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Sample records for apert syndrome paternal

  1. Apert Syndrome.

    PubMed

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

  2. Apert's Syndrome

    PubMed Central

    Jyothsna, Mandapati; Ahmed, Syed Basheer; Sree Lakshmi, Ketham Reddy

    2014-01-01

    ABSTRACT Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma­tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and sagittal hypoplasia with concomitant dental crowding, skeletal and dental anterior open bite and several retained primary teeth. We report one such case of 14-year-old boy having all the classical features of Apert's syndrome with particular emphasis on brief review of genetic features. How to cite this article: Kumar GR, Jyothsna M, Ahmed SB, Lakshmi KRS. Apert's Syndrome. Int J Clin Pediatr Dent 2014;7(1):69-72. PMID:25206244

  3. Apert Syndrome: A Case Report

    PubMed Central

    Chatra, Laxmikanth; Shenai, Prashanth; Veena, KM

    2012-01-01

    Abstract Apert syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malformation and symmetrical syndactyly. We present a 10-month-old infant having all the features of classical Apert syndrome. How to cite this article: Khan S, Chatra L, Shenai P, Veena KM. Apert Syndrome: A Case Report. Int J Clin Pediatr Dent 2012; 5(3):203-206. PMID:25206168

  4. Apert syndrome: a case report.

    PubMed

    Khan, Saba; Chatra, Laxmikanth; Shenai, Prashanth; Veena, Km

    2012-09-01

    Apert syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malformation and symmetrical syndactyly. We present a 10-month-old infant having all the features of classical Apert syndrome. How to cite this article: Khan S, Chatra L, Shenai P, Veena KM. Apert Syndrome: A Case Report. Int J Clin Pediatr Dent 2012; 5(3):203-206.

  5. Apert syndrome: A case report

    PubMed Central

    Ileri, Zehra; Goyenc, Yasar Bedii

    2012-01-01

    The purpose of this report is to present Apert syndrome patient by highlighting craniofacial characteristics and orthodontic approach to treatment. The patient, a 16-day-old female and the second child of healthy parents, was admitted to our department with primary complaint of cleft palate. She had a cone-shaped calvarium, midface hypoplasia, syndactyly of the hands and feet, hypertelorism, proptosis and cleft palate. After taking maxillary impression, an acrylic appliance was applied to orientate the growing and enable the feeding. A case with Apert syndrome undergoes the orthodontic treatment for a long time and also a multidisciplinary approach is essential to determine the best collaborative corrective plan for the deficiencies of the patient. PMID:22229016

  6. Apert, Crouzon and Other Craniosynostosis Syndromes.

    ERIC Educational Resources Information Center

    Hospital for Sick Children, Toronto (Ontario).

    This booklet discusses the impact and treatment of the two craniosynostosis syndromes (Apert and Crouzon), which involve the premature fusion of skull sutures, are usually identified at birth, and require years of treatment. It is noted that children with Apert syndrome may have some degree of mental retardation while children with Crouzon…

  7. Apert, Crouzon and Other Craniosynostosis Syndromes.

    ERIC Educational Resources Information Center

    Hospital for Sick Children, Toronto (Ontario).

    This booklet discusses the impact and treatment of the two craniosynostosis syndromes (Apert and Crouzon), which involve the premature fusion of skull sutures, are usually identified at birth, and require years of treatment. It is noted that children with Apert syndrome may have some degree of mental retardation while children with Crouzon…

  8. Dental development in Apert syndrome.

    PubMed

    Kaloust, S; Ishii, K; Vargervik, K

    1997-03-01

    Apert syndrome has been extensively studied and described. However, an area that has not been studied is the dental development of these individuals. The purpose of this study was to evaluate the development of the dentition and compare it with that of unaffected children. There appears to be clinical observations indicating delayed eruption of the permanent teeth in the Apert child. This retrospective study examined all Apert syndrome patients from four craniofacial centers who had a panoramic radiograph taken before the age of 16 years. Thirty-six individuals, 19 boys and 17 girls ranging in age from 4.1 to 15.8 (mean = 9.3) years were examined. The seven left mandibular permanent teeth, second molar to central incisor, were rated on an eight-stage scale (A-H) using methods described by Demirjian and Goldstein (1976). The stage of each tooth was converted to the corresponding numeric value, and then all seven values were added to obtain a dental maturity score, which corresponded to a dental age, based on the sample of 4500+ normal children of the Demirjian et al. study. The dental age and chronologic age were length of delay was also determined. Thirty-one of 36 individuals had a dental age lower than their chronologic age. Compared to the normal sample, the mean developmental dental delay was 0.96 years (p < .001). The range in delay was 0.5 years advanced to 2.9 years delayed. There was a positive correlation to increased age with greater delay in dental development (p < .05). Our study confirmed our clinical impressions: The results showed a mean developmental delay of 0.96 years, with a trend of increasing delay with increased age. This positive correlation found between increased age and increased delay parallels the general growth of Apert children, with a greater degree of delay as the child grows older.

  9. Le syndrome d'apert

    PubMed Central

    Benmiloud, Sarra; Chaouki, Sana; Atmani, Samir; Hida, Moustapha

    2013-01-01

    Le syndrome d'Apert est une affection congénitale rare, caractérisée par une sténose cranio-faciale associée à une syndactylie des mains et des pieds. Sa prise en charge doit être précoce et multidisciplinaire. Sa gravité réside dans la coexistence de plusieurs malformations avec un risque d'hypertension intracrânienne chronique responsable d'une cécité et d'une débilité mentale. Les auteurs rapportent une nouvelle observation à travers laquelle ils illustrent les aspects cliniques et évolutifs ainsi que les difficultés thérapeutiques de cette affection. PMID:23565313

  10. The oral manifestations of Apert syndrome.

    PubMed

    Kreiborg, S; Cohen, M M

    1992-01-01

    As part of an ongoing study of 119 patients with the Apert syndrome, extensive data were available for the analysis of oral manifestations, including mouth shape, lip posture, palatal morphology, dental anomalies, and malocclusion. Findings included a characteristic trapezoidal-shaped mouth. Cleft soft palate or bifid uvula was found in approximately 75%. A Byzantine-arch shaped palate was recorded in almost all patients. Dental anomalies included severely delayed eruption, ectopic eruption, and shovel-shaped incisors. Malocclusion tended to be severe with mesial molar occlusion, mandibular overjet, anterior and posterior crossbites, and severe crowding of teeth. The oral manifestations of Apert syndrome are compared and contrasted with those of Crouzon syndrome.

  11. ORAL FINDINGS IN PATIENTS WITH APERT SYNDROME

    PubMed Central

    Dalben, Gisele da Silva; Neves, Lucimara Teixeira das; Gomide, Marcia Ribeiro

    2006-01-01

    Introduction: The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or surgical management, with little emphasis on the oral aspects. Objective: to investigate the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and soft tissue alterations, in subjects with Apert syndrome. Material and methods: clinical and radiographic examination of nine patients with Apert syndrome, aged 6 to 15 years, not previously submitted to orthodontic or orthognathic treatment. Results: dental anomalies were present in all patients, with one to eight anomalies per individual. The most frequent anomalies were tooth agenesis, mainly affecting maxillary canines, and enamel opacities (44.4% for both). Ectopic eruption of maxillary first molars was found in 33.3% of patients; lateral palatal swellings were observed in 88.8% of patients. Conclusions: The occurrence of typical lateral palatal swellings agrees with the literature. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome. PMID:19089249

  12. Oral findings in patients with Apert syndrome.

    PubMed

    Dalben, Gisele da Silva; das Neves, Lucimara Teixeira; Gomide, Marcia Ribeiro

    2006-12-01

    The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or surgical management, with little emphasis on the oral aspects. To investigate the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and soft tissue alterations, in subjects with Apert syndrome. Clinical and radiographic examination of nine patients with Apert syndrome, aged 6 to 15 years, not previously submitted to orthodontic or orthognathic treatment. Dental anomalies were present in all patients, with one to eight anomalies per individual. The most frequent anomalies were tooth agenesis, mainly affecting maxillary canines, and enamel opacities (44.4% for both). Ectopic eruption of maxillary first molars was found in 33.3% of patients; lateral palatal swellings were observed in 88.8% of patients. The occurrence of typical lateral palatal swellings agrees with the literature. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome.

