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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 bereavement in the antenatal period and oral cleft in the offspring

    DEFF Research Database (Denmark)

    Ingstrup, K G; Liang, H; Olsen, Jørn;

    2013-01-01

    to the body of literature on stress and birth defects. Our study is in agreement with previously published results and can be generalized to similar populations like the native Danish population. Severe stress may be added to the list of potential causes for oral cleft.......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...... 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...

  4. 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

  5. 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

  6. What is the Risk of Having Offspring with Cleft Lip/Palate in Pre-Maternal Obese/Overweight Women When Compared to Pre-Maternal Normal Weight Women? A Systematic Review and Meta-Analysis

    Science.gov (United States)

    Izedonmwen, Omoroghogho Maria; Cunningham, Claudia

    2015-01-01

    ABSTRACT Objectives The purpose of the study was to identify the risk of orofacial cleft in the offspring of women with pre-maternal obesity/overweight when compared with pre-maternal normal weight women. Material and Methods MEDLINE and EMBASE were searched from 1980 to July 2014 for cohort, case control and cross sectional studies. BMI were categorized according to WHO recommendation: normal weight (BMI 18.5 - 24.9), overweight (BMI 25 - 29.9) and obese (BMI ≥ 30). Results Six studies were identified; three case control studies which were used for the meta-analysis and two cross sectional studies and one cohort study. Compared with women of recommended BMI, obese women were at increased odds of pregnancy affected by CLP (OR = 1.16; 95% CI 1, 1.34) and CP (OR = 1.14; 95% CI 0.95, 1.37). Overweight women were also at increased odds of pregnancy affected by CLP (OR = 1.06; 95% CI 0.93, 1.21) but not CP (OR = 0.89; 95% CI 0.75, 1.06). The results of the risk ratios reported in the cross sectional and cohort studies were similar to the results of the meta-analysis. Conclusions The results of this study reveal that there is an increased risk of having offspring with orofacial cleft in obese/overweight women. The reason for this association is not known. Although, the risk is small, it is important because of the increasing incidence of obesity. PMID:25937872

  7. 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...

  8. Does brood size manipulation affect later competitive behaviour of offspring?

    NARCIS (Netherlands)

    deKogel, CH

    1997-01-01

    Data from several field experiments support the existence of a trade-off between number and quality of offspring. However, long term effects of brood size on fitness related traits of offspring have been a relatively neglected area of research. In a laboratory experiment the effect of manipulated br

  9. Lack of association of polymorphic variants of genes encoding zinc transporters with the risk of orofacial cleft-affected pregnancies.

    Directory of Open Access Journals (Sweden)

    Margarita Lianeri

    2011-04-01

    Full Text Available Maternal zinc deficiency seems to be a risk factor for orofacial clefts in offspring. This study was undertaken to investigate the involvement of polymorphic variants of genes for zinc transporters in the susceptibility of clefting. PCRRFLP analysis was used to analyze single nucleotide polymorphisms of SLC30A1 (rs7526700, rs2278651, rs611386, SLC30A4 (rs2453531, rs8029246, SLC30A5 (rs351444, rs164393, rs6886492, SLC39A1 (rs10127484, rs11264736, and SLC39A3 (rs759071, rs4806874, rs10415622 in mothers of children with non-syndromic cleft lip with or without cleft palate (CL/P and control mothers. The allele, genotype, and haplotype distribution was found to be similar among case and control mothers. Also, the gene-by-gene interaction analysis conducted using the Multifactor Dimensionality Reduction approach revealed no significant interactive genetic effect on having a child with a cleft. In conclusion, our results demonstrated that the analyzed polymorphic variants of genes for zinc transporters are not implicated in abnormal palatogenesis in the investigated group of women from the Polish population.

  10. Lack of association of polymorphic variants of genes encoding zinc transporters with the risk of orofacial cleft-affected pregnancies

    Directory of Open Access Journals (Sweden)

    Margarita Lianeri

    2010-04-01

    Full Text Available Maternal zinc deficiency seems to be a risk factor for orofacial clefts in offspring. This study was undertaken toinvestigate the involvement of polymorphic variants of genes for zinc transporters in the susceptibility of clefting. PCRRFLPanalysis was used to analyze single nucleotide polymorphisms of SLC30A1 (rs7526700, rs2278651, rs611386,SLC30A4 (rs2453531, rs8029246, SLC30A5 (rs351444, rs164393, rs6886492, SLC39A1 (rs10127484, rs11264736, andSLC39A3 (rs759071, rs4806874, rs10415622 in mothers of children with non-syndromic cleft lip with or without cleftpalate (CL/P and control mothers. The allele, genotype, and haplotype distribution was found to be similar among case andcontrol mothers. Also, the gene-by-gene interaction analysis conducted using the Multifactor Dimensionality Reductionapproach revealed no significant interactive genetic effect on having a child with a cleft. In conclusion, our results demonstratedthat the analyzed polymorphic variants of genes for zinc transporters are not implicated in abnormal palatogenesisin the investigated group of women from the Polish population.

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

    OpenAIRE

    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 of parents with major depressive disorder, this study examined the effects of a second affected parent, offspring gender, gender of the depressed parent and their interactions on risk of depressio...

  12. 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.

  13. Periconceptional health and lifestyle factors of both parents affect the risk of live-born children with orofacial clefts

    NARCIS (Netherlands)

    Krapels, Ingrid P. C.; Zielhuis, Gerhard A.; Vroom, Fokaline; de Jong-van den Berg, Lolkje T. W.; Kuijpers-Jagtman, Anne-Marie; van der Molen, Aebele B. Mink; Steegers-Theunissen, Regine P. M.

    2006-01-01

    BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (CL/P) or cleft palate only (CPO) are orofacial clefts and have a multifactorial etiology. The identification of amendable parental risk factors may contribute to a reduced occurrence of these malformations in the future. METHODS: Stand

  14. New insights into parental effects and toxicity: Mate availability and diet in the parental environment affect offspring responses to contaminants

    International Nuclear Information System (INIS)

    Parental effects manifest as alterations in offspring phenotype resulting from the parental phenotype and/or parental environment. We evaluated the effects of parental diet quality and mating strategy on the toxicant tolerance of offspring in Biomphalaria glabrata snails. We raised snails either individually (self-fertilizing) or in groups of three (outcrossing) on a diet of uncooked lettuce, fish food, cooked lettuce, or cooked lettuce plus fish food. We then exposed their offspring to cadmium and malathion challenges. Cadmium tolerance varied with parental diet and was greater in the offspring of outcrossing snails than self-fertilizing snails. Malathion tolerance was not affected by parental diet but was greater in the offspring of outcrossing snails. These results indicate that offspring responses to stressors are heavily influenced by parental experience, but may depend on the specific stressor and the mechanism of action and/or detoxification. -- Highlights: •We reared parental snails either alone or in groups and fed them one of four diets. •We exposed their juvenile offspring to cadmium and malathion survival challenges. •Outcrossing increased toxicant tolerance of juveniles compared to self-fertilizing. •Parental diet affected juvenile offspring tolerance to cadmium but not malathion. •Toxicant characteristics likely influenced parental effects on toxicant tolerance. -- Both parental diet composition and mating strategy can significantly alter the toxicant tolerance of offspring, and toxicant characteristics likely influence the probability of parental effects

  15. Phenological mismatch and ontogenetic diet shifts interactively affect offspring condition in a passerine.

    Science.gov (United States)

    Samplonius, Jelmer M; Kappers, Elena F; Brands, Stef; Both, Christiaan

    2016-09-01

    Climate change may cause phenological asynchrony between trophic levels, which can lead to mismatched reproduction in animals. Although indirect effects of mismatch on fitness are well described, direct effects on parental prey choice are not. Moreover, direct effects of prey variation on offspring condition throughout their early development are understudied. Here, we used camera trap data collected over 2 years to study the effects of trophic mismatch and nestling age on prey choice in pied flycatchers (Ficedula hypoleuca). Furthermore, we studied the effect of mismatch and variation in nestling diet on offspring condition. Both experimentally induced and natural mismatches with the caterpillar peak negatively affected absolute and relative numbers of caterpillars and offspring condition (mass, tarsus and wing length) and positively affected absolute and relative numbers of flying insects in the nestling diet. Feeding more flying insects was negatively correlated with nestling day 12 mass. Both descriptive and experimental data showed preferential feeding of spiders when nestlings were spiders during this phase was positively correlated with tarsus growth. These results highlight the need for a more inclusive framework to study phenological mismatch in nature. The general focus on only one prey type, the rarity of studies that measure environmental abundance of prey, and the lack of timing experiments in dietary studies currently hamper understanding of the actual trophic interactions that affect fitness under climate change. PMID:27263989

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

    International Nuclear Information System (INIS)

    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

  17. 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.

  18. Social selection in human populations: fitness modification of offspring by an affected parent at two loci.

    OpenAIRE

    Yokoyama, S

    1983-01-01

    The effect of social reaction to a disease at one locus (the B locus) on the frequencies of deleterious genes at that locus and another locus (the A locus) has been studied. Social reaction is formulated so that affected parents at the B locus reduce or increase their offsprings' fitnesses. It has been shown that the genotype frequencies at the two loci depend strongly on the social reaction, but, because the magnitude of linkage disequilibrium is very small, the gene frequency at each locus ...

  19. 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.

  20. Residential agricultural pesticide exposures and risk of neural tube defects and orofacial clefts among offspring in the San Joaquin Valley of California.

    Science.gov (United States)

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

    2014-03-15

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

  1. 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.

  2. Cleft Lip and Cleft Palate

    Science.gov (United States)

    ... months of age. Your child may need more surgery for oral clefts as he grows. Your baby gets treated ... months of age. Your child may need more surgery for oral clefts as he grows. Your baby gets treated ...

  3. 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.)

  4. 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].

  5. Cleft rhinoplasty.

    Science.gov (United States)

    Baskaran, M; Packiaraj, I; Arularasan, S Gidean; Divakar, T K

    2015-08-01

    It is universally accepted that correction of cleft lip nose deformity remains a formidable challenge for any cleft surgeon. The nose is a prominent part of the face, and hence a masterly executed cleft lip repair directs the beholders' eyes from the deformed lip to the deformed nose. A deformed nose that results from unilateral cleft of the lip and palate is likened to a tent whose one side is depressed. Many investigators believe that the deformity of the nose is produced by the malpositioning of essentially normal structures, on the other hand some cleft surgeons contend that it is the intrinsic defects in nasal structures that result in cleft nasal deformity. Depressed and hypoplastic bony scaffolding is the most important aspect of cleft nose deformity and addressing this aspect of cleft nose deformity is the secret of success of a perfect secondary rhinoplasty. Controversy still exists on timing of cleft nasal deformity. Proponents of delayed nasal repair suggest that altering the cartilages in early nasal repair at the time of lip repair would complicate future corrective nasal surgeries if the primary repair would prove unsatisfactory. The correction of nasal deformity could be performed with closed or open technique. This paper highlights one such challenging unilateral cleft lip nasal deformity in a adult patient treated by secondary rhinoplasty by open technique. PMID:26538945

  6. 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.

  7. 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.

  8. Maternally administered sustained-release naltrexone in rats affects offspring neurochemistry and behaviour in adulthood.

    Directory of Open Access Journals (Sweden)

    Waleed O Farid

    Full Text Available Naltrexone is not recommended during pregnancy. However, sustained-release naltrexone implant use in humans has resulted in cases of inadvertent foetal exposure. Here, we used clinically relevant dosing to examine the effects of maternally administered sustained-release naltrexone on the rat brain by examining offspring at birth and in adulthood. Maternal treatment (naltrexone or placebo implant started before conception and ceased during gestation, birth or weaning. Morphometry was assessed in offspring at birth and adulthood. Adult offspring were evaluated for differences in locomotor behaviour (basal and morphine-induced, 10 mg/kg, s.c. and opioid neurochemistry, propensity to self-administer morphine and cue-induced drug-seeking after abstinence. Blood analysis confirmed offspring exposure to naltrexone during gestation, birth and weaning. Naltrexone exposure increased litter size and reduced offspring birth-weight but did not alter brain morphometry. Compared to placebo, basal motor activity of naltrexone-exposed adult offspring was lower, yet they showed enhanced development of psychomotor sensitization to morphine. Developmental naltrexone exposure was associated with resistance to morphine-induced down-regulation of striatal preproenkephalin mRNA expression in adulthood. Adult offspring also exhibited greater operant responding for morphine and, in addition, cue-induced drug-seeking was enhanced. Collectively, these data show pronounced effects of developmental naltrexone exposure, some of which persist into adulthood, highlighting the need for follow up of humans that were exposed to naltrexone in utero.

  9. 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

    2013-07-01

    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

  10. 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...

  11. 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.

  12. 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:

  13. 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.

  14. Maternal stress affects postnatal growth and the pituitary expression of prolactin in mouse offspring.

    Science.gov (United States)

    Gao, Pengfei; Ishige, Atsushi; Murakami, Yu; Nakata, Hideyuki; Oka, Jun-Ichiro; Munakata, Kaori; Yamamoto, Masahiro; Nishimura, Ko; Watanabe, Kenji

    2011-03-01

    Maternal stress exerts long-lasting psychiatric and somatic on offspring, which persist into adulthood. However, the effect of maternal stress on the postnatal growth of pups has not been widely reported. In this study, we found that maternal immobilization stress (IS) during lactation resulted in low body weight of male mouse offspring, which persisted after weaning. Despite free access to chow, IS induced maternal malnutrition and decreased the serum insulin-like growth factor-1 (IGF-1) levels in the mothers and in the pups. mRNA expression analysis of anterior pituitary hormones in the pups revealed that growth hormone (GH) and prolactin (PRL), but no other hormones, were decreased by IS. Expression of the pituitary transcription factor PIT1 and isoforms of PITX2, which are essential for the development and function of GH-producing somatotropes and PRL-producing lactotropes, was decreased, whereas that of PROP1, which is critical for the earlier stages of pituitary development, was unchanged. Immunohistochemistry also showed a decrease in pituitary PRL protein expression. These results suggest that stress in a postpartum mother has persistent effects on the body weight of the offspring. Reduced PRL expression in the offspring's pituitary gland may play a role in these effects.

  15. 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.

  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. 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.

  18. 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

  19. Implications of advancing paternal age: does it affect offspring school performance?

    Directory of Open Access Journals (Sweden)

    Anna C Svensson

    Full Text Available Average paternal age is increasing in many high income countries, but the implications of this demographic shift for child health and welfare are poorly understood. There is equivocal evidence that children of older fathers are at increased risk of neurodevelopmental disorders and reduced IQ. We therefore report here on the relationship between paternal age and a composite indicator of scholastic achievement during adolescence, i.e. compulsory school leaving grades, among recent birth cohorts in Stockholm County where delayed paternity is notably common. We performed a record-linkage study comprising all individuals in Stockholm County who finished 9 years of compulsory school from 2000 through 2007 (n = 155,875. Data on school leaving grades and parental characteristics were retrieved from administrative and health service registers and analyzed using multiple linear regression. Advancing paternal age at birth was not associated with a decrease in school leaving grades in adolescent offspring. After adjustment for year of graduation, maternal age and parental education, country of birth and parental mental health service use, offspring of fathers aged 50 years or older had on average 0.3 (95% CI -3.8, 4.4 points higher grades than those of fathers aged 30-34 years. In conclusion, advancing paternal age is not associated with poorer school performance in adolescence. Adverse effects of delayed paternity on offspring cognitive function, if any, may be counterbalanced by other potential advantages for children born to older fathers.

  20. Cleft Lip and Palate

    Science.gov (United States)

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

  1. Cleft palate - resources

    Science.gov (United States)

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

  2. Acute exposure to ethanol on gestational day 15 affects social motivation of female offspring

    OpenAIRE

    Varlinskaya, Elena I.; Mooney, Sandra M.

    2013-01-01

    Alterations in social behavior are a hallmark of many neurodevelopmental disorders in humans. In rodents, social behavior is affected by prenatal insults. The outcomes are dependent on the timing of the insult as well as the sex and age of the animal tested. The limbic system is particularly important for social behavior, and a peak of neurogenesis within this system occurs on gestational day (G)15. Neurons appear particularly vulnerable to ethanol insult around the time they become post-mito...

  3. 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. PMID:10885634

  4. Social selection in human populations. I. Modification of the fitness of offspring by an affected parent.

    OpenAIRE

    Yokoyama, S

    1981-01-01

    The concept of social selection for deleterious genes has been introduced by considering two alleles at one locus. A social selection model is constructed by assuming that the fitness of an individual is determined by his or her own as well as the parental phenotypes. It is shown that the equilibrium gene frequency depends on the loss of fitness of an individual due to the trait (gamma), due to affected parents (beta), and the probability that the heterozygote develops the trait (h). With mut...

  5. 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.

  6. 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

  7. Vertical transmission of Zika virus targeting the radial glial cells affects cortex development of offspring mice

    Science.gov (United States)

    Wu, Kong-Yan; Zuo, Guo-Long; Li, Xiao-Feng; Ye, Qing; Deng, Yong-Qiang; Huang, Xing-Yao; Cao, Wu-Chun; Qin, Cheng-Feng; Luo, Zhen-Ge

    2016-01-01

    The recent Zika virus (ZIKV) epidemic in Latin America coincided with a marked increase in microcephaly in newborns. However, the causal link between maternal ZIKV infection and malformation of the fetal brain has not been firmly established. Here we show a vertical transmission of ZIKV in mice and a marked effect on fetal brain development. We found that intraperitoneal (i.p.) injection of a contemporary ZIKV strain in pregnant mice led to the infection of radial glia cells (RGs) of dorsal ventricular zone of the fetuses, the primary neural progenitors responsible for cortex development, and caused a marked reduction of these cortex founder cells in the fetuses. Interestingly, the infected fetal mice exhibited a reduced cavity of lateral ventricles and a discernable decrease in surface areas of the cortex. This study thus supports the conclusion that vertically transmitted ZIKV affects fetal brain development and provides a valuable animal model for the evaluation of potential therapeutic or preventative strategies. PMID:27174054

  8. 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

    for 12 weeks were mated with chow-fed dams to generate F1 and F2 offspring. Motile spermatozoa were isolated from F0 and F1 breeders to determine DNA methylation and small non-coding RNA (sncRNA) expression pattern by deep sequencing. RESULTS: Newborn offspring of HFD-fed fathers had reduced body weight...... 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...

  9. 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.

  10. Cleft Palate Foundation

    Science.gov (United States)

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

  11. Maternal high-fat diet inversely affects insulin sensitivity in dams and young adult male rat offspring.

    Science.gov (United States)

    Karbaschi, Roxana; Sadeghimahalli, Forouzan; Zardooz, Homeira

    2016-09-01

    This study attempts to further clarify the potential effects of maternal high-fat (HF) diet on glucose homeostasis in dams and young adult male rat offspring. Female rats were divided into control (CON dams) and HF (HF dams) diet groups, which received the diet 4 weeks prior to and through pregnancy and lactation periods. Blood samples were taken to determine metabolic parameters, then an intraperitoneal glucose tolerance test (IPGTT) was performed. Maternal HF diet increased intra-abdominal fat mass and plasma corticosterone level, but decreased leptin concentration in dams. In HF offspring intra-abdominal fat mass, plasma leptin, and corticosterone levels decreased. Following IPGTT, the plasma insulin level of HF dams was higher than the controls. In HF offspring plasma insulin level was not significantly different from the controls, but a steeper decrease of their plasma glucose concentration was observed. PMID:27604865

  12. 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.

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

    Science.gov (United States)

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

    2016-01-01

    Background Individuals with non syndromic cleft lip with or without cleft palate (NSCL±P) present high frequency of dental anomalies, which may represent complicating factors for dental treatment. The aim of this study was to investigate the prevalence of dental anomalies inside cleft area in a group of Brazilians with NSCL±P. Material and Methods Retrospective analysis of 178 panoramic radiographs of patients aged from 12 to 45 years old and without history of tooth extraction or orthodontic treatment was performed. Association between cleft type and the prevalence of dental anomalies was assessed by chi-square test with a significance level set at p≤ 0.05. Results Dental anomalies were found in 88.2% (n=157) of the patients. Tooth agenesis (47.1%), giroversion (20%) and microdontia (15.5%) were the most common anomalies. Individuals with unilateral complete cleft lip and palate (CLP, p<0.0001), bilateral complete CLP (p=0.0002) and bilateral incomplete CLP (p< 0.0001) were more affected by tooth agenesis than individuals with other cleft types. The maxillary lateral incisors were the most affected teeth (p<0.0001). Conclusions The present study revealed a high frequency of dental anomalies inside cleft region in NSCL±P patients, and further demonstrated that patients with unilateral complete CLP and bilateral incomplete CLP were frequently more affected by dental anomalies. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning of individuals affected by NSCL±P. Key words:Nonsyndromic cleft lip with or without palate, dental anomaly, tooth agenesis, microdontia. PMID:26615505

  14. 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

  15. 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;…

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

    Science.gov (United States)

    In order to compare the behaviour of sows in stalls and group housing systems, and the physiological indices of their offspring, 28 sows were randomly distributed into 2 systems with 16 sows in stalls, and the other 12 sows were divided into 3 groups with 4 sows per pen. The area per sow in stalls a...

  17. Congenital orofacial clefts: Etiology and Frequency

    Directory of Open Access Journals (Sweden)

    Kamil Serkan Ağaçayak

    2014-06-01

    Full Text Available Orofacial clefts are congenital structural anomalies of the lip and/or palate. These anomalies affect ~1/1000 in the community. The etiology of orofacial clefts is complex, including various genetic and environmental agents. Syndrome is not accompanied by any isolated orofacial clefts are more common, although environmental factors often play a role in the etiology. Mendelian or teratogenic origins; the non-syndromic forms of orofacial clefts are more common and are likely due to secondary gene–environment interactions. Latest researches in both molecular and quantitative approaches have begun to identify the genes responsible for the rare syndromic forms of cleft and have also identified both candidate genes and loci for the more common and complex non-syndromic variants. Animal models, have also contributed greatly to an comprehension of these anomalies. We aimed to describes genes that are involved in orofacial clefts in humans and animal models and explores genetic approaches to identifying additional genes and gene–environment interactions that constitute the many factors of orofacial clefts in this review.

  18. 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

  19. Facts about Cleft Lip and Cleft Palate

    Science.gov (United States)

    ... children with orofacial clefts may have issues with self-esteem if they are concerned with visible differences between themselves and other children. Parent-to-parent support groups can prove to be ...

  20. Cleft lip and palate repair

    Science.gov (United States)

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

  1. A Calcium-Deficient Diet in Rat Dams during Gestation and Nursing Affects Hepatic 11β-hydroxysteroid dehydrogenase-1 Expression in the Offspring

    Science.gov (United States)

    Takaya, Junji; Yamanouchi, Sohsaku; Kaneko, Kazunari

    2014-01-01

    Background Prenatal malnutrition can affect the phenotype of offspring by changing epigenetic regulation of specific genes. Several lines of evidence demonstrate that calcium (Ca) plays an important role in the pathogenesis of insulin resistance syndrome. We hypothesized that pregnant female rats fed a Ca-deficient diet would have offspring with altered hepatic glucocorticoid-related gene expression and that lactation would modify these alterations. Methodology We determined the effects of Ca deficiency during pregnancy and/or lactation on hepatic 11β-hydroxysteroid dehydrogenase-1 (Hsd11b1) expression in offspring. Female Wistar rats consumed either a Ca-deficient (D: 0.008% Ca) or control (C: 0.90% Ca) diet ad libitum from 3 weeks preconception to 21 days postparturition. On postnatal day 1, pups were cross-fostered to the same or opposite dams and divided into the following four groups: CC, DD, CD, and DC (first letter: original mother's diet; second letter: nursing mother's diet). All offspring were fed a control diet beginning at weaning (day 21) and were killed on day 200±7. Serum insulin and adipokines in offspring were measured using ELISA kits. Principal Findings In males, mean levels of insulin, glucose, and Homeostasis Model Assessment of Insulin Resistance (HOMA-IR) were higher in the DD and DC groups than in the CC group. We found no difference in HOMA-IR between the CC and CD groups in either males or females. Expression of Hsd11b1 was lower in male DD rats than in CC rats. Hsd11b1 expression in male offspring nursed by cross-fostered dams was higher than that in those nursed by dams fed the same diet; CC vs. CD and DD vs. DC. In females, Hsd11b1 expression in DC rats was higher than that in CC rats. Conclusions These findings indicated that maternal Ca restriction during pregnancy and/or lactation alters postnatal growth, Hsd11b1 expression, and insulin resistance in a sex-specific manner. PMID:24427280

  2. Congenital Cleft Hand

    OpenAIRE

    Aritamur, Ayhan; Cakmak, Mehmet; Taser, Omer; Berk, Hasan

    2004-01-01

    Congenital cleft hand deformity, which is also known with such names as cleft hand, lobster claw hand and Ectrodactyiy, is characterized by the absence of one or two fingers in the mid portion of the hand. A case of bilateral cleft hand deformity four years old, which is considerabiy rare, was reconstructed surgically. The result obtained has been presented. Because no sufficient experience has accumulated due to the fact that it is observed considerably rare, the therapeutical principales re...

  3. Binge ethanol exposure in late gestation induces ethanol aversion in the dam but enhances ethanol intake in the offspring and affects their postnatal learning about ethanol

    OpenAIRE

    Chotro, M. Gabriela; Arias, Carlos; Norman E. Spear

    2009-01-01

    Previous studies show that exposure to 1 or 2 g/kg ethanol during the last days of gestation increases ethanol acceptance in infant rats. We tested whether prenatal exposure to 3 g/kg, a relatively high ethanol dose, generates an aversion to ethanol in both the dam and offspring, and whether this prenatal experience affects the expression of learning derived from ethanol exposure postnatally. The answer was uncertain, since postnatal administration of a 3 g/kg ethanol dose induces an aversion...

  4. 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

  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. 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.

  7. The concentration of plasma metabolites varies throughout reproduction and affects offspring number in wild brown trout (Salmo trutta).

    Science.gov (United States)

    Gauthey, Zoé; Freychet, Marine; Manicki, Aurélie; Herman, Alexandre; Lepais, Olivier; Panserat, Stéphane; Elosegi, Arturo; Tentelier, Cédric; Labonne, Jacques

    2015-06-01

    In wild populations, measuring energy invested in the reproduction and disentangling investment in gametes versus investment in reproductive behavior (such as intrasexual competition or intersexual preference) remain challenging. In this study, we investigated the energy expenditure in brown trout reproductive behavior by using two proxies: variation in weight and variation of plasma metabolites involved in energy production, over the course of reproductive season in a semi natural experimental river. We estimated overall reproductive success using genetic assignment at the end of the reproductive season. Results show that triglycerides and free fatty acid concentrations vary negatively during reproduction, while amino-acids and glucose concentrations remain stable. Decrease in triglyceride and free fatty acid concentrations during reproduction is not related to initial concentration levels or to weight variation. Both metabolite concentration variations and weight variations are correlated to the number of offspring produced, which could indicate that gametic and behavioral reproductive investments substantially contribute to reproductive success in wild brown trout. This study opens a path to further investigate variations in reproductive investment in wild populations. PMID:25666363

  8. 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.

  9. Genetics of Cleft Lip and Cleft Palate

    OpenAIRE

    Leslie, Elizabeth J.; Marazita, Mary L.

    2013-01-01

    Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with these birth defects and their family members: from subclinical phenotypes to associated syndromic features that is mirrored by the many genes that contribute to the etiology of these disorders. Identification of these genes and loci has been the result of decades of research using multiple genetic approaches. ...

  10. Skull thickness in patients with clefts

    DEFF Research Database (Denmark)

    Arntsen, T; Kjaer, I; Sonnesen, L;

    2010-01-01

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

  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. Clefting and psychosocial adjustment. Influence of facial aesthetics.

    Science.gov (United States)

    Tobiasen, J M; Hiebert, J M

    1993-10-01

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

  13. 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 fac...

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. Ankyloglossia with cleft lip: A rare case report

    OpenAIRE

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

    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...

