WorldWideScience

Sample records for cleft affected offspring

  1. Maternal genes and facial clefts in offspring

    DEFF Research Database (Denmark)

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

    2010-01-01

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

  2. Recurrence risk for offspring of twins discordant for oral cleft: a population-based cohort study of the Danish 1936-2004 cleft twin cohort

    DEFF Research Database (Denmark)

    Grosen, Dorthe; Bille, Camilla; Pedersen, Jacob Krabbe;

    2010-01-01

    Our objective in this Danish population-based cohort study was to estimate the recurrence risk of isolated oral cleft (OC) for offspring of the unaffected co-twins of OC discordant twin pairs and to compare this risk to the recurrence risk in the offspring of the affected co-twin as well...... as to the risk in the background population. During 1936-2004, 207 twin pairs were ascertained, among whom at least one twin had an OC. The index persons were twins discordant for OC who had children (N=117), and their offspring (N=239). The participants were ascertained by linkage between The Danish Facial...... Cleft Database, The Danish Twin Registry and The Danish Civil Registration System. In the study OC recurrence risk for offspring of the affected and unaffected twin and relative risk were compared to the background prevalence. We found that among 110 children of the 54 OC affected twins, two (1...

  3. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.

    Directory of Open Access Journals (Sweden)

    Astanand Jugessur

    Full Text Available BACKGROUND: Fetal conditions can in principle be affected by the mother's genotype working through the prenatal environment. METHODOLOGY/PRINCIPAL FINDINGS: Genotypes for 1536 SNPs in 357 cleft candidate genes were available from a previous analysis in which we focused on fetal gene effects. After data-cleaning, genotypes for 1315 SNPs in 334 autosomal genes were available for the current analysis of maternal gene effects. Two complementary statistical methods, TRIMM and HAPLIN, were used to detect multi-marker effects in population-based samples from Norway (562 case-parent and 592 control-parent triads and Denmark (235 case-parent triads. We analyzed isolated cleft lip with or without cleft palate (iCL/P and isolated cleft palate only (iCP separately and assessed replication by looking for genes detected in both populations by both methods. In iCL/P, neither TRIMM nor HAPLIN detected more genes than expected by chance alone; furthermore, the selected genes were not replicated across the two methods. In iCP, however, FLNB was identified by both methods in both populations. Although HIC1 and ZNF189 did not fully satisfy our stringency criterion for replication, they were strongly associated with iCP in TRIMM analyses of the Norwegian triads. CONCLUSION/SIGNIFICANCE: Except for FLNB, HIC1 and ZNF189, maternal genes did not appear to influence the risk of clefting in our data. This is consistent with recent epidemiological findings showing no apparent difference between mother-to-offspring and father-to-offspring recurrence of clefts in these two populations. It is likely that fetal genes make the major genetic contribution to clefting risk in these populations, but we cannot rule out the possibility that maternal genes can affect risk through interactions with specific teratogens or fetal genes.

  4. Maternal bereavement in the antenatal period and oral cleft in the offspring

    DEFF Research Database (Denmark)

    Ingstrup, Katja Glejsted; Liang, H.; Olsen, J.;

    2013-01-01

    in the offspring, especially when the bereavement was due to a sudden death or death of a child. WHAT IS KNOWN ALREADY: The aetiology of oral cleft is unknown but includes both genetic and environmental causes. STUDY DESIGN, SIZE AND DURATION: We performed a population-based cohort study based on several national...... to a sudden death, the risk of oral cleft in the offspring was higher (OR: 1.76, 95% CI: 1.06; 2.94). Losing a relative in the time period before pregnancy and during the first trimester showed a tendency to an increased risk. The risk increase was 77% when the mother was bereaved due to sudden death......STUDY QUESTION: Is maternal bereavement (emotional stress) due to loss of a close relative in the antenatal period associated with the risk of oral cleft in the offspring? SUMMARY ANSWER: Our study suggests prenatal maternal bereavement is associated with an increased risk of oral cleft...

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

    NARCIS (Netherlands)

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

    2004-01-01

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

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

    NARCIS (Netherlands)

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

    2004-01-01

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

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

    OpenAIRE

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

    2004-01-01

    Periconceptional folate and folic acid intake prevents orofacial clefts (OFC) in the offspring. It has been suggested that other nutrients also play a role. We investigated the preconceptional intake of macronutrients (protein, fat, carbohydrate, fiber, and cholesterol), vitamins (vitamin A, retinol, ß-carotene, ascorbic acid, and ¿-tocopherol), minerals (calcium, phosphorus, iron, magnesium, and zinc) and food groups in mothers of OFC children and controls. At ~14 mo after the index pregnanc...

  8. A study on the cephalometric similarity between parents and offspring in cleft lip with or without palate

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Su Beom; Lee, Un Gyeong; Na, Seung Mog; Koh, Kwang Joon [Dept. of Oral and Maxillofacial Radiology, College of Dentistry, Chonbuk National University, Chonju (Korea, Republic of)

    1994-08-15

    The purpose of this study was to determine whether any similarity existed in craniofacial morphology between parents and offspring in cleft lip with or without cleft palate. Thirty three measurements of the various regions of cranium and face were obtained from lateral cephalometric radiograms in 28 families comprising 28 fathers, 28 mothers and 28 cleft patients. The measurements of cleft patients compared with those of their fathers, mothers and midparents. The obtained results were as follows: 1. There were similar measurements between the cleft patients and their fathers; ramal height (Ar-Go), mandibular angle (angle MP-RP). 2. There were similar measurements between the cleft patients and their mothers; cranial base angle (angle NSBa), relation of maxilla to the cranial base (angle SNA), relation of maxilla to the cranial base(soft tissue: ?BaN{sup S}n), angle of inferior border of mandible (angle SNL-MP) and convexity of nose apex (soft tissue: angle N'PrnPog'). 3. There were similar measurements between the cleft patients and their midparents; ramal height (Ar-Go), cranial base angle (angle NSBa), relation of maxilla to the cranial base (soft tissue: angle BaN{sup S}n), Y axis angle (angle NSGn) and mandibular angle (angle MP-RP). 4. There was no similar measurements between the cleft patients and their fathers and mothers simultaneously

  9. Cleft Lip and Cleft Palate

    Science.gov (United States)

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

  10. Dam and granddam feeding during pregnancy in sheep affects milk supply in offspring and reproductive performance in grand-offspring.

    Science.gov (United States)

    Blair, H T; Jenkinson, C M C; Peterson, S W; Kenyon, P R; van der Linden, D S; Davenport, L C; Mackenzie, D D S; Morris, S T; Firth, E C

    2010-04-01

    In temperate climates, the cost of providing feed is greater in winter than in other seasons, causing ewes to be fed restricted rations during some periods of pregnancy. Epidemiological information indicates that undernutrition of the fetus may affect its health and performance in later life (i.e., fetal programming), and these effects may be passed between generations. The primary focus of the results presented in this paper is to examine the effects of feeding levels during pregnancy on a variety of traits from offspring at the fetal stage to 3.5 yr of age and also traits in the grand-offspring. Two studies are reported in which ewes were fed restricted diets during pregnancy, with a variety of fetal traits, offspring traits up to 3.5 yr of age, or grand-offspring traits up to 8 mo of age being measured. Study 2 also considered differences in dam size (heavy vs. light). In study 1, several fetal mammary gland measures indicated that milking ability may be enhanced in offspring from dams fed ad libitum during pregnancy. However, study 2 showed that mammary mass was greater in fetuses from dams fed at maintenance during pregnancy and that contemporaries of these fetuses produced greater protein and lactose yields in their first lactation. In the second lactation, the advantages in protein and lactose yields did not reoccur and ewes from ad libitum-fed dams produced greater fat yield. In study 2, grand-offspring whose granddams were fed at maintenance levels during pregnancy were lighter at birth in both the first and second parturitions than those whose granddams were fed ad libitum during pregnancy. First-parity grand-offspring whose granddams were fed maintenance levels during pregnancy achieved heavier BW by 40 to 50 d of age in the first lactation, which reflected the greater protein and lactose yields; however, no BW differences were present in second-parity lambs at the same age. A smaller proportion of first-parity ewe grand-offspring from heavy granddams

  11. Glutamate neurotransmission is affected in prenatally stressed offspring

    DEFF Research Database (Denmark)

    Adrover, Ezequiela; Pallarés, Maria Eugenia; Baier, Carlos Javier

    2015-01-01

    Previous studies from our laboratory have shown that male adult offspring of stressed mothers exhibited higher levels of ionotropic and metabotropic glutamate receptors than control rats. These offspring also showed long-lasting astroglial hypertrophy and a reduced dendritic arborization with syn...

  12. Maternal dietary B vitamin intake, other than folate, and the association with orofacial cleft in the offspring.

    NARCIS (Netherlands)

    Krapels, I.P.C.; Rooij, I.A.L.M. van; Ocke, M.C.; Cleef, B. van; Kuijpers-Jagtman, A.M.; Steegers-Theunissen, R.P.M.

    2004-01-01

    BACKGROUND: Periconceptional folic acid supplementation is suggested to prevent orofacial clefts (OFCs). Other B vitamins however may be beneficial as well. AIM OF THE STUDY: To investigate the maternal periconceptional dietary intake of thiamine, riboflavin, niacin, pyridoxine and cobalamin in asso

  13. Use of corticosteroids in early pregnancy is not associated with risk of oral clefts and other congenital malformations in offspring

    DEFF Research Database (Denmark)

    Bay Bjørn, Anne-Mette; Ehrenstein, Vera; Hundborg, Heidi Holmager

    2012-01-01

    Corticosteroids are commonly used to treat inflammatory diseases. There is conflicting evidence regarding the association of corticosteroid use in pregnancy and congenital malformations in offspring. We conducted a prevalence study of 83,043 primiparous women who gave birth to a live-born singleton...

  14. Osteopontin, osteocalcin, and osteoprotegerin expression in human tissue affected by cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Smane L.

    2016-01-01

    Full Text Available Cleft lip and palate (CLP is a common congenital anomaly with a complex etiology which has not been elucidated yet. This study investigated whether expression of osteopontin (OPN, osteoprotegerin (OPG, and osteocalcin (OC, which are essential for the normal craniofacial bone remodelling, is not regulated in children with CLP. Alveolar bone tissue samples were obtained from patients with complete bilateral (CB CLP (n = 14 during corrective plastic surgery and unaffected control subjects (n = 9. OPN, OPG, and OC expression was assessed by immunohistochemistry, and data were analyzed with the Mann-Whitney test. OPN expression was observed only sporadically in the alveolar bone of 3 patients, in contrast to the control group (z = −2.962; P < 0.003. The number of OPG-positive bone cells varied from occasional to moderate, in contrast to the control group (z = −2.247; P = 0.025. OC-positive osteocytes were present in moderate to numerous numbers in both patients and controls, with no significant difference between them (z = −1.356; P < 0.175. The prominent expression of OC characteristic for CBCLP affected hard tissue indicates a high potential of bone mineralization. Few OPG-positive osteocytes in the bone tissue implicate the disregulation of osteoclast differentiation, maturation, and activity, but few OPN-containing cells may prove the common disregulation of bone remodelling during cleft morphopathogenesis.

  15. Maternal obesity is a risk factor for orofacial clefts: a meta-analysis.

    Science.gov (United States)

    Blanco, R; Colombo, A; Suazo, J

    2015-10-01

    Orofacial clefts are the most prevalent birth defects that affect craniofacial structures and implicate genetic and environmental factors in their aetiology. Maternal metabolic state and nutrition have been related to these and other structural malformations, and studies of maternal obesity before pregnancy have shown controversial results about its association with the risk of orofacial clefts in their offspring. Our aim was to assess the combined effect of several single studies of maternal obesity on the risk of orofacial clefts using meta-analysis. We searched for these reports in the PubMed database, and selected 8 studies that met our criteria for eligibility. As a result of this analysis, and using maternal normal weight as a reference, we found that maternal obesity does increase the risk of orofacial clefts in their offspring (OR 1.18, 95% CI 1.11 to 1.26). When these clefts are considered separately, maternal obesity is associated with cleft lip with or without cleft palate (OR 1.13, 95% CI 1.04 to 1.23), and with cleft palate alone (OR 1.22, 95% CI 1.09 to 1.35). Our results support the relation between maternal obesity and orofacial clefts, and confirm two previous meta-analyses that considered fewer studies. However, the molecular mechanisms underlying this statistical evidence have not been fully elucidated.

  16. High-fat diet reprograms the epigenome of rat spermatozoa and transgenerationally affects metabolism of the offspring

    Directory of Open Access Journals (Sweden)

    Thais de Castro Barbosa

    2016-03-01

    Conclusion: Our results provide insight into mechanisms by which HFD transgenerationally reprograms the epigenome of sperm cells, thereby affecting metabolic tissues of offspring throughout two generations.

  17. Autoantibodies to folate receptor alpha during early pregnancy and risk of oral clefts in Denmark

    DEFF Research Database (Denmark)

    Bille, Camilla; Pedersen, Dorthe Almind; Andersen, Anne-Marie Nybo;

    2010-01-01

    The objective of this study was to determine whether IgG and IgM autoantibodies to folate receptor alpha (FRalpha) in pregnant women are associated with an increased risk of oral cleft-affected offspring. A case-control study nested in the prospective Danish National Birth Cohort (100,418 pregnan......The objective of this study was to determine whether IgG and IgM autoantibodies to folate receptor alpha (FRalpha) in pregnant women are associated with an increased risk of oral cleft-affected offspring. A case-control study nested in the prospective Danish National Birth Cohort (100.......04). Blocking of folate binding to FR was similar among cases and controls (p = 0.54). The results did not change when stratifying into the cleft subgroups, nor when only isolated oral cleft cases were considered. In conclusion, high maternal autoantibody levels and blocking of folate binding to FRalpha...

  18. Sperm variation within a single ejaculate affects offspring development in Atlantic salmon

    Science.gov (United States)

    Immler, Simone; Hotzy, Cosima; Alavioon, Ghazal; Petersson, Erik; Arnqvist, Göran

    2014-01-01

    It is generally believed that variation in sperm phenotype within a single ejaculate has no consequences for offspring performance, because sperm phenotypes are thought not to reflect sperm genotypes. We show that variation in individual sperm function within an ejaculate affects the performance of the resulting offspring in the Atlantic salmon Salmo salar. We experimentally manipulated the time between sperm activation and fertilization in order to select for sperm cohorts differing in longevity within single ejaculates of wild caught male salmon. We found that within-ejaculate variation in sperm longevity significantly affected offspring development and hence time until hatching. Whether these effects have a genetic or epigenetic basis needs to be further evaluated. However, our results provide experimental evidence for transgenerational effects of individual sperm function. PMID:24522632

  19. Does the interaction between maternal folate intake and the methylenetetrahydrofolate reductase polymorphisms affect the risk of cleft lip with or without cleft palate?

    NARCIS (Netherlands)

    van Rooij, IALM; Vermeij-Keers, C; Kluijtmans, LAJ; Ocke, MC; Zielhuis, GA; Goorhuis-Brouwer, SM; van der Biezen, JJ; Kuijpers-Jagtman, AM; Steegers-Theunissen, RPM

    2003-01-01

    Periconceptional folic acid supplementation may reduce the risk of cleft lip with or without cleft palate (CL(P)). Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene reduce availability of 5-methyltetrahydrofolate, the predominant circulating form of folate. To determine the effec

  20. Fertilisation is not a new beginning: sperm environment affects offspring developmental success.

    Science.gov (United States)

    Ritchie, Hannah; Marshall, Dustin J

    2013-08-15

    For organisms with complex life histories, the direction and magnitude of phenotypic links among life-history stages can have important ecological and evolutionary effects. While the phenotypic links between mothers and offspring, as well as between larvae and adults, are well recognised, the links between sperm phenotype and offspring phenotype have been less well explored. Here, we used a split-clutch/split-ejaculate design to examine whether the environment that sperm experience affects the subsequent performance of larvae in the broadcast spawning marine invertebrate Galeolaria gemineoa. The environment that sperm experienced affected the developmental success of larvae sired by these sperm; larvae sired by sperm that experienced low salinities had poorer developmental success than larvae sired by sperm that experienced a normal salinity. When we explored the interactive effects of the sperm environment and the larval environment with an orthogonal design, we found an interaction; when sperm and larvae experienced the same environment, performance was generally higher than when the sperm and larval environments differed. These effects could be due to selection on specific sperm phenotypes, phenotypic modification of the sperm or both. Together, our results challenge the traditional notion that sperm are merely transporters of genetic material; instead, significant covariance between sperm and offspring phenotypes exists. Our study adds to a growing list that demonstrates that fertilisation does have a homogenising effect on the phenotype of the zygote, and that events before fertilisation during the gamete phase can carry through to affect performance in later life-history stages.

  1. Handling missing data in transmission disequilibrium test in nuclear families with one affected offspring.

    Science.gov (United States)

    Bourget, Gulhan

    2012-01-01

    The Transmission Disequilibrium Test (TDT) compares frequencies of transmission of two alleles from heterozygote parents to an affected offspring. This test requires all genotypes to be known from all members of the nuclear families. However, obtaining all genotypes in a study might not be possible for some families, in which case, a data set results in missing genotypes. There are many techniques of handling missing genotypes in parents but only a few in offspring. The robust TDT (rTDT) is one of the methods that handles missing genotypes for all members of nuclear families [with one affected offspring]. Even though all family members can be imputed, the rTDT is a conservative test with low power. We propose a new method, Mendelian Inheritance TDT (MITDT-ONE), that controls type I error and has high power. The MITDT-ONE uses Mendelian Inheritance properties, and takes population frequencies of the disease allele and marker allele into account in the rTDT method. One of the advantages of using the MITDT-ONE is that the MITDT-ONE can identify additional significant genes that are not found by the rTDT. We demonstrate the performances of both tests along with Sib-TDT (S-TDT) in Monte Carlo simulation studies. Moreover, we apply our method to the type 1 diabetes data from the Warren families in the United Kingdom to identify significant genes that are related to type 1 diabetes.

  2. Handling missing data in transmission disequilibrium test in nuclear families with one affected offspring.

    Directory of Open Access Journals (Sweden)

    Gulhan Bourget

    Full Text Available The Transmission Disequilibrium Test (TDT compares frequencies of transmission of two alleles from heterozygote parents to an affected offspring. This test requires all genotypes to be known from all members of the nuclear families. However, obtaining all genotypes in a study might not be possible for some families, in which case, a data set results in missing genotypes. There are many techniques of handling missing genotypes in parents but only a few in offspring. The robust TDT (rTDT is one of the methods that handles missing genotypes for all members of nuclear families [with one affected offspring]. Even though all family members can be imputed, the rTDT is a conservative test with low power. We propose a new method, Mendelian Inheritance TDT (MITDT-ONE, that controls type I error and has high power. The MITDT-ONE uses Mendelian Inheritance properties, and takes population frequencies of the disease allele and marker allele into account in the rTDT method. One of the advantages of using the MITDT-ONE is that the MITDT-ONE can identify additional significant genes that are not found by the rTDT. We demonstrate the performances of both tests along with Sib-TDT (S-TDT in Monte Carlo simulation studies. Moreover, we apply our method to the type 1 diabetes data from the Warren families in the United Kingdom to identify significant genes that are related to type 1 diabetes.

  3. Maternal intraguild predation risk affects offspring anti-predator behavior and learning in mites.

    Science.gov (United States)

    Seiter, Michael; Schausberger, Peter

    2015-10-09

    Predation risk is a strong selective force shaping prey morphology, life history and behavior. Anti-predator behaviors may be innate, learned or both but little is known about the transgenerational behavioral effects of maternally experienced predation risk. We examined intraguild predation (IGP) risk-induced maternal effects on offspring anti-predator behavior, including learning, in the predatory mite Phytoseiulus persimilis. We exposed predatory mite mothers during egg production to presence or absence of the IG predator Amblyseius andersoni and assessed whether maternal stress affects the anti-predator behavior, including larval learning ability, of their offspring as protonymphs. Protonymphs emerging from stressed or unstressed mothers, and having experienced IGP risk as larvae or not, were subjected to choice situations with and without IG predator traces. Predator-experienced protonymphs from stressed mothers were the least active and acted the boldest in site choice towards predator cues. We argue that the attenuated response of the protonymphs to predator traces alone represents optimized risk management because no immediate risk existed. Such behavioral adjustment could reduce the inherent fitness costs of anti-predator behaviors. Overall, our study suggests that P. persimilis mothers experiencing IGP risk may prime their offspring to behave more optimally in IGP environments.

  4. Why does offspring size affect performance? Integrating metabolic scaling with life-history theory.

    Science.gov (United States)

    Pettersen, Amanda K; White, Craig R; Marshall, Dustin J

    2015-11-22

    Within species, larger offspring typically outperform smaller offspring. While the relationship between offspring size and performance is ubiquitous, the cause of this relationship remains elusive. By linking metabolic and life-history theory, we provide a general explanation for why larger offspring perform better than smaller offspring. Using high-throughput respirometry arrays, we link metabolic rate to offspring size in two species of marine bryozoan. We found that metabolism scales allometrically with offspring size in both species: while larger offspring use absolutely more energy than smaller offspring, larger offspring use proportionally less of their maternally derived energy throughout the dependent, non-feeding phase. The increased metabolic efficiency of larger offspring while dependent on maternal investment may explain offspring size effects-larger offspring reach nutritional independence (feed for themselves) with a higher proportion of energy relative to structure than smaller offspring. These findings offer a potentially universal explanation for why larger offspring tend to perform better than smaller offspring but studies on other taxa are needed.

  5. Maternal protein restriction affects gene expression and enzyme activity of intestinal disaccharidases in adult rat offspring.

    Science.gov (United States)

    Pinheiro, D F; Pacheco, P D G; Alvarenga, P V; Buratini, J; Castilho, A C S; Lima, P F; Sartori, D R S; Vicentini-Paulino, M L M

    2013-03-01

    This study investigated the consequences of intrauterine protein restriction on the gastrointestinal tract and particularly on the gene expression and activity of intestinal disaccharidases in the adult offspring. Wistar rat dams were fed isocaloric diets containing 6% protein (restricted, n = 8) or 17% protein (control, n = 8) throughout gestation. Male offspring (n = 5-8 in each group) were evaluated at 3 or 16 weeks of age. Maternal protein restriction during pregnancy produced offspring with growth restriction from birth (5.7 ± 0.1 vs 6.3 ± 0.1 g; mean ± SE) to weaning (42.4 ± 1.3 vs 49.1 ± 1.6 g), although at 16 weeks of age their body weight was similar to control (421.7 ± 8.9 and 428.5 ± 8.5 g). Maternal protein restriction also increased lactase activity in the proximal (0.23 ± 0.02 vs 0.15 ± 0.02), medial (0.30 ± 0.06 vs 0.14 ± 0.01) and distal (0.43 ± 0.07 vs 0.07 ± 0.02 U·g-1·min-1) small intestine, and mRNA lactase abundance in the proximal intestine (7.96 ± 1.11 vs 2.38 ± 0.47 relative units) of 3-week-old offspring rats. In addition, maternal protein restriction increased sucrase activity (1.20 ± 0.02 vs 0.91 ± 0.02 U·g-1·min-1) and sucrase mRNA abundance (4.48 ± 0.51 vs 1.95 ± 0.17 relative units) in the duodenum of 16-week-old rats. In conclusion, the present study shows for the first time that intrauterine protein restriction affects gene expression of intestinal enzymes in offspring.

  6. Maternal protein restriction affects gene expression and enzyme activity of intestinal disaccharidases in adult rat offspring

    Energy Technology Data Exchange (ETDEWEB)

    Pinheiro, D.F.; Pacheco, P.D.G.; Alvarenga, P.V.; Buratini, J. Jr; Castilho, A.C.S.; Lima, P.F.; Sartori, D.R.S.; Vicentini-Paulino, M.L.M. [Departamento de Fisiologia, Instituto de Biociências, Universidade Estadual Paulista, Botucatu, SP (Brazil)

    2013-03-15

    This study investigated the consequences of intrauterine protein restriction on the gastrointestinal tract and particularly on the gene expression and activity of intestinal disaccharidases in the adult offspring. Wistar rat dams were fed isocaloric diets containing 6% protein (restricted, n = 8) or 17% protein (control, n = 8) throughout gestation. Male offspring (n = 5-8 in each group) were evaluated at 3 or 16 weeks of age. Maternal protein restriction during pregnancy produced offspring with growth restriction from birth (5.7 ± 0.1 vs 6.3 ± 0.1 g; mean ± SE) to weaning (42.4 ± 1.3 vs 49.1 ± 1.6 g), although at 16 weeks of age their body weight was similar to control (421.7 ± 8.9 and 428.5 ± 8.5 g). Maternal protein restriction also increased lactase activity in the proximal (0.23 ± 0.02 vs 0.15 ± 0.02), medial (0.30 ± 0.06 vs 0.14 ± 0.01) and distal (0.43 ± 0.07 vs 0.07 ± 0.02 U·g{sup -1}·min{sup -1}) small intestine, and mRNA lactase abundance in the proximal intestine (7.96 ± 1.11 vs 2.38 ± 0.47 relative units) of 3-week-old offspring rats. In addition, maternal protein restriction increased sucrase activity (1.20 ± 0.02 vs 0.91 ± 0.02 U·g{sup -1}·min{sup -1}) and sucrase mRNA abundance (4.48 ± 0.51 vs 1.95 ± 0.17 relative units) in the duodenum of 16-week-old rats. In conclusion, the present study shows for the first time that intrauterine protein restriction affects gene expression of intestinal enzymes in offspring.

  7. The cleft team social worker.

    Science.gov (United States)

    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. Parental prey selection affects risk-taking behaviour and spatial learning in avian offspring.

    Science.gov (United States)

    Arnold, Kathryn E; Ramsay, Scot L; Donaldson, Christine; Adam, Aileen

    2007-10-22

    Early nutrition shapes life history. Parents should, therefore, provide a diet that will optimize the nutrient intake of their offspring. In a number of passerines, there is an often observed, but unexplained, peak in spider provisioning during chick development. We show that the proportion of spiders in the diet of nestling blue tits, Cyanistes caeruleus, varies significantly with the age of chicks but is unrelated to the timing of breeding or spider availability. Moreover, this parental prey selection supplies nestlings with high levels of taurine particularly at younger ages. This amino acid is known to be both vital and limiting for mammalian development and consequently found in high concentrations in placenta and milk. Based on the known roles of taurine in mammalian brain development and function, we then asked whether by supplying taurine-rich spiders, avian parents influence the stress responsiveness and cognitive function of their offspring. To test this, we provided wild blue tit nestlings with either a taurine supplement or control treatment once daily from the ages of 2-14 days. Then pairs of size- and sex-matched siblings were brought into captivity for behavioural testing. We found that juveniles that had received additional taurine as neonates took significantly greater risks when investigating novel objects than controls. Taurine birds were also more successful at a spatial learning task than controls. Additionally, those individuals that succeeded at a spatial learning task had shown intermediate levels of risk taking. Non-learners were generally very risk-averse controls. Early diet therefore has downstream impacts on behavioural characteristics that could affect fitness via foraging and competitive performance. Fine-scale prey selection is a mechanism by which parents can manipulate the behavioural phenotype of offspring.

  9. Perinatal exposure to perfluorooctane sulfonate affects glucose metabolism in adult offspring.

    Directory of Open Access Journals (Sweden)

    Hin T Wan

    Full Text Available Perfluoroalkyl acids (PFAAs are globally present in the environment and are widely distributed in human populations and wildlife. The chemicals are ubiquitous in human body fluids and have a long serum elimination half-life. The notorious member of PFAAs, perfluorooctane sulfonate (PFOS is prioritized as a global concerning chemical at the Stockholm Convention in 2009, due to its harmful effects in mammals and aquatic organisms. PFOS is known to affect lipid metabolism in adults and was found to be able to cross human placenta. However the effects of in utero exposure to the susceptibility of metabolic disorders in offspring have not yet been elucidated. In this study, pregnant CD-1 mice (F0 were fed with 0, 0.3 or 3 mg PFOS/kg body weight/day in corn oil by oral gavage daily throughout gestational and lactation periods. We investigated the immediate effects of perinatal exposure to PFOS on glucose metabolism in both maternal and offspring after weaning (PND 21. To determine if the perinatal exposure predisposes the risk for metabolic disorder to the offspring, weaned animals without further PFOS exposure, were fed with either standard or high-fat diet until PND 63. Fasting glucose and insulin levels were measured while HOMA-IR index and glucose AUCs were reported. Our data illustrated the first time the effects of the environmental equivalent dose of PFOS exposure on the disturbance of glucose metabolism in F1 pups and F1 adults at PND 21 and 63, respectively. Although the biological effects of PFOS on the elevated levels of fasting serum glucose and insulin levels were observed in both pups and adults of F1, the phenotypes of insulin resistance and glucose intolerance were only evident in the F1 adults. The effects were exacerbated under HFD, highlighting the synergistic action at postnatal growth on the development of metabolic disorders.

  10. Serological profile of offspring on an intensive pig farm affected byPorcine reproductive andrespiratory syndrome

    Institute of Scientific and Technical Information of China (English)

    SilvaJ; RochaD; CunhaI; RuiSalesL; NetoF; FontesMC; Simes J

    2015-01-01

    Objective:To evaluate/predict the offspring serum profile of antibodies against Porcine reproductive and respiratory syndrome virus (PRRSV) in an affected intensive herd, whereas sows are vaccinated, and determine the better sample time using pigs as sentinels. Methods:Serum samples were collected from a total of 66 offspring pigs from a PRRSV endemic herd, whereas only sows were vaccinated. Six animals per grouped age were randomly selected with 0 (at perinatal time), 1, 2, 3, 6, 9, 12, 15, 18, 21 and 24 weeks of age. Individual and three pooled samples were tested by ELISA and PCR, respectively.Results: The proportion of seropositive animals was 75.0% (18/24), 33.3% (6/18) and 95.8% (23/24) at farrowing (0 to 3 weeks), nursery (6 to 12 weeks) and growing/finishing (15 to 24 weeks) phases, respectively. It was 46 times more likely (P<0.01) to observe seropositive pigs on the growing/finishing than on nursery phase. European PRSSV strain was detected on serum of 6, 9 and 15-weeks old pigs. Polynomial fit degree 4 regression between sample-to-positive (S/P) ratios and age of pigs(r=0.78; R2= 0.60;P<0.001) estimated a quickly decrease of maternal antibodies, above 0.4 S/P value (cut off), until the 6th week following by a progressive increment of humoral immunity until 21st week of age, when it declines.Conclusions:The results indicate that the piglets can present viremia early at nursery, and the 18th – 21st weeks are the best time to sample offspring pigs, as sentinel, from PRRSV contaminated intensive herds.

  11. Transplacental and early life exposure to inorganic arsenic affected development and behavior in offspring rats

    Energy Technology Data Exchange (ETDEWEB)

    Xi, Shuhua; Jin, Yaping; Sun, Guifan [China Medical University, Department of Environmental and Occupational Health, College of Public Health, Shenyang, Liaoning (China); Sun, Wenjuan; Wang, Fengzhi [Shenyang Medical College, Department of Preventive Medicine, Shenyang, Liaoning (China)

    2009-06-15

    To evaluate the developmental neurotoxicity of arsenic in offspring rats by transplacental and early life exposure to sodium arsenite in drinking water, the pregnant rats or lactating dams, and weaned pups were given free access to drinking water, which contained arsenic at concentrations of 0, 10, 50, 100 mg/L from GD 6 until PND 42. A battery of physical and behavioral tests was applied to evaluate the functional outcome of pups. Pups in arsenic exposed groups weighed less than controls throughout lactation and weaning. Body weight of 10, 50 and 100 mg/L arsenic exposed groups decreased significantly on PND 42, 16 and 12, respectively. Physical development (pinna unfolding, fur appearance, incisor eruption, or eye opening) in pups displayed no significant differences between control and arsenic treated groups. The number of incidences within the 100 mg/L arsenic treated group, in tail hung, auditory startle and visual placing showed significant decrease compared to the control group (p<0.05). In square water maze test, the trained numbers to finish the trials successfully in 50 and 100 mg/L arsenic exposed groups increased remarkably compared to control group, and there was a dose-related increase (p<0.01) observed. Taken together, these data show that exposure of inorganic arsenite to pregnant dams and offspring pups at levels up to 100 mg/L in drinking water may affect their learning and memory functions and neuromotor reflex. (orig.)

  12. Tail loss affects fecundity but not offspring traits in the Chinese skink Eumeces chinensis

    Institute of Scientific and Technical Information of China (English)

    Hongliang LU; Jianfang GAO; Xiaohao MA; Zhihua LIN; Xiang JI

    2012-01-01

    We used the Chinese skink Eumeces chinensis as a model animal to study the effects of tail loss on reproductive investment and offspring traits.A total of 147 wild-captured adult females were divided into four groups according to their tail conditions.Tail breaks occurred most frequently in the proximal portion of the tail and least frequently in the distal portion,with the middle portion in between.This finding suggests that tail breaks occurring in nature often entails substantial energetic costs in E.chinensis where the tail is a major site of energy storage.The proportion of females that laid eggs was higher in females with intact or completely regenerated tails than in those with broken tails.Following whole-tail autotomy,the clutch size was reduced by 17%,and the clutch mass was reduced by 14%.Females undergoing substantial tail autotomy reduced reproductive investment,and they did so by reducing the number but not the size of eggs produced.None of the egg and hatchling traits was affected by tail loss.Comparing our data with those reported for other oviparous and viviparous skinks allows us to draw two general conclusions:one is that fecundity (clutch or litter size) is affected by tail loss in all species so far studied,whereas offspring size is affected by tail loss in some species,but not in others; the other is that the reduction in fecundity following tail loss is more evident in species lacking abdominal fat bodies [Current Zoology 58 (2):228-235,2012].

  13. Tail loss affects fecundity but not offspring traits in the Chinese skink Eumeces chinensis

    Directory of Open Access Journals (Sweden)

    Hongliang LU, Jianfang GAO, Xiaohao MA, Zhihua LIN, Xiang JI

    2012-04-01

    Full Text Available We used the Chinese skink Eumeces chinensis as a model animal to study the effects of tail loss on reproductive investment and offspring traits. A total of 147 wild-captured adult females were divided into four groups according to their tail conditions. Tail breaks occurred most frequently in the proximal portion of the tail and least frequently in the distal portion, with the middle portion in between. This finding suggests that tail breaks occurring in nature often entails substantial energetic costs in E. chinensis where the tail is a major site of energy storage. The proportion of females that laid eggs was higher in females with intact or completely regenerated tails than in those with broken tails. Following whole-tail autotomy, the clutch size was reduced by 17%, and the clutch mass was reduced by 14%. Females undergoing substantial tail autotomy reduced reproductive investment, and they did so by reducing the number but not the size of eggs produced. None of the egg and hatchling traits was affected by tail loss. Comparing our data with those reported for other oviparous and viviparous skinks allows us to draw two general conclusions: one is that fecundity (clutch or litter size is affected by tail loss in all species so far studied, whereas offspring size is affected by tail loss in some species, but not in others; the other is that the reduction in fecundity following tail loss is more evident in species lacking abdominal fat bodies [Current Zoology 58 (2: 228-235, 2012].

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

    Science.gov (United States)

    ... Volunteer Efforts Dental Care for a Child with Cleft Lip and Palate skip to submenu Parents & Individuals Information for Parents & ... version of this factsheet, click here How does cleft lip/palate affect the teeth? A cleft of the lip, ...

  15. Epigenetics: Behavioral Influences on Gene Function, Part I: Maternal Behavior Permanently Affects Adult Behavior in Offspring

    Science.gov (United States)

    Ogren, Marilee P.; Lombroso, Paul J.

    2008-01-01

    The article highlights the field of epigenetics and its relevance in determining the effects of maternal nurturing on behavioral patterns in offsprings. Results concluded that maternal behavior influences the offspring's behavior to stress in adulthood and the effects are transgenerational through epigenetic mechanisms.

  16. Cleft Lip and Palate

    Science.gov (United States)

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

  17. High-fat diet reprograms the epigenome of rat spermatozoa and transgenerationally affects metabolism of the offspring

    DEFF Research Database (Denmark)

    de Castro Barbosa, Thais; Ingerslev, Lars R; Alm, Petter S

    2016-01-01

    OBJECTIVES: Chronic and high consumption of fat constitutes an environmental stress that leads to metabolic diseases. We hypothesized that high-fat diet (HFD) transgenerationally remodels the epigenome of spermatozoa and metabolism of the offspring. METHODS: F0-male rats fed either HFD or chow di...... into mechanisms by which HFD transgenerationally reprograms the epigenome of sperm cells, thereby affecting metabolic tissues of offspring throughout two generations....... and pancreatic beta-cell mass. Adult female, but not male, offspring of HFD-fed fathers were glucose intolerant and resistant to HFD-induced weight gain. This phenotype was perpetuated in the F2 progeny, indicating transgenerational epigenetic inheritance. The epigenome of spermatozoa from HFD-fed F0 and their F......1 male offspring showed common DNA methylation and small non-coding RNA expression signatures. Altered expression of sperm miRNA let-7c was passed down to metabolic tissues of the offspring, inducing a transcriptomic shift of the let-7c predicted targets. CONCLUSION: Our results provide insight...

  18. Maternal immune activation affects litter success, size and neuroendocrine responses related to behavior in adult offspring.

    Science.gov (United States)

    French, Susannah S; Chester, Emily M; Demas, Gregory E

    2013-07-02

    It is increasingly evident that influences other than genetics can contribute to offspring phenotype. In particular, maternal influences are an important contributing factor to offspring survival, development, physiology and behavior. Common environmental pathogens such as viral or bacterial microorganisms can induce maternal immune responses, which have the potential to alter the prenatal environment via multiple independent pathways. The effects of maternal immune activation on endocrine responses and behavior are less well studied and provide the basis for the current study. Our approach in the current study was two-pronged: 1) quantify sickness responses during pregnancy in adult female hamsters experiencing varying severity of immune responsiveness (i.e., differing doses of lipopolysaccharide [LPS]), and 2) assess the effects of maternal immune activation on offspring development, immunocompetence, hormone profiles, and social behavior during adulthood. Pregnancy success decreased with increasing doses of LPS, and litter size was reduced in LPS dams that managed to successfully reproduce. Unexpectedly, pregnant females treated with LPS showed a hypothermic response in addition to the more typical anorexic and body mass changes associated with sickness. Significant endocrine changes related to behavior were observed in the offspring of LPS-treated dams; these effects were apparent in adulthood. Specifically, offspring from LPS treated dams showed significantly greater cortisol responses to stressful resident-intruder encounters compared with offspring from control dams. Post-behavior cortisol was elevated in male LPS offspring relative to the offspring of control dams, and was positively correlated with the frequency of bites during agonistic interactions, and cortisol levels in both sexes were related to defensive behaviors, suggesting that changes in hypothalamo-pituitary-adrenal axis responsiveness may play a regulatory role in the observed behavioral

  19. Psychological issues in cleft lip and cleft palate

    Directory of Open Access Journals (Sweden)

    Sousa Avinash

    2009-01-01

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

  20. Serological profile of offspring on an intensive pig farm affected by porcine reproductive and respiratory syndrome

    Directory of Open Access Journals (Sweden)

    J. Silva

    2015-12-01

    Conclusions: The results indicate that the piglets can present viremia early at nursery, and the 18th – 21st weeks are the best time to sample offspring pigs, as sentinel, from PRRSV contaminated intensive herds.

  1. SURGICAL METHODS OF CLEFT LIP, CLEFT PALATE AND COMBINED CLEFT LIP WITH CLEFT PALATE - OUR EXPERIENCE

    OpenAIRE

    Polisetti Ravi; Durga Prasad; Soumya; Krishna Sasanka

    2015-01-01

    INTRODUCTION Cleft lip and cleft palate is the most common congenital malformation of the face and its pattern varies with geography world wide. This study was done in 67 patients presenting to Department of ENT, Santhiram Medical College, Nandyal with cleft deformities to assess the surgical outcome of cleft lip, cleft palate and combined cleft lip cleft palate cases.

  2. Postnatal treatment factors affecting craniofacial morphology of unilateral cleft lip and palate (UCLP) patients in a Japanese population.

    Science.gov (United States)

    Alam, M K; Iida, J; Sato, Y; Kajii, Takashi S

    2013-12-01

    We have evaluated the craniofacial morphology of Japanese patients with unilateral cleft lip and palate (UCLP) and assessed the various postnatal factors that affect it. Lateral cephalograms of 140 subjects (mean (SD) aged 7 (2) years) with UCLP were taken before orthodontic treatment. Surgeons from Hokkaido University Hospital had done the primary operations. The craniofacial morphology was assessed by angular and linear cephalometric measurements. Cheiloplasty, palatoplasty, and preoperative orthopaedic treatment were chosen as postnatal factors. To compare the assessments of the postnatal factors, we made angular and linear cephalometric measurements for each subject and converted them into Z scores in relation to the mean (SD) of the two variables. Subjects treated by the modified Millard cheiloplasty had larger sella-nasion-point A (SNA) and nasion-point A-pogonion (NA-POG) measurements than subjects treated by the modified Millard with a vomer flap cheiloplasty. Two-stage palatoplasty showed consistently better craniofacial morphology than the other palatoplasty. Subjects who had preoperative orthopaedic treatment with a Hotz plate had significantly larger upper incisor/sella-nasion (U1-SN) measurements than who had no preoperative orthopaedic treatment or an active plate. We conclude that in subjects treated by a modified Millard type of cheiloplasty, a two-stage palatoplasty, and a Hotz plate there were fewer adverse effects on craniofacial morphology.

  3. Risk of Oral Clefts in Twins

    DEFF Research Database (Denmark)

    Grosen, Dorthe; Bille, Camilla; Petersen, Inge

    2011-01-01

    BACKGROUND:: Small studies have indicated that twinning increases the risk of oral cleft. METHODS:: We used data from a Danish national population-based cohort study to investigate whether twinning was associated with isolated oral cleft, and to estimate the twin probandwise concordance rate...... and heritability. Twins (207 affected/130,710) and singletons (7766 affected/4,798,526) born from 1936 through 2004 in Denmark were ascertained by linkage among the Danish Facial Cleft Database, the Danish Twin Registry, and the Civil Registration System. We computed oral cleft prevalence and prevalence proportion...... ratio for twins versus singletons, stratified for 3 subphenotypes. Probandwise concordance rates and heritability for twins were estimated for 2 phenotypes-cleft lip with or without cleft palate (CL/P) and cleft palate (CP). RESULTS:: The prevalence of oral cleft was 15.8 per 10,000 twins and 16.6 per...

  4. Chronic hypoxia in pregnancy affects thymus development in Balb/c mouse offspring via IL2 Signaling.

    Science.gov (United States)

    Zhang, Xiaopeng; Zhou, Xiuwen; Li, Lingjun; Sun, Miao; Gao, Qingqing; Zhang, Pengjie; Tang, Jiaqi; He, Yu; Zhu, Di; Xu, Zhice

    2016-04-01

    Hypoxia during pregnancy can adversely affect development. This study, addressed the impact of prenatal hypoxia on thymus development in the rodent offspring. Pregnant Balb/c mice were exposed to hypoxia or normoxia during pregnancy, and the thymuses of their offspring were tested. Chronic hypoxia during pregnancy resulted in significantly decreased fetal body weight, with an increased thymus-to-body weight ratio. Histological analysis revealed a smaller cortical zone in the thymus of the offspring exposed to hypoxia. A reduction in the cortical T lymphocyte population corresponded to increased mRNA abundance of caspase 3 (Casp3) and decreased expression of the proliferation marker Ki-67 (Mki67). Differences in T lymphocyte sub-populations in the thymus further indicate that thymus development in offspring was retarded or stagnated by prenatal hypoxia. The abundance of IL2 and its receptor was reduced in the thymus following prenatal hypoxia. This was accompanied by an increase in thymus HIF1A and IKKβ and a decrease in phosphorylated NFKB, MAP2K1, and MAPK1/3 compared to control pregnancies. Together, these results implicate deficiencies in IL2-mediated signaling as one source of prenatal-hypoxia-impaired thymus development.

  5. Evaluation of temporomandibular fossa and mandibular condyle in adolescent patients affected by bilateral cleft lip and palate using cone beam computed tomography.

    Science.gov (United States)

    Uçar, Faruk Izzet; Buyuk, Suleyman Kutalmış; Şekerci, Ahmet Ercan; Celikoglu, Mevlut

    2016-11-01

    The purposes of this study were to investigate the position of the mandibular condyle and temporomandibular fossa between the adolescent patients affected by bilateral cleft lip and palate (BCLP) and well-matched controls without any cleft by using cone-beam computed tomography (CBCT). The study sample consisted of 17 patients (7 females and 10 males; mean age, 14.27 ± 2.83 years) affected by BCLP and 17 patients (6 females and 11 males; mean age, 14.27 ± 2.12 years) as age-and sex-matched control group without any cleft. Using cone-beam computed tomography segmented three-dimensional temporomandibular fossa and mandibular condyle images were reconstructed and angular, linear, and volumetric measurements of the patients in both sides of the groups were examined using Paired and Student's t-tests. Comparison of the sides showed that both sides were found to be similar in BCLP and control groups, except the condylar angulation of the right side was found to be higher compared to that of the left side in both groups (p condylar angulation in the right side (BCLP group had less angulation compared to controls; p condylar volume was found to be slightly less in the BCLP group in both sides compared to the controls (p > 0.05). The positions of the mandibular condyle and temporomandibular fossa were found to be similar in patients affected by BCLP and control group of without any cleft. SCANNING 38:720-726, 2016. © 2016 Wiley Periodicals, Inc.

  6. Local offspring density and sex ratio affect sex allocation in the great tit

    NARCIS (Netherlands)

    Michler, Stephanie P. M.; Nicolaus, Marion; van der Velde, Marco; Radersma, Reinder; Ubels, Richard; Both, Christiaan; Komdeur, Jan; Tinbergen, Joost M.

    2013-01-01

    The expected fitness gain for offspring of a given sex may depend on local population sex ratio and density. Knowing the influence of such social factors on brood sex ratios may contribute considerably to the understanding of sex allocation in higher vertebrates. For 3 consecutive years, we manipula

  7. Parental factors affecting the weights of the placenta and the offspring

    NARCIS (Netherlands)

    L'Abee, Carianne; Vrieze, Ingrid; Kluck, Tom; Erwich, Jan Jaap H. M.; Stolk, Ronald P.; Sauer, Pieter J. J.

    2011-01-01

    Aim: To determine parental, especially paternal factors associated with the weight of the placenta and offspring. Methods: This population-based birth-cohort study includes 2947 singleton children born from April 2006 to 2007 and living in Drenthe, The Netherlands. Placental weight and birth weight

  8. Maternal High Fat Diet Affects Offspring's Vitamin K-Dependent Proteins Expression Levels.

    Directory of Open Access Journals (Sweden)

    Stuart Lanham

    Full Text Available Studies suggest bone growth & development and susceptibility to vascular disease in later life are influenced by maternal nutrition, during intrauterine and early postnatal life. There is evidence for a role of vitamin K-dependent proteins (VKDPs including Osteocalcin, Matrix-gla protein, Periostin, and Gas6, in bone and vascular development. This study extends the analysis of VKDPs previously conducted in 6 week old offspring, into offspring of 30 weeks of age, to assess the longer term effects of a maternal and postnatal high fat (HF diet on VKDP expression. Overall a HF maternal diet and offspring diet exacerbated the bone changes observed. Sex specific and tissue specific differences were observed in VKDP expression for both aorta and femoral tissues. In addition, significant correlations were observed between femoral OCN, Periostin Gas6, and Vkor expression levels and measures of femoral bone structure. Furthermore, MGP, OCN, Ggcx and Vkor expression levels correlated to mass and fat volume, in both sexes. In summary the current study has highlighted the importance of the long-term effects of maternal nutrition on offspring bone development and the correlation of VKDPs to bone structure.

  9. Endotoxin Treatment of Pregnant Rats Affects Sexual Behavior of the Male Offspring

    NARCIS (Netherlands)

    Wijkstra, S.; Valkhof, N.; Koolhaas, J.M.; Schuiling, G.A.

    1991-01-01

    The offspring of endotoxin-infused pregnant rats (0.2 µg endotoxin, 53.3 min, day 18 of pregnancy) did not exhibit different behavior in the Hebb-Williams-type maze test, but the males showed aberrations in the sexual behavior test. Because endotoxin did not cross the placental barrier, it was concl

  10. Gestational weight gain by reduced brain melanocortin activity affects offspring energy balance in rats

    NARCIS (Netherlands)

    Heinsbroek, A. C. M.; van Dijk, G.

    2009-01-01

    Introduction: Excessive gestational body weight gain of mothers may predispose offspring towards obesity and metabolic derangements. It is difficult to discern the effects of maternal obesogenic factors-such as diet and/or thrifty genetic predisposition-from gestational weight gain per se. Methods:

  11. An assessment of orofacial clefts in Tanzania

    Directory of Open Access Journals (Sweden)

    Mazyala Erick

    2011-02-01

    Full Text Available Abstract Background Clefts of the lip (CL, the palate (CP, or both (CLP are the most common orofacial congenital malformations found among live births, accounting for 65% of all head and neck anomalies. The frequency and pattern of orofacial clefts in different parts of the world and among different human groups varies widely. Generally, populations of Asian or Native American origin have the highest prevalence, while Caucasian populations show intermediate prevalence and African populations the lowest. To date, little is known regarding the epidemiology and pattern of orofacial clefts in Tanzania. Methods A retrospective descriptive study was conducted at Bugando Medical Centre to identify all children with orofacial clefts that attended or were treated during a period of five years. Cleft lip and/or palate records were obtained from patient files in the Hospital's Departments of Surgery, Paediatrics and medical records. Age at presentation, sex, region of origin, type and laterality of the cleft were recorded. In addition, presence of associated congenital anomalies or syndromes was recorded. Results A total of 240 orofacial cleft cases were seen during this period. Isolated cleft lip was the most common cleft type followed closely by cleft lip and palate (CLP. This is a departure from the pattern of clefting reported for Caucasian and Asian populations, where CLP or isolated cleft palate is the most common type. The distribution of clefts by side showed a statistically significant preponderance of the left side (43.7% (χ2 = 92.4, p Conclusions Unilateral orofacial clefts were significantly more common than bilateral clefts; with the left side being the most common affected side. Most of the other findings did not show marked differences with orofacial cleft distributions in other African populations.

  12. Milk matters: offspring survival in Columbian ground squirrels is affected by nutrient composition of mother’s milk

    Directory of Open Access Journals (Sweden)

    Amy eSkibiel

    2015-10-01

    Full Text Available Through maternal effects, information about environmental conditions experienced in the maternal generation can be transmitted to subsequent generations. Although maternal effects have been described and quantified in many mammalian species, the underlying causal links are often under-studied. The close association between mother and neonate during the extended period of lactation in mammals provides a unique opportunity for mothers to influence offspring phenotype through nutrient provisioning of milk. The purpose of this study was to examine sources of inter-individual variation in milk composition and impacts on offspring phenotype and survival. Variation in fat content, protein content, and energy density of mother’s milk was associated with timing of reproduction. Mothers with intermediate birthdates produced milk that was higher in fat and energy density, but lower in protein than females with early or late birthdates. In turn, the pattern of change in milk composition affected juvenile overwinter survival. The protein content of Columbian ground squirrel milk typically increases to peak lactation and then declines before weaning. Pups consuming milk that was lower in protein in early lactation but then relatively high in protein at peak and late lactation had a higher probability of survival overwinter. Our results indicate that the interplay between the timing of reproduction and lactation performance has consequences for maternal and offspring fitness.

  13. Social rank of pregnant sows affects their body weight gain and behavior and performance of the offspring.

    Science.gov (United States)

    Kranendonk, G; Van der Mheen, H; Fillerup, M; Hopster, H

    2007-02-01

    Previous studies on group housing of pregnant sows have mainly focused on reproduction, but we hypothesized that the social rank of pregnant sows housed in groups could also affect birth weight, growth, and behavior of their offspring. Therefore, in the present study, pregnant gilts and sows were housed in 15 different groups (n = 7 to 14 animals per group) from 4 d after AI until 1 wk before the expected farrowing date. All groups were fed by an electronically controlled sow feeding system that registered, on a 24-h basis, the time of first visit, number of feeding and non-feeding visits, and number of times succeeding another sow within 2 s. Only in the first 6 groups (n = 57 animals), agonistic interactions were observed continuously. The percentage of agonistic interactions won was highly correlated (r(s) = 0.90, P 50% (n = 62) and low-social ranking (LSR) sows a DS gestation length, litter size, or percentage of live born piglets. During a novel object (NO) test at 3 wk of age, HSR offspring moved and vocalized more than LSR offspring (P Pig breeders that apply group housing for pregnant sows should pay attention to reducing competition around the feeding area, which may reduce aggression among the sows and minimize differences between HSR and LSR sows.

  14. Risk of emotional disorder in offspring of depressed parents: Gender differences in the effect of a second emotionally affected parent

    NARCIS (Netherlands)

    Landman-Peeters, K.M.C.; Ormel, J.; Van Sonderen, E.L.P.; Den Boer, J.A.; Minderaa, R.B.; Hartman, C.A.

    2008-01-01

    In offspring of depressed parents a second parent with emotional problems is likely to increase risk of emotional disorder. This effect may however differ between sons and daughters and between offspring of depressed fathers and offspring of depressed mothers. In adolescent and young-adult offspring

  15. Risk of emotional disorder in offspring of depressed parents : Gender differences in the effect of a second emotionally affected parent

    NARCIS (Netherlands)

    Landman-Peeters, K.M.; Ormel, J.; van Sonderen, E.L.; den Boer, J.A.; Minderaa, R.B.; Hartman, C.A.

