Science.gov

Sample records for active centre cleft

  1. A simple assessment method for auditing multi-centre unilateral cleft lip repairs.

    PubMed

    Kim, J B; Strike, P; Cadier, M C

    2011-02-01

    The aim of a cleft lip repair is to achieve a functional and aesthetically acceptable upper lip and nose appearance. However, the methods of assessing severity and outcome are still very subjective. Fortunately, it is recognised that human judgement can act as a very reliable tool in assessing facial attractiveness. Therefore, using a simple subjective assessment method, a multi-centre comparison study was performed. Following the Clinical Standards Advisory Group review (1998) and subsequent reconfiguration of the cleft services in the UK a tri-centre comparative audit, involving three out of the nine designated UK cleft centres, was set up. Photographs of 37 patients (consecutive where possible), with complete unilateral cleft lip defects from six regional cleft units (seven surgeons), taken preoperatively and then taken 5 years postoperatively were examined by 10 medical and 10 laypersons to rate the severity and perceived difficulty of repair preoperatively and aesthetic outcome postoperatively. This was repeated after 2 weeks. A five-point scale was used for the assessment. Weighted kappa scores were used to assess agreements within and between rater reliability. Results showed high levels of intra- and inter-rater reproducibility in both groups of raters. This technique was used as a ranking tool to assess the aesthetic outcomes of surgical repair and thereby rank surgeons within our supra-regional audit. This technique can be employed to aid education, stimulate research and also coordinate national inter-centre comparisons following cleft lip repairs.

  2. Nasoalveolar Molding in Cleft Care—Experience in 40 Patients from a Single Centre in Germany

    PubMed Central

    Rau, Andrea; Ritschl, Lucas M.; Mücke, Thomas; Wolff, Klaus-Dietrich; Loeffelbein, Denys J.

    2015-01-01

    Nasoalveolar molding (NAM) has gained wide acceptance and evidence in cleft therapy. However, standardized treatment protocols and experiences recorded from European centres are lacking. The results of 40 infants with cleft lip and palate treated with presurgical NAM according to the Grayson technique were analyzed. Standardized parameters of cleft width and nasal symmetry were measured in pre- and posttreatment plaster casts and in digitalized 3-dimensional STL models. Statistical analyses were performed by using Student´s t-test in a per-protocol manner. 27 out of 40 infants completed NAM and were analyzed. In 13 patients NAM was either temporarily interrupted or terminated prematurely due to skin irritations or lack of parental support. These cases were excluded from statistical analysis, resulting in a drop-out rate of 32.5%. Intersegmental alveolar distance (ISAD), intersegmental lip distance (ISLD), nostril height (NH), nostril width (NW) and columella deviation angle (CDA) were significantly changed in unilateral cleft lip and palate (UCLP) (n = 8). In unilateral cleft lip (UCL) (n = 9), only ISLD, NH and CDA were significantly changed. ISAD of the right and left side, ISLD of the right and left side, premaxilla deviation angle, nostril height and columella length were changed significantly in bilateral cleft lip and palate (BCLP) cases (n = 10). NAM is a suitable presurgical treatment modality. A positive effect has been seen in UCLP and BCLP infants, as compared with their birth status. PMID:25734535

  3. An extraorally activated expansion appliance for cleft palate infants.

    PubMed

    Latham, R A; Kusy, R P; Georgiade, N G

    1976-07-01

    A new lever-action expansion appliance is described which is designed specifically for use in infants with cleft lip and palate. An extraoral control knob allows for easy activation, while the important anterior cleft areas are left clear for premaxillary repositioning and clinical assessment. Activation is registered by a positive clicking sound. Rapid expansion is made possible by the design of the appliance which is retained by stainless steel pins. PMID:780004

  4. New trends in the complex treatment in the Cleft Centre in Bratislava.

    PubMed

    Kokavec, R; Hedera, J; Fedeles, J; Janovic, J; Kratka, E; Klimova, I

    2001-01-01

    The last decade of the second millennium has brought some major changes into the concept of comprehensive treatment of the cleft lip and palate patients commonly accepted by the cleft center in Bratislava. Important events occurred, which surely had and in future they probably still would have an important impact on the comprehensive medical care of children with cleft lip and palate. There is beyond any doubt that an ongoing application of new trends in such fields as plastic surgery, anesthesiology, maxillofacial surgery, orthodontics, phonetics, speech therapy, paediatrics, human genetics or teratology will contribute to the progress and improvement of functional and aesthetic results and to better social adaptation of the cleft lip and palate patients. The study focuses on the following issues: cleft incidence, timing of the primary surgical repair, as well as the need of secondary operations (closures of communications, bone grafts, pharyngeal flaps, corrections of the lip and nose) and the achieved standard of speech quality and articulation, as well as on the early and late otological states and phonation. (Tab. 7, Fig. 3, Ref. 8.)

  5. CLEFT PALATE IN HIV-EXPOSED NEWBORNS OF MOTHERS ON HIGHLY ACTIVE ANTIRETROVIRAL THERAPY

    PubMed Central

    James, Ayotunde; Oluwatosin, Babatunde; Njideka, Georgina; Babafemi; Benjamin, Onyekwere George; Olufemi, David; Leo, Robert; Folorunso, Isaac; Phylis; Olusina, Olusegun

    2014-01-01

    Aims Cleft lip/palate, though rare, is the commonest head and neck congenital malformation. Both genetic and environmental factors have been implicated in the aetiopathogenesis but the role of in-utero exposure to human immunodeficiency virus (HIV) and highly active antiretroviral therapy (HAART) is still being investigated. This short communication reports the occurrence of cleft palate in three newborns exposed in-utero to HIV and HAART. Material and methods This is a case series of HIV-exposed newborns observed to have cleft palate among a larger cohort of HIV-exposed and unexposed newborns in a study evaluating the effect of HIV infection and HAART on newborn hearing. The Risk Ratio (RR) was calculated to detect a potential association between in-utero exposure to Efavirenz containing ART and cleft palate. Results Three HIV-exposed newborns with cleft palate were identified during hearing screening performed on 126 HIV-exposed and 121 HIV unexposed newborns. Two had exposure to tenofovir+lamivudine+efavirenz (TDF+3TC+EFV) while the third had exposure to zidovudine+lamivudine+nevirapine (ZDV+3TC+NVP) during the first trimester. There was no statistically significant association between presence of cleft palate and exposure to an EFV containing HAART regimen (p=0.07, RR=10.95 [0.94-126.84]). Conclusions This communication highlights the possible aetiologic role of HAART in cleft palate, the need for further prospective follow-up studies and establishment of antiretroviral pregnancy, birth and neonatal registries. PMID:25653715

  6. Cleft Lip and Cleft Palate

    MedlinePlus

    ... Age Support Resources Books for Kids and Adults Cleft Lip/Palate & Craniofacial Specialists in Your Area FAQs for ... Conference: For Patients and Families Glossary of Terms Cleft lip and cleft palate comprise the most common birth ...

  7. Cleft Lip and Palate

    MedlinePlus

    ... Got Homework? Here's Help White House Lunch Recipes Cleft Lip and Cleft Palate KidsHealth > For Kids > Cleft Lip ... to the back of your mouth. What's a Cleft Lip or Cleft Palate? The word cleft means a ...

  8. Cleft Lip and Cleft Palate

    MedlinePlus

    ... refers to a cleft in the lip only accounting for 20 percent of all clefts. What causes ... permission. Oral Cavity Get Involved Professional Development Practice Management ENT Careers Marketplace Privacy Policy Terms of Use ...

  9. National survey of the injury prevention activities of children's centres

    PubMed Central

    Watson, Michael C; Mulvaney, Caroline A; Kendrick, Denise; Stewart, Jane; Coupland, Carol; Hayes, Mike; Wynn, Persephone

    2014-01-01

    Children's centres were established across England to provide a range of services including early education, social care and health to pre-school children and their families. We surveyed children's centres to ascertain the activities they were undertaking to prevent unintentional injuries in the under fives. A postal questionnaire was sent to a sample of children's centre managers (n = 694). It included questions on current activities, knowledge and attitudes to injury prevention, health priorities and partnership working. Responses were received from 384 (56%) children's centres. Overall, 58% considered unintentional injury prevention to be one of the three main child health priorities for their centre. Over half the respondents (59%) did not know if there was an injury prevention group in their area, and 21% did not know if there was a home safety equipment scheme. Knowledge of how child injury deaths occur in the home was poor. Only 11% knew the major cause of injury deaths in children under five. Lack of both staff time and funding were seen as important barriers by children's centre staff to undertake injury prevention activities. Nearly all stated that training (97%) and assistance with planning injury prevention (94%) would be helpful to their centres. Children's centres need further support if they are to effectively tackle this important public health area. PMID:23837887

  10. Strong ambipolar-driven ion upflow within the cleft ion fountain during low geomagnetic activity

    NASA Astrophysics Data System (ADS)

    Shen, Yangyang; Knudsen, David J.; Burchill, Johnathan K.; Howarth, Andrew; Yau, Andrew; Redmon, Robert J.; Miles, David M.; Varney, Roger H.; Nicolls, Michael J.

    2016-07-01

    We investigate low-energy (<10 eV) ion upflows (mainly O+) within the cleft ion fountain (CIF) using conjunctions of the Enhanced Polar Outflow Probe (e-POP) satellite, the DMSP F16 satellite, the SuperDARN radar, and the Resolute Bay Incoherent Scatter Radar North (RISR-N). The SEI instrument on board e-POP enables us to derive ion upflow velocities from the 2-D images of ion distribution functions with a frame rate of 100 images per second, and with a velocity resolution of the order of 25 m/s. We identify three cleft ion fountain events with very intense (>1.6 km/s) ion upflow velocities near 1000 km altitude during quiet geomagnetic activity (Kp < 3). Such large ion upflow velocities have been reported previously at or below 1000 km, but only during active periods. Analysis of the core ion distribution images allows us to demonstrate that the ion temperature within the CIF does not rise by more than 0.3 eV relative to background values, which is consistent with RISR-N observations in the F region. The presence of soft electron precipitation seen by DMSP and lack of significant ion heating indicate that the ion upflows we observe near 1000 km altitude are primarily driven by ambipolar electric fields. DC field-aligned currents (FACs) and convection velocity gradients accompany these events. The strongest ion upflows are associated with downward current regions, which is consistent with some (although not all) previously published results. The moderate correlation coefficient (0.51) between upflow velocities and currents implies that FACs serve as indirect energy inputs to the ion upflow process.

  11. Submucous Clefts

    MedlinePlus

    ... properly and the individual is at risk for speech problems, middle ear disease, and swallowing difficulties. However, ... for a submucous cleft palate is abnormal nasal speech. Other symptoms may include persistent middle ear disease ...

  12. Cleft Lip and Cleft Palate

    MedlinePlus

    ... virus and pregnancy Microcephaly Medicine safety and pregnancy Birth defects prevention Learn how to help reduce your risk ... of all races about the same. Can other birth defects happen along with oral clefts? Yes. There are ...

  13. The Teachers' Activity Centres of Malaysia.

    ERIC Educational Resources Information Center

    Singh, Diljit

    This paper describes the development of the Teachers' Activity Centers (TACs) in Malaysia. The TACs evolved from Local Resource Centers and District Resource Centers of the 1970s and 1980s. The 350 TACs in the country were initially supplied with basic tools for the production of teaching-learning resources. With administrative reorganization, the…

  14. [Team management of orofacial clefts].

    PubMed

    Kuijpers-Jagtman, A M; Borstlap-Engels, V M; Spauwen, P H; Borstlap, W A

    2000-11-01

    In the Netherlands 15 centres provide multidisciplinary care for cleft lip and palate patients. Usually the following disciplines participate in such teams: paediatrics, plastic and reconstructive surgery, orthodontics, genetics, social work or nursing, ENT, speech therapy, maxillofacial surgery, prosthetic dentistry, psychology and oral hygiene. An overview is given of the treatment protocol from birth until 20 years of age for a child with a complete UCLP or BCLP. It is concluded that properly designed prospective clinical trials are rare, resulting in a lack of evidence based care in the field of cleft lip and palate. Furthermore it should be investigated whether it is preferable to centralise the cleft care in less centres than the present 15 ones.

  15. Physical Activity Promotion in Call Centres: Employers' Perspectives

    ERIC Educational Resources Information Center

    Renton, Sheila J.; Lightfoot, Nancy E.; Maar, Marion A.

    2011-01-01

    This study followed a predominantly qualitative approach to explore the perspectives of employers in Sudbury, Ontario, Canada, call centres (CCs) regarding physical activity (PA) promotion in workplaces, by identifying current practices and employers' motivation to promote PA, as well as perceived facilitators and barriers. In-depth interviews…

  16. Laryngotracheoesophageal clefts.

    PubMed

    Strychowsky, Julie E; Rahbar, Reza

    2016-06-01

    Laryngotracheoesophageal clefts are rare congenital anomalies of the aerodigestive tract. Patients may present with airway and/or swallowing impairments. An approach to evaluation and management is presented. Important pearls for conservative and surgical management are discussed. Open versus endoscopic surgical techniques are reviewed. PMID:27301597

  17. Cleft Lip and Palate

    MedlinePlus

    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 pregnancy. ... baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the ...

  18. Cleft lip and palate

    MedlinePlus

    Cleft palate; Craniofacial defect ... There are many causes of cleft lip and palate. Problems with genes passed down from 1 or ... all cause these birth defects. Cleft lip and palate may occur along with other syndromes or birth ...

  19. Cleft palate - resources

    MedlinePlus

    Resources - cleft palate ... The following organizations are good resources for information on cleft palate : Cleft Palate Foundation -- www.cleftline.org March of Dimes -- www.marchofdimes.com/professionals/14332_1210.asp ...

  20. Mutational Analysis of Escherichia coli MoeA: Two Functional Activities Map to the Active Site Cleft

    SciTech Connect

    Nichols,J.; Xiang, S.; Schindelin, H.; Rajagopalan, K.

    2007-01-01

    The molybdenum cofactor is ubiquitous in nature, and the pathway for Moco biosynthesis is conserved in all three domains of life. Recent work has helped to illuminate one of the most enigmatic steps in Moco biosynthesis, ligation of metal to molybdopterin (the organic component of the cofactor) to form the active cofactor. In Escherichia coli, the MoeA protein mediates ligation of Mo to molybdopterin while the MogA protein enhances this process in an ATP-dependent manner. The X-ray crystal structures for both proteins have been previously described as well as two essential MogA residues, Asp49 and Asp82. Here we describe a detailed mutational analysis of the MoeA protein. Variants of conserved residues at the putative active site of MoeA were analyzed for a loss of function in two different, previously described assays, one employing moeA{sup -} crude extracts and the other utilizing a defined system. Oddly, no correlation was observed between the activity in the two assays. In fact, our results showed a general trend toward an inverse relationship between the activity in each assay. Moco binding studies indicated a strong correlation between a variant's ability to bind Moco and its activity in the purified component assay. Crystal structures of the functionally characterized MoeA variants revealed no major structural changes, indicating that the functional differences observed are not due to disruption of the protein structure. On the basis of these results, two different functional areas were assigned to regions at or near the MoeA active site cleft.

  1. [Physical activity centre VSTJ MEDICINA Prague--rehabilitation for diabetics].

    PubMed

    Fábin, P; Matoulek, M

    2007-05-01

    Physical activity is the basic non-pharmacological instrument in the treatment of type 2 diabetes. Nevertheless, only a small number of diabetics take regular physical exercise. One of the reasons why diabetics "do not exercise" is that they have little opportunity to try physical stress under expert supervision and to get to know its effects on, for example, sugar levels. It is a very complex matter to define the optimal intensity of physical activity of, for example, a diabetic who suffers from obesity. In 2001 VSTJ MEDICINA Prague opened its first physical activity centre at the First Faculty of Medicine, Charles University in Prague, in cooperation with the Third Internal Clinic and the Institute of Sports Medicine of the First Faculty of Medicine, Charles University in Prague. It now has over 2000 members, of whom around 60% are patients with metabolic syndrome. Over 150 patients exercise every day under the supervision of expert instructors. The main objective of the Physical Activity Centre is to teach patients the correct principles of physical exercise to enable them to continue carrying out their trainers' instructions at home. A correct understanding of the importance of physical exercise and practical experience under the supervision of experienced instructors improves compliance and has a strong effect on the compensation of diabetes, thereby improving the prognoses of these patients.

  2. Cleft Palate Foundation

    MedlinePlus

    ... Spanish , and Mandarin ! Information on Cleft Lip and Palate Our booklets and factsheets address a variety of ... Bear. –Paige with her Cleftline™ teddy bear– Cleft Palate Foundation 1504 East Franklin Street, Suite 102 Chapel ...

  3. Primary unilateral cleft lip repair

    PubMed Central

    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 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. PMID:19884683

  4. Electromyographic analysis of lip muscle function in operated cleft subjects.

    PubMed

    Genaro, K F; Trindade Júnior, A S; Trindade, I E

    1994-01-01

    EMG activity of the upper lip was measured with bipolar surface electrodes during speech and nonspeech tasks in order to assess labial function in subjects with repaired clefts. Eighteen patients between 15 and 23 years of age with repaired unilateral cleft lip (isolated or combined with repaired cleft palate) were compared to 24 matched noncleft subjects. Data analysis demonstrated that the amplitude of action potentials of the upper lip was significantly greater in the cleft group. We hypothesize that the enhanced activity of the repaired upper lip during function may contribute to the facial growth abnormalities usually seen in the cleft population.

  5. Active Support Is Person-Centred by Definition: A Response to Harman and Sanderson (2008)

    ERIC Educational Resources Information Center

    Jones, Edwin; Lowe, Kathy

    2008-01-01

    This article presents the authors' response to Harman and Sanderson (2008) who address the important question of how person-centred active support is. The authors' intention is not to disagree with Harman and Sanderson's general point that combining active support (AS) with person-centred planning (PCP) is better than either approach being…

  6. Cleft Palate; A Multidiscipline Approach.

    ERIC Educational Resources Information Center

    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;…

  7. Cleft lip and palate repair

    MedlinePlus

    Orofacial cleft; Craniofacial birth defect repair; Cheiloplasty; Cleft rhinoplasty; Palatoplasty; Tip rhinoplasty ... these conditions at birth. Most times, cleft lip repair is done when the child is 6 to ...

  8. Cleft Lip and Palate Surgery

    MedlinePlus

    ... The experts in face, mouth and jaw surgery. Cleft Lip / Palate and Craniofacial Surgery This type of surgery ... to correct a physical defect caused by a cleft lip or cleft palate, which occur once in every ...

  9. Children's Preferences for Group Musical Activities in Child Care Centres: A Cross-Cultural Study

    ERIC Educational Resources Information Center

    Yim, Hoi Yin Bonnie; Ebbeck, Marjory

    2009-01-01

    This paper reports on a cross-cultural research study of children's preferences for group musical activities in child care centres. A total of 228 young children aged 4-5 years in seven child care centres in Hong Kong and in the Adelaide City of South Australia participated in the study. Both qualitative and quantitative data were collected via a…

  10. Cleft lip repair - series (image)

    MedlinePlus

    ... the middle of the upper lip. A cleft palate is an opening in the roof of the mouth (palate). ... Cleft lip repair and cleft palate repair are indicated for: Repair of physical deformity Nursing, feeding, or speech problems resulting from cleft lip or palate

  11. Establishing a network of specialist Porphyria centres - effects on diagnostic activities and services

    PubMed Central

    2012-01-01

    Background The porphyrias are a heterogeneous group of rare metabolic diseases. The full spectrum of porphyria diagnostics is usually performed by specialized porphyria laboratories or centres. The European Porphyria Initiative (EPI), a collaborative network of porphyria centres formed in 2001, evolved in 2007 into the European Porphyria Network (EPNET), where participating centres are required to adhere to agreed quality criteria. The aim of this study was to examine the state and distribution of porphyria diagnostic services in 2009 and to explore potential effects of increased international collaboration in the field of these rare diseases in the period 2006–2009. Methods Data on laboratory, diagnostic and clinical activities and services reported to EPI/EPNET in yearly activity reports during 2006 through 2009 were compared between reporting centres, and possible time trends explored. Results Thirty-five porphyria centres from 22 countries, five of which were non-European associate EPNET members, filed one or more activity reports to EPI/EPNET during the study period. Large variations between centres were observed in the analytical repertoire offered, numbers of analyses performed and type and number of staff engaged. The proportion of centres fulfilling the minimum criteria set by EPNET to be classified as a specialist porphyria centre increased from 80% to 94% during the study period. Conclusions Porphyria services are unevenly distributed, and some areas are probably still lacking in specialized porphyria services altogether. However, improvements in the quality of diagnostic services provided by porphyria centres participating in EPI/EPNET were observed during 2006 through 2009. PMID:23227998

  12. [First branchial cleft anomalies].

    PubMed

    Nikoghosyan, Gohar; Krogdahl, Annelise; Godballe, Christian

    2008-05-12

    First branchial cleft anomalies are congenital rare lesions that can sometimes be difficult to diagnose. During the normal embryonic development the outer ear canal derives from the first branchial cleft. Abnormal development can result in production of a cyst, sinus or fistula with recurring infections. Early and correct diagnosis is necessary for the correct choice of surgical set-up in which identification and preservation of the facial nerve is an important step. A case of first branchial cleft sinus is presented with further discussion of classification, diagnostics and treatment. PMID:18489895

  13. Cleft-orthognathic surgery.

    PubMed

    Posnick, Jeffrey C; Ricalde, Pat

    2004-04-01

    For the cleft patient presenting in adolescence with a jaw discrepancy and malocclusion, misinformation and limited available surgical and dental expertise often prevents a favorable facial reconstruction and dental rehabilitation. A major advantage of the modified Le Fort I osteotomy is its ability to simultaneously close cleft dental gap(s), resolve oronasal fistulas, manage skeletal defects, stabilize dentoalveolar segments, and correct jaw deformities. When a thoughtful staging of reconstruction is undertaken, individuals born with cleft lip and palate can reach adolescence after undergoing only a limited number of operations and interventions, without negative attention being drawn to their original malformation. PMID:15145672

  14. Armenia as a Regional Centre for Astronomy for Development activities

    NASA Astrophysics Data System (ADS)

    Mickaelian, A.

    2015-03-01

    The Byurakan Astrophysical Observatory (BAO, Armenia, http://www.bao.am) are among the candidate IAU Regional Nodes for Astronomy for Development activities. It is one of the main astronomical centers of the former Soviet Union and the Middle East region. At present there are 48 qualified researchers at BAO, including six Doctors of Science and 30 PhDs. Five important observational instruments are installed at BAO, the larger ones being 2.6m Cassegrain (ZTA-2.6) and 1m Schmidt (the one that provided the famous Markarian survey). BAO is regarded as a national scientific-educational center, where a number of activities are being organized, such as: international conferences (4 IAU symposia and 1 IAU colloquium, JENAM-2007, etc.), small workshops and discussions, international summer schools (1987, 2006, 2008 and 2010), and Olympiads. BAO collaborates with scientists from many countries. The Armenian Astronomical Society (ArAS, http://www.aras.am/) is an NGO founded in 2001; it has 93 members and it is rather active in the organization of educational, amateur, popular, promotional and other matters. The Armenian Virtual Observatory (ArVO, http://www.aras.am/Arvo/arvo.htm) is one of the 17 national VO projects forming the International Virtual Observatories Alliance (IVOA) and is the only VO project in the region serving also for educational purposes. A number of activities are planned, such as management, coordination and evaluation of the IAU programs in the area of development and education, establishment of the new IAU endowed lectureship program and organization of seminars and public lectures, coordination and initiation of fundraising activities for astronomy development, organization of regional scientific symposia, conferences and workshops, support to Galileo Teacher Training Program (GTTP), production/publication of educational and promotional materials, etc.

  15. Are we ready to predict speech development from babble in cleft lip and palate children?

    PubMed

    Hattee, C; Farrow, K; Harland, K; Sommerlad, B; Walsh, M

    2001-01-01

    The speech development of nine children with cleft lip/palate was followed longitudinally from nine months to three years of age. The results indicate speech sound development closer to the non-cleft population than previous studies. Nasal fricatives previously not extensively described in the literature may be an experimental stage of developmental babble, which spontaneously reduce. The study has added to the evidence-base for practice in one cleft unit. It may be useful to channel resources at our centre to children who at nine months may be more at risk, i.e. children with bilateral clefts and known developmental delay.

  16. Can a satellite galaxy merger explain the active past of the Galactic Centre?

    NASA Astrophysics Data System (ADS)

    Lang, M.; Holley-Bockelmann, K.; Bogdanović, T.; Amaro-Seoane, P.; Sesana, A.; Sinha, M.

    2013-04-01

    Observations of the Galactic Centre (GC) have accumulated a multitude of `forensic' evidence indicating that several million years ago the centre of the Milky Way galaxy was teeming with star formation and accretion-powered activity - this paints a rather different picture from the GC as we understand it today. We examine a possibility that this epoch of activity could have been triggered by the infall of a satellite galaxy into the Milky Way which began at the redshift of z = 8 and ended a few million years ago with a merger of the Galactic supermassive black hole with an intermediate-mass black hole brought in by the inspiralling satellite.

  17. Assessing bone banking activities at University of Malaya medical centre.

    PubMed

    Mohd, Suhaili; Samsuddin, Sharifah Mazni; Ramalingam, Saravana; Min, Ng Wuey; Yusof, Norimah; Zaman, T Kamarul; Mansor, Azura

    2015-12-01

    The main advantage of establishing in-house bone banks is its ability to readily provide allograft bones for local surgeries. Bone procurement activities of our university bone bank during the 10 years of operation were reviewed. Socio-demographic data of donors, types of bone procured, cases of rejected bones and types of allograft bones transplanted are presented. From 179 potential donors, 73 % were accepted with 213 procured bones. Femoral head was the common bone transplanted (45 %), as it was also the most common procured (82 %). Bones were rejected mainly due to non-technical reasons (83 %) rather than positive results of microbiological (13 %) and serological (4 %) tests. Comprehensive data could not be obtained for further analysis due to difficulties in retrieving information. Therefore, quality assurance system was improved to establish more systematic documentations, as the basis of good banking practice with process control hence allowing traceability. PMID:25656787

  18. Assessing bone banking activities at University of Malaya medical centre.

    PubMed

    Mohd, Suhaili; Samsuddin, Sharifah Mazni; Ramalingam, Saravana; Min, Ng Wuey; Yusof, Norimah; Zaman, T Kamarul; Mansor, Azura

    2015-12-01

    The main advantage of establishing in-house bone banks is its ability to readily provide allograft bones for local surgeries. Bone procurement activities of our university bone bank during the 10 years of operation were reviewed. Socio-demographic data of donors, types of bone procured, cases of rejected bones and types of allograft bones transplanted are presented. From 179 potential donors, 73 % were accepted with 213 procured bones. Femoral head was the common bone transplanted (45 %), as it was also the most common procured (82 %). Bones were rejected mainly due to non-technical reasons (83 %) rather than positive results of microbiological (13 %) and serological (4 %) tests. Comprehensive data could not be obtained for further analysis due to difficulties in retrieving information. Therefore, quality assurance system was improved to establish more systematic documentations, as the basis of good banking practice with process control hence allowing traceability.

  19. A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1.

    PubMed

    Lidral, Andrew C; Liu, Huan; Bullard, Steven A; Bonde, Greg; Machida, Junichiro; Visel, Axel; Uribe, Lina M Moreno; Li, Xiao; Amendt, Brad; Cornell, Robert A

    2015-07-15

    Three common diseases, isolated cleft lip and cleft palate (CLP), hypothyroidism and thyroid cancer all map to the FOXE1 locus, but causative variants have yet to be identified. In patients with CLP, the frequency of coding mutations in FOXE1 fails to account for the risk attributable to this locus, suggesting that the common risk alleles reside in nearby regulatory elements. Using a combination of zebrafish and mouse transgenesis, we screened 15 conserved non-coding sequences for enhancer activity, identifying three that regulate expression in a tissue specific pattern consistent with endogenous foxe1 expression. These three, located -82.4, -67.7 and +22.6 kb from the FOXE1 start codon, are all active in the oral epithelium or branchial arches. The -67.7 and +22.6 kb elements are also active in the developing heart, and the -67.7 kb element uniquely directs expression in the developing thyroid. Within the -67.7 kb element is the SNP rs7850258 that is associated with all three diseases. Quantitative reporter assays in oral epithelial and thyroid cell lines show that the rs7850258 allele (G) associated with CLP and hypothyroidism has significantly greater enhancer activity than the allele associated with thyroid cancer (A). Moreover, consistent with predicted transcription factor binding differences, the -67.7 kb element containing rs7850258 allele G is significantly more responsive to both MYC and ARNT than allele A. By demonstrating that this common non-coding variant alters FOXE1 expression, we have identified at least in part the functional basis for the genetic risk of these seemingly disparate disorders.

  20. A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1

    PubMed Central

    Lidral, Andrew C.; Liu, Huan; Bullard, Steven A.; Bonde, Greg; Machida, Junichiro; Visel, Axel; Uribe, Lina M. Moreno; Li, Xiao; Amendt, Brad; Cornell, Robert A.

    2015-01-01

    Three common diseases, isolated cleft lip and cleft palate (CLP), hypothyroidism and thyroid cancer all map to the FOXE1 locus, but causative variants have yet to be identified. In patients with CLP, the frequency of coding mutations in FOXE1 fails to account for the risk attributable to this locus, suggesting that the common risk alleles reside in nearby regulatory elements. Using a combination of zebrafish and mouse transgenesis, we screened 15 conserved non-coding sequences for enhancer activity, identifying three that regulate expression in a tissue specific pattern consistent with endogenous foxe1 expression. These three, located −82.4, −67.7 and +22.6 kb from the FOXE1 start codon, are all active in the oral epithelium or branchial arches. The −67.7 and +22.6 kb elements are also active in the developing heart, and the −67.7 kb element uniquely directs expression in the developing thyroid. Within the −67.7 kb element is the SNP rs7850258 that is associated with all three diseases. Quantitative reporter assays in oral epithelial and thyroid cell lines show that the rs7850258 allele (G) associated with CLP and hypothyroidism has significantly greater enhancer activity than the allele associated with thyroid cancer (A). Moreover, consistent with predicted transcription factor binding differences, the −67.7 kb element containing rs7850258 allele G is significantly more responsive to both MYC and ARNT than allele A. By demonstrating that this common non-coding variant alters FOXE1 expression, we have identified at least in part the functional basis for the genetic risk of these seemingly disparate disorders. PMID:25652407

  1. Who Will Present It during the Broadcast? A Case Study at a Daily Activity Centre

    ERIC Educational Resources Information Center

    Reichenberg, Monica

    2016-01-01

    The present study is an investigation of a daily activity centre (DA). The overall aim was to build a grounded theory that could explain why this particular DA deviated from the norms of Swedish group homes and DAs described in previous studies. These studies have suggested that the staff stuck to old routines, such as letting the participants…

  2. Nasopharyngeal branchial cleft cyst.

    PubMed

    Chen, Po-Shao; Lin, Yu-Chieh; Lin, Yaoh-Shiang

    2012-12-01

    Second branchial cleft cysts are almost always located in the neck; thus, their presence in the nasopharynx is extremely rare. A 44-year-old man was referred to our department because a cystic mass was fortuitously found in the right lateral nasopharyngeal wall during transnasal esophagogastroscopy. He had suffered from intermittent right-sided nasal obstruction since childhood. T1- and T2-weighted magnetic resonance imaging revealed hyperintense signals. Marsupialization was performed by diode laser via an endoscopy-guided approach. No immediate postoperative complications occurred, and there was no recurrence 6 months following surgery. When a cystic lesion presents in the lateral nasopharynx, branchial cleft cyst should be considered in the differential diagnosis. In our experience, marsupialization by diode laser via an endoscopy approach is a safe and straightforward method of treating nasopharyngeal branchial cleft cyst, with no adverse effects.

  3. [Electromyography of perioral muscles in the cleft lip and palate patients with crossbite].

    PubMed

    Li, W R; Lin, J X; Fu, M K

    1994-11-01

    In this study, twenty-nine cleft lip and palate patients with anterior crossbite were chosen as study group and twenty-eight normal children, twenty-seven patients with anterior crossbite as the control groups. All subjects were examined with EMG, and found some characters of the perioral muscles activity of the cleft patients. (1) The electromyographic amplitude of the upper lip and chin muscles was higher in cleft patients than that of other two groups during swallowing of saliva (2) Activity of chin muscle in cleft patients and crossbite patients in rest position were higher than that of normal occlusion (3) The Asymmetry index of the activity of upper lip muscle in every functional positions of the cleft patients are higher than ther groups. The abnormal activity of perioral muscles of the cleft patients demonstrate that functional repairment of cleft lip and needed lip bumper are necessary.

  4. Germinal centre protein HGAL promotes lymphoid hyperplasia and amyloidosis via BCR-mediated Syk activation

    PubMed Central

    Romero-Camarero, Isabel; Jiang, Xiaoyu; Natkunam, Yasodha; Lu, Xiaoqing; Vicente-Dueñas, Carolina; Gonzalez-Herrero, Ines; Flores, Teresa; Garcia, Juan Luis; McNamara, George; Kunder, Christian; Zhao, Shuchun; Segura, Victor; Fontan, Lorena; Martínez-Climent, Jose A.; García-Criado, Francisco Javier; Theis, Jason D.; Dogan, Ahmet; Campos-Sánchez, Elena; Green, Michael R.; Alizadeh, Ash A.; Cobaleda, Cesar; Sánchez-García, Isidro; Lossos, Izidore S.

    2012-01-01

    The human germinal centre associated lymphoma (HGAL) gene is specifically expressed in germinal centre B-lymphocytes and germinal centre-derived B-cell lymphomas, but its function is largely unknown. Here we demonstrate that HGAL directly binds Syk in B-cells, increases its kinase activity upon B-cell receptor stimulation and leads to enhanced activation of Syk downstream effectors. To further investigate these findings in vivo, HGAL transgenic mice were generated. Starting from 12 months of age these mice developed polyclonal B-cell lymphoid hyperplasia, hypergammaglobulinemia and systemic reactive AA amyloidosis, leading to shortened survival. The lymphoid hyperplasia in the HGAL transgenic mice are likely attributable to enhanced B-cell receptor signalling as shown by increased Syk phosphorylation, ex vivo B-cell proliferation and increased RhoA activation. Overall, our study shows for the first time that the germinal centre protein HGAL regulates B-cell receptor signalling in B-lymphocytes which, without appropriate control, may lead to B-cell lymphoproliferation. PMID:23299888

  5. E2 superfamily of ubiquitin-conjugating enzymes: constitutively active or activated through phosphorylation in the catalytic cleft

    PubMed Central

    Valimberti, Ilaria; Tiberti, Matteo; Lambrughi, Matteo; Sarcevic, Boris; Papaleo, Elena

    2015-01-01

    Protein phosphorylation is a modification that offers a dynamic and reversible mechanism to regulate the majority of cellular processes. Numerous diseases are associated with aberrant regulation of phosphorylation-induced switches. Phosphorylation is emerging as a mechanism to modulate ubiquitination by regulating key enzymes in this pathway. The molecular mechanisms underpinning how phosphorylation regulates ubiquitinating enzymes, however, are elusive. Here, we show the high conservation of a functional site in E2 ubiquitin-conjugating enzymes. In catalytically active E2s, this site contains aspartate or a phosphorylatable serine and we refer to it as the conserved E2 serine/aspartate (CES/D) site. Molecular simulations of substrate-bound and -unbound forms of wild type, mutant and phosphorylated E2s, provide atomistic insight into the role of the CES/D residue for optimal E2 activity. Both the size and charge of the side group at the site play a central role in aligning the substrate lysine toward E2 catalytic cysteine to control ubiquitination efficiency. The CES/D site contributes to the fingerprint of the E2 superfamily. We propose that E2 enzymes can be divided into constitutively active or regulated families. E2s characterized by an aspartate at the CES/D site signify constitutively active E2s, whereas those containing a serine can be regulated by phosphorylation. PMID:26463729

  6. The gingival Stillman’s clefts: histopathology and cellular characteristics

    PubMed Central

    Cassini, Maria Antonietta; Cerroni, Loredana; Ferlosio, Amedeo; Orlandi, Augusto; Pilloni, Andrea

    2015-01-01

    Summary Aim of the study Stillman’s cleft is a mucogingival triangular-shaped defect on the buccal surface of a root with unknown etiology and pathogenesis. The aim of this study is to examine the Stillman’s cleft obtained from excision during root coverage surgical procedures at an histopathological level. Materials and method Harvesting of cleft was obtained from two periodontally healthy patients with a scalpel and a bevel incision and then placed in a test tube with buffered solution to be processed for light microscopy. Results Microscopic analysis has shown that Stillman’s cleft presented a lichenoid hand-like inflammatory infiltration, while in the periodontal patient an inflammatory fibrous hyperplasia was identified. Conclusion Stillman’s cleft remains to be investigated as for the possible causes of such lesion of the gingival margin, although an inflammatory response seems to be evident and active from a strictly histopathological standpoint. PMID:26941897

  7. The cleft team social worker.

    PubMed

    Kaye, Alison; Lybrand, Sandra

    2016-04-01

    The birth of a child with significant medical problems poses challenges for most families. Congenital orofacial clefting is a common condition affecting families worldwide. Orofacial clefting requires long-term medical care and can affect multiple body systems. Having a child with a chronic medical condition such as cleft lip or palate creates many psychosocial ramifications for a family. This article describes the importance of medical social work involvement in the coordinated care for children with cleft lip and palate. Specific cases spanning prenatal care through adolescence are used to highlight the variety of complex psychosocial situations encountered in the multidisciplinary cleft team setting.

  8. Congenital Midline Cervical Cleft

    PubMed Central

    Villanueva-Meyer, Javier; Glastonbury, Christine; Marcovici, Peter

    2015-01-01

    Congenital midline cervical cleft is a rare anomaly that typically presents in the neonatal period as a thin suprasternal vertical band of erythematous skin with a nipple-like projection superiorly, which may exude fluid. We present the clinical and pathophysiologic features and the imaging findings of this uncommon, and rarely described entity in a newborn girl. PMID:25926928

  9. Initial counselling for cleft lip and palate: parents' evaluation, needs and expectations.

    PubMed

    Kuttenberger, J; Ohmer, J N; Polska, E

    2010-03-01

    During the first counselling after the birth of a child with cleft lip and palate (CLP) information about the malformation should be delivered and a long-standing relationship between the cleft team and the affected family must be established. The present study was conducted to evaluate the parents' experiences, needs and expectations with this first consultation. A questionnaire was sent to 105 parents at the cleft clinic, which could be answered anonymously. It collected demographic data, data on the parents' pre-existing level of information and the parents' assessment of the counselling at the cleft centre. Seventy percent of the questionnaires were returned. In 16% the clefts were diagnosed prenatally, in 32% there were relatives with clefts. Seventy-one percent of the parents received detailed counselling, 89% of which occurred in the first week. The parents requested that information about surgery (80%), feeding the child (63%) and the aetiology of clefts (44%) should be given. The quality of the consultation was rated very good or good by 87% of families. This study confirms the importance of initial counselling for CLP. The exceptional psychological situation of the family has to be considered and a close collaboration between cleft centre and maternity hospitals is mandatory.

  10. Methanogenic activity and diversity in the centre of the Amsterdam Mud Volcano, Eastern Mediterranean Sea.

    PubMed

    Lazar, Cassandre Sara; John Parkes, R; Cragg, Barry A; L'Haridon, Stephane; Toffin, Laurent

    2012-07-01

    Marine mud volcanoes are geological structures emitting large amounts of methane from their active centres. The Amsterdam mud volcano (AMV), located in the Anaximander Mountains south of Turkey, is characterized by intense active methane seepage produced in part by methanogens. To date, information about the diversity or the metabolic pathways used by the methanogens in active centres of marine mud volcanoes is limited. (14)C-radiotracer measurements showed that methylamines/methanol, H(2)/CO(2) and acetate were used for methanogenesis in the AMV. Methylotrophic methanogenesis was measured all along the sediment core, Methanosarcinales affiliated sequences were detected using archaeal 16S PCR-DGGE and mcrA gene libraries, and enrichments of methanogens showed the presence of Methanococcoides in the shallow sediment layers. Overall acetoclastic methanogenesis was higher than hydrogenotrophic methanogenesis, which is unusual for cold seep sediments. Interestingly, acetate porewater concentrations were extremely high in the AMV sediments. This might be the result of organic matter cracking in deeper hotter sediment layers. Methane was also produced from hexadecanes. For the most part, the methanogenic community diversity was in accordance with the depth distribution of the H(2)/CO(2) and acetate methanogenesis. These results demonstrate the importance of methanogenic communities in the centres of marine mud volcanoes.

  11. Methanogenic activity and diversity in the centre of the Amsterdam Mud Volcano, Eastern Mediterranean Sea.

    PubMed

    Lazar, Cassandre Sara; John Parkes, R; Cragg, Barry A; L'Haridon, Stephane; Toffin, Laurent

    2012-07-01

    Marine mud volcanoes are geological structures emitting large amounts of methane from their active centres. The Amsterdam mud volcano (AMV), located in the Anaximander Mountains south of Turkey, is characterized by intense active methane seepage produced in part by methanogens. To date, information about the diversity or the metabolic pathways used by the methanogens in active centres of marine mud volcanoes is limited. (14)C-radiotracer measurements showed that methylamines/methanol, H(2)/CO(2) and acetate were used for methanogenesis in the AMV. Methylotrophic methanogenesis was measured all along the sediment core, Methanosarcinales affiliated sequences were detected using archaeal 16S PCR-DGGE and mcrA gene libraries, and enrichments of methanogens showed the presence of Methanococcoides in the shallow sediment layers. Overall acetoclastic methanogenesis was higher than hydrogenotrophic methanogenesis, which is unusual for cold seep sediments. Interestingly, acetate porewater concentrations were extremely high in the AMV sediments. This might be the result of organic matter cracking in deeper hotter sediment layers. Methane was also produced from hexadecanes. For the most part, the methanogenic community diversity was in accordance with the depth distribution of the H(2)/CO(2) and acetate methanogenesis. These results demonstrate the importance of methanogenic communities in the centres of marine mud volcanoes. PMID:22458514

  12. Genetics of Cleft Lip and Cleft Palate

    PubMed Central

    Leslie, Elizabeth J.; Marazita, Mary L.

    2013-01-01

    Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with these birth defects and their family members: from subclinical phenotypes to associated syndromic features that is mirrored by the many genes that contribute to the etiology of these disorders. Identification of these genes and loci has been the result of decades of research using multiple genetic approaches. Significant progress has been made recently due to advances in sequencing and genotyping technologies, primarily through the use of whole exome sequencing and genome-wide association studies. Future progress will hinge on identifying functional variants, investigation of pathway and other interactions, and inclusion of phenotypic and ethnic diversity in studies. PMID:24124047

  13. Perceptions of Estonian Pre-School Teachers about the Child-Centred Activities in Different Pedagogical Approaches

    ERIC Educational Resources Information Center

    Oun, Tiia; Ugaste, Aino; Tuul, Maire; Niglas, Katrin

    2010-01-01

    The aim of this study was to examine how teachers in the Step by Step and traditional kindergartens assess their child-centred activities. 308 teachers participated in the study and a questionnaire was used. The results of the study showed that teachers in the Step by Step programme used a child-centred approach more in their work than teachers in…

  14. Ligand Binding to the FA3-FA4 Cleft Inhibits the Esterase-Like Activity of Human Serum Albumin

    PubMed Central

    Ascenzi, Paolo; Leboffe, Loris; di Masi, Alessandra; Trezza, Viviana; Fanali, Gabriella; Gioia, Magda; Coletta, Massimo; Fasano, Mauro

    2015-01-01

    The hydrolysis of 4-nitrophenyl esters of hexanoate (NphOHe) and decanoate (NphODe) by human serum albumin (HSA) at Tyr411, located at the FA3-FA4 site, has been investigated between pH 5.8 and 9.5, at 22.0°C. Values of Ks, k+2, and k+2/Ks obtained at [HSA] ≥ 5×[NphOXx] and [NphOXx] ≥ 5×[HSA] (Xx is NphOHe or NphODe) match very well each other; moreover, the deacylation step turns out to be the rate limiting step in catalysis (i.e., k+3 << k+2). The pH dependence of the kinetic parameters for the hydrolysis of NphOHe and NphODe can be described by the acidic pKa-shift of a single amino acid residue, which varies from 8.9 in the free HSA to 7.6 and 7.0 in the HSA:NphOHe and HSA:NphODe complex, respectively; the pK>a-shift appears to be correlated to the length of the fatty acid tail of the substrate. The inhibition of the HSA-Tyr411-catalyzed hydrolysis of NphOHe, NphODe, and 4-nitrophenyl myristate (NphOMy) by five inhibitors (i.e., diazepam, diflunisal, ibuprofen, 3-indoxyl-sulfate, and propofol) has been investigated at pH 7.5 and 22.0°C, resulting competitive. The affinity of diazepam, diflunisal, ibuprofen, 3-indoxyl-sulfate, and propofol for HSA reflects the selectivity of the FA3-FA4 cleft. Under conditions where Tyr411 is not acylated, the molar fraction of diazepam, diflunisal, ibuprofen, and 3-indoxyl-sulfate bound to HSA is higher than 0.9 whereas the molar fraction of propofol bound to HSA is ca. 0.5. PMID:25790235

  15. Ligand binding to the FA3-FA4 cleft inhibits the esterase-like activity of human serum albumin.

    PubMed

    Ascenzi, Paolo; Leboffe, Loris; di Masi, Alessandra; Trezza, Viviana; Fanali, Gabriella; Gioia, Magda; Coletta, Massimo; Fasano, Mauro

    2015-01-01

    The hydrolysis of 4-nitrophenyl esters of hexanoate (NphOHe) and decanoate (NphODe) by human serum albumin (HSA) at Tyr411, located at the FA3-FA4 site, has been investigated between pH 5.8 and 9.5, at 22.0°C. Values of Ks, k+2, and k+2/Ks obtained at [HSA] ≥ 5×[NphOXx] and [NphOXx] ≥ 5×[HSA] (Xx is NphOHe or NphODe) match very well each other; moreover, the deacylation step turns out to be the rate limiting step in catalysis (i.e., k+3 < k+2). The pH dependence of the kinetic parameters for the hydrolysis of NphOHe and NphODe can be described by the acidic pKa-shift of a single amino acid residue, which varies from 8.9 in the free HSA to 7.6 and 7.0 in the HSA:NphOHe and HSA:NphODe complex, respectively; the pK>a-shift appears to be correlated to the length of the fatty acid tail of the substrate. The inhibition of the HSA-Tyr411-catalyzed hydrolysis of NphOHe, NphODe, and 4-nitrophenyl myristate (NphOMy) by five inhibitors (i.e., diazepam, diflunisal, ibuprofen, 3-indoxyl-sulfate, and propofol) has been investigated at pH 7.5 and 22.0°C, resulting competitive. The affinity of diazepam, diflunisal, ibuprofen, 3-indoxyl-sulfate, and propofol for HSA reflects the selectivity of the FA3-FA4 cleft. Under conditions where Tyr411 is not acylated, the molar fraction of diazepam, diflunisal, ibuprofen, and 3-indoxyl-sulfate bound to HSA is higher than 0.9 whereas the molar fraction of propofol bound to HSA is ca. 0.5. PMID:25790235

  16. Clefting in pumpkin balloons

    NASA Astrophysics Data System (ADS)

    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.

  17. Oral clefts: a retrospective study of prevalence and predisposal factors in the State of Mexico.

    PubMed

    González, Blanca S; López, María L; Rico, Martha A; Garduño, Fernando

    2008-06-01

    The purpose of this study was to up-date the records concerning oral clefts (OCs) encountered at the Child Hospital of the Maternal Infantile Institute of the State of México, and to examine the association of predisposing factors. A retrospective study of the medical records of patients generated over a 5-year period was carried out. A total of 835 files were reviewed, representing 504 boys and 331 girls. The studied variables were the type of oral clefts and predisposing factors. Kendal correlations at P < or = 0.05 and chi-squared at P < or = 0.05 were used to find any associations between variables. The distribution of oral cleft was: cleft lip and palate (CLP) 70%, cleft palate (CP) 21%, cleft lip (CL) 8%, separate cleft lip and cleft palate 1%. The sex ratios were 1.7 for CLP, 1.7 for CL, and 1 for CP. Municipalities with ethnic groups as well as industrial, agricultural and pottery activities showed a high rate of prevalence. Although there was no significant association with birth weight, familial history of clefting, consanguinity, medication usage during pregnancy, or paternal occupational risk, the results suggested that the most severe clefts were proportionally related to these factors. A significant association with maternal and paternal age, abortion rate, and parity was found. Additionally, maternal agricultural activities suggested that pesticide exposure might be a factor. PMID:18587200

  18. The Cleft Care UK study. Part 4: perceptual speech outcomes

    PubMed Central

    Sell, D; Mildinhall, S; Albery, L; Wills, A K; Sandy, J R; Ness, A R

    2015-01-01

    Structured Abstract Objectives To describe the perceptual speech outcomes from the Cleft Care UK (CCUK) study and compare them to the 1998 Clinical Standards Advisory Group (CSAG) audit. Setting and sample population A cross-sectional study of 248 children born with complete unilateral cleft lip and palate, between 1 April 2005 and 31 March 2007 who underwent speech assessment. Materials and methods Centre-based specialist speech and language therapists (SLT) took speech audio–video recordings according to nationally agreed guidelines. Two independent listeners undertook the perceptual analysis using the CAPS-A Audit tool. Intra- and inter-rater reliability were tested. Results For each speech parameter of intelligibility/distinctiveness, hypernasality, palatal/palatalization, backed to velar/uvular, glottal, weak and nasalized consonants, and nasal realizations, there was strong evidence that speech outcomes were better in the CCUK children compared to CSAG children. The parameters which did not show improvement were nasal emission, nasal turbulence, hyponasality and lateral/lateralization. Conclusion These results suggest that centralization of cleft care into high volume centres has resulted in improvements in UK speech outcomes in five-year-olds with unilateral cleft lip and palate. This may be associated with the development of a specialized workforce. Nevertheless, there still remains a group of children with significant difficulties at school entry. PMID:26567854

  19. A review of cleft lip and palate management: Experience of a Nigerian Teaching Hospital

    PubMed Central

    Efunkoya, Akinwale Adeyemi; Omeje, Kelvin Uchenna; Amole, Ibiyinka Olushola; Osunde, Otasowie Daniel; Akpasa, Izegboya Olohitae

    2015-01-01

    Background: Cleft lip (CL) and palate (CLP) management is multidisciplinary. A cleft team was formed in a Nigerian Tertiary Hospital to address the health needs of cleft patients in the centre. Aim: This paper aims at documenting the Aminu Kano Teaching Hospital (AKTH) management protocol for orofacial clefts and also to review our experience with CLP surgeries performed at AKTH since our partnering with Smile Train. Materials and Methods: A retrospective review of all the cleft patients surgically treated from January 2006 to December 2014 under Smile Train sponsorship was undertaken. A descriptive narrative of the cleft team protocol was also given. Results: One hundred and fifty-five patients (80 males, 75 females) had surgical repairs of either the lip or palate. CL patients were 83 (53.55%), while CLP patients were 45 (29.03%) and isolated cleft palate patients were 27 (17.42%). Conclusion: The inclusion of various specialities in the cleft team is highly desirable. Poverty level amongst our patients frequently limits our management to surgical treatment sponsored by the Smile Train, despite the presence of other residual problems. PMID:26712291

  20. Lip Prints and Inheritance of Cleft Lip and Cleft Palate

    PubMed Central

    CJ, Manasa Ravath; HC, Girish; Hegde, Ramesh B; JK, Savita

    2014-01-01

    Background: Labial mucosa has elevations and depressions forming a pattern called ‘Lip Prints’. Parents of patients with cleft lip &/or palate are known to have a particular lip print pattern. Objectives: Analysis of lip prints and relationship between Cheiloscopy and inheritance of cleft lip &/or cleft palate. Methodology: The study included 100 subjects [study groupparents with children having cleft lip &/or cleft palate, 50 fathers and 50 mothers) and 50 subjects (control group-parents having children without cleft lip &/or cleft palate, 25 fathers and 25 mothers. The lip prints of the subjects were obtained using the cellophane method and analysed using Suzuki & Tsuchihashi classification of lip prints. The data was subjected to Chi- Square test, Fisher Exact test and Student t-test [two tailed, independent]. Results: A new whorl pattern was present in the study group. The groove count was higher in the fathers’ than in the mothers’ prints in the upper lip and vice versa in the lower lip. Conclusion: The new pattern was present in the study group in a significant number of cases. The groove count was significantly high in the study group. These two parameters can be of significant value to similar future studies. PMID:25177633

  1. Equatorward shift of the cleft during magnetospheric substorms as observed by Isis 1

    NASA Technical Reports Server (NTRS)

    Yasuhara, F.; Akasofu, S.-I.; Winningham, J. D.; Heikkila , W. J.

    1973-01-01

    Isis 1 satellite observations of the cleft position during magnetospheric substorms show that the cleft shifts equatorward as the interplanetary B sub z component turns southward and substorm activity increases and that it shifts back toward higher latitudes as substorm activity subsides and B sub z returns northward. Also, unusually low latitudes for the cleft (less than 70 deg invariant latitude) were found during geomagnetic storms with significant Dst values and large negative B sub z values. Significant shifts occur in the cleft location with no accompanying effect seen in the AE index; however, B sub z is observed to be southward during these periods.

  2. CLEFT PALATE. FOUNDATIONS OF SPEECH PATHOLOGY SERIES.

    ERIC Educational Resources Information Center

    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…

  3. Molecular basis of cleft palates in mice

    PubMed Central

    Funato, Noriko; Nakamura, Masataka; Yanagisawa, Hiromi

    2015-01-01

    Cleft palate, including complete or incomplete cleft palates, soft palate clefts, and submucosal cleft palates, is the most frequent congenital craniofacial anomaly in humans. Multifactorial conditions, including genetic and environmental factors, induce the formation of cleft palates. The process of palatogenesis is temporospatially regulated by transcription factors, growth factors, extracellular matrix proteins, and membranous molecules; a single ablation of these molecules can result in a cleft palate in vivo. Studies on knockout mice were reviewed in order to identify genetic errors that lead to cleft palates. In this review, we systematically describe these mutant mice and discuss the molecular mechanisms of palatogenesis. PMID:26322171

  4. Structures of two superoxide dismutases from Bacillus anthracis reveal a novel active centre

    SciTech Connect

    Boucher, Ian W.; Kalliomaa, Anne K.; Levdikov, Vladimir M.; Blagova, Elena V.; Fogg, Mark J.; Brannigan, James A. Wilson, Keith S.; Wilkinson, Anthony J.

    2005-07-01

    The crystal structures of two manganese superoxide dismutases from B. anthracis were solved by X-ray crystallography using molecular replacement. The BA4499 and BA5696 genes of Bacillus anthracis encode proteins homologous to manganese superoxide dismutase, suggesting that this organism has an expanded repertoire of antioxidant proteins. Differences in metal specificity and quaternary structure between the dismutases of prokaryotes and higher eukaryotes may be exploited in the development of therapeutic antibacterial compounds. Here, the crystal structure of two Mn superoxide dismutases from B. anthracis solved to high resolution are reported. Comparison of their structures reveals that a highly conserved residue near the active centre is substituted in one of the proteins and that this is a characteristic feature of superoxide dismutases from the B. cereus/B. anthracis/B. thuringiensis group of organisms.

  5. Effect of acidic amino acids engineered into the active site cleft of Thermopolyspora flexuosa GH11 xylanase.

    PubMed

    Li, He; Turunen, Ossi

    2015-01-01

    Thermopolyspora flexuosa GH11 xylanase (XYN11A) shows optimal activity at pH 6-7 and 75-80 °C. We studied how mutation to aspartic acid (N46D and V48D) in the vicinity of the catalytic acid/base affects the pH activity of highly thermophilic GH11 xylanase. Both mutations shifted the pH activity profile toward acidic pH. In general, the Km values were lower at pH 4-5 than at pH 6, and in line with this, the rate of hydrolysis of xylotetraose was slightly faster at pH 4 than at pH 6. The N46D mutation and also lower pH in XYN11A increased the hydrolysis of xylotriose. The Km value increased remarkably (from 2.5 to 11.6 mg/mL) because of V48D, which indicates the weakening of binding affinity of the substrate to the active site. Xylotetraose functioned well as a substrate for other enzymes, but with lowered reaction rate for V48D. Both N46D and V48D increased the enzyme inactivation by ionic liquid [emim]OAc. In conclusion, the pH activity profile could be shifted to acidic pH due to an effect from two different directions, but the tightly packed GH11 active site can cause steric problems for the mutations.

  6. The Intraprofessional Continuum and Cleft.

    PubMed

    Jensen, Clyde B

    2016-08-01

    The continuum cleft is a costly and precarious gap that divides professions on the health professions' continuum. It is an interprofessional phenomenon that is encouraged because health care professions protect their members in professional silos and isolate competing professions in professional cysts. This article uses case studies of the allopathic, osteopathic, naturopathic, and chiropractic professions to contemplate the existence, consequences, and possible mitigation of intraprofessional silos, cysts, and clefts. PMID:27574493

  7. Pupil's Opportunities to Influence Activities: A Study of Everyday Practice at a Swedish Leisure-Time Centre

    ERIC Educational Resources Information Center

    Haglund, Björn

    2015-01-01

    The focal point of this article is a discussion of pupils' opportunities to make their voices heard and influence the activity in a Swedish leisure-time centre. The study comprises six weeks of ethnographically inspired field work including data from participating observations and walk-and-talk conversations. Two voluntary activities, referred to…

  8. Reconstruction of #7 facial cleft with distraction-assisted in situ osteogenesis (DISO): role of recombinant human bone morphogenetic protein-2 with Helistat-activated collagen implant.

