.4 +- 5.7 years ranging from 9 months to 20 years. At third week follow-up, 5 patients (5.6%) had fistulae formation. Four patients (80%) had anterior fistulae and one patient (20%) had posterior fistula. Conclusion: With two-flap palatoplasty Bardach procedure for repair of cleft palate, the complication of fistula formation was uncommon at 5.6%, provided the repair was tension free and multi-layered. (author)

  5. Reliable critical sized defect rodent model for cleft palate research.

    Science.gov (United States)

    Mostafa, Nesrine Z; Doschak, Michael R; Major, Paul W; Talwar, Reena

    2014-12-01

    Suitable animal models are necessary to test the efficacy of new bone grafting therapies in cleft palate surgery. Rodent models of cleft palate are available but have limitations. This study compared and modified mid-palate cleft (MPC) and alveolar cleft (AC) models to determine the most reliable and reproducible model for bone grafting studies. Published MPC model (9 × 5 × 3 mm(3)) lacked sufficient information for tested rats. Our initial studies utilizing AC model (7 × 4 × 3 mm(3)) in 8 and 16 weeks old Sprague Dawley (SD) rats revealed injury to adjacent structures. After comparing anteroposterior and transverse maxillary dimensions in 16 weeks old SD and Wistar rats, virtual planning was performed to modify MPC and AC defects dimensions, taking the adjacent structures into consideration. Modified MPC (7 × 2.5 × 1 mm(3)) and AC (5 × 2.5 × 1 mm(3)) defects were employed in 16 weeks old Wistar rats and healing was monitored by micro-computed tomography and histology. Maxillary dimensions in SD and Wistar rats were not significantly different. Preoperative virtual planning enhanced postoperative surgical outcomes. Bone healing occurred at defect margin leaving central bone void confirming the critical size nature of the modified MPC and AC defects. Presented modifications for MPC and AC models created clinically relevant and reproducible defects. Copyright © 2014 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  6. Phonological Patterns Observed in Young Children with Cleft Palate.

    Science.gov (United States)

    Broen, Patricia A.; And Others

    The study examined the speech production strategies used by 4 young children (30- to 32-months-old) with cleft palate and velopharyngeal inadequacy during the early stages of phonological learning. All the children had had primary palatal surgery and were producing primarily single word utterances with a few 2- and 3-word phrases. Analysis of each…

  7. Cleft Palate Repair Using a Double Opposing Z-Plasty.

    Science.gov (United States)

    Moores, Craig; Shah, Ajul; Steinbacher, Derek M

    2016-07-01

    Cleft palate is a common congenital defect with several described surgical repairs. The most successful treatment modality remains a controversy. The goals of repair focus on achievement of normal speech and optimizing velopharyngeal function while minimizing both fistula formation and facial growth restriction. In this video, the authors demonstrate use of the double opposing Z-plasty technique in the repair of a Veau II type cleft palate. The video demonstrates the marking, incisions, dissection, and repair of the cleft. It also examines the use of von Langenbeck-type relaxing incisions and demonstrates a specific approach to the repair of this particular cleft. The authors believe that the Furlow double opposing Z-plasty with the von Langenbeck relaxing incision can provide the best postoperative outcome by combining the benefits of each individual operation. The Z-plasty technique works to correct the aberrant muscle of the soft palate while increasing the length of the palate. The authors believe that this results in better velopharyngeal function.

  8. 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...

  9. Branchial cleft or cervical lymphoepithelial cysts: etiology and management.

    Science.gov (United States)