    2008-01-01

    In offspring of depressed parents a second parent with emotional problems is likely to increase risk of emotional disorder. This effect may however differ between sons and daughters and between offspring of depressed fathers and offspring of depressed mothers. In adolescent and young-adult offspring

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

    Science.gov (United States)

    Apel, Laura

    2008-01-01

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

  17. Facts about Cleft Lip and Cleft Palate

    Science.gov (United States)

    ... Information For... Media Policy Makers Facts about Cleft Lip and Cleft Palate Language: English Español (Spanish) Recommend on Facebook ... commonly are called “orofacial clefts”. What is Cleft Lip? The lip forms between the fourth and seventh ...

  18. Maternal postpartum corticosterone and fluoxetine differentially affect adult male and female offspring on anxiety-like behavior, stress reactivity, and hippocampal neurogenesis.

    Science.gov (United States)

    Gobinath, Aarthi R; Workman, Joanna L; Chow, Carmen; Lieblich, Stephanie E; Galea, Liisa A M

    2016-02-01

    Postpartum depression (PPD) affects approximately 15% of mothers, disrupts maternal care, and can represent a form of early life adversity for the developing offspring. Intriguingly, male and female offspring are differentially vulnerable to the effects of PPD. Antidepressants, such as fluoxetine, are commonly prescribed for treating PPD. However, fluoxetine can reach offspring via breast milk, raising serious concerns regarding the long-term consequences of infant exposure to fluoxetine. The goal of this study was to examine the long-term effects of maternal postpartum corticosterone (CORT, a model of postpartum stress/depression) and concurrent maternal postpartum fluoxetine on behavioral, endocrine, and neural measures in adult male and female offspring. Female Sprague-Dawley dams were treated daily with either CORT or oil and fluoxetine or saline from postnatal days 2-23, and offspring were weaned and left undisturbed until adulthood. Here we show that maternal postpartum fluoxetine increased anxiety-like behavior and impaired hypothalamic-pituitary-adrenal (HPA) axis negative feedback in adult male, but not female, offspring. Furthermore, maternal postpartum fluoxetine increased the density of immature neurons (doublecortin-expressing) in the hippocampus of adult male offspring but decreased the density of immature neurons in adult female offspring. Maternal postpartum CORT blunted HPA axis negative feedback in males and tended to increase density of immature neurons in males but decreased it in females. These results indicate that maternal postpartum CORT and fluoxetine can have long-lasting effects on anxiety-like behavior, HPA axis negative feedback, and adult hippocampal neurogenesis and that adult male and female offspring are differentially affected by these maternal manipulations.

  19. Maternal Fructose Intake Affects Transcriptome Changes and Programmed Hypertension in Offspring in Later Life

    Directory of Open Access Journals (Sweden)

    You-Lin Tain

    2016-11-01

    Full Text Available Hypertension originates from early-life insults by so-called “developmental origins of health and disease” (DOHaD. Studies performed in the previous few decades indicate that fructose consumption is associated with an increase in hypertension rate. It is emerging field that tends to unfold the nutrient–gene interactions of maternal high-fructose (HF intake on the offspring which links renal programming to programmed hypertension. Reprogramming interventions counteract disturbed nutrient–gene interactions induced by maternal HF intake and exert protective effects against developmentally programmed hypertension. Here, we review the key themes on the effect of maternal HF consumption on renal transcriptome changes and programmed hypertension. We have particularly focused on the following areas: metabolic effects of fructose on hypertension and kidney disease; effects of maternal HF consumption on hypertension development in adult offspring; effects of maternal HF consumption on renal transcriptome changes; and application of reprogramming interventions to prevent maternal HF consumption-induced programmed hypertension in animal models. Provision of personalized nutrition is still a faraway goal. Therefore, there is an urgent need to understand early-life nutrient–gene interactions and to develop effective reprogramming strategies for treating hypertension and other HF consumption-related diseases.

  20. Review of the role of potential teratogens in the origin of human nonsyndromic oral clefts.

    Science.gov (United States)

    Wyszynski, D F; Beaty, T H

    1996-05-01

    Oral clefts are common birth defects affecting approximately 1 every 1,000 caucasian newborns. While many syndromes with cleft lip with or without cleft palate (CL/P) or with cleft palate (CP) are recognized, the majority of oral clefts fall into the category of "nonsyndromic oral clefts" and the etiology of this group remains incompletely understood. Investigators agree that oral clefts are multifactorial in origin, with both genetic and environmental factors in their etiology. While animal models have identified several teratogens for oral clefts, their precise relevance for humans remains unclear. The goal of this work is to review literature on environmental exposures potentially associated with non-syndromic oral clefts.

  1. Bilateral microform cleft lip

    OpenAIRE

    Pace, David; Attard Montalto, Simon; Grech, Victor E.

    2006-01-01

    Microform cleft lip (MCL), also called congenital healed cleft lip or cleft lip "frustré", is a rare congenital anomaly. MCL has been described as having the characteristic appearance of a typical cleft lip which has been corrected in utero. We present a girl with bilateral microform cleft lip associated with a preauricular sinus and bilateral camptodactyly.

  2. Cleft Lip and Cleft Palate

    Science.gov (United States)

    ... help you find community and financial resources and education. For your child You can support your child in many ways: Focus on your child as a person, not on the cleft. Point out positive qualities in others that don't involve physical ...

  3. Adult exposure to the synthetic hormone 17α-ethynylestradiol affects offspring of the gastropods Nassarius burchardi and Nassarius jonasii.

    Science.gov (United States)

    Borysko, Larissa; Ross, Pauline M

    2014-05-01

    The aim of this study was to determine whether adult exposure to endocrine disrupting compounds affects offspring using trans-generational testing. Adult estuarine dwelling gastropods Nassarius burchardi and Nassarius jonasii were exposed to the synthetic estrogen 17α-ethynylestradiol (EE2) to determine the effects on the development and survival of their offspring. Adults were maintained in synthetic seawater controls and EE2 treatments (0.005, 0.05, 0.5, 50µg/L) over a sixteen week period. Egg capsules were collected from the adults following four, ten and sixteen weeks of adult exposure and transferred to different EE2 exposure scenarios. Treatment concentrations were selected to represent changes in EE2 exposure that could occur over different periods in an organism's lifecycle. Egg capsules laid by adults were therefore transferred to control or EE2 treatments (0.005, 0.05, 0.5, 5, 50, 500µg/L) to develop until hatching. The percentage of egg capsules with unviable eggs and abnormalities, number of days for hatching to occur and hatching success were measured. The veliger larvae that hatched from egg capsules following two, eight and fourteen weeks of adult exposure to EE2 and controls were used in 96h acute toxicity tests with controls and EE2 treatments at concentrations of 0.5, 5, 50, 500, 1250, 2500, 4000µg/L. Exposure of adult N. burchardi and N. jonasii to EE2 affected the percentage of egg capsules with unviable eggs, the development and hatching success of embryos and survival of veligers. These toxicity tests produced a complex set of results with different responses in developing eggs and veliger larvae to the adult EE2 treatments and length of adult exposure. This study demonstrates the importance of trans-generational testing and adult exposure scenarios in toxicity investigations.

  4. Tessier 30 facial cleft

    Directory of Open Access Journals (Sweden)

    Nirmal C Bhattacharyya

    2012-01-01

    Full Text Available A case of midline cleft of the lower lip with cleft of the mandible and complete duplication of the tongue is reported here. Median cleft of the lower lip, mandible and bifid tongue with ankyloglossia is reported in the literature, but complete duplication of the tongue as part of the Tessier 30 cleft is not yet reported.

  5. Tessier 30 facial cleft

    Science.gov (United States)

    Bhattacharyya, Nirmal C.; Kalita, Kabita; Gogoi, Manoj; Deuri, Pradip K.

    2012-01-01

    A case of midline cleft of the lower lip with cleft of the mandible and complete duplication of the tongue is reported here. Median cleft of the lower lip, mandible and bifid tongue with ankyloglossia is reported in the literature, but complete duplication of the tongue as part of the Tessier 30 cleft is not yet reported. PMID:22529554

  6. Maternal folate depletion and high-fat feeding from weaning affects DNA methylation and DNA repair in brain of adult offspring.

    Science.gov (United States)

    Langie, Sabine A S; Achterfeldt, Sebastian; Gorniak, Joanna P; Halley-Hogg, Kirstin J A; Oxley, David; van Schooten, Frederik J; Godschalk, Roger W L; McKay, Jill A; Mathers, John C

    2013-08-01

    The mechanisms through which environmental and dietary factors modulate DNA repair are still unclear but may include dysregulation of gene expression due to altered epigenetic markings. In a mouse model, we investigated the effect of maternal folate depletion during pregnancy and lactation, and high-fat feeding from weaning, on base excision repair (BER) and DNA methylation and expression of selected BER-related genes in the brain of adult offspring. While folate depletion did not affect BER activity of the mothers, BER increased in the offspring at weaning (P=0.052). In the long term, as observed in 6-mo-old offspring, the double insult, i.e., maternal low-folate supply and high-fat feeding from weaning, decreased BER activity significantly in the cortex, cerebellum, hippocampus, and subcortical regions (P≤0.017). This fall in BER activity was associated with small changes in methylation or expression of BER-related genes. Maternal folate depletion led to slightly increased oxidative DNA damage levels in subcortical regions of adult offspring, which may increase sensitivity to oxidative stress and predispose to neurological disorders. In summary, our data suggest that low-folate supply during early life may leave an epigenetic mark that can predispose the offspring to further dietary insults, causing adverse effects during adult life.

  7. Impact of genetic vulnerability and hypoxia on overall intelligence by age 7 in offspring at high risk for schizophrenia compared with affective psychoses.

    Science.gov (United States)

    Goldstein, J M; Seidman, L J; Buka, S L; Horton, N J; Donatelli, J L; Rieder, R O; Tsuang, M T

    2000-01-01

    Risk factors for schizophrenia, such as genetic vulnerability and obstetric complications, have been associated with cognitive deficits in schizophrenia. We tested the association of these risk factors with general intellectual ability in offspring at high risk for psychoses and normal control subjects. Offspring of 182 parents with DSM-IV schizophrenia or affective psychoses were recruited and diagnosed from the Boston and Providence cohorts of the National Collaborative Perinatal Project (NCPP). Control subjects from the NCPP were selected to be comparable with affected parents based on the parent's age, ethnicity, study site, number of offspring enrolled in the NCPP, and payment status, and on the offspring's age, sex, and history of obstetric complications. Based on data prospectively acquired from pregnancy and events of gestation, labor, delivery, and the neonatal period, we derived a measure of probable hypoxic-ischemic insult. We also report on standardized measures of general intelligence (intelligence quotient [IQ]) collected at age 7. General linear mixed models were used to test for the simultaneous effects of genetic vulnerability, defined as parental diagnosis, and probable hypoxic insult on age 7 IQ. Specificity of the effects for schizophrenia compared with affective psychoses and sex effects were also tested. Low IQ at age 7 was significantly associated with genetic vulnerability to psychoses, in particular with schizophrenia.

  8. Maternal periconceptional and gestational low protein diet affects mouse offspring growth, cardiovascular and adipose phenotype at 1 year of age.

    Directory of Open Access Journals (Sweden)

    Adam J Watkins

    Full Text Available Human and animal studies have revealed a strong association between periconceptional environmental factors, such as poor maternal diet, and an increased propensity for cardiovascular and metabolic disease in adult offspring. Previously, we reported cardiovascular and physiological effects of maternal low protein diet (LPD fed during discrete periods of periconceptional development on 6-month-old mouse offspring. Here, we extend the analysis in 1 year aging offspring, evaluating mechanisms regulating growth and adiposity. Isocaloric LPD (9% casein or normal protein diet (18% casein; NPD was fed to female MF-1 mice either exclusively during oocyte maturation (for 3.5 days prior to mating; Egg-LPD, Egg-NPD, respectively, throughout gestation (LPD, NPD or exclusively during preimplantation development (for 3.5 days post mating; Emb-LPD. LPD and Emb-LPD female offspring were significantly lighter and heavier than NPD females respectively for up to 52 weeks. Egg-LPD, LPD and Emb-LPD offspring displayed significantly elevated systolic blood pressure at 52 weeks compared to respective controls (Egg-NPD, NPD. LPD females had significantly reduced inguinal and retroperitoneal fat pad: body weight ratios compared to NPD females. Expression of the insulin receptor (Insr and insulin-like growth factor I receptor (Igf1r in retroperitoneal fat was significantly elevated in Emb-LPD females (P<0.05, whilst Emb-LPD males displayed significantly decreased expression of the mitochondrial uncoupling protein 1 (Ucp1 gene compared to NPD offspring. LPD females displayed significantly increased expression of Ucp1 in interscapular brown adipose tissue when compared to NPD offspring. Our results demonstrate that aging offspring body weight, cardiovascular and adiposity homeostasis can be programmed by maternal periconceptional nutrition. These adverse outcomes further exemplify the criticality of dietary behaviour around the time of conception on long-term offspring

  9. Short periods of prenatal stress affect growth, behaviour and hypothalamo-pituitary-adrenal axis activity in male guinea pig offspring.

    Science.gov (United States)

    Kapoor, Amita; Matthews, Stephen G

    2005-08-01

    Prenatal stress can have profound long-term influences on physiological function throughout the course of life. We hypothesized that focused periods of moderate prenatal stress at discrete time points in late gestation have differential effects on hypothalamo-pituitary-adrenal (HPA) axis function in adult guinea pig offspring, and that changes in HPA axis function will be associated with modification of anxiety-related behaviour. Pregnant guinea pigs were exposed to a strobe light for 2 h on gestational days (GD) 50, 51, 52 (PS50) or 60, 61, 62 (PS60) (gestation length approximately 70 days). A control group was left undisturbed throughout pregnancy. Behaviour was assessed in male offspring on postnatal day (PND)25 and PND70 by measurement of ambulatory activity and thigmotaxis (wall-seeking behaviour) in a novel open field environment. Subsequent to behavioural testing, male offspring were cannulated (PND75) to evaluate basal and activated HPA axis function. Body weight was significantly decreased in adult PS50 and PS60 offspring and this effect was apparent soon after weaning. The brain-to-body-weight ratio was significantly increased in adult PS50 males. Basal plasma cortisol levels were elevated in PS50 male offspring throughout the 24 h sampling period compared with controls. In response to an ACTH challenge and to exposure to an acute stressor, PS60 male offspring exhibited elevated plasma cortisol responses. Plasma testosterone concentrations were strikingly decreased in PS50 offspring. Thigmotaxis in the novel environment was increased in PS50 male offspring at PND25 and PND70, suggesting increased anxiety in these animals. In conclusion, prenatal stress during critical windows of neuroendocrine development programs growth, HPA axis function, and stress-related behaviour in adult male guinea pig offspring. Further, the nature of the effect is dependant on the timing of the maternal stress during pregnancy.

  10. Cleft Lip and Palate Surgery

    Science.gov (United States)

    ... correct a physical defect caused by a cleft lip or cleft palate, which occur once in every 600 live ... recommend additional treatment for complications caused by cleft lip and cleft palate. Additional treatments may include: • Surgery to correct ...

  11. Paternal investment and status-related child outcomes: timing of father's death affects offspring success.

    Science.gov (United States)

    Shenk, Mary K; Scelza, Brooke A

    2012-09-01

    Recent work in human behavioural ecology has suggested that analyses focusing on early childhood may underestimate the importance of paternal investment to child outcomes since such investment may not become crucial until adolescence or beyond. This may be especially important in societies with a heritable component to status, as later investment by fathers may be more strongly related to a child's adult status than early forms of parental investment that affect child survival and child health. In such circumstances, the death or absence of a father may have profoundly negative effects on the adult outcomes of his children that cannot be easily compensated for by the investment of mothers or other relatives. This proposition is tested using a multigenerational dataset from Bangalore, India, containing information on paternal mortality as well as several child outcomes dependent on parental investment during adolescence and young adulthood. The paper examines the effects of paternal death, and the timing of paternal death, on a child's education, adult income, age at marriage and the amount spent on his or her marriage, along with similar characteristics of spouses. Results indicate that a father's death has a negative impact on child outcomes, and that, in contrast to some findings in the literature on father absence, the effects of paternal death are strongest for children who lose their father in late childhood or adolescence.

  12. Investment Decisions and Offspring Gender

    OpenAIRE

    Bogan, Vicki

    2009-01-01

    Economic research has documented many economic affects of offspring gender on parental behavior. However, an open question exists as to whether offspring gender has any influence on parental investment decision making. Specifically, I investigate whether female offspring have an impact on investment decisions with respect to stock and bondholding. Using a panel data set, I find that for male respondents, having only female offspring increases the probability of stockholding by over 17%. In co...

  13. Cleft Palate Foundation

    Science.gov (United States)

    ... available in English , Spanish , and Mandarin ! Information on Cleft Lip and Palate Our booklets and factsheets address a variety of issues related to cleft lip and palate, such as speech, hearing, genetics, and what to ...

  14. Cleft lip repair - slideshow

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/presentations/100010.htm Cleft lip repair - series—Normal anatomy To use the sharing ... abnormal opening in the middle of the upper lip. A cleft palate is an opening in the roof of ...

  15. Is the Performance of a Specialist Herbivore Affected by Female Choices and the Adaptability of the Offspring?

    Directory of Open Access Journals (Sweden)

    Tarcísio Visintin da Silva Galdino

    Full Text Available The performance of herbivorous insects is related to the locations of defenses and nutrients found in the different plant organs on which they feed. In this context, the females of herbivorous insect species select certain parts of the plant where their offspring can develop well. In addition, their offspring can adapt to plant defenses. A system where these ecological relationships can be studied occurs in the specialist herbivore, Tuta absoluta, on tomato plants. In our experiments we evaluated: (i the performance of the herbivore T. absoluta in relation to the tomato plant parts on which their offspring had fed, (ii the spatial distribution of the insect stages on the plant canopy and (iii the larval resistance to starvation and their walking speed at different instar stages. We found that the T. absoluta females preferred to lay their eggs in the tomato plant parts where their offspring had greater chances of success. We verified that the T. absoluta females laid their eggs on both sides of the leaves to better exploit resources. We also observed that the older larvae (3rd and 4th instars moved to the most nutritious parts of the plant, thus increasing their performance. The T. absoluta females and offspring (larvae were capable of identifying plant sites where their chances of better performance were higher. Additionally, their offspring (larvae spread across the plant to better exploit the available plant nutrients. These behavioral strategies of T. absoluta facilitate improvement in their performance after acquiring better resources, which help reduce their mortality by preventing the stimulation of plant defense compounds and the action of natural enemies.

  16. The incidence, classification, etiology, and embryology of oral clefts.

    Science.gov (United States)

    Thornton, J B; Nimer, S; Howard, P S

    1996-09-01

    There are numerous problems encountered among individuals with a cleft lip and/or cleft palate. Addressing these problems necessitates a multidisciplinary approach, requiring a team of experts to facilitate care for these individuals. Dentists play a vital role on the team. An orthodontist, pediatric dentist, oral maxillofacial surgeon, and prosthodontist usually represent the dental members of the team. The success of this team depends on expertise within each discipline but also depends on each member having a broad base of knowledge in general about oral clefts. An understanding of other disciplines and how they approach the treatment of oral clefts is important for each team member. Also, each team representative should appreciate the need to understand the causes of oral clefts, how clefts develop in utero, how various populations are affected, and how to recognize and classify an oral cleft. It is difficult to communicate effectively within the team if we fail to recognize the importance of expanding our knowledge to include other aspects of oral clefts beyond treatment perspectives. This article provides the orthodontist with basic information as it relates to the etiology of oral clefts (ie, genetics, teratogens, and medical conditions), the demographics and incidence of oral clefts, the embryology and classification of clefts.

  17. Maternal Alcohol Consumption, Alcohol Metabolism Genes, and the Risk of Oral Clefts: A Population-based Case-Control Study in Norway, 1996–2001

    Science.gov (United States)

    Boyles, Abee L.; DeRoo, Lisa A.; Lie, Rolv T.; Taylor, Jack A.; Jugessur, Astanand; Murray, Jeffrey C.; Wilcox, Allen J.

    2010-01-01

    Heavy maternal alcohol consumption during early pregnancy increases the risk of oral clefts, but little is known about how genetic variation in alcohol metabolism affects this association. Variants in the alcohol dehydrogenase 1C (ADH1C) gene may modify the association between alcohol and clefts. In a population-based case-control study carried out in Norway (1996–2001), the authors examined the association between maternal alcohol consumption and risk of oral clefts according to mother and infant ADH1C haplotypes encoding fast or slow alcohol-metabolizing phenotypes. Subjects were 483 infants with oral cleft malformations and 503 control infants and their mothers, randomly selected from all other livebirths taking place during the same period. Mothers who consumed 5 or more alcoholic drinks per sitting during the first trimester of pregnancy had an elevated risk of oral cleft in their offspring (odds ratio (OR) = 2.6, 95% confidence interval (CI): 1.4, 4.7). This increased risk was evident only in mothers or children who carried the ADH1C haplotype associated with reduced alcohol metabolism (OR= 3.0, 95% CI: 1.4, 6.8). There was no evidence of alcohol-related risk when both mother and infant carried only the rapid-metabolism ADH1C variant (OR = 0.9, 95% CI: 0.2, 4.1). The teratogenic effect of alcohol may depend on the genetic capacity of the mother and fetus to metabolize alcohol. PMID:20810466

  18. Cleft Palate; A Multidiscipline Approach.

    Science.gov (United States)

    Stark, Richard B., Ed.

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

  19. Bilateral cleft lip nasal deformity

    Directory of Open Access Journals (Sweden)

    Singh Arun

    2009-01-01

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

  20. Cleft lip and palate repair

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/002979.htm Cleft lip and palate repair To use the sharing features on this page, please enable JavaScript. Cleft lip and cleft palate repair is surgery to fix birth defects ...

  1. Cleft Lip and Palate (For Parents)

    Science.gov (United States)

    ... or genes that cause cleft palate or cleft lip. Clefts happen more often in children of Asian, Latino, ... with a facial birth defect like a cleft lip or cleft palate. Related Health Problems As you might imagine, ...

  2. Group housing during gestation affects the behaviour of sows and the physiological indices of offspring at weaning.

    Science.gov (United States)

    Zhou, Q; Sun, Q; Wang, G; Zhou, B; Lu, M; Marchant-Forde, J N; Yang, X; Zhao, R

    2014-07-01

    To compare the behaviour of sows and the physiological indices of their offspring in stall and group-housing systems, 28 sows were randomly distributed into two systems with 16 sows in stalls, and the other 12 sows were divided into three groups with four sows per pen. The area per sow in stalls and groups was 1.2 and 2.5 m2, respectively. Back fat depth of the sow was measured. Salivary cortisol concentration of the sows, colostrum composition and piglets' serum biochemical indicators were evaluated. The behaviour of the sows, including agonistic behaviour, non-agonistic social behaviour, stereotypical behaviour and other behaviours at weeks 2, 9 and 14 of pregnancy were analysed. The results showed no differences in the back fat depth of sows. Colostrum protein, triglyceride, triiodothyronine, thyroxine and prolactin concentrations in the whey also demonstrated no significant differences between the two housing systems. Salivary cortisol concentration was significantly higher in the sows housed in groups than the sows in stalls. The concentrations of serum total cholesterol and low-density lipoprotein (LDL) cholesterol were significantly higher in the offspring of sows housed in groups (P=0.006 and 0.005, respectively). The GLM procedure for repeated measures analysis showed the frequency of drinking, and non-agonistic social behaviour was significantly higher in the sows housed in groups than the sows in stalls; yet the frequency of agonistic and sham chewing demonstrated the opposite direction. The duration of standing was significantly longer in the sows housed in groups, but the sitting and stereotypical behaviour duration were significantly shorter compared with the sows in stalls. These results indicated that group housing has no obvious influence on the colostrum composition of sows; however, it was better for sows to express their non-agonistic social behaviour and reduce the frequency of agonistic behaviour and stereotypical behaviour. Meanwhile, group

  3. Cleft Lip and Palate

    Science.gov (United States)

    ... With Cleft Lip or Cleft Palate en español Labio leporino y paladar hendido Tilt your head back a bit and look in the mirror. Do you see the way your nose connects to your upper lip? Now open your mouth. Do you see the ...

  4. Parental ploidy strongly affects offspring fitness in heteroploid crosses among three cytotypes of autopolyploid Jacobaea carniolica (Asteraceae.

    Directory of Open Access Journals (Sweden)

    Michaela Sonnleitner

    Full Text Available Reproductive interactions among cytotypes in their contact zones determine whether these cytotypes can co-exist and form stable contact zones or not. In autopolyploids, heteroploid cross-compatibilities might depend on parental ploidy, but tests of this hypothesis in autopolyploid systems with more than two ploidies are lacking. Here, we study Jacobaea carniolica, which comprises diploid, tetraploid, and hexaploid individuals regularly forming contact zones. Seeds obtained from in situ cross-pollinations within and among cytotypes were subjected to DNA flow cytometry and greenhouse germination experiments. Hybrid fitness and parental effects on hybrid fitness were tested with regression models comparing fitness parameters of early life stages. Irrespective of the direction of crosses, seed viability and seedling survival in diploid-polyploid crosses were substantially lower than in tetraploid-hexaploid crosses. In contrast, seedling growth traits indicated neither transgressive character expression nor any selection against hybrid offspring. Congruent with a model of genome dosage effects, these traits differed between reciprocal crosses, especially of diploids and tetraploids, where trait values resembled those of the maternal parent. The strong effect of parental ploidy on offspring fitness in heteroploid crosses may cause contact zones involving exclusively polyploid cytotypes to be less stable over longer terms than those involving diploids and polyploids.

  5. Maternal Obesity, Overweight and Gestational Diabetes Affect the Offspring Neurodevelopment at 6 and 18 Months of Age--A Follow Up from the PREOBE Cohort.

    Directory of Open Access Journals (Sweden)

    Francisco J Torres-Espinola

    Full Text Available Brain development in fetal life and early infancy is critical to determine lifelong performance in various neuropsychological domains. Metabolic pathologies such as overweight, obesity, and gestational diabetes in pregnant women are prevalent and increasing risk factors that may adversely affect long-term brain development in their offspring.The objective of this research was to investigate the influence of maternal metabolic pathologies on the neurodevelopment of the offspring at 6 and 18 months of life.This was a prospective case-control study of 331 mother- and child pairs from Granada, Spain. The mothers were included during pregnancy into four groups according to their pre-gestational body mass index and their gestational diabetes status; overweight (n:56, obese (n:64, gestational diabetic (n:79, and healthy normal weight controls (n:132. At 6 months and 18 months we assessed the children with the Bayley III scales of neurodevelopment.At 6 months (n=215, we found significant group differences in cognition composite language, and expressive language. Post hoc test revealed unexpectedly higher scores in the obese group compared to the normal weight group and a similar trend in overweight and diabetic group. The effects on language remained significant after adjusting for confounders with an adjusted odds ratio for a value above median in composite language score of 3.3 (95% CI: 1.1, 10.0; p=0.035 for children of obese mothers. At 18 month (n=197, the offspring born to obese mothers had lost five points in language composite scores and the previous differences in language and cognition was replaced by a suggestive trend of lower gross motor scores in the overweight, obese, and diabetic groups.Infants of obese mothers had a temporary accelerated development of cognition and language, followed by a rapid deceleration until 18 months of age, particularly of language scores. This novel observation prompts further confirmative studies to explore

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

    Directory of Open Access Journals (Sweden)

    Laureen Supit

    2008-12-01

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

  7. Maternal in utero exposure to the endocrine disruptor di-(2-ethylhexyl) phthalate affects the blood pressure of adult male offspring

    Energy Technology Data Exchange (ETDEWEB)

    Martinez–Arguelles, D.B. [The Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada H3G 1A4 (Canada); Department of Medicine, McGill University, Montreal, Quebec, Canada H3G 1A4 (Canada); McIntosh, M.; Rohlicek, C.V. [The Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada H3G 1A4 (Canada); Department of Pediatrics, McGill University, Montreal, Quebec, Canada H3G 1A4 (Canada); Culty, M. [The Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada H3G 1A4 (Canada); Department of Medicine, McGill University, Montreal, Quebec, Canada H3G 1A4 (Canada); Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada H3G 1A4 (Canada); Zirkin, B.R. [Department of Biochemistry and Molecular Biology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD 21205 (United States); Papadopoulos, V., E-mail: vassilios.papadopoulos@mcgill.ca [The Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada H3G 1A4 (Canada); Department of Medicine, McGill University, Montreal, Quebec, Canada H3G 1A4 (Canada); Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada H3G 1A4 (Canada); Department of Biochemistry and Molecular Biology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MD 21205 (United States)

    2013-01-01

    Di-(2-ethylhexyl) phthalate (DEHP) is used industrially to add flexibility to polyvinyl chloride (PVC) polymers and is ubiquitously found in the environment, with evidence of prenatal, perinatal and early infant exposure in humans. In utero exposure to DEHP decreases circulating testosterone levels in the adult rat. In addition, DEHP reduces the expression of the angiotensin II receptors in the adrenal gland, resulting in decreased circulating aldosterone levels. The latter may have important effects on water and electrolyte balance as well as systemic arterial blood pressure. Therefore, we determined the effects of in utero exposure to DEHP on systemic arterial blood pressure in the young (2 month-old) and older (6.5 month-old) adult rats. Sprague-Dawley pregnant dams were exposed from gestational day 14 until birth to 300 mg DEHP/kg/day. Blood pressure, heart rate, and activity data were collected using an intra-aortal transmitter in the male offspring at postnatal day (PND) 60 and PND200. A low (0.01%) and high-salt (8%) diet was used to challenge the animals at PND200. In utero exposure to DEHP resulted in reduced activity at PND60. At PND200, systolic and diastolic systemic arterial pressures as well as activity were reduced in response to DEHP exposure. This is the first evidence showing that in utero exposure to DEHP has cardiovascular and behavioral effects in the adult male offspring. Highlights: ► In utero exposure to 300 mg DEHP/kg/day decreases activity at postnatal day 60. ► In utero exposure to DEHP decreases aldosterone levels at postnatal day 200. ► In utero exposure to DEHP decreases systolic blood pressure at postnatal day 200. ► An 8% salt diet recovers the decreased blood pressure at postnatal day 200.

  8. Higher risk of orofacial clefts in children born to mothers with angina pectoris: a population-based case-control study.

    Science.gov (United States)

    Czeizel, Andrew E; Vereczkey, Attila; Bánhidy, Ferenc

    2015-02-01

    Previously an unexpected association of maternal angina pectoris (MAP) during pregnancy with a higher risk of orofacial clefts in their children was found. There were three objectives of this study: (i) to evaluate the validity of MAP-diagnoses in the previous study and the recent history of mothers with MAP in a follow-up study; (ii) to estimate the prevalence of other congenital abnormalities in the offspring of mothers with MAP; and (iii) to analyze the possible effect of confounders for the risk of orofacial clefts. The large dataset of population-based Hungarian Case-Control Surveillance System of Congenital Abnormalities, 1980-1996 was evaluated including 22 843 cases with congenital abnormalities and 38 151 controls without any defect. Twenty-two cases (0.10%) and 12 controls (0.03%) were born to mothers with medically recorded MAP (odds ratio [OR] with 95% confidence interval [CI]: 3.7, 1.8-7.3). Of 22 cases, six had isolated cleft lip ± palate (OR with 95% CI: 13.3, 4.9-35.9) and two were affected with isolated cleft palate (OR with 95% CI: 10.5, 2.3-47.6). The diagnosis of MAP was confirmed in seven women visited at home in 2009-2010, two had recent myocardial infarction and five were smokers. There was no higher risk for other congenital abnormalities. In conclusion the higher risk of orofacial clefts was confirmed in the children of mothers with MAP and smoking may trigger the genetic predisposition of both MAP and orofacial clefts. However, the number of cases was limited and therefore further studies are needed to confirm or reject this theoretically and practically important observation.

  9. Molecular contribution to cleft palate production in cleft lip mice.

    Science.gov (United States)

    Sasaki, Yasunori; Taya, Yuji; Saito, Kan; Fujita, Kazuya; Aoba, Takaaki; Fujiwara, Taku

    2014-05-01

    Cleft palate following cleft lip may include a developmental disorder during palatogenesis. CL/Fr mice fetuses, which develop cleft lip and palate spontaneously, have less capability for in vivo cell proliferation in palatal mesenchyme compared with CL/Fr normal fetuses. In order to know the changes of signaling molecules contributing to cleft palate morphogenesis following cleft lip, the mRNA expression profiles were compared in palatal shelves oriented vertically (before elevation) in CL/Fr fetuses with or without cleft lip. The changes in mRNA profile of cleft palate morphogenesis were presented in a microarray analysis, and genes were restricted to lists contributing to cleft palate development in CL/Fr fetuses with cleft lip. Four candidate genes (Ywhab, Nek2, Tacc1 and Frk) were linked in a gene network that associates with cell proliferation (cell cycle, MAPK, Wnt and Tgf beta pathways). Quantitative real-time RT-PCR highlighted the candidate genes that significantly changed in CL/Fr fetuses with cleft lip (Ywhab, Nek2 and Tacc1). The results of these molecular contributions will provide useful information for a better understanding of palatogenesis in cleft palate following cleft lip. Our data indicated the genetic contribution to cleft palate morphogenesis following cleft lip.

  10. Body attributes of both parents jointly affect offspring sex allocation in a socially monogamous, size-monomorphic passerine

    Institute of Scientific and Technical Information of China (English)

    Xin LU; Xianhai ZENG; Bo DU

    2013-01-01

    Theory predicts that because males are more variable in reproductive success than females,a mother should produce more sons to maximize fitness return from the sex allocation if she is of high-quality (the female quality hypothesis) or mates with a high-quality male (the male quality hypothesis).While most previous studies have looked at each hypothesis,we tested both of them simultaneously in the white-rumped snowfinch Montifringilla taczanowskii,a socially monogamous,sexually monomorphic passerine where body size is a potential indicator of individual quality in intrasexual competition and territory defense.Brood sex ratios at the population level did not deviate from random expectation.Among individual broods,the proportion of sons did not depend on body size of either male or female parent,but on interaction of this trait of both parents.Further analyses revealed that brood sex ratios were independent of body size of male or female parents when their mates were smaller,but positively related with body size of male or female parents when their mates were larger.These results suggest that mechanisms underlying the two hypotheses may act jointly on offspring sex allocation.The mechanisms are expected to evolve through size-assortative mating which is often reached by sexual selection.

  11. Age affects the expression of maternal care and subsequent behavioural development of offspring in a precocial bird.

    Directory of Open Access Journals (Sweden)

    Florent Pittet

    Full Text Available Variations of breeding success with age have been studied largely in iteroparous species and particularly in birds: survival of offspring increases with parental age until senescence. Nevertheless, these results are from observations of free-living individuals and therefore, it remains impossible to determine whether these variations result from parental investment or efficiency or both, and whether these variations occur during the prenatal or the postnatal stage or during both. Our study aimed first, to determine whether age had an impact on the expression of maternal breeding care by comparing inexperienced female birds of two different ages, and second, to define how these potential differences impact chicks' growth and behavioural development. We made 22 2-month-old and 22 8-month-old female Japanese quail foster 1-day-old chicks. We observed their maternal behaviour until the chicks were 11 days old and then tested these chicks after separation from their mothers. Several behavioural tests estimated their fearfulness and their sociality. We observed first that a longer induction was required for young females to express maternal behaviour. Subsequently as many young females as elder females expressed maternal behaviour, but young females warmed chicks less, expressed less covering postures and rejected their chicks more. Chicks brooded by elder females presented higher growth rates and more fearfulness and sociality. Our results reveal that maternal investment increased with age independently of maternal experience, suggesting modification of hormone levels implied in maternal behaviour. Isolated effects of maternal experience should now be assessed in females of the same age. In addition, our results show, for first time in birds, that variations in maternal care directly induce important differences in the behavioural development of chicks. Finally, our results confirm that Japanese quail remains a great laboratory model of avian

  12. Indirect modulation of Shh signaling by Dlx5 affects the oral-nasal patterning of palate and rescues cleft palate in Msx1-null mice.

    Science.gov (United States)

    Han, Jun; Mayo, Julie; Xu, Xun; Li, Jingyuan; Bringas, Pablo; Maas, Richard L; Rubenstein, John L R; Chai, Yang

    2009-12-01

    Cleft palate represents one of the most common congenital birth defects in human. During embryonic development, palatal shelves display oronasal (O-N) and anteroposterior polarity before the onset of fusion, but how the O-N pattern is established and how it relates to the expansion and fusion of the palatal shelves are unknown. Here we address these questions and show that O-N patterning is associated with the expansion and fusion of the palatal shelves and that Dlx5 is required for the O-N patterning of palatal mesenchyme. Loss of Dlx5 results in downregulation of Fgf7 and expanded Shh expression from the oral to the nasal side of the palatal shelf. This expanded Shh signaling is sufficient to restore palatal expansion and fusion in mice with compromised palatal mesenchymal cell proliferation, such as Msx1-null mutants. Exogenous Fgf7 inhibits Shh signaling and reverses the cranial neural crest (CNC) cell proliferation rescue in the Msx1/Dlx5 double knockout palatal mesenchyme. Thus, Dlx5-regulated Fgf7 signaling inhibits the expression of Shh, which in turn controls the fate of CNC cells through tissue-tissue interaction and plays a crucial role during palatogenesis. Our study shows that modulation of Shh signaling may be useful as a potential therapeutic approach for rescuing cleft palate.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1996-03-01

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

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

    Science.gov (United States)

    Naidoo, S; Bütow, K-W

    2015-04-01

    We report an oblique lip-alveolar band, a rare banding of soft tissue that involves the lip and alveolus, which we have found in five patients with cleft lip and palate (0.2%), compared with an incidence of the Simonartz lip-lip band of 5.7%). To our knowledge this has not been reported previously. In two patients the bands affected the cleft lip and alveolus bilaterally, with or without the palatal cleft, and in three the bands were unilateral cleft lip and alveolus with or without the palatal cleft.

  15. Branchial cleft cyst

    Directory of Open Access Journals (Sweden)

    Vaishali Nahata

    2016-01-01

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

  16. Laryngeal cleft type 1

    Directory of Open Access Journals (Sweden)

    Danilo de Assis Pereira

    2015-06-01

    Full Text Available The clinical itinerary and the institution of conservative therapy in a case of laryngeal cleft type 1 refers to a child born by cesarean section, Apgar 9 and 10, a history of placental nd abruption in the 2 month of pregnancy, with respiratory nd distress on the 2 day of life and difficulty in breast feeding mothers. Presented evidence of aspiration pneumonia. The videodeglutogram showed aspiration of large amounts of material contrasted during swallowing. In bronchoscopy was visualized formation of threadlike small slit making the diagnosis of laryngeal cleft. We then decided, by institution of conservative treatment with enteral nutrition training and thickened with swallowing.

  17. Declarative verbal memory impairments in middle-aged women who are caregivers of offspring with autism spectrum disorders: The role of negative affect and testosterone.

    Science.gov (United States)

    Romero-Martínez, A; González-Bono, E; Salvador, A; Moya-Albiol, L

    2016-01-01

    Caring for offspring diagnosed with a chronic psychological disorder such as autism spectrum disorder (ASD) is used in research as a model of chronic stress. This chronic stress has been reported to have deleterious effects on caregivers' cognition, particularly in verbal declarative memory. Moreover, such cognitive decline may be mediated by testosterone (T) levels and negative affect, understood as depressive mood together with high anxiety and anger. This study aimed to compare declarative memory function in middle-aged women who were caregivers for individuals with ASD (n = 24; mean age = 45) and female controls (n = 22; mean age = 45), using a standardised memory test (Rey's Auditory Verbal Learning Test). It also sought to examine the role of care recipient characteristics, negative mood and T levels in memory impairments. ASD caregivers were highly sensitive to proactive interference and verbal forgetting. In addition, they had higher negative affect and T levels, both of which have been associated with poorer verbal memory performance. Moreover, the number of years of caregiving affected memory performance and negative affect, especially, in terms of anger feelings. On the other hand, T levels in caregivers had a curvilinear relationship with verbal memory performance; that is, increases in T were associated with improvements in verbal memory performance up to a certain point, but subsequently, memory performance decreased with increasing T. Chronic stress may produce disturbances in mood and hormonal levels, which in turn might increase the likelihood of developing declarative memory impairments although caregivers do not show a generalised decline in memory. These findings should be taken into account for understanding the impact of cognitive impairments on the ability to provide optimal caregiving.

  18. A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13

    DEFF Research Database (Denmark)

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

    2016-01-01

    Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental...

  19. Novel ETHE1 mutation in a carrier couple having prior offspring affected with ethylmalonic encephalopathy: Genetic analysis, clinical management and reproductive outcome.

    LENUS (Irish Health Repository)

    Walsh, David J

    2010-03-01

    Ethylmalonic encephalopathy (EE) is an autosomally recessive inherited disorder with a relentlessly progressive decline in neurological function, usually fatal by the age of ten. It is characterised by generalised hypotonia, psychomotor regression, spastic tetraparesis, dystonia, seizures and, eventually, global neurological failure. Approximately 50 reports have been published worldwide describing this devastating disease, most involving patients of Mediterranean or Arab origin. The fundamental defect in EE likely involves the impairment of a mitochondrial sulphur dioxygenase coded by the ETHE1 gene responsible for the catabolism of sulphide, which subsequently accumulates to toxic levels. A diagnosis of EE should initiate careful genetic evaluation and counselling, particularly if the parents intend to have additional offspring. The present report describes the diagnosis of EE in a reproductive endocrinology context, where both members of a non-consanguineous couple were confirmed to be carriers of an identical A↷G mutation. This previously unknown mutation at nucleotide position c.494 resulted in an amino acid substitution, p.Asp165Gly. Although consideration was given to in vitro fertilisation, embryo biopsy and single gene pre-implantation genetic diagnosis, the couple decided to first utilise a less aggressive therapeutic approach with donor sperm insemination. Pregnancy with a low risk of EE was indeed achieved; however, the infant was affected with a different anomaly (hypoplastic left heart). As this case demonstrates, prior to the initiation of fertility therapy, genetic analysis may be used to provide a confirmatory diagnosis when EE is suspected.

  20. Offspring Protection

    Directory of Open Access Journals (Sweden)

    Eric T. Steiner

    2016-08-01

    Full Text Available Parental aggression, that is, offspring protection aggression, can be viewed as a type of parental investment. Most mammalian males do not exhibit parental investment and therefore exhibit little, if any, parental aggression. Men demonstrate parental investment, and are typically more physically aggressive than women, but parental physical aggression in humans has been largely unexplored. The current study examined potential sex differences in estimates of parental physical aggression involving hypothetical situations, while controlling for general physical aggression. A self-report measure was administered to 217 students from a western U.S. university (55 male nonparents, 50 female nonparents, 54 fathers, and 58 mothers. Male nonparents reported higher parental physical aggression than female nonparents, but there was no difference between mothers and fathers. The results are interpreted in light of ancestral effects of sexual selection and proximal effects of sex differences in testosterone, risk taking, and fear aversion.

  1. Cleft size at the time of palate repair in complete unilateral cleft lip and palate as an indicator of maxillary growth.

    Science.gov (United States)

    Liao, Y-F; Prasad, N K K; Chiu, Y-T; Yun, C; Chen, P K-T

    2010-10-01

    Cleft size at the time of palate repair might affect the difficulty of surgical repair and, thus, indirectly postoperative maxillary growth. This retrospective study aimed to determine whether a correlation existed between the cleft size at the time of palate repair and the growth of the maxilla. Maxillary dental casts of 39 infants with non-syndromic complete unilateral cleft lip and palate, taken at the time of palate repair, were used to measure cleft size. Cleft size was defined as the percentage of the total palatal area. The later growth of the maxilla was determined using lateral and postero-anterior cephalometric radiographs taken at 9 years of age. The Pearson correlation analysis was used for statistical analysis. The results showed negative correlations between cleft size and the maxillary length (PMP-ANS, PMP-A) and the maxillary protrusion (S-N-ANS, SNA). These data suggest that in patients with complete unilateral cleft lip and palate there is a significant correlation between the cleft size at the time of palate repair and the maxillary length and protrusion. Patients with a large cleft at the time of palate repair have a shorter and more retrusive maxilla than those with a small cleft by the age of 9 years.

  2. Initial size of cleft does not correlate with size and function of nasal airway in adults with unilateral cleft lip and palate.

    Science.gov (United States)

    Reiser, Erika; Andlin-Sobocki, Anna; Mani, Maria; Holmström, Mats

    2011-06-01

    The noses of patients with clefts are often functionally inadequate. The aim of the present study was to evaluate the correlation between size of the maxillary cleft in infancy and size and function of the nasal airway in adults with unilateral cleft lip and palate (UCLP). This is a long-term follow up study including 53 patients with UCLP born between 1960 and 1987 and treated at the Cleft Lip and Palate Centre, Uppsala University Hospital, Sweden. Lip repair was performed at 3-4 months of age followed by either a one-stage or a two-stage palatal closure. The size of the cleft was measured on infant maxillary dental casts. Nasal minimum cross-sectional area (cm(2)) and volume (cm(3)) (acoustic rhinometry), air flow resistance (Pa s/cm(3)) (rhinomanometry), peak inspiratory flow (l/min) (peak nasal inspiratory flow) and number of identified odours (Scandinavian odor-identification test) were assessed in adulthood. The size of the maxillary cleft varied considerably at infancy. The size of the nasal airway and its function on the cleft side in adulthood were reduced compared with the non-cleft side, but no correlations were found between size of the initial cleft in infancy and size and function of the nasal airway in adulthood. In adults born with UCLP, therefore, size of the maxillary cleft in infancy does not seem to affect size and function of the nasal airway in adulthood.

  3. Neuroembryology and functional anatomy of craniofacial clefts

    Directory of Open Access Journals (Sweden)

    Ewings Ember

    2009-10-01

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

  4. Cleft Lip Repair, Nasoalveolar Molding, and Primary Cleft Rhinoplasty.

    Science.gov (United States)

    Bhuskute, Aditi A; Tollefson, Travis T

    2016-11-01

    Cleft lip and palate are the fourth most common congenital birth defect. Management requires multidisciplinary care owing to the complexity of these clefts on midface growth, dentition, Eustachian tube function, and lip and nasal cosmesis. Repair requires planning, but can be performed systematically to reduce variability of outcomes. The use of primary rhinoplasty at the time of cleft lip repair can improve nose symmetry and reduce nasal deformity. Use of nasoalveolar molding ranging from lip taping to the use of preoperative infant orthopedics has played an important role in improving functional and cosmetic results of cleft lip repair.

  5. Cleft lip and palate repair - discharge

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000004.htm Cleft lip and palate repair - discharge To use the sharing ... Elsevier Saunders; 2015:chap 8. Read More Cleft lip and palate Cleft lip and palate repair Review Date 5/9/ ...

  6. Maternal Food Restriction during Pregnancy and Lactation Adversely Affect Hepatic Growth and Lipid Metabolism in Three-Week-Old Rat Offspring

    Directory of Open Access Journals (Sweden)

    Sangmi Lee

    2016-12-01

    Full Text Available Maternal malnutrition influences the early development of foetal adaptive changes for survival. We explored the effects of maternal undernutrition during gestation and lactation on hepatic growth and function. Sprague-Dawley rats were fed a normal or a food-restricted (FR diet during gestation and/or lactation. We performed analyses of covariance (adjusting for the liver weight/body weight ratio to compare hepatic growth and lipid metabolism among the offspring. Maternal FR during gestation triggered the development of wide spaces between hepatic cells and increased the expression of mammalian target of rapamycin (mTOR in three-week-old male offspring compared with controls (both p < 0.05. Offspring nursed by FR dams exhibited wider spaces between hepatic cells and a lower liver weight/body weight ratio than control offspring, and increased mTOR expression (p < 0.05. Interestingly, the significant decrease in expression of lipogenic-related genes was dependent on carbohydrate-responsive element-binding protein, despite the increased expression of sterol regulatory element-binding protein 1 (SREBP1 (p < 0.05. This study demonstrated increased expression of key metabolic regulators (mTOR and SREBP1, alterations in lipid metabolism, and deficits in hepatic growth in the offspring of FR-treated dams.

  7. Clefting in pumpkin balloons

    Science.gov (United States)

    Baginski, F.; Schur, W.

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

  8. Ankyloglossia with cleft lip: A rare case report

    Directory of Open Access Journals (Sweden)

    Kritika Jangid

    2015-01-01

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

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

    Science.gov (United States)

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

    2015-01-01

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

  10. Repeated in utero and lactational 2,3,7,8-tetrachlorodibenzo-p-dioxin exposure affects male gonads in offspring, leading to sex ratio changes in F2 progeny.

    Science.gov (United States)

    Ikeda, Masahiko; Tamura, Masashi; Yamashita, Junko; Suzuki, Chinatsu; Tomita, Takako

    2005-08-15

    The effects of in utero and lactational 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) on the reproductive system of male rat offspring (F1) and the sex ratio of the subsequent generation (F2) were examined. Female Holtzman rats were gavaged with an initial loading dose of 400 ng/kg TCDD prior to mating, followed by weekly maintenance doses of 80 ng/kg during mating, pregnancy, and the lactation period. Maternal exposure to TCDD had no significant effects on fetus/pup (F1) mortality, litter size, or sex ratio on gestation day (GD) 20 or postnatal day (PND) 2. The TCDD concentration in maternal livers and adipose tissue on GD20 was 1.21 and 1.81 ng/kg, respectively, and decreased at weaning to 0.72 in the liver and 0.84 in the adipose tissue. In contrast, the TCDD concentration in pup livers was 1.32 ng/kg on PND2 and increased to 1.80 ng/kg at weaning. Ventral prostate weight of male offspring was significantly decreased by TCDD exposure on PND28 and 120 compared with that of controls. Weight of the testes, cauda epididymides, and seminal vesicle, and sperm number in the cauda epididymis were not changed by TCDD exposure at PND120. TCDD- or vehicle-exposed male offspring were mated with unexposed females. The sex ratio (percentage of male pups) of F2 offspring was significantly reduced in the TCDD-exposed group compared with controls. These results suggest that in utero and lactational TCDD exposures affect the development of male gonads in offspring (F1), leading to changes in the sex ratio of the subsequent generation (F2).

  11. Chronic Maternal Low-Protein Diet in Mice Affects Anxiety, Night-Time Energy Expenditure and Sleep Patterns, but Not Circadian Rhythm in Male Offspring

    Science.gov (United States)

    Mahadevan, Sangeetha K.; Fiorotto, Marta L.; Van den Veyver, Ignatia B.

    2017-01-01

    Offspring of murine dams chronically fed a protein-restricted diet have an increased risk for metabolic and neurobehavioral disorders. Previously we showed that adult offspring, developmentally exposed to a chronic maternal low-protein (MLP) diet, had lower body and hind-leg muscle weights and decreased liver enzyme serum levels. We conducted energy expenditure, neurobehavioral and circadian rhythm assays in male offspring to examine mechanisms for the body-weight phenotype and assess neurodevelopmental implications of MLP exposure. C57BL/6J dams were fed a protein restricted (8%protein, MLP) or a control protein (20% protein, C) diet from four weeks before mating until weaning of offspring. Male offspring were weaned to standard rodent diet (20% protein) and single-housed until 8–12 weeks of age. We examined body composition, food intake, energy expenditure, spontaneous rearing activity and sleep patterns and performed behavioral assays for anxiety (open field activity, elevated plus maze [EPM], light/dark exploration), depression (tail suspension and forced swim test), sociability (three-chamber), repetitive (marble burying), learning and memory (fear conditioning), and circadian behavior (wheel-running activity during light-dark and constant dark cycles). We also measured circadian gene expression in hypothalamus and liver at different Zeitgeber times (ZT). Male offspring from separate MLP exposed dams had significantly greater body fat (P = 0.03), less energy expenditure (P = 0.004), less rearing activity (P = 0.04) and a greater number of night-time rest/sleep bouts (P = 0.03) compared to control. MLP offspring displayed greater anxiety-like behavior in the EPM (P<0.01) but had no learning and memory deficit in fear-conditioning assay (P = 0.02). There was an effect of time on Per1, Per 2 and Clock circadian gene expression in the hypothalamus but not on circadian behavior. Thus, transplacental and early developmental exposure of dams to chronic MLP reduces

  12. Effects of maternal dietary EPA and DHA supplementation and breeder age on embryonic and post-hatch performance of broiler offspring: age and n-3 pufa affect embryonic and post-hatch performance.

    Science.gov (United States)

    Koppenol, A; Delezie, E; Wang, Y; Franssens, L; Willems, E; Ampe, B; Buyse, J; Everaert, N

    2015-04-01

    Breeder age and nutrition are amongst the most important factors affecting progeny growth and development. The present experiment was carried out to evaluate the effects of n-3 fatty acid (FA), with special emphasis on the ratio of eicosapentaenoic (EPA, 20:5 n-3) and docosahexaenoic (DHA, 22:6 n-3) acid, provided to the diet of ageing broiler breeder hens at different ratios, on the incubation parameters and the performance of the offspring. Four hundred and eighty Ross-308 broiler breeder hens were fed one of four different diets (120/treatment), with an equal fat content. The control diet was a basal diet, rich in n-6 FAs (CON). Blends of fish oil were used to enrich the three other diets in n-3 FA and to obtain different EPA/DHA ratios of 1/1 (EPA=DHA), 1/2 (DHA) or 2/1 (EPA). Every 5 weeks, incubation parameters were assessed. Every 15 weeks, offspring was reared until slaughter age on a standard diet. Breeder age affected almost all incubation and post-hatch parameters, whereas n-3 FA treatment only lowered egg weight (p diet. DHA supplementation, on the other hand, resulted in a lower residual yolk weight (p = 0.0220) and a higher overall offspring mortality (p = 0.0125). In conclusion, supplementation of n-3 FA could not counter the adverse effect of breeder flock age, but did not harm incubation or improve post-hatch performance, either. EPA and DHA affected offspring development differently during early post-hatch life.