  13. Craniofacial team management in Apert syndrome.

    PubMed

    Oberoi, Snehlata; Hoffman, William Y; Vargervik, Karin

    2012-04-01

    Apert syndrome is one of the rarest of the craniosynostosis syndromes. Affected persons have extensive structural and functional impairments, some of which can be life threatening. Management requires team care from infancy to adulthood. The purposes of this article are to assess the outcomes in individuals with Apert syndrome after completion of treatment and to review current protocols for craniofacial team care and dental, orthodontic, and orthognathic surgical management. This was a retrospective cohort study of 8 subjects with Apert syndrome. Cephalograms at 2 time points were compared: adolescence (before midface advancement) and at least 1 year after advancement. The cephalometric values were compared with paired t tests. Team protocols are delineated. Measurements indicating forward positioning of the maxilla increased significantly: SNA by 10.7° (P = 0.002) and midface length by 9.6 mm (P = 0.002). Sagittal jaw relationship improved significantly as well: ANB by 14° (P = 0.004) and the Wits appraisal by 8 mm (P = 0.003). Vertical dimensions also increased. All individuals had significantly improved and stable positions of the midface and normalized facial profiles after treatment. Copyright © 2012 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

  14. Mandibular asymmetry in patients with the crouzon or apert syndrome.

    PubMed

    Elmi, P; Reitsma, J H; Buschang, P H; Wolvius, E B; Ongkosuwito, E M

    2015-05-01

    The aim of this study was to describe directional and fluctuating mandibular asymmetry over time in children with Crouzon or Apert syndrome. Mandibular asymmetry of children between 7.5 and 14 years of age with Crouzon syndrome (n = 35) and Apert syndrome (n = 24) were compared with controls (n = 327). From panoramic radiographs, mandibular directional and fluctuating asymmetry was determined for the three groups. Multilevel statistical techniques were used to describe mandibular asymmetry changes over time. Patients with Crouzon and Apert syndromes showed statistically significant more fluctuating asymmetry for mandibular measures than did controls. Between the Crouzon and Apert syndromes groups, no statistical differences were found in directional and fluctuating asymmetry. The control group showed statistically significantly more directional asymmetry than did patients with Crouzon or Apert syndrome. The controls showed no change over time for the directional asymmetry of condylar-ramal height; however, the directional asymmetry of the gonial angle increased. Patients with Crouzon syndrome showed side dominance for only condylar-ramal height; whereas, patients with Apert syndrome did not show dominance for any of the measurements. Apert and Crouzon syndromes showed developmental instability, in contrast to the controls. No statistically significant longitudinal differences were found for either the directional or the fluctuating asymmetry between Crouzon and Apert syndromes. Findings for fluctuating and directional asymmetry for both syndromes may indicate an inability to cope with genetic and environmental stress during development and treatment, compared with untreated nonsyndromic individuals.

  15. Raised intracranial pressure in Apert syndrome.

    PubMed

    Marucci, Damian D; Dunaway, David J; Jones, Barry M; Hayward, Richard D

    2008-10-01

    Raised intracranial pressure is a well-known complication of Apert syndrome. The current policy in the authors' unit is to monitor these patients and only perform surgery when raised intracranial pressure has been diagnosed. The authors present their experience with this protocol, as it allows a more accurate picture of the natural history of raised intracranial pressure in Apert syndrome. The records of 24 patients, aged between 7 and 14 years, with Apert syndrome who had been managed expectantly (i.e., with no routine "automatic" early surgery) were reviewed. Data were collected on the incidence, timing, and management of raised intracranial pressure. Twenty of 24 patients (83 percent) developed raised intracranial pressure. The average age of the first episode was 18 months (range, 1 month to 4 years 5 months). Raised intracranial pressure was managed with surgery in 18 patients, including two patients who underwent shunt procedures for hydrocephalus. Two patients had their raised intracranial pressure treated successfully by correcting coexisting upper airway obstruction alone. Seven of the 20 patients (35 percent) developed a second episode of raised intracranial pressure, on average 3 years 4 months later (range, 1 year 11 months to 5 years 9 months). In Apert syndrome, there is a high incidence of raised intracranial pressure, which can first occur at any age up to 5 years and may recur despite initial successful treatment. Causes of raised intracranial pressure include craniocerebral disproportion, venous hypertension, upper airway obstruction, and hydrocephalus. Careful clinical, ophthalmologic, respiratory, and radiologic monitoring will allow raised intracranial pressure to be diagnosed accurately when it occurs and then treated most appropriately.

  16. Apert syndrome: a case report with discussion of craniofacial features.

    PubMed

    Paravatty, R P; Ahsan, A; Sebastian, B T; Pai, K M; Dayal, P K

    1999-06-01

    Apert syndrome is a rare congenital anomaly characterized by acrocephaly, syndactyly, and abnormalities of other organs. It has characteristic features in the orofacial region, affecting the eyes, palate, middle third of face, and uvula. In this case report, the features of Apert syndrome, particularly in relation to the orofacial region, are discussed.

  17. Apert's syndrome: Report of a rare case.

    PubMed

    Bhatia, Parul V; Patel, Purv S; Jani, Yesha V; Soni, Naresh C

    2013-05-01

    Apert's syndrome (AS), a form of acrocephalosyndactyly, is a rare congenital disorder with autosomal dominant mode of transmission; characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. The rarity of the syndrome and similarity of features with other craniosynostosis syndromes makes it a diagnostic dilemma. Genetic counseling and early intervention form an essential part of treatment. Because of the paucity of reported cases in Indian literature and typical features in oral cavity, a dentist should be competent to diagnose and form a part of the multidisciplinary management team. Here, we report a case of a 14-year-old boy with AS.

  18. Anterior Plagiocephaly in an Atypical Case of Apert Syndrome

    PubMed Central

    Gupta, Madhumita; Pai, Ashwin Alke; Bhattacharya, Abhimanyu; Ramachandra, Ravi; Sawarappa, Raghavendra; Mohapatra, Subhakanta; Kanoi, Aditya

    2013-01-01

    Apert syndrome is a congenital craniosynostosis syndrome comprising of bilateral coronal synostosis , symmetric syndactyly of hands and feet and midface hypoplasia. We present an atypical phenotype of this syndrome with right sided unilateral coronal synostosis. However, type I apert hand and other clinical and radiological features suggestthe diagnosis. Genetic analysis revealed an absence of the specific missense mutations in the FGFR 2 gene that is found in patients with this syndrome. We conclude that this patient represented a rare atypical variant of Apert syndrome. Further analysis is required to map the associated genotype. PMID:25489515

  19. Apert syndrome: A case report and review of the literature.

    PubMed

    Koca, Tuba Tulay

    2016-01-01

    Apert syndrome is the rare acrocephalosyndactyly syndrome type 1, characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene. Presently described is case of a 19-year-old female patient diagnosed on physical examination with Apert syndrome based on acrocephaly, prominent forehead, ocular hypertelorism, proptosis, short and broad nose, pseudoprognathism, dental crowding and ectopia, maxillar hypoplasia, low hairline, webbed neck, pectus excavatum, and severe, bilateral syndactyly of hands and feet. The multiple phenotypic signs of Apert syndrome make multidisciplinary team, including dentist, neurosurgeon, plastic surgeon, physiatrist, ophthalmologist, perinatalogist and geneticist, essential for successful management.

  20. Is craniofacial morphology in Apert and Crouzon syndromes the same?

    PubMed

    Kreiborg, S; Cohen, M M

    1998-12-01

    This article reviews previous research on the craniofacial development in Apert and Crouzon syndromes and adds new roentgencephalometric information. It is concluded that craniofacial development in the two syndromes is not the same. Marked differences were found in the calvaria, cranial base, orbit, maxilla, zygoma, incisal occlusion, and soft tissue profile. In general, abnormal craniofacial morphology was more severe in Apert syndrome than in Crouzon syndrome.

  1. Cervical spine in the Apert syndrome.

    PubMed

    Kreiborg, S; Barr, M; Cohen, M M

    1992-07-01

    Radiographs of the cervical spine--in many cases longitudinal--were available for study in 68 cases of Apert syndrome. Autopsy material was available in one of these cases, and a 3-dimensional reconstruction from a CT scan was also studied in one case. Variable degrees of fusion were observed, involving the articular facets, the neural arch or transverse processes, or block fusion of the vertebral bodies. Ossification may not always be evident in some early radiographs. However, early radiographic signs of impending fusion may be irregularity in vertical orientation of the vertebral bodies and narrowing of the involved intervertebral spaces. Cervical fusions occurred in 68%, single fusions being found in 37%, and multiple fusions in 31%. C5-C6 fusion was most common, alone or in combination with other fusions. In contrast, cervical fusions are known to occur in 25% of Crouzon patients, most commonly involving C2-C3 only. It appears that when fusions are present, C5-C6 involvement in the Apert syndrome and C2-C3 involvement in the Crouzon syndrome separate the 2 conditions in most cases. Because cervical anomalies may complicate an already compromised airway in any form of acrocephalosyndactyly, it is imperative to initiate radiographic study of the cervical spine before undertaking anesthesia for surgery.