    Glosser, Jeffrey W; Pires, Carlos Alberto S; Feinberg, Stephen E

    2003-01-01

    The cervical lymphoepithelial or branchial cleft cyst is a developmental cyst that has a disputed pathogenesis. The objective of this article is to provide a brief review of the literature and to define diagnostic terms related to this anomaly, as well as to describe its etiology, clinical presentation and treatment. The cervical lymphoepithelial or branchial cleft cyst usually presents as a unilateral, soft-tissue fluctuant swelling that typically appears in the lateral aspect of the neck, anterior to the sternocleidomastoid muscle, and becomes clinically evident late in childhood or in early adulthood. Clinicians can diagnose the cyst with appropriate imaging to assess the extent of the lesion before definitive surgical treatment. The authors describe a patient who underwent excision of a well-encapsulated cystic structure that was diagnosed as a branchial cleft cyst. The cervical lymphoepithelial or branchial cleft cyst can be easily misdiagnosed as a parotid swelling or odontogenic infection. It is imperative that clinicians make an accurate diagnosis so that appropriate treatment (that is, surgical excision) can be performed. If the cysts are treated properly, recurrences are rare.

  10. Efficacy and Safety of Ethanol Ablation for Branchial Cleft Cysts.

    Science.gov (United States)

    Ha, E J; Baek, S M; Baek, J H; Shin, S Y; Han, M; Kim, C-H

    2017-12-01

    Branchial cleft cyst is a common congenital lesion of the neck. This study evaluated the efficacy and safety of ethanol ablation as an alternative treatment to surgery for branchial cleft cyst. Between September 2006 and October 2016, ethanol ablation was performed in 22 patients who refused an operation for a second branchial cleft cyst. After the exclusion of 2 patients who were lost to follow-up, the data of 20 patients were retrospectively evaluated. All index masses were confirmed as benign before treatment. Sonography-guided aspiration of the cystic fluid was followed by injection of absolute ethanol (99%) into the lesion. The injected volume of ethanol was 50%-80% of the volume of fluid aspirated. Therapeutic outcome, including the volume reduction ratio, therapeutic success rate (volume reduction ratio of >50% and/or no palpable mass), and complications, was evaluated. The mean index volume of the cysts was 26.4 ± 15.7 mL (range, 3.8-49.9 mL). After ablation, the mean volume of the cysts decreased to 1.2 ± 1.1 mL (range, 0.0-3.5 mL). The mean volume reduction ratio at last follow-up was 93.9% ± 7.9% (range, 75.5%-100.0%; P branchial cleft cysts who refuse, or are ineligible for, an operation. © 2017 by American Journal of Neuroradiology.

  11. [Diagnosis and surgical operation for fourth branchial cleft anomalies].

    Science.gov (United States)

    Zhu, Ting; Hua, Qingquan

    2011-11-01

    To explore diagnosis and surgical operation through analyzing clinical features of the fourth branchial cleft anomalies. Clinical materials of 10 patients with the fourth branchial cleft anomalies were retrospectively analyzed, and literatures were studied to explore the diagnosis, differential diagnosis and treatment methods of surgical operation; lesions of 10 patients were completely removed by surgical operation, and internal sinus was properly handled. All 10 cases were cured, no recurrence were observed during a follow-up of 1-3 years. 1 patient appeared low voice, and drinking cough, back to normality after 2 weeks; 1 patient appeared paralysis of left hypoglossal nerves, back to normality after 3 months. Recurrent deep neck abscess and chronic sinus infections of anterior area in the lower part of neck should be considered with the diagnosis of the fourth branchial cleft anomalies. Enhanced neck CT scan and barium sulfate meal examination aid to diagnosis, pathological examination can be confirmed. Complete surgical removal of lesions is an effective treatment of fourth branchial cleft anomalies, knowing of the courses of internal sinus and spread of infection, and use of principle of selective neck dissection is the key to ensure complete removal of lesions.

  12. Genetic studies in congenital anterior midline cervical cleft

    DEFF Research Database (Denmark)

    Jakobsen, L P; Pfeiffer, P; Andersen, M

    2012-01-01

    Congenital anterior midline cervical cleft (CAMCC) is a rare anomaly, with less than 100 cases reported. The cause of CAMCC is unknown, but genetic factors must be considered as part of the etiology. Three cases of CAMCC are presented. This is the first genetic study of isolated CAMCC. Conventional...