  19. Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome.

    Science.gov (United States)

    Urban, M; Opitz, C; Bommer, C; Enders, H; Tinschert, S; Witkowski, R

    1998-09-23

    We report on a 13-year-old patient followed since birth. He is the only offspring of young, non-consanguineous German parents. His mother has an isolated left cleft of lip and a cleft palate. At birth, our patient presented with bilaterally cleft lip/cleft palate, phocomelia of upper limbs with normal hands, and mild symmetrical deficiencies of the long bones of the lower limbs. Haematological evaluation demonstrated a leukaemoid reaction during a urinary tract infection as well as intermittent thrombocytopenia and episodes of marked eosinophilia during the first two years of life. Intellectual development has been normal. Comparison with two similar cases from the literature suggests a non-random phenotypic overlap of Roberts syndrome (MIM 268300) and TAR syndrome (MIM 274000). Such clinical constellations may be key observations to understand the genetic relationship of Roberts syndrome and TAR syndrome in future phenotype-genotype correlations. PMID:9788553

  20. 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.

  1. Ankyloglossia with cleft lip: A rare case report

    Science.gov (United States)

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

    2015-01-01

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

  2. 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.

  3. 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.

  4. 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

    International Nuclear Information System (INIS)

    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)

  5. 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...

  6. 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...

  7. 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. PMID:26408077

  8. Maternal lipopolysaccharide treatment differentially affects 5-HT(2A) and mGlu2/3 receptor function in the adult male and female rat offspring.

    Science.gov (United States)

    Wischhof, Lena; Irrsack, Ellen; Dietz, Frank; Koch, Michael

    2015-10-01

    Maternal infection during pregnancy increases the risk for the offspring to develop schizophrenia. However, it is still not fully understood which biochemical mechanisms are responsible for the emergence of neuropsychiatric symptoms following prenatal immune activation. The serotonin (5-hydroxytryptamine, 5-HT) and glutamate system have prominently been associated with the schizophrenia pathophysiology but also with the mechanism of antipsychotic drug actions. Here, we investigated the behavioral and cellular response to 5-HT2A and metabotropic glutamate (mGlu)2/3 receptor stimulation in male and female offspring born to lipopolysaccharide (LPS)-treated mothers. Additionally, we assessed protein expression levels of prefrontal 5-HT2A and mGlu2 receptors. Prenatally LPS-exposed male and female offspring showed locomotor hyperactivity and increased head-twitch behavior in response to the 5-HT2A receptor agonist DOI. In LPS-exposed male offspring, the mGlu2/3 receptor agonist LY379268 failed to reduce DOI-induced prepulse inhibition deficits. In LPS-males, the behavioral changes were further accompanied by enhanced DOI-induced c-Fos protein expression and an up-regulation of prefrontal 5-HT2A receptors. No changes in either 5-HT2A or mGlu2 receptor protein levels were found in female offspring. Our data support the hypothesis of an involvement of maternal infection during pregnancy contributing, at least partially, to the pathology of schizophrenia. Identifying biochemical alterations that parallel the behavioral deficits may help to improve therapeutic strategies in the treatment of this mental illness. Since most studies in rodents almost exclusively include male subjects, our data further contribute to elucidating possible gender differences in the effects of prenatal infection on 5-HT2A and mGlu2/3 receptor function. PMID:26051401

  9. 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....

  10. 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.

  11. 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.

  12. 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…

  13. A Model Humanitarian Cleft Mission: 312 Cleft Surgeries in 7 Days

    Directory of Open Access Journals (Sweden)

    Ghulam Qadir Fayyaz, MBBS, DSS, MS

    2015-03-01

    Conclusion: A locoregional cleft team can be more effective to care for the patients with cleft in countries where surgical and other expertise can be utilized by proper organization of cleft missions on a national level.

  14. 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. PMID:1820390

  15. 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.

  16. 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.

  17. Surgical treatment of cleft lip

    OpenAIRE

    Mateus Domingues Miachon; Pedro Luiz Squilacci Leme

    2014-01-01

    We performed a systematic review of the literature on the surgical treatment of cleft lip, emphasizing the prevalence, complications associated with the treatment and the points of disagreement between authors. We conducted a literature cross-sectional search that analyzed publications in books, articles and on the databases SciELO - Scientific Electronic Library Online, PubMed, of the National Center for Biotechnology Information. We conclude that: 1) the severity of the cleft will indicate ...

  18. Bilateral cleft lip nasal deformity

    OpenAIRE

    Singh Arun; Nandini R.

    2009-01-01

    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 li...

  19. Prenatal prochloraz treatment significantly increases pregnancy length and reduces offspring weight but does not affect social-olfactory memory in rats

    DEFF Research Database (Denmark)

    Dmytriyeva, Oksana; Klementiev, Boris; Berezin, Vladimir;

    2013-01-01

    Metabolites of the commonly used imidazole fungicide prochloraz are androgen receptor antagonists. They have been shown to block androgen-driven development and compromise reproductive function. We tested the effect of prochloraz on cognitive behavior following exposure to this fungicide during...... the perinatal period. Pregnant Wistar rats were administered a 200mg/kg dose of prochloraz on gestational day (GD) 7, GD11, and GD15. The social recognition test (SRT) was performed on 7-week-old male rat offspring. We found an increase in pregnancy length and a significantly reduced pup weight on PND15 and PND...

  20. 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.

  1. 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.

  2. Pedunculated cavernous hemangioma originating in the olfactory cleft.

    Science.gov (United States)

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

    2014-09-01

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

  3. Primary repair of an incomplete unilateral cleft lip: avoiding an elongated lip and achieving a straight suture line.

    Science.gov (United States)

    Nakajima, T; Yoshimura, Y; Yoneda, K; Nakanishi, Y

    1998-10-01

    The methods designed for the repair of a complete cleft lip should not be used to repair an incomplete cleft lip. This results too often in the postoperative drooping of the white lip on the affected side because in most incomplete cleft lips there is more tissue on the cleft side than in complete cleft lip. We present and discuss the refinements we made in our original technique for complete cleft lip in order to adapt it to incomplete cleft lip repair. The skin design at the white skin roll follows Cronin's method with an incision perpendicular to the vermilion border. The suture that pulls the edges of the angular incisions together pushes on the white skin roll caudally. This ensures that the peak of the Cupid's bow on the cleft side does not droop postoperatively. It also ensures that it does not take on an acute angle and that the vermilion border will be a continuous line without a break. We do not create a triangular flap at the vermilion border, but we raise a triangular flap at the alar base on the cleft side and advance it to the bottom of the columella. This creates the nostril sill and corrects the flared alar base. The resulting suture line is completely straight and runs along the philtral column. In this way, the postoperative elongation of the white lip on the cleft side can be prevented.

  4. Cleft Lip – A Comprehensive Review

    OpenAIRE

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

    2013-01-01

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

  5. [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.

  6. Caries prevalence and enamel defects in 5- and 10-year-old children with cleft lip and/or palate

    DEFF Research Database (Denmark)

    Sundell, Anna Lena; Nilsson, Anna-Karin; Ullbro, Christer;

    2016-01-01

    OBJECTIVE: To determine the prevalence of dental caries and enamel defects in 5- and 10-year-old Swedish children with cleft lip and/or palate (CL(P)) in comparison to non-cleft controls. MATERIALS AND METHODS: The study group consisted of 139 children with CL(P) (80 subjects aged 5 years and 59...... prevalence of enamel defects was found in CL(P) children of both age groups and anterior permanent teeth were most commonly affected. CONCLUSIONS: Preschool children with cleft lip and/or palate seem to have more caries in the primary dentition than age-matched non-cleft controls. Enamel defects were more...

  7. 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.

  8. Surgical treatment of cleft lip

    Directory of Open Access Journals (Sweden)

    Mateus Domingues Miachon

    2014-06-01

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

  9. 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

  10. 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.

  11. 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.

  12. 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.

  13. 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.

  14. 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

  15. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

    OpenAIRE

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

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

    NARCIS (Netherlands)

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

    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

  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. Cues of maternal condition influence offspring selfishness.

    Science.gov (United States)

    Wong, Janine W Y; Lucas, Christophe; Kölliker, Mathias

    2014-01-01

    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. PMID:24498046

  19. 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.

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

    OpenAIRE

    Mansoor Khan; Hidayat Ullah; Shazia Naz; Tahmeed Ullah; Hafeezullah Khan; Muhammad Tahir; Obaid Ullah

    2012-01-01

    Objectives: To determine the frequency of different types of cleft lip and palate, geographical distribution and its association with consanguinity, family history and other syndromes in the Northern Pakistani population. Study design: Descriptive cross-sectional study. Settings: This study was performed in Plastic and Reconstructive units of Hayat Medical Complex Peshawar Pakistan, Aman Hospital Peshawar Pakistan and Abasin Hospital Peshawar, Pakistan from November 2010 to December 20...

  1. 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...

  2. 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...... with or without cleft palate and cleft palate. Interaction between mother's and father's age was included in the analysis. RESULTS: Separate analyses of mother's and father's age showed that older age was associated with increased risk of both cleft lip with or without cleft palate and cleft palate only....... 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...

  3. 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

  4. Primary unilateral cleft lip repair

    Directory of Open Access Journals (Sweden)

    Adenwalla H

    2009-10-01

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

  5. Cleft Lip and Palate Care in Nigeria

    OpenAIRE

    Adeyemi, Tokunbo Abigail

    2016-01-01

    BACKGROUND; The World Health Organisation has recommended the need to standardise cleft care globally. In Europe, the Eurocleft project was a concerted effort to improve on the standards of care for children with cleft lip and palate. Certain recommendations were made that were used to judge the standards of care offered, this eventually led to reorganization of services. Improving on standards of cleft care in Nigeria, would require a starting point, by determining what is currently being of...

  6. [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.

  7. 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

  8. 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

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

    Science.gov (United States)

    John, Joseph

    2015-01-01

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

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

    DEFF Research Database (Denmark)

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

    2010-01-01

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

  11. 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.

  12. Experimental evidence for offspring learning in parent-offspring communication.

    OpenAIRE

    Kedar, H; Rodríguez-Gironés, M A; Yedvab, S; Winkler, D.W.; Lotem, A

    2000-01-01

    The offspring of birds and mammals solicit food from their parents by a combination of movements and vocalizations that have come to be known collectively as 'begging'. Recently, begging has most often been viewed as an honest signal of offspring need. Yet, if offspring learn to adjust their begging efforts to the level that rewards them most, begging intensities may also reflect offsprings' past experience rather than their precise current needs. Here we show that bird nestlings with equal l...

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

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  14. Cleft Lip and Palate (For Parents)

    Science.gov (United States)

    ... with your doctor about the treatment plan. Surgical Treatment A cleft lip is usually surgically repaired in the hospital using general anesthesia when a child is 3 to 6 months old. If the cleft lip is wide, special procedures like lip adhesion or a molding plate device might help bring ...

  15. Maternal occupational risk factors for oral clefts

    NARCIS (Netherlands)

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

    2000-01-01

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

  16. Vitamin A and clefting: putative biological mechanisms

    NARCIS (Netherlands)

    Ackermans, M.M.; Zhou, J.H.; Carels, C.E.L.; Wagener, F.A.D.T.G.; Hoff, J.W. Von den

    2011-01-01

    Nutritional factors such as vitamin intake contribute to the etiology of cleft palate. Vitamin A is a regulator of embryonic development. Excess vitamin A can cause congenital malformations such as spina bifida and cleft palate. Therefore, preventive nutritional strategies are required. This review

  17. 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.

  18. Parental psychiatric hospitalisation and offspring schizophrenia

    DEFF Research Database (Denmark)

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

    2009-01-01

    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...... of schizophrenia was associated with maternal schizophrenia (OR = 15.41 with 95% CI 5.96-39.81) and, independently, with paternal hospitalisation with neurosis (OR = 5.90 with 95% CI 2.23-15.62). The risk of schizophrenia associated with paternal neurosis remained significant after excluding offspring of parents...

  19. Subphenotyping and Classification of Orofacial Clefts: Need for Orofacial Cleft Subphenotyping Calls for Revised Classification.

    Science.gov (United States)

    McBride, W A; McIntyre, G T; Carroll, K; Mossey, P A

    2016-09-01

    Nonsyndromic orofacial clefting (OFC) describes a range of phenotypes that represent the most common craniofacial birth defects in humans, with an overall birth prevalence of 1:700 live births. Because of the lifelong negative implications on health and well-being associated with OFC and the numbers of people affected, quality research into its etiology, diagnosis, treatment outcomes, and preventative strategies is essential. A range of different methods is used for recording and classifying OFC subphenotypes, one of which is the International Classification of Diseases (ICD) system. However, there is a general perception that research is being hampered by a lack of sensitivity and specificity in grouping those with OFC into subphenotypes, with potential heterogeneity and confounding in epidemiologic, genetic, and genotype-phenotype correlation studies. This article provides a background to the necessity of OFC research, discusses current controversies within cleft subphenotyping, and provides a brief overview of current OFC classifications as well as their limitations. The LAHSHAL classification is described in the context of a potentially useful tool for OFC that could complement the ICD-10/ICD-11 Beta coding systems to become a simply understood, universally accepted, clinically friendly, and research-sensitive instrument. Empowering registries, clinicians, and researchers to use a common classification system would have significant implications for OFC research across the world at a time when accurate subphenotyping is crucial and health care research is becoming increasingly tailored toward the individual. PMID:26171570

  20. 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.

  1. Oral Clefts and Academic Performance in Adolescence

    DEFF Research Database (Denmark)

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

    2016-01-01

    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.......-grade exam unavailable." Data adjusted for sex, birth weight, parental age, and parental level of education. RESULTS:   Compared to controls, children with CL achieved higher scores (mean difference 0.12, 95% CI -0.05; 0.29) and children with CLP presented with lower scores (mean difference -0.06, 95% CI -0...

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

    OpenAIRE

    Debangshu Ghosh; Somnath Saha; Sumit Kumar Basu

    2015-01-01

    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, mil...

  3. International Task Force on Volunteer Cleft Missions.

    Science.gov (United States)

    Yeow, Vincent K L; Lee, Seng-Teik T; Lambrecht, Thomas J; Barnett, John; Gorney, Mark; Hardjowasito, Widanto; Lemperle, Gottfried; McComb, Harold; Natsume, Nagato; Stranc, Mirek; Wilson, Libby

    2002-01-01

    The International Task Force on Volunteer Cleft Missions was set up to provide a report to be presented at the Eighth International Congress of Cleft Palate and Associated Craniofacial Anomalies on September 12, 1997, in Singapore. The aim of the report was to provide data from a wide range of different international teams performing volunteer cleft missions and, thereafter, based on the collected data, to identify common goals and aims of such missions. Thirteen different groups actively participating in volunteer cleft missions worldwide were selected from the International Confederation of Plastic and Reconstructive Surgery's list of teams actively participating in volunteer cleft missions. Because of the time frame within which the committee had to work, three groups that did not respond by the stipulated deadline were omitted from the committee. The represented members and their respective institutions have undertaken more than 50 volunteer cleft missions to underdeveloped nations worldwide within the last 3 years. They have visited over 20 different countries, treating more than 3,500 patients worldwide. Based on the data collected and by consensus, the committee outlined recommendations for future volunteer cleft missions based on 1) mission objectives, 2) organization, 3) personal health and liability, 4) funding, 5) trainees in volunteer cleft missions, and 6) public relations. The task force believed that all volunteer cleft missions should have well-defined objectives, preferably with long-term plans. The task force also decided that it was impossible to achieve a successful mission without good organization and close coordination. All efforts should be made, and care taken, to ensure that there is minimal morbidity and no mortality. Finally, as ambassadors of goodwill and humanitarian aid, the participants must make every effort to understand and respect local customs and protocol. The main aims are to provide top-quality surgical service, train local

  4. 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.

  5. 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-invariant ......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...... clefts use more health services than their unaffected siblings. Additional results show that the effects are driven primarily by congenital malformation-related hospitalizations and intake of anti-infectives. Although the absolute differences in most health care utilization diminish over time, affected...... individuals have slightly higher utilization of some health care services in adulthood (particularly for diseases of the nervous and respiratory system). These results have important implications for affected individuals, their families, and their health professionals....

  6. 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...

  7. Strong association of variants around FOXE1 and orofacial clefting

    NARCIS (Netherlands)

    Ludwig, K.U.; Bohmer, A.C.; Rubini, M.; Mossey, P.A.; Herms, S.; Nowak, S.; Reutter, H.; Alblas, M.A.; Lippke, B.; Barth, S.; Paredes-Zenteno, M.; Munoz-Jimenez, S.G.; Ortiz-Lopez, R.; Kreusch, T.; Hemprich, A.; Martini, M.; Braumann, B.; Jager, A.; Potzsch, B.; Molloy, A.; Peterlin, B.; Hoffmann, P.; Nothen, M.M.; Rojas-Martinez, A.; Knapp, M.; Steegers-Theunissen, R.P.M.; Mangold, E.

    2014-01-01

    Nonsyndromic orofacial clefting (nsOFC) is a common, complex congenital disorder. The most frequent forms are nonsyndromic cleft lip with or without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO). Although they are generally considered distinct entities, a recent study has implicat

  8. Maternal exposure to fluoxetine during gestation and lactation affects the DNA methylation programming of rat's offspring: modulation by folic acid supplementation.

    Science.gov (United States)

    Toffoli, L V; Rodrigues, G M; Oliveira, J F; Silva, A S; Moreira, E G; Pelosi, G G; Gomes, M V

    2014-05-15

    Fluoxetine is an antidepressant that has been largely used for treatment of depression in pregnancy. In the present study we evaluated the effects of the exposure to fluoxetine during gestation and lactation on DNA methylation of rat brain regions. Female Wistar rats were treated with 5mg/kg of fluoxetine during pregnancy and lactation. In order to assess the effects of fluoxetine in the context of maternal folic acid supplementation we performed an additional combined treatment composed by folic acid (8 mg/kg/day) and fluoxetine (5 mg/kg/day). On the postnatal day 22, male rats were euthanized and hippocampus, cortex, hypothalamus, and periaqueductal gray area were removed. Global DNA methylation was quantified using a high-throughput ELISA-based method. Neurofunctional changes were addressed using validated behavioral tests: hot plate, elevated plus maze and open field. A decrease in the global DNA methylation profile of hippocampus was associated to the exposure to fluoxetine, whereas an increase in methylation was observed in cortex. The combined treatment induced an increase in the methylation of hippocampus indicating the potential of folic acid to modulate this epigenetic alteration. Increase in the latency to the thermal nociceptive response was observed in animals exposed to fluoxetine whereas this effect was abolished in animals from the combined treatment. In summary we demonstrated that exposure to fluoxetine during gestation and lactation affect the DNA methylation of brain and the nociceptive response of rats. Furthermore our data reveal the potential of folic acid to modulate epigenetic and functional changes induced by early exposure to fluoxetine. PMID:24583191

  9. Aspiration pneumonia in patients with cleft palate

    International Nuclear Information System (INIS)

    To assess the incidence of aspiration pneumonia in infants with cleft palate and to compare the incidence between complete and incomplete types of cleft palate. A review of medical records revealed 100 infants who had undergone initial surgery to repair cleft palate in our hospital during a recent three-year period. Aspiration pneumonia was defined as the coexistence of pneumonia at chest radiography with a history of frequent choking during feeding. The anatomic distribution of aspiration pneumonia was analyzed, and the incidences of aspiration pneumonia in infants with complete and incomplete cleft palate were compared. Among 100 children, aspiration pneumonia was found in 35 (35%). Those with complete and incomplete cleft palate showed similar incidences of the condition (27 of 70 [39%] vs 8 of 30 [27%], p=0.36). Pneumonia was most commonly seen in the left lower lobe (11 of 35), followed by the right upper and lower lobes. Aspiration pneumonia is frequently associated with infants with cleft palate. There is no statistical difference in the incidence of aspiration pneumonia between the complete and the incomplete cleft palate group

  10. Implementing the Brazilian Database on Orofacial Clefts

    Directory of Open Access Journals (Sweden)

    Isabella Lopes Monlleó

    2013-01-01

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

  11. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

    Science.gov (United States)

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts. PMID:25737931

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

    OpenAIRE

    Lovya George; Sunil K Jain

    2015-01-01

    Preterm infants (PIs) often require respiratory support due to surfactant deficiency. Early weaning from mechanical ventilation to noninvasive respiratory support decreases ventilation-associated irreversible lung damage. This wean is particularly challenging in PIs with cleft lip and cleft palate due to anatomical difficulties encountered in maintaining an adequate seal for positive pressure ventilation. PI with a cleft lip and palate often fail noninvasive respiratory support and require co...

  13. Complex life cycles and offspring provisioning in marine invertebrates.

    Science.gov (United States)

    Marshall, Dustin J; Keough, Michael J

    2006-10-01

    Offspring size can have pervasive effects throughout an organism's life history. Mothers can make either a few large or many small offspring, and the balance between these extremes is determined by the relationship between offspring size and performance. This relationship in turn is thought to be determined by the offspring's environment. Recently, it has become clear that events in one life-history stage can strongly affect performance in another. Given these strong carryover effects, we asked whether events in the larval phase can change the relationship between offspring size and performance in the adult phase. We manipulated the length of the larval period in the bryozoan Bugula neritina and then examined the relationship between offspring size and various parameters of adult performance under field conditions. We found that despite the adult stage being outplanted into identical conditions, different offspring sizes were predicted to be optimal, depending on the experience of those adults as larvae. This work highlights the fact that the strong phenotypic links between life-history stages may result in optimal offspring size being highly unpredictable for organisms with complex life cycles. PMID:21672775

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

    Science.gov (United States)

    George, Lovya; Jain, Sunil K.

    2015-01-01

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

  15. 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.

  16. Use of Biphasic Continuous Positive Airway Pressure in Premature Infant with Cleft Lip-Cleft Palate.

    Science.gov (United States)

    George, Lovya; Jain, Sunil K

    2015-10-01

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

  17. Congenital hypothyroidism, spiky hair, and cleft palate.

    OpenAIRE

    Bamforth, J S; Hughes, I A; Lazarus, J. H.; Weaver, C. M.; P.S. Harper

    1989-01-01

    Two brothers are described with athyroidal hypothyroidism, spiky hair, choanal atresia, cleft palate, and bifid epiglottis. Polyhydramnios was present in the third trimester of each pregnancy. These abnormalities appear to represent a new syndrome.

  18. Current concepts in genetics of nonsyndromic clefts

    Directory of Open Access Journals (Sweden)

    Murthy Jyotsna

    2009-01-01

    Full Text Available Nonsyndromic cleft lip and palate is a complex genetic disorder with variable phenotype, largely attributed to the interactions of the environment and multiple genes, each potentially having certain effects. Numerous genes have been reported in studies demonstrating associations and/or linkage of the cleft lip and palate phenotypes to alleles of microsatellite markers and single nucleotide polymorphisms within specific genes that regulate transcription factors, growth factors, cell signalling and detoxification metabolisms. Although the studies reporting these observations are compelling, most of them lack statistical power. This review compiles the evidence that supports linkage and associations to the various genetic loci and candidate genes. Whereas significant progress has been made in the field of cleft lip and palate genetics in the past decade, the role of the genes and genetic variations within the numerous candidate genes that have been found to associate with the expression of the orofacial cleft phenotype remain to be determined.

  19. Technique in Cleft Rhinoplasty: The Foundation Graft.

    Science.gov (United States)

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

    2016-04-01

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

  20. [Laser navigation guided cleft lip repair].

    Science.gov (United States)

    Bing, Shi

    2016-06-01

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

  1. 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.

  2. 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.

  3. 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.

  4. Affectivity

    OpenAIRE

    Stenner, Paul; Greco, Monica

    2013-01-01

    The concept of affectivity has assumed central importance in much recent scholarship, and many in the social sciences and humanities now talk of an ‘affective turn’. The concept of affectivity at play in this ‘turn’ remains, however, somewhat vague and slippery. Starting with Silvan Tomkins’ influential theory of affect, this paper will explore the relevance of the general assumptions (or ‘utmost abstractions’) that inform thinking about affectivity. The technological and instrumentalist char...

  5. Non-syndromic cleft lip and palate: could stress be a causal factor?

    Science.gov (United States)

    Wallace, Graeme H; Arellano, Jacinta M; Gruner, Tini M

    2011-03-01

    The aetiology of non-syndromic cleft lip and palate has as yet not been clearly defined. Familial relationships, environmental toxins and nutritional status have all been considered without conclusive results, although in some studies a potential link between non-syndromic cleft lip and palate and any one or more of these factors has been proposed. Elevated stress, particularly an extended term of traumatic stress, can lead to oxidative damage at the cellular level via hypothalamus-pituitary-adrenal (HPA) axis dysregulation, high cortisol and cytokine production. The effect of this hormonal shift is to re-direct the blood supply to the mother's muscles, thereby reducing the supply to the placenta, causing a potential nutritional deficiency which may then result in a genetic alteration in the foetus. Mothers with a child aged two years or younger who had been born with a cleft, who were members of CleftPals, a family support group, volunteered to be participants in this qualitative study. The research first called for a survey to be completed by the mother and this was then followed by an interview conducted by the researcher. The study involved families living in the three eastern States of Australia. The results suggest that physical and/or emotional stress may well be implicated in clefting. While little work has been done in considering stress as a causal factor, the existing literature suggests, as does this study, that elevated stress levels at, or soon after, conception appear to affect foetal development. PMID:20832377

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

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  7. 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

  8. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

    Science.gov (United States)

    Giannotti, A; Digilio, M C; Mingarelli, R; Dallapiccola, B

    1995-01-01

    We report a brother and sister affected by a constellation of malformations, including cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A similar association has been reported previously by Richieri-Costa and Orquizas in a male patient born to consanguineous parents. An autosomal recessive pattern of inheritance is proposed for this syndrome. Images PMID:7897634

  9. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

    OpenAIRE

    Giannotti, A; Digilio, M C; Mingarelli, R; Dallapiccola, B.

    1995-01-01

    We report a brother and sister affected by a constellation of malformations, including cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A similar association has been reported previously by Richieri-Costa and Orquizas in a male patient born to consanguineous parents. An autosomal recessive pattern of inheritance is proposed for this syndrome.

  10. 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...

  11. 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.

  12. Concomitant pituitary adenoma and Rathke's cleft cyst

    International Nuclear Information System (INIS)

    We reviewed the clinical, radiological and surgical findings in patients with both pituitary adenoma and Rathke's cleft cyst. We retrospectively selected patients with both lesions from the 374 patients in whom a sellar/juxtasellar lesion was detected on MRI at 1.5 tesla. All patients received intravenous contrast medium. Concomitant pituitary adenoma and Rathke's cleft cyst were found in eight patients (2.1 %). The frequency of the combination was 3.5 % of pituitary adenomas and 11 % of Rathke's cleft cysts. Symptoms were always due to the adenoma, secreting adrenocorticotrophin in two patients and growth hormone in six. The adenoma was larger in five patients, and the cyst in three. The cysts gave variable signal. The adenoma was adjacent to the cyst in seven patients, and enclosed it in the other patient. As a result of experience with MRI, concomitant pituitary adenoma and Rathke's cleft cyst are now known not to be as rare as thought previously. When a nonenhancing cyst-like structure is demonstrated in a patient with pituitary adenoma, the possibility of a coexisting Rathke's cleft cyst should be considered. (orig.)

  13. Offspring consume a more obesogenic diet than mothers in response to changing socioeconomic status and urbanization in Cebu, Philippines

    OpenAIRE

    Adair Linda; Kelles Anna

    2009-01-01

    Abstract Background Overweight increased among Filipino mothers and offspring from 1994 to 2005 however, a higher rate of increase among mothers resulted in a prevalence 4 times higher than that among offspring in 2005. Our aim was to explore the differential effects of changing income, assets, maternal education, and urbanicity on dietary behaviors of mothers and offspring that may affect overweight risk. Methods The study included a cohort of Filipino offspring and their mothers participati...