  13. Low dietary protein intake during pregnancy differentially affects mitochondrial copy number in stromal vascular cells from subcutaneous versus visceral adipose tissue in the offspring

    Science.gov (United States)

    The present study examined the influence of protein intake during pregnancy on mitochondrial metabolism in stromal vascular cells from subcutaneous (SVSu) and visceral (SVVi) adipose tissue of offspring fed a high fat diet. Obese-prone Sprague-Dawley rats were fed diets containing either 8% or 20% p...

  14. The scent of stress: environmental challenge in the peripartum environment of mice affects emotional behaviours of the adult offspring in a sex-specific manner.

    Science.gov (United States)

    Lerch, S; Dormann, C; Brandwein, C; Gass, P; Chourbaji, S

    2016-06-01

    Early adverse experiences are known to influence the risk of developing psychiatric disorders later. To shed further light on the development of laboratory mice, we systematically examined the influence of a prenatal or postnatal olfactory stressor, namely unfamiliar male mouse faeces, presented to pregnant or nursing mouse dams. Maternal and offspring behaviours were then examined. Maternal behaviours relative to controls revealed changes in nest building by the pregnant dams exposed to the unfamiliar faeces. There were no differences among groups on pup retrieval or exploration by the dams. Behavioural phenotyping of male and female offspring as adults included measures of exploration, anxiety, social and depressive-like behaviours. Additionally, serum corticosterone was assessed as a marker of physiological stress response. Group differences were dependent on the sex of the adult offspring. Males raised by dams that were stressed during pregnancy presented elevated emotionality as indicated by increased numbers of faecal boluses in the open field paradigm. Consistent with the effects of prenatal stress on the males only the prenatally stressed females had higher body weights than their respective controls. Indeed, males in both experimental groups had higher circulating corticosterone levels. By contrast, female offspring of dams exposed to the olfactory stressor after parturition were more anxious in the O-maze as indicated by increased latencies in entering the exposed areas of the maze. These findings emphasize the necessity for researchers to consider the pre- and postnatal environments, even of mice with almost identical genetic backgrounds, in designing experiments and interpreting their data.

  15. Craniofacial clefting and sutural dystopia.

    Science.gov (United States)

    Moore, M H; Edwards, T J; David, D J

    1991-07-01

    Sutural anomalies in conjunction with craniofacial clefting are unusual. A case of median frontal clefting is presented in which there was an absence of a normal metopic suture and replacement by paramedian frontal sutures. The association of an underlying brain anomaly, with attendant surgical difficulties, is noted, as are the radiological techniques of preoperative diagnosis.

  16. Genetic determinants of facial clefting

    DEFF Research Database (Denmark)

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

    2009-01-01

    BACKGROUND: Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark...

  17. Late detection of cleft palate

    NARCIS (Netherlands)

    Hanny, K H; de Vries, I A C; Haverkamp, S J; Oomen, K P Q; Penris, W M; Eijkemans, M J C; Kon, M; Mink van der Molen, A B; Breugem, C C

    2016-01-01

    Cleft palate only (CPO) is a common congenital malformation, and most patients are diagnosed within the first weeks after birth. Late diagnosis of the cleft palate (CP) could initially result in feeding and growth impairment, and subsequently speech and hearing problems later in life. The purpose of

  18. Cognitive function in adult offspring of women with Type 1 diabetes

    DEFF Research Database (Denmark)

    Clausen, Tine Dalsgaard; Mortensen, E L; Schmidt, L;

    2011-01-01

    Maternal diabetes may affect offspring cognitive function. The objective of the study was to evaluate cognitive function and potential predictors hereof in adult offspring of women with Type 1 diabetes.......Maternal diabetes may affect offspring cognitive function. The objective of the study was to evaluate cognitive function and potential predictors hereof in adult offspring of women with Type 1 diabetes....

  19. The effects of oral clefts on hospital use throughout the lifespan

    Directory of Open Access Journals (Sweden)

    Wehby George L

    2012-03-01

    Full Text Available Abstract Background Oral clefts are one of the most common birth defects worldwide. They require multiple healthcare interventions and add significant burden on the health and quality of life of affected individuals. However, not much is known about the long term effects of oral clefts on health and healthcare use of affected individuals. In this study, we evaluate the effects of oral clefts on hospital use throughout the lifespan. Methods We estimate two-part regression models for hospital admission and length of stay for several age groups up to 68 years of age. The study employs unique secondary population-based data from several administrative inpatient, civil registration, demographic and labor market databases for 7,670 individuals born with oral clefts between 1936 and 2002 in Denmark, and 220,113 individuals without oral clefts from a 5% random sample of the total birth population from 1936 to 2002. Results Oral clefts significantly increase hospital use for most ages below 60 years by up to 233% for children ages 0-10 years and 16% for middle age adults. The more severe cleft forms (cleft lip with palate have significantly larger effects on hospitalizations than less severe forms. Conclusions The results suggest that individuals with oral clefts have higher hospitalization risks than the general population throughout most of the lifespan.

  20. Association of Single Nucleotide Polymorphisms in IRF6 and TGFA Genes With Nonsyndromic Cleft Lip With Or Without Cleft Palate in Chinese Patients

    Institute of Scientific and Technical Information of China (English)

    Ya Shen; Yugui Cu; Weidong Wan; Xiaoping Zhou; Lu Cheng; Zuhong Lu; Jiayin Liu

    2009-01-01

    Objective:Nonsyndromic cleft lip with or without cleft palate(NSCL/P) is a common birth defect with unclear etiology.Both genetic and environmental factors may contribute to NSCL/P.Many genes have been identified as candidate genes associated with this disease.Interferon regulatory factor6(IRF6) gene and transforming growth factor-a(TGFA) gene seem to be cmcial in the predisposition of NSCL/P.Here we evaluated some single nucleotide polymorphisms(SNPs) loci of TGFA and IRF6 genes in Chinese nuclear families consisting of fathers,mothers and affected offspring with NSCL/P.Methods:Fifty patients of NSCL/P were confirmed by the plastic surgeons.They and their parents were included in the study,all with the informed consents.SNPs loci of TGFA and IRF6 genes were analyzed by microarray technology.Some PCR products were randomly chosen and sequenced to check microarray results.The distribution of gene type and allele frequency between patient group and parents group were compared.Then a Haplotype Relative Risk(HRR) and Transmis-sion Disequilibrium Test(TDT) were performed.Results:The sequences of randomly selected PCR products were all consistent with the microarray results.All loci were in Hardy-Weinberg equilibrium.There were no significant differences in the distribution of genotypes and alleles between patients and their parents.Using HRR and TDT analyses the V2741 of IRF6 was associated with NSCL/P,while another SNP locus of IRF6 was not.Strong evidence of linkage disequilibrium was found between the2 SNP loci of TGFA and disease with the HRR analysis,but not with the TDT analysis.Conclusion:Our study confirms the contribution of IRF6 in the etiology of NSCL/P in populations of Asian ancestry.The association of TGFA with NSCL/P requires further research.

  1. CLEFT PALATE. FOUNDATIONS OF SPEECH PATHOLOGY SERIES.

    Science.gov (United States)

    RUTHERFORD, DAVID; WESTLAKE, HAROLD

    DESIGNED TO PROVIDE AN ESSENTIAL CORE OF INFORMATION, THIS BOOK TREATS NORMAL AND ABNORMAL DEVELOPMENT, STRUCTURE, AND FUNCTION OF THE LIPS AND PALATE AND THEIR RELATIONSHIPS TO CLEFT LIP AND CLEFT PALATE SPEECH. PROBLEMS OF PERSONAL AND SOCIAL ADJUSTMENT, HEARING, AND SPEECH IN CLEFT LIP OR CLEFT PALATE INDIVIDUALS ARE DISCUSSED. NASAL RESONANCE…

  2. Molecular basis of cleft palates in mice

    Institute of Scientific and Technical Information of China (English)

    Noriko; Funato; Masataka; Nakamura; Hiromi; Yanagisawa

    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.

  3. The effects of oral clefts on hospital use throughout the lifespan

    DEFF Research Database (Denmark)

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

    2012-01-01

    Oral clefts are one of the most common birth defects worldwide. They require multiple healthcare interventions and add significant burden on the health and quality of life of affected individuals. However, not much is known about the long term effects of oral clefts on health and healthcare use...

  4. Long-term effects of oral clefts on health care utilization

    DEFF Research Database (Denmark)

    Pedersen, Morten Saaby; Wehby, George L; Pedersen, Dorthe Almind

    2015-01-01

    Oral clefts are among the most common birth defects affecting thousands of newborns each year, but little is known about their potential long-term consequences. In this paper, we explore the impact of oral clefts on health care utilization over most of the lifespan. To account for time...

  5. Exposure to a Highly Caloric Palatable Diet during the Perinatal Period Affects the Expression of the Endogenous Cannabinoid System in the Brain, Liver and Adipose Tissue of Adult Rat Offspring

    Science.gov (United States)

    Ramírez-López, María Teresa; Arco, Raquel; Decara, Juan; Vázquez, Mariam; Noemí Blanco, Rosario; Alén, Francisco; Suárez, Juan; Gómez de Heras, Raquel

    2016-01-01

    Recent studies have linked gestational exposure to highly caloric diets with a disrupted endogenous cannabinoid system (ECS). In the present study, we have extended these studies by analyzing the impact of the exposure to a palatable diet during gestation and lactation on a) the adult expression of endocannabinoid-related behaviors, b) the metabolic profile of adult offspring and c) the mRNA expression of the signaling machinery of the ECS in the hypothalamus, the liver and the adipose tissue of adult offspring of both sexes. Exposure to a palatable diet resulted in a) sex-dimorphic and perinatal diet specific feeding behaviors, including the differential response to the inhibitory effects of the cannabinoid receptor inverse agonist AM251, b) features of metabolic syndrome including increased adiposity, hyperleptinemia, hypertriglyceridemia and hypercholesterolemia and c) tissue and sex-specific changes in the expression of both CB1 and CB2 receptors and in that of the endocannabinoid-degrading enzymes FAAH and MAGL, being the adipose tissue the most affected organ analyzed. Since the effects were observed in adult animals that were weaned while consuming a normal diet, the present results indicate that the ECS is one of the targets of maternal programming of the offspring energy expenditure. These results clearly indicate that the maternal diet has long-term effects on the development of pups through multiple alterations of signaling homeostatic pathways that include the ECS. The potential relevance of these alterations for the current obesity epidemic is discussed. PMID:27806128

  6. The Effect of Cleft Lip and Palate, and the Timing of Lip Repair on Mother-Infant Interactions and Infant Development

    Science.gov (United States)

    Murray, Lynne; Hentges, Francoise; Hill, Jonathan; Karpf, Janne; Mistry, Beejal; Kreutz, Marianne; Woodall, Peter; Moss, Tony; Goodacre, Tim

    2008-01-01

    Background: Children with cleft lip and palate are at risk for psychological problems. Difficulties in mother-child interactions may be relevant, and could be affected by the timing of lip repair. Method: We assessed cognitive development, behaviour problems, and attachment in 94 infants with cleft lip (with and without cleft palate) and 96…

  7. Maternal Aerobic Exercise during Pregnancy Can Increase Spatial Learning by Affecting Leptin Expression on Offspring's Early and Late Period in Life Depending on Gender

    Science.gov (United States)

    Dayi, Ayfer; Agilkaya, Sinem; Ozbal, Seda; Cetin, Ferihan; Aksu, Ilkay; Gencoglu, Celal; Cingoz, Sultan; Pekcetin, Cetın; Tugyan, Kazim; Kayatekin, Berkant Muammer; Uysal, Nazan

    2012-01-01

    Maternal exercise during pregnancy has been suggested to exert beneficial effects on brain functions of the offspring. Leptin is an adipocytokine which is secreted from adipose tissues and has positive effects on learning, memory, and synaptic plasticity. In this study, pregnant rats were moderately exercised and we observed the effects of this aerobic exercise on their prepubertal and adult offsprings' spatial learning, hippocampal neurogenesis, and expression of leptin. All the pups whose mothers exercised during pregnancy learned the platform earlier and spent longer time in the target quadrant. Their thigmotaxis times were shorter than those measured in the control group. It is shown that hippocampal CA1, CA3 neuron numbers increased in both prepubertal and adult pups, in addition that GD neuron numbers increased in adult pups. Leptin receptor expression significantly increased in the prepubertal male, adult male, and adult female pups. In our study, maternal running during pregnancy resulted in significant increase in the expression of leptin receptor but not in prepubertal female pups, enhanced hippocampal cell survival, and improved learning memory capability in prepubertal and adult rat pups, as compared to the control group. In conclusion, maternal exercise during pregnancy may regulate spatial plasticity in the hippocampus of the offspring by increasing the expression of leptin. PMID:23028249

  8. Maternal Aerobic Exercise during Pregnancy Can Increase Spatial Learning by Affecting Leptin Expression on Offspring's Early and Late Period in Life Depending on Gender

    Directory of Open Access Journals (Sweden)

    Ayfer Dayi

    2012-01-01

    Full Text Available Maternal exercise during pregnancy has been suggested to exert beneficial effects on brain functions of the offspring. Leptin is an adipocytokine which is secreted from adipose tissues and has positive effects on learning, memory, and synaptic plasticity. In this study, pregnant rats were moderately exercised and we observed the effects of this aerobic exercise on their prepubertal and adult offsprings' spatial learning, hippocampal neurogenesis, and expression of leptin. All the pups whose mothers exercised during pregnancy learned the platform earlier and spent longer time in the target quadrant. Their thigmotaxis times were shorter than those measured in the control group. It is shown that hippocampal CA1, CA3 neuron numbers increased in both prepubertal and adult pups, in addition that GD neuron numbers increased in adult pups. Leptin receptor expression significantly increased in the prepubertal male, adult male, and adult female pups. In our study, maternal running during pregnancy resulted in significant increase in the expression of leptin receptor but not in prepubertal female pups, enhanced hippocampal cell survival, and improved learning memory capability in prepubertal and adult rat pups, as compared to the control group. In conclusion, maternal exercise during pregnancy may regulate spatial plasticity in the hippocampus of the offspring by increasing the expression of leptin.

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

    Science.gov (United States)

    Taware, C P; Kulkarni, S R

    1991-01-01

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

  10. [Cleft lip and palate--problematic cleft speech].

    Science.gov (United States)

    Hortis-Dzierzbicka, M A

    1999-01-01

    The early restoration of facial and palatal morphology in patients with cleft of lip and/or palate provides the anatomical base for good speech outcome. The author gives the up todate overview of the main problems concerning cleft speech, such as velopalatal insufficiency and typical articulation errors. The article describes the modern methods for the evaluation of VPI and current trends in treatment modalities for VPI.

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

    Science.gov (United States)

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

    2015-03-01

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

  12. Oral Clefts and Academic Performance in Adolescence

    DEFF Research Database (Denmark)

    Clausen, Nicola G; Pedersen, Dorthe A; Pedersen, Jacob K

    2017-01-01

    OBJECTIVE:   Early life exposure to anesthesia and surgery is suspected to associate with cognitive impairment later in life. We compared academic achievement among adolescents with cleft lip only (CL), cleft palate only (CP), and cleft lip and cleft palate (CLP) with a noncleft control group to ......:   Oral cleft type rather than number and timing of anesthesia and operations associate to poorer academic performance. Although a potential neurotoxic effect due to anesthetic agents is not reflected in the data, it cannot be completely excluded.......OBJECTIVE:   Early life exposure to anesthesia and surgery is suspected to associate with cognitive impairment later in life. We compared academic achievement among adolescents with cleft lip only (CL), cleft palate only (CP), and cleft lip and cleft palate (CLP) with a noncleft control group...

  13. Cleft lip and Palate: A 30-year Epidemiologic Study in North-East of Iran

    Directory of Open Access Journals (Sweden)

    Hamid Reza Kianifar

    2015-01-01

    Full Text Available Introduction: Cleft lip and palate are among the most common congenital anomalies worldwide. This study was conducted in order to explore the incidence and related factors of cleft lip and/or palate (CL/P among live births in Mashhad, North-Eastern Iran.   Materials and Methods: In this cross-sectional study, records of 28,519 infants born between March 1982 and March 2011 at three major hospitals in Mashhad were screened for oral clefts. Clinical and demographic factors relating to diagnosed cases, including birth date, gender, birth weight, maternal age, number of pregnancies, type and side of cleft and presence of other congenital anomalies were recorded for analysis.   Results: The overall incidence of CL/P was 1.9 per 1,000 live births. Cleft lip associated with cleft palate (CLP was the most prevalent type of cleft (50%, followed by isolated cleft lip         (35.2% and isolated cleft palate (14.8%. A total of 92.6% of oral clefts were bilateral and 5.5% were located on the right side. In addition, clefts were found to be more common in male than female births (male/female ratio=2.3. The rate of associated congenital anomalies in CL/P newborns was 37%. No significant differences were observed in the incidence of oral clefts across three decades of study; except for CLP which was significantly more prevalent between 2002–2011 (P=0.027. There were no significant differences with regard to season of birth, associated anomalies or maternal age of affected newborns in the three time periods of the study. Furthermore, maternal age and number of pregnancies were not significantly different among the three types of cleft (P=0.43 and P=0.91, respectively. Although the mean birth weight of patients affected with isolated cleft palate was considerably lower than that of the other two types of cleft, the difference was not statistically significant (P=0.05.    Conclusion:  This study indicates a frequency of CL/P close to the findings

  14. Dating brittle tectonic movements with cleft monazite

    DEFF Research Database (Denmark)

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

    2013-01-01

    . Deformation events of the area have been subdivided into three steps: (D1) main thrusting including formation of a new schistosity; (D2) dextral transpression; and (D3) local crenulation including a new schistosity. The two younger deformational structures are related to a subvertically oriented intermediate...... phases. This allows the high precision isotope dating of cleft monazite. 232Th/208Pb ages are not affected by excess Pb and yield growth domain ages between 8.03 ± 0.22 Ma and 6.25 ± 0.60 Ma. Monazite crystallization in brittle structures is coeval or younger than 8 Ma zircon fission track data...

  15. Genetic variation in offspring indirectly influences the quality of maternal behaviour in mice.

    Science.gov (United States)

    Ashbrook, David George; Gini, Beatrice; Hager, Reinmar

    2015-12-23

    Conflict over parental investment between parent and offspring is predicted to lead to selection on genes expressed in offspring for traits influencing maternal investment, and on parentally expressed genes affecting offspring behaviour. However, the specific genetic variants that indirectly modify maternal or offspring behaviour remain largely unknown. Using a cross-fostered population of mice, we map maternal behaviour in genetically uniform mothers as a function of genetic variation in offspring and identify loci on offspring chromosomes 5 and 7 that modify maternal behaviour. Conversely, we found that genetic variation among mothers influences offspring development, independent of offspring genotype. Offspring solicitation and maternal behaviour show signs of coadaptation as they are negatively correlated between mothers and their biological offspring, which may be linked to costs of increased solicitation on growth found in our study. Overall, our results show levels of parental provisioning and offspring solicitation are unique to specific genotypes.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1996-09-01

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

  17. Preferential associations between oral clefts and other major congenital anomalies

    NARCIS (Netherlands)

    Rittler, Monica; Lopez-Camelo, Jorge S.; Castilla, Eduardo E.; Bermejo, Eva; Cocchi, Guido; Correa, Adolfo; Csaky-Szunyogh, Melinda; Danderfer, Ron; De Vigan, Catherine; De Walle, Hermien; da Graca Dutra, Maria; Hirahara, Fumiki; Luisa Martinez-Frias, Maria; Merlob, Paul; Mutchinick, Osvaldo; Ritvanen, Annukka; Robert-Gnansia, Elisabeth; Scarano, Gioacchino; Siffel, Csaba; Stoll, Claude; Mastroiacovo, Pierpaolo

    2008-01-01

    Objectives: To identify preferential associations between oral clefts (CL = cleft lip only, CLP = cleft lip with cleft palate, CP = cleft palate) and nonoral cleft anomalies, to interpret them on clinical grounds, and, based on the patterns of associated defects, to establish whether CL and CLP are

  18. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

    Directory of Open Access Journals (Sweden)

    Alexandre R Vieira

    2005-12-01

    Full Text Available Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P occurs in wide geographic distribution with an average birth prevalence of 1/700. We used direct sequencing as an approach to study candidate genes for CL/P. We report here the results of sequencing on 20 candidate genes for clefts in 184 cases with CL/P selected with an emphasis on severity and positive family history. Genes were selected based on expression patterns, animal models, and/or role in known human clefting syndromes. For seven genes with identified coding mutations that are potentially etiologic, we performed linkage disequilibrium studies as well in 501 family triads (affected child/mother/father. The recently reported MSX1 P147Q mutation was also studied in an additional 1,098 cleft cases. Selected missense mutations were screened in 1,064 controls from unrelated individuals on the Centre d'Etude du Polymorphisme Humain (CEPH diversity cell line panel. Our aggregate data suggest that point mutations in these candidate genes are likely to contribute to 6% of isolated clefts, particularly those with more severe phenotypes (bilateral cleft of the lip with cleft palate. Additional cases, possibly due to microdeletions or isodisomy, were also detected and may contribute to clefts as well. Sequence analysis alone suggests that point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated cleft lip with or without cleft palate, and the linkage disequilibrium data support a larger, as yet unspecified, role for variants in or near MSX2, JAG2, and SKI. This study also illustrates the need to test large numbers of controls to distinguish rare polymorphic variants and prioritize functional studies for rare point mutations.

  19. Oral health-related quality of life in children with orofacial clefts.

    Science.gov (United States)

    Ward, Jared A; Vig, Katherine W L; Firestone, Allen R; Mercado, Ana; da Fonseca, Marcio; Johnston, William

    2013-03-01

    Objectives : To determine the impact of orofacial clefts on the oral health-related quality of life of affected children and whether the oral health-related quality of life of children with orofacial clefts differs among different age groups. To assess whether the responses of children with orofacial clefts differ from the caregivers' perceptions of their child's oral health-related quality of life and compare with data from a control group. Design : Cross-sectional study. Patients/Setting : A total of 75 subjects with cleft lip and/or cleft palate (mean age, 13.0 years) from the Nationwide Children's Hospital Craniofacial Anomalies Clinic, as well as their caregivers, and 75 control subjects (mean age, 13.9 years). Main Outcome Measure : Self-reported oral health-related quality of life measured with the Child Oral Health Impact Profile, a reliable and valid questionnaire designed for use with children and teenagers. Results : Children with orofacial clefts had statistically significant lower quality of life scores than control subjects had for overall oral health-related quality of life, Functional Well-being, and Social Emotional Well-being. There was a statistically significant difference in the interaction of age group and Social-Emotional Well-being between children with orofacial clefts and control children. No statistically significant differences were found between the responses of children with orofacial clefts and their caregivers' reports. Conclusions : Presence of an orofacial cleft significantly decreases overall oral health-related quality of life, Functional Well-being, and Social-Emotional Well-being in children and adolescents. The negative impact of orofacial clefts on Social-Emotional Well-being is greater in 15- to 18-year-olds than in younger age groups. Children with orofacial clefts and their caregivers had very similar evaluations of the child's oral health-related quality of life.

  20. Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate.

    Directory of Open Access Journals (Sweden)

    2005-12-01

    Full Text Available Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P occurs in wide geographic distribution with an average birth prevalence of 1/700. We used direct sequencing as an approach to study candidate genes for CL/P. We report here the results of sequencing on 20 candidate genes for clefts in 184 cases with CL/P selected with an emphasis on severity and positive family history. Genes were selected based on expression patterns, animal models, and/or role in known human clefting syndromes. For seven genes with identified coding mutations that are potentially etiologic, we performed linkage disequilibrium studies as well in 501 family triads (affected child/mother/father. The recently reported MSX1 P147Q mutation was also studied in an additional 1,098 cleft cases. Selected missense mutations were screened in 1,064 controls from unrelated individuals on the Centre d'Etude du Polymorphisme Humain (CEPH diversity cell line panel. Our aggregate data suggest that point mutations in these candidate genes are likely to contribute to 6% of isolated clefts, particularly those with more severe phenotypes (bilateral cleft of the lip with cleft palate. Additional cases, possibly due to microdeletions or isodisomy, were also detected and may contribute to clefts as well. Sequence analysis alone suggests that point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated cleft lip with or without cleft palate, and the linkage disequilibrium data support a larger, as yet unspecified, role for variants in or near MSX2, JAG2, and SKI. This study also illustrates the need to test large numbers of controls to distinguish rare polymorphic variants and prioritize functional studies for rare point mutations.

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

    Science.gov (United States)

    McDonald, Eugene T.; Berlin, Asa J.

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

  2. Options for the nasal repair of non-syndromic unilateral Tessier no. 2 and 3 facial clefts

    Directory of Open Access Journals (Sweden)

    Srinivas Gosla Reddy

    2014-01-01

    Full Text Available Background: Non-syndromic Tessier no. 2 and 3 facial clefts primarily affect the nasal complex. The anatomy of such clefts is such that the ala of the nose has a cleft. Repairing the ala presents some challenges to the surgeon, especially to correct the shape and missing tissue. Various techniques have been considered to repair these cleft defects. Aim: We present two surgical options to repair such facial clefts. Materials and Methods: A nasal dorsum rotational flap was used to treat patients with Tessier no. 2 clefts. This is a local flap that uses tissue from the dorsal surface of the nose. The advantage of this flap design is that it helps move the displaced ala of a Tessier no. 2 cleft into its normal position. A forehead-eyelid-nasal transposition flap design was used to treat patients with Tessier no. 3 clefts. This flap design includes three prongs that are rotated downward. A forehead flap is rotated into the area above the eyelid, the flap from above the eyelid is rotated to infra-orbital area and the flap from the infraorbital area that includes the free nasal ala of the cleft is rotated into place. Results and Conclusions: These two flap designs show good results and can be used to augment the treatment options for repairing Tessier no. 2 and 3 facial clefts.

  3. Enamel defects in permanent first molars and incisors in individuals with cleft lip and/or palate

    Directory of Open Access Journals (Sweden)

    Vivian Patricia Saldias-Vargas

    2014-10-01

    Full Text Available Background. Enamel defects are common in deciduous and permanent maxillary incisors of individuals with lip and palate cleft, and their occurrence has been associated with the cleft, especially when the alveolus is affected. Objective. To compare the prevalence of enamel defects in permanent maxillary and mandibular central incisors and first molars of individuals with cleft lip and palate, cleft palate, and without clefts. Materials and methods. The study analyzed the case of 150 individuals -50 with cleft lip and palate, 50 with cleft palate and 50 without clefts-, of both genders and aged 6 to 12 years. The frequency, extent, and location of enamel alterations on the buccal aspect of teeth were evaluated by the modified DDE index. Results. There was a greater manifestation of enamel defects in maxillary incisors and molars in groups with clefts, with statistically significant difference compared with the noncleft group. Conclusions. The occurrence of enamel defects was common in permanent incisors and molars and was significantly associated with clefts.

  4. Understanding Cleft and Craniofacial Team Care

    Science.gov (United States)

    ... 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 States: ...

  5. New insights from GWAS for the cleft palate among han Chinese population

    Science.gov (United States)

    Duan, Shi-Jun; Huang, Ning; Zhang, Bi-He; Shi, Jia-Yu; He, Sha; Ma, Jian; Yu, Qiong-Qiong; Shi, Bing

    2017-01-01

    Background Genome wide association studies (GWAS) already have identified tens of susceptible loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). However, whether these loci associated with nonsyndromic cleft palate only (NSCPO) remains unknown. Material and Methods In this study, we replicated 38 SNPs (Single nucleotide polymorphisms) which has the most significant p values in published GWASs, genotyping by using SNPscan among 144 NSCPO trios from Western Han Chinese. We performed the transmission disequilibrium test (TDT) on individual SNPs and gene-gene (GxG) interaction analyses on the family data; Parent-of-Origin effects were assessed by separately considering transmissions from heterozygous fathers versus heterozygous mothers to affected offspring. Results Allelic TDT results showed that T allele at rs742071 (PAX7) (p=0.025, ORtransmission=3.00, 95%CI: 1.09-8.25) and G allele at rs2485893 (10kb 3’ of SYT14) were associated with NSCPO (p=0.0036, ORtransmission= 0.60, 95%CI: 0.42-0.85). Genotypic TDT based on 3 pseudo controls further confirmed that rs742071 (p-value=0.03, ORtransmission=3.00, 95%CI: 1.09-8.25) and rs2485893 were associated with NSCPO under additive model (p-value= 0.02, ORtransmission= 0.66, 95%CI: 0.47-0.92). Genotypic TDT for epistatic interactions showed that rs4844913 (37kb 3’ of DIEXF) interacted with rs11119388 (SYT14) (p-value=1.80E-08) and rs6072081 (53kb 3’ of MAFB) interacted with rs6102085 (33kb 3’ of MAFB) (p-value=3.60E-04) for NSCPO, suggesting they may act in the same pathway in the etiology of NSCPO. Conclusions In this study, we found that rs742071 and rs2485893 were associated NSCPO from Han Chinese population; also, interactions of rs4844913:rs11119388 and rs6072081:rs6102085 for NSCPO were identified, gene-gene interactions have been proposed as a potential source of the remaining heritability, these findings provided new insights of the previous GWAS. Key words:GWAS, NSCPO, TDT, parent

  6. Comparison of periodontal status among patients with cleft lip, cleft palate, and cleft lip along with a cleft in palate and alveolus

    OpenAIRE

    Boloor Vinita; Thomas Biju

    2010-01-01

    Background and Objectives : A healthy periodontium is an important prerequisite for unhindered dentition and long-term oral health. In cleft subjects, especially in those with cleft lip, alveolus and palate (CLAP), maintenance of oral hygiene is a difficult task for the patients because of the patent oro-nasal communication. Crowding of teeth in cleft patients is a common finding, especially in those with CLAP and those with cleft palate (CP). In the case of multiple tooth-malpositions , tran...

  7. In utero exposure of mice to diesel exhaust particles affects spatial learning and memory with reduced N-methyl-D-aspartate receptor expression in the hippocampus of male offspring.

    Science.gov (United States)

    Yokota, Satoshi; Sato, Akira; Umezawa, Masakazu; Oshio, Shigeru; Takeda, Ken

    2015-09-01

    Diesel exhaust consists of diesel exhaust particles (DEPs) and gaseous compounds. Previous studies reported that in utero exposure to diesel exhaust affects the central nervous system. However, there was no clear evidence that these effects were caused by diesel exhaust particles themselves, gaseous compounds, or both. Here, we explored the effects of in utero exposure to DEPs on learning and memory in male ICR mice. DEP solutions were administered subcutaneously to pregnant ICR mice at a dose of 0 or 200 μg/kg body weight on gestation days 6, 9, 12, 15, and 18. We examined learning and memory in 9-to-10-week-old male offspring using the Morris water maze test and passive avoidance test. Immediately after the behavioral tests, hippocampi were isolated. Hippocampal N-methyl-D-aspartate receptor (NR) expression was also measured by quantitative RT-PCR analysis. Mice exposed to DEPs in utero showed deficits in the Morris water maze test, but their performance was not significantly different from that of control mice in the passive avoidance test. In addition, DEP-exposed mice exhibited decreased hippocampal NR2A expression. The present results indicate that maternal DEP exposure disrupts learning and memory in male offspring, which is associated with reduced hippocampal NR2A expression.

  8. [Team management of orofacial clefts].

    Science.gov (United States)

    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.

  9. Cleft lip: The historical perspective

    Directory of Open Access Journals (Sweden)

    Bhattacharya S

    2009-10-01

    Full Text Available 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 Traite and Traite des Hernies in which he described the condition as "lievre fendu de nativite" (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.

  10. Antagonistic parent-offspring co-adaptation.

    Directory of Open Access Journals (Sweden)

    Mathias Kölliker

    Full Text Available BACKGROUND: In species across taxa, offspring have means to influence parental investment (PI. PI thus evolves as an interacting phenotype and indirect genetic effects may strongly affect the co-evolutionary dynamics of offspring and parental behaviors. Evolutionary theory focused on explaining how exaggerated offspring solicitation can be understood as resolution of parent-offspring conflict, but the evolutionary origin and diversification of different forms of family interactions remains unclear. METHODOLOGY/PRINCIPAL FINDINGS: In contrast to previous theory that largely uses a static approach to predict how "offspring individuals" and "parental individuals" should interact given conflict over PI, we present a dynamic theoretical framework of antagonistic selection on the PI individuals obtain/take as offspring and the PI they provide as parents to maximize individual lifetime reproductive success; we analyze a deterministic and a stochastic version of this dynamic framework. We show that a zone for equivalent co-adaptation outcomes exists in which stable levels of PI can evolve and be maintained despite fast strategy transitions and ongoing co-evolutionary dynamics. Under antagonistic co-adaptation, cost-free solicitation can evolve as an adaptation to emerging preferences in parents. CONCLUSIONS/SIGNIFICANCE: We show that antagonistic selection across the offspring and parental life-stage of individuals favors co-adapted offspring and parental behavior within a zone of equivalent outcomes. This antagonistic parent-offspring co-adaptation does not require solicitation to be costly, allows for rapid divergence and evolutionary novelty and potentially explains the origin and diversification of the observed provisioning forms in family life.

  11. Oral cleft prevention program (OCPP

    Directory of Open Access Journals (Sweden)

    Wehby George L

    2012-11-01

    Full Text Available Abstract 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

  12. TAR syndrome with orofacial clefting.

    Science.gov (United States)

    Midro, A; Hubert, E; Preferansow, J; Iwaszkiewicz-Pawłowska, A

    1993-01-01

    A case of TAR syndrome with bilateral cleft lip and palate is presented. Bilateral symmetric focomelia, normal thumbs among five fingers of hands, synostosis of IVth and Vth metacarpal bones and some defects of lower limbs with associated thrombocytopenia were noted. Dysmorphic facial features included hypertelorism, epicanthus, blue sclerae, broad nasal root, micrognathia, low-set ears, sparse blond hair. To our knowledge this patient represents an unusual association of TAR syndrome with orofacial clefting. A common background of TAR and Roberts/SC syndrome is suggested.

  13. Pesticides used in cotton production affect reproductive development, endocrine regulation, liver status and offspring fitness in African catfish Clarias gariepinus (Burchell, 1822).

    Science.gov (United States)

    Agbohessi, Prudencio T; Toko, Ibrahim I; Atchou, Vincent; Tonato, Roland; Mandiki, S N M; Kestemont, Patrick

    2015-01-01

    We exposed African catfish Clarias gariepinus from embryo-larvae stage to adult stage (13 months old, BW) to chronic doses of Tihan 175 O-TEQ and endosulfan (Thionex) and assessed the impact of this exposure on endocrine regulation, liver status and offspring fitness. Endosulfan exposure caused a significant increase in plasma estradiol-17β (E2) and decreased plasma testosterone (T) but not 11 ketotestosterone (11-KT). Tihan decreased significantly plasma E2 and 11-KT, but not T. Endosulfan doses altered gonad histology and induced high proportions (18–30% of males) of ovotestis in males and follicular atretic oocytes in females, indicating occurrence of feminization in fish. Tihan also altered gonad histology but only one case of ovotestis was observed at the highest dose. Presence of foam cells in lobular lumen, fibrosis, necrosis, and immature cells released in lobular lumen were found in male gonads and melano-macrophage centers (MMCs), necrosis, fibrosis and vacuolation were observed in female gonads. Fish livers also suffered injuries such as MMCs, necrosis, fibrosis, vacuolation, dilatation of sinusoids, and nuclear pleomorphism. Chronic Tihan and Thionex exposures decreased fertilization rate, hatching rate, ova and larval weight, as well as larval resistance to osmotic choc. They also delayed hatching and increased abnormalities in the F1 generation, all these indicators suggesting transgenerational effects of these compounds.

  14. Percutaneous balloon kyphoplasty of osteoporotic vertebral compression fractures with intravertebral cleft

    Directory of Open Access Journals (Sweden)

    Bao Chen

    2014-01-01

    Full Text Available Background: Intravertebral cleft is a structural change in osteoporotic vertebral compression fractures (OVCF, which is the manifestation of ischemic vertebral osteonecrosis complicated with fracture nonunion and pseudoarthrosis and appears in the late stage of OVCF. Despite numerous studies on OVCF, few aim to evaluate the clinicoradiological characteristics and clinical significance of intravertebral cleft in OVCF. This study investigates clinicoradiological characteristics of intravertebral cleft in OVCF and the effect on the efficacy of percutaneous balloon kyphoplasty (PKP. Materials and Methods: PKP was performed on 139 OVCF patients without intravertebral cleft (group A and 44 OVCF patients with intravertebral cleft (group B. The frequency distribution of the affected vertebral body, bone cement infusion volume, imaging manifestation, leakage rate and type, preoperative and postoperative height of the affected vertebral body, visual analog scale (VAS and Oswestry disability index (ODI score were evaluated. Results: Significant differences were found in the frequency distribution of the affected vertebral body and bone cement leakage type between the two groups ( P 0.05 were not detected. In both groups, the postoperative height of the affected vertebral body was significantly improved ( P 0.05. Conclusion: Intravertebral cleft exhibits specific clinical and imaging as well as bone cement formation characteristics. PKP can effectively restore the affected vertebral body height, alleviate pain, and improve daily activity function of patients.

  15. Simulating clefts in pumpkin balloons

    Science.gov (United States)

    Baginski, Frank; Brakke, Kenneth

    2010-02-01

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

  16. Management of the Amniotic Band Syndrome with Cleft Palate: Literature Review and Report of a Case

    Science.gov (United States)

    Cortez-Ortega, Carolina; Flores-Velázquez, Joselín; Ruiz-Rodríguez, Socorro; Noyola-Frías, Miguel Ángel; Santos-Díaz, Miguel Ángel

    2017-01-01

    Amniotic Band Syndrome (ABS) is a group of congenital malformations that includes the majority of typical constriction rings and limb and digital amputations, together with major craniofacial, thoracic, and abdominal malformations. The syndrome is caused by early rupture of the amniotic sac. Some of the main oral manifestations include micrognathia, hyperdontia, and cleft lip with or without cleft palate, which is present in 14.6% of patients with this syndrome. The purpose of this report was to describe the clinical characteristics and the oral treatment provided to a 6-month-old male patient affected with ABS with cleft lip and palate. PMID:28246561

  17. Cues of maternal condition influence offspring selfishness.

    Directory of Open Access Journals (Sweden)

    Janine W Y Wong

    Full Text Available The evolution of parent-offspring communication was mostly studied from the perspective of parents responding to begging signals conveying information about offspring condition. Parents should respond to begging because of the differential fitness returns obtained from their investment in offspring that differ in condition. For analogous reasons, offspring should adjust their behavior to cues/signals of parental condition: parents that differ in condition pay differential costs of care and, hence, should provide different amounts of food. In this study, we experimentally tested in the European earwig (Forficula auricularia if cues of maternal condition affect offspring behavior in terms of sibling cannibalism. We experimentally manipulated female condition by providing them with different amounts of food, kept nymph condition constant, allowed for nymph exposure to chemical maternal cues over extended time, quantified nymph survival (deaths being due to cannibalism and extracted and analyzed the females' cuticular hydrocarbons (CHC. Nymph survival was significantly affected by chemical cues of maternal condition, and this effect depended on the timing of breeding. Cues of poor maternal condition enhanced nymph survival in early broods, but reduced nymph survival in late broods, and vice versa for cues of good condition. Furthermore, female condition affected the quantitative composition of their CHC profile which in turn predicted nymph survival patterns. Thus, earwig offspring are sensitive to chemical cues of maternal condition and nymphs from early and late broods show opposite reactions to the same chemical cues. Together with former evidence on maternal sensitivities to condition-dependent nymph chemical cues, our study shows context-dependent reciprocal information exchange about condition between earwig mothers and their offspring, potentially mediated by cuticular hydrocarbons.

  18. Demographics of orofacial clefts in Canada from 2002 to 2008.

    Science.gov (United States)

    Pavri, Sabrina; Forrest, Christopher R

    2013-03-01

    Objective : Orofacial clefts such as cleft lip, cleft palate, and cleft lip and palate are the most frequent congenital anomalies of the head and neck. The purpose of this study was to determine the current demographics for orofacial clefts in Canada. Methods : A request for data from all Canadian provinces (excluding Quebec due to incompatibilities with provincial coding systems) for the fiscal years 2002-2003 to 2007-2008 was submitted to the Canadian Institute for Health Information. Variables evaluated included gender, cleft type, gestational age, birth weight, income quintile, and institution health region. Results : Over the period studied, the prevalence of orofacial clefts ranged from 11.0 to 15.3 per 10,000 live births (1 in 654 to 1 in 909 live births). The distribution of cleft types for live births with orofacial clefts was 17% for cleft lip, 41% for cleft palate, and 42% for cleft lip and palate, of which cleft lip and cleft lip and palate were male dominant (62% and 66% male, respectively) and cleft palate was female dominant (56% female). Saskatchewan and Manitoba had significantly higher cleft birthrates (P orofacial clefting compared with those with no cleft. Conclusions : Canada has one of the highest orofacial cleft birthrates in the world (prevalence of 12.7 per 10,000 live births, approximately 1 in 790 live births). This study presents an updated demographic of orofacial clefts in Canadian newborns and may be useful in predicting the burden of anticipated health care.

  19. Incidence of Cleft Lip and Palate in Uganda

    NARCIS (Netherlands)

    Dreise, Marieke; Galiwango, George; Hodges, Andrew

    2011-01-01

    Objective: The purpose of the study was to estimate the need for resources for cleft repairs in Uganda by determining the overall incidence of oral-facial clefts and the ratio of isolated cleft lip to isolated cleft palate to cleft lip and palate. Design: A 1-year prospective study was implemented i

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

    NARCIS (Netherlands)

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

    2011-01-01

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

  1. Comparison of periodontal status among patients with cleft lip, cleft palate, and cleft lip along with a cleft in palate and alveolus

    Directory of Open Access Journals (Sweden)

    Boloor Vinita

    2010-01-01

    Full Text Available Background and Objectives : A healthy periodontium is an important prerequisite for unhindered dentition and long-term oral health. In cleft subjects, especially in those with cleft lip, alveolus and palate (CLAP, maintenance of oral hygiene is a difficult task for the patients because of the patent oro-nasal communication. Crowding of teeth in cleft patients is a common finding, especially in those with CLAP and those with cleft palate (CP. In the case of multiple tooth-malpositions , transverse deficiency, arch length deficiency and primary cross-bite; periodontal trauma increases and is detrimental to periodontal health . According to literature, a critical periodontal situation was found in patients with CLAP. Hence a study was conducted to analyze the periodontal status of patients with cleft lip (CL; those with cleft palate; and those with cleft lip, alveolus and palate. Materials and Methods: The present study consisted of 60 cleft subjects divided into 3 groups: those with cleft lip; those with cleft palate; and those with cleft lip, alveolus and palate. Subjects with permanent dentition were selected, and the clinical examination included determination of oral hygiene status using Oral Hygiene Index - Simplified (OHI-S index and periodontal status using community periodontal index (CPI. Results: Statistically significant increase in the periodontal disease in the CLAP group as compared with the other 2 groups, and the oral hygiene was seen to be generally poor with the CLAP group. Interpretation and Conclusion: Individuals with clefts are more prone to periodontal disease due to the presence of cleft, which causes retention of food in the defect sites and inability to maintain good oral hygiene; but the severity of periodontal disease is more if the defect is large and involving the lip, alveolus and palate.

  2. Maternal exposure to 3,3'-iminodipropionitrile targets late-stage differentiation of hippocampal granule cell lineages to affect brain-derived neurotrophic factor signaling and interneuron subpopulations in rat offspring.

    Science.gov (United States)

    Itahashi, Megu; Abe, Hajime; Tanaka, Takeshi; Mizukami, Sayaka; Kikuchihara, Yoh; Yoshida, Toshinori; Shibutani, Makoto

    2015-08-01

    3,3'-Iminodipropionitrile (IDPN) causes neurofilament (NF)-filled swellings in the proximal segments of many large-caliber myelinated axons. This study investigated the effect of maternal exposure to IDPN on hippocampal neurogenesis in rat offspring using pregnant rats supplemented with 0 (controls), 67 or 200 ppm IDPN in drinking water from gestational day 6 to day 21 after delivery. On postnatal day (PND) 21, female offspring subjected to analysis had decreased parvalbumin(+), reelin(+) and phospho-TrkB(+) interneurons in the dentate hilus at 200 ppm and increased granule cell populations expressing immediate-early gene products, Arc or c-Fos, at ≥  67 ppm. mRNA expression in the dentate gyrus examined at 200 ppm decreased with brain-derived neurotrophic factor (Bdnf) and very low density lipoprotein receptor. Immunoreactivity for phosphorylated NF heavy polypeptide decreased in the molecular layer of the dentate gyrus and the stratum radiatum of the cornu ammonis (CA) 3, portions showing axonal projections from mossy cells and pyramidal neurons, at 200 ppm on PND 21, whereas immunoreactivity for synaptophysin was unchanged in the dentate gyrus. Observed changes all disappeared on PND 77. There were no fluctuations in the numbers of apoptotic cells, proliferating cells and subpopulations of granule cell lineage in the subgranular zone on PND 21 and PND 77. Thus, maternal IDPN exposure may reversibly affect late-stage differentiation of granule cell lineages involving neuronal plasticity as evident by immediate-early gene responses to cause BDNF downregulation resulting in a reduction in parvalbumin(+) or reelin(+) interneurons and suppression of axonal plasticity in the mossy cells and CA3 pyramidal neurons.

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

    DEFF Research Database (Denmark)

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

    2009-01-01

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

  4. Genetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities.

    Science.gov (United States)

    Beaty, Terri H; Marazita, Mary L; Leslie, Elizabeth J

    2016-01-01

    Orofacial clefts include cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), which combined represent the largest group of craniofacial malformations in humans with an overall prevalence of one per 1,000 live births. Each of these birth defects shows strong familial aggregation, suggesting a major genetic component to their etiology. Genetic studies of orofacial clefts extend back centuries, but it has proven difficult to define any single etiologic mechanism because many genes appear to influence risk. Both linkage and association studies have identified several genes influencing risk, but these differ across families and across populations. Genome-wide association studies have identified almost two dozen different genes achieving genome-wide significance, and there are broad classes of 'causal genes' for orofacial clefts: a few genes strongly associated with risk and possibly directly responsible for Mendelian syndromes which include orofacial clefts as a key phenotypic feature of the syndrome, and multiple genes with modest individual effects on risk but capable of disrupting normal craniofacial development under the right circumstances (which may include exposure to environmental risk factors). Genomic sequencing studies are now underway which will no doubt reveal additional genes/regions where variants (sequence and structural) can play a role in controlling risk to orofacial clefts. The real challenge to medicine and public health is twofold: to identify specific genes and other etiologic factors in families with affected members and then to devise effective interventions for these different biological mechanisms controlling risk to complex and heterogeneous birth defects such as orofacial clefts.

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

    Science.gov (United States)

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

  6. Laryngo-tracheo-oesophageal clefts

    Directory of Open Access Journals (Sweden)

    Leboulanger Nicolas

    2011-12-01

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

  7. Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study

    Directory of Open Access Journals (Sweden)

    Cornel Martina C

    2010-07-01

    Full Text Available Abstract Background The offspring of consanguineous relations have an increased risk of congenital/genetic disorders and early mortality. Consanguineous couples and their offspring account for approximately 10% of the global population. The increased risk for congenital/genetic disorders is most marked for autosomal recessive disorders and depends on the degree of relatedness of the parents. For children of first cousins the increased risk is 2-4%. For individual couples, however, the extra risk can vary from zero to 25% or higher, with only a minority of these couples having an increased risk of at least 25%. It is currently not possible to differentiate between high-and low-risk couples. The quantity of DNA identical-by-descent between couples with the same degree of relatedness shows a remarkable variation. Here we hypothesize that consanguineous partners with children affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related partners who have only healthy children. The aim of the study is thus to establish whether the amount of DNA identical-by-descent in consanguineous parents of children with an autosomal recessive disease is indeed different from its proportion in consanguineous parents who have healthy children only. Methods/Design This project is designed as a case-control study. Cases are defined as consanguineous couples with one or more children with an autosomal recessive disorder and controls as consanguineous couples with at least three healthy children and no affected child. We aim to include 100 case couples and 100 control couples. Control couples are matched by restricting the search to the same family, clan or ethnic origin as the case couple. Genome-wide SNP arrays will be used to test our hypothesis. Discussion This study contains a new approach to risk assessment in consanguineous couples. There is no previous study on the amount of DNA identical-by-descent in consanguineous

  8. Face facts: Genes, environment, and clefts

    Energy Technology Data Exchange (ETDEWEB)

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

    1995-08-01

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

  9. Genetics Home Reference: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

    Science.gov (United States)

    ... Home Health Conditions AEC syndrome ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Enable Javascript to view the expand/ ... mouth (a cleft palate ), a split in the lip (a cleft lip ), or both. Cleft lip or cleft palate ...

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

    Science.gov (United States)

    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.

  11. Improving Informed Consent for Cleft Palate Repair

    Science.gov (United States)

    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

  12. Second type of first branchial cleft anomaly

    Directory of Open Access Journals (Sweden)

    Hitesh Verma

    2016-01-01

    Full Text Available First branchial cleft fistula is a rare congenital malformation of the head and neck with an incidence of <8% of all branchial cleft defects. The patient presenting with discharging sinus in the neck with discharging ear should be investigated for a possible branchial cleft anomaly. Rarity and diverse presentation often lead to misdiagnosis and inadequate treatment. Recurrent infection and scarring make intraoperative identification of facial nerve made very difficult. We report a case of a 5-year-old boy with a first branchial cleft fistula, in which discharge was observed through the fistulous opening on the right side of the face and along the ear canal.

  13. Surgical correction of cleft lip and palate.

    Science.gov (United States)

    Jayaram, Rahul; Huppa, Christoph

    2012-01-01

    Surgical cleft repair aims to restore function of the oro-nasal sphincter and oro-nasal soft tissues and re-establish the complex relationship between perioral and perinasal muscle rings without compromising subsequent mid-facial growth and development. Here we review the surgical anatomy of this region, optimal timing for surgical repair and current thinking on the use of surgical adjuncts. In addition, an overview of current surgical techniques available for the repair of cleft lip, cleft palate and velopharyngeal insufficiency is presented. Finally, we briefly discuss nasal revision surgery and the use of osteotomy, including distraction osteogenesis in the cleft patient.

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

    Directory of Open Access Journals (Sweden)

    Azimi C

    2010-02-01

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

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

    DEFF Research Database (Denmark)

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

    2014-01-01

    , radiographs, dental casts, and medical records. PATIENTS: Ninety individuals (30 cleft lip, 30 cleft palate, and 30 combined cleft lip and palate), aged 5-27 years. MAIN OUTCOME MEASURES: Visual evaluation of tooth number and tooth morphology. RESULTS: Cleft lip: Dental deviations were predominantly observed...... in the frontonasal field. Supernumerary lateral incisors occurred significantly more often in cleft lip compared to other cleft types. Cleft palate: Dental deviations were observed in the maxillary and palatal fields indicating that both fields are involved in the development of cleft palate. Malformed roots were...... seen significantly more often in cleft palate. Combined cleft lip and palate: Number and type of dental deviations differed significantly from deviations in other cleft types, e.g. significantly more ageneses. CONCLUSIONS: Cleft lip seems to be caused by a disorder in neural crest migration...

  16. ALTERNATIVE APPROACH IN THE TREATMENT OF A GINGIVAL CLEFT ASSOCIATED WITH LABIAL FRENULUM. A 3-YEAR FOLLOW-UP. (Case Report)

    OpenAIRE

    Kamen Kotsilkov; Teodora Nedialkova

    2015-01-01

    INTRODUCTION: The term Gingival cleft refers to a fissure in the gingival tissues and is usually caused by traumatic oral hygiene, abnormal frenula, trauma from occlusion, orthodontic, or pierce related trauma. Gingival clefts are classified depending on the extent of the inclusion of the gingival thickness into red and white. The recommended treatment approach for the incomplete white clefts is the gingivectomy of the affected keratinized tissue followed by a coronally adva...

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

    Directory of Open Access Journals (Sweden)

    Schmelzle Rainer

    2011-01-01

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

  18. Parental psychiatric hospitalisation and offspring schizophrenia

    DEFF Research Database (Denmark)

    Sørensen, Holger J; Mortensen, Erik L; Reinisch, June M

    2009-01-01

    The risk of schizophrenia has been linked with a family history of schizophrenia and less strongly with other psychiatric disorders in family members. Using data from the Copenhagen Perinatal Cohort and from the Danish Psychiatric Case Register, we studied the relationship between offspring risk...... of schizophrenia and a range of psychotic and non-psychotic psychiatric diagnoses in parents. Psychiatric admission data after 1969 were available for 7047 cohort members born between 1959 and 1961, and for 7006 mothers and 6993 fathers. Univariate analysis showed that neurosis, alcohol and substance dependence...... in both parents were associated with elevated risk of offspring schizophrenia; in addition, maternal schizophrenia, affective disorder and personality disorder were associated with elevated risk. Controlling for parental age, parental social status, and parental psychiatric co-diagnosis, offspring risk...

  19. Dental materials for cleft palate repair.

    Science.gov (United States)

    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.

  20. Sub mucous cleft palate with fenestration

    OpenAIRE

    Shah, Sheerin; Garg, Ramneesh; Uppal, Sanjeev K.; Mittal, Rajinder K.

    2014-01-01

    Congenital fenestration in sub mucous cleft palate is not a common identity. This patient is a 16-year-old female who presented with nasal speech. On examination, she had associated microform cleft lip with nasal deformity. Successful palatoplasty with intra velar veloplasty was done.