  13. Study of oral clefts: Indication of gene-environment interaction

    Energy Technology Data Exchange (ETDEWEB)

    Hwang, S.J.; Beaty, T.H.; Panny, S. [Johns Hopkins Univ., Baltimore, MD (United States)] [and others

    1994-09-01

    In this study of infants with isolated birth defects, 69 cleft palate-only (CPO) cases, 114 cleft lip with or without palate (CL/P), and 284 controls with non-cleft birth defects (all born in Maryland during 1984-1992) were examined to test for associations among genetic markers and different oral clefts. Modest associations were found between transforming growth factor {alpha} (TGF{alpha}) marker and CPO, as well as that between D17S579 (Mfd188) and CL/P in this study. The association between TGF{alpha} marker and CPO reflects a statistical interaction between mother`s smoking and child`s TGF{alpha} genotype. A significantly higher risk of CPO was found among those reporting maternal smoking during pregnancy and carrying less common TGF{alpha} TaqI allele (odds ratio=7.02 with 95% confidence interval 1.8-27.6). This gene-environment interaction was also found among those who reported no family history of any type of birth defect (odds ratio=5.60 with 95% confidence interval 1.4-22.9). Similar associations were seen for CL/P, but these were not statistically significant.

  14. Cleft lip and palate malformations: essential knowledge for the ...

    African Journals Online (AJOL)

    Cleft lip and palate malformations are a common group of congenital abnormalities, and are therefore frequently encountered by the general practitioner, who is often the primary coordinator in the management of these patients. This is especially true in a South African setting, where specialist treatment is not always readily ...

  15. Awareness, knowledge and attitude on cleft lip and palate among ...

    African Journals Online (AJOL)

    Background: Adequate knowledge and awareness of cleft lip and palate (CLP) deformity may help to counter the negative beliefs and attitudes toward the condition. The objective of this study was to assess the level of awareness, knowledge and attitude of women attending antenatal clinics about CLP. Materials and ...

  16. Classification of first branchial cleft anomalies: is it clinically relevant ...

    African Journals Online (AJOL)

    Background: There are three classification systems for first branchial cleft anomalies currently in use. The Arnot, Work and Olsen classifications describe these lesions on the basis of morphology, tissue of origin and clinical appearance. However, the clinical relevance of these classifications is debated, as they may not be ...

  17. Airway and Respiratory Complications in Children Undergoing Cleft ...

    African Journals Online (AJOL)

    2010-03-01

    Mar 1, 2010 ... Standard inhalational halothane induction or intravenous induction using thiopentone or propofol was employed. The trachea was intubated with a RAE tube (for cleft lip repair only) or armoured endotracheal tube (for palatal surgery) under deep inhalational anaesthesia or muscle relaxants. Standard intra-.

  18. [A modified Onizuka cheiloplasty for repairing the unilateral cleft lip].

    Science.gov (United States)

    Zhang, Bin; Wang, Chao; Liu, Qiang; Li, Zengjian; Xu, Xianyi

    2011-08-01

    To explore the surgical technique of a modified Onizuka cheiloplasty for repairing the unilateral cleft lip. 24 patients with unilateral cleft lip were repaired by modified Onizuka cheiloplasty. The rotation flap ended at the midpoint of nasal columella crease. A small triangle skin flap was formed above the vermilion border of the advancement flap. The small triangle flap was inserted to the medial side after the Cupid's bow was built. The skin of the flap C was denuded along the nasal columella crease and the muscle was sutured to the alar base for augmentation of nostril floor on the cleft side. The tip of the advancement flap was sutured at the midpoint of nasal columella crease and the skin of nasal floor was trimmed to hide the incision line around the nasal columella base. It was found that the Cupid's bow was rebuilt in a natural form and the configuration of the upper lip was reconstructed symmetrically. The long term follow up studies showed that the philtrum column was not disturbed by the small triangle flap and the nasal floor was rebuilt without obvious scars. The modified Onizuka cheiloplasty is an easy learning technique and efficient for repairing the unilateral cleft lip. This technique can satisfy the patients by reducing the length of scar as well as rebuilding a natural form of upper lip and nostril floor.