    PubMed

    Carstens, Michael H; Chin, Martin; Ng, Theodore; Tom, William K

    2005-11-01

    A case involving concomitant presentation of a #7 lateral facial cleft with a complete cleft of the ipsilateral lip, alveolus, and palate is presented. The mandibular defect was Pruzansky III with a foreshortened body, absent ramus and absent masseter. Taking advantage of developmental field theory, reconstruction of the osseous defect was undertaken using the autogenous periosteum as a source of mesenchymal stem cells. Expansion of the periosteum was followed by implantation of Helistat (Integra Life Sciences, Plainsboro, NJ) collagen sponge saturated with recombinant human bone morphogenetic protein-2. Stimulation of this distraction-induced envelope by rhBMP-2 resulted in abundant production of bicortical membranous bone in situ within 12 weeks. The neoramus was subsequently suspended from the cranial base, and a temporalis muscle transfer was used to provide motor control of the jaw. Synthesis of bone in this manner is termed DISO (distraction-assisted in situ osteogenesis). The biologic rationale and clinical implications of DISO are discussed.

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

    PubMed

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

    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. PMID:27343556

  10. Confirmatory biopsy for the assessment of prostate cancer in men considering active surveillance: reference centre experience

    PubMed Central

    Bosco, Cecilia; Cozzi, Gabriele; Kinsella, Janette; Bianchi, Roberto; Acher, Peter; Challacombe, Benjamin; Popert, Rick; Brown, Christian; George, Gincy; Van Hemelrijck, Mieke; Cahill, Declan

    2016-01-01

    Objectives To evaluate how accurate a 12-core transrectal biopsy derived low-risk prostate cancer diagnosis is for an active surveillance programme by comparing the histological outcome with that from confirmatory transperineal sector biopsy. Subjects and methods The cohort included 166 men diagnosed with low volume Gleason score 3+3 prostate cancer on initial transrectal biopsy who also underwent a confirmatory biopsy. Both biopsy techniques were performed according to standard protocols and samples were taken for histopathology analysis. Subgroup analysis was performed according to disease severity at baseline to determine possible disease parameters of upgrading at confirmatory biopsy. Results After confirmatory biopsy, 34% demonstrated Gleason score upgrade, out of which 25% were Gleason score 3+4 and 8.5% primary Gleason pattern 4. Results remained consistent for the subgroup analysis and a weak positive association, but not statistically significant, between prostate specific antigen (PSA), age, and percentage of positive cores, and PCa upgrading at confirmatory biopsy was found. Conclusion In our single centre study, we found that one-third of patients had higher Gleason score at confirmatory biopsy. Furthermore 8.5% of these upgraders had a primary Gleason pattern 4. Our results together with previously published evidence highlight the need for the revision of current guidelines in prostate cancer diagnosis for the selection of men for active surveillance. PMID:27170833

  11. Cleavage of hydrogen by activation at a single non-metal centre - towards new hydrogen storage materials.

    PubMed

    Grabowski, Sławomir J

    2015-05-28

    Molecular surfaces of non-metal species are often characterized by both positive and negative regions of electrostatic potential (EP) at a non-metal centre. This centre may activate molecular hydrogen which further leads to the addition reaction. The positive EP regions at the non-metal centres correspond to σ-holes; the latter sites are enhanced by electronegative substituents. This is why the following simple moieties; PFH2, SFH, AsFH2, SeFH, BrF3, PF(CH3)2 and AsF(CH3)2, were chosen here to analyze the H2 activation and its subsequent splitting at the P, As, S, Se and Br centres. Also the reverse H-H bond reforming process is analyzed. MP2/aug-cc-pVTZ calculations were performed for systems corresponding to different stages of these processes. The sulphur centre in the SFH moiety is analyzed in detail since the potential barrier height for the addition reaction for this species is the lowest of the moieties analyzed here. The results of calculations show that the SFH + H2 → SFH3 reaction in the gas phase is endothermic but it is exothermic in polar solvents. PMID:25939477

  12. Cleavage of hydrogen by activation at a single non-metal centre - towards new hydrogen storage materials.

    PubMed

    Grabowski, Sławomir J

    2015-05-28

    Molecular surfaces of non-metal species are often characterized by both positive and negative regions of electrostatic potential (EP) at a non-metal centre. This centre may activate molecular hydrogen which further leads to the addition reaction. The positive EP regions at the non-metal centres correspond to σ-holes; the latter sites are enhanced by electronegative substituents. This is why the following simple moieties; PFH2, SFH, AsFH2, SeFH, BrF3, PF(CH3)2 and AsF(CH3)2, were chosen here to analyze the H2 activation and its subsequent splitting at the P, As, S, Se and Br centres. Also the reverse H-H bond reforming process is analyzed. MP2/aug-cc-pVTZ calculations were performed for systems corresponding to different stages of these processes. The sulphur centre in the SFH moiety is analyzed in detail since the potential barrier height for the addition reaction for this species is the lowest of the moieties analyzed here. The results of calculations show that the SFH + H2 → SFH3 reaction in the gas phase is endothermic but it is exothermic in polar solvents.

  13. Facial morphometrics of children with NON-syndromic orofacial clefts in Tanzania

    PubMed Central

    2014-01-01

    Background Orofacial clefts (cleft lip/palate; CL/P) are among the most common congenital anomalies, with prevalence that varies among different ethnic groups. Craniofacial shape differences between individuals with CL/P and healthy controls have been widely reported in non-African populations. Knowledge of craniofacial shape among individuals with non-syndromic CL/P in African populations will provide further understanding of the ethnic and phenotypic variation present in non-syndromic orofacial clefts. Methods A descriptive cross-sectional study was carried out at Bugando Medical Centre, Tanzania, comparing individuals with unrepaired non-syndromic CL/P and normal individuals without orofacial clefts. Three-dimensional (3D) facial surfaces were captured using a non-invasive 3D camera. The corresponding 3D coordinates for 26 soft tissue landmarks were used to characterize facial shape. Facial shape variation within and between groups, based on Procrustes superimposed data, was studied using geometric morphometric methods. Results Facial shape of children with cleft lip differed significantly from the control group, beyond the cleft itself. The CL/P group exhibited increased nasal and mouth width, increased interorbital distance, and more prognathic premaxillary region. Within the CL/P group, PCA showed that facial shape variation is associated with facial height, nasal cavity width, interorbital distance and midfacial prognathism. The isolated cleft lip (CL) and combined cleft lip and palate (CLP) groups did not differ significantly from one another (Procrustes distance = 0.0416, p = 0.50). Procrustes distance permutation tests within the CL/P group showed a significant shape difference between unilateral clefts and bilateral clefts (Procrustes distance = 0.0728, p = 0.0001). Our findings indicate the morphological variation is similar to those of studies of CL/P patients and their unaffected close relatives in non-African populations. Conclusion

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

    ERIC Educational Resources Information Center

    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…

  15. Intrasphenoidal rathke cleft cyst.

    PubMed

    Megdiche-Bazarbacha, H; Ben Hammouda, K; Aicha, A B; Sebai, R; Belghith, L; Khaldi, M; Touibi, S

    2006-05-01

    Symptomatic Rathke cleft cysts (RCC) are reported in the sellar and suprasellar regions, but no case of sphenoidal RCC has been reported. We report a case of sphenoidal RCC in a 41-year-old man. The lesion was revealed by headaches and diplopia. Symptoms disappeared transiently after a spontaneous rhinorrhea but relapsed 4 months later. MR imaging showed a cystic sphenoidal lesion, isointense on T1-weighted images (WI) with peripheral gadolinium enhancement and hyperintense on T2 WI. The patient underwent surgery through a transrhinoseptal approach. The wall of the sphenoid sinus was paper-thin. The cyst contained a motor-oil-like fluid and communicated widely with the nasal fossa. Its wall was partially extracted. Symptoms and signs ceased after surgery. MR imaging performed 1 year later showed the disappearance of the sphenoidal cyst. Embryological origin of RCCs is discussed. The hypothesis of a continuum between the different epithelial cystic lesions of the sellar and parasellar region is discussed. Imaging has an important impact on the diagnosis; nevertheless, the specific characterization remains difficult. PMID:16687551

  16. Understanding Cleft and Craniofacial Team Care

    MedlinePlus

    ... Donor Spotlight Fundraising Ideas Vehicle Donation Volunteer Efforts Cleft Lip/Palate & Craniofacial Specialists in Your Area skip to submenu Parents & Individuals Cleft Lip/Palate & Craniofacial Specialists in Your Area Team Disclaimer ...

  17. Cleft lip: The historical perspective

    PubMed Central

    Bhattacharya, S.; Khanna, V.; Kohli, R.

    2009-01-01

    The earliest documented history of cleft lip is based on a combination of religion, superstition, invention and charlatanism. While Greeks ignored their existence, Spartans and Romans would kill these children as they were considered to harbour evil spirits. When saner senses prevailed Fabricius ab Aquapendente (1537–1619) was the first to suggest the embryological basis of these clefts. The knowledge of cleft lip and the surgical correction received a big boost during the period between the Renaissance and the 19th century with the publication of Pierre Franco's Petit Traité and Traité des Hernies in which he described the condition as “lievré fendu de nativité” (cleft lip present from birth). The first documented Cleft lip surgery is from China in 390 BC in an 18 year old would be soldier, Wey Young-Chi. Albucasis of Arabia and his fellow surgeons used the cautery instead of the scalpel and Yperman in 1854 recommended scarifying the margins with a scalpel before suturing them with a triangular needle dipped in wax. The repair was reinforced by passing a long needle through the two sides of the lip and fixing the shaft of the needle with a figure-of-eight thread over the lip. Germanicus Mirault can be credited to be the originator of the triangular flap which was later modified by C.W. Tennison in 1952 and Peter Randall in 1959. In the late 50s, Ralph Millard gave us his legendary ‘cut as you go’ technique. The protruding premaxilla of a bilateral cleft lip too has seen many changes throughout the ages – from being discarded totally to being pushed back by wedge resection of vomer to finally being left to the orthodontists. PMID:19884680

  18. Oral cleft prevention program (OCPP)

    PubMed Central

    2012-01-01

    Background Oral clefts are one of the most common birth defects with significant medical, psychosocial, and economic ramifications. Oral clefts have a complex etiology with genetic and environmental risk factors. There are suggestive results for decreased risks of cleft occurrence and recurrence with folic acid supplements taken at preconception and during pregnancy with a stronger evidence for higher than lower doses in preventing recurrence. Yet previous studies have suffered from considerable design limitations particularly non-randomization into treatment. There is also well-documented effectiveness for folic acid in preventing neural tube defect occurrence at 0.4 mg and recurrence with 4 mg. Given the substantial burden of clefting on the individual and the family and the supportive data for the effectiveness of folic acid supplementation as well as its low cost, a randomized clinical trial of the effectiveness of high versus low dose folic acid for prevention of cleft recurrence is warranted. Methods/design This study will assess the effect of 4 mg and 0.4 mg doses of folic acid, taken on a daily basis during preconception and up to 3 months of pregnancy by women who are at risk of having a child with nonsyndromic cleft lip with/without palate (NSCL/P), on the recurrence of NSCL/P. The total sample will include about 6,000 women (that either have NSCL/P or that have at least one child with NSCL/P) randomly assigned to the 4 mg and the 0.4 mg folic acid study groups. The study will also compare the recurrence rates of NSCL/P in the total sample of subjects, as well as the two study groups (4mg, 0.4 mg) to that of a historical control group. The study has been approved by IRBs (ethics committees) of all involved sites. Results will be disseminated through publications and presentations at scientific meetings. Discussion The costs related to oral clefts are high, including long term psychological and socio-economic effects. This study provides an opportunity for

  19. Phosphate binding in the active centre of tomato multifunctional nuclease TBN1 and analysis of superhelix formation by the enzyme.

    PubMed

    Stránský, Jan; Koval', Tomáš; Podzimek, Tomáš; Týcová, Anna; Lipovová, Petra; Matoušek, Jaroslav; Kolenko, Petr; Fejfarová, Karla; Dušková, Jarmila; Skálová, Tereza; Hašek, Jindřich; Dohnálek, Jan

    2015-11-01

    Tomato multifunctional nuclease TBN1 belongs to the type I nuclease family, which plays an important role in apoptotic processes and cell senescence in plants. The newly solved structure of the N211D mutant is reported. Although the main crystal-packing motif (the formation of superhelices) is conserved, the details differ among the known structures. A phosphate ion was localized in the active site of the enzyme. The binding of the surface loop to the active centre is stabilized by the phosphate ion, which correlates with the observed aggregation of TBN1 in phosphate buffer. The conserved binding of the surface loop to the active centre suggests biological relevance of the contact in a regulatory function or in the formation of oligomers. PMID:26527269

  20. Phonologic processes in children with cleft palate.

    PubMed

    Chapman, K L

    1993-01-01

    This study examined the phonologic process usage of 3-, 4- and 5-year-old children with cleft palate. Sixty children served as subjects: 30 children with cleft palate (with or without cleft lip) and 30 noncleft palate children. The children's whole word productions were analyzed for frequency and type of phonologic process usage. Results indicated that the 3- and 4-year old children with cleft palate exhibited more instances of process usage, compared to their noncleft peers. The 5-year-old cleft and noncleft groups were similar in total instances of process usage. Further, the children with cleft palate employed common phonologic processes; however, some processes were noted more frequently in the speech of the 3-year-old children with cleft palate.

  1. Simulating clefts in pumpkin balloons

    NASA Astrophysics Data System (ADS)

    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.

  2. Cleft palate. Selected case studies.

    PubMed

    Philips, B J

    1991-01-01

    These case studies provide small, selected samples of the results of assessments of articulation skills and their phonologic applications and give some information related to velopharyngeal function during speech. These illustrations were based chiefly on perceptual assessment of speech because this type of assessment is used routinely by SLPs, and does not require instrumentation. Indicators for referral and communication to a cleft palate team were derived from the perceptual evaluation. Other articles in this issue discuss procedures for evaluation in considerable detail. Early identification of possible velopharyngeal problems and early referral to a cleft palate team can help to resolve speech, language, and hearing disorders related to cleft palate and velopharyngeal dysfunction. People who comprise cleft palate and craniofacial teams are most likely to have the experience, and the special instrumentation necessary, to make a definitive diagnosis. The team's comprehensive multidisciplinary evaluation should lead to thorough consideration of the many factors that are important for treatment planning. The information and services provided by the team will assist the audiologist and SLP in the conduct of their services for these clients. In this way, the communication disorders specialist becomes an affiliate of the team. The affiliate not only acts as a referent, but also may provide the necessary longitudinal services. The best interests of the client are promoted by ongoing communication between the team and the affiliates of the team.

  3. Prevention of Communication Problems Associated with Cleft Palate.

    ERIC Educational Resources Information Center

    Pannbacker, Mary

    1988-01-01

    The paper reviews principles of preventative intervention and their application to communication problems associated with cleft palate. Ten specific suggestions (such as continuing professional education, identification of adenoidal atrophy, and prompt referral for secondary management) and activities are described. (Author/DB)

  4. Challenges in a Physics Course: Introducing Student-Centred Activities for Increased Learning

    ERIC Educational Resources Information Center

    Hernandez, Carola; Ravn, Ole; Forero-Shelton, Manu

    2014-01-01

    This article identifies and analyses some of the challenges that arose in a development process of changing from a content-based teaching environment to a student-centred environment in an undergraduate physics course for medicine and biology students at Universidad de los Andes. Through the use of the Critical Research model proposed by Skovsmose…

  5. Properties and metathesis activity of monomeric and dimeric Mo centres variously located on γ-alumina A DFT study

    NASA Astrophysics Data System (ADS)

    Handzlik, Jarosław

    2007-05-01

    Ethene metathesis proceeding on monomeric and dimeric Mo species on the (1 0 0) and (1 1 0) γ-alumina is investigated by density functional theory, applying the cluster approach. The calculated vibrational frequencies of the surface OH groups are assigned to the experimental IR bands. It is shown that both monomeric and dimeric Mo forms can be the active sites of olefin metathesis. Metathesis activity and stability of the Mo-methylidene centres depend on their location on alumina. The differences in the sites reactivity are explained on the basis of their geometrical and electronic structure parameters. For the monomeric centres, isomerisation of the trigonal bipyramidal intermediate to the stable square pyramidal molybdacyclobutane is kinetically favoured over the cycloreversal step. The situation is opposite in the case of the dimeric species.

  6. Methanogenic diversity and activity in hypersaline sediments of the centre of the Napoli mud volcano, Eastern Mediterranean Sea.

    PubMed

    Lazar, Cassandre Sara; Parkes, R John; Cragg, Barry A; L'Haridon, Stéphane; Toffin, Laurent

    2011-08-01

    Submarine mud volcanoes are a significant source of methane to the atmosphere. The Napoli mud volcano, situated in the brine-impacted Olimpi Area of the Eastern Mediterranean Sea, emits mainly biogenic methane particularly at the centre of the mud volcano. Temperature gradients support the suggestion that Napoli is a cold mud volcano with moderate fluid flow rates. Biogeochemical and molecular genetic analyses were carried out to assess the methanogenic activity rates, pathways and diversity in the hypersaline sediments of the centre of the Napoli mud volcano. Methylotrophic methanogenesis was the only significant methanogenic pathway in the shallow sediments (0-40 cm) but was also measured throughout the sediment core, confirming that methylotrophic methanogens could be well adapted to hypersaline environments. Hydrogenotrophic methanogenesis was the dominant pathway below 50 cm; however, low rates of acetoclastic methanogenesis were also present, even in sediment layers with the highest salinity, showing that these methanogens can thrive in this extreme environment. PCR-DGGE and methyl coenzyme M reductase gene libraries detected sequences affiliated with anaerobic methanotrophs (mainly ANME-1) as well as Methanococcoides methanogens. Results show that the hypersaline conditions in the centre of the Napoli mud volcano influence active biogenic methane fluxes and methanogenic/methylotrophic diversity. PMID:21382146

  7. Methanogenic diversity and activity in hypersaline sediments of the centre of the Napoli mud volcano, Eastern Mediterranean Sea.

    PubMed

    Lazar, Cassandre Sara; Parkes, R John; Cragg, Barry A; L'Haridon, Stéphane; Toffin, Laurent

    2011-08-01

    Submarine mud volcanoes are a significant source of methane to the atmosphere. The Napoli mud volcano, situated in the brine-impacted Olimpi Area of the Eastern Mediterranean Sea, emits mainly biogenic methane particularly at the centre of the mud volcano. Temperature gradients support the suggestion that Napoli is a cold mud volcano with moderate fluid flow rates. Biogeochemical and molecular genetic analyses were carried out to assess the methanogenic activity rates, pathways and diversity in the hypersaline sediments of the centre of the Napoli mud volcano. Methylotrophic methanogenesis was the only significant methanogenic pathway in the shallow sediments (0-40 cm) but was also measured throughout the sediment core, confirming that methylotrophic methanogens could be well adapted to hypersaline environments. Hydrogenotrophic methanogenesis was the dominant pathway below 50 cm; however, low rates of acetoclastic methanogenesis were also present, even in sediment layers with the highest salinity, showing that these methanogens can thrive in this extreme environment. PCR-DGGE and methyl coenzyme M reductase gene libraries detected sequences affiliated with anaerobic methanotrophs (mainly ANME-1) as well as Methanococcoides methanogens. Results show that the hypersaline conditions in the centre of the Napoli mud volcano influence active biogenic methane fluxes and methanogenic/methylotrophic diversity.

  8. Laryngo-tracheo-oesophageal clefts

    PubMed Central

    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

  9. Face facts: Genes, environment, and clefts

    SciTech Connect

    Murray, J.C.

    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.

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

    ERIC Educational Resources Information Center

    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…

  11. Psychological study of cleft palate children with or without cleft lip by kinetic family drawing.

    PubMed

    Kasuya, M; Sawaki, Y; Ohno, Y; Ueda, M

    2000-12-01

    To clarify how cleft palate children with or without cleft lip perceive their family, we applied the Kinetic Family Drawing (KFD) technique to 60 cleft palate children (with or without cleft lip). The children were aged 7-9 years (in the 1-3 grade of elementary school) and attended the Department of Oral Surgery, Nagoya University Hospital, between 1990 and 1997. Controls consisted of 100 normal elementary school children of the same age. Major findings were: (1) Compared with normal children, cleft lip and palate boys and cleft palate only girls drew their self-images significantly more often in region D (lower right) and in region A (upper left), respectively. (2) Cleft palate children with or without cleft lip felt anxiety and fear toward their family, rarely viewing their homes as a restful place; this suggested insecurity. Uniquely dynamic relations were also suggested in their homes. (3) Cleft palate children with or without cleft lip often perceived their father or mother as persons easily acceptable in society. Rather remote psychological distance between parents and cleft palate children with or without cleft lip was suggested.

  12. [Cleft lip and palate in Campeche Mayas].

    PubMed

    Weiss, K M; Georges, E; Levy, B; Aguirre, A; Portilla, R J; Gaitán, C L; Leyva, E; Rodríguez, T

    1988-07-01

    It has been suggested that among American Indians, as in some genetically-related Asiatic ethnic groups, incidence of cleft lip and/or cleft palate is higher than among people of Caucasian extraction. Such hypothesis, plus growing demand for services observed at a center for the surgery of cleft lip and cleft palate in Campeche state, led the authors to undertake research among the Maya residents of that region. However, neither careful review of case histories nor field research performed in several Indian communities could confirm the hypothesis of a higher incidence among this ethnic community. PMID:3272407

  13. Improving Informed Consent for Cleft Palate Repair

    ClinicalTrials.gov

    2016-09-22

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

  14. [Cleft lip and palate in Campeche Mayas].

    PubMed

    Weiss, K M; Georges, E; Levy, B; Aguirre, A; Portilla, R J; Gaitán, C L; Leyva, E; Rodríguez, T

    1988-07-01

    It has been suggested that among American Indians, as in some genetically-related Asiatic ethnic groups, incidence of cleft lip and/or cleft palate is higher than among people of Caucasian extraction. Such hypothesis, plus growing demand for services observed at a center for the surgery of cleft lip and cleft palate in Campeche state, led the authors to undertake research among the Maya residents of that region. However, neither careful review of case histories nor field research performed in several Indian communities could confirm the hypothesis of a higher incidence among this ethnic community.

  15. Active charge state control of single NV centres in diamond by in-plane Al-Schottky junctions

    PubMed Central

    Schreyvogel, C.; Polyakov, V.; Wunderlich, R.; Meijer, J.; Nebel, C. E.

    2015-01-01

    In this paper, we demonstrate an active control of the charge state of a single nitrogen-vacancy (NV) centre by using in-plane Schottky-diode geometries with aluminium on hydrogen-terminated diamond surface. A switching between NV+, NV0 and NV− can be performed with the Al-gates which apply electric fields in the hole depletion region of the Schottky junction that induces a band bending modulation, thereby shifting the Fermi-level over NV charge transition levels. We simulated the in-plane band structure of the Schottky junction with the Software ATLAS by solving the drift-diffusion model and the Poisson-equation self-consistently. We simulated the IV-characteristics, calculated the width of the hole depletion region, the position of the Fermi-level intersection with the NV charge transition levels for different reverse bias voltages applied on the Al-gate. We can show that the field-induced band bending modulation in the depletion region causes a shifting of the Fermi-level over NV charge transition levels in such a way that the charge state of a single NV centre and thus its electrical and optical properties is tuned. In addition, the NV centre should be approx. 1–2 μm away from the Al-edge in order to be switched with moderate bias voltages. PMID:26177799

  16. αE-catenin inhibits YAP/TAZ activity to regulate signalling centre formation during tooth development

    PubMed Central

    Li, Chun-Ying; Hu, Jimmy; Lu, Hongbing; Lan, Jing; Du, Wei; Galicia, Nicole; Klein, Ophir D.

    2016-01-01

    Embryonic signalling centres are specialized clusters of non-proliferating cells that direct the development of many organs. However, the mechanisms that establish these essential structures in mammals are not well understood. Here we report, using the murine incisor as a model, that αE-catenin is essential for inhibiting nuclear YAP localization and cell proliferation. This function of αE-catenin is required for formation of the tooth signalling centre, the enamel knot (EK), which maintains dental mesenchymal condensation and epithelial invagination. EK formation depends primarily on the signalling function of αE-catenin through YAP and its homologue TAZ, as opposed to its adhesive function, and combined deletion of Yap and Taz rescues the EK defects caused by loss of αE-catenin. These findings point to a developmental mechanism by which αE-catenin restricts YAP/TAZ activity to establish a group of non-dividing and specialized cells that constitute a signalling centre. PMID:27405641

  17. Periodontal Status Among Patients With Cleft Lip (CL), Cleft Palate (CP) and Cleft Lip, Alveolus and Palate (CLAP) In Chennai, India. A Comparative Study

    PubMed Central

    John, Joseph

    2015-01-01

    Background: Long term health of the stomatognathic system as well as esthetic aspects is the therapeutic goals in patients with oro facial clefts. Aim: The aim of this study was to assess and compare the periodontal status of patients with cleft lip (CL), cleft palate (CP) and cleft lip, alveolus and palate (CLAP) reporting to a hospital in Chennai, India. Materials and Methods: The study group consisted of 80 cleft patients. Subjects were divided into three groups. Group 1: patients with cleft lip (CL), Group 2: subjects with cleft palate (CP) and Group 3: subjects with cleft lip alveolus and palate (CLAP). Community Periodontal Index for Treatment needs CPITN Index was recorded. Results: Among the 80 study subjects, 51 (63.8%) were males and 29 (36.2%) were females. Among the 26 study subjects with cleft lip, 10 (38.5%) had healthy periodontium, 4 (15.4%) had bleeding on probing and 12 (46.1%) had calculus. Mean number of sextants coded for healthy and bleeding was maximum among the subjects with cleft palate. Mean number of sextants coded for calculus was maximum among the subjects with cleft lip alveolus and palate. Prevalence of periodontal disease is high among patients with cleft lip, alveolus and palate (35%) than in Cleft lip (32.5%) and Cleft Palate (32.5%). Conclusion: Gingivitis and Calculus is predominantly high in patients with Cleft Palate and Cleft Lip respectively. PMID:25954706

  18. Dental materials for cleft palate repair.

    PubMed

    Sharif, Faiza; Ur Rehman, Ihtesham; Muhammad, Nawshad; MacNeil, Sheila

    2016-04-01

    Numerous bone and soft tissue grafting techniques are followed to repair cleft of lip and palate (CLP) defects. In addition to the gold standard surgical interventions involving the use of autogenous grafts, various allogenic and xenogenic graft materials are available for bone regeneration. In an attempt to discover minimally invasive and cost effective treatments for cleft repair, an exceptional growth in synthetic biomedical graft materials have occurred. This study gives an overview of the use of dental materials to repair cleft of lip and palate (CLP). The eligibility criteria for this review were case studies, clinical trials and retrospective studies on the use of various types of dental materials in surgical repair of cleft palate defects. Any data available on the surgical interventions to repair alveolar or palatal cleft, with natural or synthetic graft materials was included in this review. Those datasets with long term clinical follow-up results were referred to as particularly relevant. The results provide encouraging evidence in favor of dental and other related biomedical materials to fill the gaps in clefts of lip and palate. The review presents the various bones and soft tissue replacement strategies currently used, tested or explored for the repair of cleft defects. There was little available data on the use of synthetic materials in cleft repair which was a limitation of this study. In conclusion although clinical trials on the use of synthetic materials are currently underway the uses of autologous implants are the preferred treatment methods to date.

  19. Reliability of esthetic ratings of cleft impairment.

    PubMed

    Tobiasen, J M; Hiebert, J M

    1988-07-01

    The decision to seek secondary treatment for facial clefts is often the result of concerns about the esthetic acceptability of appearance. There are no standard techniques to assess cleft impairment for esthetic acceptability. Therefore, it is not possible to evaluate objectively either the need for or the benefits of treatment. If it could be shown that people agree closely on how they rate the esthetic appearance of cleft impairments that vary in severity, then esthetic measures of cleft impairment could be developed with human judgment as the yardstick. The goals of this study were: (1) to examine the reliability with which children express their preferences for cleft impairments that vary in severity, (2) to determine if other facial characteristics influence the reliability of children's preferences for cleft impairments, and (3) to evaluate if age and gender of children influence preferences for cleft impairments. Based on preratings, eight types of photographic slides were created that varied in severity of cleft impairment and global facial attractiveness. A second sample of subjects then rated the slides on the esthetic acceptability of appearance. Children ranked the photographic types consistently. They least preferred the photographic types depicting severe impairment or low facial attractiveness, or both, and most preferred faces with no impairment or moderate attractiveness, or both. There were also developmental effects in that younger children tended to have less consensus in their ratings of appearance than older children. Finally, boys displayed greater consensus than girls. PMID:3168276

  20. When Is a Linguist Not a Linguist: The Multifarious Activities and Expectations for a Linguist in an Australian Language Centre

    ERIC Educational Resources Information Center

    Truscott, Adriano

    2014-01-01

    The role of linguists employed in Aboriginal community language centres requires three considerations to be addressed by the language centres themselves, by the linguists and by the organisations that prepare them: what is required of the linguist by language centres; to what extent does the linguist's own skills, interests and ideology match what…

  1. No spreading across the southern Juan de Fuca ridge axial cleft during 1994-1996

    USGS Publications Warehouse

    Chadwell, C.D.; Hildebrand, J.A.; Spiess, Fred N.; Morton, J.L.; Normark, W.R.; Reiss, C.A.

    1999-01-01

    Direct-path acoustic measurements between seafloor transponders observed no significant extension (-10 ?? 14 mm/yr) from August 1994 to September 1996 at the southern Juan de Fuca Ridge (44??40' N and 130??20' W). The acoustic path for the measurement is a 691-m baseline straddling the axial cleft, which bounds the Pacific and Juan de Fuca plates. Given an expected full-spreading rate of 56 mm/yr, these data suggest that extension across this plate boundary occurs episodically within the narrow (~1 km) region of the axial valley floor, and that active deformation is occurring between the axial cleft and the plate interior. A cleft-parallel 714-m baseline located 300 m to the west of the cleft on the Pacific plate monitored system performance and, as expected, observed no motion (+5??7 mm/yr) between the 1994 and 1996 surveys.Direct-path acoustic measurements between seafloor transponders observed no significant extension (-10 ?? 14 mm/yr) from August 1994 to September 1996 at the southern Juan de Fuca Ridge (44??40 minutes N and 130??20 minutes W). The acoustic path for the measurement is a 691-m baseline straddling the axial cleft, which bounds the Pacific and Juan de Fuca plates. Given an expected full-spreading rate of 56 mm/yr, these data suggest that extension across this plate boundary occurs episodically within the narrow (approx. 1 km) region of the axial valley floor, and that active deformation is occurring between the axial cleft and the plate interior. A cleft-parallel 714-m baseline located 300 m to the west of the cleft on the Pacific plate monitored system performance and, as expected, observed no motion (+5 ?? 7 mm/yr) between the 1994 and 1996 surveys.

  2. Dynamic protein conformations preferentially drive energy transfer along the active chain of the photosystem II reaction centre

    NASA Astrophysics Data System (ADS)

    Zhang, Lu; Silva, Daniel-Adriano; Zhang, Houdao; Yue, Alexander; Yan, Yijing; Huang, Xuhui

    2014-06-01

    One longstanding puzzle concerning photosystem II, a core component of photosynthesis, is that only one of the two symmetric branches in its reaction centre is active in electron transfer. To investigate the effect of the photosystem II environment on the preferential selection of the energy transfer pathway (a prerequisite for electron transfer), we have constructed an exciton model via extensive molecular dynamics simulations and quantum mechanics/molecular mechanics calculations based on a recent X-ray structure. Our results suggest that it is essential to take into account an ensemble of protein conformations to accurately compute the site energies. We identify the cofactor CLA606 of active chain as the most probable site for the energy excitation. We further pinpoint a number of charged protein residues that collectively lower the CLA606 site energy. Our work provides insights into the understanding of molecular mechanisms of the core machinery of the green-plant photosynthesis.

  3. Dynamic protein conformations preferentially drive energy transfer along the active chain of the photosystem II reaction centre.

    PubMed

    Zhang, Lu; Silva, Daniel-Adriano; Zhang, Houdao; Yue, Alexander; Yan, YiJing; Huang, Xuhui

    2014-01-01

    One longstanding puzzle concerning photosystem II, a core component of photosynthesis, is that only one of the two symmetric branches in its reaction centre is active in electron transfer. To investigate the effect of the photosystem II environment on the preferential selection of the energy transfer pathway (a prerequisite for electron transfer), we have constructed an exciton model via extensive molecular dynamics simulations and quantum mechanics/molecular mechanics calculations based on a recent X-ray structure. Our results suggest that it is essential to take into account an ensemble of protein conformations to accurately compute the site energies. We identify the cofactor CLA606 of active chain as the most probable site for the energy excitation. We further pinpoint a number of charged protein residues that collectively lower the CLA606 site energy. Our work provides insights into the understanding of molecular mechanisms of the core machinery of the green-plant photosynthesis. PMID:24954746

  4. Genetics of Nonsyndromic Orofacial Clefts

    PubMed Central

    Rahimov, Fedik; Jugessur, Astanand; Murray, Jeffrey C.

    2011-01-01

    With an average worldwide prevalence of approximately 1.2/1000 live births, orofacial clefts are the most common craniofacial birth defects in humans. Like other complex disorders, these birth defects are thought to result from the complex interplay of multiple genes and environmental factors. Significant progress in the identification of underlying genes and pathways has benefited from large populations available for study, increased international collaboration, rapid advances in genotyping technology, and major improvements in analytic approaches. Here we review recent advances in genetic epidemiological approaches to complex traits and their applications to studies of nonsyndromic orofacial clefts. Our main aim is to bring together a discussion of new and previously identified candidate genes to create a more cohesive picture of interacting pathways that shape the human craniofacial region. In future directions, we highlight the need to search for copy number variants that affect gene dosage and rare variants that are possibly associated with a higher disease penetrance. In addition, sequencing of protein-coding regions in candidate genes and screening for genetic variation in non-coding regulatory elements will help advance this important area of research. PMID:21545302

  5. Implementing the Brazilian Database on Orofacial Clefts

    PubMed Central

    Monlleó, Isabella Lopes; Fontes, Marshall Ítalo Barros; Ribeiro, Erlane Marques; de Souza, Josiane; Leal, Gabriela Ferraz; Félix, Têmis Maria; Fett-Conte, Agnes Cristina; Bueno, Bruna Henrique; Magna, Luis Alberto; Mossey, Peter Anthony; Gil-da Silva-Lopes, Vera

    2013-01-01

    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. PMID:23577250

  6. Transillumination of the occult submucous cleft palate.

    PubMed

    Caterson, E J; Tsai, David M; Cauley, Ryan; Dowdall, Jayme R; Tracy, Lauren E

    2014-11-01

    Occult submucous cleft palate is a congenital deformity characterized by deficient union of the muscles that normally cross the velum and aid in elevation of the soft palate. Despite this insufficient muscle coverage, occult submucous cleft palate by definition lacks clear external anatomic landmarks. This absence of anatomic signs makes diagnosis of occult submucous cleft less obvious, more dependent on ancillary tests, and potentially missed entirely. Current diagnostic methodologies are limited and often are unrevealing in the presurgical patient; however, a missed diagnosis of occult submucous cleft palate can result in velopharyngeal insufficiency and major functional impairment in patients after surgery on the oropharynx. By accurately and easily diagnosing occult submucous cleft palate, it is possible to defer or modify pharyngeal surgical intervention that may further impair velopharyngeal function in susceptible patients. In this report, we introduce transillumination of the soft palate using a transnasal or transoral flexible endoscope as an inexpensive and simple technique for identification of submucous cleft palate. The use of transillumination of an occult submucous cleft palate is illustrated in a patient case and is compared to other current diagnostic methodologies.

  7. Managing Data and Facilitating Science: A spectrum of activities in the Centre for Environmental Data Archival. (Invited)

    NASA Astrophysics Data System (ADS)

    Lawrence, B.; Bennett, V.; Callaghan, S.; Juckes, M. N.; Pepler, S.

    2013-12-01

    The UK Centre for Environmental Data Archival (CEDA) hosts a number of formal data centres, including the British Atmospheric Data Centre (BADC), and is a partner in a range of national and international data federations, including the InfraStructure for the European Network for Earth system Simulation, the Earth System Grid Federation, and the distributed IPCC Data Distribution Centres. The mission of CEDA is to formally curate data from, and facilitate the doing of, environmental science. The twin aims are symbiotic: data curation helps facilitate science, and facilitating science helps with data curation. Here we cover how CEDA delivers this strategy by established internal processes supplemented by short-term projects, supported by staff with a range of roles. We show how CEDA adds value to data in the curated archive, and how it supports science, and show examples of the aforementioned symbiosis. We begin by discussing curation: CEDA has the formal responsibility for curating the data products of atmospheric science and earth observation research funded by the UK Natural Environment Research Council (NERC). However, curation is not just about the provider community, the consumer communities matter too, and the consumers of these data cross the boundaries of science, including engineers, medics, as well as the gamut of the environmental sciences. There is a small, and growing cohort of non-science users. For both producers and consumers of data, information about data is crucial, and a range of CEDA staff have long worked on tools and techniques for creating, managing, and delivering metadata (as well as data). CEDA "science support" staff work with scientists to help them prepare and document data for curation. As one of a spectrum of activities, CEDA has worked on data Publication as a method of both adding value to some data, and rewarding the effort put into the production of quality datasets. As such, we see this activity as both a curation and a

  8. Surgery for cleft palate and velopharyngeal dysfunction.

    PubMed

    Pearson, Gregory D; Kirschner, Richard E

    2011-05-01

    Cleft palate is a common congenital anomaly that, if left untreated, results in subsequent velopharyngeal dysfunction. After surgical repair of the palatal cleft, patients must be monitored clinically for any postoperative velopharyngeal dysfunction. If this sequela develops, patients must be evaluated in a multidisciplinary manner with diagnostic procedures performed and individualized care plans made prior to embarking upon surgery for velopharyngeal dysfunction. This article discusses surgical management of patients with cleft palate as well as the proper workup and management of postoperative velopharyngeal dysfunction.

  9. Actors of the main activity in large complex centres during the 23 solar cycle maximum

    NASA Astrophysics Data System (ADS)

    Schmieder, B.; Démoulin, P.; Pariat, E.; Török, T.; Molodij, G.; Mandrini, C. H.; Dasso, S.; Chandra, R.; Uddin, W.; Kumar, P.; Manoharan, P. K.; Venkatakrishnan, P.; Srivastava, N.

    2011-06-01

    During the maximum of Solar Cycle 23, large active regions had a long life, spanning several solar rotations, and produced large numbers of X-class flares and CMEs, some of them associated to magnetic clouds (MCs). This is the case for the Halloween active regions in 2003. The most geoeffective MC of the cycle (Dst = -457) had its source during the disk passage of one of these active regions (NOAA 10501) on 18 November 2003. Such an activity was presumably due to continuous emerging magnetic flux that was observed during this passage. Moreover, the region exhibited a complex topology with multiple domains of different magnetic helicities. The complexity was observed to reach such unprecedented levels that a detailed multi-wavelength analysis is necessary to precisely identify the solar sources of CMEs and MCs. Magnetic clouds are identified using in situ measurements and interplanetary scintillation (IPS) data. Results from these two different sets of data are also compared.

  10. Use of Biphasic Continuous Positive Airway Pressure in Premature Infant with Cleft Lip–Cleft Palate

    PubMed Central

    George, Lovya; Jain, Sunil K.

    2015-01-01

    Preterm infants (PIs) often require respiratory support due to surfactant deficiency. Early weaning from mechanical ventilation to noninvasive respiratory support decreases ventilation-associated irreversible lung damage. This wean is particularly challenging in PIs with cleft lip and cleft palate due to anatomical difficulties encountered in maintaining an adequate seal for positive pressure ventilation. PI with a cleft lip and palate often fail noninvasive respiratory support and require continued intubation and mechanical ventilation. We are presenting the first case report of a PI with cleft lip and palate who was managed by biphasic nasal continuous positive airway pressure. PMID:26495158

  11. N-glycosylation affects substrate specificity of chicory fructan 1-exohydrolase: evidence for the presence of an inulin binding cleft.

    PubMed

    Le Roy, Katrien; Verhaest, Maureen; Rabijns, Anja; Clerens, Stefan; Van Laere, André; Van den Ende, Wim

    2007-01-01

    Recently, the three-dimensional structure of chicory (Cichorium intybus) fructan 1-exohydrolase (1-FEH IIa) in complex with its preferential substrate, 1-kestose, was determined. Unfortunately, no such data could be generated with high degree of polymerization (DP) inulin, despite several soaking and cocrystallization attempts. Here, site-directed mutagenesis data are presented, supporting the presence of an inulin-binding cleft between the N- and C-terminal domains of 1-FEH IIa. In general, enzymes that are unable to degrade high DP inulins contain an N-glycosylation site probably blocking the cleft. By contrast, inulin-degrading enzymes have an open cleft configuration. An 1-FEH IIa P294N mutant, introducing an N-glycosylation site near the cleft, showed highly decreased activity against higher DP inulin. The introduction of a glycosyl chain most probably blocks the cleft and prevents inulin binding and degradation. Besides cell wall invertases, fructan 6-exohydrolases (6-FEHs) also contain a glycosyl chain most probably blocking the cleft. Removal of this glycosyl chain by site-directed mutagenesis in Arabidopsis thaliana cell wall invertase 1 and Beta vulgaris 6-FEH resulted in a strong decrease of enzymatic activities of the mutant proteins. By analogy, glycosylation of 1-FEH IIa affected overall enzyme activity. These data strongly suggest that the presence or absence of a glycosyl chain in the cleft is important for the enzyme's stability and optimal conformation.

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

    PubMed Central

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

    2016-01-01

    Background Individuals with non syndromic 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. Material and Methods 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. Results 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, p<0.0001), bilateral complete CLP (p=0.0002) and bilateral incomplete CLP (p< 0.0001) were more affected by tooth agenesis than individuals with other cleft types. The maxillary lateral incisors were the most affected teeth (p<0.0001). Conclusions The present study revealed a high frequency of dental 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. Key words:Nonsyndromic cleft lip with or without palate, dental anomaly, tooth agenesis, microdontia. PMID:26615505

  13. The stability and activity of human neuroserpin are modulated by a salt bridge that stabilises the reactive centre loop.

    PubMed

    Noto, Rosina; Randazzo, Loredana; Raccosta, Samuele; Caccia, Sonia; Moriconi, Claudia; Miranda, Elena; Martorana, Vincenzo; Manno, Mauro

    2015-01-01

    Neuroserpin (NS) is an inhibitory protein belonging to the serpin family and involved in several pathologies, including the dementia Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB), a genetic neurodegenerative disease caused by accumulation of NS polymers. Our Molecular Dynamics simulations revealed the formation of a persistent salt bridge between Glu289 on strand s2C and Arg362 on the Reactive Centre Loop (RCL), a region important for the inhibitory activity of NS. Here, we validated this structural feature by simulating the Glu289Ala mutant, where the salt bridge is not present. Further, MD predictions were tested in vitro by purifying recombinant Glu289Ala NS from E. coli. The thermal and chemical stability along with the polymerisation propensity of both Wild Type and Glu289Ala NS were characterised by circular dichroism, emission spectroscopy and non-denaturant gel electrophoresis, respectively. The activity of both variants against the main target protease, tissue-type plasminogen activator (tPA), was assessed by SDS-PAGE and chromogenic kinetic assay. Our results showed that deletion of the salt bridge leads to a moderate but clear reduction of the overall protein stability and activity. PMID:26329378

  14. The stability and activity of human neuroserpin are modulated by a salt bridge that stabilises the reactive centre loop.

    PubMed

    Noto, Rosina; Randazzo, Loredana; Raccosta, Samuele; Caccia, Sonia; Moriconi, Claudia; Miranda, Elena; Martorana, Vincenzo; Manno, Mauro

    2015-01-01

    Neuroserpin (NS) is an inhibitory protein belonging to the serpin family and involved in several pathologies, including the dementia Familial Encephalopathy with Neuroserpin Inclusion Bodies (FENIB), a genetic neurodegenerative disease caused by accumulation of NS polymers. Our Molecular Dynamics simulations revealed the formation of a persistent salt bridge between Glu289 on strand s2C and Arg362 on the Reactive Centre Loop (RCL), a region important for the inhibitory activity of NS. Here, we validated this structural feature by simulating the Glu289Ala mutant, where the salt bridge is not present. Further, MD predictions were tested in vitro by purifying recombinant Glu289Ala NS from E. coli. The thermal and chemical stability along with the polymerisation propensity of both Wild Type and Glu289Ala NS were characterised by circular dichroism, emission spectroscopy and non-denaturant gel electrophoresis, respectively. The activity of both variants against the main target protease, tissue-type plasminogen activator (tPA), was assessed by SDS-PAGE and chromogenic kinetic assay. Our results showed that deletion of the salt bridge leads to a moderate but clear reduction of the overall protein stability and activity.

  15. Technique in Cleft Rhinoplasty: The Foundation Graft.

    PubMed

    Gassner, Holger G; Schwan, Franziska; Haubner, Frank; Suárez, Gustavo A; Vielsmeier, Veronika

    2016-04-01

    Secondary cleft rhinoplasty represents a particular surgical challenge. The authors have identified the deficit in skeletal projection of the cleft-sided piriform rim as an important contributor to the pathology. A graft is described to augment the piriform crest on the cleft side. This foundation graft is suture fixated to the piriform crest after complete release of all soft tissue attachments to the alar base. The foundation graft is articulated with a long alar strut graft, which allows for powerful projection of the cleft-sided nasal tip. An advancement flap of vestibular skin is described to correct the vestibular stenosis. A transplant of diced cartilage in fascia is added to augment maxillary soft tissue volume. Subjective and objective measures of form and function are presented in a retrospective series of five cases, illustrating the efficacy of the techniques described. PMID:27097143

  16. Cleft Lip and Palate (For Parents)

    MedlinePlus

    ... and breathing, overbites/underbites, and appearance. Dental and Orthodontic Treatment Maintaining healthy teeth and preventing cavities is ... Kids with cleft lip and palate may begin orthodontic treatment as early as 6 years of age. ...

  17. Midline cervical cleft. A case report.

    PubMed

    Ikuzawa, M; Matsumoto, K; Amino, K; Sakuda, M

    1992-10-01

    A case of incomplete midline cervical cleft of the upper neck is reported. It showed histological resemblance to a mature teratoma with three different germ-cell components, including cartilage, striated muscles, small salivary glands, and nerves.

  18. Advanced imaging of osseous maxillary clefts.

    PubMed

    Boyne, P J; Christiansen, E L; Thompson, J R

    1993-01-01

    A computed tomographic (CT) technique to establish precise two-dimensional (2-D) and three-dimensional (3-D) images of the osseous defects of cleft palates is presented and illustrated by two case studies. Prospective soft tissue algorithms and bone detail imaging was made possible by a retrospective program, a specific software program and vertical reformatting technique leading to 3-D image reconstruction. The two cases illustrate the flexibility of the CT program in accurately providing morphometric and bone density data on the location and size of the osseous defects involved in the cleft. Not every cleft palate patient is a candidate for the procedures outlined; however, the diagnosis of and treatment planning for patients presenting with bilateral or extensive osseous clefting can be more accurate.

  19. [Laser navigation guided cleft lip repair].

    PubMed

    Bing, Shi

    2016-06-01

    A new method using the ideal mid-facial line as the navigating reference was introduced to improve the outcome of cleft lip repair. Using the verticle coordinate crossing the middle point of the intercanthus line, surgeons could observe and correct the distortion of the fine structures in labial-nasal area. This laser projecting mid-facial-line navigation was repeatable, while not interfere the operating. In conclusion, generalizing laser navigation is a valuable supplementary for cleft lip repair. PMID:27526442

  20. IRF6 mutations in mixed isolated familial clefting.

    PubMed

    Rutledge, Katherine D; Barger, Christina; Grant, John H; Robin, Nathaniel H

    2010-12-01

    Mutations in the interferon regulatory factor 6 (IRF6) gene are known to cause van der Woude syndrome (VWS), a common syndromic form of oro-facial clefting characterized by the familial occurrence of mixed clefting (cleft lip with or without a cleft palate and cleft palate alone in the same family) and lower lip pits. As lip pits are not present in all cases of VWS, IRF6 mutations can cause a phenotype identical to non-syndromic clefting. However, recent studies failed to identify IRF6 mutations in sporadic and familial non-syndromic clefting, concluding that testing for IRF6 was not warranted for sporadic or familial non-syndromic clefting. Here we report on two families that demonstrate familial mixed clefting in which mutations in IRF6 were identified, suggesting that IRF6 testing does have a role in familial, non-syndromic OFC. PMID:21082654

  1. Passive Smoke Exposure as a Risk Factor for Oral Clefts-A Large International Population-Based Study.

    PubMed

    Kummet, Colleen M; Moreno, Lina M; Wilcox, Allen J; Romitti, Paul A; DeRoo, Lisa A; Munger, Ronald G; Lie, Rolv T; Wehby, George L

    2016-05-01

    Maternal cigarette smoking is a well-established risk factor for oral clefts. Evidence is less clear for passive (secondhand) smoke exposure. We combined individual-level data from 4 population-based studies (the Norway Facial Clefts Study, 1996-2001; the Utah Child and Family Health Study, 1995-2004; the Norwegian Mother and Child Cohort Study, 1999-2009; and the National Birth Defects Prevention Study (United States), 1999-2007) to obtain 4,508 cleft cases and 9,626 controls. We categorized first-trimester passive and active smoke exposure. Multivariable logistic models adjusted for possible confounders (maternal alcohol consumption, use of folic acid supplements, age, body size, education, and employment, plus study fixed effects). Children whose mothers actively smoked had an increased risk of oral clefts (odds ratio (OR) = 1.27, 95% confidence interval (CI): 1.11, 1.46). Children of passively exposed nonsmoking mothers also had an increased risk (OR = 1.14, 95% CI: 1.02, 1.27). Cleft risk was further elevated among babies of smoking mothers who were exposed to passive smoke (OR = 1.51, 95% CI: 1.35, 1.70). Using a large pooled data set, we found a modest association between first-trimester passive smoking and oral clefts that was consistent across populations, diverse study designs, and cleft subtypes. While this association may reflect subtle confounding or bias, we cannot rule out the possibility that passive smoke exposure during pregnancy is teratogenic. PMID:27045073

  2. Passive Smoke Exposure as a Risk Factor for Oral Clefts-A Large International Population-Based Study.

    PubMed

    Kummet, Colleen M; Moreno, Lina M; Wilcox, Allen J; Romitti, Paul A; DeRoo, Lisa A; Munger, Ronald G; Lie, Rolv T; Wehby, George L

    2016-05-01

    Maternal cigarette smoking is a well-established risk factor for oral clefts. Evidence is less clear for passive (secondhand) smoke exposure. We combined individual-level data from 4 population-based studies (the Norway Facial Clefts Study, 1996-2001; the Utah Child and Family Health Study, 1995-2004; the Norwegian Mother and Child Cohort Study, 1999-2009; and the National Birth Defects Prevention Study (United States), 1999-2007) to obtain 4,508 cleft cases and 9,626 controls. We categorized first-trimester passive and active smoke exposure. Multivariable logistic models adjusted for possible confounders (maternal alcohol consumption, use of folic acid supplements, age, body size, education, and employment, plus study fixed effects). Children whose mothers actively smoked had an increased risk of oral clefts (odds ratio (OR) = 1.27, 95% confidence interval (CI): 1.11, 1.46). Children of passively exposed nonsmoking mothers also had an increased risk (OR = 1.14, 95% CI: 1.02, 1.27). Cleft risk was further elevated among babies of smoking mothers who were exposed to passive smoke (OR = 1.51, 95% CI: 1.35, 1.70). Using a large pooled data set, we found a modest association between first-trimester passive smoking and oral clefts that was consistent across populations, diverse study designs, and cleft subtypes. While this association may reflect subtle confounding or bias, we cannot rule out the possibility that passive smoke exposure during pregnancy is teratogenic.

  3. Topside optical view of the dayside cleft aurora

    NASA Technical Reports Server (NTRS)

    Shepherd, G. G.; Thirkettle, F. W.; Anger, C. D.

    1976-01-01

    Photometers on the ISIS-II spacecraft provide a view of the atomic oxygen 5577-A and 6300-A emissions and the N2(+) 3914-A emission detected as dayside aurora in the magnetospheric cleft region. The 6300-A emission forms a continuous and permanent band across the noon sector, at about 78 deg invariant latitude, with a defined region of maximum intensity that is never less than 2 kR (uncorrected for albedo) and is centered near magnetic noon. There are significant differences in the intensity patterns on either side of noon and their responses to geomagnetic activity. Discrete 3914-A auroral forms appear within this region at preferred locations that cannot be precisely specified but which tend to the poleward edge of the 6300-A emission in the evening and the equatorward edge in the morning, where the difference between the two emissions is greatest. It is concluded that the discrete auroras observed by all-sky cameras in the day sector follow the 6300-A emission through the cleft region, though a definite cleft boundary is not defined.

  4. Vision ergonomics at recycling centres.

    PubMed

    Hemphälä, Hillevi; Kihlstedt, Annika; Eklund, Jörgen

    2010-05-01

    All municipalities in Sweden offer their inhabitants a service for disposing of large-size and hazardous waste at local recycling centres. Opening hours at these centres include hours of darkness. The aims of this study were to 1) describe user and employee experiences of lighting and signs at Swedish recycling centres, 2) measure and assess the lighting system at the two recently built recycling centres in Linköping and to assess the legibility and visibility of the signs used and 3) propose recommendations regarding lighting and signs for recycling centres. Interviews and questionnaires were used to assess experiences of employees and users, and light measurements were performed. By observing users, activities with different visual demands at different areas within the recycling centres were identified. Based on the literature, standards and stakeholder experiences, recommendations regarding lighting systems and sign design, illuminance, luminance and uniformity are proposed for recycling centres.

  5. Southeast Asian Ministers of Education Organization, Regional English Language Centre, Singapore: Program of Activities, 1972-1976.

    ERIC Educational Resources Information Center

    Regional English Center (Singapore).

    This brochure describes the work of the Regional English Language Centre (RELC), located in Singapore and established by the Southeast Asian Ministers of Education Organization (SEAMEO); Indonesia, Khmer Republic, Laos, Malaysia, the Philippines, Singapore, Thailand, and Vietnam are the member countries. The fundamental purpose of the Centre is…

  6. The p-wave upper mantle structure beneath an active spreading centre - The Gulf of California

    NASA Technical Reports Server (NTRS)

    Walck, M. C.

    1984-01-01

    Over 1400 seismograms of earthquakes in Mexico are analyzed and data sets for the travel time, apparent phase velocity, and relative amplitude information are utilized to produce a tightly constrained, detailed model for depths to 900 km beneath an active oceanic ridge region, the Gulf of California. The data are combined by first inverting the travel times, perturbing that model to fit the p-delta data, and then performing trial and error synthetic seismogram modelling to fit the short-period waveforms. The final model satisfies all three data sets. The ridge model is similar to existing upper mantle models for shield, tectonic-continental, and arc-trench regimes below 400 km, but differs significantly in the upper 350 km. Ridge model velocities are very low in this depth range; the model 'catches up' with the others with a very large velocity gradient from 225 to 390 km.

  7. Ruthenium-modified zinc oxide, a highly active vis-photocatalyst: the nature and reactivity of photoactive centres.

    PubMed

    Bloh, Jonathan Z; Dillert, Ralf; Bahnemann, Detlef W

    2014-03-28

    We recently reported a highly active photocatalyst, ruthenium-modified zinc oxide, which was found to be able to utilise the red part of the visible light spectrum for photocatalytic reactions [Bloh et al., Environ. Sci. Pollut. Res., 2012, 19, 3688-3695]. However, the origin and mechanism of the observed activity as well as the nature of the photoactive centres are still unknown. Herein, we expand on that by reporting a series of experiments specifically designed to unravel the mechanism of the visible light induced photocatalytic reactions. The absolute potentials of the valence and the conduction band edge are identified by the combined use of electrochemical impedance and UV-vis diffuse reflectance spectroscopy. The conduction band electron and the valence band hole activity are assessed through a novel approach tracing their signature oxidative species, i.e., hydrogen peroxide and hydroxyl radicals, respectively. Oxygen reduction currents are measured at different potentials to investigate the role of molecular oxygen as an electron scavenger as well as the underlying reduction pathways. Additionally, the photocatalytic activity of the samples is verified using another (ISO standard) degradation test, the gas-phase oxidation of nitric oxide. The experimental results reveal that the employed synthetic route yields a unique mixture of ruthenium(VI)-doped zinc oxide and ruthenium(VI) oxide particles with both forms of the ruthenium playing their own independent role in the enhancement of the photocatalytic activity. The ruthenium ions acting as dopants enable a better charge separation as well as the absorption of red light resulting in the direct promotion of electrons from the Ru(VI)-species to the conduction band. Both, the conduction band electrons and the thus formed Ru(VII) subsequently participate in the degradation of the pollutant molecules. The ruthenium dioxide particles, on the other hand, act as catalysts increasing the efficiency of the reaction by

  8. Galactic Center gamma-ray ``excess'' from an active past of the Galactic Centre?

    NASA Astrophysics Data System (ADS)

    Petrović, Jovana; Dario Serpico, Pasquale; Zaharijaš, Gabrijela

    2014-10-01

    Several groups have recently claimed evidence for an unaccounted gamma-ray excess over the diffuse backgrounds at few GeV in the Fermi-LAT data in a region around the Galactic Center, consistent with a dark matter annihilation origin. We demonstrate that the main spectral and angular features of this excess can be reproduced if they are mostly due to inverse Compton emission from high-energy electrons injected in a burst event of ~ 1052÷1053 erg roughly Script O(106) years ago. We consider this example as a proof of principle that time-dependent phenomena need to be understood and accounted for—together with detailed diffuse foregrounds and unaccounted ``steady state'' astrophysical sources—before any robust inference can be made about dark matter signals at the Galactic Center. In addition, we point out that the timescale suggested by our study, which controls both the energy cutoff and the angular extension of the signal, intriguingly matches (together with the energy budget) what is indirectly inferred by other evidences suggesting a very active Galactic Center in the past, for instance related to intense star formation and accretion phenomena.