  2. Dentofacial characteristics in Apert syndrome: a case report.

    PubMed

    Batra, P; Duggal, R; Parkash, Hari

    2002-09-01

    Apert's syndrome is a developmental malformation characterized by craniosynostosis, a cone shaped calvarium, midface hypoplasia, pharyngeal attenuation, ocular manifestations and syndactyly of the hands and feet. The prodromal characteristic for the typical craniofacial appearance is early craniosynostosis of the coronal suture, cranial base and an agenesis of the sagittal suture. These craniofacial characteristics predispose the patient to maxillary transverse and sagittal hypoplasia with concomitant dental crowding, a pseudo cleft palate and a skeletal and dental anterior open bite. A case of Apert syndrome is presented with special emphasis on craniofacial characteristics and multidisciplinary approach to treatment. The differences between Apert and Crouzon's syndrome are highlighted.

  3. Evaluation of the maxillofacial morphological characteristics of Apert syndrome infants.

    PubMed

    Kakutani, Hitomi; Sato, Yoshiaki; Tsukamoto-Takakusagi, Yuri; Saito, Fumio; Oyama, Akihiko; Iida, Junichiro

    2017-01-01

    Apert syndrome is a rare craniosynostosis syndrome characterized by irregular craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet. Previous studies analyzed individuals with Apert syndrome and reported some facial and intraoral features caused by severe maxillary hypoplasia. However, these studies were performed by analyzing both individuals who had and those had not received a palate repair surgery, which had a high impact on the maxillary growth and occlusion. To highlight the intrinsic facial and intraoral features of Apert syndrome, five Japanese individuals with Apert syndrome from 5 years and 2 months to 9 years and 10 months without cleft palate were analyzed in this study. A concave profile and a skeletal Class III jaw-base relationship caused by severe maxillary hypoplasia were seen in all patients. The patients exhibited anterior and posterior crossbites possibly due to a small dental arch of Maxilla. © 2016 Japanese Teratology Society.

  4. The dental development in patients with Aperts syndrome.

    PubMed

    Woods, Eva; Parekh, Susan; Evans, Robert; Moles, David R; Gill, Daljit

    2015-03-01

    The aim of this retrospective study was to quantify the level of dental developmental delay in a group of patients with Aperts syndrome when compared to matched controls. Twenty-six Dental Panoramic Tomographic (DPT) radiographs of patients with Apert syndrome attending Great Ormond Street Hospital were compared to controls (n = 29) from the Eastman Dental Hospital, UK. Dental development was assessed using the staging systems of Demirjian and Haavikko, and dental age (DA) was estimated using the weighted averages method. Dental age, as estimated using the 12 stages of Haavikko and eight stages of Demirjian, suggested no statistical evidence of developmental delay between the Aperts and control group. The hypothesis 'that there is no difference in the dental development of subjects with Apert syndrome, when compared to a group of matched controls', was accepted. © 2014 BSPD, IAPD and John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  5. Oral features in Apert syndrome: a histological investigation.

    PubMed

    Surman, T L; Logan, R M; Townsend, G C; Anderson, P J

    2010-02-01

    The number of publications on the oral features in Apert syndrome is limited. The present study investigated dental tissues in Apert syndrome histologically, to determine the nature and extent of anomalies, to provide some insight into the nature of the condition, and to explain how observed anomalies may affect the dental management of individuals with Apert syndrome. Extracted primary and secondary teeth were collected from patients with Apert who had attended the Australian Craniofacial Unit, Adelaide, South Australia. The total study sample comprised 13 individuals, aged from 14 to 21 , with nine men and four women. A total of 40 teeth were available for histological examination (the number belonging to each individual varied from 2 to 5 per patient). The teeth were sectioned longitudinally, and one-half of each tooth underwent decalcification. Sections were stained with H&E for routine histological examination. Ground sections were prepared from undecalcified tooth halves. Histological assessment of the dental hard tissues revealed an intact enamel and dentinal structure but some irregularities were noted in the region of the dentino-enamel junction (DEJ), which could affect caries progression and also make dental management more difficult. This study identified histological anomalies of the DEJ of Apert syndrome teeth. An improved appreciation of the nature and extent of dental anomalies in Apert syndrome should assist clinicians when undertaking management of affected individuals.

  6. Analysis of midface retrusion in Crouzon and Apert syndromes.

    PubMed

    Forte, Antonio Jorge; Alonso, Nivaldo; Persing, John A; Pfaff, Miles J; Brooks, Eric D; Steinbacher, Derek M

    2014-08-01

    Midface retrusion is the hallmark of the syndromic dysostoses (i.e., Crouzon and Apert). Lack of forward projection and/or structural deficiency could be responsible, but neither has been adequately assessed three-dimensionally. The authors examined both the cranial base/facial interface and the midface volume to provide an understanding of the etiopathogenesis of midface deficiency. Children with computed tomographic scans in the absence of any surgical intervention were included. Demographic information was recorded for three groups: Apert, Crouzon, and control. Scans were digitized and manipulated using Materialise software (Surgicase CMF). Craniometric data relating to the midface and sphenoid were collected. Volumetric assessment of the midface was tabulated. Statistical analysis was performed using the t test. Thirty-six scans were included (control, n=17; Crouzon/Apert, n=19). All children were in the early mixed dentition stage. The anterior cranial fossa proved to be shorter and wider in Crouzon/Apert patients compared with controls. The cranial base angles (N-S-BA, N-S-SO, N-SO-BA, S-SO-BA, and N-S-AR) were not statistically different across the groups. The Crouzon/Apert group showed angles more obtuse between the greater wings of the sphenoid, and more obtuse (more splayed) between the pterygoid plates. Nasion-sella-pterygomaxillary fissure angle was more obtuse (flatter) in the Crouzon/Apert group. There was no volumetric difference in the maxilla, zygoma, and sphenoid comparing the Crouzon/Apert group to controls. Midface retrusion in the Crouzon/Apert group is associated with altered sphenoid morphology (widened and retruded pterygoid plates), with a flatter and wider maxilla, suggesting diminished growth inferiorly and anteriorly. There is no volumetric deficiency in Crouzon/Apert patients compared with controls. Risk, II.

  7. Orbital Dysmorphology in Untreated Children with Crouzon and Apert Syndromes.

    PubMed

    Forte, Antonio Jorge; Steinbacher, Derek M; Persing, John A; Brooks, Eric D; Andrew, Tom W; Alonso, Nivaldo

    2015-11-01

    Orbital dysmorphology and midface retrusion are the hallmarks of Crouzon and Apert syndromes. The precise nature of this deficiency is not known. Untreated Crouzon and Apert syndrome patients and age- and sex-matched controls were included. Computed tomographic scans were digitized and reconstructed. Craniometric and volumetric data relating to the orbit were collected. Thirty-one scans were included (control, n = 12; Crouzon; n = 9; Apert, n = 10). The mean age of the Apert group was 5.31 ± 5 years; Crouzon, 5.77 ± 2.7 years; and control, 6.4 ± 3.6 years. The bony orbit length was 12 percent shorter in Apert (p = 0.004) and 17 percent shorter in the Crouzon group when compared to controls (p < 0.0001). The bony orbital volume was 21 percent smaller in the Apert children (p = 0.0006) and 23 percent smaller in Crouzon when compared to controls (p = 0.003). Globe volume was 15 percent larger in Apert (p = 0.008) and 36 percent larger in the Crouzon group when compared to controls (p < 0.0001). Orbital soft-tissue volume was 19 percent less in the Apert group (p = 0.004) and 29 percent less in the Crouzon group (p = 0.001) when compared to controls. A shortened bony orbit, decreased orbital and orbital soft-tissue volumes, and an increased volume of the globe were found in both conditions. Despite normal volume of the overall orbital contents, the contents are altered, and the bony orbit is shorter and holds less volume.