  1. Invariant properties of representations under cleft extensions

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    The main aim of this paper is to give the invariant properties of representations of algebras under cleft extensions over a semisimple Hopf algebra. Firstly, we explain the concept of the cleft extension and give a relation between the cleft extension and the crossed product which is the approach we depend upon. Then, by making use of them, we prove that over an algebraically closed field k, for a finite dimensional Hopf algebra H which is semisimple as well as its dual H*, the representation type of an algebra is an invariant property under a finite dimensional H-cleft extension . In the other part, we still show that over an arbitrary field k, the Nakayama property of a k-algebra is also an invariant property under an H -cleft extension when the radical of the algebra is H-stable.

  2. Six years analysis of cleft palate in a university hospital center

    Directory of Open Access Journals (Sweden)

    Farahvash M

    1999-08-01

    Full Text Available Cleft palate is a congenital condition that occurs with the incidence rate of one out of 2000 births. This anomaly produces intraoral pressure changes (increase or decrease, can cause speech, sucking and feeding problems of involved patient. On the other hand, if cleft palate is associated with cleft of the lip or alveolar area, growth and alignment of teeth may change the appearance of the patient and affect the psychologic and occupational future of the patient. Eustatian tube malfunction in involved neonates increase. Many procedures are used to repair the cleft palate and correction of palatal muscles which are: 1 Von Langenbeck (18.5%. 2 Veau-Wardil-Kilner (72.5%. 3 Double opposing Z-Plasty (9%. In this research the demographic criteria of patients including age of the patient at operation rime (mean age 30.14 months, city of residence, family history of cleft palate (12.4%, familial relation of parents (15.2%, associated anomalies, complete or incomplete lesion, weight of patients at the time of surgery (mean 11.28 Kg, hemoglobin (11.3 mg/dl, complications, otitis media and the side of cleft palate are studied in 178 admitted patients to Imam General Hospital between 1989 and 1995.

  3. Cleft lip and palate: Parental experiences of stigma, discrimination, and social/structural inequalities

    Science.gov (United States)

    Adeyemo, Wasiu Lanre; James, Olutayo; Butali, Azeez

    2016-01-01

    Background: Cleft lip and palate (CLP) are the most common craniofacial birth impairment and one of the most common congenital impairments in humans. Anecdotal evidence suggests that stigmatization, discrimination, and sociocultural inequalities are common “phenomenon” experienced by families of children with CLP in Nigeria. This study aimed to explore the stigmatization, discrimination, and sociocultural inequalities experiences of families with children born with CLP. Materials and Methods: The study was carried out at the surgical outpatient cleft clinic of the Lagos University Teaching Hospital, Lagos, Nigeria. This was a cross-sectional descriptive study among mothers of children born with CLP, using both interviewer-administered questionnaire and a semi-structured interview. Results: A total of 51 mothers of children with cleft lip and/or palate participated in the study. 35.3% of respondents believed cleft was an “act of God,” whereas others believed it was either due to “evil spirit” (5.9%), “wicked people” (9.8%). Seventy-three percent of the mothers were ashamed of having a child with orofacial cleft. Two of the respondents wanted to abandon the baby in the hospital. About a quarter of the respondent wished the child was never born and 59% of the fathers were ashamed of the facial cleft. Fifty-one percent admitted that their relatives were ashamed of the orofacial cleft, and 65% admitted that their friends were ashamed of the cleft. In addition, 22% of the respondents admitted that they have been treated like an outcast by neighbors, relatives, and friends because of the cleft of their children. When asked about refusal to carry the affected children by friends, relatives, and neighbors, 20% of respondents said “Yes.” Conclusions: Myths surrounding the etiology of orofacial cleft are prevalent in Nigeria. Parents and individuals with CLP experience stigma as well as social and structural inequalities due to societal perceptions and

  4. X-linked genes and risk of orofacial clefts

    DEFF Research Database (Denmark)

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

    2012-01-01

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

  5. Parents' age and the risk of oral clefts

    DEFF Research Database (Denmark)

    Bille, C.; Skytthe, A.; Vach, W.

    2005-01-01

    . METHODS: Among the 1,489,014 live births in Denmark during 1973-1996, there were 1920 children with nonsyndromic cleft lip with or without cleft palate and 956 children with nonsyndromic cleft palate. We used logistic regression to assess the impact of parental age on the occurrence of cleft lip....... In a joint analysis, both maternal and paternal ages were associated with the risk of cleft lip with or without cleft palate, but the contribution of each was dependent on the age of the other parent. In the analysis of cleft palate only, the effect of maternal age disappeared, leaving only paternal age...

  6. Implementing the Brazilian Database on Orofacial Clefts

    Directory of Open Access Journals (Sweden)

    Isabella Lopes Monlleó

    2013-01-01

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

  7. An Otorhinological study of patients with cleft lip and palate

    OpenAIRE

    Bariar, L. M.; Ahmad, Imran; Sharma, S. C.

    2001-01-01

    32 patients of cleft palate with or without cleft lip were subjected to otorhinological study from January 1998 to September 2000, with special attention to the rhinological anomalies, ear pathology, any deafness, discharge or any other findings relevant to the middle ear. Hearing loss and ear changes were not seen in any patient with cleft lip alone, hence these patients were not included in this study. These changes were confined to the patients with cleft palate only, with or without cleft...

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

    DEFF Research Database (Denmark)

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

    2014-01-01

    Structured Abstract Objectives To estimate the influence of a short mandible on the risk of developing a cleft palate with/without a cleft lip (CP). Setting and sample population The retrospective sample consisted of 115 2-month-old Danish infants with CP, and 70 control infants with unilateral...... incomplete cleft lip (UICL). Material and Methods Cephalometric X-rays were obtained. Mandibular length (L-m) was measured and corrected for body length (L-b) to remove influence of varying body length in the sample. Logistic regression was applied to the corrected mandibular length (L-mc) to calculate...... the risk of having a cleft palate. Results The mean mandibular length in the group with CP was about 4mm shorter than in the control group. Odds ratio (OR) was calculated to be 0.58 (95% confidence interval 0.48-0.68), implying that an individual's risk of cleft palate with/without a cleft lip increases...

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

    Directory of Open Access Journals (Sweden)

    Lovya George

    2015-10-01

    Full Text Available 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.

  10. Maternal dietary restriction alters offspring's sleep homeostasis.

    Directory of Open Access Journals (Sweden)

    Noriyuki Shimizu

    Full Text Available Nutritional state in the gestation period influences fetal growth and development. We hypothesized that undernutrition during gestation would affect offspring sleep architecture and/or homeostasis. Pregnant female mice were assigned to either control (fed ad libitum; AD or 50% dietary restriction (DR groups from gestation day 12 to parturition. After parturition, dams were fed AD chow. After weaning, the pups were also fed AD into adulthood. At adulthood (aged 8-9 weeks, we carried out sleep recordings. Although offspring mice displayed a significantly reduced body weight at birth, their weights recovered three days after birth. Enhancement of electroencephalogram (EEG slow wave activity (SWA during non-rapid eye movement (NREM sleep was observed in the DR mice over a 24-hour period without changing the diurnal pattern or amounts of wake, NREM, or rapid eye movement (REM sleep. In addition, DR mice also displayed an enhancement of EEG-SWA rebound after a 6-hour sleep deprivation and a higher threshold for waking in the face of external stimuli. DR adult offspring mice exhibited small but significant increases in the expression of hypothalamic peroxisome proliferator-activated receptor α (Pparα and brain-specific carnitine palmitoyltransferase 1 (Cpt1c mRNA, two genes involved in lipid metabolism. Undernutrition during pregnancy may influence sleep homeostasis, with offspring exhibiting greater sleep pressure.

  11. BILATERAL TESSIER CLEFT 3: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Utpal

    2014-06-01

    Full Text Available Tessier cleft 3 is a very rare congenital anomaly, (2 especially the bilateral form. Very few cases have been reported worldwide. (1,2 I report a case of bilateral Tessier cleft 3 presenting at the age of three months with clefts extending from philtral regions, undermining the nasal alar bases to the medial canthal areas bilaterally. There were bilateral complete alveolar clefts with mild protrusion of the pre-maxilla, but the rest of the maxilla including the palate was not involved. Surgical correction was started at the age of three months and completed at the age of one and half years in three stages. There was no intra-operative or postoperative complications and the final result was satisfactory.

  12. Maternal Hyperleptinemia Is Associated with Male Offspring's Altered Vascular Function and Structure in Mice.

    Directory of Open Access Journals (Sweden)

    Kathleen A Pennington

    Full Text Available Children of mothers with gestational diabetes have greater risk of developing hypertension but little is known about the mechanisms by which this occurs. The objective of this study was to test the hypothesis that high maternal concentrations of leptin during pregnancy, which are present in mothers with gestational diabetes and/or obesity, alter blood pressure, vascular structure and vascular function in offspring. Wildtype (WT offspring of hyperleptinemic, normoglycemic, Leprdb/+ dams were compared to genotype matched offspring of WT-control dams. Vascular function was assessed in male offspring at 6, and at 31 weeks of age after half the offspring had been fed a high fat, high sucrose diet (HFD for 6 weeks. Blood pressure was increased by HFD but not affected by maternal hyperleptinemia. On a standard diet, offspring of hyperleptinemic dams had outwardly remodeled mesenteric arteries and an enhanced vasodilatory response to insulin. In offspring of WT but not Leprdb/+ dams, HFD induced vessel hypertrophy and enhanced vasodilatory responses to acetylcholine, while HFD reduced insulin responsiveness in offspring of hyperleptinemic dams. Offspring of hyperleptinemic dams had stiffer arteries regardless of diet. Therefore, while maternal hyperleptinemia was largely beneficial to offspring vascular health under a standard diet, it had detrimental effects in offspring fed HFD. These results suggest that circulating maternal leptin concentrations may interact with other factors in the pre- and post -natal environments to contribute to altered vascular function in offspring of diabetic pregnancies.

  13. A comprehensive review of the genetic basis of cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Sarvraj Singh Kohli

    2012-01-01

    Full Text Available Cleft lip and palate (CLP are birth defects that affect the upper lip and the roof of the mouth. CLP has a multifactorial etiology, comprising both genetic and environmental factors. In this review we discuss the recent data on the etiology of cleft lip and palate. We conducted a search of the MEDLINE database (Entrez PubMed from January 1986 to December 2010 using the key words: ′cleft lip,′ ′cleft palate,′ ′etiology,′ and ′genetics.′ The etiology of CLP seems complex, with genetics playing a major role. Several genes causing syndromic CLP have been discovered. Three of them-T-box transcription factor-22 (TBX22, poliovirus receptor-like-1 (PVRL1, and interferon regulatory factor-6 (IRF6-are responsible for causing X-linked cleft palate, cleft lip/palate-ectodermal dysplasia syndrome, and Van der Woude and popliteal pterygium syndromes, respectively; they are also implicated in nonsyndromic CLP. The nature and functions of these genes vary widely, illustrating the high vulnerability within the craniofacial developmental pathways. The etiological complexity of nonsyndromic cleft lip and palate is also exemplified by the large number of candidate genes and loci. To conclude, although the etiology of nonsyndromic CLP is still largely unknown, mutations in candidate genes have been identified in a small proportion of cases. Determining the relative risk of CLP on the basis of genetic background and environmental influence (including smoking, alcohol use, and dietary factors will be useful for genetic counseling and the development of future preventive measures.

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

    Directory of Open Access Journals (Sweden)

    Abdolreza Jamilian

    2016-05-01

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

  15. Exposure to a highly caloric palatable diet during pregestational and gestational periods affects hypothalamic and hippocampal endocannabinoid levels at birth and induces adiposity and anxiety-like behaviors in male rat offspring

    Directory of Open Access Journals (Sweden)

    Maria Teresa eRamírez-López

    2016-01-01

    Full Text Available Exposure to unbalanced diets during pre-gestational and gestational periods may result in long-term alterations in metabolism and behavior. The contribution of the endocannabinoid system to these long-term adaptive responses is unknown. In the present study, we investigated the impact of female rat exposure to a hypercaloric-hypoproteic palatable diet during pre-gestational, gestational and lactational periods on the development of male offspring. In addition, the hypothalamic and hippocampal endocannabinoid contents at birth and the behavioral performance in adulthood were investigated. Exposure to a palatable diet resulted in low weight offspring who exhibited low hypothalamic contents of arachidonic acid and the two major endocannabinoids (anandamide and 2-arachidonoylglycerol at birth. Palmitoylethanolamide, but not oleoylethanolamide, also decreased. Additionally, pups from palatable diet-fed dams displayed lower levels of anandamide and palmitoylethanolamide in the hippocampus. The low-weight male offspring, born from palatable diet exposed mothers, gained less weight during lactation and, although they recovered weight during the post-weaning period, they developed abdominal adiposity in adulthood. These animals exhibited anxiety-like behavior in the elevated plus-maze and open field test and a low preference for a chocolate diet in a food preference test, indicating that maternal exposure to a hypercaloric diet induces long-term behavioral alterations in male offspring. These results suggest that maternal diet alterations in the function of the endogenous cannabinoid system can mediate the observed phenotype of the offspring, since both hypothalamic and hippocampal endocannabinoids regulate feeding, metabolic adaptions to caloric diets, learning, memory and emotions.

  16. 河南省部分地区唇腭裂患者术后继发畸形调查分析%The Secondary Deformity Distribution of Cleft lip and Cleft Palate in Henan Province

    Institute of Scientific and Technical Information of China (English)

    马敬斋; 张景霞

    2012-01-01

    Objective: To explore the relationships between secondary deformities of Cleft lip and cleft palate and selection of mode of initial operation. Methods; To survey and to take photos for the patients of cleft lip and cleft palate in henan province,to study the photos and to record the Operation mode and the secondary deformities. Re-sults: There were 2046 cases of Cleft lip and cleft palate . Of the 1514 cases of unilateral Cleft Up with or without cleft palate, 1268 were diagnosed as the patients of the secondary defortuities,Of the 488 cases of bilateral Cleft lip with or without cleft palate,464 were diagnosed as the patients of the secondary defortuities. Conclusion: Initially a-dopted operation mode for Cleft lip with or without cleft palate has remarkably affected the risk of secondary defortuities.%目的:了解唇裂、腭裂一期手术后继发畸形的情况,并探讨其影响因素及有效的解决方法.方法:采用普查法对河南省部分地区人群进行随访,对唇腭裂患者进行术区照相,根据照片记录手术类型、术后继发畸形情况,将结果进行统计学分析.结果:共随访唇腭裂术后患者2046例.单侧唇裂患者1514例,术后继发畸形1268例,,双侧唇裂患者488例,术后继发畸形466例,腭裂患者446例,术后继发硬腭穿孔及软腭复裂26例.结论:适当选择唇腭裂手术类型,对唇腭裂术后患者进行定期随诊及普查,及时发现、治疗术后继发畸形,对提高唇腭裂手术的治疗效果具有极为重要的意义.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-11-01

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

  18. Windows of Sensitivity to Toxic Chemicals in the Development of Cleft Palates.

    Science.gov (United States)

    Buser, M C; Pohl, H R

    2015-01-01

    Cleft lip and cleft palate are among the most common birth defects worldwide. There is a genetic component to the development of these malformations, as well as evidence that environmental exposures and prescription drug use may exacerbate or even produce these manifestations. Thus, it is important to understand the underlying mechanisms and when these exposures affect development of the growing fetus. The purpose of this investigation was to critically review the available literature related to orofacial cleft formation following chemical exposure and identify specific time frames for windows of sensitivity. Further, an aim was to evaluate the potential for predicting effects in humans based on animal studies. Evidence indicates that chemical causes of cleft palate development are due to dose and timing of exposure, susceptibility of the species (i.e., the genetic makeup), and mechanism of action. Several studies demonstrated that dose is a crucial factor; however, some investigators argued that even more important than dose was timing of exposure. Data show that the window of sensitivity to environmental teratogens in the development of cleft palates is quite narrow and follows closely the window of palatogenesis in the fetus of any given species.

  19. Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.

    Science.gov (United States)

    Johansson, Stefan; Berland, Siren; Gradek, Gyri Aasland; Bongers, Ernie; de Leeuw, Nicole; Pfundt, Rolph; Fannemel, Madeleine; Rødningen, Olaug; Brendehaug, Atle; Haukanes, Bjørn Ivar; Hovland, Randi; Helland, Gunnar; Houge, Gunnar

    2014-07-01

    MEIS2 is a homeodomain-containing transcription factor of the TALE superfamily that has been proven important for development. We confirm and extend a recent single clinical report stating that deletions in MEIS2 can cause cleft palate [Crowley et al. (2010); Am J Med Genet 152A:1326-1327]. Here we report on five additional patients with 15q14 deletions of sizes 0.6, 0.6, 1.0, 1.9, and 4.8 Mb, respectively, all involving MEIS2. In addition, we present a family with four affected individuals and an intragenic 58 kb direct duplication disrupting MEIS2. In total, 7/9 cases had clefting, from mild (submucous cleft palate) to severe (cleft lip and palate), and 3/9 cases had ventricular septal defects. All cases had delayed motor development and most had learning disability, at worst in the mild intellectual disability range. The cases had overlapping facial features (broad forehead, finely arched eyebrows, mildly shortened philtrum, and tented upper lip) but individually they were not considered to be dysmorphic. Our results show that MEIS2 is a gene needed for palate closure. In syndromic cases of cleft palate, MEIS2 should be considered among the candidate genes, for example, in cases without 22q11.2 deletions.

  20. The evolutionary ecology of offspring size in marine invertebrates.

    Science.gov (United States)

    Marshall, Dustin J; Keough, Michael J

    2007-01-01

    Intraspecific variation in offspring size is of fundamental ecological and evolutionary importance. The level of provisioning an organism receives from its mother can have far reaching consequences for subsequent survival and performance. In marine systems, the traditional focus was on the remarkable variation in offspring size among species but there is increasing focus on variation in offspring size within species. Here we review the incidence and consequences of intraspecific offspring-size variation for marine invertebrates. Offspring size is remarkably variable within and among marine invertebrate populations. We examined patterns of variation in offspring size within populations using a meta-analysis of the available data for 102 species across 7 phyla. The average coefficient of variation in offspring size within populations is 9%, while some groups (e.g., direct developers) showed much more variation (15%), reflecting a fourfold difference between the largest and smallest offspring in any population. Offspring-size variation can have for reaching consequences. Offspring size affects every stage of a marine invertebrate's life history, even in species in which maternal provisioning accounts for only a small proportion of larval nutrition (i.e., planktotrophs). In species with external fertilization, larger eggs are larger targets for sperm and as such, the sperm environment may select for different egg sizes although debate continues over the evolutionary importance of such effects. Offspring size affects the planktonic period in many species with planktotrophic and lecithotrophic development, but we found that this effect is not universal. Indeed, much of the evidence for the effects of offspring size on the planktonic period is limited to the echinoids and in this group and other taxa there is variable evidence, suggesting further work is necessary. Post-metamorphic effects of offspring size were strong in species with non-feeding larvae and direct

  1. Peptide fingerprinting of folate-responsive proteins in human B lymphoblasts and orofacial clefting

    NARCIS (Netherlands)

    Bliek, B.J.; Guzel, C.; Klein, A. de; Stingl, C.; Luider, T.M.; Lindemans, J.; Steegers, E.A.P.; Steegers-Theunissen, R.P.M.

    2012-01-01

    BACKGROUND: Maternal periconceptional use of folic acid contributes to the prevention of neural crest-related congenital malformations including orofacial clefts. The underlying biological pathways affected by folic acid,however, are still not clarified. In an explorative study, we identify folate-r

  2. Lexical selectivity in Danish toddlers with cleft palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth

    2013-01-01

    Objective: To study if Danish toddlers 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...... productions establishing an observed productive vocabulary size for each participant. Results: At 18 months of age Danish toddlers with cleft palate showed marked lexical selectivity in their early words. The distribution of consonant classes observed at 11 months of age in a previous study of the children...... 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 non cleft peers. Conclusions & Implications: Danish toddlers with cleft palate display lexical selectivity in the early lexicon...

  3. Dermatoglyphic peculiarities in children with oral clefts

    Directory of Open Access Journals (Sweden)

    Mathew L

    2005-01-01

    Full Text Available In humans, the development of the primary palate and the lip is completed by the 7th week of intra uterine life and that of secondary palate by 12th week. The dermal ridges develop in relation to the volar pads, which are formed by the 6th week of gestation and reach maximum size between 12th and 13th weeks. This means that the genetic message contained in the genome - normal or abnormal is deciphered during this period and is also reflected by dermatoglyphics.Hence this study was done in order to observe the differences in dermatoglyphic patterns between the children with oral clefts and normal children and to determine the usefulness of dermatoglyphics in studying the genetic etiology of oral clefts.Dermatoglyphic data from 50 oral cleft children and 50 normal children were collected using the ink method and comparison was done between them. In the present study, we found an increase in the ulnar loop patterns on the distal phalanges of the ten fingers, an increase in the atd angle and an increase in the fluctuating asymmetry of the atd angle in the oral cleft children which indicates the degree of developmental instability of the oral cleft individual.

  4. Cleft palate caused by congenital teratoma.

    Science.gov (United States)

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

    2017-02-01

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

  5. Soft tissue chondroma of hard palate associated with cleft palate

    OpenAIRE

    Rajendra Nehete; Anita Nehete; Sandeep Singla; Sudhir Sankalecha

    2012-01-01

    Soft tissue chondroma of palate is very rare. It has never been reported in a cleft palate patient. We report a case of 22-year-old male who came with asymptomatic swelling on the palate since birth, along with complete cleft of secondary palate. He had symptoms related to cleft palate only, i.e., nasal regurgitation and speech abnormalities. Swelling was excised and the cleft palate was repaired. Histopathological examination revealed chondroma of the palate. The patient had no recurrence af...

  6. Congenital Palatal Fistula Associated with Submucous Cleft Palate

    OpenAIRE

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

    2016-01-01

    Background: Although cleft lip and cleft palate are among the most common congenital malformations, the presence of an isolated congenital palatal fistula along with a submucous cleft is very rare. This appears as an oval-shaped, full-thickness fenestration in the palatal midline that does not fully extend anteriorly or posteriorly, accompanied by the findings of a submucous cleft. Because of the uncommon nature of this entity, there is controversy about its etiology, diagnosis, and managemen...

  7. Exposure to a Highly Caloric Palatable Diet during the Perinatal Period Affects the Expression of the Endogenous Cannabinoid System in the Brain, Liver and Adipose Tissue of Adult Rat Offspring

    OpenAIRE

    Ramírez-López, María Teresa; Arco, Raquel; Decara, Juan; Vázquez, Mariam; Noemí Blanco, Rosario; Alén, Francisco; Suárez, Juan; Gómez de Heras, Raquel; Rodríguez de Fonseca, Fernando

    2016-01-01

    Recent studies have linked gestational exposure to highly caloric diets with a disrupted endogenous cannabinoid system (ECS). In the present study, we have extended these studies by analyzing the impact of the exposure to a palatable diet during gestation and lactation on a) the adult expression of endocannabinoid-related behaviors, b) the metabolic profile of adult offspring and c) the mRNA expression of the signaling machinery of the ECS in the hypothalamus, the liver and the adipose tissue...

  8. Isolated congenital palatal fistula without submucous cleft palate.

    Science.gov (United States)

    Karacan, Mehmet; Olgun, Haşim; Tan, Onder; Caner, Ibrahim

    2009-09-01

    Congenital fistula of the palate is a rare deformity. It has been generally associated with cleft palate. Treatment of cleft palate is surgical intervention. We present a child with congenital fistula of palate that was not associated with submucous cleft and closed spontaneously at 18 months.

  9. Is an isolated cleft lip an isolated anomaly?

    NARCIS (Netherlands)

    Deelder, J. D.; Breugem, C. C.; de Vries, Iris; de Bruin, M.; van der Molen, A. B. Mink; van der Horst, C. M. A. M.

    2011-01-01

    Introduction: It is well known that patients with cleft lip/palate or cleft palate can have associated anomalies. However, there is a relative paucity of information about the possible anomalies associated with an isolated cleft lip. A recent study (Vallino et al., 2008) showed that children with cl

  10. Submucous cleft palate and the general practitioner

    Science.gov (United States)

    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

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

    Science.gov (United States)

    Maternal ingestion of Nicotiana glauca from gestation days 32 through 41 results in a high incidence of cleft palate in Spanish goats. This caprine cleft palate model was used to evaluate the temporal sequence of palatal shelf fusion throughout the period of cleft induction with the poisonous plant...

  12. Measurement of health-related and oral health-related quality of life among individuals with nonsyndromic orofacial clefts: a systematic review and meta-analysis.

    Science.gov (United States)

    Queiroz Herkrath, Ana Paula Corrêa de; Herkrath, Fernando José; Rebelo, Maria Augusta Bessa; Vettore, Mario Vianna

    2015-03-01

    Objective : To compare health-related quality of life and oral health-related quality of life between nonsyndromic individuals with and without cleft lip and/or cleft palate and to identify the most affected quality of life dimensions in individuals with cleft lip and/or palate. Design : Systematic review and meta-analysis were conducted. Of the 314 identified citations, 23 articles were submitted to quality assessment. Data from nine studies on health-related quality of life and six on oral health-related quality of life were extracted for meta-analysis. Main Outcome Measures : Pooled mean differences of health-related quality of life between adults with and without cleft lip and/or palate, pooled means of health-related quality of life dimensions of children and adults with cleft lip and/or palate and oral health-related quality of life dimensions of children and adolescents with cleft lip and/or palate with a 95% confidence interval were calculated. Results : Quality assessment revealed methodological differences between studies. Lack of subgroup stratification and absence of control for confounders were the main limitations. Heterogeneity was detected on the comparison of oral health-related quality of life and health-related quality of life between children with and without cleft lip and/or palate, and oral health-related quality of life between adolescents with and without cleft lip and/or palate. A random-effect model showed a significant difference on health-related quality of life between adults with and without cleft lip and/or palate (mean difference = 0.10; 95% confidence interval, 0.16 to 0.05). Psychological health (mean, 78.9; 95% confidence interval, 70.1 to 87.7) and vitality (mean, 68.1; 95% confidence interval, 48.0 to 88.1) were the most affected health-related quality of life dimensions in children and adults with cleft lip and/or palate, respectively. Means of health-related quality of life dimensions in children and adults with cleft lip and

  13. No association between polymorphisms in cubilin, a gene of the homocysteine metabolism and the risk of non-syndromic cleft lip with or without cleft palate.

    Science.gov (United States)

    Martinelli, M; Carinci, F; Morselli, P G; Palmieri, A; Girardi, A; Riberti, C; Scapoli, L

    2011-01-01

    Epidemiological studies have correlated lower maternal periconceptional levels of plasma folate and cobalamin with increased risk of delivering offspring presenting congenital malformations such as cleft lip with or without cleft palate (CL/P) or neural tube defects. A number of genetic studies aimed at correlating these biochemical levels or the occurrence of malformations with specific genetic defects or polymorphisms have been successfully performed. The cubilin gene (CUBN) codes for a carrier that plays a crucial role in cobalamin cell internalization. CUBN polymorphisms were previously found to be associated with spina bifida occurrence. In this work, a family-based association study was performed to test CUBN involvement in CL/P. A sample of 391 CL/P triads was investigated with three single nucleotide polymorphisms mapping on the cubilin gene. Association tests indicated no significant association between CL/P and marker alleles or marker haplotypes. No evidence of maternal effect and imprinting were obtained. These data suggest that CUBN is not involved in CL/P onset in the investigated Italian population.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1995-08-01

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

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

    Science.gov (United States)

    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.

  16. Increased longevity in offspring of mothers with Alzheimer's disease.

    Science.gov (United States)

    Silverman, Jeremy M; Schmeidler, James; Schnaider-Beeri, Michal; Grossman, Hillel T; Luo, Xiaodong; West, Rebecca; Lally, Rachel C; Wang, Joy Y

    2008-09-05

    Life expectancy is a familial trait. However, the effectiveness of using the age at death of a deceased parent to estimate life expectancy in their offspring can vary depending on whether death in the parent was due to extrinsic versus intrinsic causes, as well as demographic characteristics such as sex. While Alzheimer's disease (AD) risk increases with increased age, mortality for individuals with AD is increased in contrast to comparably aged individuals without AD. Yet in most cases it is not the defining neuropathology of AD that directly terminates life but instead conditions and illnesses extrinsic to AD pathology that nevertheless have increased likelihood in its presence. For this reason, we hypothesized that offspring of AD mothers would have greater longevity than offspring of mothers without AD (insufficient numbers prevented a comparable analysis using fathers with AD). The longevity of 345 offspring of 100 deceased 60+ year old AD mothers was compared with 5,465 offspring in 1,312 deceased 60+ year old non-AD mothers. We used a proportional hazards model that accounted for clustered (nonindependent) observations due to the inclusion of several offspring from the same family. In both an unadjusted model and one that adjusted for the age at death in the mother, and the sex and birth year in the offspring we found evidence for increased longevity in the offspring of AD mothers. The results suggest that, in addition to genes that might directly affect pathways leading to AD, there may be familial/genetic factors not connected to specific pathophysiological processes in AD but instead associated with increased longevity that contribute to the familial aggregation observed in AD.

  17. 妊娠期和哺乳期双酚A暴露对幼年子代小鼠焦虑和抑郁行为的影响%Gestational and Lactational Exposure to Bisphenol A Affects Anxiety- and Depression-Behaviors in Young Offspring Mice

    Institute of Scientific and Technical Information of China (English)

    杨宇杰; 徐晓虹; 洪星; 谢灵丹; 余奇静; 田栋

    2012-01-01

    Bisphenol A (BPA) is an environmental estrogenic disrupter widely used in the production of plastics, and ubiquitous human exposure to this chemical has been proposed to be a potential risk to public health. There has been a growing concern about the effect of early-life exposure to low doses of BPA. This study was to investigate the behavior difference of mice which exposed to BPA in gestation period or lactation period separately. After acclimatization for one week, adult female ICR mice were placed with males (two females : one male) and vaginal smears were examined daily. A sperm-positive smear determined gestational day (GD) 1. Pregnant mice were divided into 2 groups randomly. One group was orally exposed to BPA dissolved in peanut oil (0.4 or 4 mg/kg ·d) or only peanut oil as vehicle control from GD8 until offspring mice born. The other group was exposed to BPA with the same method from offspring mice born to postnatal day (PND) 14. At PND21 of age, open field, dark/light transition, mirror chamber, elevated plus-maze, forced swim and step-down were respectively used to test spontaneous activity, exploratory behavior, anxiety, depression, and passive avoidance memory in offspring mice. The results showed that gestational or lactational exposure to BPA differently affects behaviors in offspring mice. Gestational exposure to BPA weakened anxiety and increased spontaneous activity of young offspring, as well as enhanced exploratory behavior of male offspring and passive avoidance memory of female offspring. Lactational exposure to BPA decreased the spontaneous activity of young offspring, but no significant effect on anxiety was found in offspring mice. Both gestational and lactational exposure to BPA strengthened depression in male and female offspring mice. These results suggested that non-reproductive behaviors in offspring mice, such as anxiety, depression, passive avoidance memory, were affected by both gestational and lactational exposure to BPA, while

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

    Science.gov (United States)

    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.

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

    DEFF Research Database (Denmark)

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

    2010-01-01

    BACKGROUND: Cleft lip only (CLO) and cleft lip and palate (CLP) are commonly regarded as variants of the same defect and are traditionally combined to form the single group of cleft lip with or without cleft palate (CL/P) prior to analysis. However, recent data have suggested that at least...... a subgroup of isolated CLO may be etiologically distinct from isolated CLP. METHODS: To explore fetal genetic risk of isolated CLO separately from isolated CLP, we performed a subphenotype analysis using two population-based studies of clefts in Scandinavia. One hundred twenty-one isolated CLO, 190 isolated...... CLP, and 592 control triads were available from Norway (1996-2001), and a further 76 isolated CLO and 107 isolated CLP triads were available from Denmark (1991-2001). Genotypes for 1315 SNPs in 334 autosomal cleft candidate genes were analyzed using two complementary statistical methods, Triad Multi...

  20. Considerations on morphological abnormalities of permanent teeth in children with cleft lip and palate.

    Science.gov (United States)

    Răducanu, Anca Maria; Didilescu, Andreea Cristiana; Feraru, Ion Victor; Dumitrache, Mihaela Adina; Hănţoiu, Tudor Alexandru; Ionescu, Ecaterina

    2015-01-01

    Oral clefts are commonly associated with dental anomalies of number, size, shape, structure, position and eruption affecting both dentitions. Dental malformations may affect the development, growth and functions of the dento-maxillary apparatus (chewing, aesthetics, speech). The purpose of this paper was to assess the dental morphological variations in a group of patients with cleft lip and/or palate (CLP), as compared with a group of healthy subjects. The study sample included 48 patients with various types of CLP (15 girls and 33 boys) aged between 12.6 years and 17.3 years. The control group (without CLP) consisted of 1447 patients (545 girls and 903 boys). The proportion of patients with dental shape anomalies in the control group was 8.6%, while the proportion of patients with dental shape anomalies in the CLP group was 56.3% (pdental hemiarch affected by CLP were most affected in their morphology.

  1. Lexical selectivity in danish toddlers with cleft palate

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth

    2013-01-01

    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...... 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...

  2. Pre-birth world and the development of the immune system: mum's diet affects our adult health: new insight on how the diet during pregnancy permanently influences offspring health and immune fitness.

    Science.gov (United States)

    Ferreira, Manuela; Veiga-Fernandes, Henrique

    2014-12-01

    Secondary lymphoid organs form in utero through an inherited and well-established developmental program. However, maternal non-heritable features can have a major impact on the gene expression of the embryo, hence influencing the future health of the offspring. Recently, maternal retinoids were shown to regulate the formation of immune structures, shedding light on the role of maternal nutrition in the genetic signature of emergent immune cells. Here we highlight evidence showing how the maternal diet influences the establishment of the immune system, and we also discuss how unbalanced maternal diets may set the response to infection and vaccination in the progeny.

  3. Reconstruction during phase II of unilateral cleft lip improving function of musculus orbicularis oris%单侧唇裂Ⅱ期整复改善口轮匝肌功能

    Institute of Scientific and Technical Information of China (English)

    马新亮; 陈传俊; 韩立显

    2002-01-01

    @@ Background:Nasolabial deformity secondary to operation of cleft lip seriously affect patients' physiological and psychological function.Plasticity or reposition of musculus orbicularis oris received more attention in recent years.Since 1995,nasolabial deformity secondary to operation of unilateral complete cleft lip was reduced in 17 patients,and therapeutic effect is satisfying.

  4. Prenatal polycyclic aromatic hydrocarbon, adiposity, peroxisome proliferator-activated receptor (PPAR γ methylation in offspring, grand-offspring mice.

    Directory of Open Access Journals (Sweden)

    Zhonghai Yan

    Full Text Available RATIONALE: Greater levels of prenatal exposure to polycyclic aromatic hydrocarbon (PAH have been associated with childhood obesity in epidemiological studies. However, the underlying mechanisms are unclear. OBJECTIVES: We hypothesized that prenatal PAH over-exposure during gestation would lead to weight gain and increased fat mass in offspring and grand-offspring mice. Further, we hypothesized that altered adipose gene expression and DNA methylation in genes important to adipocyte differentiation would be affected. MATERIALS AND METHODS: Pregnant dams were exposed to a nebulized PAH mixture versus negative control aerosol 5 days a week, for 3 weeks. Body weight was recorded from postnatal day (PND 21 through PND60. Body composition, adipose cell size, gene expression of peroxisome proliferator-activated receptor (PPAR γ, CCAAT/enhancer-binding proteins (C/EBP α, cyclooxygenase (Cox-2, fatty acid synthase (FAS and adiponectin, and DNA methylation of PPAR γ, were assayed in both the offspring and grand-offspring adipose tissue. FINDINGS: Offspring of dams exposed to greater PAH during gestation had increased weight, fat mass, as well as higher gene expression of PPAR γ, C/EBP α, Cox2, FAS and adiponectin and lower DNA methylation of PPAR γ. Similar differences in phenotype and DNA methylation extended through the grand-offspring mice. CONCLUSIONS: Greater prenatal PAH exposure was associated with increased weight, fat mass, adipose gene expression and epigenetic changes in progeny.

  5. Cleft Lip and Palate (For Parents)

    Science.gov (United States)

    ... to latch on and suck during breastfeeding or bottle feeding. As a result, a baby with a cleft palate may need a special nipple and bottle to receive pumped breast milk or formula. ... with feeding issues should be seen regularly by a doctor ...

  6. CLEFT-PALATE REPAIR - FURLOW VERSUS VONLANGENBECK

    NARCIS (Netherlands)

    SPAUWEN, PHM; GOORHUISBROUWER, SM; SCHUTTE, HK

    1992-01-01

    The Furlow cleft palate repair using a double opposing Z-plasty appears to be very promising. In order to detect advantages and disadvantages concerning the technique as well as speech- and hearing results, the Furlow palatoplasty was compared with the classical von Langenbeck technique. Data analys

  7. Hearing outcomes in patients with cleft lip/palate.

    Science.gov (United States)

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

    2015-03-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-09-15

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

  9. Incomplete reduction of branchial clefts in Mutton Merino lambs

    Directory of Open Access Journals (Sweden)

    Rhoda Leask

    2014-02-01

    Full Text Available Congenital malformations of the branchial arches, clefts and grooves have not been previously reported in sheep. These defects may be due to infectious agents (especially viruses, toxins or genetic abnormalities. Defects were reported in two of a set of quadruplet lambs born prematurely to an eight-tooth Mutton Merino ewe. The lambs weighed between 2.0 kg and 2.5 kg; this is below the normal expected birth weight of 3.5 kg for quadruplet lambs, below which viability is compromised. The firstborn lamb was severely affected by bilateral oroauricular fistulae. The second lamb was unilaterally affected on the right, less severely than the first. The third lamb was normal and the fourth was mummified. The occurrence of another case in this small flock almost a decade earlier indicates that there could be genetic involvement.

  10. Incomplete reduction of branchial clefts in Mutton Merino lambs.

    Science.gov (United States)

    Leask, Rhoda; Pettey, Kenneth P; Bath, Gareth F

    2014-05-19

    Congenital malformations of the branchial arches, clefts and grooves have not been previously reported in sheep. These defects may be due to infectious agents (especially viruses), toxins or genetic abnormalities. Defects were reported in two of a set of quadruplet lambs born prematurely to an eight-tooth Mutton Merino ewe. The lambs weighed between 2.0 kg and 2.5 kg; this is below the normal expected birth weight of 3.5 kg for quadruplet lambs, below which viability is compromised. The firstborn lamb was severely affected by bilateral oroauricular fistulae. The second lamb was unilaterally affected on the right, less severely than the first. The third lamb was normal and the fourth was mummified. The occurrence of another case in this small flock almost a decade earlier indicates that there could be genetic involvement.

  11. Effects of experimentally manipulated yolk thyroid hormone levels on offspring development in a wild bird species

    NARCIS (Netherlands)

    Ruuskanen, Suvi; Darras, Veerle M.; Visser, Marcel E.; Groothuis, Ton G.G.

    2016-01-01

    Abstract Maternal effects are a crucial mechanism in a wide array of taxa to generate phenotypic variation, thereby affecting offspring development and fitness. Maternally derived thyroid hormones (THs) are known to be essential for offspring development in mammalian and fish models, but have been l

  12. Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly

    Directory of Open Access Journals (Sweden)

    Debangshu Ghosh

    2015-01-01

    Full Text Available Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR which is a good alternative to lacrimal probing or open DCR in such a case.

  13. Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly.

    Science.gov (United States)

    Ghosh, Debangshu; Saha, Somnath; Basu, Sumit Kumar

    2015-10-01

    Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD) obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR) which is a good alternative to lacrimal probing or open DCR in such a case.

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    Marius-Nunez, A L; Wasiak, D T

    2015-10-01

    Among the representations of congenital malformations in Moche ceramic art, cranio-facial clefts have been portrayed in pottery found in Moche burials. These pottery vessels were used as domestic items during lifetime and funerary offerings upon death. The aim of this study was to examine archeological evidence for representations of cranio-facial cleft malformations in Moche vessels. Pottery depicting malformations of the midface in Moche collections in Lima-Peru were studied. The malformations portrayed on pottery were analyzed using the Tessier classification. Photographs were authorized by the Larco Museo.Three vessels were observed to have median cranio-facial dysraphia in association with midline cleft of the lower lip with cleft of the mandible. ML001489 portrays a median cranio-facial dysraphia with an orbital cleft and a midline cleft of the lower lip extending to the mandible. ML001514 represents a median facial dysraphia in association with an orbital facial cleft and a vertical orbital dystopia. ML001491 illustrates a median facial cleft with a soft tissue cleft. Three cases of midline, orbital and lateral facial clefts have been portrayed in Moche full-figure portrait vessels. They represent the earliest registries of congenital cranio-facial malformations in ancient Peru.

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

    Directory of Open Access Journals (Sweden)

    Galen W Heyne

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

  17. MOTHERS' EXPERIENCES WHEN THEIR INFANTS WERE DIAGNOSED WITH CLEFT LIPS ANDIOR PALATES

    Directory of Open Access Journals (Sweden)

    Brenda Louw

    2011-11-01

    Full Text Available Traditionally the diagnosis of cleft lip and palate was made at birth or soon thereafter, but modem technology has led to the identification of cleft lip prenatally The aim of this study was to describe 16 mothers' experiences of pre- and postnatal diagnosis of their infants' cleft lip and palate, and to develop clinical guidelines for craniofacial team members, to meet parental expectations and needs in both pre- and postnatal periods. In order to provide the best possible care to each affected child and the most effective support to each mother, it is of the utmost importance that craniofacial teams have guidelines to assist them in developing a more accountable, effective and sensitive service to these mothers. An exploratory, descriptive quantitative survey research design was selected to describe mothers' reactions to and perceptions of the pre- and postnatal diagnosis. Scheduled structured interviews were used as a data collecting technique. The results indicated that, irrespective of the time of diagnosis, the mothers required support that included emotional support, information, interaction with other parents of children with clefts, and a team approach. This study emphasised the importance of understanding parental preferences in order to enhance the team approach and also highlighted the need for further research.

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

    Science.gov (United States)

    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

  19. Parents bereaved by offspring suicide

    DEFF Research Database (Denmark)

    Bolton, James M; Au, Wendy; Leslie, William D

    2013-01-01

    CONTEXT Suicide bereavement remains understudied and poorly understood. OBJECTIVES To examine outcomes of parents bereaved by the suicide death of their offspring and to compare these with both nonbereaved parent controls and parents who had offspring die in a motor vehicle crash (MVC). DESIGN...... Population-based case-control study. Suicide-bereaved parents were compared with nonbereaved matched control parents in the general population (n = 1415) and with MVC-bereaved parents (n = 1132) on the rates of physician-diagnosed mental and physical disorders, social factors, and treatment use in the 2...... years after the suicide of an offspring, as compared with the 2 years prior to the death. Suicide-bereaved and MVC-bereaved parents had very few differences on predeath to postdeath outcomes. Depression rate increases were greater for MVC-bereaved parents (19.9%) compared with suicide-bereaved parents...

  20. Maternal n-3 polyunsaturated fatty acid deprivation during pregnancy and lactation affects neurogenesis and apoptosis in adult offspring: associated with DNA methylation of brain-derived neurotrophic factor transcripts.

    Science.gov (United States)

    Fan, Chaonan; Fu, Huicong; Dong, Hua; Lu, Yuanyuan; Lu, Yanfei; Qi, Kemin

    2016-09-01

    In this study, we hypothesized that n-3 polyunsaturated fatty acid (PUFA) deficiency during pregnancy and lactation will make a lasting impact on brain neurogenesis and apoptosis of the adult offspring and that these harmful effects cannot be reversed by n-3 PUFA supplementation after weaning. Moreover, the underlying mechanisms may be attributable to the epigenetic changes of brain-derived neurotrophic factor (BDNF). C57BL/6J female mice were fed with n-3 PUFA-deficient diet (n-3 def) or n-3 PUFA-adequate diet (n-3 adq) throughout pregnancy and lactation. At postnatal 21 days, equal numbers of male pups from both groups were fed the opposite diet, and the remaining male pups were fed with the same diets as their mothers until 3 months of age. Feeding the n-3 adq diet to pups from the maternal n-3 def group significantly increased the n-3 PUFA concentration but did not change expressions of calretinin, Bcl2, and Bax in the hippocampus. Feeding the n-3 def diet to pups from the maternal n-3 adq group significantly reduced the n-3 PUFA concentration but did not reduce expressions of calretinin and Bcl2. Similarly, BDNF levels, especially mRNA expressions of BDNF transcripts IV and IX, were also reduced by maternal n-3 def and not reversed by n-3 PUFA supplementation after weaning. The decrease in BDNF expression by maternal n-3 def diet was associated with greater DNA methylation at special CpG sites. These results suggested that the maternal n-3 PUFA deficiency during pregnancy and lactation imprints long-term changes of brain development in adult offspring.

  1. Effect of Nasal Floor Closure on the Size of Alveolar Cleft in Complete Unilateral or Bilateral Primary Cleft Palate

    Directory of Open Access Journals (Sweden)

    M Moghadaszadeh

    2012-10-01

    Full Text Available Introduction: Cleft lip (CL and cleft palate (CP are among the most common congenital anomalies. Constituting 65% of head and neck anomalies in isolated or syndromic forms, they are considered as the most common head and neck congenital deformities in children. Methods: 15 children from the Tabriz Children Hospital were evaluated in this descriptive-analytic cross sectional study that possessed unilateral and bilateral cleft lip and palate with inclusion criteria. The effect of nasal floor reconstruction on the size of alveolar cleft and palatal anterior fistula formation were evaluated in primary unilateral and bilateral cleft palate. Results: There were 11 (73.3% male and only 4 (26.7% female patients in the sample group. The mean duration from first consult to reconstructive surgery was 3.4±1.8 months (1 to 9 months range. The width of alveolar cleft and alveolar ridge angle on cleft side compared to normal side in sagittal and coronal axis was significant after nasal floor reconstruction (P=0.001, P=0.02, while septal angle changes were not significant (P=0.26, which means no increase in septal deviation has been documented. Conclusion: Considering the significant changes of alveolar cleft width and alveolar ridge angle on cleft side compared to normal side in sagittal and coronal axis after nasal floor closure, this method can be applied as a new interventional surgery in primary unilateral and bilateral cleft palate.

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

    Science.gov (United States)

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

    2016-01-01

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

  3. Habitat structure influences parent-offspring association in a social lizard

    Directory of Open Access Journals (Sweden)

    Thomas Botterill-James

    2016-08-01

    Full Text Available Parental care emerges as a result of an increase in the extent of interaction between parents and their offspring. These interactions can provide the foundation for the evolution of a range of complex parental behaviors. Therefore, fundamental to understanding the evolution of parental care is an understanding of the factors that promote this initial increase in parent-offspring association. Here, we used large outdoor enclosures to test how the spatial structure of high-quality habitat affects the occurrence of parent-offspring associations in a social lizard (Liopholis whitii. We found that the extent of parent-offspring association was higher when high-quality habitat was aggregated relative to when it was dispersed. This may be the result of greater competitive exclusion of adults and offspring from high quality crevices sites in the aggregated treatment compared to the dispersed treatment. Associating with parents had significant benefits for offspring growth and body condition but there were no concomitant effects on offspring survival. We did not find costs of parent-offspring association for parents in terms of increased harassment and loss of body condition. We discuss a number of potential mechanisms underlying these results. Regardless of mechanisms, our results suggest that habitat structure may shape the extent of parent-offspring association in L. whitti, and that highly aggregated habitats may set the stage for the diversification of more complex forms of care observed across closely related species.

  4. TREATMENT OF SOFT TISSUE INJURY BY PUNCTURING CLEFT-POINTS

    Institute of Scientific and Technical Information of China (English)

    Xu Yunxiang; Chen Guizhen

    2001-01-01

    Objective: To observe the therapeutic effect of acupuncture of "Xi" (Cleft)-points in treatment of soft tissue injury. Methods: 335 cases of soft tissue injury patients were divided into Cleft-point group (264 cases) and Ashipoint group (control group, 71 cases) randomly. In Cleft-point group, the 16 Cleft-points were used in combination with Ahshi points. In control group, only local Ahshi-points were punctured. The treatment was conducted once every day, with 5 sessions being a therapeutic course. After 2 courses of treatment, the therapeutic effect was analyzed.Results: Results showed that the therapeutic effect of cleft-point group was significantly better than that of control group (P<0.05), particularly in treatment of acute soft tissue. Conclusion: Cleft-point acupuncture has a better therapeutic effect in treatment of soft tissue injury in comparison with Ashi-point.

  5. Oronasal fistula in cleft palate surgery

    Directory of Open Access Journals (Sweden)

    Sadhu Partha

    2009-10-01

    Full Text Available Oronasal fistula (ONF is the commonest complication associated with cleft palate surgery. The main symptoms associated with ONF are nasal regurgitation of food matter and hypernasality of voice. Repair of cleft palate under tension is considered to be the main reason of ONF though vascular accidents and infection can also be the cause. Most of the ONFs are situated in the hard palate or at the junction of hard and soft palate. Repair of ONF depends on its site, size and mode of presentation. A whole spectrum of surgical procedures starting from small local flaps to microvascular tissue transfers have been employed for closure of ONF. Recurrence rate of ONF is 25% on an average after the first attempt of repair.

  6. Congenital heart defects in children with oral clefts

    Directory of Open Access Journals (Sweden)

    Nahvi H.

    2007-09-01

    Full Text Available   Background: Oral clefts are among the most common congenital anomalies. Infants with oral clefts often have other associated congenital defects, especially congenital heart defects. The reported incidences and the types of associated malformations and congenital heart defects vary between different studies. The purpose of this study was to assess the incidence of associated congenital heart defects in children with oral clefts. Methods: All infants with cleft lip and palate referred to the Children's Medical Center and Bahramy; the teaching Hospitals of the Tehran University of Medical Sciences from 1991 to 2005 were prospectively enrolled in this study group. All patients were examined and noted by an academic cleft team contain; a pediatrician and a pediatric surgeon, and received cardiac consultation and echocardiography by a pediatric cardiologist. non cardiac associated anomalies, still born and patients without echocardiography were excluded from the study.  Data including age, gender, exposure to contagions and high risk elements ,consanguinity and familial history of oral cleft, type of oral cleft, results of cardiac consultation and echocardiography and associated cardiac anomalies were cumulated and analyzed by SSPS version 13.5Results: Among the 284 infants with oral clefts, 162 were male (57% and 122 were female (43%. Seventy-nine patients (27.8% had cleft lip, 84 (29.5% had cleft palate and 121 (42.6% had both cleft lip and palate. Of all the patients, 21.1% had congenital heart defects. the most common type Of these congenital heart defects(28.3%  was atrial septal defect.Conclusions: For patients with cleft lip and palate, we recommend preoperative cardiac consultation, careful examination and routine echocardiography for associated cardiac anomalies, as well as appropriate management and prophylactic antibiotic therapy for those with associated congenital heart anomaly.

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

    DEFF Research Database (Denmark)

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

    2010-01-01

    Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0...

  8. Kin competition within groups: the offspring depreciation hypothesis.

    Science.gov (United States)

    Ridley, J; Sutherland, W J

    2002-12-22

    Where relatives compete for the same resources (kin competition) and each obtains an equal share, this can favour the evolution of elevated dispersal rates, such that most resource competition is among non-relatives. We show that this effect evaporates as among-sibling dominance increases to the point where the allocation of resources is maximally unequal. We restore a kin-competition effect on emigration rates from dominance-ranked family groups by showing that where siblings form queues to inherit the breeding positions, the length of the queue affects the fitness of all individuals by depreciating the rank of subsequent offspring. Incorporating this 'offspring depreciation' effect decreases optimal queue lengths, increases dispersal rates and explains the otherwise paradoxical use of sinks by cooperatively breeding birds in stable environments. The offspring depreciation effect also favours the evolution of small, but consistent, clutch sizes and high reproductive skew, but constrains the evolution of alloparenting.

  9. Assessing the impact of nicotine dependence genes on the risk of facial clefts: An example of the use of national registry and biobank data

    Directory of Open Access Journals (Sweden)

    Astanand Jugessur

    2012-04-01

    Full Text Available Background: Maternal smoking during pregnancy has consistently been associated with risk of facial clefts in offspring, although these studies cannot establish causation. The association between maternal smoking and clefting risk may be caused by genes that influence nicotine dependence and other risk behaviors. Gamma-aminobutyric acid B receptor 2 (GABBR2, dopa decarboxylase (DDC, and cholinergic receptor nicotinic alpha 4 (CHRNA4 are three examples of genes that have previously shown strong associations with nicotine dependence. Methods: We used a population-based sample of 377 case-parent triads of cleft lip with or without cleft palate (CL/P and 762 control-parent triads from Norway (1996-2001 to investigate whether variants in GABBR2, DDC and CHRNA4 are associated with maternal first-trimester smoking and with clefting risk. We used HAPLIN (Gjessing et al. 2006, a statistical software tailored for family-based association tests, to perform haplotype-based analyses of 12 SNPs in these genes (rs10985765, rs1435252, rs3780422, rs2779562, and rs3750344 in GABBR2; rs2060762, rs3757472, rs1451371, rs3735273, and rs921451 in DDC; rs4522666 and rs1044393 in CHRNA4. Results: When analyzed one at a time, there was little evidence of association between any of the 12 SNPs and maternal first-trimester smoking. In haplotype analyses, however, one copy of the maternal G-G-c-G-c haplotype in DDC (SNP order as above was linked with smoking prevalence (odds ratio=1.5; 5% confidence interval: 1.0-2.1. This same haplotype also increased the risk of isolated CL/P in offspring by 1.5-fold with one copy and 2.4-fold with two copies (Ptrend=0.06. No statistically significant associations were detected with GABBR2 and CHRNA4. Conclusions: Despite strong associations previously reported between nicotine dependence and variants in GABBR2, DDC and CHRNA4, these genes were poor predictors of maternal first-trimester smoking in our data. The direct association of the

  10. Maternal thyroid function in pregnancy may program offspring blood pressure, but not adiposity at 20 y of age

    DEFF Research Database (Denmark)

    Rytter, Dorte; Andersen, Stine L; Bech, Bodil H

    2016-01-01

    BACKGROUND: Experimental evidence exists indicating that maternal thyroid hormones during pregnancy may affect the metabolic set point and cardio-vascular function in the offspring. The objective of this study was to investigate the association between maternal thyroid function in week 30...... circumference. CONCLUSION: Maternal thyroid function during third trimester of pregnancy may affect long-term blood pressure in the offspring....