  19. Christ-Siemens-Touraine syndrome with cleft palate, absent nipples ...

    African Journals Online (AJOL)

    We report a 6 year old child, second in order of birth of non consanguineous Egyptian parents with typical characteristics of Christ-Siemens-Touraine syndrome. The patient had sparse light hair over the scalp, scanty eyebrows and eyelashes, a high arched cleft palate, decayed oligodontic teeth, hyperpigmentation all over ...

  20. 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 ...

  1. High patient satisfaction after secondary rhinoplasty in cleft lip patients

    NARCIS (Netherlands)

    Hens, Greet; Picavet, Valerie A.; Poorten, Vincent Vander; Schoenaers, Joseph; Jorissen, Mark; Hellings, Peter W.

    2011-01-01

    We surveyed the subjective outcome of secondary rhinoplasty in cleft lip patients. Questionnaires were sent to 38 patients who had undergone a secondary rhinoplasty. A total of 30 questionnaires were returned and analyzed. Patients were asked to score their preoperative and postoperative nasal

  2. Cone-Beam Computed Tomography Assessment of Lower Facial Asymmetry in Unilateral Cleft Lip and Palate and Non-Cleft Patients with Class III Skeletal Relationship.

    Science.gov (United States)

    Lin, Yifan; Chen, Gui; Fu, Zhen; Ma, Lian; Li, Weiran

    2015-01-01

    To evaluate, using cone-beam computed tomography (CBCT), both the condylar-fossa relationships and the mandibular and condylar asymmetries between unilateral cleft lip and palate (UCLP) patients and non-cleft patients with class III skeletal relationship, and to investigate the factors of asymmetry contributing to chin deviation. The UCLP and non-cleft groups consisted of 30 and 40 subjects, respectively, in mixed dentition with class III skeletal relationships. Condylar-fossa relationships and the dimensional and positional asymmetries of the condyles and mandibles were examined using CBCT. Intra-group differences were compared between two sides in both groups using a paired t-test. Furthermore, correlations between each measurement and chin deviation were assessed. It was observed that 90% of UCLP and 67.5% of non-cleft subjects had both condyles centered, and no significant asymmetry was found. The axial angle and the condylar center distances to the midsagittal plane were significantly greater on the cleft side than on the non-cleft side (P=0.001 and P=0.028, respectively) and were positively correlated with chin deviation in the UCLP group. Except for a larger gonial angle on the cleft side, the two groups presented with consistent asymmetries showing shorter mandibular bodies and total mandibular lengths on the cleft (deviated) side. The average chin deviation was 1.63 mm to the cleft side, and the average absolute chin deviation was significantly greater in the UCLP group than in the non-cleft group (P=0.037). Compared with non-cleft subjects with similar class III skeletal relationships, the subjects with UCLP showed more severe lower facial asymmetry. The subjects with UCLP presented with more asymmetrical positions and rotations of the condyles on axial slices, which were positively correlated with chin deviation.

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

    Science.gov (United States)

    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.

  4. A novel technique for presurgical nasoalveolar molding using computer-aided reverse engineering and rapid prototyping.

    Science.gov (United States)

    Yu, Quan; Gong, Xin; Wang, Guo-Min; Yu, Zhe-Yuan; Qian, Yu-Fen; Shen, Gang

    2011-01-01

    To establish a new method of presurgical nasoalveolar molding (NAM) using computer-aided reverse engineering and rapid prototyping technique in infants with unilateral cleft lip and palate (UCLP). Five infants (2 males and 3 females with mean age of 1.2 w) with complete UCLP were recruited. All patients were subjected to NAM before the cleft lip repair. The upper denture casts were recorded using a three-dimensional laser scanner within 2 weeks after birth in UCLP infants. A digital model was constructed and analyzed to simulate the NAM procedure with reverse engineering software. The digital geometrical data were exported to print the solid model with rapid prototyping system. The whole set of appliances was fabricated based on these solid models. Laser scanning and digital model construction simplified the NAM procedure and estimated the treatment objective. The appliances were fabricated based on the rapid prototyping technique, and for each patient, the complete set of appliances could be obtained at one time. By the end of presurgical NAM treatment, the cleft was narrowed, and the malformation of nasoalveolar segments was aligned normally. We have developed a novel technique of presurgical NAM based on a computer-aided design. The accurate digital denture model of UCLP infants could be obtained with laser scanning. The treatment design and appliance fabrication could be simplified with a computer-aided reverse engineering and rapid prototyping technique.