  9. Galactic Center gamma-ray ''excess'' from an active past of the Galactic Centre?

    SciTech Connect

    Petrović, Jovana; Serpico, Pasquale Dario; Zaharijaš, Gabrijela E-mail: serpico@lapth.cnrs.fr

    2014-10-01

    Several groups have recently claimed evidence for an unaccounted gamma-ray excess over the diffuse backgrounds at few GeV in the Fermi-LAT data in a region around the Galactic Center, consistent with a dark matter annihilation origin. We demonstrate that the main spectral and angular features of this excess can be reproduced if they are mostly due to inverse Compton emission from high-energy electrons injected in a burst event of ∼ 10{sup 52}÷10{sup 53} erg roughly O(10{sup 6}) years ago. We consider this example as a proof of principle that time-dependent phenomena need to be understood and accounted for—together with detailed diffuse foregrounds and unaccounted ''steady state'' astrophysical sources—before any robust inference can be made about dark matter signals at the Galactic Center. In addition, we point out that the timescale suggested by our study, which controls both the energy cutoff and the angular extension of the signal, intriguingly matches (together with the energy budget) what is indirectly inferred by other evidences suggesting a very active Galactic Center in the past, for instance related to intense star formation and accretion phenomena.

  10. Ocular Manifestations of Oblique Facial Clefts

    PubMed Central

    Ortube, Maria Carolina; Dipple, Katrina; Setoguchi, Yoshio; Kawamoto, Henry K.; Demer, Joseph L.

    2014-01-01

    Introduction In the Tessier classification, craniofacial clefts are numbered from 0 to 14 and extend along constant axes through the eyebrows, eyelids, maxilla, nostrils, and the lips. We studied a patient with bilateral cleft 10 associated with ocular abnormalities. Method Clinical report with orbital and cranial computed tomography. Results After pregnancy complicated by oligohydramnios, digoxin, and lisinopril exposure, a boy was born with facial and ocular dysmorphism. Examination at age 26 months showed bilateral epibulbar dermoids, covering half the corneal surface, and unilateral morning glory anomaly of the optic nerve. Ductions of the right eye were normal, but the left eye had severely impaired ductions in all directions, left hypotropia, and esotropia. Under anesthesia, the left eye could not be rotated freely in any direction. Bilateral Tessier cleft number 10 was implicated by the presence of colobomata of the middle third of the upper eyelids and eyebrows. As the cleft continued into the hairline, there was marked anterior scalp alopecia. Computed x-ray tomography showed a left middle cranial fossa arachnoid cyst and calcification of the reflected tendon of the superior oblique muscle, trochlea, and underlying sclera, with downward and lateral globe displacement. Discussion Tessier 10 clefts are very rare and usually associated with encephalocele. Bilateral 10 clefts have not been reported previously. In this case, there was coexisting unilateral morning glory anomaly and arachnoid cyst of the left middle cranial fossa but no encephalocele. Conclusions Bilateral Tessier facial cleft 10 may be associated with alopecia, morning glory anomaly, epibulbar dermoids, arachnoid cyst, and restrictive strabismus. PMID:20856062

  11. European multicentre study to define disease activity criteria for systemic sclerosis.* I. Clinical and epidemiological features of 290 patients from 19 centres

    PubMed Central

    Della, R; Valentini, G; Bombardieri, S; Bencivelli, W; Silman, A; D'Angelo, S; Cerinic, M; Belch, J; Black, C; Becvar, R; Bruhlman, P; Cozzi, F; Czirjak, L; Drosos, A; Dziankowska, B; Ferri, C; Gabrielli, A; Giacomelli, R; Hayem, G; Inanc, M; McHugh, N; Nielsen, H; Scorza, R; Tirri, E; van den Hoogen, F H J; Vlachoyiannopoulo..., P

    2001-01-01

    OBJECTIVE—To investigate the existence of differences among European referral centres for systemic sclerosis (SSc) in the pattern of attendance and referral and in the clinical and therapeutical approaches.
METHODS—In 1995 the European Scleroderma Study Group initiated a multicentre prospective one year study whose aim was to define the disease activity criteria in SSc. During the study period each participating European centre was asked to enrol consecutive patients satisfying American College of Rheumatology criteria for SSc and to fill out for each of them a standardised clinical chart. Patients from various centres were compared and differences in epidemiological, clinical, and therapeutical aspects were analysed.
RESULTS—Nineteen different medical research centres consecutively recruited 290 patients. The patients could be divided into two subgroups: 173 with the limited (lSSc) and 117 with the diffuse (dSSc) form of the disease. The clinical and serological findings for the series of 290 patients seemed to be similar to data previously reported. However, when the data were analysed to elicit any differences between the participating centres, a high degree of variability emerged, in both epidemiological and clinical features and in the diagnostic and therapeutic approaches to the disease.
CONCLUSIONS—The clinical approach to SSc, not only in different countries but also in different centres within the same country, is not yet standardised. To overcome this problem, it will be necessary for the scientific community to draw up a standardised procedure for the management of patients with SSc. This would provide a common research tool for different centres engaged in research on this complex disease.

 PMID:11350847

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

    MedlinePlus

    ... throat, hearing, dentistry, speech, oral surgery, nursing, and psychology among others. You can obtain the names of ... of the cleft team, particularly the psychologist and social worker. Interaction with other adults with clefts, through ...

  13. The GSO Data Centre

    NASA Astrophysics Data System (ADS)

    Paletou, F.; Glorian, J.-M.; Génot, V.; Rouillard, A.; Petit, P.; Palacios, A.; Caux, E.; Wakelam, V.

    2015-12-01

    Hereafter we describe the activities of the Grand Sud-Ouest Data Centre operated for INSU (CNRS) by the OMP--IRAP and the Université Paul Sabatier in Toulouse, in a collaboration with the OASU--LAB in Bordeaux and OREME--LUPM in Montpellier.

  14. Easy method of centralized fixation of endotracheal tube in cleft lip and palate surgery.

    PubMed

    Bajaj, S P; Chavan, Navdeep; Sharma, Arun

    2012-01-01

    As we all know that fixation of endotracheal tube is very important aspect in cleft palate and maxillofacial surgery. During cleft palate and oral surgery various methods of fixation and modified tubes are deviced to make surgery safer and ergonomically better. Our method consist of 3 point fixation of tube (RAE) with dynaplast, which is freely available, cheap and good Adhesive quality. Dynaplast divided into 3 phalanges (one central and two lateral) and one portion undivided as central limb. This undivided central limb is fixed in centre of chin and other 3 phalanges wrap around tube on either side. This fixation totally takes away any lateral movements of tube. This method can be used with any tube (RAE/ Oxford/Flexometallic). Our method is described for its simplicity, ease and convinence and result which impart universally similar results with all different members of our anesthetist team.

  15. Correlation of vermilion symmetry to alveolar cleft defect in unilateral cleft lip repair.

    PubMed

    Bonanthaya, K; Rao, D D; Shetty, P; Uguru, C

    2016-06-01

    Asymmetry is a major problem in repaired unilateral cleft lip (UCL). One of the important manifestations of this is the asymmetry of the vermilion. The aim of this study was to correlate the severity of the asymmetry in the vermilion to the size of the alveolar defect. Twenty patients aged between 6 and 18 months with complete unilateral cleft lip, alveolus, and palate were included. An impression of each patient's alveolus at the time of cheiloplasty was taken using silicon rubber base material, and a study cast was prepared. The width of the cleft alveolus was measured on these casts using a transparent grid. Frontal photographs were taken at 6 months postoperative and vermilion symmetry was measured as the ratio between the cleft and non-cleft sides. The results obtained in this study showed a direct correlation between the size of the alveolar defect and the vermilion symmetry in repaired UCL. The wider the cleft alveolus and greater the antero-posterior discrepancy, the greater is the vermilion asymmetry. The asymmetry of the vermilion in UCL after repair is directly dependent on the size of the alveolar defect. The alveolar discrepancy causes 'in-rolling' of the vermilion on the cleft side and affects the vermilion symmetry.

  16. Spectrographic measures of the speech of young children with cleft lip and cleft palate.

    PubMed

    Casal, C; Domínguez, C; Fernández, A; Sarget, R; Martínez-Celdrán, E; Sentís-Vilalta, J; Gay-Escoda, C

    2002-01-01

    Twenty-two consecutive children with repaired cleft lip and/or palate [isolated cleft lip (CL) 6, isolated cleft palate (CP) 7, unilateral cleft lip and palate (UCLP) 7, and bilateral cleft lip and palate 2] with a mean age of 27 months underwent spectrographic measures of tape-recorded speech (DSP Sona-Graph digital unit). Controls were 22 age- and sex-matched noncleft children. Data analyzed included (1) the Spanish vocalic variables [a, i, u, e, o]: first formant, second formant, duration, and context; (2) obstruent variables [p, t, k]: burst, voice onset time, and duration, and (3) nasal variables [m]: first formant, second formant, and duration. Statistically significant differences were observed between the CL group and the control group in the first formant of [e] and in the increase of the frequency of the [t] burst. Comparison between UCLP and controls showed differences in the second formant of [a], in the first formant of [o], and in the second formant of [o]. These results suggest a small but significant influence of either the cleft lip or its repair on lip rounding for [o] and [u]. In addition, tongue position differences were most likely responsible for the differences seen with [a] and [e]. Spectrographic differences in the current patients did not contribute to meaningful differences in speech sound development. Individualized care (orthodontics, surgery, speech therapy) in children with cleft lip and/or palate attended at specialized craniofacial units contributes to normalization of speech development. PMID:12378036

  17. Risk of Oral Clefts (Cleft Lip and/or Palate) in Infants Born to Mothers Taking Topamax (Topiramate)

    MedlinePlus

    ... topiramate labels are being updated with the new information describing the increased risk of oral clefts. Q8. Does FDA have post marketing adverse event reports of oral clefts with topiramate? ...

  18. Evolution of my philosophy in the treatment of unilateral cleft lip and palate.

    PubMed

    Brusati, Roberto

    2016-08-01

    At the end of 50-year-long clinical activity, the evolution of my approach to the treatment of unilateral cleft of the lip and palate is discussed. I had several teachers in this field (Rusconi, Reherman, Perko, Delaire, Talmant, Sommerlad and others) and I introduced in my approach what I considered to be improvements from all of them. My current protocol is related to the anatomy of the cleft: for wide clefts a two-stage protocol is applied (1° step: soft palate and lip and nose repair; 2° step: hard palate repair with gingivoalveoloplasty); for narrow cleft (less than 1 cm at the posterior border of hard palate) an "all in one" protocol is performed with or without gingivoalveoloplasty (in accordance to the presence or absence of contact between the stumps at alveolar level). The most important details regarding surgery of the lip and palate are discussed. Robust data collection on speech and skeletal growth is still needed to determine whether the "all in one" approach can be validated as the treatment of choice for unilateral complete lip and palate cleft in selected cases.

  19. Evaluation of fecal microorganisms of children with cleft palate before and after palatoplasty

    PubMed Central

    Vieira, Narciso Almeida; Borgo, Hilton Coimbra; da Silva Dalben, Gisele; Bachega, Maria Irene; Pereira, Paulo Câmara Marques

    2013-01-01

    This study isolated and quantified intestinal bacteria of children with cleft palate before and after palatoplasty. A prospective study was conducted from May 2007 to September 2008 on 18 children with cleft palate, aged one to four years, of both genders, attending a tertiary cleft center in Brazil for palatoplasty, to analyze the effect of surgical palate repair on the concentration of anaerobes Bacteroides sp, Bifidobacterium sp and microaerophiles Lactobacillus sp in feces of infants with cleft palate before and 24 hours after treatment with cefazolin for palatoplasty. There was significant reduction of Lactobacillus sp (p < 0.002), Bacteroides sp (p < 0.001) and Bifidobacterium sp (p = 0.021) after palatoplasty, revealing that surgery and utilization of cefazolin significantly influenced the fecal microbiota comparing collections before and after surgery. However, due to study limitations, it was not possible to conclude that other isolated factors, such as surgical stress, anesthetics and other medications used in palatoplasty might have a significant influence on the microbiota. Considering the important participation of the intestinal microbiota on both local and systemic metabolic and immunological activities of the host, professionals should be attentive to the possible influence of these changes in patients submitted to cleft repair. PMID:24516450

  20. Evolution of my philosophy in the treatment of unilateral cleft lip and palate.

    PubMed

    Brusati, Roberto

    2016-08-01

    At the end of 50-year-long clinical activity, the evolution of my approach to the treatment of unilateral cleft of the lip and palate is discussed. I had several teachers in this field (Rusconi, Reherman, Perko, Delaire, Talmant, Sommerlad and others) and I introduced in my approach what I considered to be improvements from all of them. My current protocol is related to the anatomy of the cleft: for wide clefts a two-stage protocol is applied (1° step: soft palate and lip and nose repair; 2° step: hard palate repair with gingivoalveoloplasty); for narrow cleft (less than 1 cm at the posterior border of hard palate) an "all in one" protocol is performed with or without gingivoalveoloplasty (in accordance to the presence or absence of contact between the stumps at alveolar level). The most important details regarding surgery of the lip and palate are discussed. Robust data collection on speech and skeletal growth is still needed to determine whether the "all in one" approach can be validated as the treatment of choice for unilateral complete lip and palate cleft in selected cases. PMID:27318751

  1. Oral and dental restoration of wide alveolar cleft using distraction osteogenesis and temporary anchorage devices.

    PubMed

    Rachmiel, Adi; Emodi, Omri; Gutmacher, Zvi; Blumenfeld, Israel; Aizenbud, Dror

    2013-12-01

    Closure of large alveolar clefts and restoration by a fixed bridge supported by implants is a challenge in cleft alveolus treatment. A major aesthetic concern with distraction osteogenesis is obtaining a predictable position of the implant in relation to the newly generated bony alveolar ridge. We describe the treatment of a large cleft alveolus and palate reconstruction by distraction osteogenesis utilizing temporary anchorage devices (TADs) followed by a fixed implant-supported bridge. The method consists of segmental bone transport by distraction osteogenesis using a bone-borne distractor to minimize the alveolar cleft, followed by closure of the residual small defect by bone grafting three months later. During the active transport distraction, TADs were used exerting multidirectional forces to control the distraction vector forward and laterally for better interarch relation. A vertical alveolar distraction of the newly reconstructed bone of 15 mm facilitated optimal implant placement. The endosseous implants were osteointegrated and supported a fixed dental prosthesis. In conclusion, the large cleft alveolus defect was repaired in three dimensions by distraction osteogenesis assisted by TADs, and the soft tissues expanded simultaneously. Endosseous implants were introduced in the newly reconstructed bone for a fixed dental prosthesis enabling, rehabilitation of aesthetics, eating and speaking.

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

    PubMed Central

    Seth, Anisha; Gupta, Rajat; Gupta, Anika; Raina, Usha K; Ghosh, Basudeb

    2015-01-01

    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. PMID:26044478

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

    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...

  4. Muencke syndrome with cleft lip and palate.

    PubMed

    Anderson, Peter J; Snell, Broughton; Moore, Mark H

    2013-07-01

    Muencke syndrome results from mutations in the FGFR3 gene, and although it is well recognized that the clinical presentation is variable, the important key finding includes coronal synostosis. We present a family where a mother with proven FGFR3 Pro250Arg mutation gave birth to identical twins both of whom had craniosynostosis but had coexisting bilateral cleft lip and palate. We believe that this is the first description of clefting occurring in conjunction with Muencke syndrome and so further extends the range of phenotypic variation that can occur in this syndrome. PMID:23851839

  5. Submucous cleft palate and the general practitioner

    PubMed Central

    Lowry, R. B.; Courtemanche, A. D.; MacDonald, C.

    1973-01-01

    Submucous cleft palate refers to a situation where the soft palate is largely composed of mucosa with little or no muscle. The defect is often not obvious on inspection of the mouth and pharynx. There is considerable clinical variation, with speech ranging from normal or minimal nasality to severe nasality and defective articulation. Many patients who have latent submucous cleft palate have the condition unmasked by an adenoidectomy because the adenoid pad had served as a compensatory factor in effecting palatopharyngeal closure. All physicians who perform tonsillectomy and adenoidectomy should be aware of the signs and symptoms which may suggest the diagnosis. ImagesFIG. 2 PMID:4758872

  6. Receptor-dependent mechanisms of glucocorticoid and dioxin-induced cleft palate

    SciTech Connect

    Pratt, R.M.

    1985-09-01

    Glucocorticoids (triamcinolone) and dioxins (TCDD) are highly specific teratogens in the mouse, in that cleft palate is the major malformation observed. Glucocorticoids and TCDD both readily cross the yolk sac and placenta and appear in the developing secondary palate. Structure-activity relationships for glucocorticoid- and TCDD-induced cleft palate suggest a receptor involvement. Receptors for glucocorticoids and TCDD are present in the palate and their levels in various mouse strains are highly correlated with their sensitivity to cleft palate induction. Receptors for glucocorticoids appear to be more prevalent in the palatal mesenchymal cells whereas those for TCDD are probably located in the palatal epithelial cells. Glucocorticoids exert their teratogenic effect on the palate by inhibiting the growth of the palatal mesenchymal cells whereas TCDD alters the terminal cell differentiation of the media palatal epithelial cells. 71 references.

  7. Thinking outside the cleft to understand synaptic activity: contribution of the cystine-glutamate antiporter (System xc-) to normal and pathological glutamatergic signaling.

    PubMed

    Bridges, Richard; Lutgen, Victoria; Lobner, Doug; Baker, David A

    2012-07-01

    System x(c)(-) represents an intriguing target in attempts to understand the pathological states of the central nervous system. Also called a cystine-glutamate antiporter, system x(c)(-) typically functions by exchanging one molecule of extracellular cystine for one molecule of intracellular glutamate. Nonvesicular glutamate released during cystine-glutamate exchange activates extrasynaptic glutamate receptors in a manner that shapes synaptic activity and plasticity. These findings contribute to the intriguing possibility that extracellular glutamate is regulated by a complex network of release and reuptake mechanisms, many of which are unique to glutamate and rarely depicted in models of excitatory signaling. Because system x(c)(-) is often expressed on non-neuronal cells, the study of cystine-glutamate exchange may advance the emerging viewpoint that glia are active contributors to information processing in the brain. It is noteworthy that system x(c)(-) is at the interface between excitatory signaling and oxidative stress, because the uptake of cystine that results from cystine-glutamate exchange is critical in maintaining the levels of glutathione, a critical antioxidant. As a result of these dual functions, system x(c)(-) has been implicated in a wide array of central nervous system diseases ranging from addiction to neurodegenerative disorders to schizophrenia. In the current review, we briefly discuss the major cellular components that regulate glutamate homeostasis, including glutamate release by system x(c)(-). This is followed by an in-depth discussion of system x(c)(-) as it relates to glutamate release, cystine transport, and glutathione synthesis. Finally, the role of system x(c)(-) is surveyed across a number of psychiatric and neurodegenerative disorders.

  8. Duplication of mental nerve in a patient with cleft lip-palate and rubella syndrome.

    PubMed

    Goodday, R H; Precious, D S

    1988-02-01

    A case of duplication of the mental nerve in a patient with cleft lip, cleft palate, and rubella syndrome is presented. The most vulnerable period of fetal infection by rubella virus corresponds with the critical period of development of the maxilla, mandible, and corresponding orofacial structures. The significance of duplication of the mental nerve is discussed in relation to the influence that this anatomic structure has on the growth and development of the mandible. The concept of activisms to explain such anomalies is reviewed.

  9. MEMS Sensor Technologies for Human Centred Applications in Healthcare, Physical Activities, Safety and Environmental Sensing: A Review on Research Activities in Italy

    PubMed Central

    Ciuti, Gastone; Ricotti, Leonardo; Menciassi, Arianna; Dario, Paolo

    2015-01-01

    Over the past few decades the increased level of public awareness concerning healthcare, physical activities, safety and environmental sensing has created an emerging need for smart sensor technologies and monitoring devices able to sense, classify, and provide feedbacks to users’ health status and physical activities, as well as to evaluate environmental and safety conditions in a pervasive, accurate and reliable fashion. Monitoring and precisely quantifying users’ physical activity with inertial measurement unit-based devices, for instance, has also proven to be important in health management of patients affected by chronic diseases, e.g., Parkinson’s disease, many of which are becoming highly prevalent in Italy and in the Western world. This review paper will focus on MEMS sensor technologies developed in Italy in the last three years describing research achievements for healthcare and physical activity, safety and environmental sensing, in addition to smart systems integration. Innovative and smart integrated solutions for sensing devices, pursued and implemented in Italian research centres, will be highlighted, together with specific applications of such technologies. Finally, the paper will depict the future perspective of sensor technologies and corresponding exploitation opportunities, again with a specific focus on Italy. PMID:25808763

  10. MEMS sensor technologies for human centred applications in healthcare, physical activities, safety and environmental sensing: a review on research activities in Italy.

    PubMed

    Ciuti, Gastone; Ricotti, Leonardo; Menciassi, Arianna; Dario, Paolo

    2015-01-01

    Over the past few decades the increased level of public awareness concerning healthcare, physical activities, safety and environmental sensing has created an emerging need for smart sensor technologies and monitoring devices able to sense, classify, and provide feedbacks to users' health status and physical activities, as well as to evaluate environmental and safety conditions in a pervasive, accurate and reliable fashion. Monitoring and precisely quantifying users' physical activity with inertial measurement unit-based devices, for instance, has also proven to be important in health management of patients affected by chronic diseases, e.g., Parkinson's disease, many of which are becoming highly prevalent in Italy and in the Western world. This review paper will focus on MEMS sensor technologies developed in Italy in the last three years describing research achievements for healthcare and physical activity, safety and environmental sensing, in addition to smart systems integration. Innovative and smart integrated solutions for sensing devices, pursued and implemented in Italian research centres, will be highlighted, together with specific applications of such technologies. Finally, the paper will depict the future perspective of sensor technologies and corresponding exploitation opportunities, again with a specific focus on Italy.

  11. Occipital meningoencephalocele with Cleft Lip, Cleft Palate and Limb Abnormalities- A Case Report.

    PubMed

    Ganapathy, Arthi; T, Sadeesh; Swer, Mary Hydrina; Rao, Sudha

    2014-12-01

    A 21-week-old still born female fetus with occipital encepholocele, cleft lip and cleft palate was received from the Department of Obstetrics and Gynecology, Mahatma Gandhi Medical College and Research Institute, Pondicherry and was studied in detail. It was born to Primigravida, of a second degree consanguineous marriage, with unremarkable family history. The biometric measurements were noted which corresponded to the age of the fetus. Further the fetus was embalmed and dissected. On examination an encephalocele of 2.7×1.5 cm was seen in the occipital region with a midline defect in the occipital bone and herniated brain tissue. Other anomalies observed were right unilateral cleft lip, right cleft palate, and bilateral syndactyly of the lower limbs and associated Congenital Talipus Equino Varus of the right foot. Other internal organs were developed appropriate for the age of the fetus.

  12. Comparison of iPad applications with traditional activities using person-centred care approach: impact on well-being for persons with dementia.

    PubMed

    Leng, Fong Yoke; Yeo, Donald; George, Stacey; Barr, Christopher

    2014-03-01

    Professionals working with people with dementia need to develop new activities that occupy patients and increase positive emotions. Dementia care mapping is a reliable method of measuring well-being during activities with people with dementia. The iPad has many applications that may be suitable as a group activity for persons with dementia. Six people with dementia took part in two traditional and two iPad activities over two days. Well-being was recorded using dementia care mapping. Subjects displayed similar or better levels of well-being during iPad activities than traditional activities. A larger variation of behaviors was seen during iPad activities than traditional activities. With detailed planning using a person-centred care approach, iPad group activity has the potential to be as effective and engaging as other conventional activities in achieving well-being.

  13. Possible sex-discriminant variables in craniofacial growth in clefting.

    PubMed

    Long, R E; Jain, R B; Krogman, W M

    1982-11-01

    In this investigation, 174 patients with orofacial clefts were examined for identification of possible sex differences in craniodentofacial measurements. The patients were selected from the longitudinal growth files of the H. K. Cooper Clinic. Records available for analysis were serial lateral cephalometric radiographs from the age of 1 month to 10 years. Patients were grouped by cleft type and sex within each cleft group (78 cleft palate only, 64 unilateral cleft of lip and palate, 32 bilateral cleft of lip and palate). Stepwise discriminant analysis of fourteen linear and angular craniofacial dimensions was used to identify those variables which contributed to sex differences within each cleft group over the growth/time intervals examined. Results suggested the possibility of sex-related differences in growth timing, that is, earlier maturation and growth in females in several craniofacial areas which did not appear to be related to the presence, absence, or type of cleft but which could possibly modify cleft-specific responses to treatment (cranial base dimensions, face heights). Other sex-related differences appeared to be more specifically related to known sex differences in original cleft type and severity (mandibular size and position, midfacial dimensions). The manner in which these various sex factors interface with environmental and therapeutic influences in producing the ultimate craniodentofacial morphology in a given sex and cleft type is discussed.

  14. Folic Acid and Orofacial Clefts: A Review of the Evidence

    PubMed Central

    Wehby, George

    2010-01-01

    Orofacial clefts are common and burdensome birth defects with a complex genetic and environmental etiology. The contribution of nutritional factors and supplements to the etiology of orofacial clefts has long been theorized and studied. Multiple studies have evaluated the role of folic acid in the occurrence and recurrence of orofacial clefts, using observational and non-randomized interventional designs. While preventive effects of folic acid on orofacial clefts are commonly reported, the evidence remains generally inconsistent. This paper reviews the findings of the main studies of the effects of folic acid on orofacial clefts, summarize study limitations, and discuss research needs with a focus on studying the effects of high dosage folic acid on the recurrence of oral clefts using a randomized clinical trial design. The role of folic acid in the prevention of neural tube defects is also briefly summarized and discussed as a reference model for orofacial clefts. PMID:20331806

  15. Tobacco smoking and oral clefts: a meta-analysis.

    PubMed Central

    Little, Julian; Cardy, Amanda; Munger, Ronald G.

    2004-01-01

    OBJECTIVE: To examine the association between maternal smoking and non-syndromic orofacial clefts in infants. METHODS: A meta-analysis of the association between maternal smoking during pregnancy was carried out using data from 24 case-control and cohort studies. FINDINGS: Consistent, moderate and statistically significant associations were found between maternal smoking and cleft lip, with or without cleft palate (relative risk 1.34, 95% confidence interval 1.25-1.44) and between maternal smoking and cleft palate (relative risk 1.22, 95% confidence interval 1.10-1.35). There was evidence of a modest dose-response effect for cleft lip with or without cleft palate. CONCLUSION: The evidence of an association between maternal tobacco smoking and orofacial clefts is strong enough to justify its use in anti-smoking campaigns. PMID:15112010

  16. Community Mobilization and Awareness Creation for Orofacial Cleft Services: A Survey of Nigerian Cleft Service Providers

    PubMed Central

    2014-01-01

    Background. The opportunity to provide free surgical care for orofacial clefts has opened a new vista and is enhanced by well-informed communities who are aware of the free surgical services available to them. It is the responsibility of cleft care providers to adequately inform these communities via a combination of community mobilization and awareness creation. Methods. This was a nationwide, cross-sectional descriptive study of all orofacial cleft service providers in Nigeria using a structured, self-administered questionnaire. Results. A total of 4648 clefts have been repaired, 50.8% by the ten government-owned and 49.2% by the five nongovernment-owned organizations included in the study. The nongovernment-owned institutions seemed to be more aggressive about community mobilization and awareness creation than government-owned ones, and this was reflected in their patient turnout. Most of the organizations studied would prefer a separate, independent body to handle their awareness campaign. Conclusion. Community mobilization requires skill and dedication and may require formal training or dedicated budgets by government-owned and nongovernment-owned institutions alike. Organizations involved in cleft care provision must take community mobilization and awareness seriously if the largely unmet needs of orofacial cleft patients in Nigeria are to be tackled. PMID:27350971

  17. Parental Reactions to Cleft Palate Children.

    ERIC Educational Resources Information Center

    Vanpoelvoorde, Leah; Shaughnessy, Michael F.

    1991-01-01

    This paper reviews parents' emotional reactions following the birth of a cleft lip/palate child. It examines when parents were told of the deformity and discusses the duties of the speech-language pathologist and the psychologist in counseling the parents and the child. (Author/JDD)

  18. Cleft lip and palate: diagnosis and management.

    PubMed

    Taib, Bilal G; Taib, Adnan G; Swift, Andrew C; van Eeden, Simon

    2015-10-01

    Cleft lip and palate is the most common congenital facial anomaly in children, which can affect appearance, speech, hearing, growth, psychosocial wellbeing and social integration. This article provides an overview of the condition for the benefit of all health-care professionals.

  19. Parental Reactions to Cleft Palate Children.

    ERIC Educational Resources Information Center

    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…

  20. Neuroembryology and functional anatomy of craniofacial clefts

    PubMed Central

    Ewings, Ember L.; Carstens, Michael H.

    2009-01-01

    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. PMID:19884675

  1. Two rare cases of simultaneous Tessier number 3 cleft, contralateral cleft lip, and signs of amniotic band syndrome.

    PubMed

    Xu, Yi; Mu, Yue; Chen, Renji; Zheng, Zongmei; Zhang, Wenjing

    2016-06-01

    The Tessier number 3 cleft is rare. In this paper, we report two extremely rare cases of simultaneous Tessier number 3 cleft, contralateral cleft lip, and signs of amniotic band syndrome. In the two cases, we confirmed that amniotic bands were the probable cause of the Tessier number 3 cleft, where swallowed fibrous strands of amniotic bands entangle a typical cleft lip and cause the more severe Tessier number 3 cleft. In this study, Z-plasty was performed for one case, and a straight-line method was used for the other. Postoperatively, the appearance of both patients was satisfactory, as expected. Consequently, treatment for the Tessier number 3 cleft should be designed individually based on the severity of deformity.

  2. Two rare cases of simultaneous Tessier number 3 cleft, contralateral cleft lip, and signs of amniotic band syndrome.

    PubMed

    Xu, Yi; Mu, Yue; Chen, Renji; Zheng, Zongmei; Zhang, Wenjing

    2016-06-01

    The Tessier number 3 cleft is rare. In this paper, we report two extremely rare cases of simultaneous Tessier number 3 cleft, contralateral cleft lip, and signs of amniotic band syndrome. In the two cases, we confirmed that amniotic bands were the probable cause of the Tessier number 3 cleft, where swallowed fibrous strands of amniotic bands entangle a typical cleft lip and cause the more severe Tessier number 3 cleft. In this study, Z-plasty was performed for one case, and a straight-line method was used for the other. Postoperatively, the appearance of both patients was satisfactory, as expected. Consequently, treatment for the Tessier number 3 cleft should be designed individually based on the severity of deformity. PMID:27052637

  3. Syntax and Discourse in Near-Native French: Clefts and Focus

    ERIC Educational Resources Information Center

    Donaldson, Bryan

    2012-01-01

    This study examines aspects of the syntax-discourse interface in near-native French. Two cleft structures--"c'est" clefts and "avoir" clefts--are examined in experimental and spontaneous conversational data from 10 adult Anglophone learners of French and ten native speakers of French. "C'est" clefts mark focus, and "avoir" clefts introduce new…

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

    PubMed

    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. PMID:26010214

  5. Defining predictors of cleft lip and palate risk.

    PubMed

    Yildirim, M; Seymen, F; Deeley, K; Cooper, M E; Vieira, A R

    2012-06-01

    Individuals with clefts present considerably more dental anomalies than individuals without clefts. We also have shown that these individuals report cancer in their families more often than do unaffected individuals. We investigated how these conditions correlated with genetic variants associated with clefts to ascertain if specific molecular signatures exist that could help identify individuals at risk for having offspring with these defects. We examined 573 individuals, 158 with clefts, 254 unaffected family members, and 161 non-related controls. Several clinical features, such as laterality, the presence of dental anomalies, medical history, and pregnancy history, were used to assess each individual's cleft status. Then, we performed molecular studies with genes that have been independently associated with oral clefts. We analyzed two datasets: nuclear families and case-control individuals where the case was the child from the family and controls were unrelated non-clefted individuals. In the family data, we confirmed association between clefts and rs987525 on chromosome 8 (p = 0.007) and found an association with rs987525 and tooth agenesis (p = 0.0003). In the case-control data, clefts, supernumerary teeth and familial cancer history were associated with ABCA4-rs481931 on chromosome 1 (p = 2E-19, 0.0007, 2E-06, respectively), and clefts and microdontia were associated with rs1325474 on chromosome 6 (p = 1E-06, 0.0002, respectively). PMID:22496123

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

    PubMed

    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.

  7. Occurrence of dental consonant misarticulations in different cleft types.

    PubMed

    Laitinen, J; Haapanen, M L; Paaso, M; Pulkkinen, J; Heliövaara, A; Ranta, R

    1998-01-01

    To study the occurrence and type of misarticulations in dental consonants /r/, /s/ and /l/ 280 (115 girls, 165 boys) 6-year-old cleft children were examined by 1 of the 2 experienced speech pathologists of the cleft team. The patients included 82 children with isolated cleft palate (CP), 82 with cleft lip with (34) or without (48) cleft alveolus [CL(A)], 85 with unilateral cleft lip and palate (UCLP) and 31 with bilateral cleft lip and palate (BCLP). CP children were first divided into subgroups; there were 17 children with soft palate cleft, 49 with partial and 16 with complete hard palate cleft. All patients were native Finnish speakers, and had normal hearing, no known syndrome or associated anomalies possibly affecting speech or psychomotor retardation. The results showed that the occurrence and severity as well as the number of errors of all studied sounds separately or grouped increased with the severity of the cleft being constantly greatest in the BCLP group and lowest in the CL(A) group. Altogether 44% of the patients misarticulated at least one studied sound; 41% distorted and 5% substituted, and 2% both distorted and substituted. The /r/ sound was misarticulated by 36%, the /s/ sound by 23%, and the /l/ sound by 18% of the patients. Boys tend to have more problems in producing the studied sounds correctly.

  8. Definition of Critical Periods for Hedgehog Pathway Antagonist-Induced Holoprosencephaly, Cleft Lip, and Cleft Palate

    PubMed Central

    Heyne, Galen W.; Melberg, Cal G.; Doroodchi, Padydeh; Parins, Kia F.; Kietzman, Henry W.; Everson, Joshua L.; Ansen-Wilson, Lydia J.; Lipinski, Robert J.

    2015-01-01

    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. PMID:25793997

  9. [Cleft rhinoplasty, from primary to secondary surgery].

    PubMed

    Talmant, Jean-Claude; Talmant, Jean-Christian

    2014-12-01

    Despite fifty years of statistics, congresses, publications, the cleft nose remains an enigma to the great majority of cleft specialists. Most of the published papers give recipes to camouflage the cleft deformity, very few are concerned by the functional anatomy and its relation with facial growth. The complexity of the matter, the results frequently disappointing, the lack of awareness of the necessity of early nasal breathing, and the academic condemnation of any imperfect attempt to correct the nose at the time of the first operation have led to resignation. For the last forty years, we have been involved in a careful and obstinate research about the early correction of the cleft nose deformity. We wish to present our conclusions in this chapter with at least 17 years of follow-up. They are as following: in cleft patients the nasal cartilages are only deformed. We can achieve sub periosteal and sub perichondrial dissections by 6 months of age without being harmful for facial and nasal growth. Repositioning accurately the nasal structures is enough if we are able to control the healing process and prevent endonasal wound contraction. We have not to do any compromise and favor one function with regard to the others, nasal ventilation being the most important for a good facial growth. In a word, nasal pediatric surgery is necessary at the time of the first operation from 6 months of age and should be carried on with a double demand, aesthetic and functional. To achieve this goal, we must have a sound knowledge of the cleft nose deformity, of the adequate surgical techniques and of the logic chronology to reach the best result. The nose repair cannot be limited to the nasal cartilages. The whole nasal structure is concerned especially its bony framework, the width of which at the level of the piriform orifice and the nasal floor depends on the outcomes of any surgical step that it would relate to the lip, palate or alveolar closure. Interaction of all these factors

  10. The role of community centre-based arts, leisure and social activities in promoting adult well-being and healthy lifestyles.

    PubMed

    Jones, Mat; Kimberlee, Richard; Deave, Toity; Evans, Simon

    2013-05-01

    Developed countries are experiencing high levels of mental and physical illness associated with long term health conditions, unhealthy lifestyles and an ageing population. Given the limited capacity of the formal health care sector to address these public health issues, attention is turning to the role of agencies active in civil society. This paper sought to evaluate the associations between participation in community centre activities, the psycho-social wellbeing and health related behaviours. This was based on an evaluation of the South West Well-being programme involving ten organisations delivering leisure, exercise, cooking, befriending, arts and crafts activities. The evaluation consisted of a before-and-after study with 687 adults. The results showed positive changes in self-reported general health, mental health, personal and social well-being. Positive changes were associated with diet and physical activity. Some activities were different in their outcomes-especially in cases where group activities were combined with one-to-one support. The results suggest that community centre activities of this nature offer benefits that are generically supportive of health behaviour changes. Such initiatives can perform an important role in supporting the health improvement objectives of formal health care services. For commissioners and partner agencies, accessibility and participation are attractive features that are particularly pertinent to the current public health context. PMID:23665850

  11. Communicating astronomy by the Unizul Science Centre

    NASA Astrophysics Data System (ADS)

    Beesham, A.; Beesham, N.

    2015-03-01

    The University of Zululand, situated along the east coast of KwaZulu-Natal, has a thriving Science Centre (USC) situated in the developing port city of Richards Bay. Over 30 000 learners visit the centre annually, and it consists of an exhibition area, an auditorium, lecture areas and offices. The shows consist of interactive games, science shows, competitions, quizzes and matriculation workshops. Outreach activities take place through a mobile science centre for schools and communities that cannot visit the centre.

  12. FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate

    PubMed Central

    Moreno, Lina M.; Mansilla, Maria Adela; Bullard, Steve A.; Cooper, Margaret E.; Busch, Tamara D.; Machida, Junichiro; Johnson, Marla K.; Brauer, David; Krahn, Katherine; Daack-Hirsch, Sandy; L'Heureux, Jamie; Valencia-Ramirez, Consuelo; Rivera, Dora; López, Ana Maria; Moreno, Manuel A.; Hing, Anne; Lammer, Edward J.; Jones, Marilyn; Christensen, Kaare; Lie, Rolv T.; Jugessur, Astanand; Wilcox, Allen J.; Chines, Peter; Pugh, Elizabeth; Doheny, Kim; Arcos-Burgos, Mauricio; Marazita, Mary L.; Murray, Jeffrey C.; Lidral, Andrew C.

    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 undertook an iterative and complementary fine mapping strategy using family-based CL/P samples from Colombia, USA and the Philippines. Candidate genes within 9q22–q33 were sequenced, revealing 32 new variants. Concurrently, 397 SNPs spanning the 9q22–q33 2-LOD-unit interval were tested for association. Significant SNP and haplotype association signals (P = 1.45E − 08) narrowed the interval to a 200 kb region containing: FOXE1, C9ORF156 and HEMGN. Association results were replicated in CL/P families of European descent and when all populations were combined the two most associated SNPs, rs3758249 (P = 5.01E − 13) and rs4460498 (P = 6.51E − 12), were located inside a 70 kb high linkage disequilibrium 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 distinct. Foxe1 expression was found in the epithelium undergoing fusion between the medial nasal and maxillary processes. Mutation screens of FOXE1 identified two family-specific missense mutations at highly conserved amino acids. These data indicate that FOXE1 is a major gene for CL/P and provides new insights for improved counseling and genetic interaction studies. PMID:19779022

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

    PubMed Central

    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. PMID:26923345

  14. SPOT4 Management Centre

    NASA Technical Reports Server (NTRS)

    Labrune, Yves; Labbe, X.; Roussel, A.; Vielcanet, P.

    1994-01-01

    In the context of the CNES SPOT4 program CISI is particularly responsible for the development of the SPOT4 Management Centre, part of the SPOT4 ground control system located at CNES Toulouse (France) designed to provide simultaneous control over two satellites. The main operational activities are timed to synchronize with satellite visibilities (ten usable passes per day). The automatic capability of this system is achieved through agenda services (sequence of operations as defined and planned by operator). Therefore, the SPOT4 Management Centre offers limited, efficient and secure human interventions for supervision and decision making. This paper emphasizes the main system characteristics as degree of automation, level of dependability and system parameterization.

  15. Elderly Care Centre

    NASA Astrophysics Data System (ADS)

    Wagiman, Aliani; Haja Bava Mohidin, Hazrina; Ismail, Alice Sabrina

    2016-02-01

    The demand for elderly centre has increased tremendously abreast with the world demographic change as the number of senior citizens rose in the 21st century. This has become one of the most crucial problems of today's era. As the world progress into modernity, more and more people are occupied with daily work causing the senior citizens to lose the care that they actually need. This paper seeks to elucidate the best possible design of an elderly care centre with new approach in order to provide the best service for them by analysing their needs and suitable activities that could elevate their quality of life. All these findings will then be incorporated into design solutions so as to enhance the living environment for the elderly especially in Malaysian context.

  16. [Congenital laryngo-tracheo-esophageal cleft].

    PubMed

    Sørensen, J A; Godballe, C; Jørgensen, K; Pedersen, S A

    1989-01-01

    A typical case of congenital laryngo-trachea-esophageal cleft (LTEC) is presented with a Review of the literature. LTEC is a rare congenital anomaly caused by defective fusion of the septum between larynx/trachea and hypopharynx/esophagus. The septum is formed by fusion of two lateral folds growing medially in very early foetal life. Fusion progresses in a cranial direction. Disturbances in septum formation result in LTEC. The disease gives respiratory problems with aspiration and excessive salivary production. The diagnosis is best made by intubating the larynx and examining the postcricoid region and anterior wall of the esophagus endoscopically. Stapling of the stomach, tracheostomy and secondary operative closure of the cleft has proved effective in the treatment of LTEC. PMID:2911891

  17. Management of the cleft lip nasal deformity.

    PubMed

    Dutton, J M; Bumsted, R M

    2001-02-01

    Management of the cleft lip nasal deformity offers a unique and ongoing challenge in facial plastic surgery. Although there has been no consensus regarding the optimal timing and technique for surgical repair of this deformity, the authors have found a three-tiered approach to be satisfactory. This approach involves a primary rhinoplasty performed at the time of the initial cleft lip repair to address reconstruction of the nasal floor and sill, columellar lengthening, repositioning of the alar base, and repositioning of the skin and mucosa of the lower lateral cartilage. Following alveolar bone grafting, an intermediate rhinoplasty is often performed at 6 to 10 years of age through an open approach to correct the cartilaginous lower nasal deformity. A delayed rhinoplasty is then performed in the later teenage years to correct the bony dorsal deformity and the various causes of nasal obstruction.

  18. Aesthetic considerations of the cleft lip operation.

    PubMed

    Onizuka, T; Keyama, A; Asada, K; Shinomiya, S; Aoyama, R

    1986-01-01

    The results of a cleft lip operation are checked from the anterior, the profile, and the caudal views and even if the deformities are minimal, for aesthetic reasons they should be repaired. Philtrum length, philtrum shape, philtrum depth, nasolabial triangular area, vermilion thickness, Cupid's bow peak, horizontal upper lip groove, vermilion border, alar size, depth of alar groove, nasal deviation, nostril shape, nasal tip, columella height, sill shape, columella width, and facial balance of the anterior, profile, and caudal views are used as aesthetic checkpoints for the results of a cleft lip operation. If deformities are found, the aesthetic plastic surgeon should repair them to achieve a more satisfactory result. In addition, augmentation rhinoplasty, augmentation mentoplasty, or other craniofacial surgery may be performed.

  19. Histone acetylation is involved in TCDD‑induced cleft palate formation in fetal mice.

    PubMed

    Yuan, Xingang; Qiu, Lin; Pu, Yalan; Liu, Cuiping; Zhang, Xuan; Wang, Chen; Pu, Wei; Fu, Yuexian

    2016-08-01

    The aim of the present was to evaluate the effects of DNA methylation and histone acetylation on 2,3,7,8‑tetrachlorodibenzo‑p‑dioxin (TCDD)‑induced cleft palate in fetal mice. Pregnant mice (n=10) were randomly divided into two groups: i) TCDD group, mice were treated with 28 µg/kg TCDD on gestation day (GD) 10 by oral gavage; ii) control group, mice were treated with an equal volume of corn oil. On GD 16.5, the fetal mice were evaluated for the presence of a cleft palate. An additional 36 pregnant mice were divided into the control and TCDD groups, and palate samples were collected on GD 13.5, GD 14.5 and GD 15.5, respectively. Transforming growth factor‑β3 (TGF‑β3) mRNA expression, TGF‑β3 promoter methylation, histone acetyltransferase (HAT) activity and histone H3 (H3) acetylation in the palates were evaluated in the two groups. The incidence of a cleft palate in the TCDD group was 93.55%, and no cases of cleft palate were identified in the control group. On GD 13.5 and GD 14.5, TGF‑β3 mRNA expression, HAT activity and acetylated H3 levels were significantly increased in the TCDD group compared with the control. Methylated bands were not observed in the TCDD or control groups. In conclusion, at the critical period of palate fusion (GD 13.5‑14.5), TCDD significantly increased TGF‑β3 gene expression, HAT activity and H3 acetylation. Therefore, histone acetylation may be involved in TCDD‑induced cleft palate formation in fetal mice. PMID:27279340

  20. Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting.

    PubMed

    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

  1. Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting

    PubMed Central

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

    2015-01-01

    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 χ2 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 cleft

  2. Newborn craniofacial malformations: orofacial clefting and craniosynostosis.

    PubMed

    Hamm, J Austin; Robin, Nathaniel H

    2015-06-01

    Craniofacial malformations are among the most common birth defects. Although most cases of orofacial clefting and craniosynostosis are isolated and sporadic, these abnormalities are associated with a wide range of genetic syndromes, and making the appropriate diagnosis can guide management and counseling. Patients with craniofacial malformation are best cared for in a multidisciplinary clinic that can coordinate the care delivered by a diverse team of providers.

  3. The Evolution of Human Genetic Studies of Cleft Lip and Cleft Palate

    PubMed Central

    Marazita, Mary L.

    2013-01-01

    Orofacial clefts (OFCs)—primarily cleft lip and cleft palate—are among the most common birth defects in all populations worldwide, and have notable population, ethnicity, and gender differences in birth prevalence. Interest in these birth defects goes back centuries, as does formal scientific interest; scientists often used OFCs as examples or evidence during paradigm shifts in human genetics, and have also used virtually every new method of human genetic analysis to deepen our understanding of OFC. This review traces the evolution of human genetic investigations of OFC, highlights the specific insights gained about OFC through the years, and culminates in a review of recent key OFC genetic findings resulting from the powerful tools of the genomics era. Notably, OFC represents a major success for genome-wide approaches, and the field is poised for further breakthroughs in the near future. PMID:22703175

  4. Rehabilitation of Cleft Palate: Parents and Professionals, A Unifying Model

    ERIC Educational Resources Information Center

    Pannbacker, Mary; Schneiderman, Carl

    1977-01-01

    Described are commonalities and differences between parents of children with cleft palate and rehabilitation professionals, and offered are suggestions to increase communication and joint effectiveness. (DB)

  5. Corticosteroid use during pregnancy and risk of orofacial clefts

    PubMed Central

    Hviid, Anders; Mølgaard-Nielsen, Ditte

    2011-01-01

    Background The association between the risk of orofacial clefts in infants and the use of corticosteroids during pregnancy is unclear from the available evidence. We conducted a nationwide cohort study of all live births in Denmark over a 12-year period. Methods We collected data on all live births in Denmark from Jan. 1, 1996, to Sept. 30, 2008. We included live births for which information was available from nationwide health registries on the use of corticosteroids during pregnancy, the diagnosis of an orofacial cleft and possible confounders. Results There were 832 636 live births during the study period. Exposure to corticosteroids during the first trimester occurred in 51 973 of the pregnancies. A total of 1232 isolated orofacial clefts (i.e., cleft lip, cleft palate, or cleft lip and cleft palate) were diagnosed within the first year of life, including 84 instances in which the infant had been exposed to corticosteroids during the first trimester of pregnancy. We did not identify any statistically significant increased risk of orofacial clefts associated with the use of corticosteroids: cleft lip with or without cleft palate, prevalence odds ratio (OR) 1.05 (95% confidence interval [CI] 0.80–1.38]; cleft palate alone, prevalence OR 1.23 (95% CI 0.83–1.82). Odds ratios for risk of orofacial clefts by method of delivery (i.e., oral, inhalant, nasal spray, or dermatologic and other topicals) were consistent with the overall results of the study and did not display significant heterogeneity, although the OR for cleft lip with or without cleft palate associated with the use of dermatologic corticosteroids was 1.45 (95% CI 1.03–2.05). Interpretation Our results add to the safety information on a class of drugs commonly used during pregnancy. Our study did not show an increased risk of orofacial clefts with the use of corticosteroids during pregnancy. Indepth investigation of the pattern of association between orofacial clefts and the use of dermatologic

  6. Acute Liver Failure and Hepatic Encephalopathy After Cleft Palate Repair.

    PubMed

    Kocaaslan, Nihal Durmuş; Tuncer, Fatma Betul; Tutar, Engin; Celebiler, Ozhan

    2015-09-01

    Paracetamol is the most commonly used analgesic after cleft palate repair. It has rarely caused acute hepatic failure at therapeutic or supratherapeutic doses. Only one case of therapeutic paracetamol toxicity after cleft palate repair had been reported previously. Here, we present a similar patient who developed acute liver failure and hepatic encephalopathy after an uncomplicated cleft palate surgery. Lack of large prospective trials in young children due to ethical concerns increases the value of the case reports of acetaminophen toxicity at therapeutic doses. The dosing recommendations of paracetamol may need to be reconsidered after cleft palate surgery.

  7. Cortical Clefts and Cortical Bumps: A Continuous Spectrum.

    PubMed

    Biswas, Asthik; Furruqh, Farha; Thirunavukarasu, Suresh; Vivekandan, Ravichandran

    2016-07-01

    Cortical 'clefts' (schizencephaly) and cortical 'bumps' (polymicrogyria) are malformations arising due to defects in postmigrational development of neurons. They are frequently encountered together, with schizencephalic clefts being lined by polymicrogyria. We present the case of an eight-year-old boy who presented with seizures. Imaging revealed closed lip schizencephaly, polymicrogyria and a deep 'incomplete' cleft lined by polymicrogyria not communicating with the lateral ventricle. We speculate that hypoperfusion or ischaemic cortical injury during neuronal development may lead to a spectrum of malformations ranging from polymicrogyria to incomplete cortical clefts to schizencephaly. PMID:27630923

  8. Minimal standards for reporting the results of surgery on patients with cleft lip, cleft palate, or both: a proposal.

    PubMed

    Dalston, R M; Marsh, J L; Vig, K W; Witzel, M A; Bumsted, R M

    1988-01-01

    This article proposes a set of minimal standards for reporting the results of surgery on patients with cleft lip with or without cleft palate and cleft palate only. These standards do not represent what is technically possible, only what is considered minimally acceptable for presentation in a public forum. They have a clinical focus and should be attainable by any well-constituted cleft palate team. As the title indicates, this document is a proposal. It is hoped that the readership will respond to the recommendations presented so that some set of standards can be adopted in the near future. Once adopted, these standards should be reviewed and updated periodically.

  9. EPR and spin-lattice relaxation of rare-earth activated centres in Y 2SiO 5 single crystals

    NASA Astrophysics Data System (ADS)

    Kurkin, I. N.; Chernov, K. P.

    1980-08-01

    An investigation of the EPR spectra and spin-lattice relaxation of Ce 3+, Nd 3+ and Yb 3+ ions in Y 2SiO 5 single crystals has been carried out. Two different EPR spectra for each rare-earth ion are observed due to a substitution of Y 1 and Y 2 sites crytals. Spin-lattice relaxation times for both activated centres are shown to be essentially different, although static crystal field of Y 1 and Y 2 sites differ slightly.

  10. Aesthetic outcome of cleft lip and palate treatment. Perceptions of patients, families, and health professionals compared to the general public.

    PubMed

    Gkantidis, Nikolaos; Papamanou, Despina A; Christou, Panagiotis; Topouzelis, Nikolaos

    2013-10-01

    The aesthetic outcome of cleft treatment is of great importance due to its complex management and the psychosocial consequences of this defect. The aim of the study was to assess the aesthetic evaluations of patients following cleft surgery by various groups and investigate potential associations of the assessments with life quality parameters. Head photos of 12 adult patients with treated unilateral cleft lip and palate were evaluated by laypeople and professionals. A questionnaire was distributed and answered by the patients and their parents. Intra-panel agreement was high (α > 0.8) for laypeople and professionals. Between-groups agreement was high for both laypeople and professionals, but not when patients and/or parents were tested. Professionals, parents, and patients were more satisfied with patients' appearance than laypeople, although in general all groups were not highly satisfied. Low satisfaction with aesthetics correlated with increased self-reported influence of the cleft in the patients' social activity and professional life (0.56 < rho < 0.74, p < 0.05). These findings highlight the observed negative influence of the cleft on the patient's social activity and professional life and underline the need for the highest quality of surgical outcome for this group of patients.

  11. Barriers to Care for Children with Orofacial Clefts in North Carolina

    PubMed Central

    Cassell, Cynthia H.; Strassle, Paula; Mendez, Dara D.; Lee, Kyung A.; Krohmer, Anne; Meyer, Robert E.; Strauss, Ronald P.

    2015-01-01

    Background Little is known about the barriers faced by families of children with birth defects in obtaining healthcare. We examined reported perceived barriers to care and satisfaction with care among mothers of children with orofacial clefts. Methods In 2006, a validated barriers to care mail/phone survey was administered in North Carolina to all resident mothers of children with orofacial clefts born between 2001 and 2004. Potential participants were identified using the North Carolina Birth Defects Monitoring Program, an active, state-wide, population-based birth defects registry. Five barriers to care subscales were examined: pragmatics, skills, marginalization, expectations, and knowledge/beliefs. Descriptive and bivariate analyses were conducted using chi-square and Fisher's exact tests. Results were stratified by cleft type and presence of other birth defects. Results Of 475 eligible participants, 51.6% (n = 245) responded. The six most commonly reported perceived barriers to care were all part of the pragmatics subscale: having to take time off work (45.3%); long waits in the waiting rooms (37.6%); taking care of household responsibilities (29.7%); meeting other family members' needs (29.5%); waiting too many days for appointments (27.0%); and cost (25.0%). Most respondents (72.3%, 175/242) felt “very satisfied” with their child's cleft care. Conclusion Although most participants reported being satisfied with their child's care, many perceived barriers to care were identified. Due to the limited understanding and paucity of research on barriers to care for children with birth defects, including orofacial clefts, additional research on barriers to care and factors associated with them are needed. PMID:25200965

  12. [Cleft lip and palate: case-control study].

    PubMed

    Loffredo, L de C; de Souza, J M; Yunes, J; Freitas, J A; Spiri, W C

    1994-06-01

    This study relates to a case-control analysis for the purpose of verifying the association between oral clefts and possible risk factors. The analysed variables were: place of mother's residence (urban/rural), pollution, parental diseases, mother's diseases during the first four months of pregnancy, intake of drugs related to this period, heredity, smoking habits, alcohol consumption and X-ray examinations during pregnancy or X-ray examinations prior to pregnancy. There were 450 cases of clefts of whom 354 had a cleft lip with or without cleft palate and 96 had a cleft palate. The relative risk (RR) for each variable by was estimated points and at a 95% of confidence interval and multivariate analysis was applied. As regards cleft lip with or without cleft palate, the risk factors are heredity (RR = 4.96), epilepsy in the mother (RR = 2.39) and the intake of drugs such as anti-inflammatory substance in the first four months of pregnancy (RR = 2.59). Related to cleft palate, the risk factors are heredity (RR = 2.82) and pollution (RR = 2.58).

  13. Single-Word Intelligibility in Speakers with Repaired Cleft Palate

    ERIC Educational Resources Information Center

    Whitehill, Tara L.; Chau, Cynthia H.-F.

    2004-01-01

    Many speakers with repaired cleft palate have reduced intelligibility, but there are limitations with current procedures for assessing intelligibility. The aim of this study was to construct a single-word intelligibility test for speakers with cleft palate. The test used a multiple-choice identification format, and was based on phonetic contrasts…

  14. Early Speech Production of Children with Cleft Palate.

    ERIC Educational Resources Information Center

    Estrem, Theresa; Broen, Patricia A.