  11. Ectodermal dysplasias associated with clefting: significance of scalp dermatitis.

    Science.gov (United States)

    Fosko, S W; Stenn, K S; Bolognia, J L

    1992-08-01

    Several clinical syndromes are characterized by ectodermal dysplasia (ED) in association with clefting of the lip and/or palate. The three most commonly recognized entities are (1) the EEC syndrome (ectodermal dysplasia, ectrodactyly, cleft lip/palate); (2) the Rapp-Hodgkin syndrome with ectodermal dysplasia, cleft lip/palate, and mid facial hypoplasia; and (3) the Hay-Wells or AEC syndrome (ankyloblepharon, ectodermal defects, cleft lip/palate). The clinical characteristics of these entities as well as several less common syndromes are reviewed and summarized. The presence of scalp dermatitis in patients with the AEC syndrome and less often the Rapp-Hodgkin syndrome is emphasized.

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

    Science.gov (United States)

    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.

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

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth; Chapman, Kathy

    2012-01-01

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

  14. Folic acid and homocysteine affect neural crest and neuroepithelial cell outgrowth and differentiation in vitro.

    NARCIS (Netherlands)

    Boot, M.J.; Steegers-Theunissen, R.P.M.; Poelmann, R.E.; Iperen, L. van; Lindemans, J.; Groot, A. de

    2003-01-01

    The beneficial effect of additional folic acid in the periconceptional period to prevent neural tube defects, orofacial clefts, and conotruncal heart defects in the offspring has been shown. Folate shortage results in homocysteine accumulation. Elevated levels of homocysteine have been related to ne

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

    Science.gov (United States)

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

    2014-01-01

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

  16. Effects of lip repair on maxillofacial morphology in patients with unilateral cleft lip with or without cleft palate.

    Science.gov (United States)

    Shao, Qinghua; Chen, Zhengxi; Yang, Yang; Chen, Zhenqi

    2014-11-01

    Objective : To evaluate the effects of lip repair on maxillofacial development of patients with unilateral cleft lip with or without cleft palate. Design : Retrospective. Patients : A total of 75 patients were recruited, including 38 surgical patients with complete unilateral cleft lip and alveolus and 37 patients with complete unilateral cleft lip and palate who had lip but not palate repair. As controls, 38 patients with no cleft were selected. All subjects were divided according to two growth stages: before the pubertal peak (GS1) and after the pubertal peak (GS2). Interventions : Lateral cephalograms of all subjects were obtained. Main Outcome Measures : Cephalograms were analyzed and compared in the study and control groups. Results : The patients with unilateral cleft lip and palate in both GS1 and GS2 demonstrated an almost normal maxillary and mandibular growth with retroclined maxillary incisors. The patients with unilateral cleft lip and palate showed a shorter length of maxilla, a more clockwise-rotated mandible, and retroclined maxillary incisors. Conclusions : There was an almost normal maxillary and mandibular growth but retroclined maxillary incisors in patients with cleft lip with or without cleft palate who had received lip repair only, indicating that lip repair may not have a negative impact on the maxillofacial development and influences only the inclination of the maxillary incisors. The shorter anterior-posterior maxillary length and larger gonial angle in patients with unilateral cleft lip and palate compared with those in patients with unilateral cleft lip and alveolus suggest that these variations in maxillary and mandibular growth may be a consequence of the cleft itself.

  17. Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation

    Directory of Open Access Journals (Sweden)

    Manisha Goyal

    2015-01-01

    Full Text Available The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED is the most common type and is usually transmitted as an X-linked recessive trait. It is characterized by classical triad of hypotrichosis, anhidrosis/hypohidrosis, and hypodontia/anodontia. Here, we describe an Indian boy affected with HED and rare features including ankylosis of temporomandibular joint and cleft palate.

  18. Craniofacial Morphology and Growth Comparisons in Children With Robin Sequence, Isolated Cleft Palate, and Unilateral Complete Cleft Lip and Palate

    DEFF Research Database (Denmark)

    Hermann, N. V.; Kreiborg, S.; Darvann, Tron Andre

    2003-01-01

    Objective: Comparison of early craniofacial morphology and growth in children with nonsyndromic Robin Sequence (RS), isolated cleft palate (ICP), and unilateral complete cleft lip and palate (UCCLP). Subjects: One hundred eight children with cleft: 7 with RS, 53 with ICP, and 48 with UCCLP were...... included in the study. The children were drawn from the group of all Danish children with cleft born 1976 through 1981. Method: Three-projection infant cephalometry. Results: The craniofacial morphology in the RS, ICP, and UCCLP groups had some common characteristics: a wide maxilla with decreased length...

  19. Growth, nutritional, and gastrointestinal aspects of ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC) syndrome

    Science.gov (United States)

    Ankyloblepharon-ectodermal defect-cleft lip and/or palate (AEC), is a rare genetic disorder due to mutations in the TP63 gene. In the present study, we characterized the pattern of growth and body composition, and the nutritional and gastrointestinal aspects of children and adults (n = 18) affected ...

  20. Gonioscopically Guided Nonpenetrating Cyclodialysis Cleft Repair: A Novel Surgical Technique

    Science.gov (United States)

    Rodrigues, Ian AS; Shah, Brinda; Goyal, Saurabh

    2017-01-01

    ABSTRACT Aim We present a novel surgical technique for repair of persistent and symptomatic cyclodialysis clefts refractory to conservative or minimally invasive treatment. Background Numerous surgical techniques have been described to close cyclodialysis clefts. The current standard approach involves intraocular repair of cyclodialysis clefts underneath a full-thickness scleral flap. Technique Our technique employs intraoperative use of a direct gonioscope to guide a nonpenetrating surgical repair. Subsequently, a significantly less invasive, nonpenetrating technique utilizing a partial-thickness scleral flap can be performed that reduces potential risks associated with intraocular surgery. The direct gonioscope is also used for confirmation of adequate surgical closure of the cyclodialysis cleft prior to completion of surgery. This technique has been successfully carried out to repair traumatic chronic cyclodialysis clefts associated with hypotony in two patients. There were no significant adverse events as a result of using this technique. Conclusion The novel technique described increases the likelihood of successful and permanent repair of cyclodialysis clefts with resolution of symptoms associated with hypotony, through direct intraoperative visualization of the cleft. Clinical significance Gonioscopically guided nonpenetrating cyclodialysis cleft repair offers significant benefits over previously described techniques. Advantages of our technique include gonioscopic cleft visualization, enabling accurate localization of the area requiring repair, and subsequent confirmation of adequate closure of the cleft. Using a partial-thickness scleral flap is also less invasive and reduces risks associated with treatment of this potentially challenging complication of ocular trauma. How to cite this article Rodrigues IAS, Shah B, Goyal S, Lim S. Gonioscopically Guided Nonpenetrating Cyclodialysis Cleft Repair: A Novel Surgical Technique. J Curr Glaucoma Pract 2017

  1. Parent-offspring conflict and the persistence of pregnancy-induced hypertension in modern humans

    DEFF Research Database (Denmark)

    Hartsteen, Birgitte Hollegaard; Byars, Sean Geoffrey; Lykke, Jacob

    2013-01-01

    Preeclampsia is a major cause of perinatal mortality and disease affecting 5-10% of all pregnancies worldwide, but its etiology remains poorly understood despite considerable research effort. Parent-offspring conflict theory suggests that such hypertensive disorders of pregnancy may have evolved...... through the ability of fetal genes to increase maternal blood pressure as this enhances general nutrient supply. However, such mechanisms for inducing hypertension in pregnancy would need to incur sufficient offspring health benefits to compensate for the obvious risks for maternal and fetal health...... that early PIH leading to improved postpartum survival and health represents a balanced compromise between the reproductive interests of parents and offspring, whereas later onset of PIH may reflect an unbalanced parent-offspring conflict at the detriment of maternal and offspring health....

  2. The cleft-columellar angle: a useful variable to describe the unilateral cleft lip-associated nasal deformity.

    Science.gov (United States)

    Meltzer, Noah E; Vaidya, Dhananjay; Capone, Randolph B

    2013-01-01

    Objective : To study a method for quantification of the severity of either the unilateral cleft lip deformity or the associated cleft nasal deformity. A standard method would be useful for defining surgical outcomes. Design : Using a developed rating questionnaire and patient photographs, 26 nonexpert volunteers rated 14 children with untreated unilateral cleft lip according to the severity of their overall deformity, as well as the individual lip and nose deformities. The cleft-columellar angle was measured as defined by the intersection of a line in the parasagittal plane and a line perpendicular to the columellar base along the midcolumellar line. The association between deformity ratings and the cleft-columellar angle was modeled using mixed-model regression analysis. Setting : Tertiary care academic medical center. Results : After accounting for within-rater and within-child effects, the cleft-columellar angle explained a statistically significant portion of the variance in the rated severity for lip deformity (49%, p  =  .0012), nasal deformity (57%, p  =  .0001), and overall deformity (57%, p  =  .0005). Conclusions : Measurement of the cleft-columellar angle in two-dimensional digital photography is simple and correlative, capturing a substantial portion of nonexpert severity ratings of the constellation of deformities seen with the unilateral cleft lip deformity. Given its ease of application, the cleft-columellar angle is a useful variable in the description of the unilateral cleft lip deformity and may find utility across institutions as cleft surgeons seek to advance surgical care through outcomes research.

  3. Changing lifestyles and oral clefts occurrence in Denmark

    DEFF Research Database (Denmark)

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

    2005-01-01

    The aim of this project was to access whether any changes in the birth prevalence of cleft lip with/without cleft palate (CL(P)) occurred in Denmark during the period 1988 through 2001. In this period an official recommendation of a supplementation of folic acid to pregnant women was introduced...

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

    Directory of Open Access Journals (Sweden)

    Singh Subodh

    2009-10-01

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

  5. Lexical selectivity in danish toddlers with cleft palate.

    Science.gov (United States)

    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.

  6. Prevalence of congenital heart diseases in oral cleft patients.

    Science.gov (United States)

    Barbosa, M M; Rocha, C M G; Katina, T; Caldas, M; Codorniz, A; Medeiros, C

    2003-01-01

    To establish the prevalence of congenital heart diseases (CHDs) in cleft patients, the type of cleft and the presence of a syndrome were coded in 220 patients. A Doppler echocardiogram with color-flow mapping (DE) was obtained in all patients. Mean age was 112.0 +/- 101.2 months (range, 1-576 months), and 56.8% (125) were males. Cleft lip and palate occurred in 144 patients (65.5%), cleft lip in 40 (18.2%), and cleft palate in 36 (16.4%). Cleft palates were more frequent among females. Twenty-four CHDs were diagnosed in 21 of 220 patients (9.5%): 7 mitral valve prolapses, 6 atrial septal defects, 4 patent ductus arteriosus, 3 ventricular septal defects, 2 cases of tetralogy of Fallot, 1 pulmonary stenosis, and 1 bicuspid aortic valve. The presence of CHD did not correlate with the type of cleft. Syndromes occurred in 28 patients (12.7%), and this association was higher among patients with a cleft palate.

  7. Prenetal Detection of Oral Clefts : Diagnostic, Genetic and Ethical Aspects

    NARCIS (Netherlands)

    Maarse, W.

    2015-01-01

    Since the introduction of routine prenatal screening with ultrasound in the Netherlands in 2007, parents are confronted with the diagnosis of oral cleft (OC) already during pregnancy. This imposed a new dimension in cleft care in the Netherlands. As a consequence to increasing prenatal detection rat

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

    Science.gov (United States)

    Klein, Marsha Dunn

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

  9. Transverse facial cleft: A series of 17 cases

    Directory of Open Access Journals (Sweden)

    L K Makhija

    2011-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1996-02-01

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

  11. Effects of Maternal Hypoxia during Pregnancy on Bone Development in Offspring: A Guinea Pig Model

    Directory of Open Access Journals (Sweden)

    Alice M. C. Lee

    2014-01-01

    Full Text Available Low birth weight is associated with reduced bone mass and density in adult life. However, effects of maternal hypoxia (MH on offspring bone development are not known. Objective. The current study investigated the effects of fetal growth restriction induced by MH during the last half of gestation on bone structure and volume in the offspring of the fetus near term and the pup in adolescence. Methods. During 35–62-day gestation (term, 69d, guinea pigs were housed in room air (21% O2; control or 12% O2 (MH. Offspring femur and tibia were collected at 62d gestation and 120d after birth. Results. MH decreased fetal birth weight but did not affect osteogenic potential pools in the fetal bone marrow. Histological analysis showed no effects of MH on tibial growth plate thickness in either fetal or postnatal offspring, although there was increased VEGF mRNA expression in the growth plate of postnatal offspring. MH did not change primary spongiosa height but lowered collagen-1 mRNA expression in postnatal offspring. There was increased mRNA expression of adipogenesis-related gene (FABP4 in bone from the MH postnatal offspring. Conclusion. MH during late gestation did not change the pool of osteogenic cells before birth or growth plate heights before and after birth. However, MH reduced expression of bone formation marker (collagen-1 and increased expression of fat formation marker (FABP4 in postnatal offspring bone.

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

    Science.gov (United States)

    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.

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

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth; Henningsson, Gunilla

    2012-01-01

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

  14. An unusual type of sucking habit in a patient with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Satyaprasad Savitha

    2009-01-01

    Full Text Available Digit sucking, a form of non-nutritive sucking, is a habit of concern to specialist in various fields such as psychiatrist, psychologist, pediatricians, pediatric dentists, orthodontist, speech pathologist and plastic surgeon. The habits have harmful unbalanced pressures to be born by the immature highly malleable alveolar ridges. Sucking behaviors have long been recognized to affect occlusion and dental arch characteristics. As early as 1870s, Campbell and Chandler recognized that prolonged finger or thumb sucking habits had deleterious effects on certain occlusal traits including anterior open bite, increased over jet and class II canine and molar relationships. However, little is known about digit sucking habit and its effect in a cleft lip and palate child as there is no literature till now reported on the digit sucking in a cleft lip patient.

  15. EFFECT OF HOTZ PLATE APPLIANE TO MAXILLARY ARCH DEVELOPMENT PATIENTS WITH CLEFT LIP AND PALATE

    Directory of Open Access Journals (Sweden)

    Edy Machmud

    2015-06-01

    Full Text Available The purpose of this study was to analyze the effect of hotz plate appliance to maxillary arch development of complete unilateral cleft lip and palate patient. The subjects were divided into two groups. The first group consisted of 6 patients, aged under two years with hotz appliance, recruited from Hasan Sadikin Hospital Bandung, and the second group, as control group, consisted of 6 patients, aged under two years, without hotz appliance, recruited from Haji Hosiptal Makassar. It was showed that in group with hotz plate appliance, no difference found on the size of anterior maxillary arch and minor maxillary arch. On the other hand, in the control group, minor maxillary arch was longer than major maxillary arch. It was concluded that hotz plate appliances affected that palatal development of patient with complete unilateral cleft lip and palate.

  16. Cleft Lip Repair: The Hybrid Subunit Method.

    Science.gov (United States)

    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.

  17. Epidemiology of orofacial clefts in Africa: Methodological challenges in ascertainment.

    Directory of Open Access Journals (Sweden)

    Peter Mossey

    2009-04-01

    Full Text Available Background:To carry out a systematic review of the birth prevalence of cleft lip with or without cleft palate (CLP and cleft palate (CP in Africa based on available published data. Methods:Using the Cochrane search strategy and the following keywords words “cleft palate”, “prevalence”, “incidence”, “cleft lip” and “Africa” to screen Ovid Medline (1966 to March 2007, Cinahl (1982-March 2007, Pub Med, Scopus, and Web-Google. All identified published, prospective and retrospective studies on the birth prevalence of CLP and CP in Africa were included. The dates, location, sources, number of births (live births, still births, number of cleft cases, prevalence rates, sex ratio, cleft types, and clefts with associated anomalies were extracted. Results:Ascertainment of cases was through the hospitals. Overall there were 57 CL/P, 56 CL and 36 CP reported from all the studies. From seven studies combined, 21 males and 20 females had CL, 10 males and 22 females with CP and 26 males and 24 females with CL/P. There were 3 cases with CL/P, 2 with CP and 2 with CL from the three studies that reported clefts with associated anomalies. Conclusion:For an improved ascertainment of cleft cases, there is a need to set up a birth defects surveillance system in the form of a national birth registry. Future studies should then aim to include the entire population in geographically defined regions. Reliable data on incidence is an essential pre-requisite for studies into aetiology and prevention.

  18. Presurgical nasoalveolar moulding in unilateral cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Mohammed Zuhaib

    2016-01-01

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

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

    NARCIS (Netherlands)

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

    2013-01-01

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

  20. ALTERNATIVE APPROACH IN THE TREATMENT OF A GINGIVAL CLEFT ASSOCIATED WITH LABIAL FRENULUM. A 3-YEAR FOLLOW-UP. (Case Report

    Directory of Open Access Journals (Sweden)

    Kamen Kotsilkov

    2015-07-01

    Full Text Available INTRODUCTION: The term Gingival cleft refers to a fissure in the gingival tissues and is usually caused by traumatic oral hygiene, abnormal frenula, trauma from occlusion, orthodontic, or pierce related trauma. Gingival clefts are classified depending on the extent of the inclusion of the gingival thickness into red and white. The recommended treatment approach for the incomplete white clefts is the gingivectomy of the affected keratinized tissue followed by a coronally advanced flap for the root coveradge, while the complete white clefts are treated with a laterally moved, coronally advanced flap, or a free gingival graft procedure. OBJECTIVE: This report presents a case with a spontaneous healing of an incomplete gingival cleft associated with a maxillary labial frenulum after an alternative frenuloectomy approach. METHODS: M.G. (45 with a localized chronic periodontitis, an abnormal papillary maxillary frenulum and an incomplete white cleft on the marginal gingiva of the left central incisor. An alternative frenuloectomy approach combined with a free gingival graft was selected for the correction of the abnormal frenulum. RESULTS:On the sixth month after the surgical procedure an almost complete recovery of the gingival margin was observed.The result at the third year demonstrates a stable gingival margin with a complete tissue recovery. CONCLUSION: The applied combined surgical approach led to a complete gingival recovery of the incomplete white gingival cleft without the commonly used gingivectomy and CAF. Further research is recommended to clarify the adjunctive benefits of the FGG in patients with gingival clefts associated with abnormal frenula.

  1. Effects of among-offspring relatedness on the origins and evolution of parental care and filial cannibalism.

    Science.gov (United States)

    Bonsall, M B; Klug, H

    2011-06-01

    Parental care is expected to increase the likelihood of offspring survival at the cost of investment in future reproductive success. However, alternative parental behaviours, such as filial cannibalism, can decrease current reproductive success and consequently individual fitness. We evaluate the role of among-offspring relatedness on the evolution of parental care and filial cannibalism. Building on our previous work, we show how the evolution of care is influenced by the effect of among-offspring relatedness on both the strength of competition and filial cannibalism. When there is a positive relationship between among-offspring competition and relatedness, parental care will be favoured when among-offspring relatedness is relatively low, and the maintenance of both care and no-care strategies is expected. If the relationship between among-offspring competition and relatedness is negative, parental care is most strongly favoured when broods contain highly related offspring. Further, we highlight the range of conditions over which the level of this among-offspring relatedness can affect the co-occurrence of different care/no care and cannibalism/no cannibalism strategies. Coexistence of multiple strategies is independent of the effects of among-offspring relatedness on cannibalism but more likely when among-offspring relatedness and competition are positively associated.

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

    NARCIS (Netherlands)

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

    2009-01-01

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

  3. SOME EPIDEMIOLOGIC DATA ON ORAL CLEFTS IN THE NORTHERN NETHERLANDS, 1981-1988

    NARCIS (Netherlands)

    CORNEL, MC; SPREEN, JA; MEIJER, [No Value; SPAUWEN, PHM; DHAR, BK; TENKATE, LP

    1992-01-01

    Cleft lip with or without cleft palate [CL(P)] has a high incidence in the northern Netherlands. Several epidemiological parameters for oral clefts, including both CL(P) and cleft palate (CP), were analysed and compared with the literature. Except for the high prevalence at birth of isolated CL(P) n

  4. Mild maternal stress disrupts associative learning and increases aggression in offspring.

    Science.gov (United States)

    Eaton, L; Edmonds, E J; Henry, T B; Snellgrove, D L; Sloman, K A

    2015-05-01

    Maternal stress has been shown to affect behaviour of offspring in a wide range of animals, but this evidence has come from studies that exposed gestating mothers to acute or severe stressors, such as restraint or exposure to synthetic stress hormones. Here we show that exposure of mothers to even a mild stressor reduces associative learning and increases aggression in offspring. Female guppies were exposed to routine husbandry procedures that produced only a minimal, non-significant, elevation of the stress hormone cortisol. In contrast to controls, offspring from mothers that experienced this mild stress failed to learn to associate a colour cue and food reward, and showed a greater amount of inter-individual variation in behaviour compared with control offspring. This mild stress also resulted in offspring that were more aggressive towards their own mirror image than controls. While it is possible that these results could represent the transmission of beneficial maternal characteristics to offspring born into unpredictable environments, the potential for mild maternal stress to affect offspring performance also has important implications for research into the trans-generational effects of stress.

  5. Clinical photography among African cleft caregivers

    Directory of Open Access Journals (Sweden)

    Peter Babatunde Olaitan

    2011-01-01

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

  6. Clinical photography among African cleft caregivers

    Science.gov (United States)

    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

  7. Maternal preconceptional nutrition leads to variable fat deposition and gut dimensions of adult offspring mice (C57BL/6JBom)

    DEFF Research Database (Denmark)

    Mortensen, Elna Louise Krogh; Wang, Tobias; Malte, H.;

    2010-01-01

    Background:   Maternal nutrition during pregnancy or lactation may affect the chance of offspring becoming obese as adults, but little is known regarding the possible role of maternal nutrition before conception. In this study, we investigate how variable protein and carbohydrate content...... of the diet consumed before pregnancy affects fat deposition and gut dimensions of offspring mice. Methods:   Eight-week-old female mice (C57BL/6JBom) were fed isocaloric low protein (8.4% protein; LP), standard protein (21.5% protein; ST) or high protein (44.2% protein; HP) diets. After 8 weeks of feeding...... taken. Results:   Fat deposition of the offspring was significantly affected by preconceptional maternal nutrition and the effects differed between sexes. Male offspring deposited most fat when mothers were fed the LP diet, whereas female offspring deposited most fat when mothers were fed the ST diet...

  8. Paternal irradiation perturbs the expression of circadian genes in offspring

    Energy Technology Data Exchange (ETDEWEB)

    Gomes, Andre M.G.F.; Barber, Ruth C.; Dubrova, Yuri E., E-mail: yed2@le.ac.uk

    2015-05-15

    Highlights: • We have analysed gene expression in the offspring of irradiated male mice. • CBA/Ca and BALB/c male mice were used in our study. • The pattern of gene expression was established in four tissues. • Expression of genes in involved in rhythmic process/circadian rhythm is compromised. • Our data may explain the phenomenon of transgenerational genomic instability. - Abstract: The circadian system represents a complex network which influences the timing of many biological processes. Recent studies have established that circadian alterations play an important role in the susceptibility to many human diseases, including cancer. Here we report that paternal irradiation in mice significantly affects the expression of genes involved in rhythmic processes in their first-generation offspring. Using microarrays, the patterns of gene expression were established for brain, kidney, liver and spleen samples from the non-exposed offspring of irradiated CBA/Ca and BALB/c male mice. The most over-represented categories among the genes differentially expressed in the offspring of control and irradiated males were those involved in rhythmic process, circadian rhythm and DNA-dependent regulation of transcription. The results of our study therefore provide a plausible explanation for the transgenerational effects of paternal irradiation, including increased transgenerational carcinogenesis described in other studies.

  9. Lifetime psychopathology among the offspring of Bipolar I parents

    Directory of Open Access Journals (Sweden)

    Marcelo C. Zappitelli

    2011-01-01

    Full Text Available BACKGROUND: Recent studies have demonstrated high rates of psychopathology in the offspring of parents with bipolar disorder. The aim of this study was to identify psychiatric diagnoses in a sample of children of bipolar parents. METHOD: This case series comprised 35 children and adolescents aged 6 to 17 years, with a mean age of 12.5 + 2.9 years (20 males and 15 females, who had at least one parent with bipolar disorder type I. The subjects were assessed using the Schedule for Affective Disorders and Schizophrenia for School-Age Children - Present and Lifetime version (K-SADS-PL. Family psychiatric history and demographics were also evaluated. RESULTS: Of the offspring studied, 71.4% had a lifetime diagnosis of at least one psychiatric disorder (28.6% with a mood disorder, 40% with a disruptive behavior disorder and 20% with an anxiety disorder. Pure mood disorders (11.4% occurred less frequently than mood disorders comorbid with attention deficit hyperactivity disorder (17.1%. Psychopathology was commonly reported in second-degree relatives of the offspring of parents with bipolar disorder (71.4%. CONCLUSIONS: Our results support previous findings of an increased risk for developing psychopathology, predominantly mood and disruptive disorders, in the offspring of bipolar individuals. Prospective studies with larger samples are needed to confirm and expand these results.

  10. Maternal effects on offspring mortality in rhesus macaques (Macaca mulatta).

    Science.gov (United States)

    Blomquist, Gregory E

    2013-03-01

    The genetics of primate life histories are poorly understood, but quantitative genetic patterns in other mammals suggest phenotypic differences among individuals early in life can be strongly affected by interactions with mothers or other caretakers. I used generalized linear mixed model extensions of complex pedigree quantitative genetic techniques to explore regression coefficients and variance components for infant and juvenile mortality rates across prereproductive age classes in the semifree ranging Cayo Santiago rhesus macaques. Using a large set of records (maximum n = 977 mothers, 6,240 offspring), strong maternal effects can be identified early in development but they rapidly "burn off" as offspring age and mothers become less consistent buffers from increasingly prominent environmental variation. The different ways behavioral ecologists and animal breeders have defined and studied maternal effects can be subsumed, and even blended, within the quantitative genetic framework. Regression coefficients identify loss of the mother, maternal age, and offspring age within their birth cohort as having significant maternal effects on offspring mortality, while variance components for maternal identity record significant maternal influence in the first month of life.

  11. Do children transcend death? An examination of the terror management function of offspring.

    Science.gov (United States)

    Zhou, Xinyue; Liu, Jing; Chen, Chengchao; Yu, Zonghuo

    2008-10-01

    The concept of offspring provides a symbolic shield against the fear of death. The existential function of offspring was examined in two studies conducted in China employing real-life dependent measures. In Study 1, reminders of death through a word-completion task increased the disapproval of a birth-control policy in China. In Study 2, hospitalized patients generally preferred young family members more than other family members. Cancer patients showed this preference to a greater extent than non-cancer patients. Taken together, the findings showed that the death-anxiety-buffering function of offspring affects people's judgments and desires in real-life settings.

  12. Children's Listening with Cleft Lip and Palate in the School

    Directory of Open Access Journals (Sweden)

    Manoel, Rosana Ribeiro

    2010-09-01

    Full Text Available Introduction: A great similarity between the patients with cleft lip and palate' behavior and those with auditory processing disorder are related by parents and professors. Objective: To verify the listening in children with cleft lip and palate in six conditions of listening. Method: Professors of 224 students (7 to 11 years old with cleft completed a questionnaire aiming to judge the student listening in the noise, ideal condition, with multiple stimulus, in the silence, when it is solicited to remember the listened information and during a lengthy period of listening, comparing it to the other of the same age and listening condition, without cleft. A Prospective Study. Results: The mean of the trial (-0, 08, standard deviation of 0,27 of the students with cleft, performed by professor was about the "same difficulty" (zero, when compared with the student without cleft. It was not found statistical significance to anyone conditions, neither to the total value of the questionnaire, considering the gender nor the school year level. Conclusion: The listening characteristics of the students with cleft lip and palate were similar to the other without this craniofacial deformity of the same age and similar listening condition. In the noise, the conditions more difficult occurred when the memory and the auditory attention were required.

  13. Syndromes associated with labiopalatine clefting: A report of three cases

    Directory of Open Access Journals (Sweden)

    Thomas A

    2008-06-01

    Full Text Available Clefts of the lip and palate are a common craniofacial anomaly, The etiology is thought to be multifactorial, with both genetic and environmental factors playing a role. Because of the frequent manifestation of cleft lip and palate in association with some syndromes, it is essential that a detailed examination of these patients be carried out. This facilitates early formulation of preventive and treatment advice and aids in overcoming gross deformities in the early stages of development. In this paper, we review three such patients who presented with cleft lip and palate in association with a syndrome.

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

    Directory of Open Access Journals (Sweden)

    Surekha Chavan

    2014-01-01

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

  15. Geographical differences in maternal basking behaviour and offspring growth rate in a climatically widespread viviparous reptile.

    Science.gov (United States)

    Cadby, Chloé D; Jones, Susan M; Wapstra, Erik

    2014-04-01

    In reptiles, the thermal environment during embryonic development affects offspring phenotypic traits and potentially offspring fitness. In viviparous species, mothers can potentially manipulate the embryonic thermal environment through their basking behaviour and, thus, may be able to manipulate offspring phenotype and increase offspring fitness. One way in which mothers can maximise offspring phenotype (and thus potentially affect offspring fitness) is by fine-tuning their basking behaviour to the environment in order to buffer the embryo from deleterious developmental temperatures. In widespread species, it is unclear whether populations that have evolved under different climatic conditions will exhibit different maternal behaviours and/or thermal effects on offspring phenotype. To test this, we provided extended or reduced basking opportunity to gravid spotted skinks (Niveoscincus ocellatus) and their offspring from two populations at the climatic extremes of the species' distribution. Gravid females fine-tuned their basking behaviour to the basking opportunity, which allowed them to buffer their embryos from potentially negative thermal effects. This fine-tuning of female basking behaviour appears to have led to the expression of geographical differences in basking behaviour, with females from the cold alpine regions being more opportunistic in their basking behaviour than females from the warmer regions. However, those differences in maternal behaviour did not preclude the evolution of geographic differences in thermal effects: offspring growth varied between populations, potentially suggesting local adaptation to basking conditions. Our results demonstrate that maternal effects and phenotypic plasticity can play a significant role in allowing species to cope in changing environmental conditions, which is particularly relevant in the context of climate change.

  16. Candidate pathway based analysis for cleft lip with or without cleft palate.

    Science.gov (United States)

    Zhang, Tian-Xiao; Beaty, Terri H; Ruczinski, Ingo

    2012-01-06

    The objective of this research was to identify potential biological pathways associated with non-syndromic cleft lip with or without cleft palate (NSCL/P), and to explore the potential biological mechanisms underlying these associated pathways on risk of NSCL/P. This project was based on the dataset of a previously published genome-wide association (GWA) study on NSCL/P (Beaty et al. 2010). Case-parent trios used here originated from an international consortium (The Gene, Environment Association Studies consortium, GENEVA) formed in 2007. A total of 5,742 individuals from 1,908 CL/P case-parents trios (1,591 complete trios and 317 incomplete trios where one parent was missing) were collected and genotyped using the Illumina Human610-Quad array. Candidate pathways were selected using a list of 356 genes that may be related to oral clefts. In total, 42 candidate pathways, which included 1,564 genes and 40,208 SNPs were tested. Using a pathway-based analysis approach proposed by Wang et al (2007), we conducted a permutation-based test to assess the statistical significance of the nominal p-values of 42 candidate pathways. The analysis revealed several pathways yielding nominally significant p-values. However, controlling for the family wise error rate, none of these pathways could retain statistical significance. Nominal p-values of these pathways were concentrated at the lower tail of the distribution, with more than expected low p-values. A permutation based test for examining this type of distribution pattern yielded an overall p-value of 0.029. Thus, while this pathway-based analysis did not yield a clear significant result for any particular pathway, we conclude that one or more of the genes and pathways considered here likely do play a role in oral clefting.

  17. Premaxillary Repositioning in the Severe Form of Bilateral Cleft Lip and Palate.

    Science.gov (United States)

    Koh, Kyung S; Han, Woo Yeon; Jeong, Woo Shik; Oh, Tae Suk; Kwon, Sun Man; Choi, Jong Woo

    2016-09-01

    Severe forms of bilateral cleft lip and palate remain a challenging issue. Although nasoalveolar molding dramatically improves overall treatment success, the position of the premaxilla often remains dislocated. The authors attempted to relocate the malpositioned premaxilla into the correct position to obtain the correct three-dimensional (3D) maxillary arch structure and growth. Eight patients with severe bilateral cleft lip and palate were treated with premaxillary osteotomy for premaxilla repositioning. The position of the premaxilla was measured directly using cephalometry. Two raters including orthodontists evaluated the 3D (anteroposterior, transverse, and sagittal) outcomes. Regarding the long-term effects of premaxillary repositioning on midfacial growth, 3D computed tomography scan data were used, including the measurement of the SNA, SNB, and ANB angles according to the time period (T0: preoperative; T1: immediate postoperative; T2: long-term postoperative). All bilateral cleft lips and palates were satisfactorily repaired without any complications, including any premaxillary vascular compromise, nonunion, and occlusal instability. The average visual analog scale scores (0-5) of the anteroposterior, vertical, and transverse dimensions were 3.9, 3.7, and 3.2, respectively. Regarding the effect of premaxillary repositioning on midfacial hypoplasia, the change in the ANB between T1 and T2 was not significant, implying that premaxillary repositioning did not affect the long-term harmony between the maxilla and mandible (ANB of T2-T1: P = 0.1016) based on interim growth data at the time of follow-up and study completion. Premaxillary repositioning effectively corrected the malpositioned premaxilla and repaired the accompanying wide alveolar cleft, achieving successful restoration of maxillary arch coordination. In addition, premaxillary osteotomy after 8 years of age does not seem to cause significant maxillary retrusion.

  18. Trans-oral endoscopic partial adenoidectomy does not worsen the speech after cleft palate repair

    Directory of Open Access Journals (Sweden)

    Mosaad Abdel-Aziz

    Full Text Available ABSTRACT INTRODUCTION: Adenoid hypertrophy may play a role in velopharyngeal closure especially in patients with palatal abnormality; adenoidectomy may lead to velopharyngeal insufficiency and hyper nasal speech. Patients with cleft palate even after repair should not undergo adenoidectomy unless absolutely needed, and in such situations, conservative or partial adenoidectomy is performed to avoid the occurrence of velopharyngeal insufficiency. Trans-oral endoscopic adenoidectomy enables the surgeon to inspect the velopharyngeal valve during the procedure. OBJECTIVE: The aim of this study was to assess the effect of transoral endoscopic partial adenoidectomy on the speech of children with repaired cleft palate. METHODS: Twenty children with repaired cleft palate underwent transoral endoscopic partial adenoidectomy to relieve their airway obstruction. The procedure was completely visualized with the use of a 70° 4 mm nasal endoscope; the upper part of the adenoid was removed using adenoid curette and St. Claire Thompson forceps, while the lower part was retained to maintain the velopharyngeal competence. Preoperative and postoperative evaluation of speech was performed, subjectively by auditory perceptual assessment, and objectively by nasometric assessment. RESULTS: Speech was not adversely affected after surgery. The difference between preoperative and postoperative auditory perceptual assessment and nasalance scores for nasal and oral sentences was insignificant (p = 0.231, 0.442, 0.118 respectively. CONCLUSIONS: Transoral endoscopic partial adenoidectomy is a safe method; it does not worsen the speech of repaired cleft palate patients. It enables the surgeon to strictly inspect the velopharyngeal valve during the procedure with better determination of the adenoidal part that may contribute in velopharyngeal closure.

  19. Nasal airway and septal variation in unilateral and bilateral cleft lip and palate.

    Science.gov (United States)

    Starbuck, John M; Friel, Michael T; Ghoneima, Ahmed; Flores, Roberto L; Tholpady, Sunil; Kula, Katherine

    2014-10-01

    Cleft lip and palate (CLP) affects the dentoalveolar and nasolabial facial regions. Internal and external nasal dysmorphology may persist in individuals born with CLP despite surgical interventions. 7-18 year old individuals born with unilateral and bilateral CLP (n = 50) were retrospectively assessed using cone beam computed tomography. Anterior, middle, and posterior nasal airway volumes were measured on each facial side. Septal deviation was measured at the anterior and posterior nasal spine, and the midpoint between these two locations. Data were evaluated using principal components analysis (PCA), multivariate analysis of variance (MANOVA), and post-hoc ANOVA tests. PCA results show partial separation in high dimensional space along PC1 (48.5% variance) based on age groups and partial separation along PC2 (29.8% variance) based on CLP type and septal deviation patterns. MANOVA results indicate that age (P = 0.007) and CLP type (P ≤ 0.001) significantly affect nasal airway volume and septal deviation. ANOVA results indicate that anterior nasal volume is significantly affected by age (P ≤ 0.001), whereas septal deviation patterns are significantly affected by CLP type (P ≤ 0.001). Age and CLP type affect nasal airway volume and septal deviation patterns. Nasal airway volumes tend to be reduced on the clefted sides of the face relative to non-clefted sides of the face. Nasal airway volumes tend to strongly increase with age, whereas septal deviation values tend to increase only slightly with age. These results suggest that functional nasal breathing may be impaired in individuals born with the unilateral and bilateral CLP deformity.

  20. Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts.

    Science.gov (United States)

    Chevrier, Cécile; Perret, Claire; Bahuau, Michel; Zhu, Huiping; Nelva, Agnès; Herman, Christine; Francannet, Christine; Robert-Gnansia, Elisabeth; Finnell, Richard H; Cordier, Sylvaine

    2007-02-01

    The association between maternal folate intake and risk of nonsyndromic oral clefts has been studied among many populations with conflicting results. The methylenetetrahydrofolate reductase gene (MTHFR) plays a major role in folate metabolism, and several polymorphisms, including C677T, are common in European populations. Data from a French study (1998-2001) let us investigate the roles of maternal dietary folate intake and the MTHFR polymorphism and their interaction on the risk of cleft lip with/without cleft palate (CL/P) and cleft palate only (CP). We used both case-control (164 CL/P, 76 CP, 236 controls; 148, 59, 168 of whom, respectively, had an available genotype) and case-parent (143 CL/P and 56 CP families) study designs and distinguished the role of the child's genotype and maternally mediated effects on risks. This study observed a beneficial effect of mothers' dietary folate intake on their offspring's risk (odds ratio (OR)(P, OR([230-314 microg/day]) = 0.56, 95% confidence interval = 0.3-0.9, OR(>314 microg/day) = 0.64, 0.4-1.1; for CP, OR([230-314 microg/day]) = 1.15, 0.6-2.2, OR(>314 microg/day) = 0.70, 0.3-1.4). We observed a reduced risk associated with the TT genotype of the child in the case-control analysis (OR(CC) = ref; for CL/P, OR(TT) = 0.54, 0.3-1.1; for CP, OR(TT) = 0.33, 0.1-1.0); this genotype, either fetal or maternal, was not statistically significant in the case-parent analysis. A frequency of TT genotype higher in our control group than previously reported in France can partly explain the risk reduction observed in case-control comparison. Interactions were not statistically significant. Stratified case-parent analysis showed, however, slight heterogeneity in the role of TT genotype according to folate intake. The modest sample size limits this study, which nonetheless provides new estimate of the possible impact of dietary folate intake and MTHFR polymorphism on oral clefts.

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

    Science.gov (United States)

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

    2016-06-01

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

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

    Directory of Open Access Journals (Sweden)

    Astanand Jugessur

    Full Text Available BACKGROUND: Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark: 235 case-parent triads. METHODOLOGY/PRINCIPAL FINDINGS: We used two complementary statistical methods, TRIMM and HAPLIN, to look for associations across these two national samples. TRIMM tests for association in each gene by using multi-SNP genotypes from case-parent triads directly without the need to infer haplotypes. HAPLIN on the other hand estimates the full haplotype distribution over a set of SNPs and estimates relative risks associated with each haplotype. For isolated cleft lip with or without cleft palate (I-CL/P, TRIMM and HAPLIN both identified significant associations with IRF6 and ADH1C in both populations, but only HAPLIN found an association with FGF12. For isolated cleft palate (I-CP, TRIMM found associations with ALX3, MKX, and PDGFC in both populations, but only the association with PDGFC was identified by HAPLIN. In addition, HAPLIN identified an association with ETV5 that was not detected by TRIMM. CONCLUSION/SIGNIFICANCE: Strong associations with seven genes were replicated in the Scandinavian samples and our approach effectively replicated the strongest previously known association in clefting--with IRF6. Based on two national cleft cohorts of similar ancestry, two robust statistical methods and a large panel of SNPs in the most promising cleft candidate genes to date, this study identified a previously unknown association with clefting for ADH1C and provides additional candidates and analytic approaches to advance the field.

  3. Mother's exercise during pregnancy programmes vasomotor function in adult offspring.

    Science.gov (United States)

    Bahls, Martin; Sheldon, Ryan D; Taheripour, Pardis; Clifford, Kerry A; Foust, Kallie B; Breslin, Emily D; Marchant-Forde, Jeremy N; Cabot, Ryan A; Harold Laughlin, M; Bidwell, Christopher A; Newcomer, Sean C

    2014-01-01

    The intrauterine environment is influenced by maternal behaviour and programmes atherosclerotic disease susceptibility in offspring. The aim of this investigation was to test the hypothesis that mothers' exercise during pregnancy improves endothelial function in 3-, 5- and 9-month-old porcine offspring. The pregnant sows in the exercise group ran for an average of 39.35 ± 0.75 min at 4.81 ± 0.35 km h(-1) each day for 5 days per week for all but the last week of gestation. This induced a significant reduction in resting heart rate (exercised group, 89.3 ± 3.5 beats min(-1); sedentary group, 102.1 ± 3.1 beats min(-1); P < 0.05) but no significant differences in gestational weight gain (65.8 ± 2.1 versus 63.3 ± 1.9%). No significant effect on bradykinin-induced vasorelaxation with and without l-NAME was observed. A significant main effect was identified on sodium nitroprusside-induced vasorelaxation (P = 0.01), manifested by a reduced response in femoral arteries of all age groups from exercised-trained swine. Nitric oxide signalling was not affected by maternal exercise. Protein expression of MYPT1 was reduced in femoral arteries from 3-month-old offspring of exercised animals. A significant interaction was observed for PPP1R14A (P < 0.05) transcript abundance and its protein product CPI-17. In conclusion, pregnant swine are able to complete an exercise-training protocol that matches the current recommendations for pregnant women. Gestational exercise is a potent stimulus for programming vascular smooth muscle relaxation in adult offspring. Specifically, exercise training for the finite duration of pregnancy decreases vascular smooth muscle responsiveness in adult offspring to an exogenous nitric oxide donor.

  4. Transgenerational effects of stress exposure on offspring phenotypes in apomictic dandelion.

    Science.gov (United States)

    Verhoeven, Koen J F; van Gurp, Thomas P

    2012-01-01

    Heritable epigenetic modulation of gene expression is a candidate mechanism to explain parental environmental effects on offspring phenotypes, but current evidence for environment-induced epigenetic changes that persist in offspring generations is scarce. In apomictic dandelions, exposure to various stresses was previously shown to heritably alter DNA methylation patterns. In this study we explore whether these induced changes are accompanied by heritable effects on offspring phenotypes. We observed effects of parental jasmonic acid treatment on offspring specific leaf area and on offspring interaction with a generalist herbivore; and of parental nutrient stress on offspring root-shoot biomass ratio, tissue P-content and leaf morphology. Some of the effects appeared to enhance offspring ability to cope with the same stresses that their parents experienced. Effects differed between apomictic genotypes and were not always consistently observed between different experiments, especially in the case of parental nutrient stress. While this context-dependency of the effects remains to be further clarified, the total set of results provides evidence for the existence of transgenerational effects in apomictic dandelions. Zebularine treatment affected the within-generation response to nutrient stress, pointing at a role of DNA methylation in phenotypic plasticity to nutrient environments. This study shows that stress exposure in apomictic dandelions can cause transgenerational phenotypic effects, in addition to previously demonstrated transgenerational DNA methylation effects.

  5. Transgenerational effects of stress exposure on offspring phenotypes in apomictic dandelion.

    Directory of Open Access Journals (Sweden)

    Koen J F Verhoeven

    Full Text Available Heritable epigenetic modulation of gene expression is a candidate mechanism to explain parental environmental effects on offspring phenotypes, but current evidence for environment-induced epigenetic changes that persist in offspring generations is scarce. In apomictic dandelions, exposure to various stresses was previously shown to heritably alter DNA methylation patterns. In this study we explore whether these induced changes are accompanied by heritable effects on offspring phenotypes. We observed effects of parental jasmonic acid treatment on offspring specific leaf area and on offspring interaction with a generalist herbivore; and of parental nutrient stress on offspring root-shoot biomass ratio, tissue P-content and leaf morphology. Some of the effects appeared to enhance offspring ability to cope with the same stresses that their parents experienced. Effects differed between apomictic genotypes and were not always consistently observed between different experiments, especially in the case of parental nutrient stress. While this context-dependency of the effects remains to be further clarified, the total set of results provides evidence for the existence of transgenerational effects in apomictic dandelions. Zebularine treatment affected the within-generation response to nutrient stress, pointing at a role of DNA methylation in phenotypic plasticity to nutrient environments. This study shows that stress exposure in apomictic dandelions can cause transgenerational phenotypic effects, in addition to previously demonstrated transgenerational DNA methylation effects.

  6. Pre- and/or postnatal protein restriction in rats impairs learning and motivation in male offspring.

    Science.gov (United States)

    Reyes-Castro, L A; Rodriguez, J S; Rodríguez-González, G L; Wimmer, R D; McDonald, T J; Larrea, F; Nathanielsz, P W; Zambrano, E

    2011-04-01

    Suboptimal developmental environments program offspring to lifelong health complications including affective and cognitive disorders. Little is known about the effects of suboptimal intra-uterine environments on associative learning and motivational behavior. We hypothesized that maternal isocaloric low protein diet during pregnancy and lactation would impair offspring associative learning and motivation as measured by operant conditioning and the progressive ratio task, respectively. Control mothers were fed 20% casein (C) and restricted mothers (R) 10% casein to provide four groups: CC, RR, CR, and RC (first letter pregnancy diet and second letter lactation diet), to evaluate effects of maternal diet on male offspring behavior. Impaired learning was observed during fixed ratio-1 operant conditioning in RC offspring that required more sessions to learn vs. the CC offspring (9.4±0.8 and 3.8±0.3 sessions, respectively, ppositive reinforcement vs. the CC offspring (131.5±7.5, pnegative developmental programming effects due to perinatal isocaloric low protein diet on learning and motivation behavior with the nutritional challenge in the prenatal period showing more vulnerability in offspring behavior.

  7. Maternal care, mother-offspring aggregation and age-dependent coadaptation in the European earwig.

    Science.gov (United States)

    Gómez, Y; Kölliker, M

    2013-09-01

    Benefits and costs of parental care are expected to change with offspring development and lead to age-dependent coadaptation expressed as phenotypic (behavioural) matches between offspring age and parental reproductive stage. Parents and offspring interact repeatedly over time for the provision of parental care. Their behaviours should be accordingly adjusted to each other dynamically and adaptively, and the phenotypic match between offspring age and parental stage should stabilize the repeated behavioural interactions. In the European earwig (Forficula auricularia), maternal care is beneficial for offspring survival, but not vital, allowing us to investigate the extent to which the stability of mother-offspring aggregation is shaped by age-dependent coadaptation. In this study, we experimentally cross-fostered nymphs of different age classes (younger or older) between females in early or late reproductive stage to disrupt age-dependent coadaptation, thereby generating female-nymph dyads that were phenotypically matched or mismatched. The results revealed a higher stability in aggregation during the first larval instar when care is most intense, a steeper decline in aggregation tendency over developmental time and a reduced developmental rate in matched compared with mismatched families. Furthermore, nymph survival was positively correlated with female-nymph aggregation stability during the early stages when maternal care is most prevalent. These results support the hypothesis that age-related phenotypically plastic coadaptation affects family dynamics and offspring developmental rate.

  8. Perception of parents about the auditory attention skills of his kid with cleft lip and palate: retrospective study

    Directory of Open Access Journals (Sweden)

    Mondelli, Maria Fernanda Capoani Garcia

    2012-01-01

    Full Text Available Introduction: To process and decode the acoustic stimulation are necessary cognitive and neurophysiological mechanisms. The hearing stimulation is influenced by cognitive factor from the highest levels, such as the memory, attention and learning. The sensory deprivation caused by hearing loss from the conductive type, frequently in population with cleft lip and palate, can affect many cognitive functions - among them the attention, besides harm the school performance, linguistic and interpersonal. Objective: Verify the perception of the parents of children with cleft lip and palate about the hearing attention of their kids. Method: Retrospective study of infants with any type of cleft lip and palate, without any genetic syndrome associate which parents answered a relevant questionnaire about the auditory attention skills. Results: 44 are from the male kind and 26 from the female kind, 35,71% of the answers were affirmative for the hearing loss and 71,43% to otologic infections. Conclusion: Most of the interviewed parents pointed at least one of the behaviors related to attention contained in the questionnaire, indicating that the presence of cleft lip and palate can be related to difficulties in hearing attention.

  9. Oxidative stress in mouse sperm impairs embryo development, fetal growth and alters adiposity and glucose regulation in female offspring.

    Directory of Open Access Journals (Sweden)

    Michelle Lane

    Full Text Available Paternal health cues are able to program the health of the next generation however the mechanism for this transmission is unknown. Reactive oxygen species (ROS are increased in many paternal pathologies, some of which program offspring health, and are known to induce DNA damage and alter the methylation pattern of chromatin. We therefore investigated whether a chemically induced increase of ROS in sperm impairs embryo, pregnancy and offspring health. Mouse sperm was exposed to 1500 µM of hydrogen peroxide (H2O2, which induced oxidative damage, however did not affect sperm motility or the ability to bind and fertilize an oocyte. Sperm treated with H2O2 delayed on-time development of subsequent embryos, decreased the ratio of inner cell mass cells (ICM in the resulting blastocyst and reduced implantation rates. Crown-rump length at day 18 of gestation was also reduced in offspring produced by H2O2 treated sperm. Female offspring from H2O2 treated sperm were smaller, became glucose intolerant and accumulated increased levels of adipose tissue compared to control female offspring. Interestingly male offspring phenotype was less severe with increases in fat depots only seen at 4 weeks of age, which was restored to that of control offspring later in life, demonstrating sex-specific impacts on offspring. This study implicates elevated sperm ROS concentrations, which are common to many paternal health pathologies, as a mediator of programming offspring for metabolic syndrome and obesity.

  10. Weight Comparison of Patients with Cleft Lip and Palate and Normal%唇腭裂患者与正常人体重的比较

    Institute of Scientific and Technical Information of China (English)

    李建平; 吴纪楠; 李运良

    2011-01-01

    Objective The purpose of this study was to compare the weight between patients with cleft lip and palate and normal controls without cleft in a Hunan cohort aged from 3 months to 30 years old, and to analysis the reasons affecting the weight of the congenital cleft patients in all development stages. Methods Weights of different age-groups of 1939 patients with cleft lip and palate were compared to normal controls, while the patients with simple cleft lip were also compared with those with simple cleft palate. Results Weight of patients with cleft lip and palate in different age groups were lower than those of normal control group. There were statistically significant differences ( P< 0.001 - 0.05 ). There was no statistically significance in weight difference between simple cleft lip and simple cleft palate. Conclusion Weight of patients with cleft lip and palate is lower than those of normal control group.%目的 研究3个月~ 30岁唇腭裂患者与正常同龄人的体重差别,分析唇腭裂患者各生长阶段影响其体重的主要因素.方法 唇腭裂患者1 939例,年龄3个月~30岁,按不同年龄分组,与正常对照组分性别进行体重比较,并对单纯性唇裂及单纯性腭裂患者之间体重进行比较,采用t检验.结果 各年龄组唇腭裂患者体重均较正常对照组偏低,差异有统计学意义(P<0.05);各年龄组单纯性唇裂与单纯性腭裂患者体重差异无统计学意义(P>0.05).结论 唇腭裂患者各生长阶段的体重较正常偏低.

  11. Computational Embryology and Predictive Toxicology of Cleft Palate

    Science.gov (United States)

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

  12. Characteristics of the Thermal Ion Bulk Parameters in the Cleft

    Science.gov (United States)

    Coffey, V. N.; Chandler, M. O.; Moore, T. E.

    1997-01-01

    Bulk parameters for the thermal ions (0.3 to 25 eV) have been derived using data from the Scanning Thermal Ion Composition Spectrometer (STICS) on the Sounding of the Cleft Ion Fountain Energization Region (SCIFER) experiment. The SCIFER rocket was launched into the ionospheric cleft region at 1000 MLT with a maximum altitude of 1450 km. The heated cleft plasma was observed to be H(+) dominated, in sharp contrast with observations of the same region near solar maximum. Regions of particular interest include the sharp, heated equatorward wall of the cleft and highly structured patches of transversely-accelerated ions (TAI). Densities, temperatures and velocities are used to characterize and distinguish these regions and to compare to predicted bulk parameters from candidate heating mechanisms.

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

    Science.gov (United States)

    McDonald, Eugene T.; Berlin, Asa J.