  8. Apert syndrome: A case report and review of the literature

    PubMed Central

    Koca, Tuba Tulay

    2016-01-01

    Apert syndrome is the rare acrocephalosyndactyly syndrome type 1, characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene. Presently described is case of a 19-year-old female patient diagnosed on physical examination with Apert syndrome based on acrocephaly, prominent forehead, ocular hypertelorism, proptosis, short and broad nose, pseudoprognathism, dental crowding and ectopia, maxillar hypoplasia, low hairline, webbed neck, pectus excavatum, and severe, bilateral syndactyly of hands and feet. The multiple phenotypic signs of Apert syndrome make multidisciplinary team, including dentist, neurosurgeon, plastic surgeon, physiatrist, ophthalmologist, perinatalogist and geneticist, essential for successful management. PMID:28058401

  9. Multiple radiopaque mandibular lesions in a patient with Apert syndrome.

    PubMed

    Costa, Fábio Wildson Gurgel; Rodrigues, Rodrigo Rodrigues; Batista, Ana Cristina Beviláqua; Ribeiro, Thyciana Rodrigues; Pereira, Karuza Maria Alves

    2012-12-01

    Apert syndrome (acrocephalosyndactyly) is a rare congenital malformation characterized by craniosynostosis, craniofacial anomalies, and symmetric syndactyly of the hands and feet. Oral manifestations usually include bifid uvula, a Byzantine arch palate associated with lateral swellings of the palatine processes, severe maxillary dental crowding associated with teeth malposition, severe open bite, dental caries, and gingival and periodontal disorders. Florid osseous dysplasia is an asymptomatic lesion mostly encountered during casual dental radiographic examinations as multiple sclerotic masses in 2 or more quadrants, usually in tooth-bearing regions. A 32-year-old woman diagnosed with Apert syndrome was seen in our department for a routine dental examination. Radiographic evaluation showed multiple radiopaque lesions in the mandible. All teeth with radiopaque lesions gave positive responses to vitality tests, and the patient did not report any symptoms. Based on the clinical and radiographic findings, the diagnosis of florid osseous dysplasia in a patient with Apert syndrome was made. Because there were no signs of an intraoral infectious process or endodontic needs, the patient was followed during revisions for Apert syndrome, and the only treatment provided was conservative management of the many carious lesions observed during the clinical examination. To our knowledge, this is the first study reporting the occurrence of florid osseous dysplasia in a patient with Apert syndrome. Conservative management should be performed in asymptomatic cases. Although rare, our case report highlights the importance of florid osseous dysplasia as a condition that may mimic lesions with an endodontic origin in patients with Apert syndrome. Crown Copyright © 2012. Published by Elsevier Inc. All rights reserved.

  10. Anesthetic management of craniosynostosis repair in patient with Apert syndrome

    PubMed Central

    Kumar, Niraj; Arora, Shubhangi; Bindra, Ashish; Goyal, Keshav

    2014-01-01

    Apert syndrome is an autosomal dominant disease characterized by craniosynostosis, midface hypoplasia and syndactyly. In general, patients present in early childhood for craniofacial reconstruction surgery. Anesthetic implications include difficult airway, airway hyper-reactivity; however, possibility of raised intracranial pressure especially when operating for craniosynostosis and associated congenital heart disease should not be ignored. Most of the cases described in literature talk of management of syndactyly. We describe the successful anesthetic management of a patient of Aperts syndrome with craniosynostosis posted for bicornual strip craniotomy and fronto-orbital advancement in a 5-year-old child. PMID:25191197

  11. Treatment timing and multidisciplinary approach in Apert syndrome

    PubMed Central

    Fadda, Maria Teresa; Ierardo, Gaetano; Ladniak, Barbara; Di Giorgio, Gianni; Caporlingua, Alessandro; Raponi, Ingrid; Silvestri, Alessandro

    2015-01-01

    Summary Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal sutures and less frequently lambdoid suture) resulting in brachiturricephalic dismorphism and impaired skull base growth. After this brief explanation it is clear that these anatomical abnormalities may have a negative impact on the ability to perform essential functions. Due to the complexity of the syndrome a multidisciplinary (respiratory, cerebral, maxillo-mandibular, dental, ophthalmic and orthopaedic) approach is necessary in treating the psychological, aesthetic and functional issues. The aim of this paper is to analyse the different functional issues and surgical methods trying to enhance results through a treatment plan which includes different specialities involved in Apert syndrome treatment. Reduced intellectual capacity is associated to the high number of general anaesthesia the small patients are subject to. Therefore the diagnostic and therapeutic treatment plan in these patients has established integrated and tailored surgical procedures based on the patients’ age in order to reduce the number of general anaesthesia, thus simplifying therapy for both Apert patients and their family members. PMID:26330906

  12. Treatment timing and multidisciplinary approach in Apert syndrome.

    PubMed

    Fadda, Maria Teresa; Ierardo, Gaetano; Ladniak, Barbara; Di Giorgio, Gianni; Caporlingua, Alessandro; Raponi, Ingrid; Silvestri, Alessandro

    2015-01-01

    Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal sutures and less frequently lambdoid suture) resulting in brachiturricephalic dismorphism and impaired skull base growth. After this brief explanation it is clear that these anatomical abnormalities may have a negative impact on the ability to perform essential functions. Due to the complexity of the syndrome a multidisciplinary (respiratory, cerebral, maxillo-mandibular, dental, ophthalmic and orthopaedic) approach is necessary in treating the psychological, aesthetic and functional issues. The aim of this paper is to analyse the different functional issues and surgical methods trying to enhance results through a treatment plan which includes different specialities involved in Apert syndrome treatment. Reduced intellectual capacity is associated to the high number of general anaesthesia the small patients are subject to. Therefore the diagnostic and therapeutic treatment plan in these patients has established integrated and tailored surgical procedures based on the patients' age in order to reduce the number of general anaesthesia, thus simplifying therapy for both Apert patients and their family members.

  13. Ocular manifestations of Apert and Crouzon syndromes: qualitative and quantitative findings.

    PubMed

    Kreiborg, Sven; Cohen, M Michael

    2010-09-01

    There are significant differences in the ocular manifestations of Apert and Crouzon syndromes. Here, we present qualitative and quantitative data about the oculo-orbital region to demonstrate these differences. Although ocular protosis and hypertelorism characterize both disorders, the nature of the orbital dystopia differs. In Crouzon syndrome, ocular proptosis is primarily caused by retrusion of the lateral and inferior orbital margins with a very short orbital floor. In Apert syndrome, the eyeglobe actually protrudes in relation to the cranial base and to the orbit, probably resulting from marked protrusion of the lateral orbital wall. The implications account for some of the differences encountered. Asymmetry is associated with Apert syndrome frequently. Exotropia is found in Crouzon syndrome, whereas the V pattern is more characteristic in Apert syndrome with divergent upgaze and esotropic downgaze. Subluxation of the eyeglobe is found in some cases of Crouzon syndrome but is not found in Apert syndrome. Optic atrophy found in approximately 20% of Crouzon syndrome patients is not characteristic of Apert syndrome. Structural alterations of the extraocular muscles have been associated with some cases of Apert syndrome, suggesting that ocular motility disturbances in Apert syndrome may not be caused solely by mechanical factors. Absence of the superior rectus and other extraocular muscles has been recorded. Furthermore, albinoid alterations of the fundus have also been associated with Apert syndrome.

  14. Alternative Methods for Nasotracheal Intubation and Extubation in a Patient With Apert Syndrome

    PubMed Central

    Tsukamoto, Masanori; Yokoyama, Takeshi

    2015-01-01

    Apert syndrome is a rare autosomal dominant disorder characterized by craniofacial abnormalities, craniosynostosis and syndactyly. Nasotracheal intubation for a patient with Apert syndrome can be a challenge because of abnormal facial anatomy. We experienced the anesthetic management of a patient with Apert syndrome who underwent partial resection of mandible and cleft palate repair with nasotracheal intubation. Nasotracheal intubation using a gastric tube and extubation using an airway exchange catheter proved useful in this case of airway compromise. PMID:26398130

  15. Alternative Methods for Nasotracheal Intubation and Extubation in a Patient With Apert Syndrome.

    PubMed

    Tsukamoto, Masanori; Yokoyama, Takeshi

    2015-01-01

    Apert syndrome is a rare autosomal dominant disorder characterized by craniofacial abnormalities, craniosynostosis and syndactyly. Nasotracheal intubation for a patient with Apert syndrome can be a challenge because of abnormal facial anatomy. We experienced the anesthetic management of a patient with Apert syndrome who underwent partial resection of mandible and cleft palate repair with nasotracheal intubation. Nasotracheal intubation using a gastric tube and extubation using an airway exchange catheter proved useful in this case of airway compromise.