    1989-01-01

    The study comparing word-initial target phonemes and phoneme production of five toddlers with cleft palate and five normal toddlers found that the cleft palate children tended to target more words with word-initial nasals, approximants, and vowels and fewer words with word-initial stops, fricatives, and affricates than normal children. (Author/DB)

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

    ERIC Educational Resources Information Center

    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…

  16. A Glance at Methods for Cleft Palate Repair

    PubMed Central

    Tavakolinejad, Sima; Ebrahimzadeh Bidskan, Alireza; Ashraf, Hami; Hamidi Alamdari, Daryoush

    2014-01-01

    Context: Cleft palate is the second most common birth defect and is considered as a challenge for pediatric plastic surgeons. There is still a general lack of a standard protocol and patients often require multiple surgical interventions during their lifetime along with disappointing results. Evidence Acquisition: PubMed search was undertaken using search terms including 'cleft palate repair', 'palatal cleft closure', 'cleft palate + stem cells', 'cleft palate + plasma rich platelet', 'cleft palate + scaffold', 'palatal tissue engineering', and 'bone tissue engineering'. The found articles were included if they defined a therapeutic strategy and/or assessed a new technique. Results: We reported a summary of the key-points concerning cleft palate development, the genes involving this defect, current therapeutic strategies, recently novel aspects, and future advances in treatments for easy and fast understanding of the concepts, rather than a systematic review. In addition, the results were integrated with our recent experience. Conclusions: Tissue engineering may open a new window in cleft palate reconstruction. Stem cells and growth factors play key roles in this field. PMID:25593724

  17. A rare case of proboscis lateralis with median cleft lip.

    PubMed

    Sakamoto, Yoshiaki; Nakajima, Tatsuo; Miyamoto, Junpei

    2010-09-01

    A very rare case of proboscis lateralis is reported. This case is different from previously reported cases due to proboscis lateralis, single nostril, loss of columella, and median cleft lip without holoprosencephaly. In addition, this is considered the first surviving individual with proboscis lateralis accompanied by median cleft lip. PMID:20509764

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

    ERIC Educational Resources Information Center

    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…

  19. Lexical selectivity in danish toddlers with cleft palate.

    PubMed

    Willadsen, Elisabeth

    2013-07-01

    Objective : To study if Danish children with cleft palate display lexical selectivity in their early lexicon at 18 months of age. Design : A cross-sectional study. Participants : Thirty-four children with unilateral cleft lip and palate and 35 children without cleft palate, matched for gender and age. 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 International Phonetic Alphabet and an individual consonant inventory was established for each participant. The video recordings were also analyzed with respect to word productions, establishing an observed productive vocabulary size for each participant. Results : At 18 months of age Danish children 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 with cleft palate was almost perfectly reflected in their early lexicon at 18 months. The early lexicon of children with cleft palate differed from the early lexicon of their noncleft peers. Conclusions and Implications : Danish toddlers with cleft palate display lexical selectivity in the early lexicon as it has been described for English-speaking toddlers with and without cleft palate, even though some qualitative differences were found.

  20. Cleft palate in a male water buffalo calf.

    PubMed

    Mazaheri, Y; Ranjbar, R; Ghadiri, A R; Afsahr, F Saberi; Nejad, S Goorani; Mahabady, M Khaksary; Afrough, M; Karampoor, R; Tavakoli, A

    2007-12-15

    Congenital palatal defects are common in animals but there is only one report of water buffalo has been recorded in Iran. One died male water buffalo calf was examined after hysterotomy operation. At necropsy findings, brachygnathia, palate cleft and small lungs were diagnosed. It is the second report of water buffalo cleft palate in Iran.

  1. Severe facial clefting in Insig-deficient mouse embryos caused by sterol accumulation and reversed by lovastatin

    PubMed Central

    Engelking, Luke J.; Evers, Bret M.; Richardson, James A.; Goldstein, Joseph L.; Brown, Michael S.; Liang, Guosheng

    2006-01-01

    Insig-1 and Insig-2 are regulatory proteins that restrict the cholesterol biosynthetic pathway by preventing proteolytic activation of SREBPs and by enhancing degradation of HMG-CoA reductase. Here, we created Insig–double-knockout (Insig-DKO) mice that are homozygous for null mutations in Insig-1 and Insig-2. After 18.5 days of development, 96% of Insig-DKO embryos had defects in midline facial development, ranging from cleft palate (52%) to complete cleft face (44%). Middle and inner ear structures were abnormal, but teeth and skeletons were normal. The animals were lethargic and runted; they died within 1 day of birth. The livers and heads of Insig-DKO embryos overproduced sterols, causing a marked buildup of sterol intermediates. Treatment of pregnant mice with the HMG-CoA reductase inhibitor lovastatin reduced sterol synthesis in Insig-DKO embryos and reduced the pre-cholesterol intermediates. This treatment ameliorated the clefting syndrome so that 54% of Insig-DKO mice had normal faces, and only 7% had cleft faces. We conclude that buildup of pre-cholesterol sterol intermediates interferes with midline fusion of facial structures in mice. These findings have implications for the pathogenesis of the cleft palate component of Smith-Lemli-Opitz syndrome and other human malformation syndromes in which mutations in enzymes catalyzing steps in cholesterol biosynthesis produce a buildup of sterol intermediates. PMID:16955138

  2. The caries prevalence of oral clefts in eastern China

    PubMed Central

    Xiao, Wen-Lin; Zhang, Dai-Zun; Xu, Yao-Xiang

    2015-01-01

    Little information is available concerning the prevalence of caries among patients with oral clefts in Eastern China. Consecutive patients aged 6-18 with oral clefts were recruited. Patients were stratified into 2 groups according to their ages, namely Group I with aged 6-12 and Group II with aged 13-18. For each age group, the children were further divided into three subgroups according to the types of oral clefts they had: cleft lip/cleft lip and alveolus (CL), cleft palate only (CP), and cleft lip and palate (CLP). Dental caries were examined by using the decayed, missing, and filled index for primary teeth (dmft) and Decay, Missing and Filled index for Permanent teeth (DMFT) according to criteria of the World Health Organization. 268 eligible patients with oral clefts were included in the study. The mean DMFT for Group I was 1.77 (SD2.58) while that for Group II was 6.96 (SD4.35). The mean DMFT was statistically significant different between the age group I and age group II (t=12.21, P<0.05). In Group I, the dmft scores was 4.68 (SD3.67) for CL group, while that for the CP group was 7.36 (SD3.93), and that for the CLP group was 5.72 (SD 3.87). The mean dmft was no statistically significant different among cleft types (F=3.13, P>0.05). Also in Group I, the mean DMFT was 1.56 (SD2.18) for CL group, while that for the CP group was 1.24 (SD 1.81) and that for the CLP group was 2.08 (SD2.96). There were no statistically significant different in mean DMFT among different cleft types (F=1.09, P>0.05). In Group II, the mean DMFT was 6.06 (SD3.97) for CL group while that for the CP group was 7.71 (SD 4.94) and that for the CLP group was 7.05 (SD4.32). No significant difference was shown in the mean DMFT among different cleft groups (CL, CP, and CLP) (F=0.55, P>0.05). During assess the prevalence of dental caries among Eastern Chinese with oral clefts; the study confirmed that the prevalence of caries was increased with increasing age for oral clefts patients. It was

  3. Malonylcarnitine in Newborns with Non-syndromic Cleft Lip with or without Cleft Palate

    PubMed Central

    Hozyasz, Kamil Konrad; Oltarzewski, Mariusz; Dudkiewicz, Zofia

    2010-01-01

    Aim Malonyl-CoA is regarded as a key signaling molecule in mammalian cells. It is converted to acetyl-CoA, and to a lesser extent, to malonyl acid and malonylcarnitine (C3DC). Availability of carnitine has been reported to be essential for the developing fetus. The objectives of the present study were to analyze associations of malonylcarnitine, acetylcarnitine (C2), and free carnitine (C0) in subjects with orofacial clefts. Methodology We performed a retrospective analysis of carnitine concentration obtained from a newborn screening program carried out in our institution. Concentrations of whole blood malonylcarnitine, acetylcarnitine, and free carnitine were measured using tandem mass spectrometry. The study group consisted of 51 children with non-syndromic cleft lip with or without cleft palate. In total, 106 healthy children without congenital anomalies served as controls. Cut-off points were established using likelihood ratio values. Results The mean concentration of malonylcarnitine in the cleft group was lower than that of the control group, 0.048 μmol·L−1 vs. 0.058 μmol·L−1, respectively (P=0.009). In patients with orofacial cleft, low malonylcarnitine levels (≤0.047 μmol·L−1) were 1.7 times more predominant than in healthy individuals (P=0.03). The mean concentration of acetylcarnitine was also lower in affected newborns in comparison to controls, 33.8 μmol·L−1 vs. 37.8 μmol·L−1, respectively (P=0.026). After analysis of acetylcarnitine and free carnitine concentrations, the likelihood ratio test did not indicate valuable cut-off points. Conclusion The study provides initial data indicating a potential association between decreased malonylcarnitine and abnormal palatogenesis. PMID:21125791

  4. Ten-Year Cleft Surgery in Nepal: Achievements and Lessons Learned for Better Cleft Care Abroad

    PubMed Central

    Pape, Hans-Dieter; Koch, Heribert; Koller, Michael

    2016-01-01

    Background: Cleft lip and palate surgery abroad is devoid of global consensus regarding standards of therapy, follow-up, and outcome. Cleft surgery in Nepal during a 10-year sustained program provided the opportunity to inform on the need for such standards. Methods: Medical records were evaluated from the cleft clinic at Sushma Koirala Memorial Hospital, Sankhu, Kathmandu, Nepal, from 1997 to 2007. Four groups were identified for analysis: total cohort, total surgical cohort (TSC), primary program patients (PPP; patients had not been operated on before), and nonprimary program patients (non-PPP; patients operated on elsewhere before). Patient demographics, diagnostic, primary and secondary surgery (corrective surgery), and follow-up were evaluated. Results: One thousand forty-five patients were eligible for surgery. Three hundred twenty-three of 1,045 patients (30.9%) did not seek treatment, although scheduled for surgery. One thousand two hundred one procedures were performed in 722 patients [TSC; 845 PPP (70.4%); 356 non-PPP (29.64%)]. Corrective procedures were performed in 257 of 1,201 [3.5% (30 of 845 procedures in 509 patients) PPP vs 63.7% (227 of 356 procedures in 213 patients) non-PPP]. One hundred six lips were completely reoperated on (1 PPP vs 105 non-PPP), and 42 palates underwent a total revision (5 PPP vs 37 non-PPP). The surgical outcome of the TSC group in terms of complication rate was similar to the one in developed countries. Conclusions: The high rate of corrective surgery reveals the need for global regulatory mechanisms and the need for nongovernmental organizations to introduce strategies for delivering sustained cleft care until achieving full rehabilitation. The World Health Organization should establish standards for cleft care delivered in less developed countries. PMID:27579235

  5. Epidemiologic Research on Malformations Associated with Cleft Lip and Cleft Palate in Japan.

    PubMed

    Koga, Hiroshi; Iida, Koichi; Maeda, Tomoki; Takahashi, Mizuho; Fukushima, Naoki; Goshi, Terufumi

    2016-01-01

    To investigate malformations associated with cleft lip and cleft palate, we conducted surveys at neonatal intensive care units (NICUs) and other non-NICU facilities and to determine whether there are differences among facilities. The regional survey investigated NICU facilities located in Oita Prefecture, including 92 patients with cleft lip and palate (CLP) or cleft palate (CP) that occurred between 2004 and 2013, and the national survey investigated oral surgery, plastic surgery, and obstetrics and gynecology facilities located in Japan, including 16,452 patients with cleft lip (CL), CLP, or CP that occurred since 2000. The incidence per 10,000 births was 4.2, 6.2, and 2.8 for CL, CLP, and CP, respectively, according to the national survey, and 6.3 and 2.9 for CLP and CP, respectively according to the regional survey. These results indicated comparable incidences between the two surveys. In contrast, when the survey results on malformations associated with CLP and CP according to the ICD-10 classification were compared between the national survey conducted at oral surgery or plastic surgery facilities and the regional survey conducted at NICU facilities, the occurrence of associated malformations was 19.8% vs. 41.3% for any types of associated malformation, 6.8% vs. 21.7% for congenital heart disease, and 0.5% vs. 16.3% for chromosomal abnormalities. These results indicated that the incidences of all of these associated malformations were significantly greater in the survey conducted at NICU facilities and similar to the findings from international epidemiological surveys. When comparing the survey conducted at obstetrics facilities vs. NICU facilities, the occurrence of associated malformations was similar results as above. The incidence of CLP and CP was not different between surveys conducted at NICU facilities vs. non-NICU facilities; however, when conducting surveys on associated malformations, it is possible to obtain accurate epidemiological data by

  6. Epidemiologic Research on Malformations Associated with Cleft Lip and Cleft Palate in Japan

    PubMed Central

    Koga, Hiroshi; Iida, Koichi; Maeda, Tomoki; Takahashi, Mizuho; Fukushima, Naoki; Goshi, Terufumi

    2016-01-01

    To investigate malformations associated with cleft lip and cleft palate, we conducted surveys at neonatal intensive care units (NICUs) and other non-NICU facilities and to determine whether there are differences among facilities. The regional survey investigated NICU facilities located in Oita Prefecture, including 92 patients with cleft lip and palate (CLP) or cleft palate (CP) that occurred between 2004 and 2013, and the national survey investigated oral surgery, plastic surgery, and obstetrics and gynecology facilities located in Japan, including 16,452 patients with cleft lip (CL), CLP, or CP that occurred since 2000. The incidence per 10,000 births was 4.2, 6.2, and 2.8 for CL, CLP, and CP, respectively, according to the national survey, and 6.3 and 2.9 for CLP and CP, respectively according to the regional survey. These results indicated comparable incidences between the two surveys. In contrast, when the survey results on malformations associated with CLP and CP according to the ICD-10 classification were compared between the national survey conducted at oral surgery or plastic surgery facilities and the regional survey conducted at NICU facilities, the occurrence of associated malformations was 19.8% vs. 41.3% for any types of associated malformation, 6.8% vs. 21.7% for congenital heart disease, and 0.5% vs. 16.3% for chromosomal abnormalities. These results indicated that the incidences of all of these associated malformations were significantly greater in the survey conducted at NICU facilities and similar to the findings from international epidemiological surveys. When comparing the survey conducted at obstetrics facilities vs. NICU facilities, the occurrence of associated malformations was similar results as above. The incidence of CLP and CP was not different between surveys conducted at NICU facilities vs. non-NICU facilities; however, when conducting surveys on associated malformations, it is possible to obtain accurate epidemiological data by

  7. The Repair of International Clefts in the Current Surgical Landscape.

    PubMed

    Persing, Sarah; Patel, Anup; Clune, James E; Steinbacher, Derek M; Persing, John A

    2015-06-01

    Cleft lip and palate (CLP) constitute a significant global disease burden. There are two general models that exist to deliver cleft care: surgical missions and comprehensive cleft centers (CCC). While surgical missions offer high quality surgical care to patients who would be unlikely to ever receive treatment, they may fail to provide sustainable solutions. The development of CCC is growing in popularity worldwide. CCC are permanent centers that offer a multidisciplinary team approach to the treatment of cleft lip and palate. Operation Smile has adopted the concept of specialized surgical care centers. These centers are shown to be safe, cost-effective, and provide sustainable solutions for cleft care. The authors discuss some of the benefits and drawbacks of the classic mission-based model and highlight why there may be a paradigm shift towards CCC. PMID:26080140

  8. Spectrographic analysis of pain cry in neonates with cleft palate.

    PubMed

    Michelsson, K; Sirviö, P; Koivisto, M; Sovijärvi, A; Wasz-Höckert, O

    1975-01-01

    52 phonations of 13 cleft palate neonates were analyzed by sound spectrographic methods. 17 phonetical attributes were included in the study and the first signal after the pain stimulus was analyzed. The cries of the cleft palate infants were compared with the crying of 75 normal babies of the same age. No change in the fundamental frequency, melody type and duration of the cries was seen in association with these anatomical defects. Two of the characteristics studied, vibrato and the 'tonal pit', occurred significantly more often in cries of the cleft palate infants than in cries of the control series. The changes in the qualities seen in association with cleft palate and/or cleft lip do not mimic the abnormalities produced by brain damage.

  9. Protocols in Cleft Lip and Palate Treatment: Systematic Review

    PubMed Central

    de Ladeira, Pedro Ribeiro Soares; Alonso, Nivaldo

    2012-01-01

    Objectives. To find clinical decisions on cleft treatment based on randomized controlled trials (RCTs). Method. Searches were made in PubMed, Embase, and Cochrane Library on cleft lip and/or palate. From the 170 articles found in the searches, 28 were considered adequate to guide clinical practice. Results. A scarce number of RCTs were found approaching cleft treatment. The experimental clinical approaches analyzed in the 28 articles were infant orthopedics, rectal acetaminophen, palatal block with bupivacaine, infraorbital nerve block with bupivacaine, osteogenesis distraction, intravenous dexamethasone sodium phosphate, and alveoloplasty with bone morphogenetic protein-2 (BMP-2). Conclusions. Few randomized controlled trials were found approaching cleft treatment, and fewer related to surgical repair of this deformity. So there is a need for more multicenter collaborations, mainly on surgical area, to reduce the variety of treatment modalities and to ensure that the cleft patient receives an evidence-based clinical practice. PMID:23213503

  10. Recent cusp and cleft results from interball

    NASA Astrophysics Data System (ADS)

    Sandahl, Ingrid

    The Interball project has given important contributions to our understanding of the morphology and the physical processes in the cusp and cleft. Interball Tail and Magion-4 have performed more extensive measurements in the high altitude cusp than any previous spacecraft. Interball has also been a part in the ISTP program and data have been used in many multipoint studies. In this paper recent cusp and cleft studies based entirely or partly on Interball data will be reviewed. Interball data show that processes at high latitudes are very important for plasma entry into the magnetosphere. A case study for southward IMF conditions agrees with a model in which the mantle is populated via entry along open high-latitude field lines. A statistical study of events dominated by IMF B y shows that merging in anti-parallel fields, rather than subsolar point reconnection, populates the mantle. Plasma entry also takes place through the turbulent boundary layer, TBL, a region of strong, Alfvenic ULF turbulence above the cusp and cleft. The TBL is almost always present. It extends tailward from the cusp and is proposed to be related to the magnetospheric sash. For the overall magnetosheath plasma entry into the magnetosphere the magnetotail boundary is probably more important than the cusp. The position of the cusp is controlled by the solar wind in a similar way as the low altitude cusp. The mid-altitude cusp was found to maintain its fine structure over periods of the order of one hour. A suprathermal proton population not previously described has been detected in the mid-altitude cusp.

  11. Recent trends in pediatric Haemophilus influenzae type B infections in Canada. Immunization Monitoring Program, Active (IMPACT) of the Canadian Paediatric Society and the Laboratory Centre for Disease Control.

    PubMed Central

    Scheifele, D W

    1996-01-01

    OBJECTIVE: To describe changes in the number of cases of Haemophilus influenzae type b (Hib) infections among Canadian children before and after the introductory phases of Hib vaccination. DESIGN: Multicentre case series. SETTING: All 10 pediatric tertiary care centres across Canada participating in the Immunization Monitoring Program, Active (IMPACT) of the Canadian Paediatric Society and the Laboratory Centre for Disease control. PATIENTS: Children with a Hib infection admitted to any of the participating hospitals from 1985 to 1994. Annual case totals from 1985 to 1990 were determined from records of hospital laboratories or coded discharge diagnoses, or both. From 1991 to 1994 intensive case surveillance was conducted on the wards in addition to thorough record searches as above. OUTCOME MEASURES: Estimated annual case totals for 1985-90. For 1991-94 intensive surveillance for quarterly case totals, yearly age distribution of cases, and proportion of recent cases that represent vaccination failures or missed opportunities to prevent infection. RESULTS: The total number of Hib cases from 1985 to 1990 was 2095; from 1991 to 1994, there were 326 laboratory-confirmed cases and 15 probably cases supported by Hib antigen detection. The annual number of cases declined from an estimated 485 in 1985 to 24 in 1994, a decrease of 95.1%. The steepest interannual decrease (63.7%) occurred between 1992 and 1993, following the introduction of infant-based vaccination programs across Canada. The number of Hib cases involving children most at risk (those 6 to 18 months old) decreased from 78 in 1991 to 4 in 1994. Of the 24 cases in 1994, 6 were categorized as preventable, 1 was fatal, and 8 were vaccine failures (2 of which involved currently used vaccines). CONCLUSION: The prevalence of Hib infections reported by the IMPACT centres has declined greatly since the introduction of vaccination programs. However, deaths and complications continue to occur, attesting to the need to

  12. Genetics of Cleft Palate and Velopharyngeal Insufficiency.

    PubMed

    Sweeney, Walter M; Lanier, Steve T; Purnell, Chad A; Gosain, Arun K

    2015-03-01

    Velopharyngeal insufficiency (VPI) can occur in the setting of an unrepaired or repaired cleft lip and palate. The rate of VPI has been documented as high as 33% in some studies with higher rates of recurrences following surgery associated with genetic syndromes such as 22q11.2 deletions. The primary cause of VPI in these groups is still identified as the anatomic abnormalities of the velum. In this review, the anatomy and physiology of the velum are discussed along with genetic mutations associated with VPI. PMID:27617110

  13. Cleft Lip Repair: The Hybrid Subunit Method.

    PubMed

    Tollefson, Travis T

    2016-04-01

    The unilateral cleft lip repair is one of the most rewarding and challenging of plastic surgery procedures. Surgeons have introduced a variety of straight line, geometric, and rotation-advancement designs, while in practice the majority of North American surgeons have been using hybrids of the rotation-advancement techniques. The anatomic subunit approach was introduced in 2005 by Fisher and has gained popularity, with early adopters of the design touting its simplicity and effectiveness. The objectives of this article are to summarize the basic tenets of respecting the philtral subunit, accurate measurement and planning, and tips for transitioning to this subunit approach.

  14. Cleft Lip Repair: The Hybrid Subunit Method.

    PubMed

    Tollefson, Travis T

    2016-04-01

    The unilateral cleft lip repair is one of the most rewarding and challenging of plastic surgery procedures. Surgeons have introduced a variety of straight line, geometric, and rotation-advancement designs, while in practice the majority of North American surgeons have been using hybrids of the rotation-advancement techniques. The anatomic subunit approach was introduced in 2005 by Fisher and has gained popularity, with early adopters of the design touting its simplicity and effectiveness. The objectives of this article are to summarize the basic tenets of respecting the philtral subunit, accurate measurement and planning, and tips for transitioning to this subunit approach. PMID:27097136

  15. Genetics of Cleft Palate and Velopharyngeal Insufficiency

    PubMed Central

    Sweeney, Walter M.; Lanier, Steve T.; Purnell, Chad A.; Gosain, Arun K.

    2015-01-01

    Velopharyngeal insufficiency (VPI) can occur in the setting of an unrepaired or repaired cleft lip and palate. The rate of VPI has been documented as high as 33% in some studies with higher rates of recurrences following surgery associated with genetic syndromes such as 22q11.2 deletions. The primary cause of VPI in these groups is still identified as the anatomic abnormalities of the velum. In this review, the anatomy and physiology of the velum are discussed along with genetic mutations associated with VPI. PMID:27617110

  16. Genetics of Cleft Palate and Velopharyngeal Insufficiency

    PubMed Central

    Sweeney, Walter M.; Lanier, Steve T.; Purnell, Chad A.; Gosain, Arun K.

    2015-01-01

    Velopharyngeal insufficiency (VPI) can occur in the setting of an unrepaired or repaired cleft lip and palate. The rate of VPI has been documented as high as 33% in some studies with higher rates of recurrences following surgery associated with genetic syndromes such as 22q11.2 deletions. The primary cause of VPI in these groups is still identified as the anatomic abnormalities of the velum. In this review, the anatomy and physiology of the velum are discussed along with genetic mutations associated with VPI.

  17. Classification, epidemiology, and genetics of orofacial clefts.

    PubMed

    Watkins, Stephanie E; Meyer, Robert E; Strauss, Ronald P; Aylsworth, Arthur S

    2014-04-01

    Orofacial clefts (OFCs) include a broad range of facial conditions that differ in cause and disease burden. In the published literature, there is substantial ambiguity in both terminology and classification of OFCs. This article discusses the terminology and classification of OFCs and the epidemiology of OFCs. Demographic, environmental, and genetic risk factors for OFCs are described, including suggestions for family counseling. This article enables clinicians to counsel families regarding the occurrence and recurrence of OFCs. Although much of the information is detailed, it is intended to be accessible to all health professionals for use in their clinical practices.

  18. [Cleft lip and palate--prenatal diagnosis and counseling].

    PubMed

    Hrusková, H; Calda, P; Zizka, Z; Krofta, L; Baxová, A; Zidovská, J; Kapras, J; Zivný, J

    1998-10-01

    The most frequent congenital developmental defect in the orofacial region are, no doubt, facial clefts which are a serious stress for health professionals and the population. Depending on the type of cleft, the prevalence is between 1 : 1000-2800 births. According to contemporary views in the etiology of orofacial clefts participate genetic as well as environmental factors. That means that specific genetic factors create a certain "sensitivity" for specific factors of the external environment which act as a trigger mechanism and combined they produce the cleft. Cleft lip can be diagnosed already during the 13th week of gestation, while a cleft palate is not necessarily apparent till after the 18th week of gestation as the maxilla is in the process of joining. Presentation of the foetal face and its profile is thus important in particular during the second trimester of gestation and should be part of ultrasonographic screening between the 18th and 20th week of gestation. As more than 8% of facial clefts are associated with chromosomal abnormalities, in all affected foetuses karyotyping is done. The prognosis of satisfactory cosmetic and functional repair in cleft lip and in cleft lip and palate is favourable. In case of associated malformations all depends on the type and severity of these associated defects or on the diagnosis of the syndrome. If median clefts are extensive or associated with cerebral anomalies, the prognosis is as a rule poor. Prenatal diagnosis and management of defects of the orofacial area calls for collaboration of the obstetrician, neonatologist and plastic surgeon already in the stage when the defect is detected to give the expectant mother an opportunity to obtain accurate and unbiased information on possible treatment and prognosis for the foetus. PMID:9818495

  19. Presurgical nasoalveolar moulding in unilateral cleft lip and palate

    PubMed Central

    Zuhaib, Mohammed; Bonanthaya, Krishnamurthy; Parmar, Renu; Shetty, Pritham N.; Sharma, Pradeep

    2016-01-01

    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 efficacy 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, significant 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 closure in unilateral

  20. Clefting and psychosocial adjustment. Influence of facial aesthetics.

    PubMed

    Tobiasen, J M; Hiebert, J M

    1993-10-01

    This article briefly reviewed the research literature on the psychosocial correlates of facial clefts and described a program of research to study the relationship between severity of cleft impairment and psychosocial adjustment. In the past 40 years, there has been increasing recognition and research literature on the psychologic implications of facial clefts to patients and their families. Advances in both the knowledge base and the science of the psychologic correlates of facial clefts have been made. Children with clefts are not at greater risk for psychopathology than are individuals without clefts; however, they are at significant risk for social competence problems relating to development of friendships, progress in school, and participation in organizations. Problems with social competence have a negative effect on development. The ability of all children to make friends and to be liked by others is considered by most parents, teachers, and child development specialists to be a major developmental milestone. Not having friends and social withdrawal can cause parents or teachers to refer noncleft children to mental health professionals and is a predictor of impaired adult social competence and mental health. Studies of adults with clefts are consistent with studies of adults without clefts. Adults with repaired clefts are less likely to marry than are their noncleft siblings, and they have more problems with social withdrawal. Because facial attractiveness is well-known to affect peer acceptance, we hypothesized that the severity of the cleft deformity may have a significant impact on social competence. Consequently, we undertook a program of research to examine this question.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:8275628

  1. Science Learning Centres Roundup

    ERIC Educational Resources Information Center

    Education in Science, 2010

    2010-01-01

    The national network of Science Learning Centres aims to raise the quality of science teaching from Key Stage 1 through post-16 (ages 5-19). Short courses are provided locally through the regional Science Learning Centres and longer, more intensive programmes are available at the National Science Learning Centre in York. There are a growing number…

  2. Clinical photography among African cleft caregivers

    PubMed Central

    Olaitan, Peter Babatunde; Oseni, Ganiyu Oladiran

    2011-01-01

    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. PMID:22279284

  3. Secondary repair of cleft lip deformity.

    PubMed

    Tessier, P; Tulasne, J F

    1984-10-01

    A considerable number of procedures have been described for secondary improvements of the lip. They involve the scars, the Cupid's bow, the philtrum, the alar base, the vestibulum and the columella. In fact, these procedures may give a good aesthetic result in a static position, but the truly successful results occur with normal movements. A normal motion of the lip is impossible without a proper dissection and reorientation of the muscles. Satisfactory lip motion cannot be realized with a defective alveolus or piriform aperture that retracts the alar base. Consequently, a good lip or nasal base cannot be achieved without bony restoration of the alveolus and piriform aperture. A transversely short lip never has normal mobility, and it must be widened by an Abbé flap. A tight, retruded lip on a retruded maxilla cannot be improved by a prosthetic vestibular plate because a greater tension will restrict movements. The lip must be advanced with the maxilla, then widened if necessary by an Abbé flap. A thick prolapsed lip never has normal movement; it must be raised by an infranasal excision. A cleft lip has nothing to gain from being displayed under a short nose, or, still worse, under a upturned nose. The nose must be kept long enough to cast a shadow on the lip. For the same reason, a bone graft is often necessary in bilateral clefts because the nose is short and retruded.

  4. Factors that Limit and Enable Preschool-Aged Children's Physical Activity on Child Care Centre Playgrounds

    ERIC Educational Resources Information Center

    Coleman, Bianca; Dyment, Janet E.

    2013-01-01

    The incidence of childhood obesity amongst preschool-aged children has increased dramatically in recent years and can be attributed, in part, to a lack of physical activity amongst children in this age group. This study explores the social factors that stand to limit and/or enable children's physical activity opportunities in outdoor settings…

  5. Effect of Child Centred Methods on Teaching and Learning of Science Activities in Pre-Schools in Kenya

    ERIC Educational Resources Information Center

    Andiema, Nelly C.

    2016-01-01

    Despite many research studies showing the effectiveness of teacher application of child-centered learning in different educational settings, few studies have focused on teaching and learning activities in Pre-Schools. This research investigates the effect of child centered methods on teaching and learning of science activities in preschools in…

  6. Novel Cleft Susceptibility Genes in Chromosome 6q

    PubMed Central

    Letra, A.; Menezes, R.; Fonseca, R.F.; Govil, M.; McHenry, T.; Murphy, M.J.; Hennebold, J.D.; Granjeiro, J.M.; Castilla, E.E.; Orioli, I.M.; Martin, R.; Marazita, M.L.; Bjork, B.C.; Vieira, A.R.

    2010-01-01

    Cleft lip/palate is a defect of craniofacial development. In previous reports, chromosome 6q has been suggested as a candidate region for cleft lip/palate. A multipoint posterior probability of linkage analysis of multiplex families from the Philippines attributed an 88% probability of harboring a cleft-susceptibility gene to a narrower region on bands 6q14.2-14.3. We genotyped 2732 individuals from families and unrelated individuals with and without clefts to investigate the existence of possible cleft-susceptibility genes in this region. We found association of PRSS35 and SNAP91 genes with cleft lip/palate in the case-control cohort and in Caucasian families. Haplotype analyses support the individual associations with PRSS35. We found Prss35 expression in the head and palate of mouse embryos at critical stages for palatogenesis, whereas Snap91 was expressed in the adult brain. We provide further evidence of the involvement of chromosome 6q in cleft lip/palate and suggest PRSS35 as a novel candidate gene. PMID:20511563

  7. Unfavourable results in the repair of the cleft lip

    PubMed Central

    Narayanan, Puthucode V.; Adenwalla, Hirji Sorab

    2013-01-01

    Introduction: Unfavorable results in unilateral and bilateral cleft lip repair are often easy to spot but not always easy to prevent as to treat. We have tried to deal with the more common problems and explain possible causes and the best possible management options from our experience. Unilateral cleft lip repair: Unfavorable results immediately after repair involve Dehiscence and Scaring. Delayed blemishes include vermillion notching, a short lip, deficiency in the height of the lateral vermillion on the cleft side, white roll malalignment, oro-vestibular fistula, the cleft lip nose deformity, a narrow nostril and a “high-riding” nostril. We analyze the causes of these blemishes and outline our views regarding the treatment of these. Bilateral cleft lip: Immediate problems again include dehiscence as also loss of prolabium or premaxilla. Delayed unfavorable results are central vermillion deficiency, a lip that is too tight, bilateral cleft lip nose deformity, problems with the premaxilla and maxillary growth disturbances. Here again we discuss the causation of these problems and our preferred methods of treatment. Conclusion: We have detailed the significant unfavorable results after unilateral and bilateral cleft lip surgery. The methods of treatment advocated have been layer from our own experience. PMID:24501453

  8. Cleft palate cells can regenerate a palatal mucosa in vitro.

    PubMed

    Liu, J; Lamme, E N; Steegers-Theunissen, R P M; Krapels, I P C; Bian, Z; Marres, H; Spauwen, P H M; Kuijpers-Jagtman, A M; Von den Hoff, J W

    2008-08-01

    Cleft palate repair leaves full-thickness mucosal defects on the palate. Healing might be improved by implantation of a mucosal substitute. However, the genetic and phenotypic deviations of cleft palate cells may hamper tissue engineering. The aim of this study was to construct mucosal substitutes from cleft palate cells, and to compare these with substitutes from normal palatal cells, and with native palatal mucosa. Biopsies from the palatal mucosa of eight children with cleft palate and eight age-matched control individuals were taken. Three biopsies of both groups were processed for (immuno)histochemistry; 5 were used to culture mucosal substitutes. Histology showed that the substitutes from cleft-palate and non-cleft-palate cells were comparable, but the number of cell layers was less than in native palatal mucosa. All epithelial layers in native palatal mucosa and mucosal substitutes expressed the cytokeratins 5, 10, and 16, and the proliferation marker Ki67. Heparan sulphate and decorin were present in the basal membrane and the underlying connective tissue, respectively. We conclude that mucosal cells from children with cleft palate can regenerate an oral mucosa in vitro. PMID:18650554

  9. Measuring hospital-wide activity volume for patient safety and infection control: a multi-centre study in Japan

    PubMed Central

    Hayashida, Kenshi; Imanaka, Yuichi; Fukuda, Haruhisa

    2007-01-01

    Background In Japan, as in many other countries, several quality and safety assurance measures have been implemented since the 1990's. This has occurred in spite of cost containment efforts. Although government and hospital decision-makers demand comprehensive analysis of these activities at the hospital-wide level, there have been few studies that actually quantify them. Therefore, the aims of this study were to measure hospital-wide activities for patient safety and infection control through a systematic framework, and to identify the incremental volume of these activities implemented over the last five years. Methods Using the conceptual framework of incremental activity corresponding to incremental cost, we defined the scope of patient safety and infection control activities. We then drafted a questionnaire to analyze these realms. After implementing the questionnaire, we conducted several in-person interviews with managers and other staff in charge of patient safety and infection control in seven acute care teaching hospitals in Japan. Results At most hospitals, nurses and clerical employees acted as the main figures in patient safety practices. The annual amount of activity ranged from 14,557 to 72,996 person-hours (per 100 beds: 6,240; per 100 staff: 3,323) across participant hospitals. Pharmacists performed more incremental activities than their proportional share. With respect to infection control activities, the annual volume ranged from 3,015 to 12,196 person-hours (per 100 beds: 1,141; per 100 staff: 613). For infection control, medical doctors and nurses tended to perform somewhat more of the duties relative to their share. Conclusion We developed a systematic framework to quantify hospital-wide activities for patient safety and infection control. We also assessed the incremental volume of these activities in Japanese hospitals under the reimbursement containment policy. Government and hospital decision makers can benefit from this type of analytic

  10. Clinical Features and Management of a Median Cleft Lip

    PubMed Central

    Kim, Do Yeon; Oh, Tae Suk

    2016-01-01

    Background Median cleft lip is a rare anomaly consisting of a midline vertical cleft through the upper lip. It can also involve the premaxillary bone, the nasal septum, and the central nervous system. In our current report, we present the clinical features of 6 patients with a median cleft lip and their surgical management according to the accompanying anomalies. Methods From December 2010 to January 2014, 6 patients with a median cleft lip were reviewed. Five of these cases underwent surgical correction; alveolar bone grafting was performed in a patient with a median alveolar cleft. The surgical technique included inverted-U excision of the upper lip and repair of the orbicularis oris muscle. The mean follow-up period was 20.4 months (range, 7.4–44.0 months). Results The study patients presented various anomalous features. Five patients received surgical correction, 4 with repair of the median cleft lip, and one with iliac bone grafting for median alveolar cleft. A patient with basal sphenoethmoidal meningocele was managed with transoral endoscopic surgery for repair of the meningocele. Successful surgical repair was achieved in all cases with no postoperative complications. Conclusions Relatively mild forms of median cleft lip can be corrected with inverted-U excision with good aesthetic outcomes. In addition, there is a broad spectrum of clinical features and various anomalies, such as nasal deformity, alveolar cleft, and short upper frenulum, which require close evaluation. The timing of the operation should be decided considering the presence of other anomalies that can threaten patient survival. PMID:27218021

  11. In vitro activity of ceftolozane/tazobactam against clinical isolates of Pseudomonas aeruginosa and Enterobacteriaceae recovered in Spanish medical centres: Results of the CENIT study.

    PubMed

    Tato, Marta; García-Castillo, María; Bofarull, Ana Moreno; Cantón, Rafael

    2015-11-01

    Ceftolozane/tazobactam is a novel antimicrobial agent with activity against Pseudomonas aeruginosa, including drug-resistant strains, and other Gram-negative pathogens, including most extended-spectrum β-lactamase (ESBL)-producing Enterobacteriaceae. The CENIT study evaluated the in vitro activity of ceftolozane/tazobactam and comparators against clinical isolates of P. aeruginosa (n=500) and Enterobacteriaceae (n=500) collected from patients with complicated intra-abdominal, complicated urinary tract, lower respiratory tract or bloodstream infections in 10 medical centres in Spain (January-September 2013). Antimicrobial susceptibility was determined by the ISO broth microdilution method using commercial dry-form panels and results were interpreted per EUCAST and CLSI guidelines and for ceftolozane/tazobactam with FDA criteria. Ceftolozane/tazobactam and ceftolozane alone were the most potent (MIC(50/90), 0.5/4 mg/L) agents tested against all P. aeruginosa isolates. This advantage was maintained regardless of resistance phenotype, even against isolates resistant to multiple antibiotics. Ceftolozane/tazobactam demonstrated excellent overall activity (MIC50/90, 0.25/0.5 mg/L) against all 250 Escherichia coli isolates, including isolates displaying a wild-type (MIC(90), 0.25/0.25 mg/L) or ESBL (MIC(50/90), 0.5/1mg/L) phenotype, and good activity against isolates displaying an AmpC-like phenotype (MIC range 0.25-4 mg/L). Ceftolozane/tazobactam demonstrated good overall activity (MIC(50/90), 0.25/4 mg/L) against all 104 Klebsiella spp. isolates, although activity was lower against those with an ESBL phenotype (MIC(50/90), 4/16 mg/L), and was inactive against the carbapenemase-producing isolates (MIC≥64 mg/L). Ceftolozane/tazobactam demonstrated excellent in vitro activity against most of the P. aeruginosa and Enterobacteriaceae clinical isolates obtained from medical centres in Spain, supporting the potential value of ceftolozane/tazobactam in treating infections due

  12. In vitro activity of ceftolozane/tazobactam against clinical isolates of Pseudomonas aeruginosa and Enterobacteriaceae recovered in Spanish medical centres: Results of the CENIT study.

    PubMed

    Tato, Marta; García-Castillo, María; Bofarull, Ana Moreno; Cantón, Rafael

    2015-11-01

    Ceftolozane/tazobactam is a novel antimicrobial agent with activity against Pseudomonas aeruginosa, including drug-resistant strains, and other Gram-negative pathogens, including most extended-spectrum β-lactamase (ESBL)-producing Enterobacteriaceae. The CENIT study evaluated the in vitro activity of ceftolozane/tazobactam and comparators against clinical isolates of P. aeruginosa (n=500) and Enterobacteriaceae (n=500) collected from patients with complicated intra-abdominal, complicated urinary tract, lower respiratory tract or bloodstream infections in 10 medical centres in Spain (January-September 2013). Antimicrobial susceptibility was determined by the ISO broth microdilution method using commercial dry-form panels and results were interpreted per EUCAST and CLSI guidelines and for ceftolozane/tazobactam with FDA criteria. Ceftolozane/tazobactam and ceftolozane alone were the most potent (MIC(50/90), 0.5/4 mg/L) agents tested against all P. aeruginosa isolates. This advantage was maintained regardless of resistance phenotype, even against isolates resistant to multiple antibiotics. Ceftolozane/tazobactam demonstrated excellent overall activity (MIC50/90, 0.25/0.5 mg/L) against all 250 Escherichia coli isolates, including isolates displaying a wild-type (MIC(90), 0.25/0.25 mg/L) or ESBL (MIC(50/90), 0.5/1mg/L) phenotype, and good activity against isolates displaying an AmpC-like phenotype (MIC range 0.25-4 mg/L). Ceftolozane/tazobactam demonstrated good overall activity (MIC(50/90), 0.25/4 mg/L) against all 104 Klebsiella spp. isolates, although activity was lower against those with an ESBL phenotype (MIC(50/90), 4/16 mg/L), and was inactive against the carbapenemase-producing isolates (MIC≥64 mg/L). Ceftolozane/tazobactam demonstrated excellent in vitro activity against most of the P. aeruginosa and Enterobacteriaceae clinical isolates obtained from medical centres in Spain, supporting the potential value of ceftolozane/tazobactam in treating infections due

  13. Global gene expression changes of in vitro stimulated human transformed germinal centre B cells as surrogate for oncogenic pathway activation in individual aggressive B cell lymphomas

    PubMed Central

    2012-01-01

    Background Aggressive Non-Hodgkin lymphomas (NHL) are a group of lymphomas derived from germinal centre B cells which display a heterogeneous pattern of oncogenic pathway activation. We postulate that specific immune response associated signalling, affecting gene transcription networks, may be associated with the activation of different oncogenic pathways in aggressive Non-Hodgkin lymphomas (NHL). Methodology The B cell receptor (BCR), CD40, B-cell activating factor (BAFF)-receptors and Interleukin (IL) 21 receptor and Toll like receptor 4 (TLR4) were stimulated in human transformed germinal centre B cells by treatment with anti IgM F(ab)2-fragments, CD40L, BAFF, IL21 and LPS respectively. The changes in gene expression following the activation of Jak/STAT, NF-кB, MAPK, Ca2+ and PI3K signalling triggered by these stimuli was assessed using microarray analysis. The expression of top 100 genes which had a change in gene expression following stimulation was investigated in gene expression profiles of patients with Aggressive non-Hodgkin Lymphoma (NHL). Results αIgM stimulation led to the largest number of changes in gene expression, affecting overall 6596 genes. While CD40L stimulation changed the expression of 1194 genes and IL21 stimulation affected 902 genes, only 283 and 129 genes were modulated by lipopolysaccharide or BAFF receptor stimulation, respectively. Interestingly, genes associated with a Burkitt-like phenotype, such as MYC, BCL6 or LEF1, were affected by αIgM. Unique and shared gene expression was delineated. NHL-patients were sorted according to their similarity in the expression of TOP100 affected genes to stimulated transformed germinal centre B cells The αIgM gene module discriminated individual DLBCL in a similar manner to CD40L or IL21 gene modules. DLBCLs with low module activation often carry chromosomal MYC aberrations. DLBCLs with high module activation show strong expression of genes involved in cell-cell communication, immune responses

  14. Retinoic acid alters the proliferation and survival of the epithelium and mesenchyme and suppresses Wnt/β-catenin signaling in developing cleft palate

    PubMed Central

    Hu, X; Gao, J; Liao, Y; Tang, S; Lu, F

    2013-01-01

    Retinoic acid (RA) contributes to cleft palate; however, the cellular and molecular mechanisms responsible for the deleterious effects on the developing palate are unclear. Wnt signaling is a candidate pathway in the cleft palate and is associated with RA in organ development; thus, we aim to investigate whether RA-induced cleft palate also results from altered Wnt signaling. Administration of RA to mice altered cell proliferation and apoptosis in craniofacial tissues by regulating molecules controlling cell cycle and p38 MAPK signaling, respectively. This altered cell fate by RA is a crucial mechanism contributing to 100% incidence of cleft palate. Moreover, Wnt/β-catenin signaling was completely inhibited by RA in the early developing palate via its binding and activation with RA receptor (RAR) and is responsible for RA-induced cleft palate. Furthermore, PI3K/Akt signaling was also involved in actions of RA. Our findings help in elucidating the mechanisms of RA-induced cleft palate. PMID:24176856

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

    SciTech Connect

    Amos, C.; Hecht, J.T.; Gasser, D.

    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.

  16. GeoMapApp Learning Activities: A Virtual Lab Environment for Student-Centred Engagement with Geoscience Data

    NASA Astrophysics Data System (ADS)

    Kluge, S.; Goodwillie, A. M.

    2012-12-01

    As STEM learning requirements enter the mainstream, there is benefit to providing the tools necessary for students to engage with research-quality geoscience data in a cutting-edge, easy-to-use map-based interface. Funded with an NSF GeoEd award, GeoMapApp Learning Activities ( http://serc.carleton.edu/geomapapp/collection.html ) are being created to help in that endeavour. GeoMapApp Learning Activities offer step-by-step instructions within a guided inquiry approach that enables students to dictate the pace of learning. Based upon GeoMapApp (http://www.geomapapp.org), a free, easy-to-use map-based data exploration and visualisation tool, each activity furnishes the educator with an efficient package of downloadable documents. This includes step-by-step student instructions and answer sheet; an educator's annotated worksheet containing teaching tips, additional content and suggestions for further work; and, quizzes for use before and after the activity to assess learning. Examples of activities so far created involve calculation and analysis of the rate of seafloor spreading; compilation of present-day evidence for huge ancient landslides on the seafloor around the Hawaiian islands; a study of radiometrically-dated volcanic rocks to help understand the concept of hotspots; and, the optimisation of contours as a means to aid visualisation of 3-D data sets on a computer screen. The activities are designed for students at the introductory undergraduate, community college and high school levels, and present a virtual lab-like environment to expose students to content and concepts typically found in those educational settings. The activities can be used in the classroom or out of class, and their guided nature means that the requirement for teacher intervention is reduced thus allowing students to spend more time analysing and understanding geoscience data, content and concepts. Each activity is freely available through the SERC-Carleton web site.

  17. Short-term low-dose secondary prophylaxis for severe/moderate haemophilia A children is beneficial to reduce bleed and improve daily activity, but there are obstacle in its execution: a multi-centre pilot study in China.

    PubMed

    Tang, L; Wu, R; Sun, J; Zhang, X; Feng, X; Zhang, X; Luke, K-H; Poon, M-C

    2013-01-01

    We recently showed in a single centre trial that low-dose secondary prophylaxis in severe/moderate haemophilia patients with arthropathy is feasible and beneficial. However, this regimen has not been validated in a multicentre setting and what obstacles are there to prophylaxis remain unclear. (i) Benefit study: to confirm the benefits of similar prophylaxis protocol in severe/moderate haemophilia A (HA) in a multicentre setting in China. (ii) Follow-up obstacle study: to investigate obstacles in compliance to prophylaxis treatment. (i) Benefit study: severe/moderate HA children with arthropathy from 15 centres were enrolled to undergo an 8-week on-demand treatment, followed by 6 to 12-week low-dose secondary prophylaxis. Outcomes compared in the two periods include joint and severe bleeding, daily activities and factor consumption. (ii) Obstacle study: questionnaires to investigators to collect data on patient and centre factors contributing to inability to comply with prophylaxis. We enrolled 191 patients from 15 centres. Sixty-six (34.6%) from three centres completed the prophylaxis protocol, and they had significantly decreased bleeding (78.8% haemarthrosis and 68.9% severe bleedings) and improved daily activities with no increase in factor consumption over that in the on-demand therapy period. The remaining 125 patients from 12 centres were not compliant to the prophylaxis protocol; questionnaire data indicated that the major obstacles were inability of patients/parents to accept (41.7%) or to adhere (33.3%) to the prophylaxis protocol, mostly because of failure to understand the benefits and to accept the frequent injections. Non-availability of a centre comprehensive care team was another important determinant. Short-term low-dose secondary prophylactic therapy is beneficial without increasing factors consumption for severe/moderate HA with arthropathy in a multi-centre setting in China. Obstacles to overcome must include improvement in comprehensive care

  18. Cortical Clefts and Cortical Bumps: A Continuous Spectrum

    PubMed Central

    Furruqh, Farha; Thirunavukarasu, Suresh; Vivekandan, Ravichandran

    2016-01-01

    Cortical ‘clefts’ (schizencephaly) and cortical ‘bumps’ (polymicrogyria) are malformations arising due to defects in postmigrational development of neurons. They are frequently encountered together, with schizencephalic clefts being lined by polymicrogyria. We present the case of an eight-year-old boy who presented with seizures. Imaging revealed closed lip schizencephaly, polymicrogyria and a deep ‘incomplete’ cleft lined by polymicrogyria not communicating with the lateral ventricle. We speculate that hypoperfusion or ischaemic cortical injury during neuronal development may lead to a spectrum of malformations ranging from polymicrogyria to incomplete cortical clefts to schizencephaly. PMID:27630923

  19. Vocalizations of toddlers with cleft lip and palate.

    PubMed

    Chapman, K L

    1991-04-01

    This study examined the early vocalizations of toddlers with cleft lip and palate. Ten toddlers, ranging in age from 12 to 14 months, served as subjects: five toddlers with cleft lip and palate and five noncleft toddlers. Samples of the toddler's spontaneous vocalizations were obtained while they interacted with their mothers during an unstructured play session. All speech-like vocalizations were transcribed, and comparisons were made between the cleft and noncleft groups for (1) size of consonant inventory, (2) type and frequency of occurrence of consonants, and (3) frequency and type of multisyllabic productions. Results indicated differences in the consonant inventories and multisyllabic productions of the two groups of toddlers.

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

    PubMed

    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.

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

    PubMed Central

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

    2016-01-01

    Objective: The study was conducted to examine the patients with abnormalities of cleft lip and/or palate and its association with different types of malocclusion. Materials and Methods: 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 < 0.05. Results: The study showed different categories of 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. Conclusion: 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. PMID:27195223

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

    PubMed Central

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

    2015-01-01

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

  3. The changes produced by presurgical orthopedic treatment of bilateral cleft lip and palate.

    PubMed

    Robertson, N; Shaw, W; Volp, C

    1977-01-01

    A serial cephalometric analysis (with the aid of metallic implants) and an analysis of the models of 10 children with complete bilateral clefts, who received presurgical orthopedic treatment, was done. It revealed that such therapy can successfully reduce the protrusive deformity of the premaxilla, when forward growth of this structure is restrained so as to allow the remainder of the face to "catch up." Our other observations include the accentuation of the columella during treatment, but an absence of growth at the cleft margins. Orthopedic treatment which fails to achieve the desired aims in 12 weeks of active therapy should be discontinued then in favor of such surgical setback as may be necessary to allow a satisfactory lip repair.

  4. Schizencephaly: correlation between the lobar topography of the cleft(s) and absence of the septum pellucidum.

    PubMed

    Raybaud, C; Girard, N; Lévrier, O; Peretti-Viton, P; Manera, L; Farnarier, P

    2001-04-01

    The bipolar defects observed in schizencephalies-clefts in the hemispheric mantle on the one hand, absent septum pellucidum on the other--without any anatomic or functional continuity suggest that there is some sort of common specific vulnerability of both structures. A study of the correlation between lobar location of the clefts and involvement of the septum pellucidum was undertaken, considering the hypothesis that the septum pellucidum is the portion of a "medial medullary velum" that corresponds to the frontal lobe, while the psalterium would correspond to the parieto-occipital lobe and the fimbria corresponds to the temporal lobe. This retrospective study of 16 cases of schizencephaly properly investigated by MR discloses a perfect correlation, all cases with absent septum pellucidum having clefts into the frontal lobe, all cases with present septum pellucidum having clefts in the parietal, temporal, and occipital lobes, and only the few instances (3 cases) of overlapping findings being characterized by clefts in the central area, where the distinction between posterior frontal and anterior parietal lobes is uncertain because of the cortical dysplasia related to the clefts. Partial defects of the septum also proved to correlate closely, topographically, with the location of the clefts. Therefore, the facts confirm a segmental organization of the mantle and septal defects, suggesting a developmental rather than a destructive mechanism, which could at least be related to a segmental pattern of selective vulnerability. PMID:11398940

  5. Alveolar bone grafting in the treatment of midline alveolar cleft and diastema in incomplete median cleft lip.

    PubMed

    Liao, H-T; Chen, C-H; Bergeron, L; Ko, E W-C; Chen, P K T; Chen, Y-R

    2008-10-01

    Median cleft lip is a rare congenital anomaly. The wide diastema with mesial tipping observed in these patients has been largely overlooked. A midline submucosal alveolar cleft prevents adequate treatment. The purpose of this article is to describe an alveolar bone grafting (ABG) technique used in the combined surgical-orthodontic approach to diastema treatment in patients presenting with incomplete median cleft lip. Patients treated for incomplete median cleft lip and diastema were identified in the clinic registry from 1981 to 2007. Six patients were identified; 4 underwent ABG before permanent maxillary incisor eruption, the other 2 were seen later when they were 11 years old. All 6 ABGs were successful. The incisors erupted through the graft or were successfully moved into it with lasting results. Follow-up ranged from 8 to 21 years. The existence of a midline submucosal alveolar cleft and subsequent diastema should be recognized and addressed in all patients who present with incomplete median cleft lip repair. This includes taking maxillary occlusal view X-rays before the age of 5 years to detect the cleft, and proceed to ABG if necessary, generally before permanent maxillary incisor eruption. PMID:18771899

  6. The clinical significance of activated lymphocytes in patients with myelodysplastic syndromes: a single centre study of 131 patients.

    PubMed

    Meers, Stef; Vandenberghe, Peter; Boogaerts, Marc; Verhoef, Gregor; Delforge, Michel

    2008-07-01

    We studied the immune compartment in patients with myelodysplastic syndromes. We show increased surface expression of activation markers (HLA-DR(+), CD57(+), CD28(-), CD62L(-)) on T lymphocytes in blood and bone marrow (n=131). T cell activation was not restricted to any relevant clinical subgroup (FAB, IPSS, cytogenetics) and did not correlate with blood counts or need for treatment. In vitro clonogenic growth of marrow mononuclear cells (n=18) was not influenced by T cells expressing these markers. In addition, using X-chromosome inactivation analysis (n=12) we demonstrate clonal involvement of NK and B cells in half of these patients. We conclude that although activated T lymphocytes can be found in MDS, their role in disease pathogenesis remains unclear in the majority of patients.

  7. Bio-inspired electron-delivering system for reductive activation of dioxygen at metal centres towards artificial flavoenzymes

    PubMed Central

    Roux, Yoann; Ricoux, Rémy; Avenier, Frédéric; Mahy, Jean-Pierre

    2015-01-01

    Development of artificial systems, capable of delivering electrons to metal-based catalysts for the reductive activation of dioxygen, has been proven very difficult for decades, constituting a major scientific lock for the elaboration of environmentally friendly oxidation processes. Here we demonstrate that the incorporation of a flavin mononucleotide (FMN) in a water-soluble polymer, bearing a locally hydrophobic microenvironment, allows the efficient reduction of the FMN by NADH. This supramolecular entity is then capable of catalysing a very fast single-electron reduction of manganese(III) porphyrin by splitting the electron pair issued from NADH. This is fully reminiscent of the activity of natural reductases such as the cytochrome P450 reductases with kinetic parameters, which are three orders of magnitude faster compared with other artificial systems. Finally, we show as a proof of concept that the reduced manganese porphyrin activates dioxygen and catalyses the oxidation of organic substrates in water. PMID:26419885

  8. GOS.SP.ASS.'98: an assessment for speech disorders associated with cleft palate and/or velopharyngeal dysfunction (revised).

    PubMed

    Sell, D; Harding, A; Grunwell, P

    1999-01-01

    In 1994 the present authors proposed a speech assessment protocol for speech disorders associated with cleft palate and/or velopharyngeal dysfunction known as GOS.SP.ASS. (Great Ormond Street Speech Assessment). In a recent survey undertaken to review the different speech assessment protocols used in six cleft palate centres in the UK, GOS.SP.ASS. was selected from six protocols as the optimal procedure for clinical and research purposes. The process of identifying an optimal procedure involved analysis of completed forms for each assessment. Analysis of the completed GOS.SP.ASS. forms revealed significant ambiguities in the protocol which led to differences in form completion. This paper describes important revisions to the original GOS.SP.ASS. protocol in order to ensure comparable data from different clinicians. This detailed speech assessment is now complemented by the Cleft Audit Protocol for Speech (CAPS), a tool recommended for clinical audit. As a result of close collaboration in their preparation, the results are directly comparable. In addition, the speech elicitation sentences and the phonetic diagram have been modified.