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

  14. Childhood trauma and HPA axis functionality in offspring of bipolar parents.

    Science.gov (United States)

    Schreuder, Merel M; Vinkers, Christiaan H; Mesman, Esther; Claes, Stephan; Nolen, Willem A; Hillegers, Manon H J

    2016-12-01

    Children of a parent with bipolar disorder (bipolar offspring) have an increased risk for mood disorders. While genetic factors play a significant role in this population, susceptibility to environmental stress may also significantly contribute to this vulnerability for mood disorders. Childhood trauma has consistently been found to increase the risk for mood disorders, with persisting consequences for hypothalamic-pituitary-adrenal (HPA) axis functionality. However, it is currently unknown whether childhood trauma specifically affects HPA axis activity in individuals with a familial risk for bipolar disorder. Therefore, we investigated the effects of childhood trauma on daytime and evening cortisol levels and dexamethasone suppression in bipolar offspring (N=70) and healthy controls (N=44). In our study we found no significant differences in daytime and evening cortisol levels as well as dexamethasone suppression between bipolar offspring and healthy controls (all p-values>0.43). In contrast, childhood trauma differentially affected daytime cortisol levels in the bipolar offspring compared to healthy controls (childhood trauma X bipolar offspring interaction, β=-7.310, p=0.0414) with an effect of childhood trauma on daytime cortisol in bipolar offspring at trend level (p=0.058). In the bipolar offspring group, lifetime or current psychiatric diagnoses, and stressful life events separately did not affect cortisol levels or dexamethasone suppression (all p-values>p=0.50). These findings were independent of current or lifetime psychiatric diagnosis. In conclusion, trauma-related changes in daytime HPA axis activity appear to be a specific trait in bipolar offspring who have increased risk for mood disorders compared to healthy individuals.

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

    Science.gov (United States)

    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.

  16. Nasalance measures in German-speaking cleft patients.

    Science.gov (United States)

    Swennen, Gwen R J; Grimaldi, Hannes; Upheber, Juliane; Kramer, Franz-Josef; Dempf, Rupert

    2004-01-01

    The purpose of this study was to evaluate nasalance measures in German-speaking patients with different types of repaired cleft lip and palate and to find out if significant nasalance gender differences exist in the different cleft groups. A total of 125 German-speaking cleft patients (74 male and 51 female) were included in this study: 18 patients with isolated unilateral cleft lip (UCL; mean age: 13.00 +/- 2.03 years), 66 patients with complete unilateral cleft lip and palate (UCLP; mean age: 14.80 +/- 3.45 years), 25 patients with isolated cleft palate (CP; mean age: 14.60 +/- 3.48 years), and 16 patients with complete bilateral cleft lip and palate (BCLP; mean age: 14.30 +/- 3.61 years). Nasalance data were collected and computed using the NasalView hardware/software system (Fa. Tiger Electronics, Seattle, WA). Speech stimuli according to a modified Heidelberg Rhinophonia Assessment Form (sustained vowels "a," "e," "i," "o," and "u"; oral and nasal sentences; and three oral-nasal reading passages) were used to obtain nasalance scores. Nasalance distance and ratio were also calculated for the oral and nasal sentences and for one of the oral-nasal reading passages. Unpaired t tests showed no significant gender nasalance differences in each cleft group. Analysis of variance showed no significant differences in mean nasalance distance and ratio. For the nasal sentence, a significant difference (P = 0.032) in mean nasalance scores was found between the UCL and UCLP groups.

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

    Science.gov (United States)

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

    2016-01-01

    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 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

  18. Perinatal complications in offspring of psychotic parents.

    Science.gov (United States)

    Mirdal, G M; Rosenthal, D; Wender, P H; Schulsinger, F

    1977-05-01

    The birth records of 78 subjects born to psychotic parents and 72 subjects born to normal parents were studied. No significant differences in the rates of pregnancy and birth complications (PBCs) were found between the offspring of psychotic parents and normal control parents. There were no differences between offspring born to psychotic mothers compared to psychotic fathers. Neither the onset of the parent's illness, nor the mother's age at delivery, nor the sex of the offspring seemed to influence the rate of PBCs. The offspring of chronic schizophrenic mothers and manic-depressive fathers had lower PBC rates than the offspring of parents of other diagnostic categories. The parents of these two groups, which were of a limited size, did not differ on any variable of significance, excepting the time of their first psychiatric hospital admission.

  19. Presurgical nasoalveolar moulding treatment in cleft lip and palate patients

    Directory of Open Access Journals (Sweden)

    Grayson Barry

    2009-10-01

    Full Text Available Presurgical infant orthopedics has been employed since 1950 as an adjunctive neonatal therapy for the correction of cleft lip and palate. Most of these therapies did not address deformity of the nasal cartilage in unilateral and bilateral cleft lip and palate as well as the deficiency of the columella tissue in infants with bilateral cleft. The nasolaveolar molding (NAM technique a new approach to presurgical infant orthopedics developed by Grayson reduces the severity of the initial cleft alveolar and nasal deformity. This enables the surgeon and the patient to enjoy the benefits associated with repair of a cleft deformity that is minimal in severity. This paper will discuss the appliance design, clinical management and biomechanical principles of nasolaveolar molding therapy. Long term studies on NAM therapy indicate better lip and nasal form, reduced oronasal fistula and labial deformities, 60 % reduction in the need for secondary alveolar bone grafting. No effect on growth of midface in sagittal and vertical plane has been recorded up to the age of 18 yrs. With proper training and clinical skills NAM has demonstrated tremendous benefit to the cleft patients as well as to the surgeon performing the repair.

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

    Directory of Open Access Journals (Sweden)

    Sameh A. Seifeldin

    2016-01-01

    Full Text Available 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.

  1. 3D finite element model for treatment of cleft lip

    Science.gov (United States)

    Jiao, Chun; Hong, Dongming; Lu, Hongbing; Wang, Jianqi; Lin, Qin; Liang, Zhengrong

    2009-02-01

    Cleft lip is a congenital facial deformity with high occurrence rate in China. Surgical procedure involving Millard or Tennison methods is usually employed for treatment of cleft lip. However, due to the elasticity of the soft tissues and the mechanical interaction between skin and maxillary, the occurrence rate of facial abnormality or dehisce is still high after the surgery, leading to multiple operations of the patient. In this study, a framework of constructing a realistic 3D finite element model (FEM) for the treatment of cleft lip has been established. It consists of two major steps. The first one is the reconstruction of a 3D geometrical model of the cleft lip from scanning CT data. The second step is the build-up of a FEM for cleft lip using the geometric model, where the material property of all the tetrahedrons was calculated from the CT densities directly using an empirical curve. The simulation results demonstrated (1) the deformation procedure of the model step-by-step when forces were applied, (2) the stress distribution inside the model, and (3) the displacement of all elements in the model. With the computer simulation, the minimal force of having the cleft be repaired is predicted, as well as whether a given force sufficient for the treatment of a specific individual. It indicates that the proposed framework could integrate the treatment planning with stress analysis based on a realistic patient model.

  2. The impact of maternal obesity during pregnancy on offspring immunity.

    Science.gov (United States)

    Wilson, Randall M; Messaoudi, Ilhem

    2015-12-15

    In the United States, approximately 64% of women of childbearing age are either overweight or obese. Maternal obesity during pregnancy is associated with a greater risk for adverse maternal-fetal outcomes. Adverse health outcomes for the offspring can persist into adulthood, increasing the incidence of several chronic conditions including cardiovascular disease, diabetes, and asthma. Since these diseases have a significant inflammatory component, these observations are indicative of perturbation of the normal development and maturation of the immune system of the offspring in utero. This hypothesis is strongly supported by data from several rodent studies. Although the mechanisms of these perturbations are not fully understood, it is thought that increased placental inflammation due to obesity may directly affect neonatal development through alterations in nutrient transport. In this review we examine the impact of maternal obesity on the neonatal immune system, and potential mechanisms for the changes observed.

  3. Early experiences matter: a review of the effects of prenatal environment on offspring characteristics in poultry.

    Science.gov (United States)

    Dixon, L M; Sparks, N H C; Rutherford, K M D

    2016-03-01

    Early life experiences can be important in determining offspring phenotypes and may influence interaction with the environment and hence health, welfare, and productivity. The prenatal environment of poultry can be divided into the pre-lay environment and the egg storage/incubation environment, both of which can affect offspring outcomes. The ability to separate maternal and egg/incubation effects makes birds well suited to this type of research. There are many factors, including feeding and nutrition, environmental conditions, husbandry practices, housing system, social environment, infectious environment, and maternal health status, that can influence both the health and performance and behavior and cognition of the offspring. There are some aspects of the environments that can be changed to produce beneficial effects in the offspring, like addition of certain additives to feed or short changes in incubation temperatures, while other aspects should be avoided to reduce negative effects, such as unpredictable feeding and lighting regimens. Measures of offspring characteristics may prove to be a useful method of assessing parent stock welfare if known stressors result in predictable offspring outcomes. This has the advantage of assessing the parent environment without interfering with the animals and possibly affecting their responses and could lead to improved welfare for the animals.

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

    DEFF Research Database (Denmark)

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

    2015-01-01

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

  5. Eustachian tube dysfunction and its sequelae in patients with cleft palate.

    Science.gov (United States)

    Goldman, J L; Martinez, S A; Ganzel, T M

    1993-11-01

    The incidence of middle ear disorders in patients with cleft palate deformities was determined in a retrospective review of 110 children with palate or palate and lip involvement. Ages ranged from 2 months to 18 years and included patients with associated abnormalities such as Pierre Robin syndrome and Treacher Collins syndrome. Clinical manifestations of eustachian tube dysfunction were found in 79% in the form of effusions, retraction pockets, adhesions, and ossicular erosion. Only two patients had confirmed cholesteatoma formation. Despite the low incidence of acquired cholesteatoma in these patients, the frequent occurrence of other disorders that affect hearing warrants early and aggressive otologic management to prevent long-term sequelae.

  6. [Echodactyly syndrome, ectodermic dysplasia, facial cleft, and EEC syndrome : report on 12 cases (author's transl)].

    Science.gov (United States)

    Psaume, J; Gray, F; Cousteau, C; Trigo, G

    1981-01-01

    Twelve cases of a rare syndrome are reported. Findings included a facial cleft, adactyly of the 2nd and 3rd fingers and 2nd and 3rd toes, and ectodermic dysplasia involving anodontia, hypotrichosis, and albinoid type pigmentation of the skin and the exoskeleton, with clear eyes and chronic conjunctivitis. An interesting finding was that the anodontia affected the permanent teeth only, initially involving the incisors and the second premolars (nine cases out of twelve). Inversely, the deciduous teeth were unaffected, except for the upper first molars in two cases. The canines, usually constantly present, were absent in two out of three cases.

  7. Interspecific Interactions and the Scope for Parent-Offspring Conflict: High Mite Density Temporarily Changes the Trade-Off between Offspring Size and Number in the Burying Beetle, Nicrophorus vespilloides.

    Directory of Open Access Journals (Sweden)

    Ornela De Gasperin

    Full Text Available Parents have a limited amount of resources to invest in reproduction and commonly trade-off how much they invest in offspring size (or quality versus brood size. A negative relationship between offspring size and number has been shown in numerous taxa and it underpins evolutionary conflicts of interest between parents and their young. For example, previous work on vertebrates shows that selection favours mothers that produce more offspring, at the expense of individual offspring size, yet favours offspring that have relatively few siblings and therefore attain a greater size at independence. Here we analyse how this trade-off is temporarily affected by stochastic variation in the intensity of interspecific interactions. We examined the effect of the mite Poecilochirus carabi on the relationship between offspring size and number in the burying beetle, Nicrophorus vespilloides. We manipulated the initial number of mites in the reproductive event (by introducing either no mites, 4 mites, 10 mites, or 16 mites, and assessed the effect on the brood. We found a similar trade-off between offspring size and number in all treatments, except in the '16 mite' treatment where the correlation between offspring number and size flattened considerably. This effect arose because larvae in small broods failed to attain a high mass by dispersal. Our results show that variation in the intensity of interspecific interactions can temporarily change the strength of the trade-off between offspring size and number. In this study, high densities of mites prevented individual offspring from attaining their optimal weight, thus potentially temporarily biasing the outcome of parent-offspring conflict in favour of parents.

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

    Science.gov (United States)

    Trindade-Suedam, Ivy Kiemle; Gaia, Bruno Felipe; Cheng, Cheong Kuo; Trindade, Paulo Alceu Kiemle; Bastos, José Carlos da Cunha; Mattos, Beatriz Silva Câmara

    2012-02-01

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

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

    Directory of Open Access Journals (Sweden)

    Ivy Kiemle Trindade-Suedam

    2012-02-01

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

  10. PREVALENCE OF CLEFT LIP AND PALATE IN GEORGIA.

    Science.gov (United States)

    Chincharadze, S; Vadachkoria, Z; Mchedlishvili, I

    2017-01-01

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

  11. Feeling Normal? Long-Term Follow-up of Patients with a Cleft Lip-Palate after Rhinoplasty with the Derriford Appearance Scale (DAS-59)

    NARCIS (Netherlands)

    Albers, Andreas E.; Reichelt, Andreas C.; Nolst-Trenité, Gilbert J.; Menger, Dirk Jan

    2016-01-01

    The stigma of nasal deformity due to a congenital cleft lip-palate has an undeniable influence on the affected patient's life. It is therefore of interest to investigate if efforts to reduce esthetic and functional impairments by rhinoplasty (single or multiple) can result in an increased satisfacti

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

    DEFF Research Database (Denmark)

    Bertelsen, Claus Anders

    2011-01-01

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

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

    DEFF Research Database (Denmark)

    Andersen, Kristian

    2012-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1992-09-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1996-01-01

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

  16. Maternal obesity alters endoplasmic reticulum homeostasis in offspring pancreas.

    Science.gov (United States)

    Soeda, Jumpei; Mouralidarane, Angelina; Cordero, Paul; Li, Jiawei; Nguyen, Vi; Carter, Rebeca; Kapur, Sabrina R; Pombo, Joaquim; Poston, Lucilla; Taylor, Paul D; Vinciguerra, Manlio; Oben, Jude A

    2016-06-01

    The prevalence of non-alcoholic fatty pancreas disease (NAFPD) is increasing in parallel with obesity rates. Stress-related alterations in endoplasmic reticulum (ER), such as the unfolded protein response (UPR), are associated with obesity. The aim of this study was to investigate ER imbalance in the pancreas of a mice model of adult and perinatal diet-induced obesity. Twenty female C57BL/6J mice were assigned to control (Con) or obesogenic (Ob) diets prior to and during pregnancy and lactation. Their offspring were weaned onto Con or Ob diets up to 6 months post-partum. Then, after sacrifice, plasma biochemical analyses, gene expression, and protein concentrations were measured in pancreata. Offspring of Ob-fed mice had significantly increased body weight (p < 0.001) and plasma leptin (p < 0.001) and decreased insulin (p < 0.01) levels. Maternal obesogenic diet decreased the total and phosphorylated Eif2α and increased spliced X-box binding protein 1 (XBP1). Pancreatic gene expression of downstream regulators of UPR (EDEM, homocysteine-responsive endoplasmic reticulum-resident (HERP), activating transcription factor 4 (ATF4), and C/EBP homologous protein (CHOP)) and autophagy-related proteins (LC3BI/LC3BII) were differently disrupted by obesogenic feeding in both mothers and offspring (from p < 0.1 to p < 0.001). Maternal obesity and Ob feeding in their offspring alter UPR in NAFPD, with involvement of proapoptotic and autophagy-related markers. Upstream and downstream regulators of PERK, IRE1α, and ATF6 pathways were affected differently following the obesogenic insults.

  17. Alveolar cleft closure by osseodistraction: pitfalls and troubleshooting.

    Science.gov (United States)

    Pichelmayer, Margit; Zemann, Wolfgang

    2012-03-01

    Segmental maxillary osseodistraction is a proper method to close alveolar gaps in patients with clefts of lip, palate, and alveolus. The technique is mainly used in very wide clefts after failure of conventional bone grafting procedures. The aim of the study was to analyze problems that may occur during the distraction process. Patients with uncommon wide alveolar clefts or recurrent oronasal fistulas and patients with bilateral clefts of lip, plate, and alveolus and an additional vertical deficit of the posterior cleft segment underwent distraction procedures. The patients were subdivided according to the vector of distraction: linear (following the dental arch) and vertical. The devices for horizontal distraction were tooth-borne and manufactured to the specific clinical situation. For vertical distraction, standard devices were used. Of this sample, patients with complications occurring during or after surgery and during the distraction period were selected as the study participants. On the basis of the data collected on these complications, the need for additional bone grafting procedures was evaluated. Results suggest that modifications in preoperative planning and the construction of the distraction devices may be necessary to prevent unexpected problems in segmental maxillary distraction procedures. Considerations concerning the placement of distraction devices are discussed.

  18. The influence of parental history of diabetes and offspring birthweight on offspring glucose metabolism in adulthood

    DEFF Research Database (Denmark)

    Lauenborg, Jeannet; Jørgensen, Mie Kw; Damm, Peter

    2011-01-01

    Background. Links are well established between both family history of diabetes and reduced birthweight and increased risk of diabetes in adulthood. Objectives. 1) To investigate the influence of parental history of type 2 diabetes (T2DM) on offspring birthweight and adult offspring glucose...... with a spouse without known diabetes. Methods. Oral glucose tolerance tests and frequently sampled intravenous glucose tolerance tests (FSIGT) in non-diabetic offspring. Birthweight and length obtained from birth records. Results. Among 122 offspring with maternal history of T2DM, 14.8% had diabetes compared...

  19. Parent-offspring conflict and the persistence of pregnancy-induced hypertension in modern humans.

    Directory of Open Access Journals (Sweden)

    Birgitte Hollegaard

    Full Text Available Preeclampsia is a major cause of perinatal mortality and disease affecting 5-10% of all pregnancies worldwide, but its etiology remains poorly understood despite considerable research effort. Parent-offspring conflict theory suggests that such hypertensive disorders of pregnancy may have evolved through the ability of fetal genes to increase maternal blood pressure as this enhances general nutrient supply. However, such mechanisms for inducing hypertension in pregnancy would need to incur sufficient offspring health benefits to compensate for the obvious risks for maternal and fetal health towards the end of pregnancy in order to explain why these disorders have not been removed by natural selection in our hunter-gatherer ancestors. We analyzed >750,000 live births in the Danish National Patient Registry and all registered medical diagnoses for up to 30 years after birth. We show that offspring exposed to pregnancy-induced hypertension (PIH in trimester 1 had significantly reduced overall later-life disease risks, but increased risks when PIH exposure started or developed as preeclampsia in later trimesters. Similar patterns were found for first-year mortality. These results suggest that early PIH leading to improved postpartum survival and health represents a balanced compromise between the reproductive interests of parents and offspring, whereas later onset of PIH may reflect an unbalanced parent-offspring conflict at the detriment of maternal and offspring health.

  20. Inventory identification of cyclothymia. IX. Validation in offspring of bipolar I patients.

    Science.gov (United States)

    Klein, D N; Depue, R A; Slater, J F

    1986-05-01

    We present the ninth in a series of validation studies that support the effectiveness of the General Behavior Inventory (GBI) in identifying cyclothymia. This study assessed the potential utility of the GBI in family and offspring studies by evaluating its ability to satisfy three prerequisites for use in such research: (1) identification of cyclothymia familially related to bipolar I disorder, (2) use with young adolescents, and (3) "insensitivity" to the effects of nonaffective psychopathology and parental nonaffective disorder in the offspring of control probands. The GBI and a blind, structured diagnostic interview were administered to 37 offspring of bipolar I patients and 21 offspring of psychiatric control patients, Twenty-seven percent of the offspring of bipolar patients, but none of the control offspring, were found to have bipolar forms of affective disorder, primarily cyclothymia (24%). Concordance between the GBI and interview-derived diagnoses was 95% to 97%, with 98% specificity and 80% to 90% sensitivity, depending on cutting score location. Together with the results of previous studies, the findings suggest that the GBI holds promise for the identification of cyclothymia in several research and clinical contexts.

  1. Danish holsteins favor bull offspring

    DEFF Research Database (Denmark)

    Græsbøll, Kaare; Kirkeby, Carsten; Nielsen, Søren Saxmose;

    2015-01-01

    In a previous study from 2014 it was found that US Holstein cows that gave birth to heifer calves produced more milk than cows having bull calves. We wanted to assess whether this is also true for Danish cattle. Data from 578 Danish Holstein herds were analysed with a mixed effect model and contr......In a previous study from 2014 it was found that US Holstein cows that gave birth to heifer calves produced more milk than cows having bull calves. We wanted to assess whether this is also true for Danish cattle. Data from 578 Danish Holstein herds were analysed with a mixed effect model...... and contrary to the findings in the US, we found that cows produced higher volumes of milk if they had a bull calf compared to a heifer calf. We found a significantly higher milk production of 0.28% in the first lactation period for cows giving birth to a bull calf, compared to a heifer calf. This difference...... was even higher when cows gave birth to another bull calf, so having two bull calves resulted in a difference of 0.52% in milk production compared to any other combination of sex of the offspring. Furthermore, we found that farmer assisted calvings were associated with a higher milk yield. Cows...

  2. Teenage parents and their offspring.

    Science.gov (United States)

    Kaufman, J

    1996-06-18

    Teenage parents are cast into adult roles before the role experimentation and identity development tasks of middle adolescence can be completed. Understanding the etiology of this social problem requires an ecological perspective encompassing individual characteristics, person-context variables, and societal factors such as race and social class. Risk factors identified in the literature on adolescent pregnancy in the US include: absence of a future orientation or aspirations, lack of assertiveness and interpersonal skills to control physical intimacy, low socioeconomic status and minority group membership, growing up in a single-parent family, a history of sexual abuse, five or more siblings, a sister or friend who became a teenage mother, lax parental supervision of dating and free time, low self-esteem, and dropping out or failing in school. The limited data on adolescent fathers suggest they have histories of substance use, delinquency, failure to graduate from high school, financial difficulty, and exposure to family violence. The offspring of adolescent parents show a higher incidence of developmental delays and mild mental retardation than children of adults and are at increased risk of child abuse and neglect. Teen parents raised in dysfunctional families tend to perpetuate destructive methods of child rearing and have unrealistic, age-inappropriate expectations for infants and toddlers. Teenage parents' lack of competence can be mitigated, however, by positive living arrangements, a supportive family of origin, peer support groups, quality child care, school-based services, and accurate information about parenting and child development.

  3. Post septorhinoplasty custom-made unilateral nasal stent for nasal cleft deformity

    OpenAIRE

    Manu Rathee; Mohaneesh Bhoria; Priyanka Boora

    2015-01-01

    Context: Nasal cleft deformity is a complicated problem. Utilization of nasal stent in post septorhinoplastyaims at establishing and maintaining airway patency, tissue position, and reduces tissue contracture after surgery. Case Report: A 16-year-old female patient presented with history of surgical reconstruction of congenital cleft lip and cleft palate with secondary septorhinoplasty of nasal cleft deformity. Patient was referred for nasal stent 1 week after septorhinoplasty. This case repo...

  4. Diagnosis and presurgical orthopedics in infants with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Fundagul Bilgic

    2015-01-01

    Full Text Available Cleft lip and palate are one of the most common congenital craniofacial malformations. While preoperative treatment for infants with cleft lip and palate is still a scientific debate, patients with this malocclusion usually have to be treated from infancy to adulthood. Orthodontist plays an important role in the treatment of patients with cleft lip and palate. The purpose of this review is to give information about cleft lip and palate and presurgical nasoalveolar molding.

  5. Buprenorphine, methadone, and morphine treatment during pregnancy: behavioral effects on the offspring in rats.

    Science.gov (United States)

    Chen, Hwei-Hsien; Chiang, Yao-Chang; Yuan, Zung Fan; Kuo, Chung-Chih; Lai, Mei-Dan; Hung, Tsai-Wei; Ho, Ing-Kang; Chen, Shao-Tsu

    2015-01-01

    Methadone and buprenorphine are widely used for treating people with opioid dependence, including pregnant women. Prenatal exposure to opioids has devastating effects on the development of human fetuses and may induce long-term physical and neurobehavioral changes during postnatal maturation. This study aimed at comparing the behavioral outcomes of young rats prenatally exposed to buprenorphine, methadone, and morphine. Pregnant Sprague-Dawley rats were administered saline, morphine, methadone, and buprenorphine during embryonic days 3-20. The cognitive function, social interaction, anxiety-like behaviors, and locomotor activity of offsprings were examined by novel object recognition test, social interaction test, light-dark transition test, elevated plus-maze, and open-field test between 6 weeks and 10 weeks of age. Prenatal exposure to methadone and buprenorphine did not affect locomotor activity, but significantly impaired novel object recognition and social interaction in both male and female offsprings in the same manner as morphine. Although prenatal exposure to methadone or buprenorphine increased anxiety-like behaviors in the light-dark transition in both male and female offsprings, the effects were less pronounced as compared to that of morphine. Methadone affected elevated plus-maze in both sex, but buprenorphine only affected the female offsprings. These findings suggest that buprenorphine and methadone maintenance therapy for pregnant women, like morphine, produced detrimental effects on cognitive function and social behaviors, whereas the offsprings of such women might have a lower risk of developing anxiety disorders.

  6. Paternal body mass index (BMI is associated with offspring intrauterine growth in a gender dependent manner.

    Directory of Open Access Journals (Sweden)

    You-Peng Chen

    Full Text Available BACKGROUND: Environmental alternations leading to fetal programming of cardiovascular diseases in later life have been attributed to maternal factors. However, animal studies showed that paternal obesity may program cardio-metabolic diseases in the offspring. In the current study we tested the hypothesis that paternal BMI may be associated with fetal growth. METHODS AND RESULTS: We analyzed the relationship between paternal body mass index (BMI and birth weight, ultrasound parameters describing the newborn's body shape as well as parameters describing the newborns endocrine system such as cortisol, aldosterone, renin activity and fetal glycated serum protein in a birth cohort of 899 father/mother/child triplets. Since fetal programming is an offspring sex specific process, male and female offspring were analyzed separately. Multivariable regression analyses considering maternal BMI, paternal and maternal age, hypertension during pregnancy, maternal total glycated serum protein, parity and either gestational age (for birth weight or time of ultrasound investigation (for ultrasound parameters as confounding showed that paternal BMI is associated with growth of the male but not female offspring. Paternal BMI correlated with birth parameters of male offspring only: birth weight; biparietal diameter, head circumference; abdominal diameter, abdominal circumference; and pectoral diameter. Cortisol was likewise significantly correlated with paternal BMI in male newborns only. CONCLUSIONS: Paternal BMI affects growth of the male but not female offspring. Paternal BMI may thus represent a risk factor for cardiovascular diseases of male offspring in later life. It remains to be demonstrated whether this is linked to an offspring sex specific paternal programming of cortisol secretion.

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Science.gov (United States)

    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.

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

    NARCIS (Netherlands)

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

    2008-01-01

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

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

    Science.gov (United States)

    Speltz, Matthew L.; And Others

    1997-01-01

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

  11. Dental age in children with a complete unilateral cleft lip and palate.

    NARCIS (Netherlands)

    Huyskens, R.W.F.; Katsaros, C.; Hof, M.A. van 't; Kuijpers-Jagtman, A.M.

    2006-01-01

    OBJECTIVE: To assess dental age in children with a complete unilateral cleft lip and palate and to compare this with a noncleft control group. DESIGN: Two-group, mixed-longitudinal cohort study. SETTING: Cleft group from an academic center for cleft lip and palate treatment. Noncleft control group f

  12. A reproductive history of mothers with spina bifida offspring-a new look at old issues

    Directory of Open Access Journals (Sweden)

    Farley Thomas L

    2006-08-01

    Full Text Available Abstract Background Spina bifida is a disorder of the cerebrospinal fluid system associated with failure of neural tube closure in the fetus. Reproductive history studies of mothers with spina bifida offspring have often been conducted shortly after the affected child's birth. In this study, a large group of community-based mothers were studied after most had completed their families. The aims were to present a more comprehensive reproductive history and to test several hypotheses regarding the nature of spina bifida. Methods Data from 271 mothers was collected by interview 18.3 mean years after the affected child's birth. Data analysis was by χ-square, Fisher exact test and t test with a p value less than 0.05 considered significant. Results Females made up 56.5% of affected offspring (probands and 53.1% of unaffected offspring. The spina bifida and anencephaly recurrence rate was 4.0%. The twinning rate was 8.6/1000 live births. 24.4% of mothers had a history of spontaneous abortion and the rate varied by pregnancy order from 87 to 185/1000 live births. Duration of pregnancies subsequent to probands was shorter for female than male probands. Mean birth weight of probands with high lesions exceeded those with low lesions. A spontaneous abortion preceded female probands more often than males as compared to live births. Affected males with high lesions conceived by white mothers were at greater risk to be spontaneously aborted. Previous inter-gestational interval for mothers with no history of spontaneous abortion was longer for probands than unaffected offspring but not for mothers with a history of spontaneous abortion. Conclusion Overall, and for every major subgroup of these mothers, more affected and unaffected female than male offspring were born. Differences by gender and lesion level among probands and between probands and unaffected offspring were consistent with an etiology of unknown genetic factors, hormonal and/or immune system

  13. Fearfulness affects quail maternal care and subsequent offspring development.

    Directory of Open Access Journals (Sweden)

    Florent Pittet

    Full Text Available Our study investigated relationships between a precocial bird's fearfulness and maternal care, and the implication of maternal care as a vector for non-genomic transmission of fearfulness to chicks. We compared care given to chicks between two sets of female Japanese quail selected to present either high (LTI or low fearfulness (STI. Chicks, from a broiler line, were adopted by these females following a sensitization procedure. Chicks' fearfulness after separation from their mother was assessed by well-established procedures. LTIs took longer to present maternal responses, pecked chicks more during the first days post-hatch, presented impaired maternal vocal behaviour and were globally less active than STI females. Chicks mothered by LTIs presented more fearful reactions than did chicks mothered by STIs, supporting the hypothesis of a non-genetic maternal transmission of fearfulness. We suggest that the longer latencies required by LTIs to become maternal are a consequence of their greater fear of chicks, and that their lower general and vocal activity could be components of a heightened antipredatory strategy. We discuss the transmission of maternal fearfulness to fostered chicks, taking into account the possible implication of several well-known mechanisms underlying maternal effects.

  14. Fearfulness affects quail maternal care and subsequent offspring development.

    Science.gov (United States)

    Pittet, Florent; Houdelier, Cécilia; Le Bot, Océane; Leterrier, Christine; Lumineau, Sophie

    2014-01-01

    Our study investigated relationships between a precocial bird's fearfulness and maternal care, and the implication of maternal care as a vector for non-genomic transmission of fearfulness to chicks. We compared care given to chicks between two sets of female Japanese quail selected to present either high (LTI) or low fearfulness (STI). Chicks, from a broiler line, were adopted by these females following a sensitization procedure. Chicks' fearfulness after separation from their mother was assessed by well-established procedures. LTIs took longer to present maternal responses, pecked chicks more during the first days post-hatch, presented impaired maternal vocal behaviour and were globally less active than STI females. Chicks mothered by LTIs presented more fearful reactions than did chicks mothered by STIs, supporting the hypothesis of a non-genetic maternal transmission of fearfulness. We suggest that the longer latencies required by LTIs to become maternal are a consequence of their greater fear of chicks, and that their lower general and vocal activity could be components of a heightened antipredatory strategy. We discuss the transmission of maternal fearfulness to fostered chicks, taking into account the possible implication of several well-known mechanisms underlying maternal effects.

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

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    Bajevska Jagoda

    2017-01-01

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

  17. An illusionary prosthetic design for a unilateral cleft palate patient

    Directory of Open Access Journals (Sweden)

    Andaç Barkın Bavbek

    2014-01-01

    Full Text Available The prosthetic rehabilitation is an important part of the cleft lip and palate therapy assisting orthodontic and orthognathic treatments. Prosthesis does not only help to improve function and aesthetics but also needs to facilitate a better oral health. The aim of this report is to introduce the prosthetic approach of a 21-year-old female unilateral cleft palate patient that considered reinforcing the mobile canine adjacent to the cleft, easing the elimination of dental plaque from the remaining fistula and reaching an accurate occlusion. Facial aesthetics was established by the illusionary effect of a removable crown complex which is joined onto a fixed partial denture with a precision attachment system.

  18. Cleft Lip Nasal Deformity After Mucormycosis Infection: Case Report

    Directory of Open Access Journals (Sweden)

    Abdullah Orhan

    2016-07-01

    Full Text Available Mucormycosis is an acute fulminant fungal infection. Mucormycosis usually accompanies uncontrolled diabetes [in particular, patients with ketoacidosis], malignancies like lymphoma or leukemia, renal failure, organ transplantations, long-term corticosteroid or immunosuppressant therapy, and conditions including burns, cirrhosis, protein-energy malnutrition or AIDS, though it also may be seen in healthy individuals. A 21-year-old male patient applied to our clinic with cleft lip and nasal deformity. It was understood from his medical history that he was diagnosed with lymphoma at age 10 and he developed an infection in his palate and nose during the treatment course. His cleft palate and nasal deformity was repaired by surgery in our clinic. Herein we reported a case of nasal deformity and incomplete cleft palate caused by mucormycosis infection.

  19. Dislocated Tongue Muscle Attachment and Cleft Palate Formation.

    Science.gov (United States)

    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.

  20. Maternal obesity and risk of Down syndrome in the offspring

    OpenAIRE

    Hildebrand, Eric; Källén, Bengt; Josefsson, Ann; Gottvall, Tomas; Blomberg, Marie

    2014-01-01

    OBJECTIVE: The objective of this article is to determine if maternal obesity is associated with an increased risk of Down syndrome in the offspring and whether the risk estimates for trisomy 21 based on combined screening is affected by maternal body mass index (BMI). METHODS: Study group I consisted of a nationwide cohort of 168 604 women giving birth; outcome was infants born with Down syndrome. Adjustment was made for maternal age. Study group II consisted of 10 224 women undergoing 1st tr...

  1. Simplified feeding appliance for an infant with cleft palate

    Directory of Open Access Journals (Sweden)

    Shaila Masih

    2014-01-01

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

  2. Ectopic salivary gland tissue in a Rathke's cleft cyst.

    Science.gov (United States)

    Ranucci, Valentina; Coli, Antonella; Marrucci, Eleonora; Paolo, Mattogno Pier; Della Pepa, Giuseppe; Anile, Carmelo; Mangiola, Annunziato

    2013-01-01

    The presence of salivary gland tissue in the sella turcica has rarely been reported, mainly after pituitary examination at autopsy. Only five symptomatic cases have previously been described, mainly associated with Rathke's cleft cyst. We report a 17-year-old boy presenting with headaches and hyperprolactinemia. The MRI showed a 19 mm sellar mass that at surgery revealed as a cystic lesion filled with mucinous fluid. The histological examination documented the presence of ectopic salivary gland tissue in the wall of a Rathke's cleft cyst. The present report focuses on the possible pitfalls when dealing with unusual sellar lesions, and the need of increased awareness of this rare condition.

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    OBJECTIVES: To compare stability of maxillary advancements in patients with cleft lip and palate following distraction osteogenesis or orthognathic surgery. MATERIAL AND METHODS: INCLUSION CRITERIA: 1) cleft lip and palate, 2) advancement > 8 mm. Eleven patients comprised the distraction.......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...

  4. Lateral facial cleft associated with accessory mandible having teeth, absent parotid gland and peripheral facial weakness.

    Science.gov (United States)

    Ozçelik, D; Toplu, G; Türkseven, A; Senses, D A; Yiğit, B

    2014-07-01

    Transverse facial cleft is a very rare malformation. The Tessier no. 7 cleft is a lateral facial cleft which emanates from oral cavity and extends towards the tragus, involving both soft tissue and skeletal components. Here, we present a case having transverse facial cleft, accessory mandible having teeth, absent parotid gland and ipsilateral peripheral facial nerve weakness. After surgical repair of the cleft in 2-month of age, improvement of the facial nerve function was detected in 3-year of age. Resection of the accessory mandible was planned in 5-6 years of age.

  5. Ethnic Variation in Oral Cleft Occurrence in Denmark 1981–2002

    DEFF Research Database (Denmark)

    Pedersen, Grete Skøtt; Pedersen, Dorthe Almind; Mortensen, Laust Hvas

    2014-01-01

    cases were categorized into isolated and nonisolated cleft lip with or without palate (CL/P) and cleft palate only (CP). Birth prevalence was calculated as cases per 1,000 live born children by maternal country of origin, world region, and mixed parental groups. Results :   We identified 3094 OC cases......Objective :  To examine differences in oral cleft (OC) occurrence based on maternal only and parental country of origin in Denmark from 1981 to 2002. Methods :   Data on all live births from the Danish Medical Birth Register from 1981 to 2002 were linked with the Danish Facial Cleft Database. Cleft...

  6. The Role of the Velopharyngeal Sphincter in the Speech of Patients with Cleft Palate or Cleft Lip and Palate Using Perceptual Methods

    OpenAIRE

    Tatjana Georgievska-Jancheska; Juliana Gjorgova; Mirjana Popovska

    2016-01-01

    BACKGROUND: The velopharyngeal sphincter (VPS) plays the main role in speech formation. The cleft palate, due to the damage of the soft palate, leads to dysfunction of the velopharyngeal sphincter thus causing speech disorder. AIM: To establish a link between the nasal air escape and the perceptual symptoms in the speech of patients with cleft palate or cleft lip and palate using auditory-visual perceptual procedures for determining the influence the velopharyngeal dysfunction has on spee...

  7. Effect of low and chronic radiation exposure: a case-control study of mental retardation and cleft lip/palate in the monazite-bearing coastal areas of southern Kerala.

    Science.gov (United States)

    Koya, P K M; Chougaonkar, M P; Predeep, P; Jojo, P J; Cheriyan, V D; Mayya, Y S; Seshadri, M

    2012-01-01

    A population-based 1:3 age-matched case-control study was conducted during 2006-2009 to assess the role of high-level natural radiation (>1 mSv/year) on congenital mental retardation and cleft lip/palate in the southwest coastal area of Kerala. Dosimetry was carried out in the house where parents resided during conception and the subsequent two trimesters of pregnancy of the study subject. Conditional logistic regression did not suggest any statistically significant association of either mental retardation (n = 445) or cleft lip/palate (n = 116) with high-level natural radiation. The odds of mental retardation and cleft lip/palate among those exposed to high-level natural radiation relative to normal levels of natural background radiation (≤1 mSv/year) were 1.26 (95% CI: 0.91-1.73) and 0.56 (95% CI: 0.31-1.02), respectively, after controlling for gender and maternal age at birth of the study subject. The data did not suggest any dose-related trend in the risk of either mental retardation (P = 0.113) or cleft lip/palate (P = 0.908). Notwithstanding the use of a single dose estimate to reconstruct past radiation exposure and the complex etiology of congenital malformations, it may reasonably be concluded that the prevailing high-level natural radiation in the study area does not appear to increase the risk of either mental retardation or cleft lip/palate among offspring of parents staying in the area.

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

    Science.gov (United States)

    Hasan, S. Naimul; Mark, Brian; Harlalka, Gaurav V.; Patton, Michael A.; Ishida, Miho; Sharma, Sanjay; Faqeih, Eissa; Blakley, Brian; Jackson, Mike; Lees, Melissa; Dolinsky, Vernon; Cross, Leroy; Stanier, Philip; Salter, Claire; Baple, Emma L.; Crosby, Andrew H.

    2017-01-01

    Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, this factor remains incompletely understood. Here, we describe mutations in the HYAL2 gene as a cause of syndromic orofacial clefting. HYAL2, encoding hyaluronidase 2, degrades extracellular hyaluronan, a critical component of the developing heart and palatal shelf matrix. Transfection assays demonstrated that the gene mutations destabilize the molecule, dramatically reducing HYAL2 protein levels. Consistent with the clinical presentation in affected individuals, investigations of Hyal2-/- mice revealed craniofacial abnormalities, including submucosal cleft palate. In addition, cor triatriatum sinister and hearing loss, identified in a proportion of Hyal2-/- mice, were also found as incompletely penetrant features in affected humans. Taken together our findings identify a new genetic cause of orofacial clefting in humans and mice, and define the first molecular cause of human cor triatriatum sinister, illustrating the fundamental importance of HYAL2 and hyaluronan turnover for normal human and mouse development. PMID:28081210

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

    Science.gov (United States)

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

    2014-01-01

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

  10. Radiology of Cleft Lip and Palate: Imaging for the Prenatal Period and throughout Life.

    Science.gov (United States)

    Abramson, Zachary R; Peacock, Zachary S; Cohen, Harris L; Choudhri, Asim F

    2015-01-01

    Recent advances in prenatal imaging have made possible the in utero diagnosis of cleft lip and palate and associated deformities. Postnatal diagnosis of cleft lip is made clinically, but imaging still plays a role in detection of associated abnormalities, surgical treatment planning, and screening for or surveillance of secondary deformities. This article describes the clinical entities of cleft lip with or without cleft palate (CLP) and isolated cleft palate and documents their prenatal and postnatal appearances at radiography, ultrasonography (US), magnetic resonance (MR) imaging, and computed tomography (CT). Imaging protocols and findings for prenatal screening, detection of associated anomalies, and evaluation of secondary deformities throughout life are described and illustrated. CLP and isolated cleft palate are distinct entities with shared radiologic appearances. Prenatal US and MR imaging can depict clefting of the lip or palate and associated anomalies. While two- and three-dimensional US often can depict cleft lip, visualization of cleft palate is more difficult, and repeat US or fetal MR imaging should be performed if cleft palate is suspected. Postnatal imaging can assist in identifying associated abnormalities and dentofacial deformities. Dentofacial sequelae of cleft lip and palate include missing and supernumerary teeth, oronasal fistulas, velopharyngeal insufficiency, hearing loss, maxillary growth restriction, and airway abnormalities. Secondary deformities can often be found incidentally at imaging performed for other purposes, but detection is necessary because they may have considerable implications for the patient.

  11. Root development of permanent lateral incisor in cleft lip and palate children: A radiographic study

    Directory of Open Access Journals (Sweden)

    Amarlal Deepti

    2007-01-01

    Full Text Available Objective: The objective of this study was to compare the root development of lateral incisor on the cleft side with the root development of its contralateral tooth in cleft lip and palate children. Setting: Cleft lip and palate wing, Meenakshi Ammal Dental College and Hospital, Chennai, South India. Materials and Methods: A sample of 96 orthopantamograms of patients with unilateral or bilateral cleft lip and/or cleft palate was selected, regardless of sex and race. Main Outcome Measure: Orthopantamograms were analyzed for root development of lateral incisor on the cleft and noncleft side. Associated anomalies like hypodontia, supernumerary teeth, malformed lateral incisors and root development of canine, if present, were recorded. Findings and Conclusions: Root development of permanent lateral incisor was delayed on the cleft side compared to the noncleft side. There was a statistically significant relationship between levels of root development of lateral incisors on the cleft side within the different study groups ( P < 0.05. Incidence of hypodontia increased in proportion to cleft severity. Frequency of missing second premolars, supernumerary teeth and malformed lateral incisors increased in cleft lip and palate patients. Root development of canine showed a slight delay on the cleft side when compared to the canine on the noncleft side.

  12. 3D computed tomographic evaluation of secondary alveolar bone grafts in cleft lip and palate patients

    Energy Technology Data Exchange (ETDEWEB)

    Ohkubo, Fumio; Akai, Hidemi; Hosaka, Yoshiaki [Showa Univ., Tokyo (Japan). School of Medicine

    2001-04-01

    Alveolar bone grafting in patients with cleft lip and palate has becomes a routine part of most treatment regimes. This study was undertaken to estimate how much bone needs to be grafted into the cleft cavity and to evaluate the grafted bone using 3-DCT over a period from the early postoperative stage to after one year. Seventy-five patients divided into four groups according to the type of cleft were studied. All patients underwent secondary alveolar bone grafting using particulate cancellous bone from the anterior iliac crest. The bone graft areas were divided into two regions: the extra-cleft region and the intra-cleft region. The weight and the volume of the grafted bone were correlated and the average density was 1.5 g/ml regardless of the cleft type. The bone in the extra-cleft region could be seen in almost all slices of the CT scans, from the lower alveolar process to the piriform aperture. The extra-cleft graft ratio of unilateral and bilateral cleft lip and palate is higher than that of cleft lip and alveolus. The extra-cleft grafting is necessary to restore facial symmetry. The grafted bone was decreased in both height and volume following three months and adequate bone bridging was maintained for one year. We concluded that 3-DCT findings are one of the most valuable methods to evaluate postoperative conditions after alveolar bone grafting. (author)

  13. Isolated cleft of the ala nasi: A report of seven cases

    Directory of Open Access Journals (Sweden)

    J Rajesh Jinka

    2012-01-01

    Full Text Available Craniofacial clefts other than cleft lip & palate are reported to be 1.4 to 4.9 per 100,000 live births. Of these, clefts of nose are usually associated with other clefts. Isolated cleft of Ala is rare, 0.7% of all clefts reported by Monasterio. In an analysis of photographic records of 3,500 consecutive patients with craniofacial clefts including cleft lip & palate registered with us between 1985- 2012 which were accessed through our data base, 13 patients with nasal clefts were identified, seven out of which had Isolated cleft of the Ala. All were treated by a rotation flap of the Ala with good results with the longest follow up of 14Yrs. The authors have emphasised the rarity of the condition and presented a simple surgical procedure for correction. In the opinion of the authors this very simple procedure which can be performed by the junior surgeon gives a good long term result in the management of cleft Ala.

  14. A Case of Complex Facial Clefts Treated with Staged-tissue Expansion

    Directory of Open Access Journals (Sweden)

    Koichi Ueda, MD, PhD

    2014-12-01

    Full Text Available Summary: Craniofacial clefts involve all soft tissue and skeletal elements throughout the cleft. Usefulness of tissue expansion in craniofacial clefts is reported. Surgery for a complex type of facial clefts is more difficult and more extensive than for a simple one. We experienced a primary case of complex facial clefts (Tessier No. 2 and 12 on the right and 3, 11, and 5 on the left. Soft-tissue closure of all clefts could be completed by using 4 tissue expanders and 7 operations. Because multiple tissue deficiencies and abnormalities exist in craniofacial clefts, especially complex type, a planned, staged, sequential approach by tissue expansion is necessary to produce ideal results.

  15. Nature, nurture or nutrition? Impact of maternal nutrition on maternal care, offspring development and reproductive function.

    Science.gov (United States)

    Connor, K L; Vickers, M H; Beltrand, J; Meaney, M J; Sloboda, D M

    2012-05-01

    We have previously reported that offspring of mothers fed a high fat (HF) diet during pregnancy and lactation enter puberty early and are hyperleptinaemic, hyperinsulinaemic and obese as adults. Poor maternal care and bonding can also impact offspring development and disease risk.We therefore hypothesized that prenatal nutrition would affect maternal care and that an interaction may exist between a maternal HF diet and maternal care, subsequently impacting on offspring phenotype.Wistar rats were mated and randomized to control dams fed a control diet (CON) or dams fed a HF diet from conception until the end of lactation (HF). Maternal care was assessed by observing maternal licking and grooming of pups between postnatal day (P)3 and P8. Postweaning (P22), offspring were fed a control (–con) or HF (–hf) diet. From P27, pubertal onset was assessed. At ∼P105 oestrous cyclicity was investigated. Maternal HF diet reduced maternal care; HF-fed mothers licked and groomed pups less than CON dams.Maternal fat:lean ratio was higher in HF dams at weaning and was associated with higher maternal plasma leptin and insulin concentrations, but there was no effect of maternal care on fat:lean ratio or maternal hormone levels. Both female and male offspring of HF dams were lighter from birth to P11 than offspring of CON dams, but by P19, HF offspring were heavier than controls. Prepubertal retroperitoneal fat mass was greater in pups from HF-fed dams compared to CON and was associated with elevated circulating leptin concentrations in females only, but there was neither an effect of maternal care, nor an interaction between maternal diet and care on prepubertal fat mass. Pups from HF-fed dams went into puberty early and this effect was exacerbated by a postweaning HF diet.Maternal and postweaning HF diets independently altered oestrous cyclicity in females: female offspring of HF-fed mothers were more likely to have prolonged or persistent oestrus, whilst female offspring fed

  16. First trimester exposure to corticosteroids and oral clefts

    NARCIS (Netherlands)

    Pradat, P; Robert-Gnansia, E; Di Tanna, GL; Rosano, A; Lisi, A; Mastroiacovo, P

    2003-01-01

    BACKGROUND: The possible association between oral cleft in the newborn and maternal exposure to corticoids during pregnancy is still controversial. The aim of this study was to test this association by a case-control analysis using the large multicentric MADRE database. METHODS: The MADRE database i

  17. Comparison of two different gingivectomy techniques for gingival cleft treatment.

    Science.gov (United States)

    Malkoc, Siddik; Buyukyilmaz, Tamer; Gelgor, Ibrahim; Gursel, Mihtikar

    2004-06-01

    Interdental clefts or invaginations contribute to orthodontic relapse and poor periodontal health in extraction cases. These clefts or invaginations can be removed both by electrosurgical or conventional surgical gingivectomy techniques. This study investigates and compares the efficacy of two different techniques to remove gingival clefts with respect to periodontal health and patient tolerance. Twenty-two patients (mean age, 15.7 years) with bilateral gingival clefts participated in this study. In each patient, the gingival invaginations were removed by gingivectomy using electrosurgery on one side and conventional surgery on the contralateral side. The length and depth of the invaginations, the gingival index of the adjacent teeth, and the changes in visual analogue scale scores were recorded before and after the operation for both groups. Mann-Whitney U-test and Wilcoxon tests were used to analyze the data statistically. The results showed significant improvement in invagination depth and length and gingival index scores for both techniques. There were no statistical differences between the two gingivectomy techniques with respect to gingival health and patient tolerance. Both techniques can be used to remove the gingival invaginations efficiently.

  18. Embryology, sternal clefts, ectopia cordis, and Cantrell's pentalogy.

    Science.gov (United States)

    Engum, Scott A

    2008-08-01

    Sternal clefts, ectopia cordis, and Cantrell's pentalogy continue to be very rare congenital anomalies in pediatric surgery. Unfortunately, these conditions present as neonatal emergencies and demand early surgical intervention. This article reviews the embryological development of the chest wall, specific sternal defect anomalies, along with available methods of treatment.

  19. Congenital medium sternal cleft with partial ectopia cordis repair.

    Science.gov (United States)

    Sousa, Paulo Rego; Antunes, Sónia; Couto, Alexandra; Santos, Gonçalo Cassiano; Leal, Luis Gagp; Magalhães, Manuel Pedro

    2009-01-01

    Congenital sternal malformation is a rare anomaly often diagnosed as an asymptomatic condition at birth. The authors report a clinical case of a full-term female neonate with congenital sternal cleft and partial ectopia cordis. Successful surgical repair was accomplished at 6 days of age. When surgery is performed shortly after birth, the procedure is easier and better results are achieved.

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

    Energy Technology Data Exchange (ETDEWEB)

    Hwang, S.J.; Beaty, T.H.; Panny, S. [Johns Hopkins Univ., Baltimore, MD (United States)] [and others

    1994-09-01

    In this study of infants with isolated birth defects, 69 cleft palate-only (CPO) cases, 114 cleft lip with or without palate (CL/P), and 284 controls with non-cleft birth defects (all born in Maryland during 1984-1992) were examined to test for associations among genetic markers and different oral clefts. Modest associations were found between transforming growth factor {alpha} (TGF{alpha}) marker and CPO, as well as that between D17S579 (Mfd188) and CL/P in this study. The association between TGF{alpha} marker and CPO reflects a statistical interaction between mother`s smoking and child`s TGF{alpha} genotype. A significantly higher risk of CPO was found among those reporting maternal smoking during pregnancy and carrying less common TGF{alpha} TaqI allele (odds ratio=7.02 with 95% confidence interval 1.8-27.6). This gene-environment interaction was also found among those who reported no family history of any type of birth defect (odds ratio=5.60 with 95% confidence interval 1.4-22.9). Similar associations were seen for CL/P, but these were not statistically significant.

  1. Comparison of three incisions to repair complete unilateral cleft lip.

    NARCIS (Netherlands)

    Reddy, S.; Reddy, R.R.; Bronkhorst, E.M.; Prasad, R.; Kuijpers-Jagtman, A.M.; Berge, S.J.

    2010-01-01

    BACKGROUND: The incision design for correcting a unilateral cleft lip is important because all subsequent stages of surgery depend on the access and maneuverability of the incision. This prospective cohort study compares the aesthetic and functional outcomes of three different skin incisions for pri

  2. Cyclodialysis Cleft Treatment Using a Minimally Invasive Technique

    Directory of Open Access Journals (Sweden)

    João Pinheiro-Costa

    2015-02-01

    Full Text Available Purpose: To report a case of a cyclodialysis cleft that was successfully managed with gas endotamponade and cyclocryotherapy. Methods: A 37-year-old male victim of a severe blunt ocular trauma was referred to our service for evaluation and treatment of a left eye hypotony. Clinical examination revealed an intraocular pressure of 2 mm Hg, a cyclodialysis cleft extending from the 11 to 1 o'clock positions and a hypotonic maculopathy. Left eye best corrected visual acuity (BCVA was 3/10. The patient failed to respond to conservative treatment with atropine 1%, so a single bubble of 16% C2F6 was injected into the vitreous cavity, followed by superior quadrant transconjunctival cyclocryotherapy. Results: After gas absorption, the intraocular pressure increased to 11 mm Hg and became steady during the 24 months of follow-up. His hypotonic maculopathy resolved, and the BCVA improved to 9/10. Complete closure of the cyclodialysis cleft was documented with ultrasound biomicroscopy. Conclusion: Cryotherapy associated with gas endotamponade is a minimally invasive technique that could be considered for patients with cyclodialysis clefts that fail to respond to medical therapy.