  5. [Inconformity between soft tissue defect and bony defect in incomplete cleft palate].

    Science.gov (United States)

    Zhou, Xia; Ma, Lian

    2014-12-01

    To evaluate the inconformity between soft tissue defect and bony defect by observing the cleft extent of palate with complete secondary palate bony cleft in incomplete cleft palate patient. The patients with incomplete cleft palate treated in Hospital of Stomatology Peking University from July 2012 to June 2013 were reviewed, of which 75 cases with complete secondary palate bony cleft were selected in this study. The CT scan and intraoral photograph were taken before operation. The patients were classified as four types according to the extent of soft tissue defect. Type 1: soft tissue defect reached incisive foremen region, Type 2 was hard and soft cleft palate, Type 3 soft cleft palate and Type 4 submucous cleft palate. Type 1 was defined as conformity group (CG). The other three types were defined as inconformity group (ICG) and divided into three subgroups (ICG-I), (ICG-II) and (ICG-III). Fifty-seven patients were in ICG group, and the rate of inconformity was 76% (57/75). The percentage of ICG-I, ICG-II and ICG-III was 47% (27/57), 23% (13/57) and 30% (17/57), respevtively. There are different types of soft tissue deformity with complete secondary palate bony cleft. The inconformity between soft tissue and hard tissue defect exits in 3/4 of isolated cleft palate patients.

  6. Receptive and expressive language performance in children with and without Cleft Lip and Palate.

    Science.gov (United States)

    Lamônica, Dionísia Aparecida Cusin; Silva-Mori, Mariana Jales Felix da; Ribeiro, Camila da Costa; Maximino, Luciana Paula

    2016-01-01

    To compare the performance in the abilities of receptive and expressive language of children with cleft lip and palate with that of children without cleft lip and palate with typical 12 to 36-month chronological development. The sample consisted of 60 children aged 12 and 36 months: 30 with cleft lip and palate diagnosis and 30 without cleft lip and palate diagnosis with typical development. The groups were paired according to gender, age (in months), and socioeconomic level. The procedures consisted of analysis of medical records, anamnesis with family members, and valuation of the Early Language Milestone Scale (ELMS). The chart analysis showed 63.34% of the children with unilateral cleft lip and palate, 16.66% with bilateral incisive transforamen cleft, and 20% with post-foramen cleft. Children with cleft lip and palate underwent surgeries (lip repair and/or palatoplasty) at the recommended ages and participated in early intervention programs; 40% presented recurrent otitis history, and 50% attended schools. Statistical analysis included the use of the Mann Whitney test with significance level of p cleft lip and palate showed statistically significant low performance in receptive and expressive language compared with children without cleft lip and palate.

  7. Dental anomalies associated with cleft lip and palate in Northern Finland.

    Science.gov (United States)

    Lehtonen, V; Anttonen, V; Ylikontiola, L P; Koskinen, S; Pesonen, P; Sándor, G K

    2015-12-01

    Despite the reported occurrence of dental anomalies of cleft lip and palate, little is known about their prevalence in children from Northern Finland with cleft lip and palate. The aim was to investigate the prevalence of dental anomalies among patients with different types of clefts in Northern Finland. Design and Statistics: patient records of 139 subjects aged three years and older (with clefts treated in Oulu University Hospital, Finland during the period 1996-2010 (total n. 183) were analysed for dental anomalies including the number of teeth, morphological and developmental anomalies and their association with the cleft type. The analyses were carried out using Chi-square test and Fisher's exact test. Differences between the groups were considered statistically significant at p values dental anomaly was detected in 47% of the study population. Almost one in three (26.6%) subjects had at least one anomaly and 17.9% had two or three anomalies. The most common type of anomaly in permanent teeth were missing teeth followed by supernumerary teeth. Supernumerary teeth were significantly more apparent when the lip was involved in the cleft compared with palatal clefts. Missing teeth were less prevalent among those 5 years or younger. The prevalence of different anomalies was significantly associated with the cleft type in both age groups. Dental anomalies are more prevalent among cleft children than in the general population in Finland. The most prevalent anomalies associated with cleft were missing and supernumerary teeth.