  9. Heminasal proboscis, a rare craniofacial cleft.

    PubMed

    Hassani, Mohammad Esmaiil; Karimi, Hamid; Hassani, Hosein; Hassani, Ali; Jalili-Manesh, Mohammad

    2014-01-01

    Craniofacial clefts are extremely rare congenital anomalies, the importance of which lies in their great range of variety of anatomic forms and their complex management. Proboscis is one of the rare cases of this kind in which half of the nose is separated from the face and it is only pedicled on the right or left medial canthal regions by a nose-like, rudimentary tubular structure. This article reports the case of a 3-month-old infant with left-sided proboscis. Left lower eyelid coloboma was also present. The proboscis was treated with local flaps at the age of 3 months, and at the age of 10 months the coloboma was managed. PMID:24275777

  10. Passive versus active operator work in automated process control--a job design case study in a control centre.

    PubMed

    Persson, A; Wanek, B; Johansson, A

    2001-10-01

    Methods of avoiding common problems associated with operator work in automated process control, such as understimulation and difficulties in achieving and maintaining necessary skills and competence, are addressed in this paper. The source of these problems is deduced here to be that monitoring tasks are a predominant part of the job. This case study shows how work in a highly automated process can be designed not only to avoid the traditional problems, but also provide a stimulating job within a good work situation at the same time as fulfilling efficiency demands. A new definition of active/passive operator jobs is made which is based on a categorisation of the types of work tasks that make up the job. The definition gives an explanation of how different designs of operator jobs result in more or less active/passive work situations.

  11. The Irish Centre for Talented Youth

    ERIC Educational Resources Information Center

    Gilheany, Sheila

    2005-01-01

    Conducting potency tests on penicillin, discussing rocket technology with a NASA astronaut, analysing animal bone fragments from medieval times, these are just some of the activities which occupy the time of students at The Irish Centre for Talented Youth. The Centre identifies young students with exceptional academic ability and then provides…

  12. The European Centre for Leisure and Education

    ERIC Educational Resources Information Center

    Convergence, 1969

    1969-01-01

    Supported by UNESCO, the European Centre for Leisure and Education is an establishment of the Czechoslovak Academy of Sciences. The task of the Centre lies in the search for common trends of leisure and education in Europe, involving four types of activity: research, editorial, bibliographic, and documentary. It has sponsored conferences, and has…

  13. EXPERIMENTAL MODELS FOR THE STUDY OF ORAL CLEFTS

    EPA Science Inventory

    Toxicology and teratology studies routinely utilize animal models to determine the potential for chemical and physical agents to produce reproductive and developmental toxicity, including birth defects such as cleft palate. The standardized teratology screen typically tests co...

  14. Ankyloglossia with cleft lip: A rare case report

    PubMed Central

    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.

    PubMed

    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

  16. Proteomic Analysis of Unbounded Cellular Compartments: Synaptic Clefts.

    PubMed

    Loh, Ken H; Stawski, Philipp S; Draycott, Austin S; Udeshi, Namrata D; Lehrman, Emily K; Wilton, Daniel K; Svinkina, Tanya; Deerinck, Thomas J; Ellisman, Mark H; Stevens, Beth; Carr, Steven A; Ting, Alice Y

    2016-08-25

    Cellular compartments that cannot be biochemically isolated are challenging to characterize. Here we demonstrate the proteomic characterization of the synaptic clefts that exist at both excitatory and inhibitory synapses. Normal brain function relies on the careful balance of these opposing neural connections, and understanding how this balance is achieved relies on knowledge of their protein compositions. Using a spatially restricted enzymatic tagging strategy, we mapped the proteomes of two of the most common excitatory and inhibitory synaptic clefts in living neurons. These proteomes reveal dozens of synaptic candidates and assign numerous known synaptic proteins to a specific cleft type. The molecular differentiation of each cleft allowed us to identify Mdga2 as a potential specificity factor influencing Neuroligin-2's recruitment of presynaptic neurotransmitters at inhibitory synapses. PMID:27565350

  17. Computational Embryology and Predictive Toxicology of Cleft Palate

    EPA Science Inventory

    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 ...

  18. Ankyloglossia with cleft lip: A rare case report.

    PubMed

    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.

  19. Oral language skills of adult cleft palate speakers.

    PubMed

    Pannbacker, M

    1975-01-01

    This study investigated selected oral language skills and their relationship to speech intelligibility in forty cleft palate and normal adult speakers. Connected speech samples were analyzed to determine spoken language status which included response length, grammar or syntax, and vocabulary size. The subjects were judged for intelligibility by two groups of listeners: sophisticated and unsophisticated. It was concluded: (a) cleft palate speakers used shorter responses and were more consistent in their language usage; (b) there were no significant differnences in syntax and vocabulary; (c) for cleft palate speakers there was a relationship between intelligibility and language measures; (d) unsophisticated listiners were more consisitent in intelligibility judgements, and (e) sophisticated listeners rated cleft palate speakers poorer than unsophisticated listeners.

  20. Two-layer closure of a wide palatal cleft.

    PubMed

    Bumsted, R M

    1981-04-01

    A method of obtaining a complete two-layer closure of an extremely wide cleft of the secondary palate is presented. Extremely wide is defined as a bony palatal shelf less than one-third the width of the cleft defect. The nasal mucoperiosteum of the superior surface of the palatal shelf was incorporated into the oral layer of the closure by the use of turnover flaps based on the oral mucosa at the cleft margin. The nasal layer of the closure was obtained by the use of a long, superiorly based pharyngeal flap. This procedure was successfully utilized in a patient who was unable to wear a speech appliance successfully. This technique of palatoplasty provides a complete two-layer closure of wide palatal clefts when surgical correction is indicated.

  1. 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).

    ERIC Educational Resources Information Center

    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…

  2. Diiron centre mutations in Ciona intestinalis alternative oxidase abolish enzymatic activity and prevent rescue of cytochrome oxidase deficiency in flies

    PubMed Central

    Andjelković, Ana; Oliveira, Marcos T.; Cannino, Giuseppe; Yalgin, Cagri; Dhandapani, Praveen K.; Dufour, Eric; Rustin, Pierre; Szibor, Marten; Jacobs, Howard T.

    2015-01-01

    The mitochondrial alternative oxidase, AOX, carries out the non proton-motive re-oxidation of ubiquinol by oxygen in lower eukaryotes, plants and some animals. Here we created a modified version of AOX from Ciona instestinalis, carrying mutations at conserved residues predicted to be required for chelation of the diiron prosthetic group. The modified protein was stably expressed in mammalian cells or flies, but lacked enzymatic activity and was unable to rescue the phenotypes of flies knocked down for a subunit of cytochrome oxidase. The mutated AOX transgene is thus a potentially useful tool in studies of the physiological effects of AOX expression. PMID:26672986

  3. A first branchial cleft anomaly within the parotid gland.

    PubMed

    Koltai, P J; Winkelmann, P E

    1980-01-01

    Although the parotid glands are affected more frequently by cysts and congenital lesions than other salivary glands, the benign multigerminal cyst arising from a duplication anomaly of the first branchial cleft within the parotid gland is extremely rare. Forty-two cases of this unusual cause of parotid swelling have been reported in the literature. An example of a first branchial cleft anomaly appearing clinically as a parotid tumor is reported.

  4. The matrix protein Hikaru genki localizes to cholinergic synaptic clefts and regulates postsynaptic organization in the Drosophila brain.

    PubMed

    Nakayama, Minoru; Matsushita, Fumiya; Hama, Chihiro

    2014-10-15

    The synaptic cleft, a crucial space involved in neurotransmission, is filled with extracellular matrix that serves as a scaffold for synaptic differentiation. However, little is known about the proteins present in the matrix and their functions in synaptogenesis, especially in the CNS. Here, we report that Hikaru genki (Hig), a secreted protein with an Ig motif and complement control protein domains, localizes specifically to the synaptic clefts of cholinergic synapses in the Drosophila CNS. The data indicate that this specific localization is achieved by capture of secreted Hig in synaptic clefts, even when it is ectopically expressed in glia. In the absence of Hig, the cytoskeletal scaffold protein DLG accumulated abnormally in cholinergic postsynapses, and the synaptic distribution of acetylcholine receptor (AchR) subunits Dα6 and Dα7 significantly decreased. hig mutant flies consistently exhibited resistance to the AchR agonist spinosad, which causes lethality by specifically activating the Dα6 subunit, suggesting that loss of Hig compromises the cholinergic synaptic activity mediated by Dα6. These results indicate that Hig is a specific component of the synaptic cleft matrix of cholinergic synapses and regulates their postsynaptic organization in the CNS.

  5. Fully Human VH Single Domains That Rival the Stability and Cleft Recognition of Camelid Antibodies.

    PubMed

    Rouet, Romain; Dudgeon, Kip; Christie, Mary; Langley, David; Christ, Daniel

    2015-05-01

    Human VH single domains represent a promising class of antibody fragments with applications as therapeutic modalities. Unfortunately, isolated human VH domains also generally display poor biophysical properties and a propensity to aggregate. This has encouraged the development of non-human antibody domains as alternative means of antigen recognition and, in particular, camelid (VHH) domains. Naturally devoid of light chain partners, these domains are characterized by favorable biophysical properties and propensity for cleft binding, a highly desirable characteristic, allowing the targeting of cryptic epitopes. In contrast, previously reported structures of human VH single domains had failed to recapitulate this property. Here we report the engineering and characterization of phage display libraries of stable human VH domains and the selection of binders against a diverse set of antigens. Unlike "camelized" human domains, the domains do not rely on potentially immunogenic framework mutations and maintain the structure of the VH/VL interface. Structure determination in complex with hen egg white lysozyme revealed an extended VH binding interface, with complementarity-determining region 3 deeply penetrating into the active site cleft, highly reminiscent of what has been observed for camelid domains. Taken together, our results demonstrate that fully human VH domains can be constructed that are not only stable and well expressed but also rival the cleft binding properties of camelid antibodies.

  6. Is alveolar cleft reconstruction still controversial? (Review of literature).

    PubMed

    Seifeldin, Sameh A

    2016-01-01

    Cleft lip and palate (CL/P) is a frequent congenital malformation that manifests in several varieties including unilateral or bilateral and complete or incomplete. Alveolar cleft reconstruction remains controversial with regard to timing, graft materials, surgical techniques, and methods of evaluation. Many studies have been conducted addressing these points to develop an acceptable universal protocol for managing CL/P. The primary goal of alveolar cleft reconstruction in CL/P patients is to provide a bony bridge at the cleft site that allows maxillary arch continuity, oronasal fistula repair, eruption of the permanent dentition into the newly formed bone, enhances nasal symmetry through providing alar base support, orthodontic movement and placement of osseointegrated implants when indicated. Other goals include improving speech, improvement of periodontal conditions, establishing better oral hygiene, and limiting growth disturbances. In order to rehabilitate oral function in CL/P patients alveolar bone grafting is necessary. Secondary bone grafting is the most widely accepted method for treating alveolar clefts. Autogenous bone graft is the primary source for reconstructing alveolar cleft defects and is currently the preferred grafting material. PMID:26792963

  7. Cleft lip and palate in a Brazilian subpopulation

    PubMed Central

    Cuozzo, Fernanda Dornelles Martins; Espinosa, Mariano Martínez; da Silva, Katia Tavares Serafim; de Barros, Yolanda Benedita Abadia Martins; Bandeca, Matheus Coelho; Aranha, Andreza Maria Fabio; Borges, Alvaro Henrique; Volpato, Luiz Evaristo Ricci

    2013-01-01

    Background: This work aimed to access the profile of cleft lip and palate patients of a sub-population in Mid-West Brazil. Materials & Methods: Research was carried out through a cross-sectional study at the Craniofacial Rehabilitation Center of the University General Hospital of the University of Cuiabá, Mato Grosso, Brazil. Variables related to oral cleft type, gender, race, age and presence or absence of associated congenital anomalies or syndromes were analyzed. Results: 313 patients treated at the institution from 2004 to 2007 were recruited. There were 54% male and 46% female patients with the mean age of 11.4 years. Cleft lip and palate was the most prevalent alteration in 49.6% of cases. Caucasians were the most affected in 54.6% of cases. 6.4% of patients had other anomalies or syndromes associated with cleft. Conclusion: More comprehensive surveys should be conducted in order to supply the lack of data on the occurrence and determinants of oral clefts in this region. How to cite this article:Cuozzo FD, Espinosa MM, Serafim da Silva KT, Martins de Barros YB, Bandeca MC, Aranha AM, Borges AH, Volpato LE. Cleft lip and palate in a Brazilian subpopulation. J Int Oral Health 2013; 5(4):15-20. PMID:24155614

  8. Is alveolar cleft reconstruction still controversial? (Review of literature)

    PubMed Central

    Seifeldin, Sameh A.

    2015-01-01

    Cleft lip and palate (CL/P) is a frequent congenital malformation that manifests in several varieties including unilateral or bilateral and complete or incomplete. Alveolar cleft reconstruction remains controversial with regard to timing, graft materials, surgical techniques, and methods of evaluation. Many studies have been conducted addressing these points to develop an acceptable universal protocol for managing CL/P. The primary goal of alveolar cleft reconstruction in CL/P patients is to provide a bony bridge at the cleft site that allows maxillary arch continuity, oronasal fistula repair, eruption of the permanent dentition into the newly formed bone, enhances nasal symmetry through providing alar base support, orthodontic movement and placement of osseointegrated implants when indicated. Other goals include improving speech, improvement of periodontal conditions, establishing better oral hygiene, and limiting growth disturbances. In order to rehabilitate oral function in CL/P patients alveolar bone grafting is necessary. Secondary bone grafting is the most widely accepted method for treating alveolar clefts. Autogenous bone graft is the primary source for reconstructing alveolar cleft defects and is currently the preferred grafting material. PMID:26792963

  9. The management of Otitis Media with Effusion in children with cleft palate (mOMEnt): a feasibility study and economic evaluation.

    PubMed Central

    Bruce, Iain; Harman, Nicola; Williamson, Paula; Tierney, Stephanie; Callery, Peter; Mohiuddin, Syed; Payne, Katherine; Fenwick, Elisabeth; Kirkham, Jamie; O'Brien, Kevin

    2015-01-01

    BACKGROUND Cleft lip and palate are among the most common congenital malformations, with an incidence of around 1 in 700. Cleft palate (CP) results in impaired Eustachian tube function, and 90% of children with CP have otitis media with effusion (OME) histories. There are several approaches to management, including watchful waiting, the provision of hearing aids (HAs) and the insertion of ventilation tubes (VTs). However, the evidence underpinning these strategies is unclear and there is a need to determine which treatment is the most appropriate. OBJECTIVES To identify the optimum study design, increase understanding of the impact of OME, determine the value of future research and develop a core outcome set (COS) for use in future studies. DESIGN The management of Otitis Media with Effusion in children with cleft palate (mOMEnt) study had four key components: (i) a survey evaluation of current clinical practice in each cleft centre; (ii) economic modelling and value of information (VOI) analysis to determine if the extent of existing decision uncertainty justifies the cost of further research; (iii) qualitative research to capture patient and parent opinion regarding willingness to participate in a trial and important outcomes; and (iv) the development of a COS for use in future effectiveness trials of OME in children with CP. SETTING The survey was carried out by e-mail with cleft centres. The qualitative research interviews took place in patients' homes. The COS was developed with health professionals and parents using a web-based Delphi exercise and a consensus meeting. PARTICIPANTS Clinicians working in the UK cleft centres, and parents and patients affected by CP and identified through two cleft clinics in the UK, or through the Cleft Lip and Palate Association. RESULTS The clinician survey revealed that care was predominantly delivered via a 'hub-and-spoke' model; there was some uncertainty about treatment strategies; it is not current practice to insert VTs

  10. Hybrid compounds with two redox centres: modular synthesis of chalcogen-containing lapachones and studies on their antitumor activity.

    PubMed

    Vieira, André A; Brandão, Igor R; Valença, Wagner O; de Simone, Carlos A; Cavalcanti, Bruno C; Pessoa, Claudia; Carneiro, Teiliane R; Braga, Antonio L; da Silva, Eufrânio N

    2015-08-28

    Chalcogen-containing β-lapachone derivatives were synthesized using a straightforward methodology and evaluated against several cancer cell lines (leukaemia, human colon carcinoma, prostate, human metastatic prostate, ovarian, central nervous system and breast), showing, in some cases, IC50 values below 1 μM. The cytotoxic potential of the lapachones evaluated was also assayed using non-tumor cells: human peripheral blood mononuclear cells, two murine fibroblast lines (L929 and V79 cells) and MDCK (canine kidney epithelial cells). These compounds could provide promising new lead derivatives for anticancer drug development. This manuscript reports important findings since few authors have described C-3 substituted β-lapachone with potent antitumor activity. The methodology employed allowed the preparation of the compounds from lapachol within a few minutes in a green approach.

  11. Elevated Seismic Activity Beneath the Slumbering Morne aux Diables Volcano, Northern Dominica and the Monitoring Role of the Seismic Research Centre

    NASA Astrophysics Data System (ADS)

    Watts, R. B.; Robertson, R. E.; Abraham, W.; Cole, P.; de Roche, T.; Edwards, S.; Higgins, M.; Johnson, M.; Joseph, E. P.; Latchman, J.; Lynch, L.; Nath, N.; Ramsingh, C.; Stewart, R. C.

    2012-12-01

    Since June 2009, periods of elevated seismic activity have been experienced around the flanks of Morne Aux Diables Volcano in northern Dominica. This long-dormant volcano is a complex of 7 andesitic lava domes with a central depression where a cold soufrière is evident. Prior to this activity, seismicity was very quiet except for a short period in 2000 and an intense short-lived swarm in April 2003. The most recent earthquake activity has been regularly felt by residents in villages on all flanks of the complex. In Dec 09/Jan10, scientists from the Seismic Research Centre (SRC), based in Trinidad & Tobago, in collaboration with staff of the Office of Disaster Management (ODM) and Dominica Public Seismic Network (DPSN) improved the monitoring capacity around this volcano from 1 to 7 seismic stations. Earthquakes are determined to be volcano-tectonic in nature and located at shallow depths (<4 km) beneath the central depression. Additionally, in Jan/Feb 10 geothermal sampling was undertaken and 2 permanent GPS sites were deployed. Public information leaflets prepared by SRC scientists using a "Question & Answer" format have been distributed to concerned citizens whilst many public meetings were carried out by ODM staff. Field investigations indicate that the previous Late Pleistocene activity of Morne Aux Diables switched from Pelèan dome growth and gravitational collapse to more explosive pumice-falls and associated ignimbrites, both styles forming extensive pyroclastic fans around the central complex. The town of Portsmouth is located on one of these fans ~5 km southwest of the central depression. Sporadic, short bursts of seismic activity continue at the time of writing.

  12. International confederation for cleft lip and palate and related craniofacial anomalies task force report: beyond eurocleft.

    PubMed

    Semb, Gunvor

    2014-11-01

    treatment outcome suggested. (5) Reach agreement on minimum standards of care, minimum record collection, and reach consensus on simple outcome measures in all disciplines. This should include all cleft types and all ages. These standards could be used to encourage governments to fund multidisciplinary care. (6) Teams will be encouraged to start and continue recordkeeping using simple and agreed protocols, according to agreed standards of minimum records and later share their data with other teams and then, embark on outcome studies. (7) Teams already active in research should: Create a register for cleft professionals and teams to reach agreement of contemporary and comprehensive multidisciplinary outcome measures, explore the possibilities using modern technology and plan large multi-national studies. A patient/parent centered data collection should always be included. These studies need funding. One task could also be exploring whether health care at a distance could be initiated using new technology. PMID:25244656

  13. International confederation for cleft lip and palate and related craniofacial anomalies task force report: beyond eurocleft.

    PubMed

    Semb, Gunvor

    2014-11-01

    treatment outcome suggested. (5) Reach agreement on minimum standards of care, minimum record collection, and reach consensus on simple outcome measures in all disciplines. This should include all cleft types and all ages. These standards could be used to encourage governments to fund multidisciplinary care. (6) Teams will be encouraged to start and continue recordkeeping using simple and agreed protocols, according to agreed standards of minimum records and later share their data with other teams and then, embark on outcome studies. (7) Teams already active in research should: Create a register for cleft professionals and teams to reach agreement of contemporary and comprehensive multidisciplinary outcome measures, explore the possibilities using modern technology and plan large multi-national studies. A patient/parent centered data collection should always be included. These studies need funding. One task could also be exploring whether health care at a distance could be initiated using new technology.

  14. Radiostrontium levels in foodstuffs: 4-Years control activity by Italian reference centre, as a contribution to risk assessment.

    PubMed

    Iammarino, Marco; dell'Oro, Daniela; Bortone, Nicola; Mangiacotti, Michele; Damiano, Rita; Chiaravalle, Antonio Eugenio

    2016-11-01

    (90)Sr is considered an important contaminant relating to food supply chains. In this study, 176 liquid and 260 solid foods, were analysed in order to quantify (90)Sr. Through ruggedness tests, the application field of radiochemical methods used was extended successfully to all most important types of foodstuffs. Regarding liquid matrices, milk samples resulted the most important indicator about (90)Sr contamination, with mean (90)Sr activity concentration equal to 0.058BqL(-1). Among other liquid foods, wine/spirits and livestock watering resulted the most contaminated, with mean contamination levels equal to 0.022 and 0.035BqL(-1), respectively. Concerning solid matrices, cheeses produced from sheep's milk and animal feeds resulted the most contaminated (mean levels: 1.237 and 1.557Bqkg(-1), respectively). Meat products and seafood showed contamination levels not significant within this survey; while, among vegetables, cacao/chocolate and spices resulted in contamination levels comparable with those of cheese obtained from milk of cows origin. PMID:27211657

  15. Cleft Crossing Medial Mucosal Flap for Deepening of the Gingivolabial Sulcus in a Complete Cleft Lip Repair.

    PubMed

    Park, Jong Lim; Hwang, Kun

    2015-06-01

    The aim of the present study is to introduce a method of which the medial mucosal flap is used in a deepening of the gingivolabial sulcus in a complete cleft lip repair. An incision was made on the lateral vestibular lining and the contracture was released. The defect produced was filled by transposing the lateral mucosal flap (l-flap). The transposed l-flap was sutured except for the proximal part of the lateral side. The medial mucosal flap (m-flap) was elevated with its base above on the alveolus. The m-flap was turned over and crossed over the cleft thereafter and the distal end of the m-flap was sutured to the proximal part of the lateral side of the l-flap. The width of the m-flap was 4 to 5 mm, and the length depended on the width of the cleft. The raw surface of the m-flap faced the outer side and was covered with the repaired muscle layer. Thereafter, the m-flap became a part of the deepened gingivolabial sulcus. A total of 12 patients (8 men, 4 women) with a unilateral complete cleft lip (left 9, right 3) were operated on using this technique and at least 2 mm deepening effect of upper gingivolabial sulcus was observed in 8 patients followed up. The authors think this cleft crossing medial mucosal flap technique may be of use in the primary repair of a unilateral cleft lip. PMID:26080198

  16. Cleft lip and palate in Finland in 1948-75: correlations to infections, seasonal and yearly variations.

    PubMed

    Rintala, A; Pönkä, A; Sarna, S; Stegars, T

    1983-01-01

    Comparison of the patient records of the Finnish Red Cross National Cleft Center and the Central Register of Congenital Malformations showed a statistically significant yearly fluctuation as well as an increasing trend in the incidence of both cleft lip (and palate) and isolated cleft palate during the period 1948-1975. Almost significant difference was found in the monthly incidence of CL(P) with the peak in children born in April, while no such difference could be noticed in CP or both groups combined. The rapid increase and similarity of the incidence curves of both CL(P) and CP is suggestive of the action of simultaneous and similar exogenous agents in the pathogenesis of both types. In patients with CL(P) the etiological factor was considered to have been active 35 weeks and in CP 31 weeks before delivery. The monthly number of clefts was compared to the number of serologically verified infections (influenza A, respiratory syncytical, mumps, measles, rubeola, parainfluenza, adenoviruses as well as Mycoplasma pneumoniae) in the years 1971-75. No statistically significant correlation was found in this respect. PMID:6673086

  17. Length of the cervical spine as a factor in the etiology of cleft palate.

    PubMed

    Smahĕl, Z; Skvarilová, B

    1993-05-01

    The length of the cervical spine in a series of 206 adult males with cleft lip and/or palate and 50 normal controls was measured. The patients were divided into five subgroups according to the type and extent of the cleft. The shortening of the spine was most marked in bilateral cleft lip and palate patients (complete), less marked in unilateral cleft lip and palate patients, and was slight in isolated cleft palate patients. Complete isolated cleft palate and cleft lip was not associated with a shortening of the spine. A shortening of the cervical spine in less extensive types of isolated cleft palate was suggestive of the participation of the spine in their development, while in cleft lip and palate a simultaneous exposure to a teratogenic agent or any other developmental error during early stages of embryogenesis could explain the concomitant occurrence of spine anomalies. Patients with cleft lip and palate associated with a short spine also had a shorter mandibular ramus, which could be suggestive of simultaneous damage to both structures during morphogenesis. This relationship was not demonstrated in isolated cleft palate that developed in later stages of embryogenesis. In these cases a short spine itself could not have impaired the growth potential of the mandible, yet it could have mechanically induced the development of cleft palate. These observations are in agreement with the present state of knowledge on the development of orofacial clefts as shown in experimental animals.

  18. Diagnostic/genetic sreening - approach for genetic diagnoses and prevention of cleft lip and/or palate.

    PubMed

    Natsume, Nagato; Kato, Tomoki; Hayakawa, Toko; Imura, Hideto

    2013-01-01

    The treatment, research and volunteer work for cleft lip and/or palate (CL/P) has been led for over 30 years by our team. Within this period, more than 4,000 cases of CL/P were treated and at the same time, and approximately 400 papers were published as the first or partner researcher in Nature Genetics, New England Journal of Medicine and others. In addition, with $20 million that was donated from companies and laypeople, and the grant from the Japanese government, CL/P centres in many countries and in Japan, the oral and craniofacial congenital anomaly gene bank in our CL/P centre was established by our leadership. In the bank there are genes from approximately more than 8,000 cases. The genes were mapped with Professor Jeffery Murray of Iowa University in the United States, the findings about genetic syndromes such as Van der Woude Syndrome and basal cell nevus syndrome were applied in clinical settings. The genetic counselling section that specialises in the oral and maxillofacial field was established by our effort for the first time in Japan. In this review, our clinical experience and approach for genetic diagnoses and prevention of cleft lip and/or palate will be discussed.

  19. γ irradiation induced effects on bismuth active centres and related photoluminescence properties of Bi/Er co-doped optical fibres.

    PubMed

    Sporea, D; Mihai, L; Neguţ, D; Luo, Yanhua; Yan, Binbin; Ding, Mingjie; Wei, Shuen; Peng, Gang-Ding

    2016-01-01

    We investigate the effects of γ irradiation on bismuth active centres (BACs) and related photoluminescence properties of bismuth/erbium co-doped silica fibre (BEDF), [Si] ~28, [Ge] ~1.60, [Al] ~0.10, [Er] ~ <0.10 and [Bi] ~0.10 atom%, fabricated by in-situ solution doping and Modified Chemical Vapor Deposition (MCVD). The samples were irradiated at 1 kGy, 5 kGy, 15 kGy, 30 kGy and 50 kGy doses, and dose rate of 5.5 kGy/h, at room temperature. The optical properties of BEDF samples are tested before and after γ irradiation. We found that high dose γ irradiation could significantly influence the formation and composition of BACs and their photoluminescence performance, as important changes in absorption and emission properties associated with the 830 nm pump produces the direct evidence of γ irradiation effects on BAC-Si. We notice that the saturable to unsaturable absorption ratio at pump wavelength could be increased with high dose γ irradiation, indicating that emission and pump efficiency could be increased by γ irradiation. Our experimental results also reveal good radiation survivability of the BEDF under low and moderate γ irradiation. Our investigation suggests the existence of irradiation related processing available for tailoring the photoluminescence properties and performance of bismuth doped/co-doped fibres. PMID:27440386

  20. Auxin and ethylene interactions control mitotic activity of the quiescent centre, root cap size, and pattern of cap cell differentiation in maize.

    PubMed

    Ponce, Georgina; Barlow, Peter W; Feldman, Lewis J; Cassab, Gladys I

    2005-06-01

    Root caps (RCs) are the terminal tissues of higher plant roots. In the present study the factors controlling RC size, shape and structure were examined. It was found that this control involves interactions between the RC and an adjacent population of slowly dividing cells, the quiescent centre, QC. Using the polar auxin transport inhibitor 1-N-naphthylphthalamic acid (NPA), the effects of QC activation on RC gene expression and border cell release was characterized. Ethylene was found to regulate RC size and cell differentiation, since its addition, or the inhibition of its synthesis, affected RC development. The stimulation of cell division in the QC following NPA treatment was reversed by ethylene, and quiescence was re-established. Moreover, inhibition of both ethylene synthesis and auxin polar transport triggered a new pattern of cell division in the root epidermis and led to the appearance of supernumerary epidermal cell files with cap-like characteristics. The data suggest that the QC ensures an ordered internal distribution of auxin, and thereby regulates not only the planes of growth and division in both the root apex proper and the RC meristem, but also regulates cell fate in the RC. Ethylene appears to regulate the auxin redistribution system that resides in the RC. Experiments with Arabidopsis roots also reveal that ethylene plays an important role in regulating the auxin sink, and consequently cell fate in the RC.

  1. γ irradiation induced effects on bismuth active centres and related photoluminescence properties of Bi/Er co-doped optical fibres

    PubMed Central

    Sporea, D.; Mihai, L.; Neguţ, D.; Luo, Yanhua; Yan, Binbin; Ding, Mingjie; Wei, Shuen; Peng, Gang-Ding

    2016-01-01

    We investigate the effects of γ irradiation on bismuth active centres (BACs) and related photoluminescence properties of bismuth/erbium co-doped silica fibre (BEDF), [Si] ~28, [Ge] ~1.60, [Al] ~0.10, [Er] ~ <0.10 and [Bi] ~0.10 atom%, fabricated by in-situ solution doping and Modified Chemical Vapor Deposition (MCVD). The samples were irradiated at 1 kGy, 5 kGy, 15 kGy, 30 kGy and 50 kGy doses, and dose rate of 5.5 kGy/h, at room temperature. The optical properties of BEDF samples are tested before and after γ irradiation. We found that high dose γ irradiation could significantly influence the formation and composition of BACs and their photoluminescence performance, as important changes in absorption and emission properties associated with the 830 nm pump produces the direct evidence of γ irradiation effects on BAC-Si. We notice that the saturable to unsaturable absorption ratio at pump wavelength could be increased with high dose γ irradiation, indicating that emission and pump efficiency could be increased by γ irradiation. Our experimental results also reveal good radiation survivability of the BEDF under low and moderate γ irradiation. Our investigation suggests the existence of irradiation related processing available for tailoring the photoluminescence properties and performance of bismuth doped/co-doped fibres. PMID:27440386

  2. γ irradiation induced effects on bismuth active centres and related photoluminescence properties of Bi/Er co-doped optical fibres

    NASA Astrophysics Data System (ADS)

    Sporea, D.; Mihai, L.; Neguţ, D.; Luo, Yanhua; Yan, Binbin; Ding, Mingjie; Wei, Shuen; Peng, Gang-Ding

    2016-07-01

    We investigate the effects of γ irradiation on bismuth active centres (BACs) and related photoluminescence properties of bismuth/erbium co-doped silica fibre (BEDF), [Si] ~28, [Ge] ~1.60, [Al] ~0.10, [Er] ~ <0.10 and [Bi] ~0.10 atom%, fabricated by in-situ solution doping and Modified Chemical Vapor Deposition (MCVD). The samples were irradiated at 1 kGy, 5 kGy, 15 kGy, 30 kGy and 50 kGy doses, and dose rate of 5.5 kGy/h, at room temperature. The optical properties of BEDF samples are tested before and after γ irradiation. We found that high dose γ irradiation could significantly influence the formation and composition of BACs and their photoluminescence performance, as important changes in absorption and emission properties associated with the 830 nm pump produces the direct evidence of γ irradiation effects on BAC-Si. We notice that the saturable to unsaturable absorption ratio at pump wavelength could be increased with high dose γ irradiation, indicating that emission and pump efficiency could be increased by γ irradiation. Our experimental results also reveal good radiation survivability of the BEDF under low and moderate γ irradiation. Our investigation suggests the existence of irradiation related processing available for tailoring the photoluminescence properties and performance of bismuth doped/co-doped fibres.

  3. Hydrothermal circulation at the Cleft-Vance overlapping spreading center: Results of a magnetometric resistivity survey

    USGS Publications Warehouse

    Evans, R.L.; Webb, S.C.; Jegen, M.; Sananikone, K.

    1998-01-01

    We report on a magnetometric resistivity sounding carried out in the overlapping spreading center between the Cleft and Vance segments of the Juan de Fuca Ridge. The data collected reveal a strong three dimensionality in the crustal electrical resistivity structure on wavelengths of a few kilometers. Areas of reduced crustal electrical resistivities, with values approaching that of seawater, are seen beneath the neovolcanic zones of both active spreading centers. We interpret these reduced resistivities as evidence of active hydrothermal circulation within the uppermost 1 km of hot, young oceanic crust.

  4. Clinical features of symptomatic Rathke's cleft cyst.

    PubMed

    Isono, M; Kamida, T; Kobayashi, H; Shimomura, T; Matsuyama, J

    2001-07-01

    To investigate the clinical features of Rathke's cleft cysts (RCCs), we retrospectively analyzed 15 cases with histologically confirmed RCCs. All patients underwent formal testing of visual field, endocrinological evaluation and magnetic resonance imagings. As overall presenting symptoms, endocrine disturbance was the most common symptoms, followed by visual disturbance and headache. Among the endocrine disturbances based on adenohypophysial dysfunction, hyperprolactinemia was most common. Considering the size of RCCs, RCCs could induce hyperprolactinemia only when the cysts became large enough to compress the infundibular system. Our series showed relative high incidence of pituitary dwarfism and diabetes insipidus (DI). These facts indicated that RCCs could evoke hyposecretion of growth hormone in young patients and DI in aged patients by direct compression of the pituitary gland in the early stage of progression. All cases who had headache had no other symptoms. We could not prove the evidence that RCCs could induce headaches in these cases. This might be suggested that headache could not be a sole symptom in cases of RCCs. PMID:11516552

  5. Prevention of oro-facial clefts in developing world.

    PubMed

    Oginni, Fadekemi O; Adenekan, Anthony T

    2012-07-01

    Oro-facial cleft (OFC) remains a prominent health issue in developed and developing countries alike. It is the commonest craniofacial birth defect in humans. Mounting evidence suggest a polygenic, multifactorial and a list of epigenetic events. Primary prevention of OFC is based on recognition of the etiologic and risk factors. While a number of preventive strategies are in place for OFC in most developed countries of the world, the majority of developing countries are distant from achieving this goal for a number of reasons. Notable among these are a huge knowledge and practice gap in the field of genetics and dearth of accurate data. In addition, improper coordination and absenteeism from antenatal care contributed greatly to this set back. With ongoing efforts aimed at determining the genetics of nonsyndromic OFC in developing countries, researches directed at identifying environmental factors should equally be in place. Pending the outcome of these, implicated environmental and attitudinal risk factors in other populations could serve as preventive template in health education and interventions. Since risk factors vary between populations, definitive and effective preventive strategies and models would vary from place to place and from time to time. Frantic effort directed at identifying specific implicated risk factors in developing countries should include developing and keeping comprehensive national perinatal database and centralization of antenatal care protocol. Additionally, active health education at every level and a focus on developing manpower in the field of genetics should be in place. These would be designed and tailored toward identified, proven, and emerging risk factors.

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

    SciTech Connect

    Marazita, M.L. ); Hu, Dan-Ning; Liu, You-E. ); Spence, A. ); Melnick, M. )

    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.

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

    SciTech Connect

    Blanton, S.H.; Malcolm, S.; Winter, R.

    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.

  8. Facial clefts and facial dysplasia: revisiting the classification.

    PubMed

    Mazzola, Riccardo F; Mazzola, Isabella C

    2014-01-01

    Most craniofacial malformations are identified by their appearance. The majority of the classification systems are mainly clinical or anatomical, not related to the different levels of development of the malformation, and underlying pathology is usually not taken into consideration. In 1976, Tessier first emphasized the relationship between soft tissues and the underlying bone stating that "a fissure of the soft tissue corresponds, as a general rule, with a cleft of the bony structure". He introduced a cleft numbering system around the orbit from 0 to 14 depending on its relationship to the zero line (ie, the vertical midline cleft of the face). The classification, easy to understand, became widely accepted because the recording of the malformations was simple and communication between observers facilitated. It represented a great breakthrough in identifying craniofacial malformations, named clefts by him. In the present paper, the embryological-based classification of craniofacial malformations, proposed in 1983 and in 1990 by us, has been revisited. Its aim was to clarify some unanswered questions regarding apparently atypical or bizarre anomalies and to establish as much as possible the moment when this event occurred. In our opinion, this classification system may well integrate the one proposed by Tessier and tries at the same time to find a correlation between clinical observation and morphogenesis.Terminology is important. The overused term cleft should be reserved to true clefts only, developed from disturbances in the union of the embryonic facial processes, between the lateronasal and maxillary process (or oro-naso-ocular cleft); between the medionasal and maxillary process (or cleft of the lip); between the maxillary processes (or cleft of the palate); and between the maxillary and mandibular process (or macrostomia).For the other types of defects, derived from alteration of bone production centers, the word dysplasia should be used instead. Facial

  9. Pretoria Centre Reaches Out

    NASA Astrophysics Data System (ADS)

    Bosman, Olivier

    2014-08-01

    On 5 July 2014 six members of the Pretoria Centre of ASSA braved the light pollution of one of the shopping malls in Centurion to reach out to shoppers a la John Dobson and to show them the moon, Mars and Saturn. Although the centre hosts regular monthly public observing evenings, it was felt that we should take astronomy to the people rather than wait for the people to come to us.

  10. Contemporary Concepts for the Bilateral Cleft Lip and Nasal Repair

    PubMed Central

    Khosla, Rohit K.; McGregor, Jyoti; Kelley, Patrick K.; Gruss, Joseph S.

    2012-01-01

    The bilateral cleft lip and nasal deformity presents a complex challenge for repair. Surgical techniques continue to evolve and are focused on primary anatomic realignment of the tissues. This can be accomplished in a single-stage or two-stage repair early in infancy to provide a foundation for future growth of the lip and nasal tissue. Most cleft surgeons currently perform a single-stage repair for simplifying patient care. Certain institutions utilize presurgical orthopedics for alignment of the maxillary segments and nasal shaping. Methods for the bilateral cleft lip repair are combined with various open and closed rhinoplasty techniques to achieve improved correction of the primary nasal deformity. There is recent focus on shaping the nose for columellar and tip support, as well as alar contour and alar base position. The authors will present a new technique for closure of the nasal floor to prevent the alveolar cleft fistula. Although the alveolar fistula is closed, alveolar bone grafting is still required at the usual time in dental development to fuse the maxilla. It is paramount to try and minimize the stigmata of secondary deformities that historically have been characteristic of the repaired bilateral cleft lip. A properly planned and executed repair reduces the number of revisions and can spare a child from living with secondary deformities. PMID:24179448

  11. Cleft lift procedure for pilonidal disease: technique and perioperative management.

    PubMed

    Favuzza, J; Brand, M; Francescatti, A; Orkin, B

    2015-08-01

    Pilonidal disease is a common condition affecting young patients. It is often disruptive to their lifestyle due to recurrent abscesses or chronic wound drainage. The most common surgical treatment, "cystectomy," removes useful tissue unnecessarily and does not address the etiology of the condition. Herein, we describe the etiology of pilonidal disease and our technique for definitive management of pilonidal disease using the cleft lift procedure. In this paper, we present our method of performing the cleft lift procedure for pilonidal disease including perioperative management and surgical technique. We have used the cleft lift procedure in nearly 200 patients with pilonidal disease, in both primary and salvage procedures settings. It has been equally successful in both settings with a high rate of success. It results in a closed wound with relatively minimal discomfort and straightforward wound care. We have described our current approach to recurrent and complex pilonidal disease using the cleft lift procedure. Once learned, the cleft lift procedure is a straightforward and highly successful solution to a chronic and challenging condition.

  12. Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.

    PubMed

    Leslie, Elizabeth J; Taub, Margaret A; Liu, Huan; Steinberg, Karyn Meltz; Koboldt, Daniel C; Zhang, Qunyuan; Carlson, Jenna C; Hetmanski, Jacqueline B; Wang, Hang; Larson, David E; Fulton, Robert S; Kousa, Youssef A; Fakhouri, Walid D; Naji, Ali; Ruczinski, Ingo; Begum, Ferdouse; Parker, Margaret M; Busch, Tamara; Standley, Jennifer; Rigdon, Jennifer; Hecht, Jacqueline T; Scott, Alan F; Wehby, George L; Christensen, Kaare; Czeizel, Andrew E; Deleyiannis, Frederic W-B; Schutte, Brian C; Wilson, Richard K; Cornell, Robert A; Lidral, Andrew C; Weinstock, George M; Beaty, Terri H; Marazita, Mary L; Murray, Jeffrey C

    2015-03-01

    Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants are unknown. To address this, we selected 13 regions from GWASs and other studies, performed targeted sequencing in 1,409 Asian and European trios, and carried out a series of statistical and functional analyses. Within a cluster of strongly associated common variants near NOG, we found that one, rs227727, disrupts enhancer activity. We furthermore identified significant clusters of non-coding rare variants near NTN1 and NOG and found several rare coding variants likely to affect protein function, including four nonsense variants in ARHGAP29. We confirmed 48 de novo mutations and, based on best biological evidence available, chose two of these for functional assays. One mutation in PAX7 disrupted the DNA binding of the encoded transcription factor in an in vitro assay. The second, a non-coding mutation, disrupted the activity of a neural crest enhancer downstream of FGFR2 both in vitro and in vivo. This targeted sequencing study provides strong functional evidence implicating several specific variants as primary contributory risk alleles for nonsyndromic clefting in humans.

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

    PubMed Central

    Leslie, Elizabeth J.; Taub, Margaret A.; Liu, Huan; Steinberg, Karyn Meltz; Koboldt, Daniel C.; Zhang, Qunyuan; Carlson, Jenna C.; Hetmanski, Jacqueline B.; Wang, Hang; Larson, David E.; Fulton, Robert S.; Kousa, Youssef A.; Fakhouri, Walid D.; Naji, Ali; Ruczinski, Ingo; Begum, Ferdouse; Parker, Margaret M.; Busch, Tamara; Standley, Jennifer; Rigdon, Jennifer; Hecht, Jacqueline T.; Scott, Alan F.; Wehby, George L.; Christensen, Kaare; Czeizel, Andrew E.; Deleyiannis, Frederic W.-B.; Schutte, Brian C.; Wilson, Richard K.; Cornell, Robert A.; Lidral, Andrew C.; Weinstock, George M.; Beaty, Terri H.; Marazita, Mary L.; Murray, Jeffrey C.

    2015-01-01

    Although genome-wide association studies (GWASs) for nonsyndromic orofacial clefts have identified multiple strongly associated regions, the causal variants are unknown. To address this, we selected 13 regions from GWASs and other studies, performed targeted sequencing in 1,409 Asian and European trios, and carried out a series of statistical and functional analyses. Within a cluster of strongly associated common variants near NOG, we found that one, rs227727, disrupts enhancer activity. We furthermore identified significant clusters of non-coding rare variants near NTN1 and NOG and found several rare coding variants likely to affect protein function, including four nonsense variants in ARHGAP29. We confirmed 48 de novo mutations and, based on best biological evidence available, chose two of these for functional assays. One mutation in PAX7 disrupted the DNA binding of the encoded transcription factor in an in vitro assay. The second, a non-coding mutation, disrupted the activity of a neural crest enhancer downstream of FGFR2 both in vitro and in vivo. This targeted sequencing study provides strong functional evidence implicating several specific variants as primary contributory risk alleles for nonsyndromic clefting in humans. PMID:25704602

  14. Facial aesthetics and perceived need for further treatment among adults with repaired cleft as assessed by cleft team professionals and laypersons.

    PubMed

    Foo, Peter; Sampson, Wayne; Roberts, Rachel; Jamieson, Lisa; David, David

    2013-06-01

    The objectives of this study were to compare the ratings of professionals and laypeople with and without a cleft regarding the facial aesthetics of adult patients previously treated for orofacial clefting. The necessity for further treatment, as perceived by the respective groups, is also compared. The design of the study was a cross-sectional study. Professionals (two plastic surgeons, one dentist, one orthodontist, and one psychologist) and laypeople (one male and one female adult without a cleft and one male and one female adult with a cleft) were recruited to rate photographs of 80 non-syndromic cleft patients treated by the Australian Craniofacial Unit from 1975 to 2009. Facial aesthetics were measured by a visual analogue scale (VAS; 0-100 mm). High values indicated good aesthetics. Necessity for further treatment was also measured by a VAS (0-100 mm). High values indicated high perceived need for further treatment. The professionals rated facial aesthetics significantly lower and had a lower perception of need for further treatment than the raters with and without a cleft. The laypeople with a cleft rated facial aesthetics significantly higher and had a lower perceived need for further treatment than laypeople without a cleft. The non-surgical professionals rated facial aesthetics significantly lower and had a lower perceived need for further treatment than the surgical professionals. Differences exist in the facial aesthetics ratings and perceived need for further surgery between professionals and laypeople with and without a cleft. This should be considered when managing cleft treatment expectations.

  15. Tessier 3 cleft with clinical anophthalmia: two case reports and a review of the literature.

    PubMed

    Wenbin, Zhang; Hanjiang, Wu; Xiaoli, Chen; Zhonglin, Li

    2007-01-01

    Tessier 3 cleft with clinical anophthalmia is one of the rarest craniofacial clefts, and hence little has been published about its management and treatment. This article presents two cases of Tessier 3 cleft with clinical anophthalmia. A review of the literature helps to diagnose these complex facial deformities. The treatment and etiopathogenesis are discussed.

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

    ERIC Educational Resources Information Center

    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…

  17. EAC: The European Astronauts Centre

    NASA Astrophysics Data System (ADS)

    Ripoll, Andres

    The newly established European Astronauts Centre (EAC) in Cologne represents the European Astronauts Home Base and will become a centre of expertise on European astronauts activities. The paper gives an overview of the European approach to man-in-space, describes the European Astronauts Policy and presents the major EAC roles and responsibilities including the management of selection, recruitment and flight assignment of astronauts; the astronauts support and medical surveillance; the supervision of the astronauts' non-flight assignments; crew safety; the definition of the overall astronauts training programme; the scheduling and supervision of the training facilities; the implementation of Basic Training; the recruitment, training and certification of instructors, and the interface to NASA in the framework of the Space Station Freedom programme. An overview is given on the organisation of EAC, and on the European candidate astronauts selection performed in 1991.

  18. Common Dental Anomalies in Cleft Lip and Palate Patients

    PubMed Central

    HAQUE, Sanjida; ALAM, Mohammad Khursheed

    2015-01-01

    Background: 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. Methods: By literature survey, this study characterises the different types of dental anomalies that are frequently associated with cleft lip and palate patients. Results: 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. Conclusion: The incidence of certain dental anomalies is strongly correlated with Cleft lip and palate, a finding that is consistent with previous studies. PMID:26023296

  19. Pedunculated cavernous hemangioma originating in the olfactory cleft.

    PubMed

    Su, Kaiming; Zhang, Weitian; Shi, Haibo; Yin, Shankai

    2014-09-01

    Sinonasal cavernous hemangioma is a rare condition that usually affects the lateral wall of the nasal cavity. We report the case of a 77-year-old man who presented with severe epistaxis, nasal congestion, and olfactory dysfunction. Endoscopic examination of the nasal cavity revealed the presence of a red-blue tumor that had almost completely filled the nasopharynx. Preoperatively, it was difficult to distinguish this lesion from a juvenile nasopharyngeal angiofibroma. During endoscopic surgery, the tumor was found to originate in the left olfactory cleft, and it had a long peduncle that contained blood vessels. Postoperative histopathologic examination indicated that the mass was a cavernous hemangioma. To the best of our knowledge, this is the first case of an olfactory cleft cavernous hemangioma and the first case of olfactory cleft disease associated with a cavernous hemangioma to be reported in the English-language literature. PMID:25255356

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

    PubMed

    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. PMID:25442980

  1. Surgical placement of a chin cleft concomitant with genioplasty.

    PubMed

    Sher, M R

    1980-01-01

    This article presents a surgical technique for creation of a chin cleft in conjuction with advancement genioplasty. The technique is simple. However, the cleft should be made deeper than seems aesthetically desirable at the time of surgery because healing and muscle function will decrease the final depth of the depression. The depth that can be anticipated can be determined by the degree of tension of the subcutaneous sutures. Minor recontouring of bone may be necessary when there is a prominent bony apex to the symphysis. The actual chin cleft is a soft tissue phenomenon, rather than a bone cleavage point. It is not suggested that this procedure be offered to every patient, but familiarity with the technique is needed should there be a request to perform such surgery.

  2. Examine your orofacial cleft patients for Gorlin-Goltz syndrome.

    PubMed

    Lambrecht, J T; Kreusch, T

    1997-07-01

    The Gorlin-Goltz syndrome is characterized by four primary symptoms: multiple nevoid basal cell epitheliomas that usually undergo malignant transformation; jaw keratocysts that show constant growth; skeletal anomalies; and intracranial calcifications. A myriad of additional findings may also be noted. Among the most frequent are: palmar and plantar pits, a characteristic flattened facies and broad nasal root, frontal and parietal bossing, mandibular prognathia, hypertelorism, strabismus, dystrophia of the canthi, and clefts of the lip, alveolus, and/or palate. In this study, we review the literature and our 25 cases of Gorlin-Goltz syndrome patients, questioning their incidence of cleft formations (8.5%) as compared to the general population (0.1%). It is our contention that all patients who present with an orofacial cleft warrant deeper investigation as to the presence of additional signs indicative of Gorlin-Goltz syndrome. The nevi turn malignant with time, and thus, early diagnosis, follow-up, and treatment are imperative.

  3. Dislocated Tongue Muscle Attachment and Cleft Palate Formation.

    PubMed

    Kouskoura, T; El Fersioui, Y; Angelini, M; Graf, D; Katsaros, C; Chiquet, M

    2016-04-01

    In Pierre Robin sequence, a retracted tongue due to micrognathia is thought to physically obstruct palatal shelf elevation and thereby cause cleft palate. However, micrognathia is not always associated with palatal clefting. Here, by using the Bmp7-null mouse model presenting with cleft palate and severe micrognathia, we provide the first causative mechanism linking the two. In wild-type embryos, the genioglossus muscle, which mediates tongue protrusion, originates from the rostral process of Meckel's cartilage and later from the mandibular symphysis, with 2 tendons positive for Scleraxis messenger RNA. In E13.5 Bmp7-null embryos, a rostral process failed to form, and a mandibular symphysis was absent at E17.5. Consequently, the genioglossus muscle fibers were diverted toward the lingual surface of Meckel's cartilage and mandibles, where they attached in an aponeurosis that ectopically expressed Scleraxis. The deflection of genioglossus fibers from the anterior-posterior toward the medial-lateral axis alters their direction of contraction and necessarily compromises tongue protrusion. Since this muscle abnormality precedes palatal shelf elevation, it is likely to contribute to clefting. In contrast, embryos with a cranial mesenchyme-specific deletion of Bmp7 (Bmp7:Wnt1-Cre) exhibited some degree of micrognathia but no cleft palate. In these embryos, a rostral process was present, indicating that mesenchyme-derived Bmp7 is dispensable for its formation. Moreover, the genioglossus appeared normal in Bmp7:Wnt1-Cre embryos, further supporting a role of aberrant tongue muscle attachment in palatal clefting. We thus propose that in Pierre Robin sequence, palatal shelf elevation is not impaired simply by physical obstruction by the tongue but by a specific developmental defect that leads to functional changes in tongue movements.

  4. Cleft palate repair in Mongolia: Modified palatoplasty vs. conventional technique

    PubMed Central

    Gongorjav, N. Ayanga; Luvsandorj, Davaanyam; Nyanrag, Purevjav; Garidhuu, Ariuntuul; Sarah, E. Gardiner

    2012-01-01

    Context: Cleft palate repair is preferentially completed between 6 and 18 months of age, facilitating essential speech and language development along with swallowing and feeding reflexes, and avoiding otitis media and hearing loss. In Mongolia patients often present in early adulthood for cleft lip and/or palate management. Wider defects are associated with older age groups and have higher rates of fistula formation and wound dehiscence. These complications encouraged a modified surgical technique for improved outcomes. Aims: Objectives of this study were to compare the efficacy of three established palatoplasty techniques with our mongolian technique. Materials and Methods: A retrospective review of all palatoplasty cases, in non-syndromic cleft lip and/or palate patients, between January 1992 and November 2008 in Ulaanbaatar, Mongolia was performed. Exclusion criteria included those suffering from an acute or chronic respiratory illness at presentation or in the recovery period. We compared three established techniques with our modified technique. Outcome measures were duration of surgery, length of hospital stay and fistula rate. Statistical Analysis Used: Discrete data are reported as n (%), while continuous data are summarised as mean±SD. Differences in demographic, surgical and postoperative data were tested by independent t-test (continuous data) and Fisher's exact test (discrete data). Results: Palatoplasty was performed on 436 patients with an average age of 60 months. The modified palatoplasty technique had reduced surgical time (P value <0.01) and hospital stay (P value <0.01) and a 96% complication free wound recovery, compared with established techniques. Cleft lip and/or palate patients aged 42 months or older were more likely to be from the countryside. Conclusions: 86.9% of patients presenting for cleft palate repair had palatoplasty later than the recommended age. Geographical predilection for children older than six years, were more likely to

  5. Diversity of ticks (Acari: Ixodidae) infesting cheetahs (Acinoyx jubatus) at three breeding centres in South Africa and activity patterns of questing ticks.

    PubMed

    Golezardy, Habib; Oosthuizen, Marinda C; Penzhorn, Barend L

    2016-07-01

    Ticks were collected from 191 cheetahs at three breeding centres in North West and Limpopo Provinces, South Africa. Haemaphysalis elliptica, a common tick of large felids, was the most abundant species collected, while Amblyomma hebraeum and Rhipicephalus simus occurred in lower numbers. In addition to these three species, drag-sampling of the vegetation revealed the presence of Amblyomma marmoreum, Rhipicephalus (B.) decoloratus and Rhipicephalus zambeziensis. The presence of free-ranging antelopes, murid rodents and tortoises at the breeding centres probably contributed to the availability of immature tick stages on the vegetation. Diurnal and seasonal questing patterns of ixodid ticks were investigated at monthly intervals at the largest cheetah-breeding centre. Questing ticks were most abundant on the vegetation during the warm summer months. Most questing H. elliptica larvae and nymphs were collected from the vegetation in the early morning and late afternoon and fewest during the middle of the day. PMID:27020735

  6. Isolated cleft lip with generalized aggressive periodontitis: A rare entity

    PubMed Central

    Metgud, Renuka; Kumar, Ajay; Bhat, Kishore

    2015-01-01

    Oro-facial clefts are one of the most common birth defects and may be associated with other genetic anomalies. Aggressive periodontitis is a rare condition that progresses rapidly, but affects only a small percentage of the population. Most of the cases of aggressive periodontitis are familial. Even though, literature has documented the association of various genetic disorders with aggressive periodontitis, the aggressive periodontitis in patients with isolated cleft lip (CL) have never been addressed. Here, we report a rare case of isolated CL with generalized aggressive periodontitis. The concomitant presentation of isolated CL with aggressive periodontitis in an individual has clinical significance for multi-disciplinary care. PMID:25810600

  7. Simpson-Golabi-Behmel syndrome associated with cleft palate.

    PubMed

    Morita, Yoshihiro; Kimoto, Natsuko; Ogawa, Hisashi; Omata, Tetsuji; Morita, Nobuo

    2011-09-01

    We report a very rare case of anomaly in the maxillofacial region. This case is a patient with a cleft palate who had Simpson-Golabi-Behmel syndrome. This X-linked symptom was first described by Simpson et al in 1975 and is characterized by prenatal and postnatal overgrowth, as well as visceral and skeletal anomalies. The syndrome consists of a distinctive facial appearance with wide nasal bridge, anteverted nostrils, wide-open mouth, enlarged tongue, and large protruding maxilla and jaw. The cleft palate was repaired surgically using the push-back method. PMID:21959466

  8. Simpson-Golabi-Behmel syndrome associated with cleft palate.

    PubMed

    Morita, Yoshihiro; Kimoto, Natsuko; Ogawa, Hisashi; Omata, Tetsuji; Morita, Nobuo

    2011-09-01

    We report a very rare case of anomaly in the maxillofacial region. This case is a patient with a cleft palate who had Simpson-Golabi-Behmel syndrome. This X-linked symptom was first described by Simpson et al in 1975 and is characterized by prenatal and postnatal overgrowth, as well as visceral and skeletal anomalies. The syndrome consists of a distinctive facial appearance with wide nasal bridge, anteverted nostrils, wide-open mouth, enlarged tongue, and large protruding maxilla and jaw. The cleft palate was repaired surgically using the push-back method.

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

    PubMed

    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. PMID:1820390

  10. Harvey Cushing's Contributions to Plastic Surgery: Bilateral Cleft Lip Repair.

    PubMed

    Molendijk, Josher; Pendleton, Courtney; Rachwalski, Martin; Quinones-Hinojosa, Alfredo; Dorafshar, Amir H

    2014-01-01

    Harvey Cushing has been deemed by many as the neurosurgeon of the 20th century. Cushing's unknown contributions to the field of plastic and reconstructive surgery were only recently reported. Further review of his teaching and operative records, brought from Johns Hopkins to Yale University, revealed an unpublished case of bilateral cleft lip repair that he performed. In this article, we present in detail this comprehensive case and describe, with the help of his personal teaching notes and illustrations, how Cushing combined methods from world-renowned surgeons to approach bilateral cleft lip deformities. PMID:23551074

  11. Patterns of articulation abilities in speakers with cleft palate.

    PubMed

    Van Demark, D R; Morris, H L; Vandehaar, C

    1979-07-01

    The purpose of this study was to report the articulation scores of 351 subjects with cleft palate from the ages of 2-6 to 18-0. Analysis of the data indicate that, as a group, subjects with cleft palate are retarded in articulation skills. However, they continue to improve in this regard past the age at which normal speakers have achieved articulation maturation. This information should be compared with that acquired from other centers in order to determine how typical these findings are.