  3. Production of Two Nasal Sounds by Speakers With Cleft Palate.

    Science.gov (United States)

    Bressmann, Tim; Radovanovic, Bojana; Harper, Susan; Klaiman, Paula; Fisher, David; Kulkarni, Gajanan V

    2016-12-29

    Manyspeakers with cleft palate develop atypical consonant productions, especially for pressure consonants such as plosives, fricatives, and affricates. The present study investigated the nature of nasal sound errors. The participants were eight female and three male speakers with cleft palate between the ages of 6 to 20. Speakers were audio-recorded, and midsagittal tongue movement was captured with ultrasound. The speakers repeated vowel-consonant-vowel with the vowels /α/, /i/, and /u/ and the alveolar and velar nasal consonants /n/ and //. The productions were reviewed by three listeners. The participants showed a variety of different placement errors and insertions of plosives, as well as liquid productions. There was considerable error variability between and within speakers, often related to the different vowel contexts. Three speakers co-produced click sounds. The study demonstrated the wide variety of sound errors that some speakers with cleft palate may demonstrate for nasal sounds. Nasal sounds, ideally in different vowel contexts, should be included in articulation screenings for speakers with cleft palate, perhaps more than is currently the case.

  4. Genetic studies in congenital anterior midline cervical cleft

    DEFF Research Database (Denmark)

    Jakobsen, L P; Pfeiffer, P; Andersen, M

    2012-01-01

    Congenital anterior midline cervical cleft (CAMCC) is a rare anomaly, with less than 100 cases reported. The cause of CAMCC is unknown, but genetic factors must be considered as part of the etiology. Three cases of CAMCC are presented. This is the first genetic study of isolated CAMCC. Conventional...

  5. Speech and language in the patient with cleft palate.

    Science.gov (United States)

    Mildinhall, Sue

    2012-01-01

    This chapter describes the normal development of speech and speech problems that may arise for the child born with cleft lip and/or palate. It describes current trends and the importance of multidisciplinary working in this complex field. The contribution of the speech and language therapist to the management of this population is considered.

  6. Current data on the characterization of oral clefts in Brazil Informações atuais sobre a caracterização das fissuras orofaciais no Brasil

    Directory of Open Access Journals (Sweden)

    José Alberto de Souza Freitas

    2004-06-01

    Full Text Available This study aimed at investigating the current distribution of the several types of clefts among the patients receiving treatment at the Hospital for Rehabilitation of Craniofacial Anomalies (HRAC-USP, Bauru, Brazil, for the first time during the year 2000. A total of 803 unoperated patients with cleft lip and/or palate, with or without additional malformations, with no recognizable syndromes, who came to the HRAC-USP for enrollment for treatment during the year 2000. A predominance of complete cleft lip and palate, either unilateral or bilateral, was observed (37.1%, followed by isolated cleft palate (31.7% and isolated cleft lip (28.4%. A discrete relationship between cleft palate and the female gender was noticed (53%, and males were more affected by the other types of clefts (around 60%. The findings revealed a predominance of complete clefts of the primary and secondary palate, the treatment of which is more complex, and whose frequency is greater in males.Foi objetivo do presente estudo investigar a distribuição atual dos vários tipos de fissuras entre pacientes que compareceram ao Hospital de Reabilitação de Anomalias Craniofaciais (HRAC-USP, Bauru, Brasil, pela primeira vez, no ano de 2000. No total, 803 pacientes não operados com fissura de lábio e/ou palato, com ou sem malformações adicionais, sem síndromes reconhecíveis, compareceram ao HRAC-USP para inscrição para tratamento durante o ano de 2000. Foi observada predominância de fissura completa de lábio e palato, unilateral ou bilateral (37,1%, seguida pela fissura de palato isolada (31,7% e fissura de lábio isolada (28,4%. Foi notada uma relação discreta entre a fissura de palato e o gênero feminino (53%, sendo o gênero masculino mais afetado pelos outros tipos de fissuras (cerca de 60%. Os achados revelaram uma predominância de fissuras completas do palato primário e secundário, cujo tratamento é mais complexo, e uma maior ocorrência no gênero masculino.

  7. Investigation of implicit avoidance of displacement-related stimuli in offspring of trauma exposed, forcibly-displaced individuals.

    Science.gov (United States)

    Wittekind, Charlotte E; Muhtz, Christoph; Moritz, Steffen; Jelinek, Lena

    2017-02-03

    There is an ongoing debate as to whether traumatization also affects the close relatives of trauma survivors who have symptoms of PTSD. Although many studies provide evidence favoring a transgenerational transmission, other studies have not found evidence to support this idea. The present study examined whether adult offspring of individuals exposed to trauma during forced displacement with (n=22) and without PTSD (n=24) exhibit an implicit avoidance of stimuli related to the parental trauma compared to children of non-trauma exposed control participants (n=23) using an Approach-Avoidance task (AAT). Offspring participants were requested to push (i.e., avoidance) or pull (i.e., approach) displacement-related and neutral pictures, whereby response direction depended on a non-affective dimension (color of the pictures). Results suggest that the offspring of non-PTSD participants exhibit implicit avoidance of displacement-related stimuli. This rather unexpected finding might either indicate resilience amongst offspring of PTSD participants or that offspring of non-PTSD participants are particularly affected. If these results were to replicate, they suggest that implicit avoidance tendencies amongst the offspring of trauma exposed participants might partially contribute to their heightened PTSD vulnerability. Longitudinal studies are needed to elucidate whether implicit avoidance tendencies are associated with increased stress vulnerability.

  8. A rare case of sirenomelia with total bilateral cleft lip palate and kyphoscoliosis

    Directory of Open Access Journals (Sweden)

    Sangeeta Arya

    2013-04-01

    Full Text Available Sirenomelia, a rare congenital deformity, has fused lower limbs with variable combination of visceral anomalies. This condition is fatal within a day or two of birth so early antenatal detection and pregnancy termination is advocated. Antenatally it can be diagnosed by ultrasonography showing oligohydramnios, renal agenesis and fibulae positioned between the tibiae. A 24 years old Muslim primigravida came for first antenatal check up at 18 weeks of pregnancy. She didn’t turn up and came directly in emergency at 37 weeks in active labor and delivered a baby weighing 1.8 kg with a small sized placenta, complete bilateral cleft lip palate, Kyphoscoliosis and fused lower limbs upto ankles. Baby expired after 25 minutes of birth. Till now around 300 cases of Sirenomelia have been reported worldwide. All human cases of Sirenomelia have been found to be associated with variable degree of renal and urethral dysplasia or renal agenesis. External genitalia are affected, whereas gonads remain unaffected. In rare cases Sirenomelia is associated with upper body defects including cleft palate, cervical and upper thoracic vertebral abnormalities, pulmonary hypoplasia and cardiac defects. [Int J Reprod Contracept Obstet Gynecol 2013; 2(2.000: 242-244

  9. Speech therapy for errors secondary to cleft palate and velopharyngeal dysfunction.

    Science.gov (United States)

    Kummer, Ann W

    2011-05-01

    Individuals with a history of cleft lip/palate or velopharyngeal dysfunction may demonstrate any combination of speech sound errors, hypernasality, and nasal emission. Speech sound distortion can also occur due to other structural anomalies, including malocclusion. Whenever there are structural anomalies, speech can be affected by obligatory distortions or compensatory errors. Obligatory distortions (including hypernasality due to velopharyngeal insufficiency) are caused by abnormal structure and not by abnormal function. Therefore, surgery or other forms of physical management are needed for correction. In contrast, speech therapy is indicated for compensatory articulation productions where articulation placement is changed in response to the abnormal structure. Speech therapy is much more effective if it is done after normalization of the structure. When speech therapy is appropriate, the techniques involve methods to change articulation placement using standard articulation therapy principles. Oral-motor exercises, including the use of blowing and sucking, are never indicated to improve velopharyngeal function. The purpose of this article is to provide information regarding when speech therapy is appropriate for individuals with a history of cleft palate or other structural anomalies and when physical management is needed. In addition, some specific therapy techniques are offered for the elimination of common compensatory articulation productions.

  10. 3D-CT evaluation of secondary alveolar bone grafts in alveolar clefts

    Energy Technology Data Exchange (ETDEWEB)

    Naitoh, Hiroshi; Nishimura, Yoshihiko [Kyoto Univ. (Japan). Graduate School of Medicine; Yamawaki, Yoshiroh [Kyoto Katsura Hospital (Japan); Morimoto, Naoki [Kobe City General Hospital (Japan)

    2002-07-01

    From 1994 to 2000, we treated 116 patients with cleft alveolus by secondary alveolar bone grafts, and 48 of them were evaluated morphologically with 3D-CT. The frequency of successful bony bridging was significantly higher in the group whose grafts were completely enveloped (including the anterior alveolar ridge) with a mucoperiosteal flap. The frequency was also significantly higher in the group who underwent bone grafts at the age of 13 or less, and canine eruptions did not influence the ratio. Some cases showed such an improved growth pattern of grafted bone that the shape of the affected maxilla resembled that of the normal side, after long-term follow-up observations. The growth increment was remarkable in anterior maxillary height. Orthodontic management guides the canine or incisor into the reconstructed area of the previous cleft. We surmise that the new occlusal position puts pressure on the grafted bone and promotes further osteogenesis. These findings show that it is important to produce sufficient bony bridge to guide the canine or incisor, not the volume of grafted bone, in secondary alveolar bone grafts. Long-term follow-up observation, after more than 2-3 years, is also necessary to evaluate secondary alveolar bone grafts. (author)

  11. Parent-offspring conflict and the persistence of pregnancy-induced hypertension in modern humans

    DEFF Research Database (Denmark)

    Hollegaard, Birgitte; Byars, Sean Geoffrey; Lykke, Jacob;

    2013-01-01

    Preeclampsia is a major cause of perinatal mortality and disease affecting 5-10% of all pregnancies worldwide, but its etiology remains poorly understood despite considerable research effort. Parent-offspring conflict theory suggests that such hypertensive disorders of pregnancy may have evolved ...

  12. Signs of a higher prevalence of autoimmune thyroiditis in female offspring of bipolar parents

    NARCIS (Netherlands)

    Hillegers, Manon H. J.; Reichart, Catrien G.; Wals, Marjolein; Verhulst, Frank C.; Ormel, Johan; Nolen, Willem A.; Drexhage, Hemmo A.

    2007-01-01

    Background: Studies are inconsistent as to whether patients with bipolar disorder are more frequently affected by autoimmune thyroiditis. Aim: To study the prevalence of autoimmune thyroiditis in offspring of bipolar patients. Method: In 1998 140 children (age 12-21 years) of bipolar parents were ev

  13. Maternal overweight before pregnancy and asthma in offspring followed for 8 years.

    NARCIS (Netherlands)

    Scholtens, S.; Wijga, A.H.; Brunekreef, B.; Kerkhof, M.; Postma, D.S.; Oldenwening, M.; de Jongste, J.C.; Smit, H.A.

    2010-01-01

    OBJECTIVE: The aim of this study was to investigate the association between maternal overweight before pregnancy and offspring asthma in an ongoing birth cohort study. Maternal overweight may affect the pulmonary and immunological development of the fetus in utero because of the increased levels of

  14. Maternal overweight before pregnancy and asthma in offspring followed for 8 years

    NARCIS (Netherlands)

    Scholtens, S.; Wijga, A. H.; Brunekreef, B.; Kerkhof, M.; Postma, D. S.; Oldenwening, M.; de Jongste, J. C.; Smit, H. A.

    2010-01-01

    Objective: The aim of this study was to investigate the association between maternal overweight before pregnancy and offspring asthma in an ongoing birth cohort study. Maternal overweight may affect the pulmonary and immunological development of the fetus in utero because of the increased levels of

  15. Parental provisioning in relation to offspring sex and sex ratio in the great tit (Parus major)

    NARCIS (Netherlands)

    Michler, Stephanie P. M.; Bleeker, Maarten; van der Velde, Marco; Both, Christiaan; Komdeur, Jan; Tinbergen, Joost M.

    2010-01-01

    Sex-biased parental care is expected if the offspring sexes differ in their energetic needs or if they differentially affect their parents' reproductive success after independence. Furthermore, parents should adjust provisioning rate and prey size to the needs of individual nestlings and the entire

  16. Experimental Evidence for Genetic Heritability of Maternal Hormone Transfer to Offspring

    NARCIS (Netherlands)

    Okuliarova, Monika; Groothuis, Ton G. G.; Skrobanek, Peter; Zeman, Michal; Škrobánek, Peter; Ketterson, Ellen D.; McPeek, Mark A.

    2011-01-01

    In many animal species, embryos are exposed to maternal hormones that affect their development. Maternal hormone transfer varies with environmental conditions of the mother and is often interpreted as being shaped by natural selection to adjust the offspring to prevailing environmental conditions. S

  17. Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil

    Directory of Open Access Journals (Sweden)

    A.P.C. Brandalize

    2007-06-01

    Full Text Available Non-syndromic cleft lip and palate (CL/P occurs due to interaction between genetic and environmental factors. Abnormalities in homocysteine metabolism may play a role in its etiology due to polymorphisms in genes involved in this pathway. Because of the involvement of MTHFR, MTR and MTRR genes with folate metabolism and the evidence that maternal use of folic acid in early pregnancy reduces the risk for CL/P, we evaluated the influence of their polymorphisms on the etiology of CL/P through a case-control study. The analyses involved 114 non-syndromic phenotypically white children with clefts (case and 110 mothers, and 100 non-affected (control children and their mothers. The polymorphisms 677C>T of MTHFR, 2756A>G of MTR, and 66A>G of MTRR genes were analyzed by PCR-RFLP. Allelic frequencies did not differ from other studies conducted on white populations for MTHFR 677T allele (0.35 and for MTR 2756G allele (0.17, but MTRR 66G allele frequency (0.35 was lower than observed elsewhere. The genotypic distribution of the 677C>T polymorphisms under study did not show significant differences between CL/P patients, their mothers and controls. These results suggest that the alterations of folate metabolism related to these polymorphisms are not involved in clefting in the population under study.

  18. Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.

    Science.gov (United States)

    Pengelly, R J; Upstill-Goddard, R; Arias, L; Martinez, J; Gibson, J; Knut, M; Collins, A L; Ennis, S; Collins, A; Briceno, I

    2015-11-01

    Individuals from three families ascertained in Bogota, Colombia, showing syndromic phenotypes, including cleft lip and/or palate, were exome-sequenced. In each case, sequencing revealed the underlying causal variation confirming or establishing diagnoses. The findings include very rare and novel variants providing insights into genotype and phenotype relationships. These include the molecular diagnosis of an individual with Nager syndrome and a family exhibiting an atypical incontinentia pigmenti phenotype with a missense mutation in IKBKG. IKBKG mutations are typically associated with preterm male death, but this variant is associated with survival for 8-15 days. The third family exhibits unusual phenotypic features and the proband received a provisional diagnosis of Pierre Robin sequence (PRS). Affected individuals share a novel deleterious mutation in IRF6. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndrome and contribute to nonsyndromic cleft lip phenotypes but have not previously been associated with a PRS phenotype. Exome sequencing followed by in silico screening to identify candidate causal variant(s), and functional assay in some cases offers a powerful route to establishing molecular diagnoses. This approach is invaluable for conditions showing phenotypic and/or genetic heterogeneity including cleft lip and/or palate phenotypes where many underlying causal genes have not been identified.

  19. Protective effects of maternal methyl donor supplementation on adult offspring of high fat diet-fed dams.

    Science.gov (United States)

    Jiao, Fei; Yan, Xiaoshuang; Yu, Yuan; Zhu, Xiao; Ma, Ying; Yue, Zhen; Ou, Hailong; Yan, Zhonghai

    2016-08-01

    Obesity has become a global public health problem associated with metabolic dysfunction and chronic disorders. It has been shown that the risk of obesity and the DNA methylation profiles of the offspring can be affected by maternal nutrition, such as high-fat diet (HFD) consumption. The aim of this study was to investigate whether metabolic dysregulation and physiological abnormalities in offspring caused by maternal HFD can be alleviated by the treatment of methyl donors during pregnancy and lactation of dams. Female C57BL/6 mice were assigned to specific groups and given different nutrients (control diet, Control+Met, HFD and HFD+Met) throughout gestation and lactation. Offspring of each group were weaned onto a control diet at 3 weeks of age. Physiological (weight gain and adipose composition) and metabolic (plasma biochemical analyses) outcomes were assessed in male and female adult offspring. Expression and DNA methylation profiles of obesogenic-related genes including PPAR γ, fatty acid synthase, leptin and adiponectin were also detected in visceral fat of offspring. The results showed that dietary supplementation with methyl donors can prevent the adverse effects of maternal HFD on offspring. Changes in the expression and DNA methylation of obesogenic-related genes indicated that epigenetic regulation may contribute to the effects of maternal dietary factors on offspring outcomes.

  20. Management of cleft lip and palate in adults

    Directory of Open Access Journals (Sweden)

    Murthy Jyotsna

    2009-10-01

    Full Text Available Introduction: With advancement of medical services in developed countries and awareness among the patients, it is rare to find an adult with an unoperated cleft lip and palate. However, the scenario is totally different in developing countries. Working as a part of a team in developing country, where co-coordinated team work is primitive, resources to provide treatment are very thin, public awareness of availability of treatment for this anomaly is minimal, the age of patients reaching for primary treatment varies from few days to late forties. Though the aim and aspiration is to provide holistic multidisciplinary care, the priority is getting treatment for all cleft patients. In such situation, the management of cleft lip and palate demands changes of approach, techniques and philosophy. Aims and Objectives: The deformed anatomy especially the facial bones and dentition is described. Due to well established deformities, the approach for management is individualized. The procedures and modification of procedures has been described. Results and Outcome: The outcome of the primary repair is adults certainly have less than satisfactory outcome for obvious reasons. The expected outcome and expectation of patients and families following primary surgeries in cleft lip and palate has been discussed. Though all adult patients got some improvement in speech after palate repair, achieving normal speech was difficult. The naso-labial appearance was not perfect, but well accepted by the patients and families. There are many psychosocial problems in these patients, the objective evaluation could not be done due to too many variables. However, primary repair of cleft lip and palate is justified and beneficial for the patients.

  1. Bite force evaluation in subjects with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Carla Renata Sipert

    2009-04-01

    Full Text Available The purpose of this study was to evaluate the masticatory function of subjects with cleft lip and palate by analyzing the bite force developed by these individuals. Bite force was evaluated in a group of 27 individuals with repaired unilateral cleft lip and palate (14 males and 13 females - aged 18-26 years and compared to the data achieved from a group of 20 noncleft subjects (10 males and 10 females - aged 18-26 years. Measurement was achieved on three positions within the dental arch (incisors, right molars and left molars, three times at each position considering the highest value for each one. Statistical analysis was performed by ANOVA and Mann-Whitney test ( α = 5%. There was a significant deficit in bite force in male individuals with cleft lip and palate compared to the male control group (p=0.02, p=0.004, p=0.003 for incisors, right and left molars, respectively. For the female group, the difference was not statistically significant (p=0.79, p=0.06, p=0.47. In the group of individuals with clefts, 92.6% were under orthodontic treatment, which could be a reason for the present findings, since it can decrease the bite force more remarkably in males than in females. In conclusion, the bite force is significantly reduced in men when comparing the cleft group to the noncleft group. In females, this reduction was not significant in the same way. However, the main reason for this reduction and for the different behavior between genders should be further investigated.

  2. Factors related to quality of life and satisfaction with nasal appearance in patients treated for unilateral cleft lip and palate.

    Science.gov (United States)

    Mani, Maria; Reiser, Erika; Andlin-Sobocki, Anna; Skoog, Valdemer; Holmström, Mats

    2013-07-01

    Objective : To identify factors related to quality of life (QoL) and satisfaction with nasal appearance among patients treated for unilateral cleft lip and palate (UCLP). Design : Cross-sectional population study with long-term follow-up. Patients/Settings : All patients with UCLP born between 1960 and 1987, treated at Uppsala University Hospital, were invited (n  =  109); 86 (79%) participated. Mean follow-up time was 35 years. Main Outcome Measures : Quality of life was measured with Short Form-36 (SF-36) and analyzed using mental and physical cluster scores (MCS and PCS). Nasal appearance was self-assessed with the "Satisfaction With Appearance" questionnaire and by panel judgment. Multivariate regression analyses explored endogenous factors (age, gender, infancy cleft width, nasal function, nasolabial appearance) and exogenous factors (marital status, number of children, education level, operation method, number of rhinoplasties performed). Results : A larger cleft width in infancy was associated with less satisfaction with nasal appearance as adults. A lower mental health QoL was associated with less satisfaction with nasal appearance. Despite female gender being linked to less satisfaction with nasal appearance, it was associated with higher mental health QoL. Higher resistance during nasal breathing was associated with lower physical health QoL. Conclusions : Gender and infant cleft width may affect QoL and satisfaction with nasal appearance among adults. They are potential predictive factors for satisfaction with nasal appearance and QoL during adulthood. The correlation of nasal function impairment and decreased physical health QoL underlines the importance of treatment of nasal symptoms in these patients.

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

    Science.gov (United States)

    A cleft palate goat model was used to study the contractile properties of the levator veli palatini (LVP) muscle which is responsible for the movement of the soft palate. In 15-25% of patients that undergo palatoplasty, residual velopharyngeal insufficiency (VPI) remains a problem and often require...

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

    Science.gov (United States)

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

    2015-01-01

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

  5. Orthodontic treatment results following grafting autologous mandibular bone to the alveolar cleft in patients with a complete unilateral cleft.

    NARCIS (Netherlands)

    Ruiter, A. de; Bilt, A. van der; Meijer, G.J.; Koole, R.

    2010-01-01

    OBJECTIVE: To analyze orthodontic treatment results following mandibular symphysis bone grafting and postoperative orthodontic treatment. DESIGN: Randomized selection of 75 patients out of 308 with unilateral cleft of lip, alveolus, and palate, operated upon according to protocol between 1990 and 20

  6. A Comparative Study of Oral Microbiota in Infants with Complete Cleft Lip and Palate or Cleft Soft Palate

    Science.gov (United States)

    Tanasiewicz, Marta

    2017-01-01

    Few reports have been published on the early microbiota in infants with various types of cleft palate. We assessed the formation of the oral microbiota in infants with complete cleft lip and palate (CLP n = 30) or cleft soft palate (CSP n = 25) in the neonatal period (T1 time) and again in the gum pad stage (T2 time). Culture swabs from the tongue, palate, and/or cleft margin at T1 and T2 were taken. We analysed the prevalence of the given bacterial species (the percentage) and the proportions in which the palate and tongue were colonised by each microorganism. At T1, Streptococcus mitis (S. mitis) were the most frequently detected in subjects with CLP or CSP (63% and 60%, resp.). A significantly higher frequency of methicillin-sensitive Staphylococcus aureus (S. aureus MSSA) was observed in CLP compared to the CSP group. At T2, significantly higher percentages of S. mitis, S. aureus MSSA, Staphylococcus epidermidis, and members of the Enterobacteriaceae family were noted in CLP infants compared to the CSP. S. mitis and Streptococcus sanguinis appeared with the greatest frequency on the tongue, whereas Streptococcus salivarius was predominant on the palate. The development of the microbiota in CLP subjects was characterised by a significant increase in the prevalence of pathogenic bacteria.

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

    Directory of Open Access Journals (Sweden)

    Yifan Lin

    Full Text Available To evaluate, using cone-beam computed tomography (CBCT, both the condylar-fossa relationships and the mandibular and condylar asymmetries between unilateral cleft lip and palate (UCLP patients and non-cleft patients with class III skeletal relationship, and to investigate the factors of asymmetry contributing to chin deviation.The UCLP and non-cleft groups consisted of 30 and 40 subjects, respectively, in mixed dentition with class III skeletal relationships. Condylar-fossa relationships and the dimensional and positional asymmetries of the condyles and mandibles were examined using CBCT. Intra-group differences were compared between two sides in both groups using a paired t-test. Furthermore, correlations between each measurement and chin deviation were assessed.It was observed that 90% of UCLP and 67.5% of non-cleft subjects had both condyles centered, and no significant asymmetry was found. The axial angle and the condylar center distances to the midsagittal plane were significantly greater on the cleft side than on the non-cleft side (P=0.001 and P=0.028, respectively and were positively correlated with chin deviation in the UCLP group. Except for a larger gonial angle on the cleft side, the two groups presented with consistent asymmetries showing shorter mandibular bodies and total mandibular lengths on the cleft (deviated side. The average chin deviation was 1.63 mm to the cleft side, and the average absolute chin deviation was significantly greater in the UCLP group than in the non-cleft group (P=0.037.Compared with non-cleft subjects with similar class III skeletal relationships, the subjects with UCLP showed more severe lower facial asymmetry. The subjects with UCLP presented with more asymmetrical positions and rotations of the condyles on axial slices, which were positively correlated with chin deviation.

  8. Comprehensive Survey of Intestinal Microbiota Changes in Offspring of Human Microbiota-Associated Mice

    Science.gov (United States)

    von Klitzing, Eliane; Öz, Fulya; Ekmekciu, Ira; Escher, Ulrike; Bereswill, Stefan; Heimesaat, Markus M.

    2017-01-01

    Secondary abiotic mice generated by broad-spectrum antibiotic treatment provide a valuable tool for association studies with microbiota derived from different vertebrate hosts. We here generated human microbiota-associated (hma) mice by human fecal microbiota transplantation of secondary abiotic mice and performed a comprehensive survey of the intestinal microbiota dynamics in offspring of hma mice over 18 weeks following weaning as compared to their mothers applying both cultural and molecular methods. Mice were maintained under standard hygienic conditions with open cages, handled under aseptic conditions, and fed autoclaved chow and water. Within 1 week post weaning, fecal loads of commensal enterobacteria and enterococci had decreased, whereas obligate anaerobic bacteria such as Bacteroides/Prevotella species and clostridia were stably colonizing the intestines of hma offspring at high loads. Lactobacilli numbers were successively increasing until 18 weeks post weaning in both hma offspring and mothers, whereas by then, bifidobacteria were virtually undetectable in the former only. Interestingly, fecal lactobacilli and bifidobacteria were higher in mothers as compared to their offspring at 5 and 18 weeks post weaning. We conclude that the intestinal microbiota composition changes in offspring of hma mice, but also their mothers over time particularly affecting aerobic and microaerobic species. PMID:28386472

  9. Offspring Hormones Reflect the Maternal Prenatal Social Environment: Potential for Foetal Programming?

    Science.gov (United States)

    Meise, Kristine; von Engelhardt, Nikolaus; Forcada, Jaume; Hoffman, Joseph Ivan

    2016-01-01

    Females of many species adaptively program their offspring to predictable environmental conditions, a process that is often mediated by hormones. Laboratory studies have shown, for instance, that social density affects levels of maternal cortisol and testosterone, leading to fitness-relevant changes in offspring physiology and behaviour. However, the effects of social density remain poorly understood in natural populations due to the difficulty of disentangling confounding influences such as climatic variation and food availability. Colonially breeding marine mammals offer a unique opportunity to study maternal effects in response to variable colony densities under similar ecological conditions. We therefore quantified maternal and offspring hormone levels in 84 Antarctic fur seals (Arctocephalus gazella) from two closely neighbouring colonies of contrasting density. Hair samples were used as they integrate hormone levels over several weeks or months and therefore represent in utero conditions during foetal development. We found significantly higher levels of cortisol and testosterone (both P < 0.001) in mothers from the high density colony, reflecting a more stressful and competitive environment. In addition, offspring testosterone showed a significant positive correlation with maternal cortisol (P < 0.05). Although further work is needed to elucidate the potential consequences for offspring fitness, these findings raise the intriguing possibility that adaptive foetal programming might occur in fur seals in response to the maternal social environment. They also lend support to the idea that hormonally mediated maternal effects may depend more strongly on the maternal regulation of androgen rather than cortisol levels. PMID:26761814

  10. Maternal obesity and malnourishment exacerbate perinatal oxidative stress resulting in diabetogenic programming in F1 offspring.

    Science.gov (United States)

    Saad, M I; Abdelkhalek, T M; Haiba, M M; Saleh, M M; Hanafi, M Y; Tawfik, S H; Kamel, M A

    2016-06-01

    The effect of in-utero environment on fetal health and survival is long-lasting, and this is known as the fetal origin hypothesis. The oxidative stress state during gestation could play a pivotal role in fetal programming and development of diseases such as diabetes. In this study, we investigated the effect of intra-uterine obesity and malnutrition on oxidative stress markers in pancreatic and peripheral tissues of F1 offspring both prenatally and postnatally. Furthermore, the effect of postnatal diet on oxidative stress profile was evaluated. The results indicated that intra-uterine obesity and malnourishment significantly increased oxidative stress in F1 offspring. Moreover, the programming effect of obesity was more pronounced and protracted than malnutrition. The obesity-induced programming of offspring tissues was independent of high-caloric environment that the offspring endured; however, high-caloric diet potentiated its effect. In addition, pancreas and liver were the most affected tissues by fetal reprogramming both prenatally and postnatally. In conclusion, maternal obesity and malnutrition-induced oxidative stress could predispose offspring to insulin resistance and diabetes.

  11. Parent-offspring conflict and the persistence of pregnancy-induced hypertension in modern humans

    DEFF Research Database (Denmark)

    Hartsteen, Birgitte Hollegaard; Byars, Sean Geoffrey; Lykke, Jacob;

    2013-01-01

    Preeclampsia is a major cause of perinatal mortality and disease affecting 5-10% of all pregnancies worldwide, but its etiology remains poorly understood despite considerable research effort. Parent-offspring conflict theory suggests that such hypertensive disorders of pregnancy may have evolved...... through the ability of fetal genes to increase maternal blood pressure as this enhances general nutrient supply. However, such mechanisms for inducing hypertension in pregnancy would need to incur sufficient offspring health benefits to compensate for the obvious risks for maternal and fetal health...... that offspring exposed to pregnancy-induced hypertension (PIH) in trimester 1 had significantly reduced overall later-life disease risks, but increased risks when PIH exposure started or developed as preeclampsia in later trimesters. Similar patterns were found for first-year mortality. These results suggest...

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1992-12-01

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

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

    Directory of Open Access Journals (Sweden)

    João Paulo Schwartz

    2014-01-01

    Full Text Available OBJECTIVE: This study aimed at carrying out a radiographic analysis on the prevalence of dental anomalies of number (agenesis and supernumerary teeth in permanent dentition, in different subphenotypes of isolated cleft palate pre-adolescent patients. METHODS: Panoramic radiographs of 300 patients aged between 9 and 12 years, with cleft palate and enrolled in a single treatment center, were retrospectively analyzed. The sample was divided into two groups according to the extension/severity of the cleft palate: complete and incomplete . The chi-square test was used for intergroup comparison regarding the prevalence of the investigated dental anomalies (P < 0.05. RESULTS: Agenesis was found in 34.14% of patients with complete cleft palate and in 30.27% of patients with incomplete cleft palate. Supernumerary teeth were found in 2.43% of patients with complete cleft palate and in 0.91% of patients with incomplete cleft palate. No statistically significant difference was found between groups with regard to the prevalence of agenesis and supernumerary teeth. There was no difference in cleft prevalence between genders within each study group. CONCLUSION: The prevalence of dental anomalies of number in pre-adolescents with cleft palate was higher than that reported for the general population. The severity of cleft palate did not seem to be associated with the prevalence of dental anomalies of number.

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

    Directory of Open Access Journals (Sweden)

    Seunghee Ha

    2015-01-01

    Full Text Available 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.

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

    Science.gov (United States)

    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.

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

    DEFF Research Database (Denmark)

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

    2015-01-01

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

  17. Resource elasticity of offspring survival and the optimal evolution of sex ratios.

    Directory of Open Access Journals (Sweden)

    Rui-Wu Wang

    Full Text Available The fitness of any organisms includes the survival and reproductive rate of adults and the survival of their offspring. Environmental selection pressures might not affect these two aspects of an organism equally. Assuming that an organism first allocates its limited resources to maintain its survival under environmental selection pressure, our model, based on the evolutionarily stable strategy theory, surprisingly shows that the sex ratio is greatly affected by the environmental pressure intensity and by the reproductive resource elasticity of offspring survival. Moreover, the concept of the resource elasticity of offspring survival intrinsically integrates the ecological concepts of K selection and r selection. The model shows that in a species with reproductive strategy K, increased environmental selection pressure will reduce resource allocation to the male function. By contrast, in a species with reproductive strategy r, harsher environmental selection pressure will increase allocation to the male function. The elasticity of offspring survival might vary not only across species, but also across many other factors affecting the same species (e.g., age structure, spatial heterogeneity, which explains sex ratio differences across species or age structures and spatial heterogeneity in the same species.

  18. Offspring's Tolerance of Mother Goes Viral.

    Science.gov (United States)

    Kinder, Jeremy M; Jiang, Tony T; Way, Sing Sing

    2016-05-17

    Pregnancy uniquely allows genetically discordant tissues of the mother and child to intimately coexist in harmony. In this issue of Immunity, Ou and colleagues show that hepatitis B virus exploits these naturally occurring immune tolerance pathways to establish persistent postnatal infection in offspring.

  19. Morning sickness: impact on offspring salt preference.

    Science.gov (United States)

    Crystal, S R; Bernstein, I L

    1995-12-01

    These studies examined the relationship between salt preference of adult offspring and their mothers' symptoms of morning sickness during pregnancy. College students who could provide information about their mothers' symptoms of morning sickness completed a survey about their dietary salt intake (study 1; n = 169) or rated and consumed ten snack foods (study 2; n = 66). In study 1 a salt-use score was calculated based on responses to the Salt Intake Questionnaire; offspring of women with moderate or severe vomiting reported a significantly higher level of salt use (p < 0.01) than those whose mothers report little or no symptoms. In study 2 saltiness and pleasantness ratings of high-salt foods, intake of those foods and total sodium intake were the focus of analysis. Offspring of women reporting moderate or severe vomiting showed a significantly greater preference for the snack food subjects rated as saltiest than those whose mothers reported no or mild vomiting. They also ate more of that food and consumed more total sodium during the test session. Effects were stronger in Caucasian than Asian subjects. These studies suggest that moderate to severe vomiting during pregnancy can be associated with significantly higher salt intake in offspring. Thus, a gestational event may be an important determinant of salt intake and preference in adulthood.

  20. Maternal high fat feeding does not have long-lasting effects on body composition and bone health in female and male Wistar rat offspring at young adulthood.

    Science.gov (United States)

    Miotto, Paula M; Castelli, Laura M; Amoye, Foyinsola; LeBlanc, Paul J; Peters, Sandra J; Roy, Brian D; Ward, Wendy E

    2013-12-06

    High fat diets adversely affect body composition, bone mineral and strength, and alter bone fatty acid composition. It is unclear if maternal high fat (HF) feeding permanently alters offspring body composition and bone health. Female rats were fed control (CON) or HF diet for 10 weeks, bred, and continued their diets throughout pregnancy and lactation. Male and female offspring were studied at weaning and 3 months, following consumption of CON diet. At weaning, but not 3 months of age, male and female offspring from dams fed HF diet had lower lean mass and higher fat and bone mass, and higher femur bone mineral density (females only) than offspring of dams fed CON diet. Male and female offspring femurs from dams fed HF diet had higher monounsaturates and lower n6 polyunsaturates at weaning than offspring from dams fed CON diet, where females from dams fed HF diet had higher saturates and lower n6 polyunsaturates at 3 months of age. There were no differences in strength of femurs or lumbar vertebrae at 3 months of age in either male or female offspring. In conclusion, maternal HF feeding did not permanently affect body composition and bone health at young adulthood in offspring.

  1. Effects of the use of assisted reproductive technologies and an obesogenic environment on resistance artery function and diabetes biomarkers in mice offspring.

    Directory of Open Access Journals (Sweden)

    Francisco I Ramirez-Perez

    Full Text Available Maternal obesity affects the incidence of cardiovascular disease and diabetes in offspring. Also the use of assisted reproductive technologies (ART has been associated with cardiovascular deficiencies in offspring. Obese women often suffer from infertility and use ART to achieve a pregnancy, but the combined effects of maternal obesity and ART on cardiovascular health and incidence of diabetes in the offspring is not known. Here, we report the effects of the use of ART within an obesogenic environment, consisting of feeding a western diet (WD to dams and offspring, on resistance artery function and presence of diabetes biomarkers in juvenile mice offspring. Our results indicate that WD and ART interacted to induce endothelial dysfunction in mesenteric resistance arteries isolated from 7-week-old mice offspring. This was determined by presence of a reduced acetylcholine-induced dilation compared to controls. The arteries from these WD-ART mice also had greater wall cross-sectional areas and wall to lumen ratios indicative of vascular hypertrophic remodeling. Of the diabetes biomarkers measured, only resistin was affected by a WD×ART interaction. Serum resistin was significantly greater in WD-ART offspring compared to controls. Diet and sex effects were observed in other diabetes biomarkers. Our conclusion is that in mice the use of ART within an obesogenic environment interacts to favor the development of endothelial dysfunction in the resistance arteries of juvenile offspring, while having marginal effects on diabetes biomarkers.

  2. Effects of prenatal stress on development and health of offspring and its potential mechanisms%产前应激对子代的影响及潜在作用机制

    Institute of Scientific and Technical Information of China (English)

    郑阿迪; 刘健康; 冯智辉

    2014-01-01

    Inappropriate diet and stress in maternal pregnancy may affect the development of the offspring . Brain dysfunction and some chronic diseases such as obesity and diabetes in offspring are associated with the factors during maternal pregnancy.Many researches focused on how prenatal stress affected cognitive function and behavior of the off -spring and how nutritional modulation might prevent the pathogenesis of such diseases .Here we summarize the effects of prenatal stress on the offspring and the potential mechanism , like hypothalamus-pituitary-adrenal axis (HPA), oxidative stress, apoptosis and inflammation, and the prevention of nutrient to offspring dysfunction by prenatal stress , based on our previous work and some existing references .

  3. Maternal diabetes mellitus and the origin of non-communicable diseases in offspring: the role of epigenetics.

    Science.gov (United States)

    Ge, Zhao-Jia; Zhang, Cui-Lian; Schatten, Heide; Sun, Qing-Yuan

    2014-06-01

    Offspring of diabetic mothers are susceptible to the onset of metabolic syndromes, such as type 2 diabetes and obesity at adulthood, and this trend can be inherited between generations. Genetics cannot fully explain how the noncommunicable disease in offspring of diabetic mothers is caused and inherited by the next generations. Many studies have confirmed that epigenetics may be crucial for the detrimental effects on offspring exposed to the hyperglycemic environment. Although the adverse effects on epigenetics in offspring of diabetic mothers may be the result of the poor intrauterine environment, epigenetic modifications in oocytes of diabetic mothers are also affected. Therefore, the present review is focused on the epigenetic alterations in oocytes and embryos of diabetic mothers. Furthermore, we also discuss initial mechanistic insight on maternal diabetes mellitus causing alterations of epigenetic modifications.

  4. Olfactory cleft computed tomography analysis and olfaction in chronic rhinosinusitis

    Science.gov (United States)

    Kohli, Preeti; Schlosser, Rodney J.; Storck, Kristina

    2016-01-01

    Background: Volumetric analysis of the olfactory cleft by using computed tomography has been associated with olfaction in patients with chronic rhinosinusitis (CRS). However, existing studies have not comprehensively measured olfaction, and it thus remains unknown whether correlations differ across specific dimensions of odor perception. Objective: To use comprehensive measures of patient-reported and objective olfaction to evaluate the relationship between volumetric olfactory cleft opacification and olfaction. Methods: Olfaction in patients with CRS was evaluated by using “Sniffin' Sticks” tests and a modified version of the Questionnaire of Olfactory Disorders. Olfactory cleft opacification was quantified by using two- and three-dimensional, computerized volumetric analysis. Correlations between olfactory metrics and olfactory cleft opacification were then calculated. Results: The overall CRS cohort included 26 patients without nasal polyposis (CRSsNP) (68.4%) and 12 patients with nasal polyposis (CRSwNP) (31.6%). Across the entire cohort, total olfactory cleft opacification was 82.8%, with greater opacification in the CRSwNP subgroup compared with CRSsNP (92.3 versus 78.4%, p < 0.001). The percent total volume opacification correlated with the total Sniffin' Sticks score (r = −0.568, p < 0.001) as well as individual threshold, discrimination, and identification scores (p < 0.001 for all). Within the CRSwNP subgroup, threshold (r = −0.616, p = 0.033) and identification (r = −0.647, p = 0.023) remained highly correlated with total volume opacification. In patients with CRSsNP, the threshold correlated with total volume scores (r = −0.457, p = 0.019), with weaker and nonsignificant correlations for discrimination and identification. Correlations between total volume opacification and the Questionnaire of Olfactory Disorders were qualitatively similar to objective olfactory findings in both CRSwNP (r = −0.566, p = 0.070) and CRSsNP (r = −0.310, p

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1993-11-01

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

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

    Science.gov (United States)

    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.

  7. The generation of live offspring from vitrified oocytes.

    Directory of Open Access Journals (Sweden)

    L Gabriel Sanchez-Partida

    Full Text Available Oocyte cryopreservation is extremely beneficial for assisted reproductive technologies, the treatment of infertility and biotechnology and offers a viable alternative to embryo freezing and ovarian grafting approaches for the generation of embryonic stem cells and live offspring. It also offers the potential to store oocytes to rescue endangered species by somatic cell nuclear transfer and for the generation of embryonic stem cells to study development in these species. We vitrified mouse oocytes using a range of concentrations of trehalose (0 to 0.3 M and demonstrated that 0.1 and 0.3 M trehalose had similar developmental rates, which were significantly different to the 0.2 M cohort (P<0.05. As mitochondria are important for fertilisation outcome, we observed that the clustering and distribution of mitochondria of the 0.2 M cohort were more affected by vitifrication than the other groups. Nevertheless, all 3 cohorts were able to develop to blastocyst, following in vitro fertilisation, although developmental rates were better for the 0.1 and 0.3 M cohorts than the 0.2 M cohort (P<0.05. Whilst blastocysts gave rise to embryonic stem-like cells, it was apparent from immunocytochemistry and RT-PCR that these cells did not demonstrate true pluripotency and exhibited abnormal karyotypes. However, they gave rise to teratomas following injection into SCID mice and differentiated into cells of each of the germinal layers following in vitro differentiation. The transfer of 2-cell embryos from the 0.1 and 0.3 M cohorts resulted in the birth of live offspring that had normal karyotypes (9/10. When 2-cell embryos from vitrified oocytes underwent vitrification, and were thawed and transferred, live offspring were obtained that exhibited normal karyotypes, with the exception of one offspring who was larger and died at 7 months. We conclude that these studies highlight the importance of the endometrial environment for the maintenance of genetic stability and

  8. Maternal pinealectomy increases depressive-like responses in Siberian hamster offspring.

    Science.gov (United States)

    Workman, Joanna L; Weil, Zachary M; Tuthill, Christiana R; Nelson, Randy J

    2008-06-01

    This study investigated the effect of maternal pinealectomy and postnatal pinealectomy on affective responses. Siberian hamsters were born to either pinealectomized or sham-operated dams and then underwent pinealectomy or a sham operation. Maternal pinealectomy increased depressive-like responses of offspring in the forced swim test. Maternal pinealectomy increased rearing behaviour and postnatal pinealectomy increased locomotor behaviour in the open field test. These results suggest that prenatal melatonin organizes adult affective responses.

  9. Mitochondrial gene replacement in primate offspring and embryonic stem cells.

    Science.gov (United States)

    Tachibana, Masahito; Sparman, Michelle; Sritanaudomchai, Hathaitip; Ma, Hong; Clepper, Lisa; Woodward, Joy; Li, Ying; Ramsey, Cathy; Kolotushkina, Olena; Mitalipov, Shoukhrat

    2009-09-17

    Mitochondria are found in all eukaryotic cells and contain their own genome (mitochondrial DNA or mtDNA). Unlike the nuclear genome, which is derived from both the egg and sperm at fertilization, the mtDNA in the embryo is derived almost exclusively from the egg; that is, it is of maternal origin. Mutations in mtDNA contribute to a diverse range of currently incurable human diseases and disorders. To establish preclinical models for new therapeutic approaches, we demonstrate here that the mitochondrial genome can be efficiently replaced in mature non-human primate oocytes (Macaca mulatta) by spindle-chromosomal complex transfer from one egg to an enucleated, mitochondrial-replete egg. The reconstructed oocytes with the mitochondrial replacement were capable of supporting normal fertilization, embryo development and produced healthy offspring. Genetic analysis confirmed that nuclear DNA in the three infants born so far originated from the spindle donors whereas mtDNA came from the cytoplast donors. No contribution of spindle donor mtDNA was detected in offspring. Spindle replacement is shown here as an efficient protocol replacing the full complement of mitochondria in newly generated embryonic stem cell lines. This approach may offer a reproductive option to prevent mtDNA disease transmission in affected families.

  10. [Investigation of children with congenital cleft lip and palate by Eysenck personality questionnaire(Junior)

    Science.gov (United States)

    Zhang, H Z; Hu, J F

    1998-12-01

    OBJECTIVE: To approach the personality of the children suffering from congenital cleft lip and palate. METHODS: The subject were 50 children (aged 7 to 17) with congenital cleft lip and palate,and 50 normal children as control.Both groups were investigated by Eysenck personality questionnaire EPQ(Junior). RESULTS: According to the general quantitative table of EPQ(Junior),the abnormal cases in cleft group were significantly more than those in control(P<0.005),and also were the abnormal cases in the single quantitative or in the multiple quantitative tables of EPQ(Junior)(P<0.005) respectively. CONCLUSION: The poor personality in children with cleft lip and palate is correlated to the cleft condition.Therefore it is necessary to pay attention to the prevention of poor personality while the cleft lip and palate is treated.

  11. Post septorhinoplasty custom-made unilateral nasal stent for nasal cleft deformity

    Directory of Open Access Journals (Sweden)

    Manu Rathee

    2015-01-01

    Full Text Available Context: Nasal cleft deformity is a complicated problem. Utilization of nasal stent in post septorhinoplastyaims at establishing and maintaining airway patency, tissue position, and reduces tissue contracture after surgery. Case Report: A 16-year-old female patient presented with history of surgical reconstruction of congenital cleft lip and cleft palate with secondary septorhinoplasty of nasal cleft deformity. Patient was referred for nasal stent 1 week after septorhinoplasty. This case report provides a novel technique for fabrication of esthetic nasal stent after postseptorhinoplasty for secondary cleft nose deformity correction. Conclusion: This case report presents a simple, convenient technique for nasal stent fabrication for prevention of restenosis for cleft nose deformity post secondary septorhinoplasty. Provision of nasal stent allows breathing, maintains esthetics, comfort, nasal patency, and contour with minimal discomfort.

  12. Cholesteatoma risk in 8,593 orofacial cleft cases and 6,989 siblings

    DEFF Research Database (Denmark)

    Djurhuus, Bjarki Ditlev; Skytthe, Axel; Faber, Christian Emil

    2015-01-01

    249,708 persons without an orofacial cleft was created, and 175,724 siblings to these persons were identified. These controls underwent 485 and 332 first-time cholesteatoma surgeries, respectively. For individuals with cleft lip and palate the HR for cholesteatoma surgery was 14 (95% confidence...... increase in the risk of cholesteatoma was found in individuals with cleft palate, whereas cleft lip did not pose a risk of cholesteatoma. Furthermore, the study indicates an increased risk of cholesteatoma in unaffected siblings of individuals with cleft palate. LEVEL OF EVIDENCE: 2b Laryngoscope, 2014.......OBJECTIVES/HYPOTHESIS: To estimate the risk of surgically treated middle ear cholesteatoma in individuals with a nonsyndromic orofacial cleft and in their siblings compared with the general population. STUDY DESIGN: Historical cohort study. METHODS: Using the unique civil registration number...

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

    Science.gov (United States)

    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.

  14. Bridging the synaptic cleft: lessons from orphan glutamate receptors.

    Science.gov (United States)

    Schmid, Sabine M; Hollmann, Michael

    2010-08-24

    For neurons to communicate, signals must cross the cell-to-cell distance at their points of contact. At the predominant cell-cell contact in the central nervous system, the chemical synapse, the synaptic cleft spans roughly 20 nanometers. To signal across this distance, the presynaptic neuron secretes a diffusible neurotransmitter, which is detected by receptors on the postsynaptic neuron. Although this signaling mechanism has become common knowledge, it remains unclear how synapses are maintained when they are not in immediate use. New evidence reveals how Nature solved this problem at a particular type of synapse in the cerebellum: Three old acquaintances bridge the cleft. The ionotropic glutamate receptor GluD2 constitutes the postsynaptic anchor that indirectly interacts with the presynaptic anchor neurexin through a presynaptically secreted soluble factor, a member of the C1q protein family named Cbln1. This trio collaborates to align pre- and postsynaptic sides.

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

    Directory of Open Access Journals (Sweden)

    Shailesh Solanki

    2016-01-01

    Full Text Available 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.

  16. Velopharyngeal sphincter pathophysiologic aspects in the in cleft palat

    Directory of Open Access Journals (Sweden)

    Collares, Marcus Vinicius Martins

    2008-09-01

    Full Text Available Introduction: Cleft lip and palate are common congenital abnormalities with typical functional disorders on speech, deglutition and middle ear function. Objective: This article reviews functional labiopalatine disorders through a pathophysiological view. Method: We performed a literature search on line, as well as books and periodicals related to velopharyngeal sphincter. Our sources were LILACS, MEDLINE and SciELO databases, and we applied to the research Keywords of interest on the velopharyngeal pathophysiology, for articles published between 1965 and 2007. Conclusion: Velopharyngeal sphincter plays a central role in speech, swallowing and middle ear physiology in patients with labiopalatine cleft. At the end of our bibliographic review, pursuant to the velopharyngeal physiology in individuals with this disorder in the functional speech, deglutition and otologic function, we observed that although there is a great number of published data discussing this issue, further studies are necessary to completely understand the pathophysiology, due to the fact they have been exploited superficially.

  17. 腭裂、唇裂及腭裂伴有唇裂疾病及手术编码的探讨%Discussion on the Disease and Surgery Coding of Cleft palate, Cleft Lip and Cleft Palate

    Institute of Scientific and Technical Information of China (English)

    郑金龙

    2015-01-01

    唇裂和腭裂是最常见的先天性畸形之一。依据疾病和有关健康问题的国际统计分类第十次修订本(ICD-10)第二版,针对不同临床分型,对唇裂、腭裂、腭裂伴唇裂相关情况疾病给出正确编码,同时对唇裂、腭裂、腭裂伴唇裂常见手术给出正确编码。编码员编码时要认真阅读病案及与临床医师沟通,根据ICD-10分类轴心,将唇裂、腭裂、腭裂伴有唇裂的临床分类与ICD-10分类进行对应,按照编码规则进行准确编码。%Cleft lip and palate is one of the most common congenital malformations. In this paper, based on the International statistical classification of diseases and related health problems(ICD-10), for different clinical types of cleft lip, cleft palate, cleft lip and cleft palate with secondary deformity of disease and give the correct surgery coding. When coders coding they should carefully read the medical records and communicate with clinicians to determine the cleft lip, cleft palate, cleft lip with a specific type of cleft palate and related specific surgical repair, make accurate coding according to the encoding rules.

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

    DEFF Research Database (Denmark)

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

    2007-01-01

    Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes, we investigated the role of skewed X...... of XCI was defined as the deviation in inactivation pattern from a 50:50 ratio. Our analysis revealed no significant difference in the degree of skewing between twin pairs (P = 0.3). However, borderline significant differences were observed in the sister pairs (P = 0.02), with the cleft lip with cleft......, particularly cleft lip and palate....

  19. Toward a reconsideration of inclusion and exclusion criteria in cleft lip and palate: implications for psychological research.

    Science.gov (United States)

    Feragen, Kristin Billaud; Stock, Nicola Marie; Rumsey, Nichola

    2014-09-01

    Background : This article investigates the prevalence of conditions that affect cognitive and/or psychosocial functioning in 10-year-old children born with a cleft lip and/or palate (CL/P) and explores how the presence of such additional difficulties may affect the reporting of outcomes in psychological research. Design : Cross-sectional data derived from routine psychological assessments. Setting : Centralized treatment, Norway. Participants : Data on cleft type and additional conditions were collected for 754 children with CL/P from 11 consecutive birth cohorts. Data on psychological adjustment were collected for three consecutive birth cohorts (n = 169). Main Outcome Measures : The Strengths and Difficulties Questionnaire (SDQ), completed by children and parents. Results : A total of 240 children (32%) in the sample had an additional condition, such as developmental delay, attention deficit/hyperactivity disorder, or a specific language impairment or dyslexia. Analysis of SDQ scores using conventional exclusion criteria (approach 1) was compared with a second method (approach 2), which included all children and categorized them according to the presence or absence of additional conditions. Significant variation in profiles of psychosocial adjustment was found depending on the approach to exclusion. Conclusions : The presence of additional conditions in a sample may affect results and subsequently the conclusions drawn in relation to the psychosocial adjustment of children born with CL/P. The present study emphasizes the importance of careful assessments and reporting of all associated conditions, in order to improve the understanding of the impact of a cleft and the consequences of associated conditions in this population.

  20. [A case of EEC (ectrodactyly, ectodermal dysplasia, and cleft lip) syndrome].

    Science.gov (United States)

    Nakamura, K; Yoshimasu, H; Komuro, C; Kobayashi, A; Moon, K; Sato, M; Yamashiro, M; Arai, N; Shioiri, S; Amagasa, T

    1991-12-01

    EEC syndrome is a rare congenital malformation characterized by ectrodactyly, ectodermal dysplasia, cleft lip and/or palate. We reported a case of EEC syndrome with cleft palate. The patient was a 15-month-old girl. She had split hands of the upper extremities, syndactyly and polydactyly of the right lower extremity, ectodermal dysplasia including sparse hair, enamel hypoplasia and cleft palate. The patient underwent palatoplasty at the age of 18 months.