  16. Dental agenesis patterns of permanent teeth in Apert syndrome.

    PubMed

    Stavropoulos, Dimitrios; Bartzela, Theodosia; Bronkhorst, Ewald; Mohlin, Bengt; Hagberg, Catharina

    2011-06-01

    Dental agenesis may either occur as an isolated trait (non-syndromic) or as a component in a congenital syndrome. The aim of the present study was to identify the prevalence of dental agenesis for each type of tooth and to look for dental agenesis patterns in persons with Apert syndrome. Serial panoramic radiographs of 23 individuals (five male patients and 18 female patients) were examined. Third molars were excluded. The prevalence of agenesis for at least one tooth was 34.8%. Up to two missing teeth were found for individuals with Apert syndrome. Maxillary lateral incisors and mandibular second premolars were the most frequently missing teeth. Four different dental agenesis patterns of the entire dentition were identified by using the tooth agenesis code (TAC). Two patterns occurred more frequently, both of which were symmetrical. One involved the simultaneous absence of teeth 12 and 22, and the other showed agenesis of teeth 35 and 45. In conclusion, patients with Apert syndrome were found to exhibit a high prevalence of dental agenesis. All dental agenesis patterns in which more than one tooth was missing were symmetrical. © 2011 Eur J Oral Sci.

  17. An Exploration of the Cognitive, Physical and Psychosocial Development of Children with Apert Syndrome

    ERIC Educational Resources Information Center

    Hilton, Caroline

    2017-01-01

    Apert syndrome is a rare condition, with a birth prevalence of approximately one in 65,000. This article provides an up-to-date review of the literature on Apert syndrome from a variety of perspectives, ranging from surgical management to personal accounts. The purpose of the review is to provide a holistic description of the syndrome which should…

  18. An Exploration of the Cognitive, Physical and Psychosocial Development of Children with Apert Syndrome

    ERIC Educational Resources Information Center

    Hilton, Caroline

    2017-01-01

    Apert syndrome is a rare condition, with a birth prevalence of approximately one in 65,000. This article provides an up-to-date review of the literature on Apert syndrome from a variety of perspectives, ranging from surgical management to personal accounts. The purpose of the review is to provide a holistic description of the syndrome which should…

  19. Anesthetic management of a child with Apert syndrome

    PubMed Central

    Metodiev, Yavor; Gavrilova, Nadezhda; Katzarov, Atanas

    2011-01-01

    In this paper, the authors describe an anesthetic technique for a child with Apert syndrome, presenting to the operating room for a syndactyly separation. The anesthetic approach is innovative for the clinic and is a combination of intravenous anesthesia and two regional techniques (axillary block and transversus abdominis plane block, respectively). They were performed under ultrasound guidance and provided analgesia in the two body regions, which were to be operated. PMID:21655026

  20. Molding of top skull in the treatment of Apert syndrome.

    PubMed

    Shen, Weimin; Cui, Jie; Chen, Jianbin; Weiping, Shen

    2015-03-01

    Patients with Apert syndrome have bilateral coronal craniosynostosis, along with a distinguishing feature of their many deformity, called tower skull. Surgical correction of this deformity is the mainstay of treatment. We describe 3 patients molded top skull after front bone osteotomy orbital bar advancement. This successfully restricted growth of their top skull while allowing growth in other dimensions. Utilization of top-skull molding after cranial surgery shows promise of satisfaction in this setting.

  1. Central nervous system and cervical spine abnormalities in Apert syndrome.

    PubMed

    Breik, Omar; Mahindu, Antony; Moore, Mark H; Molloy, Cindy J; Santoreneos, Stephen; David, David J

    2016-05-01

    Apert syndrome characterized by acrocephalosyndactyly is a rare autosomal dominant congenital malformation with a prevalence of 1/65,000 births. With an extensive range of phenotypic and developmental manifestations, its management requires a multidisciplinary approach. A variety of craniofacial, central nervous system (CNS), and cervical spine abnormalities have been reported in these patients. This study aimed to determine the incidence of these CNS abnormalities in our case series. Retrospective review of Australian Craniofacial Unit (ACFU) database for Apert patients was performed. Data collected that included demographics, place of origin, age at presentation, imaging performed, and images were reviewed and recorded. Where available, developmental data was also recorded. Ninety-four patients seen and managed at the ACFU had their CNS and cervical spine abnormalities documented. The main CNS abnormalities were prominent convolutional markings (67 %), ventriculomegaly (48 %), crowded foramen magnum (36 %), deficient septum pellucidum (13 %), and corpus callosum agenesis in 11 %. Major C-spine findings were present in 50.8 % of patients and included fusion of posterior elements of C5/C6 (50 %) and C3/4 (27 %). Multilevel fusion was seen in 20 %. Other abnormalities were C1 spina bifida occulta (7 %) and atlanto-axial subluxation (7 %). Multiple CNS and cervical spine (c-spine) abnormalities are common in Apert syndrome. The significance of these abnormalities remains largely unknown. Further research is needed to better understand the impact of these findings on growth, development, and treatment outcomes.

  2. Dental maturation in children with the syndrome of crouzon and apert.

    PubMed

    Reitsma, Jacobus H; Balk-Leurs, Inge H; Ongkosuwito, Edwin M; Wattel, Evert; Prahl-Andersen, Birte

    2014-11-01

    Purpose : Developing teeth are used to assess maturity and estimate age in a number of disciplines. The purpose of this investigation was to study the dental maturation in children with Crouzon or Apert syndrome compared with nonsyndromic controls. Patients and Methods : Records of 40 children with Crouzon syndrome (18 boys and 22 girls, aged 4.0 to 17.9 years) and 28 children with Apert syndrome (10 boys and 18 girls, aged 3.9 to 15.1 years) were referred to the Department of Orthodontics, Cleft Palate Team and Craniofacial Team, Erasmus MC-Sophia. Data from syndromic children were compared with data from 451 nonsyndromic children (225 boys and 226 girls, aged 2.9 to 16.9 years). From panoramic radiographs, dental maturation was determined for patients with Crouzon and Apert syndromes and compared with data collected from control children. Logistic functions were constructed for dental maturation over time for syndromes and gender. Results : Statistically significant gender differences in dental maturation scores were found for girls with Crouzon (P < .05) and Apert syndrome (P < .05). Patients with Apert syndrome demonstrated a significantly delayed dental maturation (P < .05), while patients with Crouzon syndrome showed a nonsignificant delay. Conclusions : Dental maturation in patients with Apert syndrome was more delayed than in patients with Crouzon syndrome. The delay of tooth formation in patients with Crouzon or Apert syndrome suggests a possible common genetic association.

  3. Apert Syndrome: Report of a rare congenital malformation

    PubMed Central

    Rathore, Ehsan; Rathore, Altaf Hussain

    2017-01-01

    A rare case of an adult male with malformation of the skull, face, hands and feet called acrocephalosyndactly or Apert syndrome is presented. Its probable cause, features and treatment is discussed. It is a unique case who survived upto the age of 32 years without any operative intervention and adjusted in the society though he has all the stigmas of the above syndrome. We have concluded and made a point that in the adult sufferer, facial deformity is not so important and urgent for the treatment than syndactyly, which handicaps the sufferer in performing the daily routine work. PMID:28811814

  4. Apert Syndrome: Report of a rare congenital malformation.

    PubMed

    Rathore, Ehsan; Rathore, Altaf Hussain

    2017-01-01

    A rare case of an adult male with malformation of the skull, face, hands and feet called acrocephalosyndactly or Apert syndrome is presented. Its probable cause, features and treatment is discussed. It is a unique case who survived upto the age of 32 years without any operative intervention and adjusted in the society though he has all the stigmas of the above syndrome. We have concluded and made a point that in the adult sufferer, facial deformity is not so important and urgent for the treatment than syndactyly, which handicaps the sufferer in performing the daily routine work.