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

    OpenAIRE

    Reema Sharma Dhar; Amitava Bora

    2014-01-01

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

  15. 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

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

    Science.gov (United States)

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

    2015-01-01

    Optic disc pit (ODP) is small, gray-white, oval depression found at the optic nerve head. It is a congenital defect that occurs due to imperfect closure of superior edge of the embryonic fissure. Cleft lip and palate are also congenital midline abnormalities occurring due to defect in the fusion of frontonasal prominence, maxillary prominence and mandibular prominence. There is only one case report describing the occurrence of ODP in a young patient with cleft lip and palate who also had basal encephalocele. We describe a 52-year-old patient with congenital cleft lip and palate with bilateral ODP with maculopathy but without any other midline abnormality. PMID:26044478

  17. 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...

  18. 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...

  19. 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

  20. Cleft lip and palate and related factors: A 10 years study in university hospitalised patients at Mashhad — Iran

    Science.gov (United States)

    Noorollahian, Morteza; Nematy, Mohsen; Dolatian, Atiyeh; Ghesmati, Hengameh; Akhlaghi, Saeed; Khademi, Gholam Reza

    2015-01-01

    Background: Oral-facial clefts including cleft lip and palate are the most common congenital malformations of the head and neck. Environmental factors such as maternal hormonal disorders, use of psychiatric medications, vitamin and folic acid deficiency, hypoxia, cigarette smoking and maternal obesity and overweight can affect the incidence of these disorders. In Iran, one of the associated problems is a lack of accurate statistics regarding the present status of the patients, which can cause a disturbance in the health programmes of Ministry of Health and Medical Education. The aim of this study was to report the status of 398 cases of cleft lip and palate in Sheikh and Imam Reza Hospitals of Mashhad over a 10-year period. Materials and Methods: This retrospective descriptive study was performed using data collection method and included the evaluation of the recorded files and completing the data forms. In this study, the file records of 398 patients referring to Mashhad Sheikh and Imam Reza (P.U.H) Hospitals were studied, from the beginning of 2002 to the end of 2011; the obtained data from the files were collected and classified. Results: The highest frequency was related to cleft palate alone (40.7%); frequencies were lower regarding the cleft lip and palate and cleft lip alone (34.41% and 24.87%, respectively). Approximately, half of the patients were from rural areas of the city and had articulation disorders. Most of the patients were the first-born children of the family and their parents were consanguineously married; about one-third of the patients had a family history of the disease. Conclusion: According to the results of the present study, cleft lip is more frequent in males and cleft palate is more prevalent in females; the obtained results are consistent with the global statistics. PMID:26712297

  1. Cleft lip and palate and related factors: A 10 years study in university hospitalised patients at Mashhad - Iran

    Directory of Open Access Journals (Sweden)

    Morteza Noorollahian

    2015-01-01

    Full Text Available Background: Oral-facial clefts including cleft lip and palate are the most common congenital malformations of the head and neck. Environmental factors such as maternal hormonal disorders, use of psychiatric medications, vitamin and folic acid deficiency, hypoxia, cigarette smoking and maternal obesity and overweight can affect the incidence of these disorders. In Iran, one of the associated problems is a lack of accurate statistics regarding the present status of the patients, which can cause a disturbance in the health programmes of Ministry of Health and Medical Education. The aim of this study was to report the status of 398 cases of cleft lip and palate in Sheikh and Imam Reza Hospitals of Mashhad over a 10-year period. Materials and Methods: This retrospective descriptive study was performed using data collection method and included the evaluation of the recorded files and completing the data forms. In this study, the file records of 398 patients referring to Mashhad Sheikh and Imam Reza (P.U.H Hospitals were studied, from the beginning of 2002 to the end of 2011; the obtained data from the files were collected and classified. Results: The highest frequency was related to cleft palate alone (40.7%; frequencies were lower regarding the cleft lip and palate and cleft lip alone (34.41% and 24.87%, respectively. Approximately, half of the patients were from rural areas of the city and had articulation disorders. Most of the patients were the first-born children of the family and their parents were consanguineously married; about one-third of the patients had a family history of the disease. Conclusion: According to the results of the present study, cleft lip is more frequent in males and cleft palate is more prevalent in females; the obtained results are consistent with the global statistics.

  2. 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

  3. Reduced folate carrier 1 (RFC1 is associated with cleft of the lip only

    Directory of Open Access Journals (Sweden)

    A.R. Vieira

    2008-08-01

    Full Text Available In this report, we have reanalyzed genotyping data in a collection of families from South America based on maternal origin. Genotyping analysis was performed at the Craniofacial Anomalies Research Center at the University of Iowa. These genotypes were derived from genomic DNA samples obtained from blood spots from children born with isolated orofacial clefts in 45 hospitals located in eight countries (Argentina, Bolivia, Brazil, Chile, Ecuador, Paraguay, Uruguay, and Venezuela collaborating with ECLAMC (Latin American Collaborative Studies of Congenital Malformations between January 1998 and December 1999. Dried blood samples were sent by regular mail to the Laboratory of Congenital Malformations, Federal University of Rio de Janeiro. Previous findings suggested that mitochondrial haplotype D is more commonly found among cleft cases born in South America. We hypothesized that association of certain genes may depend upon the ethnic origin, as defined by population-specific markers. Therefore, we tested if markers in MTHFR (5,10-methylenetetrahydrofolate reductase and RFC1 (reduced folate carrier 1 were associated with oral clefts, depending on the maternal origin defined by the mitochondrial haplotype. Transmission distortion of alleles in MTHFR C677T and RFC1 G80A polymorphic variants was tested in 200 mother/affected child pairs taking into consideration maternal origin. RFC1 variation was over-transmitted to children born with cleft lip only (P = 0.017 carrying mitochondrial DNA haplotypes other than haplotype D. Our results provide a new indication that variation in RFC1 may contribute to cleft lip only. Future studies should investigate the association between oral clefts and RFC1 based on more discrete phenotypes.

  4. COMPARATIVE STUDY OF DERMATOGLYPHIC FINGERTIP PATTERNS AND ‘ atd ’ ANGLE IN PATIENTS OF CLEFT LIP WITH OR WITHOUT CLEFT PALATE AND ISOLATED CLEFT PALATE WITH NORMAL POPULATION

    Directory of Open Access Journals (Sweden)

    Siraz M.

    2015-08-01

    Full Text Available Dermatoglyphics is the scientific study of epidermal ridges and their configurations on the volar aspect of palmar and plantar region. The main etiological factor of cleft lip and cleft palate is genetic in nature. The influences of genetic and environmental factors on early development are often reflected by the altered dermatoglyphics. AIMS & OBJECTIVES : To study the fingertip dermatoglyphic patterns in cleft lip and cleft palate patients. To compare the derm - atoglyphic ‘atd’ angle of cleft lip and cleft palate patients with normal population. MATERIAL & METHODS : The present study is a case control study carried out from Dec 2004 to Nov 2006. 86 cases of cleft lip with or without cleft palate and isolated cleft palate attending OPD of Govt. Medical College & Hospital, Miraj, Civil Hospital, Sangli, Aditya Burn and Plastic Surgery Hospital, Sangli and 100 controls with age and sex matched during the study period were included in study. The cases and controls divided in three groups : A ( C left lip with or without cleft palate ; B ( I solated cleft palate and C (Controls. In this study, ‘STANDARD INK METHOD’ for obtaining the dermatoglyphic prints described by Cummins (1936 and Cummins and Midlo (1961 was used. The parameters studied among different groups were sex wise distribution, hereditary basis, analysis of Fingertip Patterns and analysis of dermatoglyphic ‘atd’ angle. Appropriate statistical tests were applied like Mean, Standard Deviation (S.D., standard Error (S.E., Unpaired ‘t’ test of significance, for quantitative data, Chi - square’ test for qualitative data and ‘P’ value. OBSERVATIONS & RESULTS : Out of 82 Patients, 50 Patients are having cleft lip with or without cleft palate defect, while 32 patients are having isolated cleft palate defect with female dominance. The difference observed in percentage distribution of whorls and arches was statically significant in group A and C. The percentage

  5. 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.

  6. 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 death of the offspring. Adjusted relative rates (ARRs) were generated by generalized estimating equation models and adjusted for confounding factors. SETTING Manitoba, Canada. PARTICIPANTS All identifiable parents who had an offspring die by suicide between 1996 and 2007 (n = 1415). MAIN...

  7. 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.

  8. 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...

  9. 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 p......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...

  10. 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.

  11. Dating brittle tectonic movements with cleft monazite

    DEFF Research Database (Denmark)

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

    2013-01-01

    Two millimeter-sized hydrothermal monazites from a cleft that developed late during a dextral transpressional deformation event in the Aar Massif, Switzerland, have been investigated using EMP and ion probe. The monazites are characterised by high Th/U ratios typical of other hydrothermal monazit...

  12. 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

  13. 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.

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

    International Nuclear Information System (INIS)

    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.

  15. 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.

  16. Oblique facial clefts in Johanson-Blizzard syndrome.

    Science.gov (United States)

    Corona-Rivera, Jorge Román; Zapata-Aldana, Eugenio; Bobadilla-Morales, Lucina; Corona-Rivera, Alfredo; Peña-Padilla, Christian; Solis-Hernández, Elizabeth; Guzmán, Celina; Richmond, Erick; Zahl, Christian; Zenker, Martin; Sukalo, Maja

    2016-06-01

    Johanson-Blizzard syndrome (JBS) is considered as an infrequent, but clinically easily recognizable autosomal recessive entity by the pathognomonic combination of congenital exocrine pancreatic insufficiency and hypoplastic alae nasi, in addition to other distinctive findings such as scalp defects, hypothyroidism, and rectourogenital malformations. There are few reports of patients with JBS in association with facial clefting, referring all to types 2 to 6 of Tessier's classification that can be characterized properly as oblique facial clefts (OFCs). We describe the clinical aspects in four patients with JBS and extensive OFCs. In all of them, the diagnosis of JBS was confirmed by the demonstration of homozygous or compound-heterozygous mutations in the UBR1 gene. Additionally, we review three previously reported cases of JBS with OFCs. Taking into account a number of approximately 100 individuals affected by JBS that have been published in the literature we estimate that the frequency of OFCs in JBS is between 5% and 10%. This report emphasizes that extensive OFCs may be the severe end of the spectrum of facial malformations occurring in JBS. No obvious genotype phenotype correlation could be identified within this cohort. Thus, UBR1 should be included within the list of contributory genes of OFCs, although the exact mechanism remains unknown. © 2016 Wiley Periodicals, Inc. PMID:26989884

  17. 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. PMID:25382781

  18. 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. PMID:26655010

  19. 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.

  20. 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…

  1. 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

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

    Science.gov (United States)

    Marius-Nunez, A L; Wasiak, D T

    2015-10-01

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

  3. 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. PMID:26010214

  4. 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.

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

    Science.gov (United States)

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

    2015-01-01

    The Hedgehog (Hh) signaling pathway mediates multiple spatiotemporally-specific aspects of brain and face development. Genetic and chemical disruptions of the pathway are known to result in an array of structural malformations, including holoprosencephaly (HPE), clefts of the lip with or without cleft palate (CL/P), and clefts of the secondary palate only (CPO). Here, we examined patterns of dysmorphology caused by acute, stage-specific Hh signaling inhibition. Timed-pregnant wildtype C57BL/6J mice were administered a single dose of the potent pathway antagonist vismodegib at discrete time points between gestational day (GD) 7.0 and 10.0, an interval approximately corresponding to the 15th to 24th days of human gestation. The resultant pattern of facial and brain dysmorphology was dependent upon stage of exposure. Insult between GD7.0 and GD8.25 resulted in HPE, with peak incidence following exposure at GD7.5. Unilateral clefts of the lip extending into the primary palate were also observed, with peak incidence following exposure at GD8.875. Insult between GD9.0 and GD10.0 resulted in CPO and forelimb abnormalities. We have previously demonstrated that Hh antagonist-induced cleft lip results from deficiency of the medial nasal process and show here that CPO is associated with reduced growth of the maxillary-derived palatal shelves. By defining the critical periods for the induction of HPE, CL/P, and CPO with fine temporal resolution, these results provide a mechanism by which Hh pathway disruption can result in “non-syndromic” orofacial clefting, or HPE with or without co-occurring clefts. This study also establishes a novel and tractable mouse model of human craniofacial malformations using a single dose of a commercially available and pathway-specific drug. PMID:25793997

  6. Weight Gain in Children with Cleft Lip and Palate without Use of Palatal Plates

    Directory of Open Access Journals (Sweden)

    Renato da Silva Freitas

    2012-01-01

    Full Text Available Goals/Background. To evaluate children’s growth in the first year of life, who have cleft palate and lip, without the use of palatal plates. Materials/Method. Chart review was conducted, retrospectively, in the Center for Integral Assistance of Cleft Lip and Palate (CAIF, in Brazil, between 2008 and 2009. Results for both genders were compared to the data published by the World Health Organization (WHO regarding average weight gain in children during their first year of life. Results. Patients with syndromic diagnosis and with cleft classified as preforamen were excluded, resulting in a final number of 112 patients: 56 male and 56 female. Similar patterns were seen comparing the two genders. Although it was observed weight gain below the average until the 11th month in male patients and until 9 months in female patients, both genders remained at the 50th percentile (p50 and improved after the 4th month of age for boys and the 9th month of age for girls. Conclusion. Children with cleft palate weigh less than regular children during their first months of life. At the end of the first year, weight gain is similar comparing normal and affected children. However, factors that optimized weight gain included choosing the best treatment for each case, proper guidance, and multiprofessional integrated care.

  7. 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

  8. 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. PMID:26923345

  9. Diagnostic implications of associated defects in patients with typical orofacial clefts

    Directory of Open Access Journals (Sweden)

    Isabella L. Monlleó

    2015-10-01

    Full Text Available ABSTRACT OBJECTIVES: To describe prevalence of associated defects and clinical-genetic characteristics of patients with typical orofacial clefts seen at a reference genetic service. METHODS: Descriptive study conducted between September of 2009 and July of 2014. Two experienced dysmorphologists personally collected and coded clinical data using a validated, standard multicenter protocol. Syndromic cases were defined by the presence of four or more minor defects, one or more major defects, or recognition of a specific syndrome. Fisher's exact and Kruskal-Wallis tests were used for statistics. RESULTS: Among 141 subjects, associated defects were found in 133 (93%, and 84 (59.5% were assigned as syndromic. Cleft palate was statistically associated with a greater number of minor defects (p < 0.0012 and syndromic assignment (p < 0.001. Syndromic group was associated with low birth weight (p < 0.04 and less access to surgical treatment (p < 0.002. There was no statistical difference between syndromic and non-syndromic groups regarding gender (p < 0.55, maternal age of 35 years and above (p < 0.50, alcohol (p < 0.50 and tobacco consumption (p < 0.11, consanguinity (p < 0.59, recurrence (p < 0.08, average number of pregnancies (p < 0.32, and offspring (p < 0.35. CONCLUSIONS: There is a lack of information on syndromic clefts. The classification system for phenotype assignment adopted in this study has facilitated recognition of high prevalence of associated defects and syndromic cases. This system may be a useful strategy to gather homogeneous samples, to elect appropriate technologies for etiologic and genotype-phenotype approaches, and to assist with multiprofessional care and genetic counseling.

  10. Maternal inheritance of severe hypertriglyceridemia impairs glucose metabolism in offspring

    Institute of Scientific and Technical Information of China (English)

    Ya-Hong Ma; Caiguo Yu; Abudurexiti Kayoumu; Xin Guo; Zhili Ji; George Liu

    2015-01-01

    Maternally inherited familial hypercholesterolemia (FH) impairs glucose metabolism and increases cardiovascular risks in the offspring to a greater degree than paternal inherited FH.However,it remains unknown whether hypertriglyceridemia affects glucose metabolism via inheritance.In this study,we sought to compare the impact of maternally and paternally inherited hypertriglyceridemia on glucose and lipid metabolism in mice.ApoCⅢ transgenic mice with severe hypertriglyceridemia were mated with non-transgenic control mice to obtain 4 types of offspring:maternal non-transgenic control and maternal transgenic offspring,and paternal control and paternal transgenic offspring.Plasma triglycerides (TG),total cholesterol (TC),fasting plasma glucose (FPG) and fasting insulin (FINS) were measured.ApoCⅢ overexpression caused severe hypertriglyceridemia,but the transgenic female mice had unaltered fertility with normal pregnancy and birth of pups.The 4 groups of offspring had similar birth weight and growth rate.The plasma TG of maternal and paternal transgenic offspring were nearly 40-fold higher than maternal and paternal control mice,but there was no difference in plasma TG between maternal and paternal transgenic offspring.Although the FPG of the 4 groups of animals had no difference,the maternal transgenic mice showed impaired glucose tolerance,increased FINS levels and higher homeostasis model assessment insulin resistance index (HOMA-IR) than the other 3 groups.In conclusion,maternally inherited hypertriglyceridemia in ApoCⅢ transgenic mice displayed impaired glucose tolerance,hyperinsulinemia and increased HOMA-R,while paternally inherited hypertriglyceridemia did not have such impacts.

  11. 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.

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

    OpenAIRE

    Seifeldin, Sameh A.

    2015-01-01

    Cleft lip and palate (CL/P) is a frequent congenital malformation that manifests in several varieties including unilateral or bilateral and complete or incomplete. Alveolar cleft reconstruction remains controversial with regard to timing, graft materials, surgical techniques, and methods of evaluation. Many studies have been conducted addressing these points to develop an acceptable universal protocol for managing CL/P. The primary goal of alveolar cleft reconstruction in CL/P patients is to ...

  13. A Review of Hearing Loss in Cleft Palate Patients

    OpenAIRE

    Bilal Gani; Kinshuck, A. J.; Sharma, R.

    2012-01-01

    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 th...

  14. 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.

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

    Directory of Open Access Journals (Sweden)

    Reema Sharma Dhar

    2014-01-01

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

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

    Science.gov (United States)

    Dhar, Reema Sharma; Bora, Amitava

    2014-01-01

    Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report. PMID:25231046

  17. 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.

  18. 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....

  19. 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.

  20. 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 ...

  1. Median cleft lip: A new method of surgical repair

    Directory of Open Access Journals (Sweden)

    Khandekar B

    2010-01-01

    Full Text Available The aim is to discuss a new method of muscle repair in midline cleft lip. Three patients with midline cleft lip were repaired with our technique of muscle repair and the results evaluated. Our new method of muscle repair in the form of ′Z′ helps in forming the philtral dimple.

  2. 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

  3. 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.

  4. 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.

  5. Parental age and characteristics of the offspring.

    Science.gov (United States)

    Liu, Yongsheng; Zhi, Mingxing; Li, Xiuju

    2011-01-01

    The relations of an offspring to its parents are complex, and the ways in which a parent may influence the characteristics of its offspring are many. This review focuses on the relations of parental age to intelligence, health outcomes, longevity and other characteristics of offspring. Many researchers have demonstrated that children of older parents tend to be more intelligent than do children of younger parents, although there are also some negative findings. Either teenage or advanced parental age is associated with risk of birth and health outcomes in offspring. Parental age at birth displays a negative association with offspring longevity. Parental age can also influence dominant characters, sex ratio, personality and development process of the offspring. To fully analyze the influence of parental age on the offspring is of great significance in deciding the optimal age for parenthood. PMID:20887815

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

    Science.gov (United States)

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

    2016-01-01

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

  7. Reproductive patterns among Danish women with oral clefts

    DEFF Research Database (Denmark)

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

    2011-01-01

    cleft had an average of 1.98 child per woman. This did not differ significantly from the background population (2.02 child/woman). Furthermore, the present study found that Danish women born with oral clefts on average were older (27.3 years of age) than the background population (24.7 years of age......Objective: The aim of the study was to compare the reproduction pattern among Danish women born with isolated oral clefts with the Danish background population. Design and setting: A nationwide population based historic cohort-study based on three registers: The Danish Facial Cleft Register......, The Danish Civil Registration System and the Fertility of Women and Couples Dataset. Participants: Through linkages of the registers, number of children and the exact age at childbirth of all Danish women born with an oral cleft during 1950 through 1988 (N=1,931) were obtained. These data were compared...

  8. TESSIER CLEFT NO. 7: REPORT OF 12 CASES

    Directory of Open Access Journals (Sweden)

    Utpal

    2014-06-01

    Full Text Available Tessier cleft 7, also known as Transverse facial cleft or congenital macrostomia, is a rare congenital anomaly. It presents with varying degree of severity and is associated with anomalies of other structures developing from first and second branchial arches. We report twelve cases of Tessier cleft 7 presenting to us at various ages. The cases were studied on the basis of antenatal and family history, age, sex, laterality, severity and other associated anomalies. The clefts were classified complete or incomplete on the basis of their lateral extension. Surgical correction of the clefts consisted of soft tissue repair and correction of associated deformities with satisfactory functional and aesthetic results, without any intra-operative and post-operative complications.

  9. 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.

  10. 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...

  11. Solitary median maxillary central incisor syndrome associated with unique cleft palate: a rare case report.

    Science.gov (United States)

    Holla, Goda; Ramakrishna, Yeluri; Holla, Anup; Munshi, Autar Krishen

    2014-01-01

    Solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly that affects 1:50,000 live births. SMMCI syndrome is characterized by the presence of a single central incisor located on the maxillary midline in both primary and permanent dentitions. It may occur as an isolated finding or in association with developmental defects and systemic involvement. Congenital anomalies associated with SMMCI syndrome can include short stature, mild forms of deviation in craniofacial morphology, mild to severe intellectual disability, congenital heart disease, and cleft lip and/or palate. This report describes a clinical case of a 7-year-old girl with SMMCI syndrome--in addition to bilateral residual cleft and associated nasal regurgitation--that was treated with a removable maxillary obturator. PMID:24598504

  12. 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.

  13. 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.

  14. 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

  15. Prevalence of caries in Brazilian children with cleft lip and∕or palate, aged 6 to 36 months

    Directory of Open Access Journals (Sweden)

    Agda Maria de Moura

    2013-09-01

    Full Text Available The aim of this study was to assess the prevalence of caries in children with cleft lip and∕or palate aged 6–36 months of life. This study was conducted at the University of São Paulo School of Dentistry, Brazil. A total of 143 children were selected (73 male, 70 female, all of whom had at least two erupted teeth. The children were distributed as follows: 88 had cleft lip and palate, 35 had cleft palate, 20 had cleft lip. Dental caries disease was diagnosed according to criteria set by the World Health Organization. It was observed that 18.9% of the study children had caries. No correlation between prevalence of caries and gender or type of cleft was observed. Mean dmf-t was 0.47. The prevalence of caries was higher in the upper arch, and the most affected tooth was the central incisor (p = 0.001. Children with cleft lip and∕or palate did not have high caries indices.

  16. 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.

  17. 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.

  18. Analysis of Susceptibility Loci for Nonsyndromic Orofacial Clefting in a European Trio Sample

    NARCIS (Netherlands)

    Bohmer, A.C.; Mangold, E.; Tessmann, P.; Mossey, P.A.; Steegers-Theunissen, R.P.M.; Lindemans, J.; Bouwman-Both, M.; Rubini, M.; Franceschelli, P.; Aiello, V.; Peterlin, B.; Molloy, A.M.; Nothen, M.M.; Knapp, M.; Ludwig, K.U.

    2013-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P), the most common type of orofacial clefting, is one of the most frequent congenital defects. Based on epidemiological data, NSCL/P can be distinguished from nonsyndromic cleft palate only (NSCPO). Both phenotypes have a complex etiology an

  19. 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.

  20. 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

  1. Growth hormone deficiency in cleft lip and palate patients

    Directory of Open Access Journals (Sweden)

    Shahin AbdollahiFakhim

    2015-11-01

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

  2. Unfavourable results in the repair of the cleft lip

    Directory of Open Access Journals (Sweden)

    Puthucode V Narayanan

    2013-01-01

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

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

    OpenAIRE

    Buket Uysal Aladag; Fatma Hilal Yilmaz; Nadir Kocak; Ali Annagur

    2013-01-01

    Ectrodactyly, ectodermal dysplasia, cleft lip, and palate syndrome (EEC) is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia and orofacial clefts (cleft lip/ palate). A few cases have been reported in literature. The cardinal components of the syndrome are ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate, and abnormalities ectodermal structures including skin (i.e. hypopigmented and dry skin, hyperkeratosis, skin atr...

  4. 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.

  5. 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.

  6. 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.

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

    International Nuclear Information System (INIS)

    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

  8. 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.

  9. 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.

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

    Science.gov (United States)

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

    2008-10-01

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

  11. Yolk androgens reduce offspring survival.

    OpenAIRE

    Sockman, K W; Schwabl, H

    2000-01-01

    Females may favour some offspring over others by differential deposition of yolk hormones. In American kestrels (Falco sparverius), we found that yolks of eggs laid late in the sequence of a clutch had more testosterone (T) and androstenedione (A4) than yolks of first-laid eggs. To investigate the effects of these yolk androgens on nestling 'fitness', we injected both T and A4 into the yolks of first-laid eggs and compared their hatching time, nestling growth and nestling survival with those ...

  12. Maternal inheritance of severe hypertriglyceridemia impairs glucose metabolism in offspring

    OpenAIRE

    Ma, Ya-Hong; Yu, Caiguo; Kayoumu, Abudurexiti; Guo, Xin; Ji, Zhili; Liu, George

    2015-01-01

    Abstract Maternally inherited familial hypercholesterolemia (FH) impairs glucose metabolism and increases cardiovascular risks in the offspring to a greater degree than paternal inherited FH. However, it remains unknown whether hypertriglyceridemia affects glucose metabolism via inheritance. In this study, we sought to compare the impact of maternally and paternally inherited hypertriglyceridemia on glucose and lipid metabolism in mice. ApoCIII transgenic mice with severe hypertriglyceridemia...

  13. 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.

  14. 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...... and ABCA4. Expression studies support a role for MAFB in palatal development....

  15. Drug treatment of malaria infections can reduce levels of protection transferred to offspring via maternal immunity

    OpenAIRE

    Staszewski, Vincent; Reece, Sarah E; O'Donnell, Aidan J.; Cunningham, Emma J. A.

    2012-01-01

    Maternally transferred immunity can have a fundamental effect on the ability of offspring to deal with infection. However, levels of antibodies in adults can vary both quantitatively and qualitatively between individuals and during the course of infection. How infection dynamics and their modification by drug treatment might affect the protection transferred to offspring remains poorly understood. Using the rodent malaria parasite Plasmodium chabaudi, we demonstrate that curing dams part way ...

  16. 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.

  17. Cleft lip as a presentation of congenital syphilis

    Directory of Open Access Journals (Sweden)

    Richa Gupta

    2012-01-01

    Full Text Available Congenital syphilis may present with unusual symptoms in early stages which needs to be identified for prompt treatment. Here, we present a case of 13-day-old female child with congenital syphilis presenting with cleft lip.

  18. Helping parents cope with a cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Jenny Steyn

    1980-09-01

    Full Text Available For the layman, the area of cleft palate is one shrouded in mystery and half-knowledge. An unrepaired cleft lip and palate is an unpleasant, if not alarming sight, and parents are not always totally convinced by the reassuring words of doctors and nurses that “ plastic surgeons do a marvellous job on cleft palate babies.” They need proof that their baby will indeed look and be like any other baby within a few months. Equally important, they need reassurance that whatever feelings they may experience when their babies are born are natural and appropriate ones. As the baby grows and develops parents may need practical assistance, emotional support and information regarding their baby’s condition. It is essentially for these reasons that a fellowship group has been established under the auspices of SAIDA (Southern Africa Inherited Disorders Association to help parents and families of cleft lip and palate children.

  19. Unilateral Cleft Lip and Nasal Repair: Techniques and Principles

    Directory of Open Access Journals (Sweden)

    Mohammad-Ali Raisolsadat

    2011-06-01

    Full Text Available The Mashhad University of Medical Sciences and the Sheikh Hospital in Mashhad sponsored a Cleft Lip and Palate Workshop 30 April - 1 May 2009. During the Workshop, 6 surgical cases were performed and televised live to the audience attending the conference. Two of those cases were unilateral cleft lip repairs. The surgical technique used to repair these patients by the primary author (JGM is a hybrid technique. It has evolved over the last decade as a result of prior surgical literature as well as first hand observation of various surgical colleagues. The following manuscript describes the surgical technique used at the Cleft Workshop in a step-wise or atlas-like fashion. The technique portion of the paper describes the repair of the unilateral cleft lip and nasal deformity in roughly the order the first author typically performs the procedure. More importantly, the final section of the paper details the principles that form the foundation for the techniques described.