  8. Prevalence of dental anomalies of number in different subphenotypes of isolated cleft palate

    Directory of Open Access Journals (Sweden)

    João Paulo Schwartz

    2014-01-01

    Full Text Available OBJECTIVE: This study aimed at carrying out a radiographic analysis on the prevalence of dental anomalies of number (agenesis and supernumerary teeth in permanent dentition, in different subphenotypes of isolated cleft palate pre-adolescent patients. METHODS: Panoramic radiographs of 300 patients aged between 9 and 12 years, with cleft palate and enrolled in a single treatment center, were retrospectively analyzed. The sample was divided into two groups according to the extension/severity of the cleft palate: complete and incomplete . The chi-square test was used for intergroup comparison regarding the prevalence of the investigated dental anomalies (P < 0.05. RESULTS: Agenesis was found in 34.14% of patients with complete cleft palate and in 30.27% of patients with incomplete cleft palate. Supernumerary teeth were found in 2.43% of patients with complete cleft palate and in 0.91% of patients with incomplete cleft palate. No statistically significant difference was found between groups with regard to the prevalence of agenesis and supernumerary teeth. There was no difference in cleft prevalence between genders within each study group. CONCLUSION: The prevalence of dental anomalies of number in pre-adolescents with cleft palate was higher than that reported for the general population. The severity of cleft palate did not seem to be associated with the prevalence of dental anomalies of number.

  9. RISK FACTORS AND CLINICAL SIGNIFICANCE OF PRECHOROIDAL CLEFT IN NEOVASCULAR AGE-RELATED MACULAR DEGENERATION.

    Science.gov (United States)

    Kim, Jong Min; Kang, Se Woong; Son, Dae Yong; Bae, Kunho

    2017-11-01

    To investigate the risk factors associated with prechoroidal cleft occurrence after treatment for neovascular age-related macular degeneration (nAMD) and to elucidate its clinical significance. Two hundred thirty-four subjects who were treated for neovascular age-related macular degeneration were assessed to identify prechoroidal cleft on optical coherence tomography. Clinical variables were compared between patients manifesting a cleft (cleft group) and patients who did not (control group). Prechoroidal cleft was detected in 29 of 234 patients (8.1%). Although the baseline visual acuity was not different between the 2 groups, logMAR visual acuity at final visit was 0.89 ± 0.74 (with approximate Snellen equivalent of 20/160) in the cleft group and 0.65 ± 0.69 (with approximate Snellen equivalent of 20/100) in controls (P age-related macular degeneration (P age-related macular degeneration, and a submacular hemorrhage treated by pneumatic displacement were the independent risk factors for development of prechoroidal cleft. Eyes with a cleft, especially clefts that develop early, generally had worse prognoses than eyes without clefts.

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

    Directory of Open Access Journals (Sweden)

    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.

  11. Otolaryngology Service Usage in Children With Cleft Palate.

    Science.gov (United States)