  5. Craniofacial Stability in Patients With Crouzon or Apert Syndrome After Le Fort III Distraction Osteogenesis.

    PubMed

    Reitsma, Jacobus H; Ongkosuwito, Edwin M; Buschang, Peter H; Adrichem, Léon N A V; Prahl-Andersen, Birte

    2013-09-01

    Objective : Le Fort III osteotomy with distraction osteogenesis (DO) is used to improve the retruded midface in patients with Crouzon or Apert syndrome. This study aimed to evaluate sagittal and vertical preoperative and postoperative cephalometric changes of DO of the midface in patients with Crouzon or Apert syndrome. Design : Population-based case-control study. Patients and Methods : Records of patients with the syndrome of Crouzon (N = 6) or Apert (N = 7) were compared, before and after Le Fort III DO, with a nonsyndromic untreated control group (N = 486). Main Outcome Measures : Sagittal and vertical cephalometric maxillary landmarks and measurements were used to predict and measure midface advancement and rotation after Le Fort III DO. Cephalograms were taken before surgery (T0), 4 months after surgery at removal of the distraction device (T1), and 1 year after removal of the distraction device (T2). Analysis : Z scores were performed to compare cephalometric measures of syndromic patients with control subjects. Results : Cephalograms of 13 patients with Crouzon syndrome (N = 6) or Apert (N = 7) (age range 8.2 to 19.8 years) were evaluated. Treatment changes (T1-T2) showed statistically significant maxillary advancement, with no significant differences between the patients with the Crouzon or Apert syndrome. Conclusions : DO of the midface in patients with Crouzon or Apert syndrome seems to be stable in the sagittal direction after follow-up. Although Crouzon and Apert differ after DO, anteroposterior craniofacial dimensions were significantly improved and were closer to patterns of normal subjects.

  6. Orthodontic and surgical treatment of a patient with Apert syndrome.

    PubMed

    Kaya, D; Taner, T; Aksu, M; Keser, E I; Tuncbilek, G; Mavili, M E

    2012-09-01

    The aim of this case report was to present the combined orthodontic and surgical treatment of a patient with Apert syndrome in an adult stage. A 15 years old male patient with Apert syndrome was concerned about the appearance of his face and malocclusion. His profile was concave with a retruded maxilla and prominent lower lip. He had an Angle class I molar relationship with a 9.5 mm anterior open bite. The amount of crowding was 20.4 mm in the maxilla and 6 mm in the mandible. Cephalometric analysis revealed a skeletal Class III relationship due to maxillary hypoplasia with a dolichofacial growth pattern. Orthodontic treatment and orthognathic surgery were planned for the patient. After 45 months of presurgical orthodontics, the patient underwent two surgeries sequentially. The first surgery was performed to advance the maxilla and the second surgery was performed to correct the mandibular rotation and increase the overbite at the time of removing halo device. The amount of maxillary advencement was 8 mm. Mandibula was moved 1.5 mm anteriorly and rotated 1° to 1.5° (SNB and facial depth) in a counterclockwise direction. After a relatively long treatment, an esthetically pleasing and functional occlusion and correction of the skeletal problem was achieved in this adult case.

  7. Preoperative and postoperative orbital volume in patients with Crouzon and Apert syndrome.

    PubMed

    Imai, Keisuke; Fujimoto, Takuya; Takahashi, Makoto; Maruyama, Yoko; Yamaguchi, Kazuaki

    2013-01-01

    Crouzon and Apert syndromes are frequently complicated by ocular abnormalities and patients with these syndromes often present with abnormal ocular morphology. The present study assesses orbital volume and ocular complications in patients associated with Crouzon and Apert syndromes.During an 8-year period starting in 2002, fronto-orbital advancement was used for cranial expansion on 23 cases of syndromic craniosynostosis. Of those, it was possible to evaluate 5 Crouzon and eight Apert syndrome cases. Orbital volume was measured using multislice CT scans. Both preoperative and postoperative orbital volumes were compared with normal orbital volume.Preoperative orbital volume was 5.8 to 10.0 cm (mean, 7.1 cm) in patients with Crouzon syndrome and 7.2 to 10.8 cm (mean, 9.1 cm) in patients with Apert syndrome. Postoperative intraorbital volume was 9.4 to 11.2 cm (mean, 10.4 cm) in patients with Crouzon syndrome and 11.6 to 13.2 cm (mean, 12.4 cm) in patients with Apert syndrome. The mean of orbital volume relative to the normal volume was 58% preoperatively and 74% postoperatively in patients with Crouzon syndrome and 69% (56-81%) preoperatively and 88% (81-95%) postoperatively in patients with Apert syndrome.In conclusion, orbital volume was smaller in the Crouzon syndrome group than in the Apert syndrome group, and symptoms, such as exophthalmos and exotropia, were noted in the Crouzon syndrome group. Orbit expansion did not fully restore normal orbital volume, but in most cases, it was useful for alleviation of preoperative symptoms (exophthalmos/eyeball prolapse, corneal erosion, conjunctivitis).

  8. Cranio-maxillofacial, orthodontic and dental treatment in three patients with Apert syndrome.

    PubMed

    Carpentier, S; Schoenaers, J; Carels, C; Verdonck, A

    2014-08-01

    Apert syndrome is a severe developmental malformation, clinically characterised by craniosynostosis, midface hypoplasia, a cone-shaped calvarium, ocular manifestations, typical dental findings and syndactyly of the hands and feet. Early craniosynostosis of the coronal suture, the cranial base and agenesis of the sagittal suture are prodromal characteristics for the typical craniofacial appearance in patients with Apert syndrome. The aim of this report was to describe the maxillofacial and orthodontic management of three patients with Apert syndrome who attended the Craniofacial, Maxillofacial and Orthodontic clinics of the University Hospitals of the KU Leuven (Belgium). The typical clinical features, the general orthognathic treatment approach as well as individual approaches of three patients with Apert syndrome are being highlighted. The three patients with Apert syndrome have been followed up very closely by all involved specialised departments as well as by multidisciplinary teams from birth. This report demonstrated that a combined orthodontic and orthognathic surgical treatment plan could significantly improve the occlusal function as well as the facial and occlusal aesthetics in patients with Apert syndrome.

  9. A longitudinal study of dental arch morphology in children with the syndrome of Crouzon or Apert.

    PubMed

    Reitsma, Jacobus H; Elmi, Poejan; Ongkosuwito, Edwin M; Buschang, Peter H; Prahl-Andersen, Birte

    2013-08-01

    The aim of this study was to compare changes in dental arch morphology between patients with Crouzon syndrome or Apert syndrome and controls. Children between 4 and 14 yr of age with Crouzon syndrome (n = 40) or Apert syndrome (n = 28) were compared with non-syndromic controls (n = 457) in terms of arch widths, depths, and length dimensions. Multilevel statistical modeling techniques were used to evaluate changes over time. Dental arch dimensions were found to be smaller in patients with Crouzon syndrome or Apert syndrome compared with control subjects. Maxillary intercanine width for patients with Apert syndrome were increased, whilst other arch width variables showed no change. Patients with Crouzon syndrome showed increases in maxillary intercanine width, whilst intermolar width showed no change over time. Dental arch dimensions in syndromic patients were thus found to be consistently smaller than in control subjects between 4 and 14 yr of age, implying that patients with Crouzon syndrome and Apert syndrome had a diminished growth potential. © 2013 Eur J Oral Sci.

  10. Patterns of tooth agenesis in patients with crouzon or apert syndrome.

    PubMed

    Reitsma, Jacobus H; Ongkosuwito, Edwin M; van Wijk, Arjen J; Prahl-Andersen, Birte

    2014-03-01

    Dental agenesis is the most common anomaly of dental development and can be a component of a congenital syndrome. The purpose of this study was to evaluate the prevalence of agenesis and to describe patterns of tooth agenesis in patients with Crouzon or Apert syndrome compared with nonsyndromic controls. Longitudinal records of 67 patients with Crouzon syndrome (n = 39) or Apert syndrome (n = 28) from the Erasmus Medical Centre were examined. Syndromic patients were compared with patients in a nonsyndromic control group (n = 284). Prevalence of tooth agenesis in patients with Crouzon syndrome (35.9%) and patients with Apert syndrome (46.4%) was significantly higher than the prevalence in control subjects (27.5%) (P < .005). In all groups third molars were the most likely to be agenetic. Tooth agenesis excluding third molars was significantly higher in syndromic patients than in control subjects (P < .001). Bilateral agenesis of mandibular second premolars occurred significantly more often in patients with Crouzon and Apert syndrome than in control subjects (P < .001). Tooth agenesis is more prevalent in patients with Crouzon or Apert syndrome than in control subjects. Tooth agenesis and mandibular symmetrical patterns of second premolar agenesis are more prevalent in syndromic patients.