  20. Changing lifestyles and oral clefts occurrence in Denmark

    DEFF Research Database (Denmark)

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

    2005-01-01

    ; furthermore, smoking among pregnant women decreased considerably. Design and settings There are few places in which ecological studies of oral clefts are possible. Denmark provides a particularly good setting for this kind of study, due to a high ascertainment and a centralized registration of cleft cases...... births, 95% CI=1.37 to 1.52). The introduction of folic acid and the decrease in smoking prevalence among pregnant women do not seem to have reduced the birth prevalence negatively. This may be due to non-compliance in respect to the folic acid recommendation and/or only a weak causal association between......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...

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

    Science.gov (United States)

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

    2016-08-25

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

  2. 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 ...

  3. Contemporary Approaches in the Repair of Alveolar Clefts

    Directory of Open Access Journals (Sweden)

    Ufuk Tatli

    2014-08-01

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

  4. 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…

  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. 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.

  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. 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. PMID:21078378

  9. 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.

  10. The Impact of Maternal Vitamin D Status on Offspring Brain Development and Function: a Systematic Review.

    Science.gov (United States)

    Pet, Milou A; Brouwer-Brolsma, Elske M

    2016-07-01

    Various studies have examined associations between maternal vitamin D (VD) deficiency and offspring health, including offspring brain health. The purpose of this review was to summarize current evidence concerning the impact of maternal VD deficiency on brain development and function in offspring. A systematic search was conducted within Medline (on Ovid) for studies published through 7 May 2015. Animal and human studies that examined associations between maternal VD status or developmental VD deficiency and offspring brain development and function were included. A total of 26 animal studies and 10 human studies met the inclusion criteria. Several animal studies confirmed the hypothesis that low prenatal VD status may affect brain morphology and physiology as well as behavioral outcomes. In humans, subtle cognitive and psychological impairments in offspring of VD-deficient mothers were observed. However, data obtained from animal and human studies provide inconclusive evidence, and results seem to depend on strain or race and age of offspring. To conclude, prenatal VD status is thought to play an important role in brain development, cognitive function, and psychological function. However, results are inconclusive; validation of these findings and investigation of underlying mechanisms are required. Thus, more investigation is needed before recommending supplementation of VD during pregnancy to promote brain health of offspring. PMID:27422502

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

    International Nuclear Information System (INIS)

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

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

    OpenAIRE

    Thakkar Sejal; Marfatia Yogesh

    2007-01-01

    Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC) is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son prese...

  13. Ectrodactyly, cleft lip and palate in two half sibs.

    OpenAIRE

    Lewis, M B; Pashayan, H M

    1981-01-01

    Two half sibs with bilateral complete cleft lip and complete cleft of the palate associated with ectrodactyly of the hands and feet, born to the same phenotypically normal mother, are reported. The younger of the two sibs also has dominantly inherited tremors (also referred to as essential heredofamilial tremors) as did her biological father. Possible genetic causes to explain the recurrence of the facial and limb malformations in the half sibs with additional central nervous system malformat...

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1993-08-15

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

  15. 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.

  16. 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.

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

    International Nuclear Information System (INIS)

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

  18. 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.

  19. ENDOTRACHEAL INTUBATION IN A CHILD HAVING OCCIPITAL ENCEPHALOCELE WITH BILATERAL CLEFT LIP AND CLEFT PALATE: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Shridhar N

    2014-11-01

    Full Text Available : Basically endotracheal intubation in pediatric age group especially in infants is difficult due to large head, relatively large tongue, anteriorly placed larynx, longer and stiffer epiglottis which protrudes at 450 angle and short neck. When such pediatric patient comes with craniofacial congenital malformations, the management of airway becomes more challenging. Here we report a case of occipital encephalocele associated with bilateral cleft lip and cleft palate coming for V P shunt procedure.

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

    Science.gov (United States)

    Park, Jong Lim; Hwang, Kun

    2015-06-01

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

  1. 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.

  2. Prevalence of cleft lip and palate among four provinces in the West and North-West of Iran

    Science.gov (United States)

    Jalilevand, Nahid; Jalaie, Shohreh

    2015-01-01

    Background: One of the most common anomalies in newborn infants is cleft lip and/or cleft palate (CL/P). In spite of several studies about the prevalence of this, no investigation evaluated this prevalence in the West and North-West of Iran. With due attention to different ethnic groups in this area, the aim of this study is to investigate whether the distribution of CL/P live births varies regionally in this area of Iran. Materials and Methods: A cross-sectional study was conducted using hospital registry records to identify all children born with CL/P. The hospitals with a maternity unit were selected in the capital cities of four provinces in the West and North-West of Iran, East Azarbaijan, Kurdestan, Gilan, and Markazi. The population under study included all infants born alive from 2008 to 2012. Results: During the study period, 107,317 live births were registered in the hospitals with a maternity unit of four cities, and 52 infants (0.485/1000 live births) were born with CL/P. The prevalence in Rasht, Arak, Sanandaj, and Tabriz cities was 0.557, 0.352, 0.503, and 0.559/1000 live births, respectively (P 0.05), whereas the prevalence of CL/P based on sex was statistically different among the four provinces (P < 0.05). Conclusion: This study shows regional variations in the birth prevalence of clefts and various cleft types. The different effects of gender on the birth prevalence of CL/P from city-to-city may be explained environmentally and/or by genetic factors affecting the development of oral clefts. PMID:26600829

  3. Prevalence of cleft lip and palate among four provinces in the West and North-West of Iran

    Directory of Open Access Journals (Sweden)

    Nahid Jalilevand

    2015-01-01

    Full Text Available Background: One of the most common anomalies in newborn infants is cleft lip and/or cleft palate (CL/P. In spite of several studies about the prevalence of this, no investigation evaluated this prevalence in the West and North-West of Iran. With due attention to different ethnic groups in this area, the aim of this study is to investigate whether the distribution of CL/P live births varies regionally in this area of Iran. Materials and Methods: A cross-sectional study was conducted using hospital registry records to identify all children born with CL/P. The hospitals with a maternity unit were selected in the capital cities of four provinces in the West and North-West of Iran, East Azarbaijan, Kurdestan, Gilan, and Markazi. The population under study included all infants born alive from 2008 to 2012. Results: During the study period, 107,317 live births were registered in the hospitals with a maternity unit of four cities, and 52 infants (0.485/1000 live births were born with CL/P. The prevalence in Rasht, Arak, Sanandaj, and Tabriz cities was 0.557, 0.352, 0.503, and 0.559/1000 live births, respectively (P 0.05, whereas the prevalence of CL/P based on sex was statistically different among the four provinces (P < 0.05. Conclusion: This study shows regional variations in the birth prevalence of clefts and various cleft types. The different effects of gender on the birth prevalence of CL/P from city-to-city may be explained environmentally and/or by genetic factors affecting the development of oral clefts.

  4. 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.

  5. Cleft and Craniofacial Mission Care: Management of Facial Clefts: International Missions.

    Science.gov (United States)

    Moses, Jeffrey J; Rochelle, Whitney J

    2016-05-01

    This article guides readers in the venture of creating, funding, or volunteering with a facial-cleft mission treatment team. This outline is intended to emphasize longitudinal care for all patients. Advanced planning is key to mission success. Part of this is researching and becoming familiar with the safety, regulations, culture, facilities available, and local service organizations. Many of the service organizations listed in this article have valuable contacts with local dentists and surgeons within the community. They also have insight into the local facilities, hospitals, water sources, sanitation conditions, and equipment potential. PMID:27150306

  6. 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.

  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.

    Science.gov (United States)

    De Gasperin, Ornela; Kilner, Rebecca M

    2016-01-01

    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. PMID:26985819

  8. 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.

  9. 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

    Science.gov (United States)

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

    2015-01-01

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

  10. Sex-specific Effects of Exercise Ancestry on Metabolic, Morphological, and Gene Expression Phenotypes in Multiple Generations of Mouse Offspring

    OpenAIRE

    Guth, Lisa M.; Andrew T. Ludlow; Witkowski, Sarah; Marshall, Mallory R.; Lima, Laila C. J.; Venezia, Andrew C.; Xiao, Tao; Lee, Mei-Ling Ting; Spangenburg, Espen E.; Roth, Stephen M.

    2013-01-01

    Early life and pre-conception environmental stimuli can affect adult health-related phenotypes. Exercise training is an environmental stimulus affecting many systems throughout the body and appears to alter offspring phenotypes. The aim of this study was to examine the influence of parental exercise training, or “exercise ancestry,” on morphological and metabolic phenotypes in two generations of mouse offspring. F0 C57BL/6 mice were exposed to voluntary exercise or sedentary lifestyle and bre...

  11. 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...

  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. Prosthodontic treatment of the edentulous adult cleft palate patient.

    Science.gov (United States)

    Sykes, Leanne M

    2003-03-01

    Clefts of the upper lip and plate are relatively common, yet dental treatment of these patients is still very poor and many grow up suffering dental neglect. Dental practitioners should become involved in the treatment team as dental needs are present from birth to death. Adult cleft patients often need tooth replacement with obturation of any residual clefts. They are best treated with tooth-supported removable appliances including partial and complete overdentures, thus preservation of their natural dentition is desirable. Edentulous cleft palate patients present with restorative difficulties due to their compromised maxillary arches as well as the presence of scar tissue in their palates and lips. An outline of these complications and guidelines for their treatment is illustrated in the form of three case reports from members of one family all presenting with varying cleft lip and palate defects. This article highlights the need for dental students to be exposed to dentally compromised patients so that they will feel confident enough to treat them in private practice. PMID:12800267

  14. How to make young children produce cleft sentences.

    Science.gov (United States)

    Hupet, M; Tilmant, B

    1989-06-01

    The present study focuses on the effects of contextual demands on the selection of a particular syntactic device, in asking whether French-speaking children from 4 to 10 years old will spontaneously produce it-cleft sentences if there is a functional necessity arising from the context. Taking into account recent studies that have specified the discourse function(s) served by this marked sentence form, it was hypothesized that the cleft formulation would be more likely than its uncleft counterpart whenever the child's intention was to contrast their own belief or knowledge with that of their addressee. The study showed this to be the case when the matter of the disagreement concerned the agent of an action: that situation elicited an overwhelming majority (from 80% to 97%) of cleft constructions, even from the youngest children. On the other hand, when the matter of the disagreement concerned the patient, there were only a few cleft constructions, even with the oldest children; contrastive stress on the object constituent was the predominant device employed for marking information in that situation. The high proportion of clefts in the Agent condition, and the high proportion of stressed object constituents in the Patient condition, both differ from previously reported data. These differences are discussed with reference to differences in task requirements and to differences between the prosodic constraints of French and English. PMID:2760126

  15. Open Pollinated Offspring for Producing Potatoes from True Seed

    Directory of Open Access Journals (Sweden)

    Golmirzaie, AM.

    2004-01-01

    Full Text Available Open pollinated (OP offspring offers a cheap propagule for potato production from true seed (TPS. A series of trials in contrasting Peruvian locations including several generations derived by open pollination were carried out to determine the potential of OP for TPS. The results suggest that several generations of OP did not affect the performance of TPS for tuber characteristics. On average, F1 hybrids out-yielded first generation OP offspring, but tuber yield per plot of advanced OP generations (OP5 across locations did not differ significantly from that shown by F1 hybrids. It seems that the effect of potential inbreeding in early OP generations was absent in advanced OP generations, maybe due to selection of heterozygous parents in the preceding generations. Results from sequential harvests showed that initiation and bulking of tubers are slower in advanced generations of OP than in the first OP generation, particularly in the warm tropics. Nonetheless, some OP TPS did not differ significantly for tuber yield across generations, suggesting that farmers may grow commercially selected OP offspring.

  16. 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.

  17. Is there an optimal resting velopharyngeal gap in operated cleft palate patients?

    OpenAIRE

    Rajesh Yellinedi; Mukunda Reddy Damalacheruvu

    2013-01-01

    Context: Videofluoroscopy in operated cleft palate patients. Aims: To determine the existence of an optimal resting velopharyngeal (VP) gap in operated cleft palate patients Settings and Design: A retrospective analysis of lateral view videofluoroscopy of operated cleft palate patients. Materials and Methods: A total of 117 cases of operated cleft palate underwent videofluoroscopy between 2006 and 2011. The lateral view of videofluoroscopy was utilised in the study. A retrospective analysis o...

  18. Theme and Information structure in French and English : A contrastive study of journalistic clefts

    OpenAIRE

    Carter-Thomas, Shirley

    2002-01-01

    In this article I will discuss factors motivating the use of the French c'est cleft structure, a marked-word order structure encountered with greater frequency in French discourse than the comparable it-cleft in English. Previous studies dealing with the English it-cleft, or predicated theme as it is usually termed in systemic linguistics, have generally sought to account for the structure in terms of contrastivness or specification, with the clefted element providing a certain thematic promi...

  19. 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

  20. Yolk androgens reduce offspring survival.

    Science.gov (United States)

    Sockman, K W; Schwabl, H

    2000-07-22

    Females may favour some offspring over others by differential deposition of yolk hormones. In American kestrels (Falco sparverius), we found that yolks of eggs laid late in the sequence of a clutch had more testosterone (T) and androstenedione (A4) than yolks of first-laid eggs. To investigate the effects of these yolk androgens on nestling 'fitness', we injected both T and A4 into the yolks of first-laid eggs and compared their hatching time, nestling growth and nestling survival with those of first-laid eggs in which we injected vehicle as a control. Compared to controls, injection of T and A4 at a dose intended to increase their levels to those of later-laid eggs delayed hatching and reduced nestling growth and survival rates. Yolk androgen treatment of egg 1 had no effect on survival of siblings hatching from subsequently laid eggs. The adverse actions of yolk androgen treatment in the kestrel are in contrast to the favourable actions of yolk T treatment found previously in canaries (Serinus canaria). Additional studies are necessary in order to determine whether the deposition of yolk androgens is an adaptive form of parental favouritism or an adverse by-product of endocrine processes during egg formation. Despite its adaptive significance, such 'transgenerational' effects of steroid hormones may have helped to evolutionarily shape the hormonal mechanisms regulating reproduction. PMID:10983830

  1. 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.

  2. Low Folate and Selenium in the Mouse Maternal Diet Alters Liver Gene Expression Patterns in the Offspring after Weaning

    Directory of Open Access Journals (Sweden)

    Matthew P.G. Barnett

    2015-05-01

    Full Text Available During pregnancy, selenium (Se and folate requirements increase, with deficiencies linked to neural tube defects (folate and DNA oxidation (Se. This study investigated the effect of a high-fat diet either supplemented with (diet H, or marginally deficient in (diet L, Se and folate. Pregnant female mice and their male offspring were assigned to one of four treatments: diet H during gestation, lactation and post-weaning; diet L during gestation, lactation and post-weaning; diet H during gestation and lactation but diet L fed to offspring post-weaning; or diet L during gestation and lactation followed by diet H fed to offspring post-weaning. Microarray and pathway analyses were performed using RNA from colon and liver of 12-week-old male offspring. Gene set enrichment analysis of liver gene expression showed that diet L affected several pathways including regulation of translation (protein biosynthesis, methyl group metabolism, and fatty acid metabolism; this effect was stronger when the diet was fed to mothers, rather than to offspring. No significant differences in individual gene expression were observed in colon but there were significant differences in cell cycle control pathways. In conclusion, a maternal low Se/folate diet during gestation and lactation has more effects on gene expression in offspring than the same diet fed to offspring post-weaning; low Se and folate in utero and during lactation thus has persistent metabolic effects in the offspring.

  3. Effects of female diet and age on offspring sex ratio of the solitary parasitoid Pachycrepoideus vindemmiae (Rondani (Hymenoptera, Pteromalidae

    Directory of Open Access Journals (Sweden)

    Hao-Yuan Hu

    2012-06-01

    Full Text Available Effects of female diet and age on offspring sex ratio of the solitary parasitoid Pachycrepoideus vindemmiae (Rondani (Hymenoptera, Pteromalidae. Theories predict that females of parasitoid wasps would adjust the offspring sex ratio to environmental conditions in the oviposition patch, but the diet and age of females would also affect the sex ratio adjustment. Our focus was to test the effects of female diet and age on offspring sex ratio of the solitary parasitoid wasp, Pachycrepoideus vindemmiae (Rondani, 1875. Our results showed that females fed with honey had significantly less female biased offspring sex ratio than those fed only with water. Offspring sex ratio (male percentage decreased with female age or female longevity at the beginning of oviposition but increased at the end. There should be a sperm limitation in P. vindemmiae females at the end of oviposition, and a higher frequency of unfertilized eggs were laid then. Females also laid more unfertilized eggs at the beginning of oviposition, which would be necessary to insure the mating among offspring. Male offspring developed faster and emerged earlier, which would also reduce the risk of virginity in offspring with female-biased sex ratio.

  4. 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

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

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  6. 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.

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

    Science.gov (United States)

    Hollegaard, Birgitte; Byars, Sean G; Lykke, Jacob; Boomsma, Jacobus J

    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 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. PMID:23451092

  8. Moderate Heat Challenge Increased Yolk Steroid Hormones and Shaped Offspring Growth and Behavior in Chickens

    OpenAIRE

    Aline Bertin; Marine Chanson; Joël Delaveau; Frédéric Mercerand; Erich Möstl; Ludovic Calandreau; Cécile Arnould; Christine Leterrier; Anne Collin

    2013-01-01

    BACKGROUND: Environmental challenges might affect the maternal organism and indirectly affect the later ontogeny of the progeny. We investigated the cross-generation impact of a moderate heat challenge in chickens. We hypothesized that a warm temperature--within the thermotolerance range--would affect the hormonal environment provided to embryos by mothers, and in turn, affect the morphology and behavioral phenotype of offspring. METHODOLOGY/PRINCIPAL FINDINGS: Laying hens were raised under a...

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. 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.

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

    OpenAIRE

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

    2016-01-01

    Isolated cleft palate (CPO) is the rarest form of oral clefting. The incidence of CPO varies substantially by geography from 1.3 to 25.3 per 10,000 live births, with the highest rates in British Columbia, Canada and the lowest rates in Nigeria, Africa. Stratified by ethnicity/race, the highest rates of CPO are observed in non-Hispanic Whites and the lowest in Africans; nevertheless, rates of CPO are consistently higher in females compared to males. Approximately fifty percent of cases born wi...

  15. Epidemiology, Etiology and Treatment of Isolated Cleft Palate

    OpenAIRE

    Burg, Madeleine L.; Yang eChai; Caroline eYao; William eMagee; Figueiredo, Jane C.

    2016-01-01

    Isolated cleft palate (CPO) is the rarest form of oral clefting. The incidence of CPO varies substantially by geography from 1.3 to 25.3 per 10,000 live births, with the highest rates in British Columbia, Canada and the lowest rates in Nigeria, Africa. Stratified by ethnicity/race, the highest rates of CPO are observed in non-Hispanic Whites and the lowest in Africans; nevertheless, rates of CPO are consistently higher in females compared to males. Approximately fifty percent of children born...

  16. 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.

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

    Directory of Open Access Journals (Sweden)

    Thakkar Sejal

    2007-01-01

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

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

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    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

  19. 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.

  20. Maternal seizures can affect the brain developing of offspring.

    Science.gov (United States)

    Cossa, Ana Carolina; Lima, Daiana Correia; do Vale, Tiago Gurgel; de Alencar Rocha, Anna Karynna Alves; da Graça Naffah-Mazzacoratti, Maria; da Silva Fernandes, Maria José; Amado, Debora

    2016-08-01

    To elucidate the impact of maternal seizures in the developing rat brain, pregnant Wistar rats were subjected to the pilocarpine-induced seizures and pups from different litters were studied at different ages. In the first 24 h of life, blood glucose and blood gases were analyzed. (14)C-leucine [(14)C-Leu] incorporation was used to analyze protein synthesis at PN1, and Western Blot method was used to analyze protein levels of Bax, Bcl-2 and Poly(ADP-ribose) polymerase-1 (PARP-1) in the hippocampus (PN3-PN21). During the first 22 days of postnatal life, body weight gain, length, skull measures, tooth eruption, eye opening and righting reflex have been assessed. Pups from naive mothers were used as controls. Experimental pups showed a compensated metabolic acidosis and hyperglycemia. At PN1, the [(14)C-Leu] incorporation into different studied areas of experimental pups was lower than in the control pups. During development, the protein levels of Bax, Bcl-2 and PARP-1 in the hippocampus of experimental pups were altered when compared with control pups. A decreased level of pro- and anti-apoptotic proteins was verified in the early postnatal age (PN3), and an increased level of pro-apoptotic proteins concomitant with a reduced level of anti-apoptotic protein was observed at the later stages of the development (PN21). Experimental pups had a delay in postnatal growth and development beyond disturb in protein synthesis and some protein expression during development. These changes can be result from hormonal alterations linked to stress and/or hypoxic events caused by maternal epileptic seizures during pregnancy. PMID:27085526

  1. Does the Gender of Offspring Affect Parental Political Orientation?

    OpenAIRE

    Byungkyu Lee; Dalton Conley

    2014-01-01

    Recently, the sex of child has been widely used as a natural experiment and shown to induce change of the allegedly stable political predisposition, however, prior results have been contradictory: in the U.K., researchers found that having daughters leads to parents favoring left-wing political parties and to holding more liberal views on family/gender roles, whereas in the U.S. scholars found that daughters were associated with more Republican (rightist) party identification and more conserv...

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

    Science.gov (United States)

    Kratzsch, H; Opitz, C

    2000-01-01

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

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

    Science.gov (United States)

    Dong, Lijia; Ma, Lian

    2015-01-01

    The transforming growth factor alpha (TGFA) Taq I polymorphism has been indicated to be correlated with cleft lip with or without cleft palate (CL/P) susceptibility, but study results are still debatable. Thus, a meta-analysis was conducted. We conducted a comprehensive search of Embase, Ovid, Web of Science, the Cochrane database, PubMed, the Chinese Biomedical Literature Database (CBM-disc, 1979-2014), the database of National Knowledge Infrastructure (CNKI, 1979-2014) and the full paper database of Chinese Science and Technology of Chongqing (VIP, 1989-2014) to identify suitable studies. There were 18 studies suitable for this meta-analysis, involving a total of 3135 cases and 3575 controls. Significantly increased CL/P risk was observed (OR = 1.49; 95% CI 1.17-1.89; P = 0.001). In subgroup analyses stratified by ethnicity, there was evidence in the Caucasian population for an association between this polymorphism and CL/P risk (OR = 1.52; 95% CI 1.14-2.02; P = 0.004). However, no significant association was found between this his polymorphism and CL/P risk in African and Hispanic populations. According to a specific CL/P type, increased clip lip and palate risk and clip palate risk were found (OR = 1.38; 95% CI 1.10-1.73; P = 0.005; OR = 1.29; 95% CI 1.01-1.66; P = 0.042). In conclusion, the present meta-analysis found that the TGFA Taq I polymorphism may be associated with CL/P susceptibility. PMID:26064247

  4. 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

    to 8.0% in 137 offspring with paternal history of diabetes, p=0.09. Offspring with maternal history of T2DM had a mean birthweight 196g higher than offspring with paternal T2DM (3 651±640g (mean±SD) vs. 3 456±472g (p=0.01)). Non-diabetic offspring with birthweights in the lowest tertile had...... 9.60 [10(-5) (min*pmol/L)(-1) ] (8.23-10.97) vs. 11.79 (10.41-13.18), p=0.02 - in adulthood compared to offspring with birthweights in the upper tertile. Conclusions. Offspring with a family history of maternal T2DM have higher birthweights than those with paternal T2DM. Low birthweight associates......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...

  5. 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.

  6. 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.

  7. Two-generational effects of contaminants in Daphnia magna: Effects of offspring quality.

    Science.gov (United States)

    Campos, Bruno; Jordão, Rita; Rivetti, Claudia; Lemos, M F L; Soares, A M V M; Tauler, Roma; Barata, Carlos

    2016-06-01

    The authors set up a protocol to perform a 2-generational ring test using the existing guidelines for the Daphnia magna reproduction test. It is well known in ecology that size and quality of offspring vary across the first clutches in D. magna and that certain chemicals affect offspring quality. Therefore, the origin of the second generation is an important factor to consider. Two-generational effects across first, second, and third clutches were evaluated using 4-nonylphenol; those across first and third clutches were evaluated using tributyltin, and those across the third clutch were evaluated using piperonyl butoxide. The compound showing the greatest aggravation of toxic effects between the parental and second generations was piperonyl butoxide, followed by 4-nonylphenol, whereas intergenerational effects of tributyltin varied across experiments. The studied chemicals affected the quantity and quality of the offspring produced by exposed females of the parental generation, those effects being greater in third-clutch neonates. Therefore, when third-clutch offspring were further exposed, they turned out to be more sensitive than the parental generation. The results are in line with those obtained in multigenerational studies using mammalian tests, which showed that, in many cases, effects on the second generation can be predicted by evaluating the quality of the offspring produced. Environ Toxicol Chem 2016;35:1470-1477. © 2015 SETAC. PMID:26505489

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

    OpenAIRE

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

    2015-01-01

    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 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 subj...

  9. Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate.

    Science.gov (United States)

    Mitra, Amit K; Stessman, Holly A F; Schaefer, Robert J; Wang, Wen; Myers, Chad L; Van Ness, Brian G; Beiraghi, Soraya

    2016-01-01

    Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital birth defects. NSCL/P is a complex multifactorial disease caused by interactions between multiple environmental and genetic factors. However, the causal single nucleotide polymorphism (SNP) signature profile underlying the risk of familial NSCL/P still remains unknown. We previously reported a 5.7-Mb genomic region on chromosome 18q21.1 locus that potentially contributes to autosomal dominant, low-penetrance inheritance of NSCL/P. In the current study, we performed exome sequencing on 12 familial genomes (six affected individuals, two obligate carriers, and four seemingly unaffected individuals) of a six-generation family to identify candidate SNPs associated with NSCL/P risk. Subsequently, targeted bidirectional DNA re-sequencing of polymerase chain reaction (PCR)-amplified high-risk regions of MYO5B gene and sequenom iPLEX genotpying of 29 candidate SNPs were performed on a larger set of 33 members of this NSCL/P family (10 affected + 4 obligate carriers + 19 unaffected relatives) to find SNPs significantly associated with NSCL/P trait. SNP vs. NSCL/P association analysis showed the MYO5B SNP rs183559995 GA genotype had an odds ratio of 18.09 (95% Confidence Interval = 1.86-176.34; gender-adjusted P = 0.0019) compared to the reference GG genotype. Additionally, the following SNPs were also found significantly associated with NSCL/P risk: rs1450425 (LOXHD1), rs6507992 (SKA1), rs78950893 (SMAD7), rs8097060, rs17713847 (SCARNA17), rs6507872 (CTIF), rs8091995 (CTIF), and rs17715416 (MYO5B). We could thus identify mutations in several genes as key candidate SNPs associated with the risk of NSCL/P in this large multi-generation family. PMID:27242896

  10. Fine-mapping of 18q21.1 locus identifies single nucleotide polymorphisms associated with nonsyndromic cleft lip with or without cleft palate

    Directory of Open Access Journals (Sweden)

    AMIT KUMAR MITRA

    2016-05-01

    Full Text Available Nonsyndromic cleft lip with or without cleft palate (NSCL/P is one of the most common congenital birth defects. NSCL/P is a complex multifactorial disease caused by interactions between multiple environmental and genetic factors. However, the causal single nucleotide polymorphism (SNP signature profile underlying the risk of familial NSCL/P still remains unknown. We previously reported a 5.7-Mb genomic region on chromosome 18q21.1 locus that potentially contributes to autosomal dominant, low-penetrance inheritance of NSCL/P. In the current study, we performed exome sequencing on 12 familial genomes (6 affected individuals, 2 obligate carriers, and 4 seemingly unaffected individuals of a six-generation family to identify candidate SNPs associated with NSCL/P risk. Subsequently, targeted bidirectional DNA re-sequencing of polymerase chain reaction (PCR-amplified high-risk regions of MYO5B gene and sequenom iPLEX genotpying of 29 candidate SNPs were performed on a larger set of 33 members of this NSCL/P family (10 affected + 4 obligate carriers + 19 unaffected relatives to find SNPs significantly associated with NSCL/P trait. SNP versus NSCL/P association analysis showed the MYO5B SNP rs183559995 GA genotype had an odds ratio of 18.09 (95% Confidence Interval=1.86-176.34; gender-adjusted Pvalue=0.0019 compared to the reference GG genotype. Additionally, the following SNPs were also found significantly associated with NSCL/P risk: rs1450425 (LOXHD1, rs6507992 (SKA1, rs78950893 (SMAD7, rs8097060, rs17713847 (SCARNA17, rs6507872 (CTIF, rs8091995 (CTIF and rs17715416 (MYO5B.We could thus identify mutations in several genes as key candidate SNPs associated with the risk of NSCL/P in this large multi-generation family.