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

    PubMed

    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.

  13. CMCC Data Distribution Centre

    NASA Astrophysics Data System (ADS)

    Aloisio, Giovanni; Fiore, Sandro; Negro, A.

    2010-05-01

    The CMCC Data Distribution Centre (DDC) is the primary entry point (web gateway) to the CMCC. It is a Data Grid Portal providing a ubiquitous and pervasive way to ease data publishing, climate metadata search, datasets discovery, metadata annotation, data access, data aggregation, sub-setting, etc. The grid portal security model includes the use of HTTPS protocol for secure communication with the client (based on X509v3 certificates that must be loaded into the browser) and secure cookies to establish and maintain user sessions. The CMCC DDC is now in a pre-production phase and it is currently used only by internal users (CMCC researchers and climate scientists). The most important component already available in the CMCC DDC is the Search Engine which allows users to perform, through web interfaces, distributed search and discovery activities by introducing one or more of the following search criteria: horizontal extent (which can be specified by interacting with a geographic map), vertical extent, temporal extent, keywords, topics, creation date, etc. By means of this page the user submits the first step of the query process on the metadata DB, then, she can choose one or more datasets retrieving and displaying the complete XML metadata description (from the browser). This way, the second step of the query process is carried out by accessing to a specific XML document of the metadata DB. Finally, through the web interface, the user can access to and download (partially or totally) the data stored on the storage device accessing to OPeNDAP servers and to other available grid storage interfaces. Requests concerning datasets stored in deep storage will be served asynchronously.

  14. Investigations on the palatal rugae pattern in cleft patients. Part I: A morphological analysis.

    PubMed

    Kratzsch, H; Opitz, C

    2000-01-01

    The characteristics of the palatal rugae zone (number of rugae, relief type, posterior limitation) were investigated on the maxillary casts of 44 patients with unilateral cleft lip and palate and 28 patients with bilateral clefts by means of reflex microscopy, a three-dimensional, computer-assisted, touch-free measuring system for the metrical registration and analysis of the parameters directly on the maxillary casts for the segments of the 2 cleft groups. The features "number of palatal rugae" and "relief type" (primary rugae) were determined both before and after surgical repair of the cleft palate. Both segments in unilateral cleft lip and palate and both lateral segments in bilateral clefts most commonly had 4 to 5 palatal rugae. The number of rugae in cleft patients is thus in a range that other authors have reported for non-cleft individuals. Following palatal cleft repair, the rugae counts per segment decreased significantly in patients with unilateral and bilateral cleft lip and palate but the 3rd rugae was never lost after surgery. The relief type identified in unilateral and bilateral cleft lip and palate was the same as in isolated cleft palates and did not differ from that in non-cleft subjects. The posterior limitation of the palatal rugae zone was determined both in a tooth-defined manner and as an absolute linear distance (at all time points). The most frequent tooth-defined posterior limitation of the rugae zone in unilateral and bilateral clefts was the second deciduous molar, which is also the position identified for non-cleft individuals. The linear distance from the tuberosity line to the rugae zone increased in all segments of unilateral and bilateral clefts during the interval up to palatal cleft repair, indicating sagittal maxillary development in the posterior area of the palate. Surgical repair of the cleft palate resulted in a significant shortening of the distance in both segments of the unilateral cleft, most likely due to the

  15. GFA Taq I polymorphism and cleft lip with or without cleft palate (CL/P) risk

    PubMed Central

    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

  16. Lidar Calibration Centre

    NASA Astrophysics Data System (ADS)

    Pappalardo, Gelsomina; Freudenthaler, Volker; Nicolae, Doina; Mona, Lucia; Belegante, Livio; D'Amico, Giuseppe

    2016-06-01

    This paper presents the newly established Lidar Calibration Centre, a distributed infrastructure in Europe, whose goal is to offer services for complete characterization and calibration of lidars and ceilometers. Mobile reference lidars, laboratories for testing and characterization of optics and electronics, facilities for inspection and debugging of instruments, as well as for training in good practices are open to users from the scientific community, operational services and private sector. The Lidar Calibration Centre offers support for trans-national access through the EC HORIZON2020 project ACTRIS-2.

  17. STS in Engineering: The Teaching and Research Activities of the Centre for Technology and Social Development at the University of Toronto.

    ERIC Educational Resources Information Center

    Vanderburg, W. H.

    1998-01-01

    Describes the conceptual framework and three core courses of the certificate program in Preventive Engineering and Social Development at the Centre for Technology and Social Development at the University of Toronto. Preventive approaches examine how technology fits into, interacts with, and depends on human life, society, and the biosphere to…

  18. Morphometric analysis of brain shape in children with nonsyndromic cleft lip and/or palate.

    PubMed

    Chollet, Madeleine B; DeLeon, Valerie B; Conrad, Amy L; Nopoulos, Peg

    2014-12-01

    The purpose of this study was to test for differences in brain shape among children with cleft palate only (n = 22), children with cleft lip and palate (n = 35), and controls (n = 39) using Euclidean distance matrix analysis. Sixteen percent of interlandmark distances differed between children with cleft palate only and controls, 10% differed between children with cleft lip and palate and controls, and 10% differed between children with cleft palate only and children with cleft lip and palate. Major differences in brain shape associated with cleft lip and/or palate included posterior expansion of the occipital lobe, reorientation of the cerebellum, heightened callosal midbody, and posterior displacement of the caudate nucleus and thalamus. Differences in brain shape unique to cleft palate only and to cleft lip and palate were also identified. These results expand upon previous volumetric studies on brain morphology in individuals with cleft lip and/or palate and provide additional evidence that the primary defect in cleft lip and/or palate results in both facial and brain dysmorphology.

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

    PubMed

    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. PMID:23434237

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

    PubMed

    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.

  1. Cleft Lip and Palate Associated with Other Malformations in a Neotropical Primate (Saimiri ustus)

    PubMed Central

    Goldschmidt, Beatriz; Lopes, Claudia AA; Moura, Marina; Nogueira, Denise M; Gonçalves, Miguel AB; Fasano, Daniele M; Andrade, Marcia CR; Nascimento, Laine WF; Marinho, Antonio M

    2010-01-01

    Cleft lip (with or without cleft palate) has been documented in several species of nonhuman primates, which in general are susceptible at similar doses and stages of gestation to the same teratogens as humans. Cleft lip can be unilateral or bilateral, isolated, syndromic, familial, or genetic. Here we report the first case of syndromic cleft lip and palate in a male bare-eared squirrel monkey (Saimiri ustus). Associated with the orofacial clefts, the monkey manifested absence of bones, malformation of vertebrae L3, only 4 fingers in each hand, and shortening of tendons leading to inflection of the hands and fingers. Previous reports describing cleft lip and palate in other squirrel monkeys (Saimiri sciureus) in other breeding units have suggested consanguineous mating as a possible cause. Although the etiology in the case we present is unknown, we discuss factors associated with orofacial clefts in humans and various nonhuman primates. PMID:20587169

  2. Management of cleft lip and palate.

    PubMed

    Habel, A; Sell, D; Mars, M

    1996-04-01

    The complex nature of treatment for CL/P, a condition that requires a large multidisciplinary team treating patients from birth to maturity, has been outlined. Subjecting centres' outcomes to audit should precede heeding the current siren calls for paediatricians to refer children exclusively to a particular surgical speciality. A growing body of evidence has shown a close correlation between quality of outcome and the availability of high volume centralised care by dedicated teams, as has been proved and accepted for years in other fields such as surgery in infancy, childhood malignancies, and cystic fibrosis.

  3. Wycheproof Education Centre.

    ERIC Educational Resources Information Center

    Sweetnam and Godfrey, Melbourne (Australia).

    The Wycheproof township in New South Wales (Australia) is the regional center for a grain farming community. The Wycheproof Education Centre was formed by the merger of a separate primary and secondary school (on one site with existing buildings), into a single governing body that is educationally structured into junior, middle, and senior…

  4. Implementing Responsibility Centre Budgeting

    ERIC Educational Resources Information Center

    Vonasek, Joseph

    2011-01-01

    Recently, institutes of higher education (universities) have shown a renewed interest in organisational structures and operating methodologies that generate productivity and innovation; responsibility centre budgeting (RCB) is one such process. This paper describes the underlying principles constituting RCB, its origin and structural elements, and…

  5. Discovering a Discovery Centre

    ERIC Educational Resources Information Center

    McCullagh, John; Stewart, James; Greenwood, Julian

    2007-01-01

    There has recently been a growth in the popularity of "science centres" and this development provides an excellent opportunity to support the primary science curriculum. Their use is therefore well worth including within initial teacher education courses. Hence, undergraduate student teachers at Stranmillis University College Belfast may now…

  6. The Iranian Documentation Centre.

    ERIC Educational Resources Information Center

    Harvey, John F.

    The purpose of the Iranian Documentation Centr (Irandoc) was to collect that portion of the world's literature which was pertinent to Iran's research interests, to organize that material, and to promote its use by Iranian researchers. Stated more succinctly, Irandoc's purpose was to obtain ready access to the world's scientific literature in order…

  7. Maple Leaf Outdoor Centre.

    ERIC Educational Resources Information Center

    Maguire, Molly; Gunton, Ric

    2000-01-01

    Maple Leaf Outdoor Centre (Ontario) has added year-round outdoor education facilities and programs to help support its summer camp for disadvantaged children. Schools, youth centers, religious groups, and athletic teams conduct their own programs, collaborate with staff, or use staff-developed programs emphasizing adventure education and personal…

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

    PubMed Central

    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

  9. Micronutrients and oral clefts: a case-control study.

    PubMed

    McKinney, C M; Chowchuen, B; Pitiphat, W; Derouen, T; Pisek, A; Godfrey, K

    2013-12-01

    Little is known about oral clefts in developing countries. We aimed to identify micronutrient-related and environmental risk factors for oral clefts in Thailand. We tested hypotheses that maternal exposure during the periconceptional period to multivitamins or liver consumption would decrease cleft lip with or without cleft palate (CL ± P) risk and that menstrual regulation supplements would increase CL ± P risk. We conducted a multisite hospital-based case-control study in Thailand. We enrolled cases with CL ± P and 2 live births as controls at birth from the same hospital. Mothers completed a questionnaire. Conditional logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs). Eighty-six cases and 172 controls were enrolled. Mothers who took a vitamin (adjusted OR, 0.39; 95% CI: 0.16, 0.94) or ate liver (adjusted OR, 0.26; 95% CI: 0.12, 0.57) were less likely than those who did not to have an affected child. Mothers who took a menstrual regulation supplement were more likely than mothers who did not to have an affected child. Findings did not differ for infants with a family history of other anomalies or with isolated CL ± P. If replicated, our finding that liver decreases CL ± P risk could offer a low-cost primary prevention strategy. PMID:24097855

  10. A Study of Cleft Palate Speakers with Marginal Velopharyngeal Competence.

    ERIC Educational Resources Information Center

    Hardin, M. A.; And Others

    1986-01-01

    The study examined a previously hypothesized model for a subgroup of cleft palate speakers with marginal velopharyngeal competence during speech. Evaluation of 52 5- and 6-year-olds with appropriate lateral X-ray results indicated that most met fewer than three of the other five criteria required by the model. (Author/DB)

  11. Speech Analyses of Four Children with Repaired Cleft Palates.

    ERIC Educational Resources Information Center

    Powers, Gene R.; And Others

    1990-01-01

    Spontaneous speech samples were collected from four three-year olds with surgically repaired cleft palates. Analyses showed that subjects were similar to one another with respect to their phonetic inventories but differed considerably in the frequency and types of phonological processes used. (Author/JDD)

  12. Observations on Hearing Levels of Preschool Cleft-Palate Children

    ERIC Educational Resources Information Center

    Harrison, Robert J.; Philips, Betty Jane

    1971-01-01

    Pure-tone audiometry performed monthly on nine preschool cleft palate children showed the incidence of hearing loss ranging from 25 to 71 percent from month to month, with all children experiencing a significant hearing loss at some time. (Author/KW)

  13. Helping the Child with a Cleft Palate in Your Classroom.

    ERIC Educational Resources Information Center

    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.…

  14. Cleft Palate Repair Using a Double Opposing Z-Plasty.

    PubMed

    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. PMID:27315321

  15. Phonological Patterns Observed in Young Children with Cleft Palate.

    ERIC Educational Resources Information Center

    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…

  16. Study of oral clefts: Indication of gene-environment interaction

    SciTech Connect

    Hwang, S.J.; Beaty, T.H.; Panny, S.

    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.

  17. Acceptance of Disability by Teenagers with Oral-Facial Clefts

    ERIC Educational Resources Information Center

    Starr, Philip; Heiserman, Kitty

    1977-01-01

    This study ascertains whether the findings of Linkowski and Dunn (1974) were applicable to a sample of teenagers with oral-facial clefts. The following brief description of the nature of this birth defect and the treatment involved will help to explain why these patients are potential candidates for rehabilitation. (Author)

  18. Quantitative assessment of healthy and reconstructed cleft lip using ultrasonography

    PubMed Central

    Devadiga, Sumana; Desai, Anil Kumar; Joshi, Shamsunder; Gopalakrishnan, K.

    2016-01-01

    Purpose: This study is conducted to investigate the feasibility of echographic imaging of tissue thickness of healthy and reconstructed cleft lip. Design: Prospective study. Materials and Methods: The study was conducted in SDM Craniofacial Unit, Dharwad and was approved by Local Institutional Review Board. A total of 30 patients, age group ranging from 4 to 25 years, of which 15 postoperative unilateral cleft lip constituted the test group. The remaining 15 with no cleft deformities, no gross facial asymmetry, constituted the control group. The thickness of the mucosa, submucosa, muscle and full thickness of the upper lip were measured with the transversal images using ultrasonography at midpoint of philtrum, right and left side philtral ridges and vermillion border, at 1, 3, 6 months interval. Results: There was an increase in muscle thickness at the vermillion border (mean = 6.9 mm) and philtral ridge (5.9 mm). Equal muscle thickness were found between the normal and test group at 6 months follow-up in a relaxed position, which was statistically significant (P = 0.0404). Conclusion: Quantitative assessment of thickness and echo levels of various lip tissues are done with proper echographic calibration. Diagnostic potentials of this method for noninvasive evaluation of cleft lip reconstructions were achieved by this study. PMID:27134448

  19. Topographic Mapping of the Synaptic Cleft into Adhesive Nanodomains.

    PubMed

    Perez de Arce, Karen; Schrod, Nikolas; Metzbower, Sarah W R; Allgeyer, Edward; Kong, Geoffrey K-W; Tang, Ai-Hui; Krupp, Alexander J; Stein, Valentin; Liu, Xinran; Bewersdorf, Jörg; Blanpied, Thomas A; Lucić, Vladan; Biederer, Thomas

    2015-12-16

    The cleft is an integral part of synapses, yet its macromolecular organization remains unclear. We show here that the cleft of excitatory synapses exhibits a distinct density profile as measured by cryoelectron tomography (cryo-ET). Aiming for molecular insights, we analyzed the synapse-organizing proteins Synaptic Cell Adhesion Molecule 1 (SynCAM 1) and EphB2. Cryo-ET of SynCAM 1 knockout and overexpressor synapses showed that this immunoglobulin protein shapes the cleft's edge. SynCAM 1 delineates the postsynaptic perimeter as determined by immunoelectron microscopy and super-resolution imaging. In contrast, the EphB2 receptor tyrosine kinase is enriched deeper within the postsynaptic area. Unexpectedly, SynCAM 1 can form ensembles proximal to postsynaptic densities, and synapses containing these ensembles were larger. Postsynaptic SynCAM 1 surface puncta were not static but became enlarged after a long-term depression paradigm. These results support that the synaptic cleft is organized on a nanoscale into sub-compartments marked by distinct trans-synaptic complexes.

  20. Cleft Palate induced by Sulfur Mustard in mice fetus

    PubMed Central

    Hassanzadeh-Nazarabadi, Mohammad; Sanjarmoosavi, Nasrin; Sanjarmoosavi, Naser; Shekouhi, Sahar

    2012-01-01

    Sulfur Mustard (SM) is a chemical warfare agent which was widely used in the World War I and more recently during Gulf war in the early 1980s'. SM is a strong alkylating agent with known mutagenic and carcinogenic effects; but only few studies have been published on its teratogenicity. Since SM has been widely used as a chemical weapon by the Iraqi regime against the Iranian soldiers as well as the civilian population particularly pregnant women in the border area; therefore, the investigation of SM adverse effects on cleft malformations which is one of the most frequent congenital anomalies is considered in this study. An experimental work has been carried out in embryopathy in mouse with intraperitoneal injection of 0.75 and 1.5 mg/kg SM at different periods of gestation. Cleft lip and palate were examined by stereomicroscopy. Current data demonstrate that exposure with SM on the 11th day of gestation can increase the incidence of cleft defects in comparison with control group (P<0.001). These results also show that SM treatment in GD 11 and 13 can lead to more anomalies compared with GD 14 (P<0.001). They also show that the teratogenic effects of SM are restrictively under the influence of the threshold dose and time of gestation. The present results suggest that exposure to sufficient doses of SM on critical days of gestation may increase the risk of congenital cleft malformations. PMID:24551757

  1. One-stage palate repair improves speech outcome and early maxillary growth in patients with cleft lip and palate.

    PubMed

    Pradel, W; Senf, D; Mai, R; Ludicke, G; Eckelt, U; Lauer, G

    2009-12-01

    There are several types of palatal surgery; each cleft centre chooses its own technique based on experience and treatment philosophy. The aim of this study was to compare speech outcome and maxillary growth in children with cleft lip and palate deformity after palate repair with either a one-stage or a two- stage procedure and to identify the better treatment protocol. In 24 children, speech outcome was assessed regarding resonance, nasal escape, compensatory articulations, facial grimace, and spontaneous speech. In addition, plaster models of 15 children were compared. In 12 children, a two-stage procedure was performed (group A): at the age of 9-12 months, an intravelar veloplasty for repair of the soft palate, and at the age of 24-36 months a bipedicled flap closure of the hard palate. In 12 children, the same techniques were used in a one-stage procedure, at the age of 9-12 months (group B). The children of group B showed less altered resonance and less nasal emission at 4 years of age compared to the children of group A. At 6 years, the children of group A had improved their speech skills, but they did not equal the results of group B. In the study models of group A at age 6 years, the transverse dimension (anterior and posterior width of the dental arch) was smaller than in the models of group B. The one-stage repair of cleft palate at the age of 9-12 months seems to have a more positive influence on speech development and early maxillary growth than the two-stage procedure. PMID:20400790

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

    PubMed Central

    2011-01-01

    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. PMID:22182590

  3. Snail family members and cell survival in physiological and pathological cleft palates.

    PubMed

    Martínez-Alvarez, Concepción; Blanco, María J; Pérez, Raquel; Rabadán, M Angeles; Aparicio, Marta; Resel, Eva; Martínez, Tamara; Nieto, M Angela

    2004-01-01

    Palate fusion is a complex process that involves the coordination of a series of cellular changes including cell death and epithelial to mesenchymal transition (EMT). Since members of the Snail family of zinc-finger regulators are involved in both triggering of the EMT and cell survival, we decided to study their putative role in palatal fusion. Furthermore, Snail genes are induced by transforming growth factor beta gene (TGF-beta) superfamily members, and TGF-beta(3) null mutant mice (TGF-beta(3)-/-) show a cleft palate phenotype. Here we show that in the wild-type mouse at the time of fusion, Snail is expressed in a few cells of the midline epithelial seam (MES), compatible with a role in triggering of the EMT in a small subpopulation of the MES. We also find an intriguing relationship between the expression of Snail family members and cell survival associated to the cleft palate condition. Indeed, Snail is expressed in the medial edge epithelial (MEE) cells in TGF-beta(3)-/-mouse embryo palates, where it is activated by the aberrant expression of its inducer, TGF-beta(1), in the underlying mesenchyme. In contrast to Snail-deficient wild-type pre-adhesion MEE cells, Snail-expressing TGF-beta(3) mutant MEE cells survive as they do their counterparts in the chick embryo. Interestingly, Slug is the Snail family member expressed in the chick MEE, providing another example of interchange of Snail and Slug expression between avian and mammalian embryos. We propose that in the absence of TGF-beta(3), TGF-beta(1) is upregulated in the mesenchyme, and that in both physiological (avian) and pathological (TGF-beta(3)-/-mammalian) cleft palates, it induces the expression of Snail genes promoting the survival of the MEE cells and permitting their subsequent differentiation into keratinized stratified epithelium.

  4. DLX4 is associated with orofacial clefting and abnormal jaw development

    PubMed Central

    Wu, Di; Mandal, Shyamali; Choi, Alex; Anderson, August; Prochazkova, Michaela; Perry, Hazel; Gil-Da-Silva-Lopes, Vera L.; Lao, Richard; Wan, Eunice; Tang, Paul Ling-Fung; Kwok, Pui-yan; Klein, Ophir; Zhuan, Bian; Slavotinek, Anne M.

    2015-01-01

    Cleft lip and/or palate (CL/P) are common structural birth defects in humans. We used exome sequencing to study a patient with bilateral CL/P and identified a single nucleotide deletion in the patient and her similarly affected son—c.546_546delG, predicting p.Gln183Argfs*57 in the Distal-less 4 (DLX4) gene. The sequence variant was absent from databases, predicted to be deleterious and was verified by Sanger sequencing. In mammals, there are three Dlx homeobox clusters with closely located gene pairs (Dlx1/Dlx2, Dlx3/Dlx4, Dlx5/Dlx6). In situ hybridization showed that Dlx4 was expressed in the mesenchyme of the murine palatal shelves at E12.5, prior to palate closure. Wild-type human DLX4, but not mutant DLX4_c.546delG, could activate two murine Dlx conserved regulatory elements, implying that the mutation caused haploinsufficiency. We showed that reduced DLX4 expression after short interfering RNA treatment in a human cell line resulted in significant up-regulation of DLX3, DLX5 and DLX6, with reduced expression of DLX2 and significant up-regulation of BMP4, although the increased BMP4 expression was demonstrated only in HeLa cells. We used antisense morpholino oligonucleotides to target the orthologous Danio rerio gene, dlx4b, and found reduced cranial size and abnormal cartilaginous elements. We sequenced DLX4 in 155 patients with non-syndromic CL/P and CP, but observed no sequence variants. From the published literature, Dlx1/Dlx2 double homozygous null mice and Dlx5 homozygous null mice both have clefts of the secondary palate. This first finding of a DLX4 mutation in a family with CL/P establishes DLX4 as a potential cause of human clefts. PMID:25954033

  5. Determining the intracellular transport mechanism of a cleft-[2]rotaxane.

    PubMed

    Bao, Xiaofeng; Isaacsohn, Idit; Drew, Angela F; Smithrud, David B

    2006-09-20

    Rotaxanes are a class of interlocked compounds that have been extensively investigated for their potential utility as switches or sensors. We recently demonstrated that rotaxanes have further application as agents that transport material into cells. This novel finding prompted our investigation into the mechanism by which rotaxanes are involved in transmembrane transport. Two-dimensional NMR analysis showed that a cleft-containing rotaxane exists in two dominant conformations ("closed" and "open"). To determine the importance of conformational flexibility on the ability of the rotaxanes to bind guests and transport material into cells, the rotaxane was chemically modified to lock it in the closed conformation. Charged guests interact less favorably with the locked rotaxane, as compared to the unmodified rotaxane, both in an aqueous solution and in DMSO. In a chloroform solution, both rotaxanes bind the guests with similar affinities. The locked rotaxane exhibited a reduced capacity to transport a fluoresceinated peptide into cells, whereas the unmodified rotaxane efficiently delivers the peptide. Flow cytometry experiments demonstrated that a high percentage of the cells contained the delivered peptide (89-98%), the level of delivery is concentration dependent, and the rotaxanes and peptide have low toxicity. Cellular uptake of the peptide was largely temperature and ATP independent, suggesting that the rotaxane-peptide complex passes through the cellular membrane without requiring active cell-mediated processes. The results show that the sliding motion of the wheel is necessary for the delivery of materials into cells and can enhance the association of guests. These studies demonstrate the potential for rotaxanes as a new class of mechanical devices that deliver a variety of therapeutic agents into targeted cell populations.

  6. [The impact of cleft lip and palate on the parent-child relationships].

    PubMed

    Grollemund, B; Galliani, E; Soupre, V; Vazquez, M-P; Guedeney, A; Danion, A

    2010-09-01

    child's life cycle (when starting at kindergarten where the child socializes for the very first time, at the start of the first year in primary school where pupils learn how to read and then at the start of secondary school which is yet another crucial step for the child due to the adolescence period). It is also obvious that an adult affected by CLP has a particularly heavy medical history as the patient had to go through various treatments and surgical interventions during his childhood and adolescence, which is even sometimes maintained at adulthood. Repeated appointments with the different specialists involved in their treatment punctuate their life as well as their parents'. This medico-surgical setting for facial malformations i.e. the features of the patient's face which are largely involved in their interpersonal relationships and the expression of emotions can have serious consequences. Most children presenting with CLPs and living in France benefit from regular follow-up schemes carried out in competent reference centres by a multidisciplinary team whose members represent each of the fields of expertise involved in the correction of this malformation: infantile and maxillofacial surgery, otorhinolaryngology (or ENT), ortho-phony and dentofacial orthopedics. Only the two French reference centres benefit from the permanent presence of a psychologist. This raises the question whether every care centre should take into care these children and their parents' mental health by offering psychological support during the course of the therapeutic follow-up scheme for these children, and this from an early age on as is recommended by the American Cleft Palate Craniofacial Association.

  7. [The impact of cleft lip and palate on the parent-child relationships].

    PubMed

    Grollemund, B; Galliani, E; Soupre, V; Vazquez, M-P; Guedeney, A; Danion, A

    2010-09-01

    child's life cycle (when starting at kindergarten where the child socializes for the very first time, at the start of the first year in primary school where pupils learn how to read and then at the start of secondary school which is yet another crucial step for the child due to the adolescence period). It is also obvious that an adult affected by CLP has a particularly heavy medical history as the patient had to go through various treatments and surgical interventions during his childhood and adolescence, which is even sometimes maintained at adulthood. Repeated appointments with the different specialists involved in their treatment punctuate their life as well as their parents'. This medico-surgical setting for facial malformations i.e. the features of the patient's face which are largely involved in their interpersonal relationships and the expression of emotions can have serious consequences. Most children presenting with CLPs and living in France benefit from regular follow-up schemes carried out in competent reference centres by a multidisciplinary team whose members represent each of the fields of expertise involved in the correction of this malformation: infantile and maxillofacial surgery, otorhinolaryngology (or ENT), ortho-phony and dentofacial orthopedics. Only the two French reference centres benefit from the permanent presence of a psychologist. This raises the question whether every care centre should take into care these children and their parents' mental health by offering psychological support during the course of the therapeutic follow-up scheme for these children, and this from an early age on as is recommended by the American Cleft Palate Craniofacial Association. PMID:20685092

  8. The Effect of Cleft Palate Repair on Contractile Properties of Single Permeabilized Muscle Fibers From Congenitally Cleft Goats Palates

    Technology Transfer Automated Retrieval System (TEKTRAN)

    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...

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

    PubMed Central

    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

  10. Whorl Patterns on the Lower Lip are Associated with Nonsyndromic Cleft Lip with or without Cleft Palate

    PubMed Central

    Neiswanger, Katherine; Chirigos, Kevin W.; Klotz, Cherise M.; Cooper, Margaret E.; Bardi, Kathleen M.; Brandon, Carla A.; Weinberg, Seth M.; Vieira, Alexandre R.; Martin, Rick A.; Czeizel, Andrew E.; Castilla, Eduardo E.; Poletta, Fernando A.; Marazita, Mary L.

    2009-01-01

    Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect due to both genetic and environmental factors. Whorl lip print patterns are circular grooves on the central upper lip and/or the left and right lower lip. To determine if whorls are more common in families with CL/P than in controls, the Pittsburgh Orofacial Cleft Study collected lip prints from over 450 subjects, i.e., individuals with CL/P, their relatives, and unrelated controls—from the U.S., Argentina, and Hungary. Using a narrow definition of lower-lip whorl, the frequency of whorls in the U.S sample was significantly elevated in cleft individuals and their family members, compared to unrelated controls (14.8% and 13.2% versus 2.3%; P = 0.003 and 0.001, respectively). Whorls were more frequent in CL/P families from Argentina than in CL/P families from the U.S. or Hungary. If these results are confirmed, whorl lip print patterns could be part of an expanded phenotypic spectrum of nonsyndromic CL/P. As such, they may eventually be useful in a clinical setting, allowing recurrence risk calculations to incorporate individual phenotypic information in addition to family history data. PMID:19921634

  11. An evaluation of factors influencing feeding in babies with a cleft palate with and without a cleft lip.

    PubMed

    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. PMID:23439590

  12. Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing

    PubMed Central

    Liu, Ya-Peng; Xu, Li-Fang; Wang, Qi; Zhou, Xiao-Long; Zhou, Ji-Long; Pan, Chen; Zhang, Jin-Peng; Wu, Qin-Rong; Li, Yi-Qun; Xia, Yu-Juan; Peng, Xiu; Zhang, Mei-Rong; Yu, Hong-Min

    2015-01-01

    Background Non-syndromic cleft lip with or without cleft palate (NSCL/P) is among the most common congenital malformations. The etiology of NSCL/P remains poorly characterized owing to its complex genetic heterogeneity. The objective of this study was to identify genetic variants that increase susceptibility to NSCL/P. Material and Methods Whole-exome sequencing (WES) was performed in 8 fetuses with NSCL/P in China. Bioinformatics analysis was performed using commercially available software. Variants detected by WES were validated by Sanger sequencing. Results By filtering out synonymous variants in exons, we identified average 8575 nonsynonymous single nucleotide variants (SNVs). We subsequently compared the SNVs against public databases including NCBI dbSNP build 135 and 1000 Genomes Project and obtained an average of 203 SNVs. Total 12 reported candidate genes were verified by Sanger sequencing. Sanger sequencing also confirmed 16 novel SNVs shared by two or more samples. Conclusions We have found and confirmed 16 susceptibility genes responsible for NSCL/P, which may play important role in the etiology of NSCL/P. The susceptibility genes identified in this study will not only be useful in revealing the etiology of NSCL/P but also in diagnosis and treatment of the patients with NSCL/P. Key words:Non-syndromic cleft lip with or without cleft palate, whole-exome sequencing, sanger sequencing, susceptibility gene, single nucleotide variants (SNVs). PMID:26449438

  13. Cone-Beam Computed Tomography Assessment of Lower Facial Asymmetry in Unilateral Cleft Lip and Palate and Non-Cleft Patients with Class III Skeletal Relationship

    PubMed Central

    Lin, Yifan; Chen, Gui; Fu, Zhen; Ma, Lian; Li, Weiran

    2015-01-01

    Introduction 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. Methods 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. Results 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). Conclusion 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. PMID:26237311

  14. Passive Smoking in the Etiology of Non-Syndromic Orofacial Clefts: A Systematic Review and Meta-Analysis

    PubMed Central

    Sabbagh, Heba J.; Hassan, Mona Hassan Ahmed; Innes, Nicola P. T.; Elkodary, Heba M.; Little, Julian; Mossey, Peter A.

    2015-01-01

    Background Studies have found a consistent positive association between maternal smoking and non-syndromic orofacial clefts (NSOFC). However, no comprehensive assessment of the association between NSOFC and passive smoking has been undertaken. This systematic review and meta-analysis explores the relationship between maternal passive smoking and NSOFC, and compares the associations between passive and active smoking. Methods and Findings Search strategy, inclusion / exclusion criteria, and data extraction from studies reporting maternal passive smoking and NSOFC was implemented without language restrictions. Risks of bias in the identified studies were assessed and this information was used in sensitivity analyses to explain heterogeneity. Meta-analysis and meta-regression of the extracted data were performed. Egger's test was used to test for small study effects. Fourteen eligible articles were identified. Maternal passive smoking exposure was associated with a twofold increase in risk of NSOFC (odds ratio: 2.11, 95% confidence interval: 1.54–2.89); this was apparent for both cleft lip with and without palate (OR: 2.05, 95% CI: 1.27–3.3) and cleft palate (OR: 2.11, 95% CI: 1.23–3.62). There was substantial heterogeneity between studies. In the studies that provided data enabling crude and adjusted odd ratios to be compared, adjustment for potential confounders attenuated the magnitude of association to about a 1.5-fold increase in risk. Conclusion Overall, maternal passive smoking exposure results in a 1.5 fold increase in risk of NSOFC, similar to the magnitude of risk reported for active smoking, but there is marked heterogeneity between studies. This heterogeneity is not explained by differences in the distribution of cleft types, adjustment for covariates, broad geographic region, or study bias/quality. This thorough meta-analysis provides further evidence to minimize exposure to environmental tobacco smoke in policy making fora and in health promotion

  15. The functional EGF+61 polymorphism and nonsyndromic oral clefts susceptibility in a Brazilian population.

    PubMed

    Falagan-Lotsch, Priscila; Lopes, Talíria Silva; Küchler, Erika Calvano; Tannure, Patrícia Nivoloni; Costa, Marcelo de Castro; Amorim, Lidia Maria da Fonte de; Granjeiro, José Mauro

    2015-01-01

    Nonsyndromic oral clefts are considered a problem of public health in Brazil, presenting a multifactorial etiology that involves genetic and environmental components, such as maternal alcohol consumption. Several candidate genes have been investigated to identify some association with nonsyndromic clefts risk. The epidermal growth factor (EGF) gene is implicated in the normal craniofacial development and its functional +61 A>G polymorphism has been related to cancer susceptibility. It has been suggested that cancer and oral clefts may share the same molecular pathways.Objective Our goal was to evaluate the association between the EGF+61 A>G polymorphism and nonsyndromic oral clefts susceptibility.Material and Methods The case-control study included 218 cleft cases and 253 controls from Brazil. The control group was comprised of individuals without congenital malformations, dental anomalies and family history of clefts. The cleft phenotypes and subphenotypes were determined based on clinical examination. Genomic DNA was extracted from oral mucosa cells obtained by mouthwash. The EGF+61 A>G polymorphism genotype was determined by polymerase chain reaction-restriction fragment length polymorphism.Results We noticed the association between maternal alcohol consumption during pregnancy and cleft occurrence. The A allele and AA genotype were over-represented in cleft cases compared with control group when we considered the bilateral cleft lip with or without cleft palate (CL±P) cases, cleft cases with tooth agenesis and cleft cases presenting family history of cleft, but the differences were not statistically significant. Contradictorily, the G allele was higher in cleft palate only (CP) cases than in control group, showing a borderline p value. Comparing the different cleft phenotypes, we observed statistical differences between CP and CL±P cases. Our data suggest the EGF+61 A>G polymorphism was not related with nonsyndromic oral clefts susceptibility in a Brazilian

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

    SciTech Connect

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

    1992-12-01

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

  17. Prevalence of dental anomalies of number in different subphenotypes of isolated cleft palate

    PubMed Central

    Schwartz, João Paulo; Somensi, Daniele Salazar; Yoshizaki, Priscila; Reis, Luciana Laís Savero; Lauris, Rita de Cássia Moura Carvalho; da Silva Filho, Omar Gabriel; Dalbén, Gisele; Garib, Daniela Gamba

    2014-01-01

    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. PMID:24713560

  18. Clinical Outcomes of Primary Palatal Surgery in Children with Nonsyndromic Cleft Palate with and without Lip

    PubMed Central

    Ha, Seunghee; Koh, Kyung S.; Moon, Heewon; Jung, Seungeun; Oh, Tae Suk

    2015-01-01

    This study presents clinical outcomes of primary cleft palate surgery, including rate of oronasal fistula development, rate of velopharyngeal insufficiency (VPI) requiring secondary surgery, and speech outcomes. We examined the effect of cleft type on the clinical outcomes. Retrospective analysis was performed using clinical records of all patients who received a primary palatoplasty at the Cleft Palate Clinic at Seoul Asan Medical Center, South Korea, between 2007 and 2012. The study included 292 patients with nonsyndromic overt cleft palate (±cleft lip). The results revealed that the rate of oronasal fistula was 7.9% and the incidence of VPI based on the rate of secondary palatal surgery was 19.2%. The results showed that 50.3% of all the patients had received speech therapy and 28.8% and 51.4% demonstrated significant hypernasality and articulatory deficits, respectively. The results of the rate of VPI and speech outcomes were significantly different in terms of cleft type. Except for the rate of oronasal fistula, patients with cleft palate generally exhibited better clinical outcomes compared to those with bilateral or unilateral cleft lip and palate. This study suggests that several factors, including cleft type, should be identified and comprehensively considered to establish an optimal treatment regimen for patients with cleft palate. PMID:26273593

  19. Prevalence of Associated Anomalies in Cleft Lip and/or Palate Patients

    PubMed Central

    Abdollahi Fakhim, Shahin; Shahidi, Nikzad; Lotfi, Alireza

    2016-01-01

    Introduction: Orofacial clefts are among the most common congenital anomalies. Patients presenting with orofacial clefts often require surgery or other complex procedures. A cleft lip or palate can be a single anomaly or a part of multiple congenital anomalies. The reported prevalence of cleft disease and associated anomalies varies widely across the literature, and is dependent on the diagnostic procedure used. In this study we determined the prevalence of associated anomalies in patients with a cleft lip and/or palate, with a specific focus on cardiac anomalies. Materials and Methods: In this cross-sectional study, 526 patients with a cleft lip and /or palate admitted to the children’s referral hospital between 2006 and 2011 were evaluated. All associated anomalies were detected and recorded. Patient information collected included age, gender, type and side of cleft, craniofacial anomalies and presence of other anomalies, including cardiac anomalies. Data were analyzed using SPSS version 16. Results: Of the 526 patients enrolled in the study, 58% (305) were male and 42% (221) were female. In total, 75% of patients (396) were aged between 4 and 8 years and 25% (130) were aged less than 4 years. The most common cleft type in our study was bilateral cleft palate. The most commonly associated anomaly among cleft patients, in 12% of cleft patients, was a cardiac anomaly. The most common cardiac anomaly was atrial septal defect (ASD). Conclusion: The prevalence of associated anomalies among orofacial cleft patients is high. The most common associated anomaly is cardiac anomaly, with ASD being the most common cardiac anomaly. There are no significant relationships between type of cleft and associated cardiac anomalies. PMID:27280100

  20. International Seismological Centre

    USGS Publications Warehouse

    Spall, H.; Hughes, A.

    1979-01-01

    The International Seismological Centre had its origins when the British seismologist Professor John Milne returned to England from Japan in 1895 to retire at Shide on the Isle of Eight. In cooperation with the British Association for the Advancement of Science, Milne had set up a number of seismographic stations around the world and, while Tokyo, had published a Catalogue of 8,33 Earthquakes Recorded in Japan, 1885-1892. 

  1. Pre-speech in children with cleft lip and palate or cleft palate only: phonetic analysis related to morphologic and functional factors.

    PubMed

    Lohmander-Agerskov, A; Söderpalm, E; Friede, H; Persson, E C; Lilja, J

    1994-07-01

    Pre-speech in 35 children with clefts of the lip and palate or palate only were analyzed for place and manner of articulation. Transcriptions were made from tape recorded babbling sequences. Two children without clefts were used as reference. All of the children with clefts were treated according to a regimen of early surgical repair of the velum cleft and delayed closure of the cleft in the hard palate. The frequency of selected phonetic features was calculated. Correlations between phonetic/perceptual and functional and morphological factors were tested. Supraglottal articulation dominated among all the children indicating a sufficient velopharyngeal mechanism. The results also showed correlations between cleft type and place of articulation. Anteriorly placed sounds (i.e., bilabial, dental, and alveolar sounds) occurred frequently among the children with cleft palate only and in the noncleft children. In children with cleft lip and palate, posteriorly placed articulations predominated. It was postulated that early intervention may have a positive effect on articulatory development.

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

    SciTech Connect

    Shaw, D.; Field, L. ); Ray, A. ); Marazita, M. )

    1993-11-01

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

  3. Epidemiology of orofacial clefts in the East of ireland in the 25-year period 1984-2008.

    PubMed

    McDonnell, Robert; Owens, Miriam; Delany, Caroline; Earley, Michael; McGillivary, Anne; Orr, David J; Duggan, Laura

    2014-07-01

    Objective : To describe the epidemiology of orofacial clefts in the east of Ireland. Design and Setting : A descriptive epidemiologic study on 851 cases of orofacial cleft identified over a 25-year period from 1984 to 2008 from more than 500,000 births. Results : There were 438 (51.5%) cases of cleft lip with or without cleft palate and 413 (48.5%) cases of cleft palate. The total birth prevalence was 16.0 per 10,000 births for all orofacial clefts, 8.2 for cleft lip with or without cleft palate, and 7.8 for cleft palate. Of all cases, 63.7% (542/851) occurred as isolated anomalies, 21.5% (183/851) were associated with multiple anomalies, and 14.8% (126/851) were associated with a syndrome or chromosomal anomaly. A significantly increasing trend over the 25-year period was observed for cleft lip with or without cleft palate associated with syndromes or chromosomal anomalies among mothers younger than 35 years but not in those older than 35 years. Conclusion : A slightly higher rate of orofacial clefts was observed in the east of Ireland than was observed in European and multinational studies during the study period, and there were higher rates of cleft palate. The rising trend in the proportion of mothers aged 35 years or older in Ireland is not contributing significantly to orofacial clefts associated with chromosomal syndromes.

  4. Rapid maxillary expansion in alveolar cleft repaired with a tissue-engineered bone in a canine model.

    PubMed

    Huang, Jialiang; Tian, Bo; Chu, Fengting; Yang, Chenjie; Zhao, Jun; Jiang, Xinquan; Qian, Yufen

    2015-08-01

    This study aims to investigate the effects of orthodontic expansion on graft area of a tissue-engineered bone (TEB) BMSCs/β-TCP, and to find an alternative strategy for the therapy of alveolar cleft. A unilateral alveolar cleft canine model was established and then treated with BMSCs/β-TCP under rapid maxillary expansion (RME). Sequential fluorescent labeling, radiography and helical computed tomography were used to evaluate new bone formation and mineralization in the graft area. Hematoxylin-eosin staining and Van Gieson׳s picro fuchsin staining were performed for histological and histomorphometric observation. ALP activity, mineralization and the expression of osteogenic differentiation related genes of BMSCs that grew on the β-TCP scaffold were promoted by their cultivation in osteogenic medium. Based on fact, TEB was constructed. After 8 weeks of treatment with BMSCs/β-TCP followed by RME, new bone formation and mineralization of the dogs were markedly accelerated, and bone resorption was significantly reduced, compared with the untreated dogs, or those only treated with autogenous iliac bone. The treatment with both TEB and RME evidently made the bone trabecula more abundant and the area of bone formation larger. What is more, there were no significant differences between BMSCs/β-TCP group and the group treated with autogenous bone and RME. This study further revealed that TEB was not only a feasible clinical approach for patients with alveolar cleft, but also a potential substituent of autogenous bone, and its combination with RME might be an alternative strategy for the therapy of alveolar cleft.

  5. Humanitarian cleft care in Southeast Asia: military-civilian partnerships and the role of the US Navy ship Mercy.

    PubMed

    Lim, Alan A; Salas, Carlos; Kumar, Anand R

    2012-11-01

    The primary mission of the US Navy (USN) is to maintain superior naval forces capable of winning wars, deterring aggression, and maintaining freedom of the seas. However, a major core capability of the present-day USN includes the ability to effectively and rapidly provide humanitarian assistance and disaster response whenever the need arises. Occurring annually since 2006, Pacific Partnership is an ongoing USN operation that aims to strengthen regional alliances and improve delivery of humanitarian assistance and disaster relief. A major focus of Pacific Partnership 2010 was the delivery of medical care to underserved communities in the region. A significant portion of the medical mission was specifically directed toward the treatment of patients with cleft lip and palate. As the main operational platform, the USN Ship Mercy provided an unparalleled environment in which to provide state-of-the-art multidisciplinary treatment to patients with cleft lip and palate. With the cooperation of host nations and locally active nongovernmental organizations, a sustainable model for providing treatment for cleft lip and palate can be developed.

  6. How various surgical protocols of the unilateral cleft lip and palate influence the facial growth and possible orthodontic problems? Which is the best timing of lip, palate and alveolus repair? literature review.

    PubMed

    Farronato, Giampietro; Kairyte, Laima; Giannini, Lucia; Galbiati, Guido; Maspero, Cinzia

    2014-01-01

    OBJECTIVES. Cleft lip palate is congenital growth disease with unknown etiology, probably linked to both genetically and external causes. The aim of this work consists in presenting the effects of these diseases on cranio facial growth and the surgical protocols described in literature. MATERIALS AND METHODS. The literature review articles conducted by Medline ranged from 1998 to 2011 have been selected. The key words of the research were "cleft lip palate", "cleft lip palate facial growth", "cleft lip palate surgery". The inclusion criteria were articles that analyzed surgical protocols and the growth of unilateral lip and palate clefts, the timing repair of lip, palate and alveolus. We excluded case reports, studies without control group in the sample and the other types of publication as thesis or conference presentation. 60 articles had the selection criteria of the research. RESULTS. The cleft lip and palate is one of the most common birth defects that needs long rehabilitation between birth and adulthood. Several authors have presented surgical protocols and timing. The effects of these diseases on cranio facial growth and the importance of the early intervention have been described. CONCLUSIONS. The review describes the main surgical protocols and treatment strategies of the unilateral lip and palate clefts. The review discusses how surgery effects the midfacial skeletal growth. Studies agree that the palate repair is the main cause of the maxilla growth disturbances. About the timing of palate repair in the unilateral clefts it can be concluded that most studies found no difference between one or two stages palate repair techniques for the midfacial growth. Also from the research, studies agree that delayed hard palate repair has more positive effects on maxillary growth than that of early hard palate repair. Nevertheless good results, delayed hard palate repair technique is abandoned by many hospital centres because of worse speech outcome. The best

  7. [Aspiration syndrome due to laryngeal cleft in an infant].

    PubMed

    Cuestas, Giselle; Demarchi, Victoria; Zanetta, Adrián; Urquizo, Mauricio; Lobos, Pablo; Razetti, Juan

    2014-02-01

    Aspiration is the passage of food content and endogenous secretions into the airway. Anatomical, neuromuscular or functional anomalies are among the major causes. The laryngeal cleft is a rare congenital anomaly that should be considered in the differential diagnosis of aspiration syndrome in neonates and infants. The main symptoms are stridor, recurrent respiratory infections and cyanotic crisis, cough and choking during feeding. The diagnosis is confirmed by endoscopic examination. The therapeutic behaviour will depend on the extent of the cleft, among other factors. We describe the clinical manifestations, diagnostic methods and treatment of an infant with this disease, and we emphasize the need for recognition of swallowing disorders in children in order to establish an accurate diagnosis and appropriate treatment to prevent and avoid malnutrition as well as a severe and potentially irreversible lung compromise.

  8. Academic Achievement in Children With Oral Clefts Versus Unaffected Siblings

    PubMed Central

    Wehby, George L.; Barron, Sheila; Romitti, Paul A.; Ansley, Timothy N.; Speltz, Matthew L.

    2014-01-01

    Objective To compare academic achievement in children with oral-facial clefts (OFC) with their unaffected siblings. Methods 256 children with OFC were identified from the Iowa Registry for Congenital and Inherited Disorders, and 387 unaffected siblings were identified from birth certificates. These data were linked to Iowa Testing Programs achievement data. We compared academic achievement in children with OFC with their unaffected siblings using linear regression models, adjusted for potential confounders. In post hoc analyses, we explored modifiers of siblings’ academic performance. Results Achievement scores were similar between children with OFC and their siblings. Children with cleft palate only were significantly more likely to use special education than their unaffected siblings. Siblings’ academic achievement was inversely related to distance in birth order and age from the affected child. Conclusion Children with OFC and their siblings received similar achievement scores. Younger siblings, in particular, may share a vulnerability to poor academic outcomes. PMID:24993102

  9. [Aspiration syndrome due to laryngeal cleft in an infant].

    PubMed

    Cuestas, Giselle; Demarchi, Victoria; Zanetta, Adrián; Urquizo, Mauricio; Lobos, Pablo; Razetti, Juan

    2014-02-01

    Aspiration is the passage of food content and endogenous secretions into the airway. Anatomical, neuromuscular or functional anomalies are among the major causes. The laryngeal cleft is a rare congenital anomaly that should be considered in the differential diagnosis of aspiration syndrome in neonates and infants. The main symptoms are stridor, recurrent respiratory infections and cyanotic crisis, cough and choking during feeding. The diagnosis is confirmed by endoscopic examination. The therapeutic behaviour will depend on the extent of the cleft, among other factors. We describe the clinical manifestations, diagnostic methods and treatment of an infant with this disease, and we emphasize the need for recognition of swallowing disorders in children in order to establish an accurate diagnosis and appropriate treatment to prevent and avoid malnutrition as well as a severe and potentially irreversible lung compromise. PMID:24566793

  10. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis.

    PubMed

    Solanki, Shailesh; Babu, M Narendra; Gowrishankar; Ramesh, S

    2016-01-01

    A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis. PMID:27274132

  11. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis

    PubMed Central

    Solanki, Shailesh; Babu, M. Narendra; Gowrishankar; Ramesh, S.

    2016-01-01

    A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis. PMID:27274132

  12. Phonetic features by babies with unilateral cleft lip and palate.

    PubMed

    O'Gara, M M; Logemann, J A; Rademaker, A W

    1994-11-01

    Twenty-three babies with nonsyndromic unilateral cleft lip and palate were audiotaped at regular intervals from 5 to 35 months of age. Narrow phonetic transcription of their comfort-state vocalizations and word approximations was accomplished to describe phonetic development over time and according to the nonrandomized age of palatoplasty. The babies that had earlier palatal repair produced significantly higher percentages of oral stops after 12 months of age than babies with similar clefts that had later palatal repair. No significant differences are evident, however, according to age of palatoplasty, for mean frequency use of oral fricatives up to 3 years of age. For all 23 babies, regardless of the age of palatoplasty intervention, time is an even stronger variable than age of palatoplasty for development of palatal, alveolar and velar place features, oral stops, and oral fricatives.

  13. Follow-Up Association Studies of Chromosome Region 9q and Nonsyndromic Cleft Lip/Palate

    PubMed Central

    Letra, Ariadne; Menezes, Renato; Govil, Manika; Fonseca, Renata F.; McHenry, Toby; Granjeiro, José M.; Castilla, Eduardo E.; Orioli, Iêda M.; Marazita, Mary L.; Vieira, Alexandre R.

    2010-01-01

    Cleft lip/palate comprises a large fraction of all human birth defects, and is notable for its significant lifelong morbidity and complex etiology. Several studies have shown that genetic factors appear to play a significant role in the etiology of cleft lip/palate. Human chromosomal region 9q21 has been suggested in previous reports to contain putative cleft loci. Moreover, a specific region (9q22.3-34.1) was suggested to present a ∼45% probability of harboring a cleft susceptibility gene. Fine mapping of fifty SNPs across the 9q22.3-34.11 region was performed to test for association with cleft lip/palate in families from United States, Spain, Turkey, Guatemala, and China. We performed family-based analysis and found evidence of association of cleft lip/palate with STOM (rs306796) in Guatemalan families (P=0.004) and in all multiplex families pooled together (P=0.002). This same SNP also showed borderline association in the US families (P=0.04). Under a nominal value of 0.05, other SNPs also showed association with cleft lip/palate and cleft subgroups. SNPs in STOM and PTCH genes and nearby FOXE1 were further associated with cleft phenotypes in Guatemalan and Chinese families. Gene prioritization analysis revealed PTCH and STOM ranking among the top fourteen candidates for cleft lip/palate among 339 genes present in the region. Our results support the hypothesis that the 9q22.32-34.1 region harbors cleft susceptibility genes. Additional studies with other populations should focus on these loci to further investigate the participation of these genes in human clefting. PMID:20583170

  14. Obtaining a good lip roll in congenital, secondary and traumatic cleft lip repairs.

    PubMed

    Chandran, Geethan; Lalonde, Donald H

    2013-01-01

    The present article includes a video designed to show the reader/viewer how to obtain a better lip roll in primary and secondary cleft lips as well as in traumatic cleft lips. The key is to not damage the delicate glands and fat in the lip roll. The actual surgery demonstrated in the video is a cleft lip redo with an effaced lip roll.

  15. SISL (ScreeningsInstrument Schisis Leuven): assessment of cleft palate speech, resonance and myofunction.

    PubMed

    Breuls, M; Sell, D; Manders, E; Boulet, E; Vander Poorten, V

    2006-01-01

    This paper presents an assessment protocol for the evaluation and description of speech, resonance and myofunctional characteristics commonly associated with cleft palate and/or velopharyngeal dysfunction. The protocol is partly based on the GOS.SP.ASS'98 and adapted to Flemish. It focuses on the relevant aspects of cleft type speech necessary to facilitate assessment, adequate diagnosis and management planning in a multi-disciplinary setting of cleft team care.

  16. Epidemiology, Etiology, and Treatment of Isolated Cleft Palate.

    PubMed

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

    2016-01-01

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

  17. TIDE Observations of Cusp and Cleft Multiple Ion Populations

    NASA Technical Reports Server (NTRS)

    Coffey, Victoria N.; Chandler, Michael O.; Moore, Thomas E.

    2000-01-01

    The southern pole pass of Polar/TIDe at 5000 km allows a study of the distributions of the cusp and cleft. We discuss observations of TIDE (Thermal Ion Dynamics Experiment) as it passes the southern pole on March 29, 1999. A mixture of several cold outflowing ions (0.3-10 eV) are measured simultaneously with magnetospheric precipitation (greater than 100 eV). We will show a study of these multiple plasma distributions, their source, and their interaction.

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

    PubMed

    Díaz Casado, G H; Díaz Grávalos, G J

    2013-01-01

    Orofacial clefts are a common problem that can lead to significant healthcare use and costs, as well as suffering on the part of the affected individuals and families. There are several theories explaining their origin, but some of the findings are inconsistent. The most accepted theories involve a major genetic basis that could be modified by the presence of external agents. Understanding the underlying causes could help to prevent its occurrence, an area in which the family physician can play an important role.

  19. Epidemiology of oral clefts 2012: an international perspective.

    PubMed

    Mossey, P A; Modell, B

    2012-01-01

    Classical descriptive epidemiology in the field of cleft lip and palate aims to quantify the problem, and in the higher income countries it is possible to do this with varying degrees of accuracy. This is not however possible in every country in the world, and epidemiology should seek to identify these data gaps with a view to improvement in the situation. Epidemiology must also be investigative and look for trends, associations and inter-population differences, with the aim of supporting aetiological research and advancing the translational agenda. This chapter is set out in three parts and seeks to address all three of the above areas. Birth defects in general and orofacial clefting in particular remain a relatively common and significant problem for not only the individual patients born with these defects in terms of death or disability, but also for their families and for society in general in terms of burden of care and health inequality. In high-income countries, despite very significant advances in treatment, problems in access to care and evidence base for cleft care still exist whereas in the developing world the consequences are lack of access to care and lack of infrastructure to help with quantification of the problem and consequently the ability to address it. The major questions in contemporary cleft lip and palate research surround ways of improving the evidence base for the treatment interventions used to optimise quality of care, and the ultimate scientific and humanitarian objective is primary prevention of those diseases and disorders that are preventable. Descriptive epidemiology underpins research enquiry in both of these major areas.

  20. Alveolar bone graft with Platelet Rich Plasma in cleft alveolus

    PubMed Central

    Gupta, Chandan; Mehrotra, Divya; Mohammad, Shadab; Khanna, Vaibhav; Kumar Singh, Gulshan; Singh, Geeta; Chellappa, Arul A.L.; Passi, Deepak

    2013-01-01

    Introduction Cleft of the lip, palate and alveolus are the commonest congenital anomaly to affect the orofacial region. Currently, there is great interest in the alveolar bone grafting procedures that involve use of platelet-rich-plasma (PRP), to enhance bone formation and specifically to promote bone graft healing. Materials and methods 20 patients with residual alveolar cleft, in the age group of 9–29 years, having unilateral or bilateral cleft lip and palate were selected. They were randomly assigned in either group A (with PRP) or group B (without PRP). Results Primary healing was observed in 90% patients in group A. Secondary healing was seen in 30% patients in group B. There was no graft rejection in group A but was seen in one patient (10%) in group B. Pain and swelling persisted longer in group B then group A. Bone grafts with added PRP presented with increased bone density (1028.00 ± 11.30 HU) in comparison to grafts without PRP (859.50 ± 27.73 HU) at end of 6-month postoperative. However, the mean bone density (as determined by the Dentascan image analyzer software) was 1.04 times more in the PRP group than non PRP group at 3-month and 1.2 times more at 6 months. Conclusion We conclude that on preliminary investigations, PRP seems to enhance bone formation in alveolar clefts when admixed with autologous cancellous bone harvested from the iliac crest. PMID:25737872

  1. Presurgical nasoalveolar molding in unilateral cleft lip and palate

    PubMed Central

    Hegde, Rahul J.; Kharkar, Viraj R.; Kamath, Shamika

    2015-01-01

    Unilateral cleft lip and palate (UCLP) patients have an esthetic and functional compromise of the middle third of the face and nasal structures. To improve the esthetic result of lip repair, the concept of presurgical nasoalveolar molding (PNAM) was brought into conception. PNAM is an easy and passive method of bringing the alveolus and lips together by redirecting the forces of natural growth. This case report documents a 2-year follow-up of PNAM in UCLP. PMID:26681868

  2. Chemical meningitis: a rare presentation of Rathke's cleft cyst.

    PubMed

    Mrelashvili, Anna; Braksick, Sherri A; Murphy, Lauren L; Morparia, Neha P; Natt, Neena; Kumar, Neeraj

    2014-04-01

    Rathke's cleft cysts (RCC) are usually benign, sellar and/or suprasellar lesions originating from the remnants of Rathke's pouch. Rarely, RCC can present with chemical meningitis, sellar abscess, lymphocytic hypophysitis, or intracystic hemorrhage. We describe an unusual presentation of RCC in which the patient presented with a clinical picture of chemical meningitis consisting of meningeal irritation, inflammatory cerebrospinal fluid profile, and enhancing pituitary and hypothalamic lesions, in addition to involvement of the optic tracts and optic nerve.