    Whittemore, Kenneth R; Dargie, Jenna M; Dornan, Briana K; Boudreau, Brian

    2018-05-01

    To determine the usage of otolaryngology services by children with cleft palate at a pediatric tertiary care facility. Retrospective case series. Specialty clinic at a pediatric tertiary care hospital. Children born between January 1, 1999, and December 31, 2002, with the diagnosis of cleft palate or cleft lip and palate. A total of 41 female and 48 male patients were included. Total number of otolaryngology clinic visits and total number of otolaryngologic surgeries (tympanostomy tube placements and other otologic or upper airway procedures). In the first 5 years of life, these children utilized an average of 8.2 otolaryngology clinic visits (SD = 5.0; range: 1-22) and underwent 3.3 tympanostomy tube surgeries (SD = 2.0; range: 0-10). Seventy-three had their first tube placed at the time of palate repair, and 4 at the time of lip repair. Fifty-one (57.3%) required other otologic or upper airway procedures, including tonsillectomy and/or adenoidectomy (27 children), removal of tympanostomy tubes (24 children), tympanomastoidectomy (3 children), and tympanoplasty (14 children). Of the children who underwent other procedures, they underwent a mean of 1.67 (SD = 0.84; range: 1-4) surgeries. Children with cleft palate are at increased risk for eustachian tube dysfunction, frequently utilize otolaryngology care, and typically receive multiple sets of tympanostomy tubes. This study found that children with cleft palate receive on average of approximately 3 sets of tympanostomy tubes, and the majority required another otologic or upper airway surgery.

  12. Bite force evaluation in subjects with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Carla Renata Sipert

    2009-04-01

    Full Text Available The purpose of this study was to evaluate the masticatory function of subjects with cleft lip and palate by analyzing the bite force developed by these individuals. Bite force was evaluated in a group of 27 individuals with repaired unilateral cleft lip and palate (14 males and 13 females - aged 18-26 years and compared to the data achieved from a group of 20 noncleft subjects (10 males and 10 females - aged 18-26 years. Measurement was achieved on three positions within the dental arch (incisors, right molars and left molars, three times at each position considering the highest value for each one. Statistical analysis was performed by ANOVA and Mann-Whitney test ( α = 5%. There was a significant deficit in bite force in male individuals with cleft lip and palate compared to the male control group (p=0.02, p=0.004, p=0.003 for incisors, right and left molars, respectively. For the female group, the difference was not statistically significant (p=0.79, p=0.06, p=0.47. In the group of individuals with clefts, 92.6% were under orthodontic treatment, which could be a reason for the present findings, since it can decrease the bite force more remarkably in males than in females. In conclusion, the bite force is significantly reduced in men when comparing the cleft group to the noncleft group. In females, this reduction was not significant in the same way. However, the main reason for this reduction and for the different behavior between genders should be further investigated.

  13. Management of cleft lip and palate in adults

    Directory of Open Access Journals (Sweden)

    Murthy Jyotsna

    2009-10-01

    Full Text Available Introduction: With advancement of medical services in developed countries and awareness among the patients, it is rare to find an adult with an unoperated cleft lip and palate. However, the scenario is totally different in developing countries. Working as a part of a team in developing country, where co-coordinated team work is primitive, resources to provide treatment are very thin, public awareness of availability of treatment for this anomaly is minimal, the age of patients reaching for primary treatment varies from few days to late forties. Though the aim and aspiration is to provide holistic multidisciplinary care, the priority is getting treatment for all cleft patients. In such situation, the management of cleft lip and palate demands changes of approach, techniques and philosophy. Aims and Objectives: The deformed anatomy especially the facial bones and dentition is described. Due to well established deformities, the approach for management is individualized. The procedures and modification of procedures has been described. Results and Outcome: The outcome of the primary repair is adults certainly have less than satisfactory outcome for obvious reasons. The expected outcome and expectation of patients and families following primary surgeries in cleft lip and palate has been discussed. Though all adult patients got some improvement in speech after palate repair, achieving normal speech was difficult. The naso-labial appearance was not perfect, but well accepted by the patients and families. There are many psychosocial problems in these patients, the objective evaluation could not be done due to too many variables. However, primary repair of cleft lip and palate is justified and beneficial for the patients.

  14. Cervical vertebral maturation of children with orofacial clefts.

    Science.gov (United States)

    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.

  15. 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...