  11. 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

    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......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......, females were mated and fed a standard laboratory chow diet (22.5% protein) throughout periods of mating, gestation, lactation and weaning. Offspring mice were fed the same standard diet up to 46 days of age. Then offspring were killed and measures of dissected fat deposits and of the digestive system were...

  12. Genetic studies in congenital anterior midline cervical cleft

    DEFF Research Database (Denmark)

    Jakobsen, L P; Pfeiffer, P; Andersen, M;

    2012-01-01

    Congenital anterior midline cervical cleft (CAMCC) is a rare anomaly, with less than 100 cases reported. The cause of CAMCC is unknown, but genetic factors must be considered as part of the etiology. Three cases of CAMCC are presented. This is the first genetic study of isolated CAMCC. Conventional...

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

    Science.gov (United States)

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

    2016-01-01

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

  14. 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

  15. On the cleft construction : is it simplex or complex?

    OpenAIRE

    長谷川, 信子; ハセガワ, ノブコ; Nobuko, Hasegawa

    2011-01-01

    The cleft construction, as its name indicates, involves two parts, a focused part and a presupposition, each of which involves a separate predicate. In the framework of GB and previous to it, each predicate necessarily constitutes a sentence; hence, a Cle

  16. PARENTAL PESTICIDAL EXPOSURE AND RI SK OF CLEFTS IN THE CRANIOFACIAL REGION: A CASE-CONTROL STUDY IN SOUTH INDIA

    OpenAIRE

    Jose Anna Betty; Mokhasi Varsha; Subramani S A; Shashirekha M; Jayanthi K.S; T.Rajini

    2015-01-01

    Obje ctive: The multifactorial etiology of cleft can be due to envi ronmental factors or genetic factors or combination of both. Many studies were conducted to detect the epidemiology of the clefts and the genetic factors causing clefts. There is no or very less studies conducted in India to identify the risk of pesticidal exposure in occurrence of nonsyndromic clefts. The present study is to investigate the risk of parental pesticidal exposure in causing clefts in the craniofacial region. Me...

  17. Facial dimensions of Malay children with repaired unilateral cleft lip and palate: a three dimensional analysis.

    Science.gov (United States)

    Zreaqat, M; Hassan, R; Halim, A S

    2012-06-01

    This comparative cross-sectional study assessed the facial surface dimensions of a group of Malay children with unilateral cleft lip and palate (UCLP) and compared them with a control group. 30 Malay children with UCLP aged 8-10 years and 30 unaffected age-matched children were voluntarily recruited from the Orthodontic Specialist Clinic in Hospital Universiti Sains Malaysia (HUSM). For the cleft group, lip and palate were repaired and assessment was performed prior to alveolar bone grafting and orthodontic treatment. The investigation was carried out using 3D digital stereophotogrammetry. 23 variables and two ratios were compared three-dimensionally between both groups. Statistically significant dimensional differences (P<0.05) were found between the UCLP Malay group and the control group mainly in the nasolabial region. These include increased alar base and alar base root width, shorter upper lip length, and increased nose base/mouth width ratio in the UCLP group. There were significant differences between the facial surface morphology of UCLP Malay children and control subjects. Particular surgical procedures performed during primary surgeries may contribute to these differences and negatively affect the surgical outcome. PMID:22424709

  18. 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.

  19. 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

  20. 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.

  1. 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

  2. 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...

  3. 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.

  4. Responsiveness of cerebral and hepatic cytochrome P450s in rat offspring prenatally exposed to lindane

    International Nuclear Information System (INIS)

    ABSTRACT: Prenatal exposure to low doses of lindane has been shown to affect the ontogeny of xenobiotic metabolizing cytochrome P450s (CYPs), involved in the metabolism and neurobehavioral toxicity of lindane. Attempts were made in the present study to investigate the responsiveness of CYPs in offspring prenatally exposed to lindane (0.25 mg/kg b. wt.; 1/350th of LD50; p. o. to mother) when challenged with 3-methylcholanthrene (MC) or phenobarbital (PB), inducers of CYP1A and 2B families or a sub-convulsant dose of lindane (30 mg/kg b. wt., p. o.) later in life. Prenatal exposure to lindane was found to produce an increase in the mRNA and protein expression of CYP1A1, 1A2, 2B1, 2B2 isoforms in brain and liver of the offspring at postnatal day 50. The increased expression of the CYPs in the offspring suggests the sensitivity of the CYPs during postnatal development, possibly, to low levels of lindane, which may partition into mother's milk. A higher increase in expression of CYP1A and 2B isoenzymes and their catalytic activity was observed in animals pretreated prenatally with lindane and challenged with MC (30 mg/kg, i. p. x 5 days) or PB (80 mg/kg, i. p. x 5 days) when young at age (approx. 7 weeks) compared to animals exposed to MC or PB alone. Further, challenge of the control and prenatally exposed offspring with a single sub-convulsant dose of lindane resulted in an earlier onset and increased incidence of convulsions in the offspring prenatally exposed to lindane have demonstrated sensitivity of the CYPs in the prenatally exposed offspring. Our data assume significance as the subtle changes in the expression profiles of hepatic and cerebral CYPs in rat offspring during postnatal development could modify the adult response to a later exposure to xenobiotics

  5. Delay and impairment in brain development and function in rat offspring after maternal exposure to methylmercury

    NARCIS (Netherlands)

    Radonjic, M.; Cappaert, N.L.M.; Vries, E.F.J. de; Esch, C.E.F. de; Kuper, F.C.; Waarde, A. van; Dierckx, R.A.J.O.; Wadman, W.J.; Wolterbeek, A.P.M.; Stierum, R.H.; Groot, D.M.G. de

    2013-01-01

    Maternal exposure to the neurotoxin methylmercury (MeHg) has been shown to have adverse effects on neural development of the offspring in man. Little is known about the underlying mechanisms by which MeHg affects the developing brain. To explore the neurodevelopmental defects and the underlying mech

  6. 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

  7. 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

  8. 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

  9. Maternal cortisol and offspring birthweight: Results from a large prospective cohort study

    NARCIS (Netherlands)

    G. Goedhart; T.G.M. Vrijkotte; T.J. Roseboom; M.F. van der Wal; P. Cuijpers; G.J. Bonsel

    2010-01-01

    Maternal psychosocial problems may affect fetal growth through maternal cortisol. This large prospective cohort study examined among 2810 women (1) the association of maternal cortisol levels with offspring birthweight and small for gestational age (SGA) risk and (2) the mediating role of maternal c

  10. GESTATIONAL EXPOSURE TO NONYLPHENOL CAUSES PRECOCIOUS MAMMARY GLAND DEVELOPMENT IN FEMALE RAT OFFSPRING

    Science.gov (United States)

    This study examined whether or not exposure to 4-nonylphenol (NP) during late gestation affects reproductive and mammary development in the offspring of female rats. Time pregnant Long Evans rats were gavaged with NP (10 or 100 mg/kg), atrazine (ATR, 100 mg/kg), or corn oil on ge...

  11. Paternal age and offspring congenital heart defects

    DEFF Research Database (Denmark)

    Su, Xiu Juan; Yuan, Wei; Huang, Guo Ying;

    2015-01-01

    Paternal age has been associated with offspring congenital heart defects (CHDs), which might be caused by increased mutations in the germ cell line because of cumulated cell replications. Empirical evidences, however, remain inconclusive. Furthermore, it is unknown whether all subtypes of CHDs are.......17-2.43). We observed similar results when subanalyses were restricted to children born to mothers of 27-30 years old. After taking into consideration of maternal age, our data suggested that advanced paternal age was associated with an increased prevalence of one subtype of offspring congenital heart defects...

  12. Evaluation of Glycemic and Lipid Profile of Offspring of Diabetic Wistar Rats Treated with Malpighia emarginata Juice

    Directory of Open Access Journals (Sweden)

    Sandra M. Barbalho

    2011-01-01

    Full Text Available Knowing that maternal diabetes is related to hyperglycemia and fetal hyperinsulinemia, which affect the lipid metabolism, the aim of this study was to evaluate the effects of Malpighia emarginata (acerola juice on the glycemic and lipid profile of offspring of diabetic and nondiabetic Wistar rats. The adult offspring of non-diabetic dams and of dams with severe streptozotocin-induced diabetes were divided into groups: G1, offspring (of control dams treated with water, G2, offspring (of diabetic dams treated with water, G3, male offspring (of control dams treated with acerola juice, and G4, male offspring (of diabetic dams treated with acerola juice. The offspring of diabetic dams treated with acerola juice showed significantly decreased levels of glucose, cholesterol, triglycerides, and increased HDL-c. The use of acerola juice is a potential strategy to aid in the prevention of DM and dyslipidemia and its complications or to act as an auxiliary in the treatment of these diseases.

  13. 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. PMID:27183114

  14. 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...... 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...

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

    Directory of Open Access Journals (Sweden)

    Shahin Abdollahi Fakhim

    2016-03-01

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

  16. Frequency of homologous blood transfusion in patients undergoing cleft lip and palate surgery

    Directory of Open Access Journals (Sweden)

    Adeyemo Wasiu

    2010-01-01

    Full Text Available Aim: The study aims to determine the frequency of homologous blood transfusion in patientsundergoing cleft lip and palate surgery at the Lagos University Teaching Hospital, Nigeria. Setting and Design: A prospective study of transfusion rate in cleft surgery conducted at the Lagos University Teaching Hospital, Nigeria. Material and Methods: One hundred consecutive patients who required cleft lip and palate surgery were recruited into the study. Data collected included age, sex and weight of patients, type of cleft defects, type of surgery done, preoperative haematocrit, duration of surgery, amount of blood loss during surgery, the number of units of blood cross-matched and those used. Each patient was made to donate a unit of homologous blood prior to surgery. Results: There were 52 females and 48 males with a mean age of 64.4 ± 101.1 months (range, 3-420 months. The most common cleft defect was isolated cleft palate (45% followed by unilateral cleft lip (28%. Cleft palate repair was the most common procedure (45% followed by unilateral cleft lip repair (41%. The mean estimated blood loss was 95.8 ± 144.9 ml (range, 2-800ml. Ten (10% patients (CL=2; CP=5, BCL=1; CLP=2 were transfused but only two of these were deemed appropriate based on percentage blood volume loss. The mean blood transfused was 131.5 ± 135.4ml (range, 35-500ml. Six (60% of those transfused had a preoperative PCV of < 30%. Only 4.9% of patients who had unilateral cleft lip surgery were transfused as compared with 50% for CLP surgery, 11% for CP surgery, and 10% for bilateral cleft lip surgery. Conclusions: The frequency of blood transfusion in cleft lip and palate surgery was 10% with a cross-match: transfusion ratio of 10 and transfusion index of 0.1. A "type and screen" policy is advocated for cleft lip and palate surgery.

  17. 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

  18. Higher in vitro resistance to oxidative stress in extra-pair offspring.

    Science.gov (United States)

    Losdat, S; Helfenstein, F; Saladin, V; Richner, H

    2011-11-01

    Oxidative stress is considered to act as a universal physiological constraint in life-history evolution of animals. This should be of interest for extra-pair paternity behaviour, and we tested here the prediction that offspring arising from extra-pair matings of female great tits show higher resistance to oxidative stress than within-pair offspring. Resistance to oxidative stress, measured as the whole blood resistance to a controlled free-radical attack, was significantly higher for extra-pair offspring as predicted although these were not heavier or in better body condition than within-pair offspring. Since resistance to oxidative stress has been suggested to enhance survival and reproductive rates, extra-pair offspring with superior resistance to oxidative stress, be it through maternal effects or paternal inheritance, may achieve higher fitness and thus provide significant indirect fitness benefits to their mothers. In addition, because oxidative stress affects colour signals and sperm traits, females may also gain fitness benefits by producing sons that are more attractive (sexy-sons hypothesis) and have sperm of superior quality (sexy-sperm hypothesis). Heritability of resistance to oxidative stress as well as maternal effects may both act as proximate mechanisms for the observed result. Disentangling these two mechanisms would require an experimental approach. Future long-term studies should also aim at experimentally testing whether higher resistance to oxidative stress of EP nestlings indeed translates into fitness benefits to females. PMID:21899636

  19. 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 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 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

  20. Behavioral teratogenicity induced by maternal food restriction: maternal cannibalism and poor reflex development in offspring

    Directory of Open Access Journals (Sweden)

    Esther Lopes Ricci

    2014-06-01

    Full Text Available Recent studies have attributed the presence of several toxic chemicals during pregnancy to maternal malnutrition. A deficit in maternal nutritional status may be crucial for the development of teratogenicity. However, nowadays, the concept of teratogenesis is not restricted to structural abnormalities, but, also, to functional changes, such as, for instance, those observed in behavior. This study investigated the effects of maternal food restriction (FR during pregnancy on the physical, behavioral, and reflex development of offspring. Pregnant female rats underwent feed restriction at different levels (15, 40, 55, and 70% of the daily feed intake when compared to the control group, starting on gestation day 6 (GD6 until GD17; the control group received food ad libitum. After birth, the physical and neurobehavioral development of offspring were assessed. The results showed that, except for weight reduction, the physical development of offsprings from the FR groups did not differ from that of the control group. However, the experimental groups showed deficits in neurological reflexes, particularly with regard to negative geotaxis and palmar reflex. In general activity, the offspring of the FR group 40% (E40 and E55 showed low frequencies of locomotion and rearing and long periods of immobility. The results show that maternal FR during pregnancy promotes neurological disorders in offspring, but it does not affect physical development, showing the importance of behavioral assessments.

  1. 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.

  2. 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.

  3. Disruption of histone methylation in developing sperm impairs offspring health transgenerationally.

    Science.gov (United States)

    Siklenka, Keith; Erkek, Serap; Godmann, Maren; Lambrot, Romain; McGraw, Serge; Lafleur, Christine; Cohen, Tamara; Xia, Jianguo; Suderman, Matthew; Hallett, Michael; Trasler, Jacquetta; Peters, Antoine H F M; Kimmins, Sarah

    2015-11-01

    A father's lifetime experiences can be transmitted to his offspring to affect health and development. However, the mechanisms underlying paternal epigenetic transmission are unclear. Unlike in somatic cells, there are few nucleosomes in sperm, and their function in epigenetic inheritance is unknown. We generated transgenic mice in which overexpression of the histone H3 lysine 4 (H3K4) demethylase KDM1A (also known as LSD1) during spermatogenesis reduced H3K4 dimethylation in sperm. KDM1A overexpression in one generation severely impaired development and survivability of offspring. These defects persisted transgenerationally in the absence of KDM1A germline expression and were associated with altered RNA profiles in sperm and offspring. We show that epigenetic inheritance of aberrant development can be initiated by histone demethylase activity in developing sperm, without changes to DNA methylation at CpG-rich regions. PMID:26449473

  4. Maternal testosterone exposure increases anxiety-like behavior and impacts the limbic system in the offspring.

    Science.gov (United States)

    Hu, Min; Richard, Jennifer Elise; Maliqueo, Manuel; Kokosar, Milana; Fornes, Romina; Benrick, Anna; Jansson, Thomas; Ohlsson, Claes; Wu, Xiaoke; Skibicka, Karolina Patrycja; Stener-Victorin, Elisabet

    2015-11-17

    During pregnancy, women with polycystic ovary syndrome (PCOS) display high circulating androgen levels that may affect the fetus and increase the risk of mood disorders in offspring. This study investigated whether maternal androgen excess causes anxiety-like behavior in offspring mimicking anxiety disorders in PCOS. The PCOS phenotype was induced in rats following prenatal androgen (PNA) exposure. PNA offspring displayed anxiety-like behavior in the elevated plus maze, which was reversed by flutamide [androgen receptor (AR) blocker] and tamoxifen [selective estrogen receptor (ER) modulator]. Circulating sex steroids did not differ between groups at adult age. The expression of serotonergic and GABAergic genes associated with emotional regulation in the amygdala was consistent with anxiety-like behavior in female, and partly in male PNA offspring. Furthermore, AR expression in amygdala was reduced in female PNA offspring and also in females exposed to testosterone in adult age. To determine whether AR activation in amygdala affects anxiety-like behavior, female rats were given testosterone microinjections into amygdala, which resulted in anxiety-like behavior. Together, these data describe the anxiety-like behavior in PNA offspring and adult females with androgen excess, an impact that seems to occur during fetal life, and is mediated via AR in amygdala, together with changes in ERα, serotonergic, and GABAergic genes in amygdala and hippocampus. The anxiety-like behavior following testosterone microinjections into amygdala demonstrates a key role for AR activation in this brain area. These results suggest that maternal androgen excess may underpin the risk of developing anxiety disorders in daughters and sons of PCOS mothers. PMID:26578781

  5. Paternal alcohol exposure in mice alters brain NGF and BDNF and increases ethanol-elicited preference in male offspring.

    Science.gov (United States)

    Ceccanti, Mauro; Coccurello, Roberto; Carito, Valentina; Ciafrè, Stefania; Ferraguti, Giampiero; Giacovazzo, Giacomo; Mancinelli, Rosanna; Tirassa, Paola; Chaldakov, George N; Pascale, Esterina; Ceccanti, Marco; Codazzo, Claudia; Fiore, Marco

    2016-07-01

    Ethanol (EtOH) exposure during pregnancy induces cognitive and physiological deficits in the offspring. However, the role of paternal alcohol exposure (PAE) on offspring EtOH sensitivity and neurotrophins has not received much attention. The present study examined whether PAE may disrupt nerve growth factor (NGF) and/or brain-derived neurotrophic factor (BDNF) and affect EtOH preference/rewarding properties in the male offspring. CD1 sire mice were chronically addicted for EtOH or administered with sucrose. Their male offsprings when adult were assessed for EtOH preference by a conditioned place preference paradigm. NGF and BDNF, their receptors (p75(NTR) , TrkA and TrkB), dopamine active transporter (DAT), dopamine receptors D1 and D2, pro-NGF and pro-BDNF were also evaluated in brain areas. PAE affected NGF levels in frontal cortex, striatum, olfactory lobes, hippocampus and hypothalamus. BDNF alterations in frontal cortex, striatum and olfactory lobes were found. PAE induced a higher susceptibility to the EtOH rewarding effects mostly evident at the lower concentration (0.5 g/kg) that was ineffective in non-PAE offsprings. Moreover, higher ethanol concentrations (1.5 g/kg) produced an aversive response in PAE animals and a significant preference in non-PAE offspring. PAE affected also TrkA in the hippocampus and p75(NTR) in the frontal cortex. DAT was affected in the olfactory lobes in PAE animals treated with 0.5 g/kg of ethanol while no differences were found on D1/D2 receptors and for pro-NGF or pro-BDNF. In conclusion, this study shows that: PAE affects NGF and BDNF expression in the mouse brain; PAE may induce ethanol intake preference in the male offspring. PMID:25940002

  6. 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.

  7. 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.

  8. Offspring of parents with recurrent depression: which features of parent depression index risk for offspring psychopathology?

    OpenAIRE

    Mars, B.; Collishaw, S.; Smith, D.; Potter, R; Sellers, R; Harold, G.T.; Craddock, N; Rice, F.; Thapar, A

    2012-01-01

    Background: Parental depression is associated with an increased risk of psychiatric disorder in offspring, although outcomes vary. At present relatively little is known about how differences in episode timing, severity, and course of recurrentdepression relate to risk in children. The aim of this study was to consider the offspring of parents with recurrentdepression and examine whether a recent episode of parental depressionindexesrisk for offspringpsychopathology over and above these other ...

  9. 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 .

  10. 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

  11. 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.

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

    Science.gov (United States)

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

    2016-01-01

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

  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. Stability after Cleft Maxillary Distraction Osteogenesis or Conventional Orthognathic Surgery

    DEFF Research Database (Denmark)

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

    2015-01-01

    OBJECTIVES: To compare stability of maxillary advancements in patients with cleft lip and palate following distraction osteogenesis or orthognathic surgery. MATERIAL AND METHODS: INCLUSION CRITERIA: 1) cleft lip and palate, 2) advancement > 8 mm. Eleven patients comprised the distraction...... changed in CONVG. At follow-up (T3), VOB increased in CONVG compared with DOG, (P = 0.01). Vertical position of A point differed between the groups (P = 0.04). No significant intergroup differences between soft tissue parameters occurred. CONCLUSIONS: Distraction osteogenesis resulted in a stable position...... osteogenesis group (DOG). Seven patients comprised the orthognathic treatment group (CONVG). Skeletal and soft tissue points were traced on lateral cephalograms: T1 (preoperatively), T2 (after surgery), T3 (follow-up). Group differences were analyzed using Students t-test. RESULTS: At T1-T2, advancement of 6...

  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. 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...... palate group showing the most significant result (P = 0.01). We did not find evidence for involvement of skewed XCI in the discordance for clefting in our sample of female MZ twins. However, results from the paired sister study suggest the potential contribution of skewed XCI to orofacial clefting......, particularly cleft lip and palate....

  18. Feeding obturator appliance for an infant with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    P Chandna

    2011-01-01

    Full Text Available Clefts of the palate, alveolus and lip are some of the most frequently encountered anomalies of the face. This article presents a case report of a neonate with cleft lip and palate in whom a feeding obturator was delivered. This article demonstrates the indications, construction, and benefits of a palatal obturator in an 11-day-old infant with a bilateral cleft lip and palate.

  19. Bone and Soft Tissue Changes after Two-Jaw Surgery in Cleft Patients

    OpenAIRE

    Yun, Yung Sang; Uhm, Ki Il; Kim, Jee Nam; Shin, Dong Hyeok; Choi, Hyun Gon; Kim, Soon Heum; Kim, Cheol Keun; Jo, Dong In

    2015-01-01

    Background Orthognathic surgery is required in 25% to 35% of patients with a cleft lip and palate, for whom functional recovery and aesthetic improvement after surgery are important. The aim of this study was to examine maxillary and mandibular changes, along with concomitant soft tissue changes, in cleft patients who underwent LeFort I osteotomy and sagittal split ramus osteotomy (two-jaw surgery). Methods Twenty-eight cleft patients who underwent two-jaw surgery between August 2008 and Nove...

  20. A Rathke's Cleft Cyst with Chronic Inflammation Mimicking a Pituitary Macroadenoma

    Energy Technology Data Exchange (ETDEWEB)

    Choo, Ka Yeon; Choi, Hyun Seok; Jung, So Lyung; Kim, Bum Soo; Ahn, Kook In [Dept. of Radiology, Seoul St.Mary' s Hospital, The Catholic University of Korea College of Medicine, Seoul (Korea, Republic of); Jeon, Shin Soo; Hong, Yong Kil [Dept. of Neurosurgery, Seoul St.Mary' s Hospital, The Catholic University of Korea College of Medicine, Seoul (Korea, Republic of)

    2011-11-15

    Rathke's cleft cyst is a benign cystic lesion arising in the sellar or suprasellar region. Most cases of Rathke's cleft cysts are thin-walled cystic lesions, but in rare cases, can cause a pituitary abscess by inflammation or infection. We report on a case of Rathke's cleft cyst with chronic inflammation mimicking a pituitary macroadenoma seen as a thick-walled irregular cystic lesion on brain CT and MRI.

  1. Risk factor for pituitary dysfunction in children and adolescents with Rathke's cleft cysts

    OpenAIRE

    Lim, Han Hyuk; Yang, Sei Won

    2010-01-01

    Purpose This study evaluated the clinical manifestations of and risk factors for pituitary insufficiency in children and adolescents with Rathke's cleft cysts. Methods Forty-four patients with Rathke's cleft cysts younger than 19 years who visited Seoul National University Children's Hospital between January 1995 and September 2009 were enrolled. Rathke's cleft cysts were confirmed histologically through an operation in 15 patients and by brain magnetic resonance imaging (MRI) in 29 patients....

  2. Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

    OpenAIRE

    P K Shivaprakash; Joshi, Hrishikesh V.; Hina Noorani; Venugopal Reddy

    2012-01-01

    Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approa...

  3. Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dysplasia-cleft syndrome: a case report

    OpenAIRE

    Metwalley Kalil Kotb; Fargalley Hekma

    2012-01-01

    Abstract Introduction Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900) is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate). Holoprosencephaly denotes a failure in the division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemisphere. The association between ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome and holoprosencephaly is very rare. Here we report h...

  4. [Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity].

    Science.gov (United States)

    Meza Escobar, Luis Enrique; Isaza, Carolina; Pachajoa, Harry

    2012-10-01

    The ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome is a rare entity associated with mutations in the genes that express the protein p63. We present a case of a patient with right foot ectrodactyly associated with cleft lip and palate, without other evident anomalies. The patient has a positive familiar history for cleft lift and palate and mortality during the perinatal period. The management of each case must be specific and multidisciplinary. PMID:23070194

  5. 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.

  6. Presurgical nasoalveolar molding in unilateral cleft lip and palate

    Science.gov (United States)

    Hegde, Rahul J.; Kharkar, Viraj R.; Kamath, Shamika

    2015-01-01

    Unilateral cleft lip and palate (UCLP) patients have an esthetic and functional compromise of the middle third of the face and nasal structures. To improve the esthetic result of lip repair, the concept of presurgical nasoalveolar molding (PNAM) was brought into conception. PNAM is an easy and passive method of bringing the alveolus and lips together by redirecting the forces of natural growth. This case report documents a 2-year follow-up of PNAM in UCLP. PMID:26681868

  7. 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.

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

    Science.gov (United States)

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

    2016-01-01

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

  9. 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.

  10. Social motivation in individuals with isolated cleft lip and palate

    OpenAIRE

    van der Plas, Ellen; Koscik, Timothy R.; Conrad, Amy L.; Moser, David; Nopoulos, Peg

    2013-01-01

    Social isolation is common among individuals with isolated cleft lip and palate (ICLP), but the available data on why this may be are mixed. We present a novel theory relating to reduced social motivation in ICLP, called the social abulia hypothesis. Based on this hypothesis, we predicted that reduced social motivation would lead to reduced responsiveness to negative social feedback, both in terms of explicit responses and non-controlled, psychophysiological responses.

  11. 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.

  12. Strategies for Treating Compensatory Articulation in Patients with Cleft Palate

    OpenAIRE

    Del Carmen Pamplona, Maria; Ysunza, Antonio; Morales, Santiago

    2014-01-01

    Patients with cleft palate frequently show compensatory articulation (CA). CA requires a prolonged period of speech intervention. Some scaffolding strategies can be useful for correcting placement and manner of articulation in these cases. The purpose of this paper was to study whether the use of specific strategies of speech pathology can be more effective if applied according to the level of severity of CA. Ninety patients with CA were studied in two groups. One group was treated using stra...

  13. Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome)

    OpenAIRE

    Mohita Marwaha; Kanwar Deep Singh Nanda

    2012-01-01

    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.

  14. 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.

  15. 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.