  3. A case of atypical cleft hand - reported with ontogenetic review.

    PubMed

    Kundu, Sujit Kumar; Roy, Hironmoy; Datta, Abhijit

    2014-12-01

    An asymptomatic atypical U shaped cleft hand has been found in a 21-year-old lady attending OPD. On digital skiagram it was found that central digits were absent with remnants of bases of the metacarpals, which have fused with the carpal bones. Moreover, the scaphoid and trapezium had fused to form a single mass. There was no other anomaly in other limbs, so far searched for. An endeavor has been made to explain the anomaly with ontogenetic review. PMID:25653934

  4. Epidemiology, Etiology, and Treatment of Isolated Cleft Palate

    PubMed Central

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

    2016-01-01

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

  5. Maiden morsel - feeding in cleft lip and palate infants

    PubMed Central

    Devi, E. Sree; Sai Sankar, A. J.; Manoj Kumar, M. G.; Sujatha, B.

    2012-01-01

    Cleft lip and cleft palate are the most common craniofacial anomalies that have an incidence of 0.28 to 3.74 per 1000 live births globally. Due to the great advancements in the field of medical science, these anomalies can today be corrected. However, it cannot be ignored that the parents of these patients may face psychological stress due to the cleft defects in the baby. Also, these conditions may cause financial difficulties to the parents and cause anxiety to the mother about the proper feeding of their infant. Feeding problems can range from excessive air intake to failure to thrive. As the management of such cases is lengthy and includes a multi-disciplinary team approach, it is the role of the Pediatrician/Pedodontist to educate the mother about the proper feeding techniques. In this article, we have reviewed and highlighted the various traditional and advanced devices and techniques which help in the successful management of these individuals. PMID:24478964

  6. The Essential Anatomical Subunit Approximation Unilateral Cleft Lip Repair.

    PubMed

    Chong, David K; Swanson, Jordan W

    2016-07-01

    The anatomical subunit approximation cleft lip repair advantageously achieves a balanced lip contour, with the line of repair hidden along seams of aesthetic subunits. Dr. David Fisher's original description of the repair reflects the considerable thought that went into the evolution of his design. As his technique has gained acceptance in the intervening 10 years, the authors note several key principles embodied in it that represent a shift in the cleft lip repair paradigm. The authors believe understanding these principles is important to mastery of the anatomical subunit technique, and facilitate its teaching. First, design a plan that adheres to anatomical subunits and perform measurements precisely. Second, identify and adequately release each cleft tissue layer from the lip and nose to enable restoration of balance. Third, drive surgical approximation through inset of the lateral muscle into the superiorly backcut medial orbicularis muscle, followed by skin closure with inferior triangle interposition above the white roll. In this article, the authors present essential components of the technique, and identify several principles that enable its successful execution. PMID:27348690

  7. Non-cleft causes of velopharyngeal dysfunction: implications for treatment.

    PubMed

    Kummer, Ann W; Marshall, Jennifer L; Wilson, Margaret M

    2015-03-01

    Although a history of cleft palate is the most common cause of velopharyngeal dysfunction (VPD), there are other disorders that can also cause hypernasality and/or nasal emission. These include other structural anomalies of the velopharyngeal valve (velopharyngeal insufficiency), neurophysiological disorders that result in inadequate velopharyngeal movement (velopharyngeal incompetence), and even faulty articulation placement in the pharynx (velopharyngeal mislearning). Unfortunately, individuals with non-cleft causes of hypernasality and/or nasal emission do not typically present at a cleft palate/craniofacial center where there are professionals who specialize in the evaluation and treatment of these disorders. As a result, they are often misdiagnosed and do not receive appropriate treatment. In this review, we present various conditions that can cause hypernasality and/or nasal emission during speech. We discuss appropriate treatment based on the underlying cause of the condition. It is important that pediatric otolaryngologists are able to recognize these disorders so that affected patients are referred to specialists in velopharyngeal dysfunction for treatment. PMID:25604261

  8. Association of AXIN2 with Non-syndromic Oral Clefts in Multiple Populations

    PubMed Central

    Letra, A.; Bjork, B.; Cooper, M.E.; Szabo-Rogers, H.; Deleyiannis, F.W.B.; Field, L.L.; Czeizel, A.E.; Ma, L.; Garlet, G.P.; Poletta, F.A.; Mereb, J.C.; Lopez-Camelo, J.S.; Castilla, E.E.; Orioli, I.M.; Wendell, S.; Blanton, S.H.; Liu, K.; Hecht, J.T.; Marazita, M.L.; Vieira, A.R.; Silva, R.M.

    2012-01-01

    We have previously shown the association of AXIN2 with oral clefts in a US population. Here, we expanded our study to explore the association of 11 AXIN2 markers in 682 cleft families from multiple populations. Alleles for each AXIN2 marker were tested for transmission distortion with clefts by means of the Family-based Association Test. We observed an association with SNP rs7224837 and all clefts in the combined populations (p = 0.001), and with SNP rs3923086 and cleft lip and palate in Asian populations (p = 0.004). We confirmed our association findings in an additional 528 cleft families from the United States (p < 0.009). We tested for gene-gene interaction between AXIN2 and additional cleft susceptibility loci. We assessed and detected Axin2 mRNA and protein expression during murine palatogenesis. In addition, we also observed co-localization of Axin2 with Irf6 proteins, particularly in the epithelium. Our results continue to support a role for AXIN2 in the etiology of human clefting. Additional studies should be performed to improve our understanding of the biological mechanisms linking AXIN2 to oral clefts. PMID:22370446

  9. Clinical Aspects associated with Syndromic forms of Orofacial Clefts in a Colombian population

    PubMed Central

    Briceño Balcazar, Ignacio; Martinez Lozano, Julio; Collins, Andrew; Uricoechea Patiño, Daniel Alfredo

    2015-01-01

    Objectives: To present descriptive epidemiology of Orofacial Clefts and to determine the association of syndromic forms with antenatal high-risk conditions, preterm birth, and comorbidities among nested-series of cases. Methods: A study of nested-series of cases was conducted. Frequencies of cleft type, associated congenital anomalies, syndromic, non-syndromic and multiple malformation forms, and distribution of Orofacial Clefts according to sex and affected-side were determined. Odds ratios were calculated as measures of association between syndromic forms and antenatal high-risk conditions, preterm birth and comorbidities. A total of three hundred and eleven patients with Orofacial Clefts were assessed in a 12-month period. Results: The most frequent type of Orofacial Clefts was cleft lip and palate, this type of cleft was more frequent in males, whereas cleft palate occurred more often in females. The most common cases occurred as non-syndromic forms. Aarskog-Scott syndrome showed the highest frequency amongst syndromic forms. Hypertensive disorders in pregnancy, developmental dysplasia of the hip, central nervous diseases and respiratory failure showed significant statistical associations (p <0.05) with syndromic forms. Conclusions: These data provide an epidemiological reference of Orofacial Clefts in Colombia. Novel associations between syndromic forms and clinical variables are determined. In order to investigate causality relationships between these variables further studies must be carried out. PMID:26848196

  10. The impact of cleft lip and palate repair on maxillofacial growth

    PubMed Central

    Shi, Bing; Losee, Joseph E

    2015-01-01

    Surgical correction is central to current team-approached cleft treatment. Cleft surgeons are always concerned about the impact of their surgical maneuver on the growth of the maxilla. Hypoplastic maxilla, concaved mid-face and deformed dental arch have constantly been reported after cleft treatments. It is very hard to completely circumvent these postoperative complications by current surgical protocols. In this paper, we discussed the factors that inhibit the maxillofacial growth on cleft patients. These factors included pre-surgical intervention, the timing of cleft palate and alveolae repair, surgical design and treatment protocol. Also, we made a review about the influence on the maxillary growth in un-operated cleft patients. On the basis of previous researches, we can conclude that most of scholars express identity of views in these aspects: early palatoplasty lead to maxilla growth inhibition in all dimensions; secondary alveolar bone graft had no influence on maxilla sagittal growth; cleft lip repair inhibited maxilla sagittal length in patients with cleft lip and palate; Veau's pushback palatoplasty and Langenbeck's palatoplasty with relaxing incisions were most detrimental to growth; Furlow palatoplasty showed little detrimental effect on maxilla growth; timing of hard palate closure, instead of the sequence of hard or soft palate repair, determined the postoperative growth. Still, scholars hold controversial viewpoints in some issues, for example, un-operated clefts have normal growth potential or not, pre-surgical intervention and pharyngoplasty inhibited maxillofacial growth or not. PMID:25394591

  11. Centrosomes as signalling centres

    PubMed Central

    Arquint, Christian; Gabryjonczyk, Anna-Maria; Nigg, Erich A.

    2014-01-01

    Centrosomes—as well as the related spindle pole bodies (SPBs) of yeast—have been extensively studied from the perspective of their microtubule-organizing roles. Moreover, the biogenesis and duplication of these organelles have been the subject of much attention, and the importance of centrosomes and the centriole–ciliary apparatus for human disease is well recognized. Much less developed is our understanding of another facet of centrosomes and SPBs, namely their possible role as signalling centres. Yet, many signalling components, including kinases and phosphatases, have been associated with centrosomes and spindle poles, giving rise to the hypothesis that these organelles might serve as hubs for the integration and coordination of signalling pathways. In this review, we discuss a number of selected studies that bear on this notion. We cover different processes (cell cycle control, development, DNA damage response) and organisms (yeast, invertebrates and vertebrates), but have made no attempt to be comprehensive. This field is still young and although the concept of centrosomes and SPBs as signalling centres is attractive, it remains primarily a concept—in need of further scrutiny. We hope that this review will stimulate thought and experimentation. PMID:25047618

  12. Student-Centred Learning: A Humanist Perspective

    ERIC Educational Resources Information Center

    Tangney, Sue

    2014-01-01

    The notion of student-centred learning is often not defined; within the pedagogic literature it is generally associated with constructivism or principles associated with a constructivist environment such as building on prior knowledge, purposeful active learning and sense-making. An informal enquiry into conceptions of university staff prior to…

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

    SciTech Connect

    Stein, J.D.; Nelson, L.D.; Conner, B.J.

    1994-09-01

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

  14. Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.

    PubMed

    Brito, Luciano Abreu; Yamamoto, Guilherme Lopes; Melo, Soraia; Malcher, Carolina; Ferreira, Simone Gomes; Figueiredo, Joana; Alvizi, Lucas; Kobayashi, Gerson Shigeru; Naslavsky, Michel Satya; Alonso, Nivaldo; Felix, Temis Maria; Zatz, Mayana; Seruca, Raquel; Passos-Bueno, Maria Rita

    2015-11-01

    Nonsyndromic orofacial cleft (NSOFC) is a complex disease of still unclear genetic etiology. To investigate the contribution of rare epithelial cadherin (CDH1) gene variants to NSOFC, we target sequenced 221 probands. Candidate variants were evaluated via in vitro, in silico, or segregation analyses. Three probably pathogenic variants (c.760G>A [p.Asp254Asn], c.1023T>G [p.Tyr341*], and c.2351G>A [p.Arg784His]) segregated according to autosomal dominant inheritance in four nonsyndromic cleft lip with or without cleft palate (NSCL/P) families (Lod score: 5.8 at θ = 0; 47% penetrance). A fourth possibly pathogenic variant (c.387+5G>A) was also found, but further functional analyses are needed (overall prevalence of CDH1 candidate variants: 2%; 15.4% among familial cases). CDH1 mutational burden was higher among probands from familial cases when compared to that of controls (P = 0.002). We concluded that CDH1 contributes to NSCL/P with mainly rare, moderately penetrant variants, and CDH1 haploinsufficiency is the likely etiological mechanism.

  15. Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate.

    PubMed

    Scapoli, Luca; Martinelli, Marcella; Pezzetti, Furio; Palmieri, Annalisa; Girardi, Ambra; Savoia, Anna; Bianco, Anna Monica; Carinci, Francesco

    2010-07-01

    Nonsyndromic cleft lip with or without cleft palate (CL/P) affects approximately 1 in 1,000 births. Genetic studies have provided evidence for the role of several genes and candidate loci in clefting; however, conflicting results have frequently been obtained and much have to be done to unravel the complex genetics of CL/P. In the present investigation we have focused on the candidate region in 6p23, a region that have been found linked to CL/P in several investigations, in the attempt to find out the susceptibility gene provisionally named OFC1. Gene expression experiments in mice embryo of positional candidate genes revealed that JARID2 was highly and specifically expressed in epithelial cells in merging palatal shelves. A family-based linkage disequilibrium study confirmed the pivotal role of JARID2 in orofacial development and strongly supports a role for this gene in CL/P etiology (multiallelic haplotype test P=6 x 10(-5)). Understanding the molecular role of JARID2 within facial development may offer additional information to further unravel the complex genetics of CL/P.

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

    PubMed Central

    Kling, Rochelle R.; Taub, Peter J.; Ye, Xiaoqian

    2014-01-01

    Background: China is the most populated country and has one of the highest prevalences of oral clefting. The present study reports the epidemiology and surgical procedures performed on the largest reported cohort of individuals with clefting in China. Methods: A retrospective review of patients who received cleft repair through Smile Train in China from 2000 to 2011 was conducted. Data on demographics, cleft characteristics, associated malformations, pregnancy and family history, and surgical technique were analyzed using SPSS (IBM, Chicago, Ill.). Results: A total of 205,679 patients underwent 209,169 cleft procedures. Cleft lip and palate (42.7%) was most common followed by isolated cleft palate (32.4%) and isolated cleft lip (24.9%). Males accounted for 63.5% of cases. The average age at initial surgery was 6.12 years. By 2011, this decreased to 1.8 years of age for lip repair and to 5.9 years of age for palate repair. The preferred techniques were rotation-advancement (55%) for unilateral lip repair and Von-Langenbeck (38%) and pushback (39%) for palate repair. The percentages of cases with associated anomalies and surgical complications were 12.8% and 0.36%, respectively. 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. PMID:25426353

  17. Articulation patterns and speech intelligibility of 54 Vietnamese children with unoperated oral clefts: clinical observations and impressions.

    PubMed

    Landis, P; Thi-Thu-Cuc, P

    1975-04-01

    Evaluations of the articulation patterns and speech intelligibility of 54 Vietnamese children with unrepaired oral clefts indicate a relationship between the type of oral cleft and the proficiency of speech skills attained. The results of the study suggest that consideration of the type of oral cleft and the specific kinds of articulation errors exhibited by the patient may be of value in planning the surgical habilitation of older children and adults with unrepaired clefts of the lip and palate.

  18. Girls' Groups and Boys' Groups at a Municipal Technology Centre

    ERIC Educational Resources Information Center

    Salminen-Karlsson, Minna

    2007-01-01

    This article describes the Swedish initiative of municipal technology centres from a gender point of view. These centres provide after-school technology education for children aged 6-16. By means of an ethnographic study, the effects of the use of single-sex groups in increasing the interest of girls and boys in technical activities have been…

  19. National Centre for Research on Rural Education. Report for 1983.

    ERIC Educational Resources Information Center

    National Centre for Research on Rural Education, Nedlands (Western Australia).

    The Centre was originally funded in 1980 for three years to undertake research on major issues and problems in rural education, to publish and disseminate results, and to act as a source of advice to government and private authorities as well as communities. Funding for the Centre has been extended through 1985, and its activities continue to be…

  20. Should "Teacher Centred Teaching" Replace "Student Centred Learning"?

    ERIC Educational Resources Information Center

    Bailey, Patrick D.

    2008-01-01

    Mission statements of most HEIs across the UK support "student centred learning". In this paper, it is suggested that "teacher centred teaching" should also have a major role to play, improving the quality of the learning experience in higher education. Students are extremely diverse in their skills, weaknesses, and learning styles, but lecturers…

  1. Innervated ectopic salivary gland associated with Rathke's cleft cyst clinically mimicking pituitary adenoma.

    PubMed

    Stefanits, Harald; Matula, Christian; Frischer, Josa M; Furtner, Julia; Hainfellner, Johannes A; Woehrer, Adelheid

    2013-01-01

    Herein, we report an exceptional case of a young female patient with progressive enlargement of a sellar mass, clinically suggestive of pituitary adenoma. Histopathology, however, demonstrated Rathke's cleft cyst associated with salivary gland remnants. In contrast to the majority of prior reports, the ectopic salivary glands were found in close proximity to the anterior pituitary lobe and showed active production of mucous secret, which caused progressive growth and symptoms in this patient. We further demonstrate nerve fibers surrounding the ectopic salivary glands, thereby suggesting parasympathetic innervation as a plausible mechanism triggering seromucous secretion. Neurosurgeons and neuropathologists need to be aware of this rare clinical condition expanding the spectrum of differential diagnoses of sellar masses. PMID:23254138

  2. Verbal Competence in Narrative Retelling in 5-Year-Olds with Unilateral Cleft Lip and Palate

    ERIC Educational Resources Information Center

    Klintö, Kristina; Salameh, Eva-Kristina; Lohmander, Anette

    2015-01-01

    Background: Research regarding expressive language performance in children born with cleft palate is sparse. The relationship between articulation/phonology and expressive language skills also needs to be further explored. Aims: To investigate verbal competence in narrative retelling in 5-year-old children born with unilateral cleft lip and palate…

  3. Vocal Development of 9-Month-Old Babies with Cleft Palate.

    ERIC Educational Resources Information Center

    Chapman, Kathy L.; Hardin-Jones, Mary; Schulte, Julie; Halter, Kelli Ann

    2001-01-01

    This study compared the prelinguistic vocal development of 30 9- month-old babies with unrepaired cleft palate and age-matched peers (N=15). Fewer of the babies with cleft palate had reached the canonical babbling stage (57 percent versus 93 percent) and had smaller consonant inventories. However, syllable types and length and number of…

  4. Abnormal Patterns of Tongue-Palate Contact in the Speech of Individuals with Cleft Palate

    ERIC Educational Resources Information Center

    Gibbon, Fiona E.

    2004-01-01

    Individuals with cleft palate, even those with adequate velopharyngeal function, are at high risk for disordered lingual articulation. This article attempts to summarize current knowledge of abnormal tongue-palate contact patterns derived from electropalatographic (EPG) data in speakers with cleft palate. These data, which have been reported in 23…

  5. Acquisition of Linguistic and Cognitive Skills by Children with Cleft Palate.

    ERIC Educational Resources Information Center

    Broen, Patricia A.; Devers, Monica C.; Doyle, Shirley S.; Prouty, Jo McCauley; Moller, Karlind T.

    1998-01-01

    This study compared cognitive and linguistic development of young children with (N=28) and without (N=29) cleft palate. Children with cleft palate, although well within the normal range, performed significantly below the control group on cognitive and linguistic tests. Cognitive differences were linguistic in nature and were related to hearing…

  6. Effects of Listening Instructions and Severity of Cleft Palate Speech on Listeners. Final Report.

    ERIC Educational Resources Information Center

    Shames, George H.; And Others

    Mothers of cleft and noncleft palate children (C- and non C-mothers) listened to a reading by a cleft palate child of a passage containing specified combinations of nasality and intelligibility. Groups were either uninstructed or instructed to listed to the content or the manner of speech; they assessed the nasality and intelligibility of the…

  7. The Interrelationships between Ratings of Speech and Facial Acceptability in Persons with Cleft Palate.

    ERIC Educational Resources Information Center

    Sinko, Garnet R.; Hedrick, Dona L.

    1982-01-01

    Thirty untrained young adult observers rated the speech and facial acceptablity of 20 speakers with cleft palate. The observers were reliable in rating both speech and facial acceptability. Judgments of facial acceptability were generally more positive, suggesting that speech is generally judged more negatively in speakers with cleft palate.…

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

    ERIC Educational Resources Information Center

    Kalland, Mirjam

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

  9. A Respirometric Technique to Evaluate Velopharyngeal Function in Speakers with Cleft Palate, with and without Prostheses.

    ERIC Educational Resources Information Center

    Gilbert, Harvey R.; Ferrand, Carole T.

    1987-01-01

    Respirometric quotients (RQ), the ratio of oral air volume expended to total volume expended, were obtained from the productions of oral and nasal airflow of 10 speakers with cleft palate, with and without their prosthetic appliances, and 10 normal speakers. Cleft palate speakers without their appliances exhibited the lowest RQ values. (Author/DB)

  10. Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African Cohort.

    PubMed

    Weatherley-White, R Christopher; Ben, Songtao; Jin, Ying; Riccardi, Sheri; Arnold, Thomas D; Spritz, Richard A

    2011-10-01

    Nonsyndromic cleft lip with or without cleft palate is a common birth defect with a wide range of prevalence among different populations, apparently highest in Asians and Amerindians and lowest in Africans. Recent genomewide association studies of European-derived and Asian populations have identified six confirmed loci for this phenotype: 1p22.1, 1q32.2 (IRF6), 8q24, 10q25.3, 17q22, and 20q12. However, there have thus far been no studies of these loci in African patients with nonsyndromic cleft lip with or without cleft palate. We carried out association analysis of SNPs in these six candidate chromosomal regions in 128 nonsyndromic cleft lip with or without cleft palate cases and 105 controls from the Rift Valley of Kenya. We observed no apparent association of this phenotype with any of these SNPs, though there was strong statistical power only for 8q24. These results indicate that at least the 8q24 locus does not play a major role in the pathogenesis of nonsyndromic cleft lip with or without cleft palate in east Africa, supporting locus heterogeneity for susceptibility to this phenotype among different major populations of the world.

  11. Processing of Japanese Cleft Constructions in Context: Evidence from Event-Related Brain Potentials

    ERIC Educational Resources Information Center

    Yano, Masataka; Tateyama, Yuki; Sakamoto, Tsutomu

    2015-01-01

    Numerous studies have found "subject gap preference" in relative clauses and cleft constructions in English, French, and other languages. In contrast, previous studies have reported "object gap preference" in cleft constructions in Japanese. However, the effect of integrating a filler and its gap may be influenced by the effect…

  12. EVIDENCE FOR EGFR PATHWAY MEDIATION OF CLEFT PALATE INDUCTION BY TCDD

    EPA Science Inventory

    EVIDENCE FOR EGFR PATHWAY MEDIATION OF CLEFT PALATE INDUCTION BY TCDD. B D Abbott, A R Buckalew, and K E Leffler. RTD, NHEERL, ORD,US EPA, RTP, NC, USA.

    2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) is teratogenic in C57BL/6J mice, producing cleft palate (CP) after exposure...

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

    PubMed Central

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

    2015-01-01

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

  14. Nasopharyngeal Development in Patients with Cleft Lip and Palate: A Retrospective Case-Control Study

    PubMed Central

    Wermker, Kai; Jung, Susanne; Joos, Ulrich; Kleinheinz, Johannes

    2012-01-01

    Introduction. The aim of this paper was to evaluate cephalometrically the nasopharyngeal development of patients with complete unilateral cleft lip and palate. Influencing factors were evaluated and cleft to noncleft subjects were compared to each other. Material and Methods. The lateral cephalograms of 66 patients with complete cleft lip and palate were measured and compared retrospectively to the cephalograms of 123 healthy probands. Measurements were derived from a standardized analysis of 56 landmarks. Results. We observed significant differences between cleft and control group: the cleft patients showed amaxillary retroposition and a reduced maxillary length; the inclination of the maxilla was significantly more posterior and cranial; the anterior nasopharyngeal height was reduced; the nasopharyngeal growth followed a vertical tendency with reduced sagittal dimensions concerning hard and soft tissue. The velum length was reduced. In the cleft group, an accumulation of mandibular retrognathia and an anterior position of the hyoid were observed. Skeletal configuration and type of growth were predominantly vertical. Conclusions. Our data provides a fundamental radiological analysis of the nasopharyngeal development in cleft patients. It confirms the lateral cephalogram as a basic diagnostic device in the analysis of nasopharyngeal and skeletal growth in cleft patients. PMID:22523495

  15. The Young Child with Cleft Lip and Palate: Intervention Needs in the First Three Years.

    ERIC Educational Resources Information Center

    Edmonson, Rebecca; Reinhartsen, Debra

    1998-01-01

    Discusses the multiple medical, dental, therapeutic, psychosocial, and early intervention needs faced by children with cleft lip and cleft plate during the first three years of life. The physiological development of children with these disabilities is described and the need for interdisciplinary team involvement is emphasized. (Author/CR)

  16. Syntactic Structure and Information Structure: The Acquisition of Portuguese Clefts and "Be"-Fragments

    ERIC Educational Resources Information Center

    Lobo, Maria; Santos, Ana Lúcia; Soares-Jesel, Carla

    2016-01-01

    This article investigates the acquisition of different types of clefts and of "be"-fragments in European Portuguese. We first present the main syntactic and discourse properties of different cleft structures and of "be"-fragments in European Portuguese, and we discuss how data from first language acquisition may contribute to…

  17. Perception of Place of Articulation by Children with Cleft Palate and Posterior Placement.

    ERIC Educational Resources Information Center

    Whitehill, Tara L.; Francis, Alexander L.; Ching, Christine K-Y.

    2003-01-01

    A study examined if 10 children (ages 4-12) with repaired cleft palate who demonstrate posterior placement of alveolar targets differed from 10 children with cleft palate without such error patterns, and from 10 controls in the perception of alveolar targets. Children with posterior placement appeared unable to distinguish alveolar targets.…

  18. Nasalance Scores of Children with Repaired Cleft Palate Who Exhibit Normal Velopharyngeal Closure during Aerodynamic Testing

    ERIC Educational Resources Information Center

    Zajac, David J.

    2013-01-01

    Purpose: To determine if children with repaired cleft palate and normal velopharyngeal (VP) closure as determined by aerodynamic testing exhibit greater acoustic nasalance than control children without cleft palate. Method: Pressure-flow procedures were used to identify 2 groups of children based on VP closure during the production of /p/ in the…

  19. The Impact of Early Intervention on Speech and Lexical Development for Toddlers with Cleft Palate: A Retrospective Look at Outcome

    ERIC Educational Resources Information Center

    Hardin-Jones, Mary; Chapman, Kathy L.

    2008-01-01

    Purpose: The purpose of the present investigation was to examine the impact of early intervention on speech and lexical measures for toddlers with cleft palate. Method: Speech measures of ten 27-month-old toddlers with cleft palate who had been referred for therapy at 17 months of age were compared to those of 10 toddlers with cleft palate who had…

  20. Rare Functional Variants in Genome–wide Association Identified Candidate Genes for Non-syndromic Clefts in the African Population

    PubMed Central

    Butali, Azeez; Mossey, Peter; Adeyemo, Wasiu L.; Eshete, Mekonen; Gaines, Lauren A. L.; Braimah, Ramat O.; Aregbesola, Babatunde S.; Rigdon, Jennifer; Emeka, Christian; Olutayo, James; Ogunlewe, Olugbenga; Ladeinde, Akinola; Abate, Fikre; Hailu, Taye; Mohammed, Ibrahim; Gravem, Paul; Deribew, Milliard; Gesses, Mulualem; Adeyemo, Adebowale; Marazita, Mary; Murray, Jeffrey

    2014-01-01

    Nonsyndromic clefts of the lip and palate [NSCLP] are complex genetic traits. Together, they are classified as one of the most common birth defects with a prevalence of 1/700 live births. Genome-wide association studies [GWAS] for non-syndromic cleft lip with or without cleft palate [NSCL[P

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

    SciTech Connect

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

    1993-06-01

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

  2. Parents' emotional and social experiences of caring for a child through cleft treatment.

    PubMed

    Nelson, Pauline A; Kirk, Susan A; Caress, Ann-Louise; Glenny, Anne-Marie

    2012-03-01

    Little is known about the experiences of parents caring for a child through long-term treatment for cleft lip and/or cleft palate. We conducted in-depth interviews with 35 parents with children between the ages of 20 weeks and 21 years to explore experiences across the treatment program. We analyzed the data using a constructivist grounded theory approach and present in detail in this article one subcategory from the analysis: managing emotions. Throughout childhood and adolescence, parents experienced conflicting emotions about their child's impairment, uncertainty about cleft treatment, and stigmatizing attitudes. Although parents attempted to manage emotional tensions by pursuing cleft treatments, the interventions could themselves be a source of conflict for them. We suggest that routine assessment of parents' emotional and social well-being should be included in cleft treatment programs, and access to psychosocial support made available.

  3. Passage of a Small Sphere through a Cleft of Endothelia with Flexible Glycocalyx

    NASA Astrophysics Data System (ADS)

    Asayama, Keiko; Makino, Masato; Itoh, Satoshi; Sano, Osamu

    2012-12-01

    The passage of a small sphere through a cleft of the endothelia covered with glycocalyx bush is analyzed on the basis of the Stokes equation. Endothelia are described by a packed hexagonal planar arrangement of beads of equal radius, from which one of the bead is removed to form the cleft. The chains representing units of the glycocalyx bush are also approximated by columns of smaller beads, one of their ends being attached to the endothelia. The sphere is assumed to be driven by a constant force along the axis of the cleft, whose velocity and the deformation of the glyco-chains are determined taking into account the hydrodynamic interaction between the instantaneous configuration of the constituent beads. The velocity reduction of the sphere as the sphere passes through the cleft is larger, and the region in which the reduction is remarkable is more locally concentrated in the vicinity of the cleft for larger flexibility of the glyco-chains.

  4. Study of relationship between clinical factors and velopharyngeal closure in cleft palate patients

    PubMed Central

    Chen, Qi; Zheng, Qian; Shi, Bing; Yin, Heng; Meng, Tian; Zheng, Guang-ning

    2011-01-01

    BACKGROUND: This study was carried out to analyze the relationship between clinical factors and velopharyngeal closure (VPC) in cleft palate patients. METHODS: Chi-square test was used to compare the postoperative velopharyngeal closure rate. Logistic regression model was used to analyze independent variables associated with velopharyngeal closure. RESULTS: Difference of postoperative VPC rate in different cleft types, operative ages and surgical techniques was significant (P=0.000). Results of logistic regression analysis suggested that when operative age was beyond deciduous dentition stage, or cleft palate type was complete, or just had undergone a simple palatoplasty without levator veli palatini retropositioning, patients would suffer a higher velopharyngeal insufficiency rate after primary palatal repair. CONCLUSIONS: Cleft type, operative age and surgical technique were the contributing factors influencing VPC rate after primary palatal repair of cleft palate patients. PMID:22279464

  5. Aesthetic tooth modification for patients with cleft lip and palate.

    PubMed

    Burke, F J; Shaw, W C

    1992-11-01

    Alongside orthodontic treatment, tooth shape modification may be indicated for teeth associated with clefts of the lip and alveolus, and in non-carious teeth, minimal tooth preparation techniques appear to be most appropriate. Two methods of tooth shape modification are described. In one, hybrid composite materials, bonded to tooth enamel using the acid-etch technique, may be considered to provide a permanent, low cost, aesthetically satisfactory result, often without tooth preparation and with minimal operating time. Alternatively, indirect veneers may be appropriate for treatment of more severely malformed teeth.

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

    SciTech Connect

    Shaw, G.M.; Wasserman, C.R.; O`Malley, C.D.

    1996-03-01

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

  7. Speech and language therapy interventions for children with cleft palate: a systematic review.

    PubMed

    Bessell, Alyson; Sell, Debbie; Whiting, Penny; Roulstone, Sue; Albery, Liz; Persson, Martin; Verhoeven, Andrea; Burke, Margaret; Ness, Andy R

    2013-01-01

    Objective :  (1) To examine the evidence for the effectiveness of differences in timing and type of speech and language therapy for children with cleft palate with or without a cleft lip and (2) to identify types of interventions assessed. Design :  Nine databases, including MEDLINE and EMBASE, were searched between inception and March 2011 to identify published articles relating to speech and language therapy for children with cleft palate with or without cleft lip. Studies that included at least 10 participants and reported outcome measures for speech and/or language measures were included. Studies where the experimental group had less than 90% of children with cleft palate with or without cleft lip were excluded. Two reviewers independently completed inclusion assessment, data extraction, and risk of bias assessment for all studies identified. Results :  A total of 17 papers were evaluated: six randomized control trials and 11 observational studies. Studies varied widely on risk of bias, intervention used, and outcome measures reported. None of the studies had a low risk of bias. In terms of intervention approaches, seven studies evaluated linguistic approaches and 10 evaluated motor approaches. Outcomes measures did not support either approach over the other, and based on data reported it was difficult to ascertain which approach is more effective for children with cleft palate with or without cleft lip. Conclusions :  The review found little evidence to support any specific intervention. Key uncertainties need to be identified and adequately powered, methodologically rigorous studies conducted to provide a secure evidence base for speech-language therapy practice in children with cleft palate with or without cleft lip.

  8. Modulation of lipid metabolic defects rescues cleft palate in Tgfbr2 mutant mice.

    PubMed

    Iwata, Junichi; Suzuki, Akiko; Pelikan, Richard C; Ho, Thach-Vu; Sanchez-Lara, Pedro A; Chai, Yang

    2014-01-01

    Mutations in transforming growth factor beta (TGFβ) receptor type II (TGFBR2) cause Loeys-Dietz syndrome, characterized by craniofacial and cardiovascular abnormalities. Mice with a deletion of Tgfbr2 in cranial neural crest cells (Tgfbr2(fl/fl);Wnt1-Cre mice) develop cleft palate as the result of abnormal TGFβ signaling activation. However, little is known about metabolic processes downstream of TGFβ signaling during palatogenesis. Here, we show that Tgfbr2 mutant palatal mesenchymal cells spontaneously accumulate lipid droplets, resulting from reduced lipolysis activity. Tgfbr2 mutant palatal mesenchymal cells failed to respond to the cell proliferation stimulator sonic hedgehog, derived from the palatal epithelium. Treatment with p38 mitogen-activated protein kinase (MAPK) inhibitor or telmisartan, a modulator of p38 MAPK activation and lipid metabolism, blocked abnormal TGFβ-mediated p38 MAPK activation, restoring lipid metabolism and cell proliferation activity both in vitro and in vivo. Our results highlight the influence of alternative TGFβ signaling on lipid metabolic activities, as well as how lipid metabolic defects can affect cell proliferation and adversely impact palatogenesis. This discovery has broader implications for the understanding of metabolic defects and potential prevention of congenital birth defects. PMID:23975680

  9. Cleft palate in a patient with Williams' syndrome.

    PubMed

    Blanco-Dávila, F; Olveda-Rodriguez, J A

    2001-03-01

    Cleft lip or palate has not been reported in the medical literature as a part of Williams' syndrome. We present a patient who had cleft palate among other congenital manifestations. This patient's immediate postnatal period clinically seemed to have a Pierre Robin sequence. With the development of the craniofacial complex, microgenia and micrognathia with glossoptosis gradually became apparent. On further assessment, the patient showed other clinical findings that suggested a syndromic association. This required a complete evaluation to discard other conditions that present with low psychomotor development and distinctive facies, such as Kabuki syndrome or fetal alcohol syndrome. The diagnosis for Williams' syndrome was established based on the clinical features and supported by the fluorescent in situ hybridization test. Williams' syndrome has been described as a rare, congenital disorder characterized by physical and developmental problems. Common features include characteristic "elfin-like" facies, supravalvular aortic stenosis, hypercalcemia, low birth weight, slow weight gain, feeding problems, impulsive and outgoing personality, limited spatial skills and motor control, and intellectual disability. Although individuals with Williams' syndrome may show competence in areas such as language, music, and interpersonal relations, their IQs are usually low and they are considered moderately to mildly retarded.

  10. Midline Cervical Cleft: Review of an Uncommon Entity

    PubMed Central

    Puscas, Liana

    2015-01-01

    Introduction. Midline cervical cleft is a rare congenital malformation which nonetheless has a classic presentation. This study presents one of the largest single series of new patients with MCC and provides an exhaustive review and catalogue of publications from the international literature. Materials and Methods. Retrospective chart review performed in two academic medical centers and literature review performed with primary verification of all quoted references. Results. Ten patients with MCC were identified (8 boys and 2 girls). All patients presented with the classic findings of this congenital anomaly, and the length of the skin defect correlated with an increase in the patient's age. Surgical excision was complete in all cases. Thorough international literature review yielded only 195 verifiable previously reported cases. Conclusions. This is one of the largest series of new patients with midline cervical cleft presented in the world literature. Although rare (with less than 200 cases published to date) this entity does have a reliable presentation that should lead to rapid and accurate diagnosis. Complete surgical excision at an early age is appropriate since the anomaly increases in length commensurate with the patient's age. PMID:25983756

  11. Birth prevalence of cleft lip and palate in British Columbia between 1952 and 1986: stability of rates.

    PubMed Central

    Lowry, R B; Thunem, N Y; Uh, S H

    1989-01-01

    We examined the birth prevalence of cleft lip with or without cleft palate and of isolated cleft palate in British Columbia between 1952 and 1986 using the data of the BC Health Surveillance Registry. The rates fluctuated over the study period, but linear trend analysis showed no increase or decrease for cleft lip with or without cleft palate; however, there was a significant increase for isolated cleft palate, attributed to improved ascertainment around 1963-66. Given the possible effects of newer agents used in both silviculture and agriculture, as well as the general concern over drugs and other environmental agents, such a long-term monitoring program is important. Furthermore, if significant clustering occurs, good background data are essential for comparison. The general public's perception is that the rates of birth defects are increasing. Our findings should give some reassurance with respect to orofacial clefts. PMID:2713802

  12. HDR and PDR 192Ir source activity control procedures, as the part of the quality assurance system at Brachytherapy Department of Greater Poland Cancer Centre

    PubMed Central

    Błasiak, Barbara; Stefaniak, Patrycja; Bielęda, Grzegorz

    2009-01-01

    Purpose One of the main causes of treatment failures in brachytherapy is incorrect source strength specification in planning system or treatment delivery console. Source strength control is the only scheme to avoid such mistakes. The main aim of this work was to present results of three years of HDR and PDR sources activity control. Material and methods Study was based on data from 14 192Ir HDR and PDR sources exchanges. Sources were checked three times: at the exchange day and after one and two months. Measurements were performed twice with thimble chamber (PMMA phantom), and well chamber. The source strength were measured as air – kerma and recalculated to activity. Results Source activities measured using well chamber and thimble chamber, as well as activities provided by planning system, were presented for PDR and HDR, respectively. Differences between results obtained using each chamber and activities from planning system were presented graphically. The calculated and measured activities differed less than 5%. Wilcoxon test was performed as well, no statistically significant differences were observed among HDR or PDR activities. Conclusions Checking of source parameters is one of the most important parts of quality control system in brachytherapy facilities. Well chamber and thimble chamber based dosimetry systems are fast and reliable tools for 192Ir source parameters checking in working brachytherapy department conditions.

  13. Nasolabial symmetry and aesthetics in children with complete unilateral cleft lip and palate.

    PubMed

    Fudalej, Piotr; Katsaros, Christos; Hozyasz, Kamil; Borstlap, Wilfred A; Kuijpers-Jagtman, Anne Marie

    2012-10-01

    The objective of this study was to evaluate the association between nasolabial symmetry and aesthetics in children with complete unilateral cleft lip and palate (CUCLP). Frontal and basal photographs of 60 consecutively treated children with CUCLP (cleft group: 41 boys and 19 girls, mean (SD) age 11 (2) years) and 44 children without clefts (control group: 16 boys and 28 girls, mean (SD) age 11(2) years), were used for evaluation of nasolabial symmetry and aesthetics. Nasal and labial measurements were made to calculate the coefficient of asymmetry (CA). The 5-grade aesthetic index described by Asher-McDade et al. was used to evaluate nasolabial appearance. Correlation and regression analysis were used to identify an association between aesthetics and CA, sex, and the presence of CUCLP. Ten measurements in the cleft, and 2 in the control, group differed significantly between the cleft and non-cleft (or right and left) sides, respectively. The significantly higher values of 9 of 11 CA in the children with CUCLP indicated that they had more asymmetrical nasolabial areas than children without clefts. However, the regression analyses showed that only a few CA were associated with nasolabial aesthetics. In conclusion, nasolabial aesthetics and nasolabial symmetry seem to be only weakly associated in patients with CUCLP.

  14. Dual embryonic origin of maxillary lateral incisors: clinical implications in patients with cleft lip and palate

    PubMed Central

    Garib, Daniela Gamba; Rosar, Julia Petruccelli; Sathler, Renata; Ozawa, Terumi Okada

    2015-01-01

    Introduction: Cleft lip and palate are craniofacial anomalies highly prevalent in the overall population. In oral clefts involving the alveolar ridge, variations of number, shape, size and position are observed in maxillary lateral incisors. The objective of this manuscript is to elucidate the embryonic origin of maxillary lateral incisors in order to understand the etiology of these variations. Contextualization: The hypothesis that orofacial clefts would split maxillary lateral incisor buds has been previously reported. However, recent studies showed that maxillary lateral incisors have dual embryonic origin, being partially formed by both the medial nasal process and the maxillary process. In other words, the mesial half of the lateral incisor seems to come from the medial nasal process while the distal half of the lateral incisor originates from the maxillary process. In cleft patients, these processes do not fuse, which results in different numerical and positional patterns for lateral incisors relating to the alveolar cleft. In addition to these considerations, this study proposes a nomenclature for maxillary lateral incisors in patients with cleft lip and palate, based on embryology and lateral incisors position in relation to the alveolar cleft. Conclusion: Embryological knowledge on the dual origin of maxillary lateral incisors and the use of a proper nomenclature for their numerical and positional variations renders appropriate communication among professionals and treatment planning easier, in addition to standardizing research analysis. PMID:26560830

  15. Prevalence of oral habits in children with cleft lip and palate.

    PubMed

    Barsi, Paula Caroline; Ribeiro da Silva, Thaieny; Costa, Beatriz; da Silva Dalben, Gisele

    2013-01-01

    This study investigated the prevalence of oral habits in children with clefts aged three to six years, compared to a control group of children without clefts in the same age range, and compared the oral habits between children with clefts with and without palatal fistulae. The sample was composed of 110 children aged 3 to 6 years with complete unilateral cleft lip and palate and 110 children without alterations. The prevalence of oral habits and the correlation between habits and presence of fistulae (for children with clefts) were analyzed by questionnaires applied to the children caretakers. The cleft influenced the prevalence of oral habits, with lower prevalence of pacifier sucking for children with cleft lip and palate and higher prevalence for all other habits, with significant association (P < 0.05). There was no significant association between oral habits and presence of fistulae (P > 0.05). The lower prevalence of pacifier sucking and higher prevalence of other oral habits agreed with the postoperative counseling to remove the pacifier sucking habit when the child is submitted to palatoplasty, possibly representing a substitution of habits. There was no causal relationship between habits and presence of palatal fistulae.

  16. Prevalence of Oral Habits in Children with Cleft Lip and Palate

    PubMed Central

    Barsi, Paula Caroline; Ribeiro da Silva, Thaieny; Costa, Beatriz; da Silva Dalben, Gisele

    2013-01-01

    This study investigated the prevalence of oral habits in children with clefts aged three to six years, compared to a control group of children without clefts in the same age range, and compared the oral habits between children with clefts with and without palatal fistulae. The sample was composed of 110 children aged 3 to 6 years with complete unilateral cleft lip and palate and 110 children without alterations. The prevalence of oral habits and the correlation between habits and presence of fistulae (for children with clefts) were analyzed by questionnaires applied to the children caretakers. The cleft influenced the prevalence of oral habits, with lower prevalence of pacifier sucking for children with cleft lip and palate and higher prevalence for all other habits, with significant association (P < 0.05). There was no significant association between oral habits and presence of fistulae (P > 0.05). The lower prevalence of pacifier sucking and higher prevalence of other oral habits agreed with the postoperative counseling to remove the pacifier sucking habit when the child is submitted to palatoplasty, possibly representing a substitution of habits. There was no causal relationship between habits and presence of palatal fistulae. PMID:23533744

  17. Alveolar Bone Grafting in Cleft Patients from Bone Defect to Dental Implants

    PubMed Central

    Vuletić, Marko; Jokić, Dražen; Rebić, Jerko; Žabarović, Domagoj; Macan, Darko

    2014-01-01

    Cleft lip and palate is the most common congenital deformity affecting craniofacial structures. Orofacial clefts have great impact on the quality of life which includes aesthetics, function, psychological impact, dental development and facial growth. Incomplete fusion of facial prominences during the fourth to tenth week of gestation is the main cause. Cleft gaps are closed with alveolar bone grafts in surgical procedure called osteoplasty. Autogenic bone is taken from the iliac crest as the gold standard. The time of grafting can be divided into two stages: primary and secondary. The alveolar defect is usually reconstructured between 7 and 11 years and is often related to the development of the maxillary canine root. After successful osteoplasty, cleft defect is closed but there is still a lack of tooth. The space closure with orthodontic treatment has 50-75% success. If the orthodontic treatment is not possible, in order to replace the missing tooth there are three possibilities: adhesive bridgework, tooth transplantation and implants. Dental implant has the role of holding dental prosthesis, prevents pronounced bone atrophy and loads the augmentation material in the cleft area. Despite the fact that autologous bone from iliac crest is the gold standard, it is not a perfect source for reconstruction of the alveolar cleft. Bone morphogenic protein (BMP) is appropriate as an alternative graft material. The purpose of this review is to explain morphology of cleft defects, historical perspective, surgical techniques and possibilities of implant and prosthodontic rehabilitation.

  18. Environmental factors related to the occurrence of oral clefts in a Brazilian subpopulation

    PubMed Central

    Campos Neves, Ana Thereza de Saboia; Volpato, Luiz Evaristo Ricci; Espinosa, Mariano Martinez; Aranha, Andreza Maria Fabio; Borges, Alvaro Henrique

    2016-01-01

    Background: A cross-sectional study was conducted at the Craniofacial Rehabilitation Center in the General Hospital of the University of Cuiabá, Cuiabá city, Mato Grosso, Brazil. Materials and Methods: Poisson regression model was used to analyze the relationship between antenatal factors and the occurrence of oral clefts in 116 patients. Results: Oral clefts were more common in males (64.66%) and White race (46.02%). The mean age of the children was 21.91 months. The most common type of cleft was cleft lip and palate (CLP, 55.17%). Maternal and paternal smoking in the first trimester of pregnancy and parity were significantly associated with the occurrence of CLP. Parent's age, educational level, and occupation did not interfere in the occurrence of oral clefts. There was also no significant association between maternal illness, medication use, alcohol consumption, and maternal exposure to chemicals in the first trimester of pregnancy and the occurrence of clefts in this population. Conclusion: The analysis of the environmental factors present during the pregnancy of children with oral clefts revealed a significant association between parity (second onward), maternal smoking, and paternal smoking and the occurrence of CL and/or palate in this population. PMID:27397957

  19. Establishing an antenatal group for families with a diagnosis of cleft lip.

    PubMed

    Douglas, Lynn

    2012-06-01

    U.K. cleft teams offer antenatal packages of care, which seek to be research based and respond locally to national standards of care set by the U.K. cleft nurse's special interest group (SIG). In April 2010 the 18-to-20-week National Health Service (NHS) Foetal Anomaly Ultrasound Scan Programme (FASP) standards and guidance for England were changed to include routine screening of the face to improve national pick up rates for cleft lip, which should increase referrals to cleft teams. This article aims to discuss the development of a specialist cleft antenatal group, established as a collaborative project between clinical nurse specialists (CNS) and clinical psychologists in the north-west England, Isle of Man and North Wales (NWNW) Cleft Network. Two pilot groups ran in 2008. Families referred to the team in the antenatal period were invited to attend a 'one-off' group before their child's birth. The group aim was to facilitate parental adjustment to cleft diagnosis in the antenatal period. Regular groups were then established in both network surgical hubs (Alder Hey and Royal Manchester Children's Hospitals (AHCH and RMCH)) every three or four months as part of the routine package of care provided by the team. Attendance at these groups ranged from 30-50% of those invited between 2008 to 2011. Feedback forms from attendees have informed the evolution of the group. The groups facilitate peer support at an important adjustment time for families.

  20. Electrical properties of sheep Purkinje strands. Electrical and chemical potentials in the clefts.

    PubMed Central

    Levis, R A; Mathias, R T; Eisenberg, R S

    1983-01-01

    The impedence of sheep Purkinje strands, measured to 3-5 kHz, is interpreted with circuit models based on morphology. The strand is described as a one-dimensional electrical cable. Clefts between myocytes of the strand allow radial current to flow in parallel with current across the outer membrane. A lumped model of the clefts, in which all the cleft membrane is in series with 100 omega-cm2, fits only below 20 Hz. Two distributed models, pie and disk, fit at all frequencies with somewhat different (31%) luminal resistivities, but with similar membrane parameters. Series resistance representing the endothelial sheath is small. Simulations of voltage clamp experiments include measured linear parameters and nonlinear membrane channels, as well as radial variation of cleft concentration, membrane flux, voltage, and current. Cleft potential is drastically nonuniform when sodium current flows. Cleft potential is reasonably uniform when calcium and potassium currents flow, but the calcium and potassium concentrations change markedly, enough to turn off the calcium current, even if the calcium channel did not inactivate. We conclude that physiological current flows produce significant nonuniformities in electrochemical potentials in the clefts of this cardiac preparation. PMID:6360228

  1. Could redox-switched binding of a redox-active ligand to a copper(II) centre drive a conformational proton pump gate? A synthetic model study.

    PubMed

    He, Zhicong; Colbran, Stephen B; Craig, Donald C

    2003-01-01

    A proposal for a redox-linked conformational gate to proton translocation--a proton pump gate--based upon a transition-metal redox-switchable hemilabile ligand (RHL) system is made. Consideration of the requirements for such a system reveals copper(II) to be the ideal metal centre. To test the proposal and, thereby, to provide an artificial proton pump gate, the copper coordination chemistry of three tris(pyridylmethyl)amine (tpa) ligands with one "leg" (PY*) substituted at the 6-position of the pyridine ring by a dimethoxyphenyl (L(1)), a hydroquinone (H(2)L(2)) or a quinone (L(3)) substituent has been investigated. Crystal structures of sp-[Cu(kappa(4)N-L(1))Cl]Cl.3 H(2)O (sp=square pyramidal), sp-[Cu(kappa(3)N-H(2)L(2))Cl(2)] and tbp-[Cu(kappa(4)N,kappaO-HL(2))][PF(6)] (tbp=trigonal bipyramidal) have been determined. The Cu(I) complexes [Cu(L)(MeCN)(n)](+) (L=L(1), H(2)L(2)) display physicochemical properties consistent with a "dangling" PY* leg; from the NMR spectra, the barriers to inversion of the ligand amine donor for the Cu(I) complexes are estimated to be within the range of about 30-45 kJ mol(-1). In the Cu(II) complexes, coordination of the PY* leg is finely balanced and critically depends on the nature of the PY* substituent and the availability of potential co-ligand(s). For example, tbp-[Cu(kappa(4)N-L(1))Cl](+) reacts cleanly with Cl(-) ions to afford sp-[Cu(kappa(3)N-L(1))Cl(2)]; Vis/NIR spectrophotometric titrations suggest the affinity of tbp-[Cu(kappa(4)N-L(1))Cl](+) for Cl(-) ion in dichloromethane is 9.7 x 10(2) and is at least 10(4)-fold greater than that of tbp-[Cu(kappa(4)N-L(3))Cl](+). The complex sp-[Cu(kappa(3)N-H(2)L(2))Cl(2)] has a "dangling" PY* leg, in which an intramolecular OH(hydroquinone).N(pyridine) hydrogen bond "ties-up" the pyridyl nitrogen atom, and reacts with Brønsted bases to give tbp-[Cu(kappa(4)N,kappaO-HL(2))](+). Two-electron oxidation of sp-[Cu(kappa(3)N-H(2)L(2))Cl(2)] is linked to loss of two protons and a

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

    SciTech Connect

    Stein, J.; Hecht, T.; Stal, S.

    1995-08-01

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

  3. SATB2 gene variants in non-syndromic cleft lip with or without cleft palate in Indian population

    PubMed Central

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

    2015-01-01

    Objectives Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial birth defects and little is known about its aetiology. Initial studies of cytogenetic analysis provided the clues for possible genes involved in the pathogenesis of NSCL/P. This approach led to the identification of SATB2 gene on 2q32-q33. The aim of this study was to determine the association between SATB2 mutations and NSCL/P. Materials and methods The rs137853127, rs200074373 and rs1992950 mutations of the SATB2 gene were investigated in 173 patients with NSCL/P and 176 normal controls using Kbioscience KASPar chemistry, which is a competitive allele-specific PCR SNP genotyping system. Results The mutations in exon 6 (rs137853127 and rs200074373) were monomorphic, the intronic variant (rs1992950) was polymorphic and genotype distribution was in agreement with Hardy–Weinberg equilibrium. The rs1992950 genotype distribution is not statistically significant between NSCL/P and controls. Conclusion Our findings suggest that the SATB2 gene variations do not contribute to the development of NSCL/P in the south Indian population. PMID:26605140

  4. Objective tools to analyze the lower lateral cartilage in unilateral cleft lip nasal deformities.

    PubMed

    Saleh, Mohamed A; Elshahat, Ahmed; Emara, Maher; Hussein, Heba; Gould, Lisa; Smith, David; Awad, Mostafa A

    2011-07-01

    Correction of cleft lip nasal deformity is an elusive goal. A controversy exists regarding the cause of the deformity, and therefore, there is a controversy of how to correct the deformity. Extrinsic theory is based on the presence of deformational forces from outside. The intrinsic theory is associated with deficiency of the lower lateral cartilage. The aim of this study was to use new objective tools to compare morphologically and histologically between the lower lateral cartilages of cleft and noncleft sides in patients with unilateral cleft lip nasal deformity. This study included 16 patients. They were operated on to correct unilateral cleft lip nasal deformity. Length, width, and thickness of lateral crura of the lower lateral cartilages of cleft and noncleft sides were measured. Punch biopsies from the middle part of the caudal ends of lateral crura were taken and sent for histologic and immunohistochemical studies. The lateral crura of the cleft side were significantly wider and shorter and tend to be thinner than those of the noncleft side. There was no significant difference in the chondroblast, chondrocyte, and total cellular number in the lower lateral cartilage of the cleft and noncleft sides. There was significantly less glycosaminoglycan content in the ground matrix of the lower lateral cartilage of cleft side. In conclusion, the use of digital sliding caliber in measuring the diminutions of the lower lateral cartilage and image analyzer to quantify the proteoglycans, glycosaminoglycans, fibroblast growth factor 18, and collagen content is very effective objective tools to compare the cleft and noncleft alar cartilage. PMID:21772161

  5. High Dosage Folic Acid Supplementation, Oral Cleft Recurrence and Fetal Growth

    PubMed Central

    Wehby, George L.; Félix, Têmis Maria; Goco, Norman; Richieri-Costa, Antonio; Chakraborty, Hrishikesh; Souza, Josiane; Pereira, Rui; Padovani, Carla; Moretti-Ferreira, Danilo; Murray, Jeffrey C.

    2013-01-01

    Objectives: To evaluate the effects of folic acid supplementation on isolated oral cleft recurrence and fetal growth. Patients and Methods: The study included 2,508 women who were at-risk for oral cleft recurrence and randomized into two folic acid supplementation groups: 0.4 and 4 mg per day before pregnancy and throughout the first trimester. The infant outcome data were based on 234 live births. In addition to oral cleft recurrence, several secondary outcomes were compared between the two folic acid groups. Cleft recurrence rates were also compared to historic recurrence rates. Results: The oral cleft recurrence rates were 2.9% and 2.5% in the 0.4 and 4 mg groups, respectively. The recurrence rates in the two folic acid groups both separately and combined were significantly different from the 6.3% historic recurrence rate post the folic acid fortification program for this population (p = 0.0009 when combining the two folic acid groups). The rate of cleft lip with palate recurrence was 2.9% in the 0.4 mg group and 0.8% in the 4 mg group. There were no elevated fetal growth complications in the 4 mg group compared to the 0.4 mg group. Conclusions: The study is the first double-blinded randomized clinical trial (RCT) to study the effect of high dosage folic acid supplementation on isolated oral cleft recurrence. The recurrence rates were similar between the two folic acid groups. However, the results are suggestive of a decrease in oral cleft recurrence compared to the historic recurrence rate. A RCT is still needed to identify the effect of folic acid on oral cleft recurrence given these suggestive results and the supportive results from previous interventional and observational studies, and the study offers suggestions for such future studies. The results also suggest that high dosage folic acid does not compromise fetal growth. PMID:23380913

  6. National Centre of Educational Technology

    ERIC Educational Resources Information Center

    Simon, Gy

    1974-01-01

    A discussion of the social, political and economic background which led to the establishment of the Hungarian National Centre of Educational Technology and made essential the development of a national network of bases for promoting educational technology. (Author)

  7. An epidemiological and genetic study of facial clefting in France. I. Epidemiology and frequency in relatives.

    PubMed Central

    Bonaiti, C; Briard, M L; Feingold, J; Pavy, B; Psaume, J; Migne-Tufferaud, G; Kaplan, J

    1982-01-01

    The frequencies of cleft lip with or without cleft palate (CL(P)) and isolated cleft palate (CP) have been estimated in France to be 0.082% and 0.035%, respectively, after exclusion of malformation syndromes. A genetic and epidemiological study has been carried out on 468 patients with CL(P) and 163 with CP. The results are given in detail and some specific points are discussed: the apparently low incidence in France, the relationship between sex ratio and abortion rates, the maternal effects, and the possibility of an association between CL(P) and CP. PMID:7200146

  8. TGF-alpha genotypes, oral clefts, and environmental risk factors: A population-based California study

    SciTech Connect

    Shaw, G.M.; Wasserman, C.R.; Lammer, E.J.