  11. Apert's Syndrome: Report of a New Case and its Management.

    PubMed

    Dixit, Shweta; Singh, Asha; Gs, Mamatha; S Desai, Rajiv; Jaju, Prashant

    2008-09-01

    In this article, an interesting case of Apert syndrome in a 14-year-old boy with characteristic craniosynostosis, acrocephaly, midface hypoplasia, pharyngeal attenuation, ocular manifestations, and syndactyly of the hands and feet is presented. The case is discussed in the light of relevant literature. A precise clinical differentiation must be made since considerable overlap of the features of various other syndromes could give rise to difficulties in diagnosing this condition. Besides detection and timely recognition of the syndrome to allow adequate dental care, screening at periodic intervals is merited to improve the overall quality of life of these patients. Clinical relevanceThis paper highlights the importance of the dentist as well as the specialist in the recognition and oral care of children with this syndrome.Children with teeth of unusual anatomy present a challenge for conventional dentistry.It is important for a pedodontist to evaluate and intervene the malrelationship of the jaws to reduce the complexity of further orthodontic treatment. Objectives statement: The reader should understand the clinical implications of recognition of this syndrome and provision of early treatment, with a purpose to reducing the duration and complexity of further treatment.

  12. Facial growth in patients with apert and crouzon syndromes compared to normal children.

    PubMed

    Reitsma, Jacobus H; Ongkosuwito, Edwin M; Buschang, Peter H; Prahl-Andersen, Birte

    2012-03-01

    To evaluate vertical and sagittal facial growth in children with Apert and Crouzon syndromes and compare it to the growth patterns of a nonsyndromic control group. Case-control study. Department of Orthodontics, Children's Hospital Erasmus Medical Centre, Sophia, Rotterdam, The Netherlands. Sixty-two patients (37 patients with Crouzon syndrome and 25 patients with Apert syndrome) born between 1971 and 2001 (age range 3.9 to 32 years) and 482 nonsyndromic children as a control group. Lateral cephalograms performed prior to any midfacial surgery of 62 patients and 482 nonsyndromic children were traced and horizontal and vertical measurements were digitized. Cephalometric measurements of SNA, SNB, ANB, NSMe, and SN/palatal plane angles and lower facial height ratio. Horizontal measurements for the syndromic groups showed no change in SNA angle during growth. SNA angles were lower in patients with Apert syndrome compared to patients with Crouzon syndrome. The syndromic groups showed smaller values for ANB angles compared to the nonsyndromic group. Vertical measurements showed increased lower facial height ratios for the syndromic groups compared to control subjects. There was an increasing counterclockwise rotation of the palatal plane in relation to the anterior cranial base in syndromic patients. NSMe angles among the three groups were not significantly different. Based on the growth differences identified, the sagittal and vertical jaw relationships differ in patients with Crouzon syndrome, patients with Apert syndrome, and control subjects. Syndromic patients show aggravation of midfacial underdevelopment and anterior rotation of the mandible.

  13. Apert syndrome with glucose-6-phosphate dehydrogenase deficiency: a case report.

    PubMed

    Tosun, G; Sener, Y

    2006-05-01

    Apert syndrome is characterized by midface hypoplasia, syndactyly of the hands and feet, proptosis of eyes, steep and flat frontal bones, and premature union of cranial sutures. Maxillary hypoplasia, deep palatal vault, anterior open bite, crowding of the dental arch, severely delayed tooth eruption, and dental malocclusion are the main oral manifestations of this syndrome. In this report, a case of Apert syndrome with glucose-6-phosphate dehydrogenase (G(6)PD) deficiency is presented. The patient, a 4-year-old male and the fourth child of healthy parents, was admitted to our department because of delayed tooth eruption. He had all the cardinal symptoms of the Apert syndrome. Clinical examination revealed that primary centrals, canines and first molars erupted; however, primary second molars and laterals had not erupted. The patient had no dental caries. Preventive treatments were applied, and subsequently, the patient was taken to long-term follow up.

  14. Oblique osteotomy and coronoidectomy in extreme prognathism of Apert syndrome.

    PubMed

    Hwang, Kun; Kim, Dong Hyun

    2010-03-01

    We report a case of oblique osteotomy and coronoidectomy for correction of extreme prognathism in Apert syndrome.A 16-year-old girl presented with a prognathic mandible. A prototype model was formed using computed tomography. After a mock bilateral oblique osteotomy of the mandible, the distal segment did not overlap the proximal segment, and it caused bony impingement between the coronoid process and the subcondyle of the proximal segment. An oblique osteotomy of the mandible was done through a submandibular approach, and bilateral coronoidectomy followed. After surgery, mandibular parameters were reviewed. The mandibular plane-Frankfort horizontal (MP/FH) angle decreased from 44 to 11 degrees; and the mandibular plane-sella nasion (MP/SN) angle, from 52 to 17 degrees. The mandible rotated backward and caudally after the surgery.It is predictable that there will be a bony impingement between the coronoid process and the subcondyle of the proximal segment before surgery, and so an oblique osteotomy and coronoidectomy are planned ahead through an external approach.

  15. Patient-reported quality of life in highest-functioning Apert and Crouzon syndromes: a comparative study.

    PubMed

    Raposo-Amaral, Cassio Eduardo; Neto, José Garcia Junqueira; Denadai, Rafael; Raposo-Amaral, Cassio Menezes; Raposo-Amaral, Cesar Augusto

    2014-02-01

    Crouzon and Apert syndromes are the most common syndromic forms of craniofacial dysostosis. Apert syndrome has a broad clinical spectrum, including complex craniofacial involvement, as well as limiting deformities of the hands, feet, and other joints that require multiple surgical procedures when compared with Crouzon syndrome, which is generally less severe. The authors hypothesized that the quality of life of Apert syndrome patients is inferior to that of Crouzon syndrome patients. The quality of life of Apert (n = 8) and Crouzon (n = 12) syndrome patients was assessed using the World Health Organization Quality of Life-100 questionnaire. The Mann-Whitney test was used to compare the quality-of-life scores between Apert and Crouzon patients. Values were considered significant for a confidence interval of 95 percent (p < 0.05). Apert patients showed an overall higher (score > 60 percent) quality of life in most World Health Organization Quality of Life-100 facets (68 percent) and domains (83.33 percent), with significance (p < 0.05) in three facets (energy and fatigue, mobility, and environment in the home), compared with Crouzon patients. Contrary to the authors' initial hypothesis, both the highest-functioning Apert patients and the Crouzon patients presented a satisfactory quality of life, demonstrating that these syndromic patients had acquired the necessary repertoire to manage the adverse daily situations of their lives.

  16. Comparing patients with Apert and Crouzon syndromes--clinical features and cranio-maxillofacial surgical reconstruction.

    PubMed

    Stavropoulos, Dimitrios; Tarnow, Peter; Mohlin, Bengt; Kahnberg, Karl-Erik; Hagberg, Catharina

    2012-01-01

    Cranio-maxillofacial malformations, as seen in Crouzon and Apert syndromes, may impose an immense distress on both function and aesthetics of the person affected. The aims of this study were to describe and compare the main facial and intraoral features of patients with Apert and Crouzon syndromes, the clinical manifestations that may be present, additionally to the main syndromic traits, as well as the cranio-maxillofacial surgical treatment protocols followed.Twenty-three patients with Apert syndrome (6 males, 17 females), and 28 patients with Crouzon syndrome (20 males, 8 females) were evaluated for general medical aspects, craniofacial characteristics, dentoalveolar traits before and after the final orthognathic surgery, and types and timing of cranio-maxillofacial operations. Mental retardation, associated additional malformations, cleft palate, and extensive lateral palatal soft tissue swellings were more common in children with Apert syndrome. In both syndromes, clinical findings included concave profile, negative overjet, posterior crossbites, anterior openbite, and dental midline deviation, which were corrected in almost all cases with the final orthognathic surgery, with the exception of the lateral crossbites, including more than one tooth pair, which were persisting in about half of the cases. Cranial vault decompression and/or reshaping, midfacial and orbital advancement procedures, often in conjunction with a mandibular setback, were the most frequent cranio-maxillofacial operations performed. In conclusion, Apert syndrome is more asymmetric in nature and a more severe clinical entity than Crouzon syndrome. The syndromic dentofacial features of both conditions could be significantly improved after a series of surgical procedures in almost all cases with the exception of the posterior crossbites, with haIf of them persisting post-surgically.