  16. The Essential Anatomical Subunit Approximation Unilateral Cleft Lip Repair.

    Science.gov (United States)

    Chong, David K; Swanson, Jordan W

    2016-07-01

    The anatomical subunit approximation cleft lip repair advantageously achieves a balanced lip contour, with the line of repair hidden along seams of aesthetic subunits. Dr. David Fisher's original description of the repair reflects the considerable thought that went into the evolution of his design. As his technique has gained acceptance in the intervening 10 years, the authors note several key principles embodied in it that represent a shift in the cleft lip repair paradigm. The authors believe understanding these principles is important to mastery of the anatomical subunit technique, and facilitate its teaching. First, design a plan that adheres to anatomical subunits and perform measurements precisely. Second, identify and adequately release each cleft tissue layer from the lip and nose to enable restoration of balance. Third, drive surgical approximation through inset of the lateral muscle into the superiorly backcut medial orbicularis muscle, followed by skin closure with inferior triangle interposition above the white roll. In this article, the authors present essential components of the technique, and identify several principles that enable its successful execution. PMID:27348690

  17. Kyphosis reduction and the rate of cement leaks after vertebroplasty of intravertebral clefts

    Energy Technology Data Exchange (ETDEWEB)

    Krauss, Martin; Tomandl, Bernd; Baer, Ingrid [Klinikum Sued, Institute for Diagnostic and Interventional Radiology, Nuernberg (Germany); Hirschfelder, Horst; Lichti, Gabriele [Klinikum Sued, Department of Physical and Rehabilitative Medicine, Nuernberg (Germany)

    2006-05-15

    To assess the results of vertebroplasty in patients with intravertebral clefts compared to patients with normal osteoporotic fractures, we evaluated the pre- and postoperative images and pain scores (VAS) of 114 patients with 192 vertebroplasty procedures treated between March 2002 and February 2005. Intravertebral clefts were identified on conventional radiographs, MR or CT images as gas- or fluid-filled spaces adjacent to an endplate of a fractured vertebra. Forty-four vertebrae showed intravertebral clefts. All clefts were filled with PMMA showing a typical filling pattern. Due to the prone positioning of the patient during vertebroplasty, a significant reduction of the kyphosis angle was achieved in the cleft group. Cement leakage occurred in 18.2% of clefts and 46% of regular osteoporotic fractures. In all patients, good filling of the cleft was achieved no matter where the needle tip was placed in the vertebra. The VAS score was 9.1 preoperatively, 3.6 before discharge and 3.9 6 months postoperatively, showing no significant difference between both groups. Patients with intravertebral clefts show a significant reduction of the kyphosis angle compared to non-cleft patients and have a significantly lower risk of experiencing cement leakage during vertebroplasty. Pain reduction is the same in both groups. (orig.)

  18. 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.

  19. 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

  20. IRF6 polymorphisms in Mexican patients with non-syndromic cleft lip

    Science.gov (United States)

    Ibarra-Arce, Aurora; García-Álvarez, Martín; Cortés-González, Daniel; Ortiz de Zarate-Alarcón, Gabriela; Flores-Peña, Laura; Sánchez-Camacho, Sandra; Arenas-Díaz, Silvia; Romero-Valdovinos, Mirza; Olivo-Díaz, Angélica

    2015-01-01

    Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects; it is a multifactorial disease affecting > 1/1,000 live births in Europe, and its etiology is largely unknown, although it is very likely genetic and environmental factors contribute to this malformation. Orofacial development is a complex process involving many genes and signaling pathways. Mutations in the gene for the interferon regulatory factor 6 (IRF6) cause a hereditary dominant malformation syndrome including CL/P, and polymorphisms are associated with non-syndromic CL/P (MIM 119530). Five SNPs at the locus with high heterozygosity in Caucasian populations were chosen for the present research due to their very strong association with CL/P. A case–parent trio study was performed using 292 samples from Mexico. Association with the rs1319435-C/C genotype (P = 0.02) was found in patients (73) as compared to pseudocontrols (219), while the genotype rs1319435-T/C was related with protection (P = 0.041) in the triad design. Significant over-transmission of the G allele for marker rs2235375 (P = 0.049) was found. Only the TACGT haplotype was diminished in the affected child, either in single (P = 0.0208) or double (P = 0.0208) dose. The pairwise analysis showed rs2235543 and rs2235371 were in strong linkage disequilibrium. These results point to a substantial contribution of IRF6 in the etiology of non-syndromic CL/P in a sample of the Mexican population. PMID:25853057

  1. Perinatal nicotine exposure induces asthma in second generation offspring

    Directory of Open Access Journals (Sweden)

    Rehan Virender K

    2012-10-01

    Full Text Available Abstract Background By altering specific developmental signaling pathways that are necessary for fetal lung development, perinatal nicotine exposure affects lung growth and differentiation, resulting in the offsprings' predisposition to childhood asthma; peroxisome proliferator-activated receptor gamma (PPARγ agonists can inhibit this effect. However, whether the perinatal nicotine-induced asthma risk is restricted to nicotine-exposed offspring only; whether it can be transmitted to the next generation; and whether PPARγ agonists would have any effect on this process are not known. Methods Time-mated Sprague Dawley rat dams received either placebo or nicotine (1 mg/kg, s.c., once daily from day 6 of gestation to postnatal day (PND 21. Following delivery, at PND21, generation 1 (F1 pups were either subjected to pulmonary function tests, or killed to obtain their lungs, tracheas, and gonads to determine the relevant protein markers (mesenchymal contractile proteins, global DNA methylation, histone 3 and 4 acetylation, and for tracheal tension studies. Some F1 animals were used as breeders to generate F2 pups, but without any exposure to nicotine in the F1 pregnancy. At PND21, F2 pups underwent studies similar to those performed on F1 pups. Results Consistent with the asthma phenotype, nicotine affected lung function in both male and female F1 and F2 offspring (maximal 250% increase in total respiratory system resistance, and 84% maximal decrease in dynamic compliance following methacholine challenge; P P P > 0.05, F1 versus F2, but only affected tracheal constriction in males (51% maximal increase in tracheal constriction following acetylcholine challenge, P P P > 0.05, F1 versus F2; nicotine also increased the contractile protein content of whole lung (180% increase in fibronectin protein levels, P P P P P P Conclusions Germline epigenetic marks imposed by exposure to nicotine during pregnancy can become permanently programmed and transferred

  2. 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.

  3. Brain circuitry outside the synaptic cleft

    OpenAIRE

    Rusakov, Dmitri A.; Alexander E Dityatev

    2014-01-01

    A growing body of experimental evidence suggests that astroglia, and possibly microglia, play an important part in regulating synaptic networking of the brain. It has also emerged that extracellular matrix (ECM) structures that enwrap synaptic connections can generate molecular signals affecting both neuronal and glial activity. Thus it appears that the mechanism of information processing in the brain, which has hitherto been associated almost exclusively with neural circuits, could also invo...

  4. 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.

  5. 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

  6. 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...

  7. 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)...

  8. 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...

  9. Transmission of stress-induced learning impairment and associated brain gene expression from parents to offspring in chickens.

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    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. 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.

  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. 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

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

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    Mueller AA

    2014-10-01

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

  15. Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting.

    Science.gov (United States)

    Takenouchi, Toshiki; Okuno, Hironobu; Kosaki, Rika; Ariyasu, Daisuke; Torii, Chiharu; Momoshima, Suketaka; Harada, Naoki; Yoshihashi, Hiroshi; Takahashi, Takao; Awazu, Midori; Kosaki, Kenjiro

    2012-10-01

    The combination of holoprosencephaly and ectrodactyly, also known as Hartsfield syndrome, represents a unique genetic entity. An X-linked recessive mode of transmission has been suggested for this condition based on the observation that male patients have preferentially been affected. Thus far, no candidate genes have been suggested on the X chromosome. We report a male patient with a full-blown Hartsfield syndrome phenotype who had microduplication at Xq24 involving four genes. He presented with bilateral ectrodactyly of the hands (both hands had four fingers with a deep gap between the 2nd and 3rd digits), cleft lip and palate, and a depressed nasal bridge. Magnetic resonance imaging of the brain revealed lobar holoprosencephaly. His G-banded karyotype was normal. Array comparative genomic hybridization (CGH) using the Agilent 244K Whole Human Genome CGH array revealed a microduplication at Xq24 of 210 kb. Parental testing revealed that the deletion was derived from the asymptomatic mother. Of the genes on the duplicated interval, the duplications of SLC25A43 and SLC25A5 appeared to be the most likely to explain the patient's phenotype. From a clinical standpoint, it is important to point out that the propositus, who performs relatively well with holoprosencephaly and has a developmental quotient around 70, has survived multiple life-threatening episodes of hypernatremia. Awareness of the risk of hypernatremia is of great importance for the anticipatory management of patients with ectrodactyly and an oral cleft, even in the absence of overt hypotelorism. PMID:22887648

  16. Syntactic Structure and Information Structure: The Acquisition of Portuguese Clefts and "Be"-Fragments

    Science.gov (United States)

    Lobo, Maria; Santos, Ana Lúcia; Soares-Jesel, Carla

    2016-01-01

    This article investigates the acquisition of different types of clefts and of "be"-fragments in European Portuguese. We first present the main syntactic and discourse properties of different cleft structures and of "be"-fragments in European Portuguese, and we discuss how data from first language acquisition may contribute to…

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

    Science.gov (United States)

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

    2015-01-01

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

  18. Lip movement in patients with a history of unilateral cleft lip.

    NARCIS (Netherlands)

    Rutjens, C.A.W.; Spauwen, P.H.M.; Lieshout, P.H.H.M. van

    2001-01-01

    OBJECTIVE: The influence of a repaired cleft lip on the stability of coordination between upper and lower lip in nonspeech and speech tasks was investigated. DESIGN: First, we looked at the effects of a secondary cleft lip repair in three individuals. Second, we compared subjects with a history of r

  19. 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

  20. 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

  1. Morbidity of chin bone transplants used for reconstructing alveolar defects in cleft patients

    NARCIS (Netherlands)

    Booij, A; Raghoebar, GM; Jansma, J; Kalk, WWI; Vissink, A

    2005-01-01

    Objective: The aim of this study was to evaluate the objective and subjective morbidity of symphyseal chin bone harvesting used for reconstruction of alveolar defects in young cleft patients. Design: All patients who had undergone chin bone harvesting for alveolar cleft reconstruction in the period

  2. 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.…

  3. 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

  4. 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…

  5. Risk of Breast Cancer in Families with Cleft Lip and Palate

    DEFF Research Database (Denmark)

    Dietz, Alexander; Pedersen, Dorthe Almind; Jacobsen, Rune;

    2012-01-01

    PURPOSE: To test whether female subjects in families with cleft lip and/or palate (CL/P) have an increased risk of breast cancer. METHODS: By using the Danish Facial Cleft Registry, we identified female subjects with CL/P, mothers of children with CL/P, and sisters to CL/P cases for the Danish...

  6. Maternal Risk Factors for Oral Clefts: A Case-Control Study

    Directory of Open Access Journals (Sweden)

    Mohammad Jafar Golalipour

    2011-01-01

     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.

  7. 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...

  8. Verbal Competence in Narrative Retelling in 5-Year-Olds with Unilateral Cleft Lip and Palate

    Science.gov (United States)

    Klintö, Kristina; Salameh, Eva-Kristina; Lohmander, Anette

    2015-01-01

    Background: Research regarding expressive language performance in children born with cleft palate is sparse. The relationship between articulation/phonology and expressive language skills also needs to be further explored. Aims: To investigate verbal competence in narrative retelling in 5-year-old children born with unilateral cleft lip and palate…

  9. 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.

  10. CT findings in symptomatic Rathke's cleft cysts of the pituitary gland

    International Nuclear Information System (INIS)

    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. (orig.)

  11. 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.

  12. Dental maturity in children with a complete bilateral cleft lip and palate.

    NARCIS (Netherlands)

    Heidbüchel, K.L.W.M.; Kuijpers-Jagtman, A.M.; Ophof, R.; Hooft, R.J. van

    2002-01-01

    OBJECTIVE: Dental age in children with a bilateral cleft lip and palate (BCLP) was assessed and compared with children without cleft. DESIGN: Dental age was estimated for 74 children with a complete BCLP (54 boys and 20 girls) from 364 orthopantomograms. Nonlinear regression curves were made between

  13. Basal sphenoethmoidal encephalocele in association with midline cleft lip and palate: case report

    Energy Technology Data Exchange (ETDEWEB)

    Holanda, Maurus Marques de Almeida; Rocha, Artur Bastos; Santos, Rayan Haquim Pinheiro [Universidade Federal da Paraiba (UFPB), Joao Pessoa, PB (Brazil); Furtado, Paulo Germano Cavalcanti [Universidade Federal da Paraiba (UFPB), Joao Pessoa, PB (Brazil). Dept. de Pediatria e Genetica

    2011-11-15

    Association of basal sphenoethmoidal encephalocele with midline cleft lip and palate is extremely rare. The authors report the case of a nine-year-old girl presenting a midline facial cleft with meningocele that was noticeable through the palatine defect as a medial intranasal pulsatile mass. An analysis of clinical and radiological findings of the present case of cranial dysraphism is carried out. (author)

  14. The Impact of Early Intervention on Speech and Lexical Development for Toddlers with Cleft Palate: A Retrospective Look at Outcome

    Science.gov (United States)

    Hardin-Jones, Mary; Chapman, Kathy L.

    2008-01-01

    Purpose: The purpose of the present investigation was to examine the impact of early intervention on speech and lexical measures for toddlers with cleft palate. Method: Speech measures of ten 27-month-old toddlers with cleft palate who had been referred for therapy at 17 months of age were compared to those of 10 toddlers with cleft palate who had…

  15. 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.

  16. 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. PMID:27245335

  17. Presurgical orthodontic treatment of patients with complete bilateral cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Radojičić Julija

    2014-01-01

    Full Text Available Introduction. Cleft lips and palates are the most common congenital orofacial anomaly. This type of clefts is the most severe from the orthodontic-surgical therapy aspect. Case report. A female newborn with a complete cleft of the primary and the secondary palate was admitted to the clinic, where a multiple-role orthodontic device was specially designed and applied to primarily manage the closure of the existing cleft and help to improve the suckling ability of the baby. Besides the fact that it allows breastfeeding, it has a significant orthodontic effect, too. Conclusion. Specificity of this device is the lack of extraoral fixation. What can easily be observed is a progressive reduction of the cleft between the separated segments and the premaxilla retrusion. It, thus, allows the creation of much better conditions for further surgical management of the said defect.

  18. Effects of infant cleft lip on adult gaze and perceptions of 'cuteness'

    DEFF Research Database (Denmark)

    Rayson, Holly; Parsons, Christine E.; Young, Katherine S.;

    2016-01-01

    Objective: Early mother-infant interactions are impaired in the context of infant cleft lip, and are associated with adverse child psychological outcomes, but the nature of these interaction difficulties is not yet fully understood. The aim of this study was to explore adult gaze behaviour and...... cuteness perception, which are particularly important during early social exchanges, in response to infants with cleft lip, in order to investigate potential foundations for the interaction difficulties seen in this population. Methods: Using an eye-tracker, eye movements were recorded as adult...... participants viewed images of infant faces with and without cleft lip. Participants also rated each infant on a scale of cuteness. Results: Participants fixated significantly longer on the mouths of infants with cleft lip, which occurred at the expense of fixation on eyes. Severity of cleft lip was associated...

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

    Directory of Open Access Journals (Sweden)

    Buket Uysal Aladag

    2013-06-01

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

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

    DEFF Research Database (Denmark)

    Willadsen, Elisabeth; Albrechstn, Helle

    2006-01-01

    Objective: To investigate prelinguistic vocalization sequences of 1-year-old children with and without cleft lip and palate. Design: Prospective study. Participants: Thirty-eight children born with unilateral cleft lip and palate and 36 control children born without clefts. The cleft children had...... the lip, soft palate, and posterior part of the hard palate repaired at 4 months of age. The lip was closed ad modum Millard, the nose was corrected according to McComb, and the soft palate was closed with a posteriorly based vomer flap. Methods: Data were obtained from a clinical visit during which...... of occurrence of nasal contoids and a smaller frequency of occurrence of alveolar contoids in the cleft group. Canonical babbling was achieved by most children in both groups, and no significant difference was found between the groups. Conclusions: Early closure of the soft palate seems to have a positive...

  1. Maternal age at maturation underpins contrasting behavior in offspring

    Science.gov (United States)

    Robertsen, Grethe; Stewart, David C.; McKelvey, Simon; Armstrong, John D.; Metcalfe, Neil B.

    2016-01-01

    In species where parental care occurs primarily via the provisioning of eggs, older females tend to produce larger offspring that have better fitness prospects. Remarkably however, a relationship between age of mother and fitness of offspring has also been reported independently of effects on offspring size suggesting that there may be other factors at play. Here, using experimental matings between wild Atlantic salmon that differed in their age at sexual maturation, we demonstrate distinct size-independent variation in the behavior of their offspring that was related to the maturation age of the mother (but not the father). We found that when juvenile salmon were competing for feeding territories, offspring of early-maturing mothers were more aggressive than those of late-maturing mothers, but were out-competed for food by them. This is the first demonstration of a link between natural variation in parental age at maturation and variation in offspring behavior.

  2. Maternal age at maturation underpins contrasting behavior in offspring

    Science.gov (United States)

    Robertsen, Grethe; Stewart, David C.; McKelvey, Simon; Armstrong, John D.; Metcalfe, Neil B.

    2016-01-01

    In species where parental care occurs primarily via the provisioning of eggs, older females tend to produce larger offspring that have better fitness prospects. Remarkably however, a relationship between age of mother and fitness of offspring has also been reported independently of effects on offspring size suggesting that there may be other factors at play. Here, using experimental matings between wild Atlantic salmon that differed in their age at sexual maturation, we demonstrate distinct size-independent variation in the behavior of their offspring that was related to the maturation age of the mother (but not the father). We found that when juvenile salmon were competing for feeding territories, offspring of early-maturing mothers were more aggressive than those of late-maturing mothers, but were out-competed for food by them. This is the first demonstration of a link between natural variation in parental age at maturation and variation in offspring behavior. PMID:27656083

  3. Enhanced Nephrogenesis In Offspring of Water Restricted Rat Dams

    Science.gov (United States)

    Mansano, Roy; Desai, Mina; Garg, Ambica; Choi, Gyu Yeon; Ross, Michael G.

    2008-01-01

    Objective Maternal water restriction (WR) may induce offspring plasma hypertonicity and enhanced vasopressin secretory responses. We determined effects of pregnancy WR on offspring body composition, renal morphology and blood pressure. Study Design Pregnant Sprague Dawley rats (n=21) were randomized to WR, pair-fed (PF) and control from embryo day (e) 10–21. Offspring body and organ weights and glomelular number and size were measured at birth and at 21 days of age. At 6 and 9 weeks, offspring blood pressure was determined. Results At 21 days of age, WR offspring glomerular number was increased (17%; p<0.05), while PF glomerular number was lower (4%) compared to controls. Systolic blood pressures were elevated in both WR and PF at both 6 and 9 weeks. Conclusions Pregnancy WR stimulates offspring nephrogenesis, suggesting an adaptive response to future dehydration. Programmed hypertension in WR and PF groups likely occurs via different mechanisms. PMID:17466712

  4. Chemical exposure during pregnancy and oral clefts in newborns

    Directory of Open Access Journals (Sweden)

    Leite Isabel Cristina Gonçalves

    2002-01-01

    Full Text Available This article presents a literature review on the risk factors for oral clefts (lip and/or palate, emphasizing discussion of maternal exposure to endocrine disruptors. Several studies have identified the risk of cigarette smoking and alcohol consumption, use of anticonvulsivant drugs, and exposure to organic solvents. A protective effect has been shown for supplementation with folic acid. As with other chemicals, the risk associated with exposure to sex hormones is still obscure, although some authors describe a moderate risk level. New studies addressing this hypothesis need to be conducted, while the population exposed to these endocrine disrupters is increasing.

  5. Chemical exposure during pregnancy and oral clefts in newborns

    Directory of Open Access Journals (Sweden)

    Isabel Cristina Gonçalves Leite

    2002-02-01

    Full Text Available This article presents a literature review on the risk factors for oral clefts (lip and/or palate, emphasizing discussion of maternal exposure to endocrine disruptors. Several studies have identified the risk of cigarette smoking and alcohol consumption, use of anticonvulsivant drugs, and exposure to organic solvents. A protective effect has been shown for supplementation with folic acid. As with other chemicals, the risk associated with exposure to sex hormones is still obscure, although some authors describe a moderate risk level. New studies addressing this hypothesis need to be conducted, while the population exposed to these endocrine disrupters is increasing.

  6. The ionospheric heating beneath the magnetospheric cleft revisited

    Directory of Open Access Journals (Sweden)

    G. W. Prölss

    2005-03-01

    Full Text Available A prominent peak in the electron temperature of the topside ionosphere is observed beneath the magnetospheric cleft. The present study uses DE-2 data obtained in the Northern Winter Hemisphere to investigate this phenomenon. First, the dependence of the location and magnitude of the temperature peak on the magnetic activity is determined. Next, using a superposed epoch analysis, the mean latitudinal profile of the temperature enhancement is derived. The results of the present study are compared primarily with those obtained by Titheridge (1976, but also with more recent observations and theoretical predictions.

  7. Maternal effects and population regulation: maternal density-induced reproduction suppression impairs offspring capacity in response to immediate environment in root voles Microtus oeconomus.

    Science.gov (United States)

    Bian, Jiang-Hui; Du, Shou-Yang; Wu, Yan; Cao, Yi-Fan; Nie, Xu-Heng; He, Hui; You, Zhi-Bing

    2015-03-01

    The hypothesis that maternal effects act as an adaptive bridge in translating maternal environments into offspring phenotypes, and thereby affecting population dynamics has not been studied in the well-controlled fields. In this study, the effects of maternal population density on offspring stress axis, reproduction and population dynamics were studied in root voles (Microtus oeconomus). Parental enclosures for breeding offspring were established by introducing six adults per sex into each of 4 (low density) and 30 adults per sex into each of another 4 (high density) enclosures. Live-trapping started 2 weeks after. Offspring captured at age of 20-30 days were removed to the laboratory, housed under laboratory conditions until puberty, and subsequently used to establish offspring populations in these same enclosures, after parental populations had been removed. [Correction added on 8 January 2015 after first online publication: '10-20 days' has been changed to '20-30 days.'] Offspring from each of the two parental sources were assigned into four enclosures with two for each of the two density treatments used in establishing parental populations (referred to as LL and LH for maternally unstressed offspring, assigned in low and high density, and HL and HH for maternally stressed offspring, assigned in low and high density). Faecal corticosterone metabolites (FCM) levels, offspring reproduction traits and population dynamics were tested following repeated live-trapping over two seasons. Differential fluctuations in population size were observed between maternally density-stressed and density-unstressed offspring. Populations in LL and LH groups changed significantly in responding to initial density and reached the similar levels at beginning of the second trapping season. Populations in HL and HH groups, however, were remained relatively steady, and in HL group, the low population size was sustained until end of experiment. Maternal density stress was associated with

  8. Surgical outcome and complications following cleft lip and palate repair in a teaching hospital in Nigeria

    Directory of Open Access Journals (Sweden)

    Taiwo O Abdurrazaq

    2013-01-01

    Full Text Available Background: Measurement of treatment outcome is important in estimating the success of cleft management. The aim of this study was to assess the surgical outcome of cleft lip and palate surgery. Patients and Methods: The surgical outcome of 131 consecutive patients with cleft lip and palate surgeries between October 2008 and December 2010 were prospectively evaluated at least 4 weeks postoperatively. Data collected included information about the age, sex, type of cleft defects, and type of surgery performed as well as postoperative complications. For cleft lip repair, the Pennsylvania lip and nose (PLAN score was used to assess the surgical outcome, while the integrity of the closure was used for cleft palate repair. Results: A total of 92 patients had cleft lip repair and 64 had palate repair. Overall, 68.8% cases of cleft lip and palate repair had good outcomes; 67.9% of lip repairs had good lip and nose scores, while 70.2% of palatal repair had a good surgical outcome. Oro-fistula was observed in 29.8% of cleft palate repairs Inter-rater reliability coefficient was substantially significant. Conclusions: The fact that 25.7% of those treated were aged >1 year suggests a continued need to enlighten the public on the availability of cleft lip and palate expertise and treatment. Although an overall good treatment outcome was demonstrated in this study, the nasal score was poorer than the lip score. Complication rate of about 14% following surgical repair is consistent with previous reports in the literature.

  9. Begging and bleating: the evolution of parent-offspring signalling.

    OpenAIRE

    Godfray, H. C.; Johnstone, R A

    2000-01-01

    The evolution of biological signalling in the face of evolutionary conflicts of interest is an active area of evolutionary ecology, and one to which Maynard Smith has made important contributions. We explore the major theoretical challenges in the field, concentrating largely on how offspring signal to their parents when there is the potential for parent-offspring conflict. Costly offspring solicitation (begging etc.) has been interpreted in terms of a Zahavi Grafen honest handicap signal, bu...

  10. Intergenerational continuity and discontinuity in cognitive ability: the first offspring of the British 1946 birth cohort

    OpenAIRE

    Byford, M

    2009-01-01

    Cognitive development in childhood is a key factor affecting adult life chances, including educational and occupational success. Intergenerational continuity in cognitive ability is often observed. Thus the persistence of poor cognitive outcomes across generations may lead to a ‘cycle of disadvantage’ that is difficult to break. In this thesis, intergenerational associations in cognitive ability between parents and first-born offspring were examined longitudinally. 1,690 member...

  11. The Effect of Maternal Stress Activation on the Offspring during Lactation in Light of Vasopressin

    OpenAIRE

    Anna Fodor; Dóra Zelena

    2014-01-01

    Although it is obvious that preconceptional effects as well as stressors during pregnancy profoundly influence the progeny, the lactation period seems to be at least as important. Here we summarize how maternal stressors during the lactation period affect the offspring. As vasopressin is one of the crucial components both for stress adaptation and social behavior, special emphasis was given to this neuropeptide. We can conclude that stressing the mother does not have the same acute effect on ...

  12. Maternal Stress Induces Epigenetic Signatures of Psychiatric and Neurological Diseases in the Offspring

    OpenAIRE

    Zucchi, Fabiola C. R.; Youli Yao; Ward, Isaac D.; Yaroslav Ilnytskyy; Olson, David M; Karen Benzies; Igor Kovalchuk; Olga Kovalchuk; Metz, Gerlinde A. S.

    2013-01-01

    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 gesta...

  13. Prenatal Counseling, Ultrasound Diagnosis, and the Role of Maternal-Fetal Medicine of the Cleft Lip and Palate Patient.

    Science.gov (United States)

    James, Jeffrey N; Schlieder, Daniel W

    2016-05-01

    A multidisciplinary team is the standard of care and the cornerstone of management of cleft patients. With readily improving advanced diagnostic modalities, early prenatal diagnosis of cleft lip and palate increasingly becomes a topic of importance for both the team caring for and families of cleft patients. Maternal-fetal medicine is a fellowship subspecialty of obstetrics that can offer high-quality care and coordination to the cleft team. Both 3-D and 4-D sonography lead to early prenatal diagnosis of cleft patients; however, differences in training result in variations in its diagnostic accuracy. PMID:26928557

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

    Directory of Open Access Journals (Sweden)

    Daniella Reis Barbosa Martelli

    2012-10-01

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

  15. [Presentation of a flap web space laterodigital in cleft foot].