    1994-09-01

    Several studies have shown a relation between genetic variation at the TGF-alpha locus and oral clefts. These studies had limited sample sizes and also lacked data on additional factors potentially related to clefting. We investigated the influence on clefting from risk factors, such as maternal smoking, dependent on TFG-alpha genotype. This was accomplished using a large population-bases case-control study of fetuses and liveborn infants with oral clefts among a 1987-89 cohort of California births (N=548,844). To obtain data on potential risk factors, telephone interviews were conducted with mothers of 731 (84.5% of eligible) cleft cases, and 734 (78.2%) nonmalformed controls. DNA was obtained from newborn screening bloodspots and genotyped by using SSCP designed to detect the Taq1 RFLP. Among mothers who completed an interview, genotyping results were available for 571 (78.1%) cases and 640 (87.2%) controls. Compared to controls, the risk estimate for TGF-alpha polymorphism as measured by the odds ratio was: 0.99 (95% confidence interval 0.64, 1.5) for isolated cleft lip {plus_minus}palate; 0.88 (0.33, 2.2) for nonisolated cleft lip {plus_minus}palate; 1.6 (0.94, 2.8) for isolated cleft palate; 1.9 (0.82, 4.3) for nonisolated cleft palate; and 2.2 (0.99, 5.0) for clefts with known etiology. This dataset also revealed 1.4 to 2-fold increased risks for maternal cigarette smoking > 19 cigs/day in early pregnancy. Among these heavy smokers, risk of clefting was even more increased for infants with the TGF-alpha polymorphism. Our data suggest an association between the TGF-alpha uncommon allele and some phenotypic subgroups as well as provide evidence for a genetic-environment interaction between maternal smoking and the variant in the etiology of clefting. The fraction of cases possibly attributed to this interaction, however, was small.

  9. Through-Solvent Tunneling in Donor-Bridge-Acceptor Molecules Containing a Molecular Cleft.

    PubMed

    Graff, B M; Lamont, D N; Parker, M F L; Bloom, B P; Schafmeister, C E; Waldeck, D H

    2016-08-01

    Photoinduced electron transfer is used to investigate the solvent-mediated electron tunneling between electron donor and acceptor groups in polar solvents. Bis-peptide scaffolds are used to control the spatial positioning of electron donor and acceptor groups and create a molecular cleft. The photoinduced electron transfer is studied for two different cleft sizes, and the electronic coupling is found to be controlled by the nature of the solvent and the ability of the molecular cleft to accommodate it, as well as interact directly with it. These studies demonstrate the importance of electron tunneling through nonbonded contacts and reveal a strategy for examining such tunneling pathways in polar solvents. PMID:27401503

  10. Contemporary design for 'landmark' centre.

    PubMed

    2009-08-01

    As one of the UK's largest builders of healthcare facilities, construction company Morgan Ashurst is accustomed to delivering complex, challenging hospital projects. The construction of a new oncology centre at Musgrove Park Hospital, Taunton for Taunton and Somerset NHS Foundation Trust-- said to be the first new stand-alone radiotherapy centre to be built in the UK for almost 20 years--was no exception. Health Estate Journal reports. PMID:19711668

  11. Using Student Centred Evaluation for Curriculum Enhancement: An Examination of Undergraduate Physiotherapy Education in Relation to Physical Activity and Exercise Prescription

    ERIC Educational Resources Information Center

    O'Donoghue, Grainne; Doody, Catherine; Cusack, Tara

    2011-01-01

    The purpose of this study was to examine physiotherapy students' perceptions of current education content of entry-level physiotherapy programmes in terms of physical activity (PA) and exercise promotion and prescription (EPP). Sixty-two physiotherapy students from three Irish Universities participated. Three Structured Group Feedback Sessions…

  12. RTEMS Centre - Support and Maintenance Centre to RTEMS Operating System

    NASA Astrophysics Data System (ADS)

    Silva, H.; Constantino, A.; Freitas, D.; Coutinho, M.; Faustino, S.; Mota, M.; Colaço, P.; Sousa, J.; Dias, L.; Damjanovic, B.; Zulianello, M.; Rufino, J.

    2009-05-01

    RTEMS CENTRE - Support and Maintenance Centre to RTEMS Operating System is a joint ESA/Portuguese Task Force initiative to develop a support and maintenance centre to the Real-Time Executive for Multiprocessor Systems (RTEMS). This paper gives a high level visibility of the progress, the results obtained and the future work in the RTEMS CENTRE [6] and in the RTEMS Improvement [7] projects. RTEMS CENTRE started officially in November 2006, with the RTEMS 4.6.99.2 version. A full analysis of RTEMS operating system was produced. The architecture was analysed in terms of conceptual, organizational and operational concepts. The original objectives [1] of the centre were primarily to create and maintain technical expertise and competences in this RTOS, to develop a website to provide the European Space Community an entry point for obtaining support (http://rtemscentre.edisoft.pt), to design, develop, maintain and integrate some RTEMS support tools (Timeline Tool, Configuration and Management Tools), to maintain flight libraries and Board Support Packages, to develop a strong relationship with the World RTEMS Community and finally to produce some considerations in ARINC-653, DO-178B and ECSS E-40 standards. RTEMS Improvement is the continuation of the RTEMS CENTRE. Currently the RTEMS, version 4.8.0, is being facilitated for a future qualification. In this work, the validation material is being produced following the Galileo Software Standards Development Assurance Level B [5]. RTEMS is being completely tested, errors analysed, dead and deactivated code removed and tests produced to achieve 100% statement and decision coverage of source code [2]. The SW to exploit the LEON Memory Management Unit (MMU) hardware will be also added. A brief description of the expected implementations will be given.

  13. Augmented BMPRIA-mediated BMP signaling in cranial neural crest lineage leads to cleft palate formation and delayed tooth differentiation.

    PubMed

    Li, Lu; Wang, Ying; Lin, Minkui; Yuan, Guohua; Yang, Guobin; Zheng, Yuqian; Chen, Yiping

    2013-01-01

    The importance of BMP receptor Ia (BMPRIa) mediated signaling in the development of craniofacial organs, including the tooth and palate, has been well illuminated in several mouse models of loss of function, and by its mutations associated with juvenile polyposis syndrome and facial defects in humans. In this study, we took a gain-of-function approach to further address the role of BMPR-IA-mediated signaling in the mesenchymal compartment during tooth and palate development. We generated transgenic mice expressing a constitutively active form of BmprIa (caBmprIa) in cranial neural crest (CNC) cells that contributes to the dental and palatal mesenchyme. Mice bearing enhanced BMPRIa-mediated signaling in CNC cells exhibit complete cleft palate and delayed odontogenic differentiation. We showed that the cleft palate defect in the transgenic animals is attributed to an altered cell proliferation rate in the anterior palatal mesenchyme and to the delayed palatal elevation in the posterior portion associated with ectopic cartilage formation. Despite enhanced activity of BMP signaling in the dental mesenchyme, tooth development and patterning in transgenic mice appeared normal except delayed odontogenic differentiation. These data support the hypothesis that a finely tuned level of BMPRIa-mediated signaling is essential for normal palate and tooth development.

  14. 3V: cavity, channel and cleft volume calculator and extractor

    PubMed Central

    Voss, Neil R.; Gerstein, Mark

    2010-01-01

    As larger macromolecular structures become available, there is a growing need to understand their ‘internal’ volumes—such as deep clefts, channels and cavities—as these often play critical roles in their function. The 3V web server can automatically extract and comprehensively analyze all the internal volumes from input RNA and protein structures. It rapidly finds internal volumes by taking the difference between two rolling-probe solvent-excluded surfaces, one with as large as possible a probe radius and the other with a solvent radius (typically 1.5 Å for water). The outputs are volumetric representations, both as images and downloadable files, which can be used for further analysis. The 3V server and source code are available from http://3vee.molmovdb.org. PMID:20478824

  15. The Coexistence of Rathke Cleft Cyst and Pituitary Adenoma.

    PubMed

    Gao, Mingtong; An, Yanyan; Huang, Zhihong; Niu, Jianyi; Yuan, Xunhui; Bai, Yun'an; Guo, Liemei

    2016-03-01

    Both of Pituitary adenoma (PA) and Rathke cleft cyst (RCC) are the most common and benign sellar lesions. Generally, the origin of RCC is considered to be derived from remnants of Rathke punch, while PA is formed by proliferation of the anterior wall of Rathke pouch. Although they have a possibility to share a common embryological origin, the coexistence of PA and RCC is extremely rare. Here, the authors report a 50-year-old male patient who was found to have a large cystic sellar lesion, and surgical resection revealed components of a RCC coexisting with a PA. This collision reminded us of the possibility of RCC coexisting with PA. Furthermore, a clinicopathologic relation of them were reviewed and investigated.

  16. 20 years of cleft lip and palate missions

    PubMed Central

    Lambrecht, J. Thomas; Kreusch, Thomas; Marsh, Jeff L.; Schopper, Christian

    2014-01-01

    Volunteer missions for cleft lip and palate (CLP) care in Indonesia (1991-1992), India (1994-2003), Bhutan (2005-2010), and Kenya (2011), took place always at the same Hospital in each country. Altogether over a thousand patients were operated using a conservative protocol: Safety first - no experiments. Five months and 5 kg were the basic rules. For the native doctors, training help for self-help was priority. In the announcements, patients with CLP were primarily addressed. Burns, contractions, tumors, and trauma-cases were the second priority. Fresh trauma was done in night shifts with the local surgeons in order not to interfere. Besides facial esthetics speech was the number one issue, following priorities fell into place. Cultural aspects played a certain role in the different countries and continents. PMID:25593861

  17. Speech analyses of four children with repaired cleft palates.

    PubMed

    Powers, G R; Dunn, C; Erickson, C B

    1990-08-01

    Four males with surgically repaired cleft palates, between 3 years 2 months and 3 years 11 months of age, served as subjects. Speech samples were collected and subjected to a number of analyses, including phonetic inventories and analysis of phonological processes. Frequency counts of error types, including gross or compensatory substitutions, were also tallied. The results revealed that the subjects were similar to one another with respect to their phonetic inventories. They differed considerably, however, in the frequency and types of phonological processes used. Those differences may be attributed to variations in language skills. The data strongly suggest that not all of the articulatory problems among the children can be explained solely on the basis of present or past structural deficits.

  18. Cleft palate development in hamster embryos following triamcinolone treatment.

    PubMed Central

    Shah, R M

    1979-01-01

    Development of the palate was studied in normal and triamcionolone-treated hamster fetuses. The results demonstrated that normal palatogenesis was completed between days 12 and 13 of gestation. Following triamcinolone treatment the reorientation of the palatal shelves was delayed before there was any general retardation of fetal growth (as indicated by crown-rump length and body weight). Since triamcinolone affected palatogenesis at an earlier stage than hydrocortisone, the view that the former is a more potent teratogen was supported. Chronological age, fetal weight and crown-rump length were reliable predictors of normal palatogenesis in the hamster, whereas the numerical morphological rating systems were not. Neither measures of general fetal growth, nor numerical rating, were useful in predicting the stages of experimentally induced cleft palate, since triamcinolone appears to be site-specific, and the drug does not produce a general retardation of embryonic development. PMID:575531

  19. A glycosynthase derived from an inverting chitinase with an extended binding cleft.

    PubMed

    Ohnuma, Takayuki; Dozen, Satoshi; Honda, Yuji; Kitaoka, Motomitsu; Fukamizo, Tamo

    2016-08-01

    We created a glycosynthase from a GH19 chitinase from rye seeds (RSC-c), that has a long-extended binding cleft consisting of eight subsites; -4, -3, -2, -1, +1, +2, +3 and +4. When wild-type RSC-c was incubated with α-(GlcNAc)3-F [α-(GlcNAc)3 fluoride], (GlcNAc)3 and hydrogen fluoride were produced through the Hehre resynthesis-hydrolysis mechanism. Glu89, which acts as a catalytic base, and Ser120, which fixes a nucleophilic water molecule, were mutated to produce two single mutants, E89G and S120A, and a double mutant, E89G/S120A. E89G only produced a small amount of (GlcNAc)7 from α-(GlcNAc)3-F in the presence of (GlcNAc)4 S120A, with the highest F(-)-releasing activity, produced a larger amount of (GlcNAc)7, a fraction of which was decomposed by its own residual hydrolytic activity. However, the double mutant E89G/S120A, of which the hydrolytic activity was completely abolished while its F(-)-releasing activity was only moderately affected, produced the largest amount of (GlcNAc)7 from α-(GlcNAc)3-F and (GlcNAc)4 without decomposition. We concluded that E89G/S120A was an efficient glycosynthase, that enabled the addition of a three-sugar unit. PMID:26908157

  20. Primary repair of an incomplete unilateral cleft lip: avoiding an elongated lip and achieving a straight suture line.

    PubMed

    Nakajima, T; Yoshimura, Y; Yoneda, K; Nakanishi, Y

    1998-10-01

    The methods designed for the repair of a complete cleft lip should not be used to repair an incomplete cleft lip. This results too often in the postoperative drooping of the white lip on the affected side because in most incomplete cleft lips there is more tissue on the cleft side than in complete cleft lip. We present and discuss the refinements we made in our original technique for complete cleft lip in order to adapt it to incomplete cleft lip repair. The skin design at the white skin roll follows Cronin's method with an incision perpendicular to the vermilion border. The suture that pulls the edges of the angular incisions together pushes on the white skin roll caudally. This ensures that the peak of the Cupid's bow on the cleft side does not droop postoperatively. It also ensures that it does not take on an acute angle and that the vermilion border will be a continuous line without a break. We do not create a triangular flap at the vermilion border, but we raise a triangular flap at the alar base on the cleft side and advance it to the bottom of the columella. This creates the nostril sill and corrects the flared alar base. The resulting suture line is completely straight and runs along the philtral column. In this way, the postoperative elongation of the white lip on the cleft side can be prevented.

  1. TCDD disrupts posterior palatogenesis and causes cleft palate.

    PubMed

    Yamada, Tomohiro; Hirata, Azumi; Sasabe, Eri; Yoshimura, Tomohide; Ohno, Seiji; Kitamura, Naoya; Yamamoto, Tetsuya

    2014-01-01

    Dioxins (e.g. 2,3,7,8-tetrachlorodibenzo-p-dioxin; TCDD) cause cleft palate at a high rate. A post-fusional split may contribute to the pathogenesis, and tissue fragility may be a concern. The objective of this study was to investigate the effects of TCDD on the palatal epithelium, bone and muscle, which contribute to tissue integrity. ICR mice (10-12 weeks old) were used. TCDD was administered on E12.5 at 40 mg/kg. Immunohistochemical staining for AhR, ER-α, laminin, collagen IV, osteopontin, Runx2, MyoD, and desmin were performed. Furthermore, western blot analysis for osteopontin, Runx2, MyoD, and desmin were performed to evaluate protein expression in the palatal tissue. Immunohistologically, there was little difference in the collagen IV and laminin localization in the palatal epithelium between control versus TCDD-treated mice. Runx2 and osteopontin immunoreactivity decreased in the TCDD-treated palatal bone, and MyoD and desmin decreased in the TCDD-treated palatal muscle. AhR and ER-α immunoreactivity were localized to the normal palatal bone, but ER-α was diminished in the TCDD-treated palate. On western blot analysis, Runx2, MyoD, and desmin were all downregulated in the TCDD-treated palate. TCDD may suppress palatal osteogenesis and myogenesis via AhR, and cause cleft palates via a post-fusional split mechanism, in addition to a failure of palatal fusion.

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

    PubMed Central

    Svenstrup, Martin; Pedersen, Thomas Klit; Küseler, Annelise; Jensen, John; Nørholt, Sven Erik

    2015-01-01

    ABSTRACT 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 osteogenesis group (DOG). Seven patients comprised the orthognathic treatment group (CONVG). Skeletal and soft tissue points were traced on lateral cephalograms: T1 (preoperatively), T2 (after surgery), T3 (follow-up). Group differences were analyzed using Students t-test. Results At T1-T2, advancement of 6.98 mm (P = 0.002) was observed in DOG. Horizontal overjet increased 11.62 mm (P = 0.001). A point-nasion-B point (ANB) angle increased 8.82° (P = 0.001). Aesthetic plane to upper lip was reduced 5.44 mm (P = 0.017) and the naso-labial angle increased 16.6° (P = 0.001). Vertical overbite (VOB) increased 2.27 mm (P = 0.021). In T2-T3, no significant changes were observed in DOG. In T1-T2, horizontal overjet increased 8.45 mm (P = 0.02). The ANB angle, 9.33° (P = 0.009) in CONVG. At T2-T3, VOB increased, 2.35 mm (P = 0.046), and the ANB angle reduced, 3.83° (P = 0.003). In T2-T3, no parameters 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 of the maxilla and movement upwards in vertical plane, however in case of orthognathic treatment sagittal relapse and a continued postoperatively downward movement was registered. PMID:26229581

  3. Rocket-borne particle, field, and plasma observations in the cleft region. [ionospheric sounding

    NASA Technical Reports Server (NTRS)

    Ungstrup, E.; Bahnsen, A.; Olesen, J. K.; Primdahl, F.; Spangslev, F.; Heikkila, W. J.; Klumpar, D. M.; Winningham, J. D.; Fahleson, U.; Falthammar, C.-G.

    1975-01-01

    Results are reported for comprehensive observations of magnetic and electric fields together with ambient and suprathermal plasmas above the dayside auroral oval with rocket-borne instrumentation which penetrated the cleft region. Measurements were also obtained equatorward and poleward of the cleft. Convection velocities as inferred from electric-field measurements were generally toward noon equatorward of the cleft and were antisunward over the polar cap. Observations of electron temperatures, electric fields, and low-frequency electrostatic noise provide strong evidence of a plasma instability (Farley-Buneman) in the E-layer associated with the appearance of the 'slant E condition' identified in ground-acquired ionograms. The positions of these measurements relative to that of the cleft were firmly established via the determination of the plasma environment with an electrostatic analyzer.

  4. Ectrodactyly, Ectodermal dysplasia, and Cleft Lip-Palate Syndrome; Its Association with Conductive Hearing Loss

    ERIC Educational Resources Information Center

    Robinson, Geoffrey C.; And Others

    1973-01-01

    Conductive hearing loss associated with the ectrodactyly, ectodermal dysplasia, and cleft lip palate syndrome was reported in one sporadic case and in a pedigree with four cases in three generations. (GW)

  5. Management of feeding Problem in a Patient with Cleft Lip/Palate.

    PubMed

    Goswami, Mridula; Jangra, Babita; Bhushan, Urvashi

    2016-01-01

    In a child with cleft lip and/or palate, nutrition is the first priority as for any other child. These children have specific physical limitations. To fulfill their nutritional requirement, these children need modifications in order to thrive and grow. Failure to adjust to these needs could place the children into a potential life-threatening situation. One of the immediate problems to be addressed in a newborn with cleft lip/palate is difficulty in feeding. Nasal regurgitation and choking are common because of inability of the palate to separate the nasal and oral cavities. The case presented here discusses the management of feeding problem in the infant with cleft lip/palate. How to cite this article: Goswami M, Jangra B, Bhushan U. Management of feeding Problem in a Patient with Cleft Lip/ Palate. Int J Clin Pediatr Dent 2016;9(2):143-145. PMID:27365936

  6. Dental surgery under general anesthesia for preschool patients with orofacial clefts.

    PubMed

    Karp, Jeffrey M

    2009-01-01

    Preschool children with orofacial clefts are prone to develop early childhood caries (ECC). Management of ECC often necessitates the use of general anesthesia, yet little information is published about this treatment approach in cleft patients. The purpose of this article was to describe the hospital core of 12 patients with orofacial clefts (mean age = 44 months; range = 22-62 months) and ECC treated in 15 total dental surgeries under general anesthesia. The mean surgical time was 85 minutes (range = 35-134 minutes). Severe ECC was diagnosed in all cases, with 83 percent of patients having 10 or more carious teeth. Preformed metal crowns and extractions were performed on 30 percent and 15 percent of all primary teeth, respectively. This case series found the clinical presentation of ECC in patients with orofacial clefts to be comparable to the noncleft populotion. Treatment of ECC is feasible through dental surgery under general anesthesia with appropriate perioperotive planning.

  7. Cleft lip and palate genetics and application in early embryological development

    PubMed Central

    Yu, Wenli; Serrano, Maria; Miguel, Symone San; Ruest, L. Bruno; Svoboda, Kathy K.H.

    2009-01-01

    The development of the head involves the interaction of several cell populations and coordination of cell signalling pathways, which when disrupted can cause defects such as facial clefts. This review concentrates on genetic contributions to facial clefts with and without cleft palate (CP). An overview of early palatal development with emphasis on muscle and bone development is blended with the effects of environmental insults and known genetic mutations that impact human palatal development. An extensive table of known genes in syndromic and non-syndromic CP, with or without cleft lip (CL), is provided. We have also included some genes that have been identified in environmental risk factors for CP/L. We include primary and review references on this topic. PMID:19884679

  8. Cleft lip and palate genetics and application in early embryological development.

    PubMed

    Yu, Wenli; Serrano, Maria; Miguel, Symone San; Ruest, L Bruno; Svoboda, Kathy K H

    2009-10-01

    The development of the head involves the interaction of several cell populations and coordination of cell signalling pathways, which when disrupted can cause defects such as facial clefts. This review concentrates on genetic contributions to facial clefts with and without cleft palate (CP). An overview of early palatal development with emphasis on muscle and bone development is blended with the effects of environmental insults and known genetic mutations that impact human palatal development. An extensive table of known genes in syndromic and non-syndromic CP, with or without cleft lip (CL), is provided. We have also included some genes that have been identified in environmental risk factors for CP/L. We include primary and review references on this topic.

  9. Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia.

    PubMed

    Karthikeyani, Shanmugasundaram; Thirumurthy, Velliangattur Ramasamy; Yuvaraja, Bindhoo A

    2016-01-01

    Rapp-Hodgkin syndrome (RHS) is a rare type of autosomal dominant disorder characterized by association of ectodermal dysplasia (ED) with cleft lip/palate. The main features include dry, brittle hair with alopecia in adulthood, dental anomalies (hypodontia, microdontia with delayed eruption, fissured tongue, and retruded maxilla), hypohidrosis, dysplastic nails, and clefting. Palmar-plantar keratoderma is seen frequently. RHS has signs and symptoms that overlap considerably with those of ankyloblepharon-ED-clefting syndrome and ectrodactyly-ED-clefting syndrome. This manuscript discusses a case of RHS, one of the four members in three generations who had ED with variable degree of involvement of hair, teeth, nail, and sweat glands. PMID:27080974

  10. A Innovative Technique - Modified Feeding Bottle for a Cleft Palate Infant.

    PubMed

    Hiremath, Vinuta Siddayya; Lingegowda, Ashwini Budunur; Rayannavar, Sounyala; Kumari, Nirmala

    2016-04-01

    Cleft lip and cleft palate are one of the most common craniofacial anomalies. Infants suffer a lot of difficulty in sucking during the initial few days after birth. There is even psychological stress to the parents due to improper feeding and the infants lose weight and are prone to nutritional insufficiency. Due to recent advancement in the medical field, there is a total repair of cleft lip and cleft palate and these procedures are performed in the later stages of infants. It is the multidisciplinary approach which includes pedodontist, oral surgeon, prosthodontist and speech therapist. In this article, the technique is highlighted to fulfill the feeding problem of infants in the early stages of birth with a modified feeding bottle. PMID:27190971

  11. A new method for achieving complete two-layer closure of a massive palatal cleft.

    PubMed

    Bumsted, R M

    1982-03-01

    A new surgical technique was used to provide a complete two-layer closure of an extremely wide cleft palate in cases in which the width of the cleft defect is larger than the sum of the combined widths of the remaining palate. The oral layer of closure is obtained by the use of turnover flaps of the nasal mucoperiosteum based on the margin of the cleft. This recruits the nasal mucosal flap into the oral layer of closure and allows adequate width for complete closure of the oral layer of the cleft. The nasal layer of closure is obtained by the use of a wide, long, superiorly based pharyngeal flap. This technique provides, in a single surgical procedure, a complete two-layer closure of extremely wide palatal defects. Previously, staged procedures were necessary to obtain a complete two-layer closure, or if a single procedure was performed, an incomplete two-layer closure resulted.

  12. Management of feeding Problem in a Patient with Cleft Lip/Palate

    PubMed Central

    Goswami, Mridula; Bhushan, Urvashi

    2016-01-01

    ABSTRACT In a child with cleft lip and/or palate, nutrition is the first priority as for any other child. These children have specific physical limitations. To fulfill their nutritional requirement, these children need modifications in order to thrive and grow. Failure to adjust to these needs could place the children into a potential life-threatening situation. One of the immediate problems to be addressed in a newborn with cleft lip/palate is difficulty in feeding. Nasal regurgitation and choking are common because of inability of the palate to separate the nasal and oral cavities. The case presented here discusses the management of feeding problem in the infant with cleft lip/palate. How to cite this article: Goswami M, Jangra B, Bhushan U. Management of feeding Problem in a Patient with Cleft Lip/ Palate. Int J Clin Pediatr Dent 2016;9(2):143-145. PMID:27365936

  13. Closure of a persistent cyclodialysis cleft using the haptics of a normal-sized intraocular lens.

    PubMed

    Shentu, Xingchao; Zhu, Yanan; Tang, Yelei

    2011-11-01

    A 50-year-old man suffering from hypotony in the right eye caused by a traumatic cyclodialysis and complicated by a choroidal detachment and cataract was treated in our clinic. After an unsuccessful direct cyclopexy, phacoemulsification was performed and a normal-sized single-piece polymethyl methacrylate posterior chamber intraocular lens (PMMA PCIOL) was inserted into the ciliary sulcus, with the haptic rotated toward the cyclodialysis cleft. Postoperatively, the corrected visual acuity improved to 20/20, and the intraocular pressure returned to normal. Ultrasound biomicroscopy showed the closure of the cleft. Phacoemulsification with a normal-sized PMMA PCIOL inserted into the ciliary sulcus is a safe, effective and technically simple surgical treatment for small cyclodialysis induced hypotony complicated by cataract. Internal compression of the cleft by the haptic of a normal sized IOL along with postoperative inflammation led to scarring and closure of the cleft.

  14. Perception of place of articulation by children with cleft palate and posterior placement.

    PubMed

    Whitehill, Tara L; Francis, Alexander L; Ching, Christine K Y

    2003-04-01

    The aim of this study was to determine if children with repaired cleft palate who demonstrate posterior placement of alveolar targets (e.g., /t(h)/ --> [k(h)]), known as Group P, differ from children with cleft palate without such an error pattern (Group NP) and from normally developing children without cleft palate (Group N) in the perception of /t(h)/ and /k(h)/. Ten age-matched children in each of these three groups identified 8 synthetic stimuli along an acoustic continuum ranging from /t(h)/ to /k(h)/. The children with posterior placement performed at random levels, appearing unable to distinguish /t(h)/ from /k(h)/. In contrast, both groups of children without posterior placement demonstrated a clear identification pattern. These results, which suggest that children with cleft palate and posterior placement have a perceptual deficit, contribute to discussion of the possible etiology of speech deficits in this population.

  15. Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome.

    PubMed

    Urban, M; Opitz, C; Bommer, C; Enders, H; Tinschert, S; Witkowski, R

    1998-09-23

    We report on a 13-year-old patient followed since birth. He is the only offspring of young, non-consanguineous German parents. His mother has an isolated left cleft of lip and a cleft palate. At birth, our patient presented with bilaterally cleft lip/cleft palate, phocomelia of upper limbs with normal hands, and mild symmetrical deficiencies of the long bones of the lower limbs. Haematological evaluation demonstrated a leukaemoid reaction during a urinary tract infection as well as intermittent thrombocytopenia and episodes of marked eosinophilia during the first two years of life. Intellectual development has been normal. Comparison with two similar cases from the literature suggests a non-random phenotypic overlap of Roberts syndrome (MIM 268300) and TAR syndrome (MIM 274000). Such clinical constellations may be key observations to understand the genetic relationship of Roberts syndrome and TAR syndrome in future phenotype-genotype correlations. PMID:9788553

  16. Clear double layer Bioplast feeding plate for neonates with cleft palate

    PubMed Central

    Yilmaz, R. Burcu Nur; Mutlu, Meltem; Germec-Cakan, Derya

    2015-01-01

    An infant with cleft palate was referred to cleft clinic of the Orthodontic Department. The mother was concerned to feed the child because of the escape of milk from the nose. Intraoral examination revealed a large palatal cleft extending from hard to soft palate involving uvula. The impression was taken and dental cast obtained. A 3 mm soft and afterward a 1 mm hard Bioplast plate was pressed using Biostar device (Scheu-Dental Gmbh, Iserlohn, Germany) on the model. Finally, a hole was prepared on the anterior part to put a thread through it. The infant tolerated the plate immediately and encounters no difficulties during feeding. The inlaying soft Bioplast plates eliminate the risk of tissue irritation, whereas the covering hard Bioplast plate supplies endurance. The fabrication of the clear Bioplast feeding plate is easy and less time-consuming compared with acrylic plates and may be recommended in crowded and overloaded cleft centers. PMID:26929704

  17. Prevalence and management of natal/neonatal teeth in cleft lip and palate patients

    PubMed Central

    Yilmaz, R. Burcu Nur; Cakan, Derya Germec; Mesgarzadeh, Nasim

    2016-01-01

    Objective: The aim of this study was to determine the prevalence and distribution of natal/neonatal teeth in infants with cleft lip and palate (CLP) according to gender, involving jaw and side and to show the management of some cases. Materials and Methods: A retrospective study was carried out on medical history and photographic records of 69 infants with CLP, who were treated at the CLP clinic of Yeditepe University between years 2014–2015. The presence of neonatal teeth was determined, and if present the gender, type of cleft, and position were recorded. Statistical analysis was performed. Results: Neonatal teeth were observed in 7% of the study group. No significant differences were found between cleft types and gender (P > 0.05). The prevalence of neonatal teeth in bilateral, unilateral and isolated cleft type was 16.5%, 6.5%, and none, respectively. All neonatal teeth were located in the maxilla and on the cleft-side (100%). Conclusion: The presence of natal/neonatal teeth in infants with CLP was not rare. In all of these cases the teeth were located adjacent to the cleft region. In isolated palatal cleft, where the alveolar region including the teeth buds are away from the cleft, no neonatal teeth were observed. It may be concluded that neonatal teeth in infants with CLP are frequently present and located inside the borders of the presurgical orthopedic treatment (POT) plate. Therefore, if possible, immediate extraction of the neonatal teeth is advised or if not possible because of systemic health reasons, modifications of the plate are required. PMID:27011740

  18. Wound complications after cleft repair in children with Van der Woude syndrome.

    PubMed

    Jones, Jodi L P; Canady, John W; Brookes, James T; Wehby, George L; L'Heureux, Jamie; Schutte, Brian C; Murray, Jeffrey C; Dunnwald, Martine

    2010-09-01

    Van der Woude syndrome (VWS; OMIM 119300) is an autosomal-dominant condition associated with clefts of the lip and/or palate and lower lip pits and is caused by mutations in interferon regulatory factor 6 (IRF6). The standard of practice for children born with cleft lip/palate is surgical repair, which requires proper wound healing. We tested the hypothesis that children with VWS are more likely to have wound complications after cleft repair than children with nonsyndromic cleft lip/palate (NSCLP). Furthermore, we hypothesized that children with VWS have more surgical procedures. A retrospective, case-controlled study was performed. Seventeen children with VWS and 68 matched controls with NSCLP were scored for the presence of wound complications after cleft repair, for the severity of complications, and for number of surgeries from age 0 to 10. Of the 17 children with VWS, 8 had wound complications. Of 68 controls, 13 had wound complications (P = 0.02). Of 8 wound complications in the VWS group, 6 were major, whereas of 13 complications in the control group, 9 were major (P = 0.04). Most wound complications were fistulae and occurred in isolated cleft palate and bilateral cleft lip. The mean number of surgeries in the VWS group was 3.0 compared with 2.8 in the control group (P = 0.67). Our studies suggest that children with VWS have an increased risk for wound complications after cleft repair compared with children with NSCLP. Furthermore, these data support a role for IRF6 in wound healing. PMID:20856020

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

    SciTech Connect

    Wyszynski, D.F. |; Lewanda, A.F. |; Beaty, T.H.

    1996-12-30

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

  20. Congenital isolated cleft mitral valve leaflet and apical muscular ventricular septal defect in a Holstein calf.

    PubMed

    Depenbrock, Sarah M; Visser, Lance C; Kohnken, Rebecca A; Russell, Duncan S; Simpson, Katharine M; Bonagura, John D

    2015-09-01

    A 5-week-old Holstein heifer calf presented for emergency treatment of signs referable to gastrointestinal disease and hypovolemic shock. Fluid resuscitation uncovered clinical signs of primary cardiac disease and echocardiography revealed multiple congenital cardiac defects. Malformations included a cleft anterior mitral valve leaflet resembling an isolated cleft mitral valve and an apically-located muscular ventricular septal defect. The echocardiographic and postmortem findings associated with these defects are presented and discussed in this report.

  1. Unusual foreign body in the nasal cavity of an adult with repaired cleft lip and palate.

    PubMed

    Ravikumar, Nagabhairava; GunaShekhar, M; Prasad, S Raghavendra; Lalitha, N; Raju, P Ramanjaneya; Natesh, Y A

    2015-03-01

    Intranasal foreign bodies arising from dental clinical practice, especially in patients with cleft lip and palate (CLP) occur rarely and are very scarce in the literature. This article reports an unusual case of a dental impression material presenting as a foreign body in the nasal cavity of an adult with repaired CLP who presented for dental prosthetic rehabilitation. To our knowledge, this is only the second report presenting nasal foreign body in a cleft patient arising due to a dental impression procedure.

  2. Prosthetic rehabilitation of a patient with a unilateral cleft palate: a clinical report.

    PubMed

    Balkaya, Mehmet Cudi; Sultan, Huseyin; Erdem, Seda; Mutlu, Deniz

    2014-04-01

    Cleft palate is a congenital disorder characterized by maxillary growth defect and dental anomalies. Its correction requires an interdisciplinary approach, which includes surgical, orthodontic, and prosthetic treatments. This clinical report describes the prosthetic management of a 19-year-old woman with a unilateral cleft palate defect that had not been closed completely with surgical repair. The deficient maxillary residual anterior ridge was restored with a tooth-supported overdenture that improved her facial appearance, speech, and masticatory functions. PMID:24388721

  3. The digital eczema centre utrecht.

    PubMed

    van Os-Medendorp, Harmieke; van Veelen, Carien; Hover, Maaike; Eland-de Kok, Petra; Bruijnzeel-Koomen, Carla; Sonnevelt, Gert-Jan; Mensing, Geert; Pasmans, Suzanne

    2010-01-01

    The University Medical Centre Utrecht (UMC Utrecht) has developed an eczema portal that combines e-consulting, monitoring and self-management training by a dermatology nurse online for patients and parents of young children with atopic dermatitis (AD). Patient satisfaction with the portal was high. It could be extended to become a Digital Eczema Centre for multidisciplinary collaboration between health-care providers from different locations and the patient. Before starting the construction of the Digital Eczema Centre, the feasibility was examined by carrying out a business case analysis. The purposes, strength and weaknesses showed that the Digital Eczema Centre offered opportunities to improve care for patients with AD. The financial analysis resulted in a medium/best case scenario with a positive result of euro50-240,000 over a period of five years. We expect that the Digital Eczema Centre will increase the accessibility and quality of care. The web-based patient record and the digital chain-of-care promote the involvement of patients, parents and multidisciplinary teams as well as the continuity and coordination of care.

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

    PubMed

    Leslie, Elizabeth J; Liu, Huan; Carlson, Jenna C; Shaffer, John R; Feingold, Eleanor; Wehby, George; Laurie, Cecelia A; Jain, Deepti; Laurie, Cathy C; Doheny, Kimberly F; McHenry, Toby; Resick, Judith; Sanchez, Carla; Jacobs, Jennifer; Emanuele, Beth; Vieira, Alexandre R; Neiswanger, Katherine; Standley, Jennifer; Czeizel, Andrew E; Deleyiannis, Frederic; Christensen, Kaare; Munger, Ronald G; Lie, Rolv T; Wilcox, Allen; Romitti, Paul A; Field, L Leigh; Padilla, Carmencita D; Cutiongco-de la Paz, Eva Maria C; Lidral, Andrew C; Valencia-Ramirez, Luz Consuelo; Lopez-Palacio, Ana Maria; Valencia, Dora Rivera; Arcos-Burgos, Mauricio; Castilla, Eduardo E; Mereb, Juan C; Poletta, Fernando A; Orioli, Iêda M; Carvalho, Flavia M; Hecht, Jacqueline T; Blanton, Susan H; Buxó, Carmen J; Butali, Azeez; Mossey, Peter A; Adeyemo, Wasiu L; James, Olutayo; Braimah, Ramat O; Aregbesola, Babatunde S; Eshete, Mekonen A; Deribew, Milliard; Koruyucu, Mine; Seymen, Figen; Ma, Lian; de Salamanca, Javier Enríquez; Weinberg, Seth M; Moreno, Lina; Cornell, Robert A; Murray, Jeffrey C; Marazita, Mary L

    2016-04-01

    Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP have been characterized. To identify such risk factors, we performed a genome-wide association study of this disorder. We discovered a genome-wide significant association with a missense variant in GRHL3 (p.Thr454Met [c.1361C>T]; rs41268753; p = 4.08 × 10(-9)) and replicated the result in an independent sample of case and control subjects. In both the discovery and replication samples, rs41268753 conferred increased risk for CP (OR = 8.3, 95% CI 4.1-16.8; OR = 2.16, 95% CI 1.43-3.27, respectively). In luciferase transactivation assays, p.Thr454Met had about one-third of the activity of wild-type GRHL3, and in zebrafish embryos, perturbed periderm development. We conclude that this mutation is an etiologic variant for nonsyndromic CP and is one of few functional variants identified to date for nonsyndromic orofacial clefting. This finding advances our understanding of the genetic basis of craniofacial development and might ultimately lead to improvements in recurrence risk prediction, treatment, and prognosis. PMID:27018472

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

    PubMed

    Leslie, Elizabeth J; Liu, Huan; Carlson, Jenna C; Shaffer, John R; Feingold, Eleanor; Wehby, George; Laurie, Cecelia A; Jain, Deepti; Laurie, Cathy C; Doheny, Kimberly F; McHenry, Toby; Resick, Judith; Sanchez, Carla; Jacobs, Jennifer; Emanuele, Beth; Vieira, Alexandre R; Neiswanger, Katherine; Standley, Jennifer; Czeizel, Andrew E; Deleyiannis, Frederic; Christensen, Kaare; Munger, Ronald G; Lie, Rolv T; Wilcox, Allen; Romitti, Paul A; Field, L Leigh; Padilla, Carmencita D; Cutiongco-de la Paz, Eva Maria C; Lidral, Andrew C; Valencia-Ramirez, Luz Consuelo; Lopez-Palacio, Ana Maria; Valencia, Dora Rivera; Arcos-Burgos, Mauricio; Castilla, Eduardo E; Mereb, Juan C; Poletta, Fernando A; Orioli, Iêda M; Carvalho, Flavia M; Hecht, Jacqueline T; Blanton, Susan H; Buxó, Carmen J; Butali, Azeez; Mossey, Peter A; Adeyemo, Wasiu L; James, Olutayo; Braimah, Ramat O; Aregbesola, Babatunde S; Eshete, Mekonen A; Deribew, Milliard; Koruyucu, Mine; Seymen, Figen; Ma, Lian; de Salamanca, Javier Enríquez; Weinberg, Seth M; Moreno, Lina; Cornell, Robert A; Murray, Jeffrey C; Marazita, Mary L

    2016-04-01

    Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP have been characterized. To identify such risk factors, we performed a genome-wide association study of this disorder. We discovered a genome-wide significant association with a missense variant in GRHL3 (p.Thr454Met [c.1361C>T]; rs41268753; p = 4.08 × 10(-9)) and replicated the result in an independent sample of case and control subjects. In both the discovery and replication samples, rs41268753 conferred increased risk for CP (OR = 8.3, 95% CI 4.1-16.8; OR = 2.16, 95% CI 1.43-3.27, respectively). In luciferase transactivation assays, p.Thr454Met had about one-third of the activity of wild-type GRHL3, and in zebrafish embryos, perturbed periderm development. We conclude that this mutation is an etiologic variant for nonsyndromic CP and is one of few functional variants identified to date for nonsyndromic orofacial clefting. This finding advances our understanding of the genetic basis of craniofacial development and might ultimately lead to improvements in recurrence risk prediction, treatment, and prognosis.

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

    PubMed Central

    Leslie, Elizabeth J.; Liu, Huan; Carlson, Jenna C.; Shaffer, John R.; Feingold, Eleanor; Wehby, George; Laurie, Cecelia A.; Jain, Deepti; Laurie, Cathy C.; Doheny, Kimberly F.; McHenry, Toby; Resick, Judith; Sanchez, Carla; Jacobs, Jennifer; Emanuele, Beth; Vieira, Alexandre R.; Neiswanger, Katherine; Standley, Jennifer; Czeizel, Andrew E.; Deleyiannis, Frederic; Christensen, Kaare; Munger, Ronald G.; Lie, Rolv T.; Wilcox, Allen; Romitti, Paul A.; Field, L. Leigh; Padilla, Carmencita D.; Cutiongco-de la Paz, Eva Maria C.; Lidral, Andrew C.; Valencia-Ramirez, Luz Consuelo; Lopez-Palacio, Ana Maria; Valencia, Dora Rivera; Arcos-Burgos, Mauricio; Castilla, Eduardo E.; Mereb, Juan C.; Poletta, Fernando A.; Orioli, Iêda M.; Carvalho, Flavia M.; Hecht, Jacqueline T.; Blanton, Susan H.; Buxó, Carmen J.; Butali, Azeez; Mossey, Peter A.; Adeyemo, Wasiu L.; James, Olutayo; Braimah, Ramat O.; Aregbesola, Babatunde S.; Eshete, Mekonen A.; Deribew, Milliard; Koruyucu, Mine; Seymen, Figen; Ma, Lian; de Salamanca, Javier Enríquez; Weinberg, Seth M.; Moreno, Lina; Cornell, Robert A.; Murray, Jeffrey C.; Marazita, Mary L.

    2016-01-01

    Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP have been characterized. To identify such risk factors, we performed a genome-wide association study of this disorder. We discovered a genome-wide significant association with a missense variant in GRHL3 (p.Thr454Met [c.1361C>T]; rs41268753; p = 4.08 × 10−9) and replicated the result in an independent sample of case and control subjects. In both the discovery and replication samples, rs41268753 conferred increased risk for CP (OR = 8.3, 95% CI 4.1–16.8; OR = 2.16, 95% CI 1.43–3.27, respectively). In luciferase transactivation assays, p.Thr454Met had about one-third of the activity of wild-type GRHL3, and in zebrafish embryos, perturbed periderm development. We conclude that this mutation is an etiologic variant for nonsyndromic CP and is one of few functional variants identified to date for nonsyndromic orofacial clefting. This finding advances our understanding of the genetic basis of craniofacial development and might ultimately lead to improvements in recurrence risk prediction, treatment, and prognosis. PMID:27018472

  7. Regional Centres for Space Science and Technology Education and ICG Information Centres affiliated to the United Nations

    NASA Astrophysics Data System (ADS)

    Gadimova, S.; Haubold, H. J.

    2009-06-01

    Based on resolutions of the United Nations General Assembly, Regional Centres for Space Science and Technology Education were established in India, Morocco, Nigeria, Brazil and Mexico. Simultaneously, education curricula were developed for the core disciplines of remote sensing, satellite communications, satellite meteorology, and space and atmospheric science. This paper provides a brief summary on the status of the operation of the regional centres with a view to use them as information centres of the International Committee on Global Navigation Satellite Systems (ICG), and draws attention to their educational activities.

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

    PubMed

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

    2015-10-01

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

  9. Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.

    PubMed

    Beaty, T H; Taub, M A; Scott, A F; Murray, J C; Marazita, M L; Schwender, H; Parker, M M; Hetmanski, J B; Balakrishnan, P; Mansilla, M A; Mangold, E; Ludwig, K U; Noethen, M M; Rubini, M; Elcioglu, N; Ruczinski, I

    2013-07-01

    A collection of 1,108 case-parent trios ascertained through an isolated, nonsyndromic cleft lip with or without cleft palate (CL/P) was used to replicate the findings from a genome-wide association study (GWAS) conducted by Beaty et al. (Nat Genet 42:525-529, 2010), where four different genes/regions were identified as influencing risk to CL/P. Tagging SNPs for 33 different genes were genotyped (1,269 SNPs). All four of the genes originally identified as showing genome-wide significance (IRF6, ABCA4 and MAF, plus the 8q24 region) were confirmed in this independent sample of trios (who were primarily of European and Southeast Asian ancestry). In addition, eight genes classified as 'second tier' hits in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2, GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and association in this replication sample. Meta-analysis between the original GWAS trios and these replication trios showed PAX7, COL8A1/FILIP1L and NTN1 achieved genome-wide significance. Tests for gene-environment interaction between these 33 genes and maternal smoking found evidence for interaction with two additional genes: GRID2 and ELAVL2 among European mothers (who had a higher rate of smoking than Asian mothers). Formal tests for gene-gene interaction (epistasis) failed to show evidence of statistical interaction in any simple fashion. This study confirms that many different genes influence risk to CL/P.

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

    SciTech Connect

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

    2008-01-05

    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 {sup 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.

  11. Carbapenem and multidrug resistance in Gram-negative bacteria in a single centre in Italy: considerations on in vitro assay of active drugs.

    PubMed

    Mezzatesta, Maria Lina; Caio, Carla; Gona, Floriana; Cormaci, Roberta; Salerno, Iasmine; Zingali, Tiziana; Denaro, Carmelo; Gennaro, Mauro; Quattrone, Cristiana; Stefani, Stefania

    2014-08-01

    In intensive care units (ICUs), the most important causes of nosocomial bacterial infections are mainly multidrug-resistant (MDR) and extensively drug-resistant (XDR) Acinetobacter baumannii and Klebsiella pneumoniae strains. Mortality related to these infections is very high due to lack of effective therapy and the severity of patient conditions. This study aimed to assess the prevalence of carbapenem resistance genes in 77 carbapenem-resistant Gram-negative bacteria isolated from severe infections (bloodstream, pulmonary and urinary tract) during the period 1 January to 31 July 2013 in a general ICU in Catania, Italy, and to examine their susceptibility to tigecycline and colistin using two different methods. In total, 52 A. baumannii belonging to the same sequence type (ST) 2 clone and carrying the bla(OXA-23) gene as well as 25 K. pneumoniae carrying bla(KPC-3) were isolated. Four distinct pulsotypes were identified in K. pneumoniae, which correlated with four distinct STs: ST258 and ST512, spread worldwide, and ST147 and ST395 detected for the first time in Italy. A. baumannii isolates showed an XDR profile and were fully susceptible only to colistin; all KPC-producing K. pneumoniae isolates were MDR, whilst colistin was active against 19 of 25 strains. These results show that broth microdilution (BMD) is a reliable in vitro susceptibility test for colistin, above all K. pneumoniae, whilst both the gradient test and BMD are suitable for tigecycline susceptibility testing of A. baumannii.

  12. Dental anomalies in children with cleft lip and palate in Western Australia

    PubMed Central

    Nicholls, Wendy

    2016-01-01

    Objective: The purpose of this paper was to describe the prevalence and type of dental anomalies in the primary and permanent dentition in children with a cleft condition at Princess Margaret Hospital in Perth, Western Australia. Materials and Methods: The details of 162 current dental patients extracted from the main dental database through their year of birth for the period 1998–2001 were selected consecutively. Dental records and X-rays were examined by one examiner (WN) and verified by a second examiner (RB) to determine dental development. The mean age of the subjects was 10.8 years with equal numbers of males and females. Subjects were further divided into cleft type; unilateral cleft lip (UCL) and palate, bilateral cleft lip (BCL) and palate, UCL, BCL, and cleft palate. Results: One hundred sixty-two subjects were grouped into 21 categories of anomaly or abnormality. Prevalence rates for the categories were calculated for the overall group and for gender and cleft type. Conclusion: Overall, 94% of patients were found to have at least one dental anomaly, with fifty-six (34%) patients having more than one anomaly or abnormality. PMID:27095907

  13. Bony defect of palate and vomer in submucous cleft palate patients.

    PubMed

    Ren, S; Ma, L; Zhou, X; Sun, Z

    2015-01-01

    The aim of this study was to visualize bony defects of the palate and vomer in submucous cleft palate patients (SMCP) by three-dimensional (3D) computed tomography (CT) reconstruction and to classify the range of bony defects. Forty-eight consecutive non-operated SMCP patients were included. Diagnosis was based on the presence of at least one of three classical signs of SMCP: bifid uvula, a translucent zone in the midline of the soft palate, and a palpable 'V' notch on the posterior border of the bony palate. Patients were imaged using spiral CT. 3D reconstruction models were created of the palate and vomer. The sagittal extent of the bony cleft in SMCP was classified into four types: type I, no V-shaped hard palate cleft (8.3%); type II, cleft involving the partial palate (43.8%); type III, cleft involving the complete palate and extending to the incisive foramen (43.8%); type IV, cleft involving the complete palate and the alveolar bone (4.2%). The extent of the vomer defect was classified into three types: type A, vomer completely fused with the palate (8.3%); type B, vomer partially fused with the palate (43.8%); type C, vomer not fused with the palate up to the incisive foramen (47.9%). Significant variability in hard palate defects in SMCP is the rule rather than the exception. The association of velopharyngeal insufficiency with anatomical malformations may be complex.

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

    SciTech Connect

    Christensen, K.; Holm, N.V.; Kock, K. ); Olsen, J. ); 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.

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

    PubMed

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

    2015-01-01

    Objective :  To compare the cognitive-linguistic processes underlying spelling performance of children with cleft lip and/or palate with those of typically developing children. Design :  An assessment battery including tests of hearing, articulation, verbal short-term and working memory, and phonological awareness, as well as word and nonword spelling, was administered to both groups. Participants :  A total of 15 children with nonsyndromic cleft lip and/or palate were case-matched by age and sex to 15 typically developing children. The children were aged between 6 and 8 years and were bilingual, with English the dominant language. Results :  Wilcoxon signed-rank tests revealed that the performance of children with cleft lip and/or palate was significantly poorer on phoneme deletion and nonword spelling (P < .05) compared with typically developing children. Spearman correlation analyses revealed different relationships between the cognitive-linguistic and spelling measures for the cleft lip and/or palate and typically developing groups. Conclusions :  Children with cleft lip and/or palate underachieve in phonological awareness and spelling skills. To facilitate early intervention for literacy problems, speech-language pathologists should routinely assess the cognitive-linguistic processing of children with cleft lip and/or palate, especially phonological awareness, as part of their case management protocols. PMID:24588579

  16. Ethical issues in the case of surgical repair of cleft palate.

    PubMed

    Berkowitz, S

    1995-07-01

    There are some advantages to prospective randomized clinical trials (PRCT) to resolve some limited clinical problems. But, when this method is used to determine the best surgical procedure to close the palatal cleft space, there are strong ethical considerations that cannot be overcome. There are two basic problems. The first is having the surgeon perform surgical procedures which he/she does not believe is the treatment of choice or that can be performed as skillfully as others, even after demonstrations. Secondly, this method does not consider the theoretical aspect that many clefts within the same cleft type are different in the relative size of cleft space to size of soft tissue available for closing the cleft space, thereby creating different degrees of scarring. Different outcomes to the same surgery must, therefore, result irrespective of the surgeons' skills or treatment plans. Retrospective research studies, whether they involve one or more institutions, have been and are still very valuable in improving the knowledge base of all areas of cleft palate habilitation.

  17. X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts.

    PubMed

    Patel, Poorav J; Beaty, Terri H; Ruczinski, Ingo; Murray, Jeffrey C; Marazita, Mary L; Munger, Ronald G; Hetmanski, Jacqueline B; Wu, Tao; Murray, Tanda; Rose, Margaret; Redett, Richard J; Jin, Sheng C; Lie, Rolv T; Wu-Chou, Yah-Huei; Wang, Hong; Ye, Xiaoqian; Yeow, Vincent; Chong, Samuel; Jee, Sun H; Shi, Bing; Scott, Alan F

    2013-04-01

    As part of an international consortium, case-parent trios were collected for a genome-wide association study of isolated, non-syndromic oral clefts, including cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP). Non-syndromic oral clefts have a complex and heterogeneous etiology. Risk is influenced by genes and environmental factors, and differs markedly by gender. Family-based association tests (FBAT) were used on 14,486 single nucleotide polymorphisms (SNPs) spanning the X chromosome, stratified by type of cleft and racial group. Significant results, even after multiple-comparisons correction, were obtained for the Duchenne muscular dystrophy (DMD) gene, the largest single gene in the human genome, among CL/P (i.e., both CL and CLP combined) trios. When stratified into groups of European and Asian ancestry, stronger signals were obtained for Asian subjects. Although conventional sliding-window haplotype analysis showed no increase in significance, selected combinations of the 25 most significant SNPs in the DMD gene identified four SNPs together that attained genome-wide significance among Asian CL/P trios, raising the possibility of interaction between distant SNPs within the DMD gene. PMID:23489894

  18. Esthetic, Functional, and Everyday Life Assessment of Individuals with Cleft Lip and/or Palate

    PubMed Central

    Papamanou, Despina A.; Karamolegkou, Marina; Dorotheou, Domna

    2015-01-01

    Objectives. To evaluate the level of satisfaction of individuals with cleft lip and/or palate (CLP) and their parents concerning the esthetic and functional treatment outcomes, the impact of the cleft on everyday life, and potential associations with treatment outcome satisfaction. Subjects and Methods. The sample consisted of 33 patients (7 CP, 20 unilateral CLP, and 6 bilateral CLP; median age: 17.1, range: 9.0–33.1 years) and 30 parents, who responded to a questionnaire in an interview-guided session. All participants received their orthodontic treatment at the Department of Orthodontics in the University of Athens. Results. Patients and their parents were quite satisfied with esthetics and function. Patients with UCLP primarily were concerned about nose esthetics (BCLP about lip esthetics and CP about speech). Increased satisfaction was associated with decreased influence of the cleft in everyday life (0.35 < rho < 0.64, P < 0.05). Parents reported significant influence of the cleft on family life, while patients did not. Conclusions. Despite the limited sample size of subgroups, the main concerns of patients with different cleft types and the importance of satisfying lip, nose, and speech outcomes for an undisturbed everyday life were quite evident. Thus, the need for targeted treatment strategies is highlighted for individuals with cleft lip and/or palate. PMID:26064918

  19. Some Models of Mathematics Teachers' Centres.

    ERIC Educational Resources Information Center

    Seiferth, Berniece B.

    There are two types of teacher centres in Great Britain, multi-purpose centres designed for all subjects of the curriculum, and topical centres which deal specifically with one area of subject matter such as mathematics, English, etc. In this paper, the five mathematics centres in London are analyzed for purpose, materials available, and…

  20. Patient‐centred physical therapy is (cost‐) effective in increasing physical activity and reducing frailty in older adults with mobility problems: a randomized controlled trial with 6 months follow‐up

    PubMed Central

    Staal, J Bart; van der Wees, Philip J.; Adang, Eddy M. M.; Akkermans, Reinier; Olde Rikkert, Marcel G. M.; Nijhuis‐van der Sanden, Maria W. G.

    2015-01-01

    Abstract Background Despite the well‐known health benefits of physical activity, it is a great challenge to stay physically active for frail–older adults with mobility limitations. The aim of this study was to test the (cost‐) effectiveness of a patient‐centred physical therapy strategy (Coach2Move) in which individualized treatment (motivational interviewing, physical examination, individualized goal setting, coaching and advice on self management, and physical training) is combined to increase physical activity level and physical fitness and, thereby, to decrease the level of frailty. Methods A randomized controlled trial was performed in 13 physical therapy practices with measurements at 3 and 6 months. Eligible patients were aged 70 years or over and had mobility problems (i.e. difficulties with walking, moving, getting up and changing position from bed or chair to standing, or stair climbing). The primary outcome was physical activity (total and moderate intensity) in minutes per day. Secondary outcomes were as follows: frailty, walking speed and distance, mobility, and quality of life. Data were analysed using linear mixed models for repeated measurements. Healthcare costs and quality‐adjusted life years (QALYs) were computed and combined using net monetary benefit (NMB) for different willingness to pay thresholds. Data on costs, QALYs, and NMBs were analysed using linear mixed models. Results One hundred and thirty patients participated in this study. At 6 months, the between‐group difference was significant for moderate‐intensity physical activity in favour of the Coach2Move group [mean difference: 17.9 min per day; 95% confidence interval (CI) 4.0 to 34.9; P = 0.012]. The between‐group difference for total physical activity was 14.1 min per day (95% CI −6.6 to 34.9; P = 0.182). Frailty decreased more in the Coach2Move group compared with usual care [mean difference: −0.03 (95% CI: −0.06 to −0.00; P = 0