  1. Application of high resolution SNP arrays in patients with congenital oral clefts in south China

    Indian Academy of Sciences (India)

    TING-YING LEI; HONG-TAO WANG; FAN LI; YING-QIU CUI; FANG FU; RU LI; CAN LIAO

    2016-12-01

    Chromosome microarray analysis (CMA) has proven to be a powerful tool in postnatal patients with intellectual disabilities. However, the diagnostic capability of CMA in patients with congenital oral clefts remain mysterious. Here, we present ourclinical experience in implementing whole-genome high-resolution SNP arrays to investigate 33 patients with syndromic and nonsyndromic oral clefts in whom standard karyotyping analyses showed normal karyotypes. We aim to identify the genomic aetiology and candidate genes in patients with congenital oral clefts. CMA revealed copy number variants (CNVs) in every patient, which ranged from 2 to 9 per sample. The size of detected CNVs varied from 100 to 3.2 Mb. In 33 patients, we identified six clinically significant CNVs. The incidence of clinically significant CNVs was 18.2% (6/33). Three of these six CNVs were detected in patients with nonsyndromic clefts, including one who presented with isolated cleft lip with cleft palate (CLP) and two with cleft palate only (CPO). The remaining three CNVs were detected in patients with syndromic clefts. However, no CNV was detected in patients with cleft lip only (CLO). The six clinically significant CNVs were as follows: 8p23.1 microduplication (198 kb); 10q22.2-q22.3 microdeletion (1766 kb); 18q12.3 microduplication (638 kb); 20p12.1 microdeletion (184 kb); 6q26 microdeletion (389 kb); and 22q11.21-q11.23 microdeletion (3163 kb). In addition, two novel candidate genes for oral clefts, KAT6B and MACROD2, were putatively identified. We also found a CNV of unknown clinical significance witha detection rate of 3.0% (1/33). Our results further support the notion that CNVs significantly contributed to the genetic aetiology of oral clefts and emphasize the efficacy of whole-genome high-resolution SNP arrays to detect novel candidate genes in patients with syndromic and nonsyndromic clefts.

  2. Complete sternal cleft associated with right clavicular, manubrial, and thyroid hypoplasia, pectus deformity, and spinal anomalies.

    Science.gov (United States)

    Golden, Eleza T; Alazraki, Adina; Loewen, Jonathan; Braithwaite, Kiery

    2016-01-01

    Sternal cleft anomalies are rare. Associated anomalies include pentalogy of Cantrell and posterior fossa abnormalities, hemangiomas, arteriopathy, cardiac anomalies, eye abnormalities, and sternal defects syndrome. There is only a single report of complete sternal cleft, pectus excavatum, and right clavicular hypoplasia in an adult. Thyroid hemiagenesis is also very rare. To our knowledge, this is the first case of complete sternal cleft, pectus deformity, and right clavicular hypoplasia in a child and the first case with right thyroid hemiagenesis.

  3. Incidence of cleft Lip and palate in the state of Andhra Pradesh, South India

    Directory of Open Access Journals (Sweden)

    Reddy Srinivas

    2010-01-01

    Full Text Available Objective: To assess the incidence of cleft lip and palate defects in the state of Andhra Pradesh, India. Design Setting: The study was conducted in 2001 in the state of Andhra Pradesh, India. The state has a population of 76 million. Three districts, Cuddapah, Medak and Krishna, were identified for this study owing to their diversity. They were urban, semi-urban and rural, respectively. Literacy rates and consanguinity of the parents was elicited and was compared to national averages to find correlations to cleft births. Type and side of cleft were recorded to compare with other studies around the world and other parts of India. Results: The birth rate of clefts was found to be 1.09 for every 1000 live births. This study found that 65% of the children born with clefts were males. The distribution of the type of cleft showed 33% had CL, 64% had CLP, 2% had CP and 1% had rare craniofacial clefts. Unilateral cleft lips were found in 79% of the patients. Of the unilateral cleft lips 64% were left sided. There was a significant correlation of children with clefts being born to parents who shared a consanguineous relationship and those who were illiterate with the odds ratio between 5.25 and 7.21 for consanguinity and between 1.55 and 5.85 for illiteracy, respectively. Conclusion: The birth rate of clefts was found to be comparable with other Asian studies, but lower than found in other studies in Caucasian populations and higher than in African populations. The incidence was found to be similar to other studies done in other parts of India. The distribution over the various types of cleft was comparable to that found in other studies.

  4. Presurgical nasoalveolar molding in unilateral cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Rahul J Hegde

    2015-01-01

    Full Text Available 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.

  5. Argon laser photocoagulation of cyclodialysis clefts after cataract surgery

    Energy Technology Data Exchange (ETDEWEB)

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

    1995-06-01

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

  6. Epidemiology, Etiology and Treatment of Isolated Cleft Palate

    Directory of Open Access Journals (Sweden)

    Madeleine L Burg

    2016-03-01

    Full Text Available 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 children 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 both 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 exposure has been found to have a strong association 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 potential 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.

  7. Chemical meningitis: a rare presentation of Rathke's cleft cyst.

    Science.gov (United States)

    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.

  8. Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome

    Directory of Open Access Journals (Sweden)

    Mohita Marwaha

    2012-01-01

    Full Text Available The ectodermal dysplasias (EDs are a large and complex group of diseases. More than 170 different clinical conditions have been recognized and defined as ectodermal dysplasias. Commonly involved ectodermal-derived structures are hair, teeth, nails, and sweat glands. In some conditions, it may be associated with mental retardation. We report a case of 10-year-old male child with ectrodactyly, syndactyly, ED, cleft lip/palate, hearing loss, and mental retardation.

  9. A modified feeding plate for a newborn with cleft palate.

    Science.gov (United States)

    Erkan, Mustafa; Karaçay, Seniz; Atay, Arzu; Günay, Yumuşhan

    2013-01-01

    Objectives : Cleft palate is a common congenital maxillofacial defect. We wish to present the fabrication of a modified feeding plate that will adapt to the changing palatal and velopharyngeal morphology during function. Case Report : A neonate with unilateral cleft lip and palate was referred to our clinic for the fabrication of a feeding plate. Intraoral examination revealed a cleft involving the uvula and the soft palate, with an alveolar defect on the left side. An impression was taken and a dental cast was obtained. A 1-mm Bioplast clear soft plate was pressed on the model. After trimming the edges of the plate, several retentive holes were made for its attachment to the hard plate. With the Bioplast soft plate replaced on the cast, plaster was used to cover parts of the soft plate that were not to come in contact with the hard plate. Biocryl resin was put on the retentive holes and 2-mm Biocryl C Rosa-transparent plate was pressed. The edges of the plate were cut, trimmed, and polished. Conclusion : This modified feeding plate effectively obstructed the soft palate defect. The adaptation of the flexible bulb of the appliance with the soft palate was excellent. Evaluation with nasoendoscopy revealed the synchronized movement of the bulb of the appliance with the soft palate during swallowing. Soft extension of the feeding plate eliminated the risk of irritation, and the baby accepted the appliance easily.

  10. The role of folate metabolism in orofacial development and clefting.

    Science.gov (United States)

    Wahl, Stacey E; Kennedy, Allyson E; Wyatt, Brent H; Moore, Alexander D; Pridgen, Deborah E; Cherry, Amanda M; Mavila, Catherine B; Dickinson, Amanda J G

    2015-09-01

    Folate deficiency has been associated with numerous diseases and birth defects including orofacial defects. However, whether folate has a role in the face during early orofacial development has been unclear. The present study reveals that pharmacological and antisense oligonucleotide mediated inhibition of DHFR, an integral enzyme in the folate pathway, results in specific changes in the size and shape of the midface and embryonic mouth. Such defects are accompanied by a severe reduction in the muscle and cartilage jaw elements without significant change in neural crest pattern or global levels of methylation. We propose that the orofacial defects associated with DHFR deficient function are the result of decreased cell proliferation and increased cell death via DNA damage. In particular, localized apoptosis may also be depleting the cells of the face that express crucial genes for the differentiation of the jaw structures. Folate supplementation is widely known to reduce human risk for orofacial clefts. In the present study, we show that activating folate metabolism can reduce median oral clefts in the primary palate by increasing cell survival. Moreover, we demonstrate that a minor decrease in DHFR function exacerbates median facial clefts caused by RAR inhibition. This work suggests that folate deficiencies could be a major contributing factor to multifactorial orofacial defects.

  11. A Review of Hearing Loss in Cleft Palate Patients

    Directory of Open Access Journals (Sweden)

    Bilal Gani

    2012-01-01

    Full Text Available Background. Cleft palate is associated with recurrent otitis media with effusion and hearing loss. This study analysed the way these patients’ hearing is managed in Alder Hey Children’s Hospital. Method. A retrospective audit was carried out on cleft palate patients in Alder Hey Children’s Hospital. Audiology assessment and treatment options were reviewed. Comparisons were made between the use of ventilation tubes (VTs and hearing aids (HAs. The types of cleft, types of hearing loss, and the management output of the audiology regions were also reviewed. Results. The audiology assessments of 254 patients were examined. The incidence of VT insertion in this group of patients was 18.9%. The hearing aid incidence rate was 10.1%. The VT-related complication rate was 25.5% and the HA related complication rate was 9.1%. Conclusion. The data demonstrates that both treatments are viable, and a new protocol which combines the short term benefit of VT insertion with the lower complication rate of HA is required.

  12. FRONTAL COLUMELLAR FLAP IN UNILATERAL CLEFT LIP REPAIR

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    The authors modified the design of Mohler's method of cleft lip repair, and attempted to make this method more reasonable, standard and surgically applicable, yield better outcome and to broaden the indications. In the modified Mohler technique, wherein designing and dissecting of the flap and the orbicular oris muscle are done separately, the author created an equilateral triangle flap (side≤6mm) from the frontal part of the columella.The flap is rotated and displaced downwards so that the atrophic philtral dimple is lengthened, the philtral column is reconstructed in such a way that the involved side of the Cupid's bow peak is restored to the normal position. From 1998 to 2000, the authors used this modified method to correct unilateral cleft lips in 38 patients. The results showed that the skin of the frontal columella and that of the philtral dimple were structurely similar, and so is ideal material for repairing the atrophied philtral dimple. The modified Mohler method for unilateral cleft lips can produce a better lip contour and broaden the indications.

  13. The effects of breeding protocol in C57BL/6J mice on adult offspring behaviour.

    Directory of Open Access Journals (Sweden)

    Claire J Foldi

    Full Text Available Animal experiments have demonstrated that a wide range of prenatal exposures can impact on the behaviour of the offspring. However, there is a lack of evidence as to whether the duration of sire exposure could affect such outcomes. We compared two widely used methods for breeding offspring for behavioural studies. The first involved housing male and female C57Bl/6J mice together for a period of time (usually 10-12 days and checking for pregnancy by the presence of a distended abdomen (Pair-housed; PH. The second involved daily introduction of female breeders to the male homecage followed by daily checks for pregnancy by the presence of vaginal plugs (Time-mated; TM. Male and female offspring were tested at 10 weeks of age on a behavioural test battery including the elevated plus-maze, hole board, light/dark emergence, forced swim test, novelty-suppressed feeding, active avoidance and extinction, tests for nociception and for prepulse inhibition (PPI of the acoustic startle response. We found that length of sire exposure (LSE had no significant effects on offspring behaviour, suggesting that the two breeding protocols do not differentially affect the behavioural outcomes of interest. The absence of LSE effects on the selected variables examined does not detract from the relevance of this study. Information regarding the potential influences of breeding protocol is not only absent from the literature, but also likely to be of particular interest to researchers studying the influence of prenatal manipulations on adult behaviour.

  14. Obesity at conception programs the opioid system in the offspring brain.

    Science.gov (United States)

    Grissom, Nicola M; Lyde, Randolph; Christ, Lori; Sasson, Isaac E; Carlin, JesseLea; Vitins, Alexa P; Simmons, Rebecca A; Reyes, Teresa M

    2014-03-01

    Maternal obesity during pregnancy increases the risk for offspring obesity, in part through effects on the developing brain. Previous research has shown that perinatal consumption of highly palatable foods by the mother can influence the development of offspring taste preferences and alter gene expression within the central nervous system (CNS) reward system. Opioids stimulate consumption of both fats and carbohydrates, and overconsumption of these energy dense foods increases the risk for obesity. What has remained unclear is whether this risk can be transmitted to the offspring before gestation or if it is wholly the gestational exposure that affects offspring brain development. Utilizing an embryo transfer experimental design, 2-cell embryos were obtained from obese or control dams, and transferred to obese or control gestational carriers. Expression of the mu-opioid receptor (MOR), preproenkephalin (PENK), and the dopamine transporter was evaluated in the hypothalamus and reward circuitry (ventral tegmental area, prefrontal cortex, and nucleus accumbens) in adult and late embryonic brains. Obesity before pregnancy altered expression levels of both MOR and PENK, with males relatively more affected than females. These data are the first to demonstrate that obesity at conception, in addition to during gestation, can program the brain reward system.

  15. Evaluation of two putative susceptibility loci for oral clefts in the Danish population

    DEFF Research Database (Denmark)

    Mitchell, L E; Murray, J C; O'Brien, S;

    2001-01-01

    Previous studies suggest that the risk of nonsyndromic cleft lip with or without cleft palate (CL+/-P) and isolated cleft palate (CP) is influenced by genetic variation at several loci and that the relation between specific genetic variants and disease risk may be modified by environmental factors....... The present study evaluated potential associations between CL+/-P and CP and two putative clefting susceptibility loci, MSX1 and TGFB3, using data from a nationwide case-control study conducted in Denmark from 1991 to 1994. The potential effects of interactions between these genes and two common environmental...

  16. Association of AXIN2 with Non-syndromic Oral Clefts in Multiple Populations

    Science.gov (United States)

    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

  17. The impact of cleft lip and palate repair on maxillofacial growth

    Institute of Scientific and Technical Information of China (English)

    Bing Shi; Joseph E Losee

    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.

  18. Perinatal Nicotine Exposure Increases Obesity Susceptibility in Adult Male Rat Offspring by Altering Early Adipogenesis.

    Science.gov (United States)

    Fan, Jie; Zhang, Wan-Xia; Rao, Yi-Song; Xue, Jing-Ling; Wang, Fei-Fei; Zhang, Li; Yan, You-E

    2016-11-01

    The present study aims to evaluate whether perinatal nicotine (NIC) exposure increases obesity susceptibility in adult male rat offspring by altering early adipogenesis. NIC was sc administered (2.0 mg/kg per day) to pregnant rats from gestational day 9 to the time of weaning (postnatal day 28). At weaning, NIC-exposed male pups had an increased body weight and inguinal sc fat mass and a decreased average cell area of adipocyte, which was accompanied by an overexpression of adipogenic and lipogenic genes in the epididymal white adipose tissue. Additionally, the hepatic lipogenic gene levels from NIC-exposed male pups were also affected. At 12 and 26 weeks of age, body weight and fat mass were increased, whereas there was no change in food intake in NIC-exposed male offspring. Adipogenic and lipogenic genes, glucose transporter 4, and leptin mRNA levels were increased, whereas adiponectin mRNA levels were decreased in the epididymal white adipose tissue of NIC-exposed males. The hepatic lipogenic gene expression of NIC-exposed males was increased. NIC-exposed male offspring showed normal glycemia and a higher serum insulin level, homeostasis model assessment of insulin resistance, and homeostasis model assessment of β-cell function. Furthermore, the NIC-exposed male offspring showed higher serum lipids and Castelli index I and lower nonesterified fatty acid. At 26 weeks, in the ip glucose and insulin tolerance tests, the glucose clearance was delayed, and the area under the curve was higher in the NIC-exposed male offspring. In conclusion, perinatal NIC exposure increased obesity susceptibility in adult male rat offspring by altering early adipogenesis.

  19. Bone loss in adult offspring induced by low-dose exposure to teratogens.

    Science.gov (United States)

    Torchinsky, Arkady; Mizrahi, Limor; Savion, Shoshana; Shahar, Ron; Toder, Vladimir; Kobyliansky, Eugene

    2012-05-01

    Maternal malnutrition during pregnancy was shown by numerous studies to result in the birth of offspring exhibiting altered bone characteristics, which are indicative of bone loss. We hypothesized that not only maternal malnutrition but also some developmental toxicants (teratogens) given at a dose inducing neither structural anomalies nor growth retardation can detrimentally affect skeletal health in adult offspring. To check this hypothesis, pregnant mice were exposed to a single injection of 5-aza-2-deoxycytidine (5-AZA) (a teratogen capable of inducing phocomelia of the hind limbs) at a sub-threshold teratogenic dose. Micro-computed tomography scanning revealed that femora of 5-month-old male offspring exposed in uterus to 5-AZA had trabecular microarchitecture indicative of bone loss. Furthermore, exposure to 5-AZA increased the susceptibility of offspring to postnatal chronic mild stress, which has been shown to induce bone loss in mice. While exploring possible mechanisms underlying this phenomenon, we observed that the expression of some microRNAs, which have been demonstrated as regulators of key osteoblastogenic genes, was altered in hind limb buds of embryos exposed to 5-AZA. Furthermore, the expression of receptor activator of nuclear factor kappa B ligand (RANKL) in femoral stromal/osteoblastic cells of 5-month-old offspring of 5-AZA-treated females was found to be increased. Collectively, this study implies for the first time that single low-dose exposure to a teratogen can induce bone loss in adult offspring, possibly via alteration of embryonic microRNAs and RANKL expression.

  20. Host gender and offspring quality in a flea parasitic on a rodent.

    Science.gov (United States)

    Khokhlova, Irina S; Serobyan, Vahan; Degen, A Allan; Krasnov, Boris R

    2010-10-01

    The quality of offspring produced by parent fleas (Xenopsylla ramesis) fed on either male or female rodent hosts (Meriones crassus) was studied. The emergence success, duration of development, resistance to starvation upon emergence and body size of the flea offspring were measured. It was predicted that offspring of fleas produced by parents that fed on male hosts (i) will survive better as pre-imago, (ii) will develop faster, (iii) will live longer under starvation after emergence and (iv) will be larger than offspring of fleas fed on female hosts. The emergence success of pre-imaginal fleas was relatively high, ranging from 46.9% to 100.0% and averaging 78.4±3.0%, and was not affected by host gender. The duration of development of pre-imaginal fleas depended on the gender of the host of parents and differed between male and female offspring, with female fleas developing faster. Furthermore, male fleas developed faster if their parents fed on female rather than on male hosts, whereas no difference in the duration of development between host genders was found in female fleas. The time to death under starvation did not depend on the gender of either the flea or the host. A newly emerged flea, on average, lived 31.9±1.0 days without access to food. The relationship between host gender and body size of male flea offspring was the only effect that supported the predictions. An increase in body size in male fleas could increase their mating success and, ultimately, their fitness.

  1. Cytoplasm Affects Embryonic Development

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    @@ Recent studies by CAS researchers furnish strong evidence that a fertilized egg's nucleus isn't the sole site of control for an embryo's development. A research team headed by Prof. Zhu Zuoyan from the CAS Institute of Hydrobiology in Wuhan discovered that cytoplasm affects the number of vertebrae in cloned offspring created when nuclei from one fish genus were transplanted to enucleated eggs of another.

  2. Maternal bereavement and cryptorchidism in offspring

    DEFF Research Database (Denmark)

    Ingstrup, Katja Glejsted; Olsen, Jørn; Wu, Chunsen;

    2015-01-01

    of a close relative in the antenatal period increases the occurrence of cryptorchidism in the offspring. METHODS: In a population-based cohort, we studied death of a close relative as the exposure and cryptorchidism entries in nationwide medical registries as the outcome. Danish national registries included......BACKGROUND: Cryptorchidism (undescended testis) is a common anomaly with largely unexplained etiology. Animal studies have suggested maternal emotional stress as a potential risk factor, but this has not been studied in humans. We aimed to investigate whether maternal bereavement due to the death...... 898,961 (23,609 exposed) boys born from 1978 to 2008 with a maximum of 30 years of follow-up. RESULTS: A total of 20,947 boys had cryptorchidism, of whom 13,524 also underwent corrective surgery. We found no increased occurrence of cryptorchidism in the offspring (hazard ratio = 1.02 [95% confidence...

  3. Sexual Risk Behaviors in the Adolescent Offspring of Parents with Bipolar Disorder: Prospective Associations with Parents' Personality and Externalizing Behavior in Childhood.

    Science.gov (United States)

    Nijjar, Rami; Ellenbogen, Mark A; Hodgins, Sheilagh

    2016-10-01

    We recently reported that adolescent and young adult offspring of parents with bipolar disorder (OBD), relative to control offspring, were more likely to engage in sexual risk behaviors (SRBs). The present prospective study aimed to determine the contribution of parents' personality and offspring behaviour problems in middle childhood to offspring SRBs 10 years later. We hypothesized that offspring externalizing problems in childhood would mediate the relationship between parents' personality traits of neuroticism and agreeableness and adolescent SRBs. Furthermore, we expected these associations to be more robust among the OBD than controls. At baseline, 102 offspring (52 OBD and 50 controls) aged between 4 and 14 years were assessed along with their parents, who completed a self-report personality measure and child behavior rating. Behaviour ratings were also obtained from the children's teachers. Ten years later the offspring completed an interview assessing SRBs. Mediation analyses using bootstrapping revealed that, after controlling for age and presence of an affective disorder, externalizing behaviors served as a pathway through which high parental neuroticism, low parental agreeableness, and low parental extraversion were related to SRBs in offspring. Moderated mediation analyses revealed that the relationship between parental neuroticism and childhood externalizing problems was stronger for OBD than controls. These findings add to our previous results showing parents' personality contributes to intergenerational risk transfer through behavioral problems in middle childhood. These results carry implications for optimal timing of preventative interventions in the OBD.

  4. Paternal B Vitamin Intake Is a Determinant of Growth, Hepatic Lipid Metabolism and Intestinal Tumor Volume in Female Apc1638N Mouse Offspring.

    Directory of Open Access Journals (Sweden)

    Julia A Sabet

    Full Text Available The importance of maternal nutrition to offspring health and risk of disease is well established. Emerging evidence suggests paternal diet may affect offspring health as well.In the current study we sought to determine whether modulating pre-conception paternal B vitamin intake alters intestinal tumor formation in offspring. Additionally, we sought to identify potential mechanisms for the observed weight differential among offspring by profiling hepatic gene expression and lipid content.Male Apc1638N mice (prone to intestinal tumor formation were fed diets containing replete (control, CTRL, mildly deficient (DEF, or supplemental (SUPP quantities of vitamins B2, B6, B12, and folate for 8 weeks before mating with control-fed wild type females. Wild type offspring were euthanized at weaning and hepatic gene expression profiled. Apc1638N offspring were fed a replete diet and euthanized at 28 weeks of age to assess tumor burden.No differences in intestinal tumor incidence or burden were found between male Apc1638N offspring of different paternal diet groups. Although in female Apc1638N offspring there were no differences in tumor incidence or multiplicity, a stepwise increase in tumor volume with increasing paternal B vitamin intake was observed. Interestingly, female offspring of SUPP and DEF fathers had a significantly lower body weight than those of CTRL fed fathers. Moreover, hepatic trigylcerides and cholesterol were elevated 3-fold in adult female offspring of SUPP fathers. Weanling offspring of the same fathers displayed altered expression of several key lipid-metabolism genes. Hundreds of differentially methylated regions were identified in the paternal sperm in response to DEF and SUPP diets. Aside from a few genes including Igf2, there was a striking lack of overlap between these genes differentially methylated in sperm and differentially expressed in offspring.In this animal model, modulation of paternal B vitamin intake prior to mating

  5. Paternal long-term exercise programs offspring for low energy expenditure and increased risk for obesity in mice.

    Science.gov (United States)

    Murashov, Alexander K; Pak, Elena S; Koury, Michael; Ajmera, Ajay; Jeyakumar, Maneesh; Parker, Matthew; Williams, Oksana; Ding, Jian; Walters, Dianne; Neufer, P Darrell

    2016-02-01

    Obesity has more than doubled in children and tripled in adolescents in the past 30 yr. The association between metabolic disorders in offspring of obese mothers with diabetes has long been known; however, a growing body of research indicates that fathers play a significant role through presently unknown mechanisms. Recent observations have shown that changes in paternal diet may result in transgenerational inheritance of the insulin-resistant phenotype. Although diet-induced epigenetic reprogramming via paternal lineage has recently received much attention in the literature, the effect of paternal physical activity on offspring metabolism has not been adequately addressed. In the current study, we investigated the effects of long-term voluntary wheel-running in C57BL/6J male mice on their offspring's predisposition to insulin resistance. Our observations revealed that fathers subjected to wheel-running for 12 wk produced offspring that were more susceptible to the adverse effects of a high-fat diet, manifested in increased body weight and adiposity, impaired glucose tolerance, and elevated insulin levels. Long-term paternal exercise also altered expression of several metabolic genes, including Ogt, Oga, Pdk4, H19, Glut4, and Ptpn1, in offspring skeletal muscle. Finally, prolonged exercise affected gene methylation patterns and micro-RNA content in the sperm of fathers, providing a potential mechanism for the transgenerational inheritance. These findings suggest that paternal exercise produces offspring with a thrifty phenotype, potentially via miRNA-induced modification of sperm.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-09-01

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

  7. Analysis on risk factors with congenital cleft lip and cleft palate%先天性唇腭裂危险因素分析

    Institute of Scientific and Technical Information of China (English)

    魏东义; 杨建斌

    2009-01-01

    目的 探讨先天性唇腭裂的危险因素,为预防先天性唇腭裂患儿出生提供科学的依据.方法 对先天性唇腭裂患儿285例行1:1病例对照研究.结果 家族史情况、孕早期放射线照射情况、毒物接触情况、孕早期感染情况以及孕妇的精神、职业6个因素与唇腭裂的发生有统计学联系(P<0.05).结论 预防先天性唇腭裂患儿的出生,必须作好产前诊断,避免接触环境中的致畸因素,保持孕期身体健康和精神愉快.%Objective To find the methods how to prevent the birth of infants through analyzing the risk factor of congenital cleft lip and cleft palate. Methods A case control study was conducted among the parents of 285 infants with cleft lip and cleft palate and the parents of 285 normal infants who were matched as the control. Results Accord-ing to simple factor analysis,6 factors were significantly associated with cleft lip and cleft palate(P <0. 05) ,including family history of cleft lip and cleft palate,ray irradiation,the toxic exposure,early infection,mental stress and job occu-pation in duration of pregnancy. Conclusions Prevention of congenital cleft lip and palate at birth, prenatal diagnosis must be ready to avoid exposure to teratogenic factors in the environment, and maintain good health during pregnancy and mental pleasure.

  8. Why Offspring in Nonhuman Families Differ

    Directory of Open Access Journals (Sweden)

    Scott Forbes

    2013-07-01

    Full Text Available Offspring within families, both human and nonhuman, often differ. The obvious question is: Why? Work on psychological differences on children within human families has focused primarily on differences in the nonshared environment of contemporary siblings, though the precise location of this nonshared environment is still the subject of much debate. Here I explore the range of explanations for within-brood diversity from the perspective of nonhuman families, particularly birds that share certain key features with human families. I examine the role of social rank in creating a nonshared environment within the family, and present data from a model system (an altricial bird to illustrate how different the effective environments experienced by offspring sitting side-by-side in the same confined physical space, tended by the same parents, and experiencing similar ecological variability, can be. These broodmates can effectively live in different worlds. I then briefly explore other sources of diversity among offspring in nonhuman families, including within brood genetic differences and non-genetic maternal (parental effects that often covary with birth / hatching rank. Given the ubiquity and far-reaching consequences of maternal effects in nonhuman families, and some human data suggestive of similar patterns, it would seem worthwhile to explore the potential role of maternal effects in creating phenotypic diversity in psychological traits among children in human families.

  9. Transmission of stress-induced learning impairment and associated brain gene expression from parents to offspring in chickens.

    Directory of Open Access Journals (Sweden)

    Christina Lindqvist

    Full Text Available BACKGROUND: Stress influences many aspects of animal behaviour and is a major factor driving populations to adapt to changing living conditions, such as during domestication. Stress can affect offspring through non-genetic mechanisms, but recent research indicates that inherited epigenetic modifications of the genome could possibly also be involved. METHODOLOGY/PRINCIPAL FINDINGS: Red junglefowl (RJF, ancestors of modern chickens and domesticated White Leghorn (WL chickens were raised in a stressful environment (unpredictable light-dark rhythm and control animals in similar pens, but on a 12/12 h light-dark rhythm. WL in both treatments had poorer spatial learning ability than RJF, and in both populations, stress caused a reduced ability to solve a spatial learning task. Offspring of stressed WL, but not RJF, raised without parental contact, had a reduced spatial learning ability compared to offspring of non-stressed animals in a similar test as that used for their parents. Offspring of stressed WL were also more competitive and grew faster than offspring of non-stressed parents. Using a whole-genome cDNA microarray, we found that in WL, the same changes in hypothalamic gene expression profile caused by stress in the parents were also found in the offspring. In offspring of stressed WL, at least 31 genes were up- or down-regulated in the hypothalamus and pituitary compared to offspring of non-stressed parents. CONCLUSIONS/SIGNIFICANCE: Our results suggest that, in WL the gene expression response to stress, as well as some behavioural stress responses, were transmitted across generations. The ability to transmit epigenetic information and behaviour modifications between generations may therefore have been favoured by domestication. The mechanisms involved remain to be investigated; epigenetic modifications could either have been inherited or acquired de novo in the specific egg environment. In both cases, this would offer a novel explanation to

  10. Cohort variation in offspring growth and survival: prenatal and postnatal factors in a late-maturing viviparous snake.

    Science.gov (United States)

    Baron, Jean-Pierre; Le Galliard, Jean-François; Tully, Thomas; Ferrière, Régis

    2010-05-01

    1. Recruitment to adulthood plays an important role in the population dynamics of late-maturing organisms as it is usually variable. Compared to birds and mammals, few studies assessing the contributions to this variation of environmental factors, offspring traits and maternal traits have been carried out for late-maturing snakes. 2. Cohort variation in recruitment through offspring growth and survival in the meadow viper (Vipera ursinii ursinii) was evaluated from 13 years of mark-recapture data collected at Mont Ventoux, France. In this species, females are mature at the age of 4-6 years and adult survival and fecundity rates are high and constant over time. 3. Offspring were difficult to catch during the first 3 years of their lives, but their mean annual probability of survival was reasonably high (0.48 +/- 0.11 SE). Mass and body condition at birth (mass residuals) varied significantly between years, decreased with litter size, and increased with maternal length. 4. Cohorts of offspring in better condition at birth grew faster, but offspring growth was not affected by sex, habitat or maternal traits. 5. Survival varied considerably between birth cohorts, some cohorts having a high-survival rate and others having essentially no survivors. No difference in mass or body condition at birth was found between cohorts with 'no survival' and 'good survival'. However, offspring survival in cohorts with good survival was positively correlated with mass at birth and negatively correlated with body condition at birth. 6. Thus, variation in offspring performance was influenced by direct environmental effects on survival and indirect environmental effects on growth, mediated by body condition at birth. Effects of maternal traits were entirely channelled through offspring traits.

  11. Excess body weight during pregnancy and offspring obesity: potential mechanisms.

    Science.gov (United States)

    Paliy, Oleg; Piyathilake, Chandrika J; Kozyrskyj, Anita; Celep, Gulcin; Marotta, Francesco; Rastmanesh, Reza

    2014-03-01

    The rates of child and adult obesity have increased in most developed countries over the past several decades. The health consequences of obesity affect both physical and mental health, and the excess body weight can be linked to an elevated risk for developing type 2 diabetes, cardiovascular problems, and depression. Among the factors that can influence the development of obesity are higher infant weights and increased weight gain, which are associated with higher risk for excess body weight later in life. In turn, mother's excess body weight during and after pregnancy can be linked to the risk for offspring overweight and obesity through dietary habits, mode of delivery and feeding, breast milk composition, and through the influence on infant gut microbiota. This review considers current knowledge of these potential mechanisms that threaten to create an intergenerational cycle of obesity.

  12. The molecular mechanisms of offspring effects from obese pregnancy.

    LENUS (Irish Health Repository)

    Dowling, Daniel

    2013-01-01

    The incidence of obesity, increased weight gain and the popularity of high-fat \\/ high-sugar diets are seriously impacting upon the global population. Billions of individuals are affected, and although diet and lifestyle are of paramount importance to the development of adult obesity, compelling evidence is emerging which suggests that maternal obesity and related disorders may be passed on to the next generation by non-genetic means. The processes acting within the uteri of obese mothers may permanently predispose offspring to a diverse plethora of diseases ranging from obesity and diabetes to psychiatric disorders. This review aims to summarise some of the molecular mechanisms and active processes currently known about maternal obesity and its effect on foetal and neonatal physiology and metabolism. Complex and multifactorial networks of molecules are intertwined and culminate in a pathologically synergistic manner to cause disruption and disorganisation of foetal physiology. This altered phenotype may potentiate the cycle of intergenerational transmission of obesity and related disorders.

  13. High salt intake in pregnancy alters maturation of glomeruli in the rat offspring

    Directory of Open Access Journals (Sweden)

    Nadezda Koleganova

    2012-06-01

    Full Text Available There is currently discussion on the optimal salt intake and uncertainty whether both high and low salt intake is associated with adverse effects. One aspect has so far not be considered, i.e. the potential impact of salt intake during pregnancy on kidney function and blood pressure in the offspring. Faulty fetal programming, amongst others by high or low salt intake, leads to alterations in kidney morphology and albuminuria in the offspring. A low number of glomeruli is known to cause high blood pressure later in life. It was the purpose of the present study to clarify whether very high (or low salt intakes in pregnancy affect kidney development in the offspring. Sprague-Dawley rats were fed normal (0.15%, medium (1.3%, or high (8.0% salt diet during pregnancy and weaning. The number of glomeruli (mature, immature, and S-shape bodies was assessed at 1 week postnatally. The expression of proteins of interest was assessed (by western blotting at 1 week postnatally and at term. There was no difference between the groups with respect to litter size, birth weight, and placenta size. At age 1 week the number of S-shaped bodies was significantly lower (405±308 and the number of mature glomeruli (818±405 and layers of developing glomeruli (7.1±0.6 was significantly higher in the offspring of mothers on high-salt compared to the medium or low salt groups (1044±490, 460±304, and 5.9±0.9 respectively. As a net result the total number of glomeruli was significantly lower in the offspring of mothers on high-salt (9476±1264 compared to the medium or low salt groups (11175±1920. At 1 week of age in the offspring of mothers on high salt the glomeruli were bigger compared to lower salt intake. The expression of Pax-2 (54±23% vs. 100±28% and FGF-2 (72±33% vs. 100±30% was significantly lower in the offspring of mothers on high-salt consistent with their causative role. We conclude that high maternal salt intake during pregnancy accelerates maturation

  14. Dental caries in the primary dentition of german children with cleft lip, alveolus, and palate.

    Science.gov (United States)

    Kirchberg, Anja; Makuch, Almut; Hemprich, Alexander; Hirsch, Christian

    2014-05-01

    Objective : The purpose of this cross-sectional study was to assess the prevalence of dental caries in children with cleft lip, alveolus, and/or cleft palate living in central Germany between 1996 and 2010. Participants : A total of 295 children 1 to 6 years of age from three birth cohorts (BC) with clefts from central Germany were included in the study. They were compared with 548 1- to 6-year-old cleft-free children from the same region. Setting : Children with clefts underwent a dental examination in an outpatient dental clinic at the University of Leipzig. The first BC was examined between 1996 and 1998, the second between 2002 and 2004, and the third between 2008 and 2010. Controls were examined at day-care centers in Leipzig during the same periods. Main Outcome Measure : The standard dental caries index for the primary dentition (dmf/t3-4) was used for clinical assessment. Results : Over the entire study period, the mean prevalence of dental caries in deciduous teeth was significantly higher (1.32 dmf/t3-4) in children with clefts compared with cleft-free children. However, a decline in caries (approximately 1 dmf/t3-4) and an increase in the proportion of children with healthy primary dentition were observed in both groups. These results represent a caries decline of 61% in children with clefts. Conclusions : Caries rates for children 1 to 6 years of age with clefts from central Germany showed a considerable decline over the last years. The caries rates for clefts patients in the third BC (2008 to 2010) was similar to that of cleft-free children in the first BC (1996 to 1998).

  15. Maternal Risk Factors for Oral Clefts: A Case-Control Study

    Directory of Open Access Journals (Sweden)

    Elham Mobasheri

    2011-01-01

    Full Text Available Introduction: A cleft lip with or without a cleft palate is one of the major congenital anomalies observed in newborns. This study explored the risk factors for oral clefts in Gorgan, Northern Iran.  Materials and Methods: This hospital-based case-control study was performed in three hospitals in Gorgan, Northern Iran between April 2006 and December 2009. The case group contained 33 newborns with oral clefts and the control group contained 63 healthy newborns. Clinical and demographic factors, including date of birth, gender of the newborns, type of oral cleft, consanguinity of the parents, parental ethnicity, and the mother's parity, age, education and intake of folic acid were recorded for analysis.  Results: A significant association was found between parity higher than 2 and the risk of an oral cleft (OR= 3.33, CI 95% [1.20, 9.19], P> 0.02. According to ethnicity, the odds ratio for oral clefts was 0.87 in Turkmens compared with Sistani people (CI 95% [0.25, 2.96] and 1.11 in native Fars people compared with Sistani people (CI 95% [0.38, 3.20]. A lack of folic acid consumption was associated with an increased risk of oral clefts but this was not statistically significant (OR = 1.42, CI 95% [0.58, 3.49]. There were no significant associations between sex (OR boy/girl = 0.96, CI 95% [0.41, 2.23], parent familial relations (OR = 1.07, CI 95% [0.43, 2.63], mother's age and oral clefts.  Conclusions:  The results of this study indicate that higher parity is significantly associated with an increased risk of an oral cleft, while Fars ethnicity and a low intake of folic acid increased the incidence of oral clefts but not significantly.

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

    DEFF Research Database (Denmark)

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

    2006-01-01

    Objective: Analysis of early postnatal mandibular size and growth velocity in children with untreated isolated cleft palate (ICP), nonsyndromic Robin sequence (RS), and a control group of children with unilateral incomplete cleft lip (UICL). Material: 114 children (66 isolated cleft palate, 7 Robin...... and mandibular growth velocity (mm/year) was calculated. Cleft width was measured on the casts at 2 months of age. Results: Mean mandibular length and posterior height were significantly smaller in isolated cleft palate and Robin sequence, compared with unilateral incomplete cleft lip. Mandibular length in Robin...... sequence, 41 unilateral incomplete cleft lip) drawn from a group representing all Danish cleft children born from 1976 through 1981. All children were examined at both 2 and 22 months of age. Methods: Cephalometric x-rays and maxillary plaster casts. Mandibular length and height were measured...

  17. Postoperative morbidity after reconstruction of alveolar bone defects with chin bone transplants in cleft patients - 111 consecutive patients

    DEFF Research Database (Denmark)

    Andersen, Kristian; Nørholt, Sven Erik; Knudsen, Johan;

    Postoperative morbidity after reconstruction of alveolar bone defects with chin bone transplants in cleft patients - 111 consecutive patients......Postoperative morbidity after reconstruction of alveolar bone defects with chin bone transplants in cleft patients - 111 consecutive patients...

  18. A Retrospective Study of Cleft lip and palate Patients' Satisfaction after Maxillary Distraction or Traditional Advancement of the Maxilla

    DEFF Research Database (Denmark)

    Andersen, Kristian; Nørholt, Sven Erik; Küseler, Annelise

    2012-01-01

    A Retrospective Study of Cleft lip and palate Patients' Satisfaction after Maxillary Distraction or Traditional Advancement of the Maxilla......A Retrospective Study of Cleft lip and palate Patients' Satisfaction after Maxillary Distraction or Traditional Advancement of the Maxilla...

  19. Development of the first permanent mandibular molar in young children with unilateral complete cleft lip and palate (UCCLP)

    DEFF Research Database (Denmark)

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

    Development of the first permanent mandibular molar in young children with unilateral complete cleft lip and palate (UCCLP)......Development of the first permanent mandibular molar in young children with unilateral complete cleft lip and palate (UCCLP)...

  20. Maternal stress induces epigenetic signatures of psychiatric and neurological diseases in the offspring.

    Directory of Open Access Journals (Sweden)

    Fabiola C R Zucchi

    Full Text Available The gestational state is a period of particular vulnerability to diseases that affect maternal and fetal health. Stress during gestation may represent a powerful influence on maternal mental health and offspring brain plasticity and development. Here we show that the fetal transcriptome, through microRNA (miRNA regulation, responds to prenatal stress in association with epigenetic signatures of psychiatric and neurological diseases. Pregnant Long-Evans rats were assigned to stress from gestational days 12 to 18 while others served as handled controls. Gestational stress in the dam disrupted parturient maternal behaviour and was accompanied by characteristic brain miRNA profiles in the mother and her offspring, and altered transcriptomic brain profiles in the offspring. In the offspring brains, prenatal stress upregulated miR-103, which is involved in brain pathologies, and downregulated its potential gene target Ptplb. Prenatal stress downregulated miR-145, a marker of multiple sclerosis in humans. Prenatal stress also upregulated miR-323 and miR-98, which may alter inflammatory responses in the brain. Furthermore, prenatal stress upregulated miR-219, which targets the gene Dazap1. Both miR-219 and Dazap1 are putative markers of schizophrenia and bipolar affective disorder in humans. Offspring transcriptomic changes included genes related to development, axonal guidance and neuropathology. These findings indicate that prenatal stress modifies epigenetic signatures linked to disease during critical periods of fetal brain development. These observations provide a new mechanistic association between environmental and genetic risk factors in psychiatric and neurological disease.

  1. Considerations Regarding Age at Surgery and Fistula Incidence Using One- and Two-stage Closure for Cleft Palate

    Directory of Open Access Journals (Sweden)

    Simona Stoicescu

    2013-12-01

    Full Text Available Introduction: Although cleft lip and palate (CLP is one of the most common congenital malformations, occurring in 1 in 700 live births, there is still no generally accepted treatment protocol. Numerous surgical techniques have been described for cleft palate repair; these techniques can be divided into one-stage (one operation cleft palate repair and two-stage cleft palate closure. The aim of this study is to present our cleft palate team experience in using the two-stage cleft palate closure and the clinical outcomes in terms of oronasal fistula rate. Material and methods: A retrospective analysis was performed on medical records of 80 patients who underwent palate repair over a five-year period, from 2008 to 2012. All cleft palate patients were incorporated. Information on patient’s gender, cleft type, age at repair, one- or two-stage cleft palate repair were collected and analyzed. Results: Fifty-three (66% and twenty-seven (34% patients underwent two-stage and one-stage repair, respectively. According to Veau classification, more than 60% of them were Veau III and IV, associating cleft lip to cleft palate. Fistula occurred in 34% of the two-stage repairs versus 7% of one-stage repairs, with an overall incidence of 24%. Conclusions: Our study has shown that a two-stage cleft palate closure has a higher rate of fistula formation when compared with the one-stage repair. Two-stage repair is the protocol of choice in wide complete cleft lip and palate cases, while one-stage procedure is a good option for cleft palate alone, or some specific cleft lip and palate cases (narrow cleft palate, older age at surgery

  2. Antibiotic treatment of pregnant non-obese diabetic mice leads to altered gut microbiota and intestinal immunological changes in the offspring.

    Science.gov (United States)

    Tormo-Badia, N; Håkansson, Å; Vasudevan, K; Molin, G; Ahrné, S; Cilio, C M

    2014-10-01

    The intestinal microbiota is important for tolerance induction through mucosal immunological responses. The composition of the gut microbiota of an infant is affected by environmental factors such as diet, disease and antibiotic treatment. However, already in utero, these environmental factors can affect the immunological development of the foetus and influence the future gut microbiota of the infant. To investigate the effects of antibiotic treatment of pregnant mothers on the offspring's gut microbiome and diabetes development, we treated non-obese diabetic (NOD) mice with a cocktail of antibiotics during gestation and the composition of the gut microbiota, diabetes incidence and major gut-related T lymphocyte populations were investigated in the offspring. We observed a persistent reduction in the general diversity of the gut microbiota in the offspring from NOD mothers treated with antibiotics during gestation compared with offspring from control mothers. In addition, by clustering the present bacterial taxa with principal component analysis, we found a differential clustering of gut microbiota in the offspring from NOD mothers treated with antibiotics during gestation compared with offspring from control mothers. Offspring from NOD mothers treated with antibiotics during gestation also showed some immunological alterations in the gut immune system, which could be related to the diversity of the gut microbiome and influence modulation of diabetes development at 20 weeks. Our data point out maternal derangement of the intestinal microbiota as a potential environmental risk factor for T1D development.

  3. The effects of paternal high-fat diet exposure on offspring metabolism with epigenetic changes in the mouse adiponectin and leptin gene promoters.

    Science.gov (United States)

    Masuyama, Hisashi; Mitsui, Takashi; Eguchi, Takeshi; Tamada, Shoko; Hiramatsu, Yuji

    2016-07-01

    Recent studies have demonstrated that epigenetic changes resulting from malnutrition might play important roles in transgenerational links with metabolic diseases. Previously, we observed that exposure to a high-fat diet (HFD) in utero caused a metabolic syndrome-like phenomenon through epigenetic modifications of the adiponectin and leptin genes that persisted for multiple generations. Recent etiological studies indicated that paternal BMI had effects on offspring BMI that were independent of but additive to maternal BMI effects. Thus, we examined whether paternal HFD-induced obesity affected the metabolic status of offspring through epigenetic changes in the adiponectin and leptin genes. Additionally, we investigated whether a normal diet during subsequent generations abolished the epigenetic changes associated with paternal HFD exposure before conception. We observed the effects of paternal HFD exposure before conception over multiple generations on offspring metabolic traits, including weight and fat gain, glucose intolerance, hypertriglyceridemia, abnormal adipocytokine levels, hypertension, and adiponectin and leptin gene expression and epigenetic changes. Normal diet consumption by male offspring during the subsequent generation following paternal HFD exposure diminished whereas consumption for two generations completely abolished the effect of paternal HFD exposure on metabolic traits and adipocytokine promoter epigenetic changes in the offspring. The effects of paternal HFD exposure on offspring were relatively weaker than those following HFD exposure in utero. However, paternal HFD exposure had an additive metabolic effect for two generations, suggesting that both paternal and maternal nutrition might affect offspring metabolism through epigenetic modifications of adipocytokine genes for multiple generations.

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

    Directory of Open Access Journals (Sweden)

    Mueller AA

    2014-10-01

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

  5. Vascular dysfunction induced in offspring by maternal dietary fat involves altered arterial polyunsaturated fatty acid biosynthesis.

    Directory of Open Access Journals (Sweden)

    Christopher J Kelsall

    Full Text Available Nutrition during development affects risk of future cardiovascular disease. Relatively little is known about whether the amount and type of fat in the maternal diet affect vascular function in the offspring. To investigate this, pregnant and lactating rats were fed either 7%(w/w or 21%(w/w fat enriched in either 18:2n-6, trans fatty acids, saturated fatty acids, or fish oil. Their offspring were fed 4%(w/w soybean oil from weaning until day 77. Type and amount of maternal dietary fat altered acetylcholine (ACh-mediated vaso-relaxation in offspring aortae and mesenteric arteries, contingent on sex. Amount, but not type, of maternal dietary fat altered phenylephrine (Pe-induced vasoconstriction in these arteries. Maternal 21% fat diet decreased 20:4n-6 concentration in offspring aortae. We investigated the role of Δ6 and Δ5 desaturases, showing that their inhibition in aortae and mesenteric arteries reduced vasoconstriction, but not vaso-relaxation, and the synthesis of specific pro-constriction eicosanoids. Removal of the aortic endothelium did not alter the effect of inhibition of Δ6 and Δ5 desaturases on Pe-mediated vasoconstriction. Thus arterial smooth muscle 20:4n-6 biosynthesis de novo appears to be important for Pe-mediated vasoconstriction. Next we studied genes encoding these desaturases, finding that maternal 21% fat reduced Fads2 mRNA expression and increased Fads1 in offspring aortae, indicating dysregulation of 20:4n-6 biosynthesis. Methylation at CpG -394 bp 5' to the Fads2 transcription start site predicted its expression. This locus was hypermethylated in offspring of dams fed 21% fat. Pe treatment of aortae for 10 minutes increased Fads2, but not Fads1, mRNA expression (76%; P<0.05. This suggests that Fads2 may be an immediate early gene in the response of aortae to Pe. Thus both amount and type of maternal dietary fat induce altered regulation of vascular tone in offspring though differential effects on vaso-relaxation, and

  6. Nasalance Scores of Children with Repaired Cleft Palate Who Exhibit Normal Velopharyngeal Closure during Aerodynamic Testing

    Science.gov (United States)

    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…

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

    Science.gov (United States)

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

    2015-01-01

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

  8. MSX1 in relation to clefting. hypodontia and hydrocephaly in humans

    NARCIS (Netherlands)

    Boogaard, M.J.H. van den

    2013-01-01

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

  9. Processing of Japanese Cleft Constructions in Context: Evidence from Event-Related Brain Potentials

    Science.gov (United States)

    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…

  10. CT findings in symptomatic Rathke's cleft cysts of the pituitary gland

    Energy Technology Data Exchange (ETDEWEB)

    Dietemann, J.L.; Wackenheim, A.; Bonneville, J.F.; Cattin, F.; Buchheit, F.; Heldt, N.

    1983-03-01

    Symptomatic intrasellar Rathke's cleft cysts are rather rare: only a few cases with CT findings have been reported. The authors describe the CT appearance of 3. Histological aspects and embryology are discussed. Rathke's cleft cysts have to be differentiated from other intersellar tumors: cystic craniopharyngiomas, cystic or necrotic pituitary adenomas, cysticercosis.

  11. Influence of the 20-week anomaly scan on prenatal diagnosis and management of fetal facial clefts

    NARCIS (Netherlands)

    Ensing, S.; Kleinrouweler, C. E.; Maas, S. M.; Bilardo, C. M.; Van der Horst, C. M. A. M.; Pajkrt, E.

    2014-01-01

    Objective To investigate trends in prenatal diagnosis and termination of pregnancy rates in cases of fetal cleft lip with or without cleft palate (CL +/- P), before and after the introduction in The Netherlands of the 20-week anomaly scan in 2007, and to assess the accuracy of this scan for the diag

  12. EVIDENCE FOR EGFR PATHWAY MEDIATION OF CLEFT PALATE INDUCTION BY TCDD

    Science.gov (United States)

    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. Dental findings in parents of children with cleft lip and palate.

    Science.gov (United States)

    Anderson, P J; Moss, A L

    1996-09-01

    The incidence of dental abnormalities in the cleft lip and palate population has been reported to be much higher than in the normal population. The role of genes in the production of a cleft lip and palate, and dental anomalies is thought to be complex, with autosomal dominant, recessive, and x-linked genes all playing a role. Noncleft parents can carry some of the cleft lip and palate genes, which produce clinically subtle manifestations in their facial skeleton. The purpose of this study was to look for evidence of increased dental anomalies in the non-cleft parents of cleft lip and palate children. The dentitions of the parents of 60 children with different types of cleft lip and palate were examined prospectively to see whether or not they exhibited features found more readily in the cleft lip and palate rather than did the normal population. Their dentitions were studied to record the following dental features: congenitally missing teeth, supernumerary teeth, or morphologic changes of the crowns of the permanent teeth. The number and position of any frenal attachments were also recorded. The results of this study did not show any differences in incidence of dental anomalies from the noncleft population. There was no evidence to support the hypothesis that congenital absence of lateral incisors is a microform of cleft lip and palate. Further, these results also failed to reveal any consistent pattern in the number and position of frenal attachments.

  14. Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A

    DEFF Research Database (Denmark)

    Boyles, Abee L; Wilcox, Allen J; Taylor, Jack A;

    2009-01-01

    An increased risk of facial clefts has been observed among mothers with lower intake of folic acid or vitamin A around conception. We hypothesized that the risk of clefts may be further moderated by genes involved in metabolizing folate or vitamin A. We included 425 case-parent triads in which th...

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

    Directory of Open Access Journals (Sweden)

    Pablo Antonio Ysunza

    2015-01-01

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

  16. Tobacco and alcohol use during pregnancy and risk of oral clefts

    NARCIS (Netherlands)

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

    2000-01-01

    Objectives. This study examined the relationship between maternal tobacco and alcohol consumption during the first trimester of pregnancy and oral clefts. Methods. Data were derived from a European multicenter case-control study including 161 infants with oral clefts and 1134 control infants. Result

  17. Segment distraction to reduce a wide alveolar cleft before alveolar bone grafting.

    NARCIS (Netherlands)

    Binger, T.; Katsaros, C.; Rucker, M.; Spitzer, W.J.

    2003-01-01

    OBJECTIVE: To demonstrate a method for reduction of wide alveolar clefts prior to bone grafting. This method aims to facilitate bone grafting and achieve adequate soft tissue coverage of the graft with attached gingiva. CASE REPORT: Treatment of a patient with bilateral cleft lip and palate with a s

  18. Perception of Place of Articulation by Children with Cleft Palate and Posterior Placement.

    Science.gov (United States)

    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.…

  19. Strategies to improve regeneration of the soft palate muscles after cleft palate repair

    NARCIS (Netherlands)

    Carvajal Monroy, P.L.; Grefte, S.; Kuijpers-Jagtman, A.M.; Wagener, F.A.D.T.G.; Hoff, J.W. Von den

    2012-01-01

    Children with a cleft in the soft palate have difficulties with speech, swallowing, and sucking. These patients are unable to separate the nasal from the oral cavity leading to air loss during speech. Although surgical repair ameliorates soft palate function by joining the clefted muscles of the sof

  20. A Respirometric Technique to Evaluate Velopharyngeal Function in Speakers with Cleft Palate, with and without Prostheses.

    Science.gov (United States)

    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)