    Science.gov (United States)

    Szwebel, J; Haddad, R; Mitrofanoff, M

    2012-08-01

    Cleft foot deformity is characterized by the absence of one or more median rays of the foot. This rare polymorphous congenital anomaly occurs more frequently in males, with a frequent autosomal dominant type of transmission. The purpose of surgical treatment is to narrow the width of the foot, but also to improve its global aesthetic look. Toe reparation, and more specifically web space reconstruction, provide the main technical challenges. We present an adaptation to the foot of a laterodigital cutaneous flap published by Barsky in 1964 for commissural reconstruction in cleft hand syndroms. The anatomical structure of fingers and toes commisures being different, this flap seems more adapted to the surgery of the foot. We gathered seven patients' files treated for ectrodactyly of the foot with this technique by the same surgeon from 2005 to 2008. No particular postoperative complications were noted, and the patients all expressed their satisfaction regarding the improvement of the appearance of their foot. We recommend to add the use of this flap in the "tool box" of the surgeon in charge of the management of foot deformities. PMID:20947236

  16. Preeclampsia and risk for epilepsy in offspring

    DEFF Research Database (Denmark)

    Wu, Chunsen; Sun, Yuelian; Vestergaard, Mogens;

    2008-01-01

    OBJECTIVE: Eclampsia has been found to be a strong risk factor for epilepsy in the offspring, but it is unclear whether the risk also applies to the preceding condition, preeclampsia. METHODS: We conducted a population-based cohort study of 1537860 singletons born in Denmark (1978-2004). Informat......OBJECTIVE: Eclampsia has been found to be a strong risk factor for epilepsy in the offspring, but it is unclear whether the risk also applies to the preceding condition, preeclampsia. METHODS: We conducted a population-based cohort study of 1537860 singletons born in Denmark (1978......-2004). Information on preeclampsia (mild, severe, and unspecified), eclampsia, and epilepsy was obtained from the Danish National Hospital Register. Information on gestational age, birth weight, and Apgar score was obtained from the Danish Medical Birth Registry. We used Cox proportional hazard models to estimate...... the incidence rate ratio of epilepsy for children who were exposed to preeclampsia or eclampsia in prenatal life. RESULTS: We identified 45288 (2.9%) children who were exposed to preeclampsia (34823 to mild, 7043 to severe, and 3422 to unspecified preeclampsia) and 654 (0.04%) to eclampsia during...

  17. Maternal Fat Feeding Augments Offspring Nephron Endowment in Mice

    Science.gov (United States)

    Hokke, Stacey; Puelles, Victor G.; Armitage, James A.; Fong, Karen; Bertram, John F.; Cullen-McEwen, Luise A.

    2016-01-01

    Increasing consumption of a high fat 'Western' diet has led to a growing number of pregnancies complicated by maternal obesity. Maternal overnutrition and obesity have health implications for offspring, yet little is known about their effects on offspring kidney development and renal function. Female C57Bl6 mice were fed a high fat diet (HFD, 21% fat) or matched normal fat diet (NFD, 6% fat) for 6 weeks prior to pregnancy and throughout gestation and lactation. HFD dams were overweight and glucose intolerant prior to mating but not in late gestation. Offspring of NFD and HFD dams had similar body weights at embryonic day (E)15.5, E18.5 and at postnatal day (PN)21. HFD offspring had normal ureteric tree development and nephron number at E15.5. However, using unbiased stereology, kidneys of HFD offspring were found to have 20–25% more nephrons than offspring of NFD dams at E18.5 and PN21. Offspring of HFD dams with body weight and glucose profiles similar to NFD dams prior to pregnancy also had an elevated nephron endowment. At 9 months of age, adult offspring of HFD dams displayed mild fasting hyperglycaemia but similar body weights to NFD offspring. Renal function and morphology, measured by transcutaneous clearance of FITC-sinistrin and stereology respectively, were normal. This study demonstrates that maternal fat feeding augments offspring nephron endowment with no long-term consequences for offspring renal health. Future studies assessing the effects of a chronic stressor on adult mice with augmented nephron number are warranted, as are studies investigating the molecular mechanisms that result in high nephron endowment. PMID:27547968

  18. Maternal Fat Feeding Augments Offspring Nephron Endowment in Mice.

    Science.gov (United States)

    Hokke, Stacey; Puelles, Victor G; Armitage, James A; Fong, Karen; Bertram, John F; Cullen-McEwen, Luise A

    2016-01-01

    Increasing consumption of a high fat 'Western' diet has led to a growing number of pregnancies complicated by maternal obesity. Maternal overnutrition and obesity have health implications for offspring, yet little is known about their effects on offspring kidney development and renal function. Female C57Bl6 mice were fed a high fat diet (HFD, 21% fat) or matched normal fat diet (NFD, 6% fat) for 6 weeks prior to pregnancy and throughout gestation and lactation. HFD dams were overweight and glucose intolerant prior to mating but not in late gestation. Offspring of NFD and HFD dams had similar body weights at embryonic day (E)15.5, E18.5 and at postnatal day (PN)21. HFD offspring had normal ureteric tree development and nephron number at E15.5. However, using unbiased stereology, kidneys of HFD offspring were found to have 20-25% more nephrons than offspring of NFD dams at E18.5 and PN21. Offspring of HFD dams with body weight and glucose profiles similar to NFD dams prior to pregnancy also had an elevated nephron endowment. At 9 months of age, adult offspring of HFD dams displayed mild fasting hyperglycaemia but similar body weights to NFD offspring. Renal function and morphology, measured by transcutaneous clearance of FITC-sinistrin and stereology respectively, were normal. This study demonstrates that maternal fat feeding augments offspring nephron endowment with no long-term consequences for offspring renal health. Future studies assessing the effects of a chronic stressor on adult mice with augmented nephron number are warranted, as are studies investigating the molecular mechanisms that result in high nephron endowment. PMID:27547968

  19. Dietary glycemic index during pregnancy is associated with biomarkers of the metabolic syndrome in offspring at age 20 years.

    Directory of Open Access Journals (Sweden)

    Inge Danielsen

    Full Text Available OBJECTIVE: Growing evidence indicates that metabolic syndrome is rooted in fetal life with a potential key role of nutrition during pregnancy. The objective of the study was to assess the possible associations between the dietary glycemic index (GI and glycemic load (GL during pregnancy and biomarkers of the metabolic syndrome in young adult offspring. METHODS: Dietary GI and GL were assessed by questionnaires and interviews in gestation week 30 and offspring were clinically examined at the age of 20 years. Analyses based on 428 mother-offspring dyads were adjusted for maternal smoking during pregnancy, height, pre-pregnancy body mass index (BMI, education, energy intake, and the offspring's ambient level of physical activity. In addition, possible confounding by gestational diabetes mellitus was taken into account. OUTCOME MEASURES: Waist circumference, blood pressure, HOMA insulin resistance (HOMA-IR and plasma levels of fasting glucose, triglycerides, HDL cholesterol, LDL cholesterol, total cholesterol, insulin, and leptin were measured in the offspring. RESULTS: Significant associations were found between dietary GI in pregnancy and HOMA-IR (the relative increase in HOMA-IR per 10 units' GI increase was 1.09 [95% CI: 1.01, 1.16], p = 0.02, insulin (1.09 [95% CI: 1.02, 1.16], p = 0.01 and leptin (1.21 [95% CI: 1.06, 1.38], p = 0.01 in the offspring; whereas no associations were detected for GL. CONCLUSIONS: Our data suggests that high dietary GI in pregnancy may affect levels of markers for the metabolic syndrome in young adult offspring in a potentially harmful direction.

  20. Bone grafting, corticotomy, and orthodontics: treatment of cleft alveolus in a chinese cohort.

    Science.gov (United States)

    Mao, Li-Xia; Shen, Guo-Fang; Fang, Bing; Xia, Yun-Hui; Ma, Xu-Hui; Wang, Bo

    2013-11-01

    Objective : A multimodal therapy was applied to solve a set of related problems including collapse of the posterior segment, high level gingival margin of canine, and resorption of grafted bone in a cohort of Chinese youngsters with cleft lip and palate. This study aimed to evaluate the benefits of this treatment procedure. Methods : Thirty patients with unilateral cleft lip and palate were included in this prospective study. All patients had previously undergone only cleft lip and palate repair and presented with alveolar cleft and an obvious step in the gingival margin between the canine tooth and the teeth beside it. A multimodal therapy that included bone grafting, corticotomy, and orthodontics was applied to solve these problems. Grafted bone volume, parallelism of the roots, root resorption, gingival margin, and mobility of the canine on the cleft side were established before surgery, 1 week after surgery, and after straightening of the canine. Results : Less than 25% of the grafted bone was reabsorbed in 25 of the 30 patients, while less than 50% was resorbed in the remaining five. The roots of the canines on the cleft side were mostly parallel to the adjacent teeth. Root resorption and mobility of the canines were slight. The difference in the gingival margin between the canines on the cleft side and the other side was small. Conclusions : Canines moved into the grafted bone safely and effectively, thus achieving a normal gingival margin and retaining grafted bone volume in one operation. PMID:22849663

  1. Dual embryonic origin of maxillary lateral incisors: clinical implications in patients with cleft lip and palate

    Science.gov (United States)

    Garib, Daniela Gamba; Rosar, Julia Petruccelli; Sathler, Renata; Ozawa, Terumi Okada

    2015-01-01

    Introduction: Cleft lip and palate are craniofacial anomalies highly prevalent in the overall population. In oral clefts involving the alveolar ridge, variations of number, shape, size and position are observed in maxillary lateral incisors. The objective of this manuscript is to elucidate the embryonic origin of maxillary lateral incisors in order to understand the etiology of these variations. Contextualization: The hypothesis that orofacial clefts would split maxillary lateral incisor buds has been previously reported. However, recent studies showed that maxillary lateral incisors have dual embryonic origin, being partially formed by both the medial nasal process and the maxillary process. In other words, the mesial half of the lateral incisor seems to come from the medial nasal process while the distal half of the lateral incisor originates from the maxillary process. In cleft patients, these processes do not fuse, which results in different numerical and positional patterns for lateral incisors relating to the alveolar cleft. In addition to these considerations, this study proposes a nomenclature for maxillary lateral incisors in patients with cleft lip and palate, based on embryology and lateral incisors position in relation to the alveolar cleft. Conclusion: Embryological knowledge on the dual origin of maxillary lateral incisors and the use of a proper nomenclature for their numerical and positional variations renders appropriate communication among professionals and treatment planning easier, in addition to standardizing research analysis. PMID:26560830

  2. Auroral and magnetic variations in the polar cusp and cleft. Signatures of magnetopause boundary layer dynamics

    International Nuclear Information System (INIS)

    By combining continous ground-based observations of polar cleft/cusp auroras and local magnetic variations with electromagnetic parameters obtained from satellites in polar orbit (low-altitude cleft/cusp) and in the magnetosheath/interplanetary space, different electrodynamic processes in the polar cleft/cusp have been investigated. One of the more controversial questions in this field is related to the observed shifts in latitude of cleft/cusp auroras and the relationships with the interplanetary magnetic field (IMF) orientation, local magnetic disturbances (DP2 and DPY modes) and magnetospheric substorms. A new approach which may contribute to clarifying these complicated relationships, simultaneous groundbased observations of the midday and evening-midnight sectors of the auroral oval, is illustrated. A related topic is the spatial relationship between the cleft/cusp auroras and the ionospheric convection currents. A characteristic feature of the polar cusp and cleft regions during negative IMF Bz is repeated occurrence of certain short-lived auroral structures moving in accordance with the local convection pattern. Satellite measurements of particle precipitation, magnetic field and ion drift components permit detailed investigations of the electrodynamics of these cusp/cleft structures. Information on electric field components, Birkeland currents, Poynting flux, height-integrated Pedersen conductivity and Joule heat dissipation rate has been derived. These observations are discussed in relation to existing models of temporal plasma injections from the magnetosheath

  3. Nasolabial symmetry and aesthetics in children with complete unilateral cleft lip and palate.

    Science.gov (United States)

    Fudalej, Piotr; Katsaros, Christos; Hozyasz, Kamil; Borstlap, Wilfred A; Kuijpers-Jagtman, Anne Marie

    2012-10-01

    The objective of this study was to evaluate the association between nasolabial symmetry and aesthetics in children with complete unilateral cleft lip and palate (CUCLP). Frontal and basal photographs of 60 consecutively treated children with CUCLP (cleft group: 41 boys and 19 girls, mean (SD) age 11 (2) years) and 44 children without clefts (control group: 16 boys and 28 girls, mean (SD) age 11(2) years), were used for evaluation of nasolabial symmetry and aesthetics. Nasal and labial measurements were made to calculate the coefficient of asymmetry (CA). The 5-grade aesthetic index described by Asher-McDade et al. was used to evaluate nasolabial appearance. Correlation and regression analysis were used to identify an association between aesthetics and CA, sex, and the presence of CUCLP. Ten measurements in the cleft, and 2 in the control, group differed significantly between the cleft and non-cleft (or right and left) sides, respectively. The significantly higher values of 9 of 11 CA in the children with CUCLP indicated that they had more asymmetrical nasolabial areas than children without clefts. However, the regression analyses showed that only a few CA were associated with nasolabial aesthetics. In conclusion, nasolabial aesthetics and nasolabial symmetry seem to be only weakly associated in patients with CUCLP.

  4. Dual embryonic origin of maxillary lateral incisors: clinical implications in patients with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    Daniela Gamba Garib

    2015-10-01

    Full Text Available Introduction:Cleft lip and palate are craniofacial anomalies highly prevalent in the overall population. In oral clefts involving the alveolar ridge, variations of number, shape, size and position are observed in maxillary lateral incisors. The objective of this manuscript is to elucidate the embryonic origin of maxillary lateral incisors in order to understand the etiology of these variations.Contextualization: The hypothesis that orofacial clefts would split maxillary lateral incisor buds has been previously reported. However, recent studies showed that maxillary lateral incisors have dual embryonic origin, being partially formed by both the medial nasal process and the maxillary process. In other words, the mesial half of the lateral incisor seems to come from the medial nasal process while the distal half of the lateral incisor originates from the maxillary process. In cleft patients, these processes do not fuse, which results in different numerical and positional patterns for lateral incisors relating to the alveolar cleft. In addition to these considerations, this study proposes a nomenclature for maxillary lateral incisors in patients with cleft lip and palate, based on embryology and lateral incisors position in relation to the alveolar cleft.Conclusion:Embryological knowledge on the dual origin of maxillary lateral incisors and the use of a proper nomenclature for their numerical and positional variations renders appropriate communication among professionals and treatment planning easier, in addition to standardizing research analysis.

  5. Prevalence of Oral Habits in Children with Cleft Lip and Palate

    Directory of Open Access Journals (Sweden)

    Paula Caroline Barsi

    2013-01-01

    Full Text Available This study investigated the prevalence of oral habits in children with clefts aged three to six years, compared to a control group of children without clefts in the same age range, and compared the oral habits between children with clefts with and without palatal fistulae. The sample was composed of 110 children aged 3 to 6 years with complete unilateral cleft lip and palate and 110 children without alterations. The prevalence of oral habits and the correlation between habits and presence of fistulae (for children with clefts were analyzed by questionnaires applied to the children caretakers. The cleft influenced the prevalence of oral habits, with lower prevalence of pacifier sucking for children with cleft lip and palate and higher prevalence for all other habits, with significant association (. There was no significant association between oral habits and presence of fistulae (. The lower prevalence of pacifier sucking and higher prevalence of other oral habits agreed with the postoperative counseling to remove the pacifier sucking habit when the child is submitted to palatoplasty, possibly representing a substitution of habits. There was no causal relationship between habits and presence of palatal fistulae.

  6. Prevalence of oral habits in children with cleft lip and palate.

    Science.gov (United States)

    Barsi, Paula Caroline; Ribeiro da Silva, Thaieny; Costa, Beatriz; da Silva Dalben, Gisele

    2013-01-01

    This study investigated the prevalence of oral habits in children with clefts aged three to six years, compared to a control group of children without clefts in the same age range, and compared the oral habits between children with clefts with and without palatal fistulae. The sample was composed of 110 children aged 3 to 6 years with complete unilateral cleft lip and palate and 110 children without alterations. The prevalence of oral habits and the correlation between habits and presence of fistulae (for children with clefts) were analyzed by questionnaires applied to the children caretakers. The cleft influenced the prevalence of oral habits, with lower prevalence of pacifier sucking for children with cleft lip and palate and higher prevalence for all other habits, with significant association (P oral habits and presence of fistulae (P > 0.05). The lower prevalence of pacifier sucking and higher prevalence of other oral habits agreed with the postoperative counseling to remove the pacifier sucking habit when the child is submitted to palatoplasty, possibly representing a substitution of habits. There was no causal relationship between habits and presence of palatal fistulae.

  7. Environmental factors related to the occurrence of oral clefts in a Brazilian subpopulation

    Science.gov (United States)

    Campos Neves, Ana Thereza de Saboia; Volpato, Luiz Evaristo Ricci; Espinosa, Mariano Martinez; Aranha, Andreza Maria Fabio; Borges, Alvaro Henrique

    2016-01-01

    Background: A cross-sectional study was conducted at the Craniofacial Rehabilitation Center in the General Hospital of the University of Cuiabá, Cuiabá city, Mato Grosso, Brazil. Materials and Methods: Poisson regression model was used to analyze the relationship between antenatal factors and the occurrence of oral clefts in 116 patients. Results: Oral clefts were more common in males (64.66%) and White race (46.02%). The mean age of the children was 21.91 months. The most common type of cleft was cleft lip and palate (CLP, 55.17%). Maternal and paternal smoking in the first trimester of pregnancy and parity were significantly associated with the occurrence of CLP. Parent's age, educational level, and occupation did not interfere in the occurrence of oral clefts. There was also no significant association between maternal illness, medication use, alcohol consumption, and maternal exposure to chemicals in the first trimester of pregnancy and the occurrence of clefts in this population. Conclusion: The analysis of the environmental factors present during the pregnancy of children with oral clefts revealed a significant association between parity (second onward), maternal smoking, and paternal smoking and the occurrence of CL and/or palate in this population. PMID:27397957

  8. Lower birth weight and attenuated adrenocortical response to ACTH in offspring from sows that orally received cortisol during gestation

    NARCIS (Netherlands)

    Kranendonk, G.; Hopster, H.; Fillerup, M.; Ekkel, E.D.; Mulder, E.J.H.; Wiegant, V.M.; Taverne, M.A.M.

    2006-01-01

    Prenatal stress is known to affect several offspring characteristics, but its effects depend among other factors on the period of gestation in which it is applied. In the present study, oral administration of hydrocortisone-acetate (HCA) was used to elevate cortisol concentrations in pregnant sows t

  9. Prevalence of polydactyly, syndactyly, amniotic band syndrome, cleft lip, cleft palate and talipes equinovarus in Bayelsa State, Nigeria

    Directory of Open Access Journals (Sweden)

    Oyinbo, Charles A.

    2009-09-01

    Full Text Available Studies on incidence of birth anomalies are abundant world wide, but literatures on general population prevalence of anomalies are scanty, despite the fact that structural anomaly is the 5th leading cause of years of potential life lost prior to age 65 and a major contributor to disabilities. The purpose of this study is to estimate the general population prevalence of polydactyly, syndactyly, amniotic band syndrome, cleft lip, cleft palate, and talipes equinovarus in Bayelsa State, Nigeria. Two thousand (2000 subjects domicile in Bayelsa State were randomly selected for this study. Subjects were physically screened for musculoskeletal anomalies. Individuals with genetic syndromes were excluded. Study did not discriminate between types or sub- types of any anomaly. Results show that the overall population prevalence of musculoskeletal anomalies is 13%; with a high proportion (67% of minor anomalies. The general population prevalence of these anomalies is comparable with known birth prevalence world wide. Thus suggestive that a general population prevalence estimate of an anomaly could be a useful estimate of congenital anomaly in developing countries were record keeping are largely poor.

  10. Lower incidence of nonsyndromic cleft lip with or without cleft palate in females: Is homocysteine a factor?

    Indian Academy of Sciences (India)

    Priyanka Kumari; Akhtar Ali; Krishna K Sukla; Subodh K Singh; Rajiva Raman

    2013-03-01

    In India, as in other parts of the world, nonsyndromic cleft lip with or without cleft palate (NSCL±P) is a highly prevalent birth defect, its incidence in males being twice that in females. A case–control association study has been carried out with respect to homocysteine level and MTHFR C677T, A1298C and SLC19A1 (RFC1) G80A genotypes from an eastern Indian cohort to investigate whether Hcy and other Hcy-pathway genes also contribute to the risk level. While MTHFR 677T and SLC19A1 80G are individually and cumulatively risk factors, SLC19A1 80A appears to be protective against MTHFR 677T risk allele. Elevated Hcy associates with NSCL±P both in case mothers and cases. Significantly, this difference shows a gender bias: the level of elevation of Hcy in female cases is distinctly higher than in males, and more case females are hyperhomocyteinemic than the case males. It implies that compared with the males, higher level of Hcy is needed for NSCL±P to manifest in the females. We consider this as one of the possible factors why the incidence of this disorder in females is much lower than in males.

  11. TGFA and IRF6 contribute to the risk of nonsyndromic cleft lip with or without cleft palate in northeast China.

    Directory of Open Access Journals (Sweden)

    Yongping Lu

    Full Text Available Nonsyndromic cleft lip with or without cleft palate (NSCL/P are common birth defects with a complex etiology. Multiple interacting loci and possible environmental factors influence the risk of NSCL/P. 12 single nucleotide polymorphisms (SNPs in 7 candidate genes were tested using an allele-specific primer extension for case-control and case-parent analyses in northeast China in 236 unrelated patients, 185 mothers and 154 fathers, including 128 complete trios, and 400 control individuals. TGFA and IRF6 genes showed a significant association with NSCL/P. In IRF6, statistical evidence of an association between rs2235371 (p = 0.003, rs2013162 (p<0.0001 and NSCL/P was observed in case-control analyses. Family based association tests (FBATs showed over-transmission of the C allele at the rs2235371 polymorphism (p = 0.007. In TGFA, associations between rs3771494, rs3771523 (G3822A, rs11466285 (T3851C and NSCL/P were observed in case-control and FBAT analyses. Associations between other genes (BCL3, TGFB3, MTHFR, PVRL1 and SUMO1 and NSCL/P were not detected.

  12. High Dosage Folic Acid Supplementation, Oral Cleft Recurrence and Fetal Growth

    Directory of Open Access Journals (Sweden)

    Carla Padovani

    2013-02-01

    Full Text Available Objectives: To evaluate the effects of folic acid supplementation on isolated oral cleft recurrence and fetal growth. Patients and Methods: The study included 2,508 women who were at-risk for oral cleft recurrence and randomized into two folic acid supplementation groups: 0.4 and 4 mg per day before pregnancy and throughout the first trimester. The infant outcome data were based on 234 live births. In addition to oral cleft recurrence, several secondary outcomes were compared between the two folic acid groups. Cleft recurrence rates were also compared to historic recurrence rates. Results: The oral cleft recurrence rates were 2.9% and 2.5% in the 0.4 and 4 mg groups, respectively. The recurrence rates in the two folic acid groups both separately and combined were significantly different from the 6.3% historic recurrence rate post the folic acid fortification program for this population (p = 0.0009 when combining the two folic acid groups. The rate of cleft lip with palate recurrence was 2.9% in the 0.4 mg group and 0.8% in the 4 mg group. There were no elevated fetal growth complications in the 4 mg group compared to the 0.4 mg group. Conclusions: The study is the first double-blinded randomized clinical trial (RCT to study the effect of high dosage folic acid supplementation on isolated oral cleft recurrence. The recurrence rates were similar between the two folic acid groups. However, the results are suggestive of a decrease in oral cleft recurrence compared to the historic recurrence rate. A RCT is still needed to identify the effect of folic acid on oral cleft recurrence given these suggestive results and the supportive results from previous interventional and observational studies, and the study offers suggestions for such future studies. The results also suggest that high dosage folic acid does not compromise fetal growth.

  13. High Dosage Folic Acid Supplementation, Oral Cleft Recurrence and Fetal Growth

    Science.gov (United States)

    Wehby, George L.; Félix, Têmis Maria; Goco, Norman; Richieri-Costa, Antonio; Chakraborty, Hrishikesh; Souza, Josiane; Pereira, Rui; Padovani, Carla; Moretti-Ferreira, Danilo; Murray, Jeffrey C.

    2013-01-01

    Objectives: To evaluate the effects of folic acid supplementation on isolated oral cleft recurrence and fetal growth. Patients and Methods: The study included 2,508 women who were at-risk for oral cleft recurrence and randomized into two folic acid supplementation groups: 0.4 and 4 mg per day before pregnancy and throughout the first trimester. The infant outcome data were based on 234 live births. In addition to oral cleft recurrence, several secondary outcomes were compared between the two folic acid groups. Cleft recurrence rates were also compared to historic recurrence rates. Results: The oral cleft recurrence rates were 2.9% and 2.5% in the 0.4 and 4 mg groups, respectively. The recurrence rates in the two folic acid groups both separately and combined were significantly different from the 6.3% historic recurrence rate post the folic acid fortification program for this population (p = 0.0009 when combining the two folic acid groups). The rate of cleft lip with palate recurrence was 2.9% in the 0.4 mg group and 0.8% in the 4 mg group. There were no elevated fetal growth complications in the 4 mg group compared to the 0.4 mg group. Conclusions: The study is the first double-blinded randomized clinical trial (RCT) to study the effect of high dosage folic acid supplementation on isolated oral cleft recurrence. The recurrence rates were similar between the two folic acid groups. However, the results are suggestive of a decrease in oral cleft recurrence compared to the historic recurrence rate. A RCT is still needed to identify the effect of folic acid on oral cleft recurrence given these suggestive results and the supportive results from previous interventional and observational studies, and the study offers suggestions for such future studies. The results also suggest that high dosage folic acid does not compromise fetal growth. PMID:23380913

  14. Objective tools to analyze the lower lateral cartilage in unilateral cleft lip nasal deformities.

    Science.gov (United States)

    Saleh, Mohamed A; Elshahat, Ahmed; Emara, Maher; Hussein, Heba; Gould, Lisa; Smith, David; Awad, Mostafa A

    2011-07-01

    Correction of cleft lip nasal deformity is an elusive goal. A controversy exists regarding the cause of the deformity, and therefore, there is a controversy of how to correct the deformity. Extrinsic theory is based on the presence of deformational forces from outside. The intrinsic theory is associated with deficiency of the lower lateral cartilage. The aim of this study was to use new objective tools to compare morphologically and histologically between the lower lateral cartilages of cleft and noncleft sides in patients with unilateral cleft lip nasal deformity. This study included 16 patients. They were operated on to correct unilateral cleft lip nasal deformity. Length, width, and thickness of lateral crura of the lower lateral cartilages of cleft and noncleft sides were measured. Punch biopsies from the middle part of the caudal ends of lateral crura were taken and sent for histologic and immunohistochemical studies. The lateral crura of the cleft side were significantly wider and shorter and tend to be thinner than those of the noncleft side. There was no significant difference in the chondroblast, chondrocyte, and total cellular number in the lower lateral cartilage of the cleft and noncleft sides. There was significantly less glycosaminoglycan content in the ground matrix of the lower lateral cartilage of cleft side. In conclusion, the use of digital sliding caliber in measuring the diminutions of the lower lateral cartilage and image analyzer to quantify the proteoglycans, glycosaminoglycans, fibroblast growth factor 18, and collagen content is very effective objective tools to compare the cleft and noncleft alar cartilage. PMID:21772161

  15. Impacts of experimentally increased foraging effort on the family: offspring sex matters

    Science.gov (United States)

    Harding, A.M.A.; Kitaysky, A.S.; Hamer, K.C.; Hall, M.E.; Welcker, J.; Talbot, S.L.; Karnovsky, N.J.; Gabrielsen, G.W.; Gremillet, D.