  16. An evaluation of factors influencing feeding in babies with a cleft palate with and without a cleft lip.

    Science.gov (United States)

    Martin, Vanessa; Greatrex-White, Sheila

    2014-03-01

    The objective of this article was to determine the impact of different bottles and teats for feeding babies with a cleft palate (with and without a cleft lip) on weight velocity, feeding behaviour, and maternal self-esteem. A mixed methods study incorporating the use of diaries to record feeding patterns of babies and levels of professional support received was used. Growth was assessed by converting weights into standard deviation scores and using the differences to express weight velocity over a six-week period. Visual analogue scales were used to assess mothers' perceptions of their children and themselves. The Edinburgh Postnatal Depression Score (EPDS) was used to identify maternal depression. The study demonstrated that the most significant effect on weight was determined by cleft type. Babies with isolated clefts of the hard and soft palate experienced greater feeding problems and suffered the biggest weight losses. This remained significant independently of the type of bottle/teat used. Poor weight gain was also associated with a mother's low perception of herself and her child, and her tendency towards depression. The study highlights the importance of the early assessment of babies' feeding skills and regular follow-up and support from trained and experienced nurse specialists.

  17. The Effect of Cleft Palate Repair on Contractile Properties of Single Permeabilized Muscle Fibers From Congenitally Cleft Goats Palates

    Science.gov (United States)

    A cleft palate goat model was used to study the contractile properties of the levator veli palatini (LVP) muscle which is responsible for the movement of the soft palate. In 15-25% of patients that undergo palatoplasty, residual velopharyngeal insufficiency (VPI) remains a problem and often require...

  18. A Comparative Study of Oral Microbiota in Infants with Complete Cleft Lip and Palate or Cleft Soft Palate.

    Science.gov (United States)

    Machorowska-Pieniążek, Agnieszka; Mertas, Anna; Skucha-Nowak, Małgorzata; Tanasiewicz, Marta; Morawiec, Tadeusz

    2017-01-01

    Few reports have been published on the early microbiota in infants with various types of cleft palate. We assessed the formation of the oral microbiota in infants with complete cleft lip and palate (CLP n = 30) or cleft soft palate (CSP n = 25) in the neonatal period (T1 time) and again in the gum pad stage (T2 time). Culture swabs from the tongue, palate, and/or cleft margin at T1 and T2 were taken. We analysed the prevalence of the given bacterial species (the percentage) and the proportions in which the palate and tongue were colonised by each microorganism. At T1, Streptococcus mitis (S. mitis) were the most frequently detected in subjects with CLP or CSP (63% and 60%, resp.). A significantly higher frequency of methicillin-sensitive Staphylococcus aureus ( S. aureus MSSA) was observed in CLP compared to the CSP group. At T2, significantly higher percentages of S. mitis , S. aureus MSSA, Staphylococcus epidermidis , and members of the Enterobacteriaceae family were noted in CLP infants compared to the CSP. S. mitis and Streptococcus sanguinis appeared with the greatest frequency on the tongue, whereas Streptococcus salivarius was predominant on the palate. The development of the microbiota in CLP subjects was characterised by a significant increase in the prevalence of pathogenic bacteria.

  19. [Cleft lip, alveolar and palate sequelae. Proposal of new alveolar score by the Alveolar Cleft Score (ACS) classification].

    Science.gov (United States)

    Molé, C; Simon, E

    2015-06-01

    The management of cleft lip, alveolar and palate sequelae remains problematic today. To optimize it, we tried to establish a new clinical index for diagnostic and prognostic purposes. Seven tissue indicators, that we consider to be important in the management of alveolar sequelae, are listed by assigning them individual scores. The final score, obtained by adding together the individual scores, can take a low, high or maximum value. We propose a new classification (ACS: Alveolar Cleft Score) that guides the therapeutic team to a prognosis approach, in terms of the recommended surgical and prosthetic reconstruction, the type of medical care required, and the preventive and supportive therapy to establish. Current studies are often only based on a standard radiological evaluation of the alveolar bone height at the cleft site. However, the gingival, the osseous and the cellular areas bordering the alveolar cleft sequelae induce many clinical parameters, which should be reflected in the morphological diagnosis, to better direct the surgical indications and the future prosthetic requirements, and to best maintain successful long term aesthetic and functional results. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

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

    Science.gov (United States)

    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