    2009-01-01

    We examined how short-term impacts of experimentally increased foraging effort by one parent reverberate around the family in a monomorphic seabird (little auk, Alle alle), and whether these effects depend on offspring sex. In many species, more effort is required to rear sons successfully than daughters. However, undernourishment may have stronger adverse consequences for male offspring, which could result in a lower fitness benefit of additional parental effort when rearing a son. We tested two alternative hypotheses concerning the responses of partners to handicapping parents via feather clipping: partners rearing a son are (1) more willing or able to compensate for the reduced contribution of their mate, or (2) less willing or able to compensate, compared to those rearing a daughter. Hypothesis 1 predicts that sons will be no more adversely affected than daughters, and the impact on parents will be greater when rearing a son. Hypothesis 2 predicts that sons will be more adversely affected than daughters, and parents raising a son less affected. Although experimental chicks of both sexes fledged in poorer condition than controls, sons attained higher mass and more rapid growth than daughters in both groups. Clipped parents lost a similar proportion of their initial mass regardless of chick sex, whereas partners of clipped birds lost more mass when rearing a son. These results support hypothesis 1: impacts of increased foraging effort by one parent were felt by offspring, regardless of their sex, and by the partners of manipulated birds, particularly when the offspring was male. ?? 2009 The Association for the Study of Animal Behaviour.

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

    Science.gov (United States)

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

    2010-09-01

    Cleft lips and palates (CLPs) are the most common human facial malformations. Depending on the ethnic and/or geographical origin of the studied populations, they can affect up to 1/500 newborns. The treatment of these patients is multidisciplinary because these malformations have not only aesthetic consequences but also functional consequences as the phonation, hearing, deglutition, mastication and ventilation are altered. These consequences can also be psychological since the building of the body image, the way others perceive it, is likely to be seriously altered. In Europe there are over 210 reference hospitals for children affected by CLP. Besides, about 190 different protocols were identified. So far no generic protocol was recognized by the medical community as a whole. This discrepancy can be explained by the fact that the aesthetic and functional result of a protocol cannot be accurately assessed before adulthood when the child's growth is complete. Patients presenting with CLP don't usually seem to present with any serious psychological or psychiatric pathology. Yet a close review of the related literature shows that disorders are actually described: behavioural troubles, anxiety, depression and esthetic dissatisfaction with one's face in children as well as in adults. The difficulty in interpreting these disorders lies in the various factors that are likely to impact this condition (family setting, importance and type of the cleft, surgery protocol, growth, social environment). A multidisciplinary examination of the face and a careful consideration of concerned families show the importance of the psychological context and the risks of a dis-harmonious structuring of the parents-child relationships on the child's development. The identification of the difficulties faced by these families, depending on the child's age, can be easily identified. Of course they can be identified at birth when the family first sees the child and later on at each stage of the

  17. Environment of oocyte and embryo determines heath of IVP offspring

    NARCIS (Netherlands)

    Kruip, T.A.M.; Bevers, M.M.; Kemp, B.

    2000-01-01

    In vitro embryo production (IVP) enhances the number of offspring from a single female and offers the possibility of accelerated genetic progress in animal husbandry. However, it also leads to a low but unacceptable percentage of anomalies in the offspring. The aim of this paper is to introduce the

  18. Meiotic faults as a major cause of offspring inviability

    DEFF Research Database (Denmark)

    Levitis, Daniel; Zimmerman, Kolea; Pringle, Anne

    2014-01-01

    , the most sex-like form of asex. Meiotic parthenogenesis does consistently achieve lower offspring viability than does sex. However when sexual reproduction is compared to forms of asex that don't involve meiosis, asex results in higher offspring viability. Combined with experimental and demographic data...... range of organisms....

  19. The evolution of parent-offspring conflict over mate choice

    NARCIS (Netherlands)

    van den Berg, Pieter; Fawcett, Tim W.; Buunk, Abraham P.; Weissing, Franz J.

    2013-01-01

    In human societies, parents often have a strong influence on the mate choice of their offspring. Moreover, empirical studies show that conflict over mate choice between parents and offspring is widespread across human cultures. Here we provide the first theoretical investigation into this conflict,

  20. [A case of Rathke's cleft cyst in association with anterior communicating artery aneurysm presenting a rare visual field defect].

    Science.gov (United States)

    Yuki, K; Katsuzo, K; Ikawa, F; Takeshita, S; Hamasaki, O; Tohru, U

    1996-05-01

    We report a case of Rathke's cleft cyst associated with anterior communicating artery aneurysm. The patient was 60-year-old woman who developed visual disturbance two months before admission to our hospital. Visual acuity on the right was 0.06 and on the left was 0.08. The visual fields showed a complete temporal hemianopsia on the left eye and an incomplete temporal hemianopsia of the right eye with a central defect of the temporal visual field. CT and MR imagings showed an intra- and suprasellar mass lesion with no enhancement. Angiography showed bilateral A1 elevations and anterior communicating artery aneurysm. The operation was performed through interhemispheric approach. Suprasellar cystic mass compressed upward the optic nerves and chiasm, and aneurysmal dome stuck in the central region of chiasm. This anatomical disorders affected to the optic chiasm resulted in a rare visual field defect. Neck clipping of aneurysm and opening of the cyst were performed. A diagnosis of Rathke's cleft cyst was made. Following surgery, her visual fields resolved but she suffered from diabetes insipidus. PMID:8672308

  1. Presurgical nasoalveolar molding therapy in cleft lip and palate individuals: Case series and review

    Directory of Open Access Journals (Sweden)

    Narayan H Gandedkar

    2015-01-01

    Full Text Available The nasoalveolar molding (NAM therapy is advocated to reduce the severity of alveolar cleft and nasal deformity. NAM therapy has demonstrated to be an effective method for reducing cleft and improve nose anatomy. This paper presents a case report of three cleft lip and palate individuals treated with NAM therapy. Furthermore, the paper highlights the advantages of NAM therapy along with an enumeration of literature suggesting in favor of NAM therapy and otherwise. Regardless of controversies and divergent views involved with NAM therapy, the immediate success of NAM therapy facilitating primary lip repair surgery cannot be under-emphasized.

  2. Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

    Directory of Open Access Journals (Sweden)

    P K Shivaprakash

    2012-01-01

    Full Text Available Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approach for treatment is needed which is co-ordinated by pedodontist or pediatrician.

  3. A multigenerational effect of parental age on offspring size but not fitness in common duckweed (Lemna minor).

    Science.gov (United States)

    Barks, P M; Laird, R A

    2016-04-01

    Classic theories on the evolution of senescence make the simplifying assumption that all offspring are of equal quality, so that demographic senescence only manifests through declining rates of survival or fecundity. However, there is now evidence that, in addition to declining rates of survival and fecundity, many organisms are subject to age-related declines in the quality of offspring produced (i.e. parental age effects). Recent modelling approaches allow for the incorporation of parental age effects into classic demographic analyses, assuming that such effects are limited to a single generation. Does this 'single-generation' assumption hold? To find out, we conducted a laboratory study with the aquatic plant Lemna minor, a species for which parental age effects have been demonstrated previously. We compared the size and fitness of 423 laboratory-cultured plants (asexually derived ramets) representing various birth orders, and ancestral 'birth-order genealogies'. We found that offspring size and fitness both declined with increasing 'immediate' birth order (i.e. birth order with respect to the immediate parent), but only offspring size was affected by ancestral birth order. Thus, the assumption that parental age effects on offspring fitness are limited to a single generation does in fact hold for L. minor. This result will guide theorists aiming to refine and generalize modelling approaches that incorporate parental age effects into evolutionary theory on senescence.

  4. High vitamin A intake during pregnancy modifies dopaminergic reward system and decreases preference for sucrose in Wistar rat offspring.

    Science.gov (United States)

    Sánchez-Hernández, Diana; Poon, Abraham N; Kubant, Ruslan; Kim, Hwanki; Huot, Pedro S P; Cho, Clara E; Pannia, Emanuela; Reza-López, Sandra A; Pausova, Zdenka; Bazinet, Richard P; Anderson, G Harvey

    2016-01-01

    High multivitamin (HV) content in gestational diets has long-term metabolic effects in rat offspring. These changes are associated with in utero modifications of gene expression in hypothalamic food intake regulation. However, the role of fat-soluble vitamins in mediating these effects has not been explored. Vitamin A is a plausible candidate due to its role in gene methylation. Vitamin A intake above requirements during pregnancy affects the development of neurocircuitries involved in food intake and reward regulation. Pregnant Wistar rats were fed AIN-93G diets with the following content: recommended multivitamins (1-fold multivitamins: RV), high vitamin A (10-fold vitamin A: HA) or HV with only recommended vitamin A (10-fold multivitamins, 1-fold vitamin A: HVRA). Body weight, food intake and preference, mRNA expression and DNA methylation of hippocampal dopamine-related genes were assessed in male offspring brains at different developmental windows: birth, weaning and 14weeks postweaning. HA offspring had changes in dopamine-related gene expression at all developmental windows and DNA hypermethylation in the dopamine receptor 2 promoter region compared to RV offspring. Furthermore, HA diet lowered sucrose preference but had no effect on body weight and expression of hypothalamic genes. In contrast, HVRA offspring showed only at adulthood changes in expression of hippocampal genes and a modest effect on hypothalamic genes. High vitamin A intake alone in gestational diets has long-lasting programming effects on the dopaminergic system that are further translated into decreased sucrose preference but not food intake.

  5. A multigenerational effect of parental age on offspring size but not fitness in common duckweed (Lemna minor).

    Science.gov (United States)

    Barks, P M; Laird, R A

    2016-04-01

    Classic theories on the evolution of senescence make the simplifying assumption that all offspring are of equal quality, so that demographic senescence only manifests through declining rates of survival or fecundity. However, there is now evidence that, in addition to declining rates of survival and fecundity, many organisms are subject to age-related declines in the quality of offspring produced (i.e. parental age effects). Recent modelling approaches allow for the incorporation of parental age effects into classic demographic analyses, assuming that such effects are limited to a single generation. Does this 'single-generation' assumption hold? To find out, we conducted a laboratory study with the aquatic plant Lemna minor, a species for which parental age effects have been demonstrated previously. We compared the size and fitness of 423 laboratory-cultured plants (asexually derived ramets) representing various birth orders, and ancestral 'birth-order genealogies'. We found that offspring size and fitness both declined with increasing 'immediate' birth order (i.e. birth order with respect to the immediate parent), but only offspring size was affected by ancestral birth order. Thus, the assumption that parental age effects on offspring fitness are limited to a single generation does in fact hold for L. minor. This result will guide theorists aiming to refine and generalize modelling approaches that incorporate parental age effects into evolutionary theory on senescence. PMID:26728747

  6. Impact of gestational diabetes and lactational insulin replacement on structure and secretory function of offspring rat ventral prostate.

    Science.gov (United States)

    Santos, Sérgio A A; Rinaldi, Jaqueline C; Martins, Amanda E; Camargo, Ana C L; Leonelli, Carina; Delella, Flávia K; Felisbino, Sérgio L; Justulin, Luis A

    2014-09-15

    Clinical and experimental studies have shown that exposure to adverse conditions during the critical stages of embryonic, fetal or neonatal development lead to a significantly increased risk of later disease. Diabetes during pregnancy has been linked to increased risk of obesity and diabetes in offspring. Here, we investigated whether mild gestational diabetes mellitus (GDM) followed or not by maternal insulin replacement affects the ventral prostate (VP) structure and function in male offspring at puberty and adulthood. Pregnant rats were divided into the following 3 groups: control (CT); streptozotocin (STZ)-induced diabetes (D); and D plus insulin replacement during lactation (GDI). The male offspring from different groups were euthanized at postnatal day (PND) 60 and 120. Biometrical parameters, hormonal levels and prostates were evaluated. Mild-GDM promoted reduction in the glandular parenchyma and increased collagen deposition. Insulin replacement during lactation restored the VP morphology. Most importantly, mild-GDM decreased the androgen-induced secretory function as determined by prostatein expression, and insulin replacement reversed this effect. Our results demonstrated that mild GDM impairs VP parenchyma maturation, which is associated with an increase in the fibromuscular stroma compartment. Functionally, the reduction in the VP parenchyma decreases the glandular secretory activity as demonstrated by low expression of prostatein, a potent immunosuppressor factor that protects sperm from immunologic damage into the feminine reproductive tract. This change could lead to impairment of reproductive function in male offspring from diabetic mothers. Maternal insulin replacement during the weaning period apparently restores the prostate function in male offspring.

  7. The association of maternal socialization in childhood and adolescence with adult offsprings' sympathy/caring.

    Science.gov (United States)

    Eisenberg, Nancy; VanSchyndel, Sarah K; Hofer, Claire

    2015-01-01

    The purpose of the study was to examine associations between mothers' socialization practices in childhood and adolescence and offsprings' (N = 32, 16 female) sympathy/concern in early adulthood. Mothers reported on their socialization practices and beliefs a total of 6 times using a Q-sort during their offsprings' childhood (between 7-8 and 11-12 years of age) and adolescence (between 13-14 and 17-18 years of age). Adult offsprings' sympathy/caring was assessed 3 times in early adulthood (at ages 19-20 to 23-24 years) and in their mid-20s to 30s (ages 25-26 to 31-32 years). In general, friends' reports of participants' sympathy/concern at ages 25-32 years related positively to mother-reported rational discipline (including inductions) and warmth and support during childhood and adolescence and negatively to mother-reported negative affect during adolescence. Self-reported sympathy/concern during early adulthood was positively related to maternal warmth and support during childhood and almost significantly negatively related to mother-reported negative affect during childhood and adolescence. Most of the relations held when the prior level of self-reported childhood empathy or adolescent sympathy was controlled. PMID:25383690

  8. Maternal effects on offspring consumption can stabilize fluctuating predator-prey systems.

    Science.gov (United States)

    Garbutt, Jennie S; Little, Tom J; Hoyle, Andy

    2015-12-01

    Maternal effects, where the conditions experienced by mothers affect the phenotype of their offspring, are widespread in nature and have the potential to influence population dynamics. However, they are very rarely included in models of population dynamics. Here, we investigate a recently discovered maternal effect, where maternal food availability affects the feeding rate of offspring so that well-fed mothers produce fast-feeding offspring. To understand how this maternal effect influences population dynamics, we explore novel predator-prey models where the consumption rate of predators is modified by changes in maternal prey availability. We address the 'paradox of enrichment', a theoretical prediction that nutrient enrichment destabilizes populations, leading to cycling behaviour and an increased risk of extinction, which has proved difficult to confirm in the wild. Our models show that enriched populations can be stabilized by maternal effects on feeding rate, thus presenting an intriguing potential explanation for the general absence of 'paradox of enrichment' behaviour in natural populations. This stabilizing influence should also reduce a population's risk of extinction and vulnerability to harvesting. PMID:26631563

  9. Comparison of oral hygiene and periodontal status in patients with clefts of palate and patients with unilateral cleft lip, palate and alveolus

    Directory of Open Access Journals (Sweden)

    Mutthineni Ramesh

    2010-01-01

    Full Text Available Aim: This study was conducted to analyze and compare the oral hygiene and periodontal status in patients with clefts of palate (CP and patients with unilateral cleft lip, palate and alveolus (UCLPA. Materials and Methods: The study group consisted of 120 cleft patients. Subjects were divided into two groups of 60 each. Group I - patients with UCLPA and Group II - patients with CP. For comparison, all the four quadrants were defined, Q1-right upper quadrant, Q2-left upper quadrant, Q3-left lower quadrant and Q4-right lower quadrant, in both groups and the following parameters were recorded: Plaque Index (PI, Silness and Loe, Sulcus Bleeding Index (SBI, Muhlemann and Son, Probing Pocket Depth (PPD, Clinical Attachment Level (CAL, Mobility Index (Miller and Radiographic Amount of Bone Loss. Results: The periodontal destruction was seen to be higher in UCLPA patients compared with CP patients. The poor oral hygiene status, as indicated by higher values of PI, and the periodontal status, evaluated by SBI, PPD, CAL, mobility and Radiographic Amount of Bone Loss, were higher in patients with UCLPA than in patients with CP. Conclusion: In this study, patients with cleft lip, palate and alveolus had poor oral hygiene and periodontal status compared with patients with cleft palate.

  10. Transgenerational plasticity mitigates the impact of global warming to offspring sex ratios.

    Science.gov (United States)

    Donelson, Jennifer M; Munday, Philip L

    2015-08-01

    Global warming poses a threat to organisms with temperature-dependent sex determination because it can affect operational sex ratios. Using a multigenerational experiment with a marine fish, we provide the first evidence that parents developing from early life at elevated temperatures can adjust their offspring gender through nongenetic and nonbehavioural means. However, this adjustment was not possible when parents reproduced, but did not develop, at elevated temperatures. Complete restoration of the offspring sex ratio occurred when parents developed at 1.5 °C above the present-day average temperature for one generation. However, only partial improvement in the sex ratio occurred at 3.0 °C above average conditions, even after two generations, suggesting a limitation to transgenerational plasticity when developmental temperature is substantially increased. This study highlights the potential for transgenerational plasticity to ameliorate some impacts of climate change and that development from early life may be essential for expression of transgenerational plasticity in some traits.

  11. Death by unnatural causes during childhood and early adulthood in offspring of psychiatric inpatients

    DEFF Research Database (Denmark)

    Webb, Roger; Pickles, Andrew R.; Appleby, Louis;

    2007-01-01

    MEASURES: Deaths from all natural causes and all unnatural causes, specifically, accidents, homicides, suicides, and undetermined causes. RESULTS: The highest observed relative risk (RR) was for homicide in young and older children with affected mothers or fathers. Homicides were between 5 and 10 times......CONTEXT: Offspring of psychiatric inpatients are at higher risk of death from all causes, but their cause-specific risks have not been quantified. OBJECTIVE: To investigate cause-specific deaths at 1 to 25 years in offspring of parents previously admitted as psychiatric inpatients. DESIGN......-fold to 3-fold higher risk of suicide. In almost one fourth of the suicides, there was a history of parental admission. Young adults with 2 previously admitted parents were 6 times more likely to kill themselves than were their peers in the general population. Relative risk of suicide or open...

  12. Moderate heat challenge increased yolk steroid hormones and shaped offspring growth and behavior in chickens.

    Directory of Open Access Journals (Sweden)

    Aline Bertin

    Full Text Available BACKGROUND: Environmental challenges might affect the maternal organism and indirectly affect the later ontogeny of the progeny. We investigated the cross-generation impact of a moderate heat challenge in chickens. We hypothesized that a warm temperature--within the thermotolerance range--would affect the hormonal environment provided to embryos by mothers, and in turn, affect the morphology and behavioral phenotype of offspring. METHODOLOGY/PRINCIPAL FINDINGS: Laying hens were raised under a standard thermal condition at 21°C (controls or 30°C (experimental for 5 consecutive weeks. A significant increase was observed in the internal temperature of hens exposed to the warm treatment; however plasma corticosterone levels remained unaffected. The laying rate was not affected, but experimental hens laid lighter eggs than the controls during the treatment. As expected, the maternal thermal environment affected yolk hormone contents. Eggs laid by the experimental hens showed significantly higher concentrations of yolk progesterone, testosterone, and estradiol. All chicks were raised under standard thermal conditions. The quality of hatchlings, growth, feeding behavior and emotional reactivity of chicks were analyzed. Offspring of experimental hens (C30 chicks were lighter but obtained better morphological quality scores at hatching than the controls (C21 chicks. C30 chicks expressed lesser distress calls when exposed to a novel food. Unlike C21 chicks, C30 chicks expressed no preference for energetic food. CONCLUSION/SIGNIFICANCE: Our findings suggest that moderate heat challenge triggers maternal effects and modulate the developmental trajectory of offspring in a way that may be adaptive. This suggests that the impact of heat challenges on captive or wild populations might have a cross-generation effect.

  13. Feeding considerations in infants born with cleft lip and palate

    Directory of Open Access Journals (Sweden)

    M Subramanya Shetty

    2016-01-01

    Full Text Available Infants born with the congenital deformity of cleft lip and or palate suffer from varieties of complications since the day 1 of their life. The most important of which is the feeding difficulty which leads to insufficient food intake and thereby causing deleterious effects on their overall development leading to malnutrition and death in some cases. However, research into the anatomical variations of these infants in the region of lip and palate has led to the development of several types of feeders and their modifications which would help them thrive well in the initial days and also for later. Hence, it is worth important to know about them in detail and help these infants and their families psychologically so that the infants do not suffer from feeding difficulties anymore.

  14. Three-Dimensional Assessment of Early Surgical Outcome in Repaired Unilateral Cleft Lip and Palate: Part 2. Lip Changes.

    LENUS (Irish Health Repository)

    Ayoub, Ashraf

    2010-09-08

    Abstract Objective: To evaluate 3D lip morphology, following primary reconstruction in children with unilateral cleft lip and palate (UCLP) relative to contemporaneous non-cleft data Design: Prospective, cross-sectional, controlled study Setting: Glasgow Dental Hospital & School, University of Glasgow, The UK. Patients and Participants: Two groups of 3-year old children (21 with unilateral cleft lip and palate and 96 controls) with facial images taken using a 3D vision based capture technique. Methods: 3D images of the face were reflected so the cleft was on the left side to create a homogenous group for statistical analysis. Three-dimensional co-ordinates of anthropometric landmarks were extracted from facial images. 3D generalised Procustes superimposition was employed and a set of linear measurements were utilised to compare between cleft and control subjects for right and left sides, adjusting for sex differences. Results: Christa philteri on both the cleft and non-cleft sides were displaced laterally and posteriorly; there was also a statistically significant increase in philtrum width. No significant differences between cleft and control regarding the cutaneous height of the upper lip. The lip in the cleft cases was flatter than in the non-cleft cases with less prominence of labialis superioris. Conclusions: Stereophotogrammetry allows detection of residual dysmorphology following cleft repair. There was significant increase of the philtrum width. The lip appeared flatter and more posterior displaced in Unilateral Cleft Lip and Palate (UCLP) cases compared with control. Keywords: child, cleft lip and palate, lip repair, three-dimensional imaging.

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

    Directory of Open Access Journals (Sweden)

    Kristian Andersen

    2015-06-01

    Full Text Available Objectives: To compare stability of maxillary advancements in patients with cleft lip and palate following distraction osteogenesis or orthognathic surgery. Material and Methods: Inclusion criteria: 1 cleft lip and palate, 2 advancement > 8 mm. Eleven patients comprised the distraction osteogenesis group (DOG. Seven patients comprised the orthognathic treatment group (CONVG. Skeletal and soft tissue points were traced on lateral cephalograms: T1 (preoperatively, T2 (after surgery, T3 (follow-up. Group differences were analyzed using Students t-test. Results: At T1-T2, advancement of 6.98 mm (P = 0.002 was observed in DOG. Horizontal overjet increased 11.62 mm (P = 0.001. A point-nasion-B point (ANB angle increased 8.82° (P = 0.001. Aesthetic plane to upper lip was reduced 5.44 mm (P = 0.017 and the naso-labial angle increased 16.6° (P = 0.001. Vertical overbite (VOB increased 2.27 mm (P = 0.021. In T2-T3, no significant changes were observed in DOG. In T1-T2, horizontal overjet increased 8.45 mm (P = 0.02. The ANB angle, 9.33° (P = 0.009 in CONVG. At T2-T3, VOB increased, 2.35 mm (P = 0.046, and the ANB angle reduced, 3.83° (P = 0.003. In T2-T3, no parameters changed in CONVG. At follow-up (T3, VOB increased in CONVG compared with DOG, (P = 0.01. Vertical position of A point differed between the groups (P = 0.04. No significant intergroup differences between soft tissue parameters occurred. Conclusions: Distraction osteogenesis resulted in a stable position of the maxilla and movement upwards in vertical plane, however in case of orthognathic treatment sagittal relapse and a continued postoperatively downward movement was registered.

  16. TCDD disrupts posterior palatogenesis and causes cleft palate.

    Science.gov (United States)

    Yamada, Tomohiro; Hirata, Azumi; Sasabe, Eri; Yoshimura, Tomohide; Ohno, Seiji; Kitamura, Naoya; Yamamoto, Tetsuya

    2014-01-01

    Dioxins (e.g. 2,3,7,8-tetrachlorodibenzo-p-dioxin; TCDD) cause cleft palate at a high rate. A post-fusional split may contribute to the pathogenesis, and tissue fragility may be a concern. The objective of this study was to investigate the effects of TCDD on the palatal epithelium, bone and muscle, which contribute to tissue integrity. ICR mice (10-12 weeks old) were used. TCDD was administered on E12.5 at 40 mg/kg. Immunohistochemical staining for AhR, ER-α, laminin, collagen IV, osteopontin, Runx2, MyoD, and desmin were performed. Furthermore, western blot analysis for osteopontin, Runx2, MyoD, and desmin were performed to evaluate protein expression in the palatal tissue. Immunohistologically, there was little difference in the collagen IV and laminin localization in the palatal epithelium between control versus TCDD-treated mice. Runx2 and osteopontin immunoreactivity decreased in the TCDD-treated palatal bone, and MyoD and desmin decreased in the TCDD-treated palatal muscle. AhR and ER-α immunoreactivity were localized to the normal palatal bone, but ER-α was diminished in the TCDD-treated palate. On western blot analysis, Runx2, MyoD, and desmin were all downregulated in the TCDD-treated palate. TCDD may suppress palatal osteogenesis and myogenesis via AhR, and cause cleft palates via a post-fusional split mechanism, in addition to a failure of palatal fusion.

  17. Cleft lip and palate genetics and application in early embryological development

    Directory of Open Access Journals (Sweden)

    Yu Wenli

    2009-10-01

    Full Text Available The development of the head involves the interaction of several cell populations and coordination of cell signalling pathways, which when disrupted can cause defects such as facial clefts. This review concentrates on genetic contributions to facial clefts with and without cleft palate (CP. An overview of early palatal development with emphasis on muscle and bone development is blended with the effects of environmental insults and known genetic mutations that impact human palatal development. An extensive table of known genes in syndromic and non-syndromic CP, with or without cleft lip (CL, is provided. We have also included some genes that have been identified in environmental risk factors for CP/L. We include primary and review references on this topic.

  18. Management of feeding Problem in a Patient with Cleft Lip/Palate.

    Science.gov (United States)

    Goswami, Mridula; Jangra, Babita; Bhushan, Urvashi

    2016-01-01

    In a child with cleft lip and/or palate, nutrition is the first priority as for any other child. These children have specific physical limitations. To fulfill their nutritional requirement, these children need modifications in order to thrive and grow. Failure to adjust to these needs could place the children into a potential life-threatening situation. One of the immediate problems to be addressed in a newborn with cleft lip/palate is difficulty in feeding. Nasal regurgitation and choking are common because of inability of the palate to separate the nasal and oral cavities. The case presented here discusses the management of feeding problem in the infant with cleft lip/palate. How to cite this article: Goswami M, Jangra B, Bhushan U. Management of feeding Problem in a Patient with Cleft Lip/ Palate. Int J Clin Pediatr Dent 2016;9(2):143-145. PMID:27365936

  19. Cleft lip and palate genetics and application in early embryological development.

    Science.gov (United States)

    Yu, Wenli; Serrano, Maria; Miguel, Symone San; Ruest, L Bruno; Svoboda, Kathy K H

    2009-10-01

    The development of the head involves the interaction of several cell populations and coordination of cell signalling pathways, which when disrupted can cause defects such as facial clefts. This review concentrates on genetic contributions to facial clefts with and without cleft palate (CP). An overview of early palatal development with emphasis on muscle and bone development is blended with the effects of environmental insults and known genetic mutations that impact human palatal development. An extensive table of known genes in syndromic and non-syndromic CP, with or without cleft lip (CL), is provided. We have also included some genes that have been identified in environmental risk factors for CP/L. We include primary and review references on this topic.

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

    DEFF Research Database (Denmark)

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

    2007-01-01

    Maternal smoking is a recognized risk factor for orofacial clefts. Maternal or fetal pharmacogenetic variants are plausible modulators of this risk. In this work, we studied 5,427 DNA samples, including 1,244 from subjects in Denmark and Iowa with facial clefting and 4,183 from parents, siblings......, or unrelated population controls. We examined 25 single-nucleotide polymorphisms in 16 genes in pathways for detoxification of components of cigarette smoke, to look for evidence of gene-environment interactions. For genes identified as related to oral clefting, we studied gene-expression profiles in fetal...... development in the relevant tissues and time intervals. Maternal smoking was a significant risk factor for clefting and showed dosage effects, in both the Danish and Iowan data. Suggestive effects of variants in the fetal NAT2 and CYP1A1 genes were observed in both the Iowan and the Danish participants...