  17. From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome.

    PubMed

    Martínez-Abadías, Neus; Holmes, Greg; Pankratz, Talia; Wang, Yingli; Zhou, Xueyan; Jabs, Ethylin Wang; Richtsmeier, Joan T

    2013-05-01

    Apert syndrome is a congenital disorder characterized by severe skull malformations and caused by one of two missense mutations, S252W and P253R, on fibroblast growth factor receptor 2 (FGFR2). The molecular bases underlying differential Apert syndrome phenotypes are still poorly understood and it is unclear why cleft palate is more frequent in patients carrying the S252W mutation. Taking advantage of Apert syndrome mouse models, we performed a novel combination of morphometric, histological and immunohistochemical analyses to precisely quantify distinct palatal phenotypes in Fgfr2(+/S252W) and Fgfr2(+/P253R) mice. We localized regions of differentially altered FGF signaling and assessed local cell patterns to establish a baseline for understanding the differential effects of these two Fgfr2 mutations. Palatal suture scoring and comparative 3D shape analysis from high resolution μCT images of 120 newborn mouse skulls showed that Fgfr2(+/S252W) mice display relatively more severe palate dysmorphologies, with contracted and more separated palatal shelves, a greater tendency to fuse the maxillary-palatine sutures and aberrant development of the inter-premaxillary suture. These palatal defects are associated with suture-specific patterns of abnormal cellular proliferation, differentiation and apoptosis. The posterior region of the developing palate emerges as a potential target for therapeutic strategies in clinical management of cleft palate in Apert syndrome patients.

  18. From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome

    PubMed Central

    Martínez-Abadías, Neus; Holmes, Greg; Pankratz, Talia; Wang, Yingli; Zhou, Xueyan; Jabs, Ethylin Wang; Richtsmeier, Joan T.

    2013-01-01

    SUMMARY Apert syndrome is a congenital disorder characterized by severe skull malformations and caused by one of two missense mutations, S252W and P253R, on fibroblast growth factor receptor 2 (FGFR2). The molecular bases underlying differential Apert syndrome phenotypes are still poorly understood and it is unclear why cleft palate is more frequent in patients carrying the S252W mutation. Taking advantage of Apert syndrome mouse models, we performed a novel combination of morphometric, histological and immunohistochemical analyses to precisely quantify distinct palatal phenotypes in Fgfr2+/S252W and Fgfr2+/P253R mice. We localized regions of differentially altered FGF signaling and assessed local cell patterns to establish a baseline for understanding the differential effects of these two Fgfr2 mutations. Palatal suture scoring and comparative 3D shape analysis from high resolution μCT images of 120 newborn mouse skulls showed that Fgfr2+/S252W mice display relatively more severe palate dysmorphologies, with contracted and more separated palatal shelves, a greater tendency to fuse the maxillary-palatine sutures and aberrant development of the inter-premaxillary suture. These palatal defects are associated with suture-specific patterns of abnormal cellular proliferation, differentiation and apoptosis. The posterior region of the developing palate emerges as a potential target for therapeutic strategies in clinical management of cleft palate in Apert syndrome patients. PMID:23519026

  19. Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome.

    PubMed

    Lomri, A; Lemonnier, J; Hott, M; de Parseval, N; Lajeunie, E; Munnich, A; Renier, D; Marie, P J

    1998-03-15

    Apert syndrome, associated with fibroblast growth factor receptor (FGFR) 2 mutations, is characterized by premature fusion of cranial sutures. We analyzed proliferation and differentiation of calvaria cells derived from Apert infants and fetuses with FGFR-2 mutations. Histological analysis revealed premature ossification, increased extent of subperiosteal bone formation, and alkaline phosphatase- positive preosteoblastic cells in Apert fetal calvaria compared with age-matched controls. Preosteoblastic calvaria cells isolated from Apert infants and fetuses showed normal cell growth in basal conditions or in response to exogenous FGF-2. In contrast, the number of alkaline phosphatase- positive calvaria cells was fourfold higher than normal in mutant fetal calvaria cells with the most frequent Apert FGFR-2 mutation (Ser252Trp), suggesting increased maturation rate of cells in the osteoblastic lineage. Biochemical and Northern blot analyses also showed that the expression of alkaline phosphatase and type 1 collagen were 2-10-fold greater than normal in mutant fetal calvaria cells. The in vitro production of mineralized matrix formed by immortalized mutant fetal calvaria cells cultured in aggregates was also increased markedly compared with control immortalized fetal calvaria cells. The results show that Apert FGFR-2 mutations lead to an increase in the number of precursor cells that enter the osteogenic pathway, leading ultimately to increased subperiosteal bone matrix formation and premature calvaria ossification during fetal development, which establishes a connection between the altered genotype and cellular phenotype in Apert syndromic craniosynostosis.

  20. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

    PubMed

    Glaser, R L; Jiang, W; Boyadjiev, S A; Tran, A K; Zachary, A A; Van Maldergem, L; Johnson, D; Walsh, S; Oldridge, M; Wall, S A; Wilkie, A O; Jabs, E W

    2000-03-01

    Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant craniosynostotic disorders that can be caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine the parental origin of these FGFR2 mutations, the amplification refractory mutation system (ARMS) was used. ARMS PCR primers were developed to recognize polymorphisms that could distinguish maternal and paternal alleles. A total of 4,374 bases between introns IIIa and 11 of the FGFR2 gene were sequenced and were assayed by heteroduplex analysis, to identify polymorphisms. Two polymorphisms (1333TA/TATA and 2710 C/T) were found and were used with two previously described polymorphisms, to screen a total of 41 families. Twenty-two of these families were shown to be informative (11 for Crouzon syndrome and 11 for Pfeiffer syndrome). Eleven different mutations in the 22 families were detected by either restriction digest or allele-specific oligonucleotide hybridization of ARMS PCR products. We molecularly proved the origin of these different mutations to be paternal for all informative cases analyzed (P=2. 4x10-7; 95% confidence limits 87%-100%). Advanced paternal age was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome, compared with the fathers of control individuals (34. 50+/-7.65 years vs. 30.45+/-1.28 years, P<.01). Our data on advanced paternal age corroborates and extends previous clinical evidence based on statistical analyses as well as additional reports of advanced paternal age associated with paternal origin of three sporadic mutations causing Apert syndrome (FGFR2) and achondroplasia (FGFR3). Our results suggest that older men either have accumulated or are more susceptible to a variety of germline mutations.

  1. Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome

    PubMed Central

    Glaser, Rivka L.; Jiang, Wen; Boyadjiev, Simeon A.; Tran, Alissa K.; Zachary, Andrea A.; Van Maldergem, Lionel; Johnson, David; Walsh, Sinead; Oldridge, Michael; Wall, Steven A.; Wilkie, Andrew O. M.; Jabs, Ethylin Wang

    2000-01-01

    Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant craniosynostotic disorders that can be caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine the parental origin of these FGFR2 mutations, the amplification refractory mutation system (ARMS) was used. ARMS PCR primers were developed to recognize polymorphisms that could distinguish maternal and paternal alleles. A total of 4,374 bases between introns IIIa and 11 of the FGFR2 gene were sequenced and were assayed by heteroduplex analysis, to identify polymorphisms. Two polymorphisms (1333TA/TATA and 2710 C/T) were found and were used with two previously described polymorphisms, to screen a total of 41 families. Twenty-two of these families were shown to be informative (11 for Crouzon syndrome and 11 for Pfeiffer syndrome). Eleven different mutations in the 22 families were detected by either restriction digest or allele-specific oligonucleotide hybridization of ARMS PCR products. We molecularly proved the origin of these different mutations to be paternal for all informative cases analyzed (P=2.4×10-7; 95% confidence limits 87%–100%). Advanced paternal age was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome, compared with the fathers of control individuals (34.50±7.65 years vs. 30.45±1.28 years, P<.01). Our data on advanced paternal age corroborates and extends previous clinical evidence based on statistical analyses as well as additional reports of advanced paternal age associated with paternal origin of three sporadic mutations causing Apert syndrome (FGFR2) and achondroplasia (FGFR3). Our results suggest that older men either have accumulated or are more susceptible to a variety of germline mutations. PMID:10712195

  2. Apert Syndrome: Report of a Case with Emphasis on Oral Manifestations

    PubMed Central

    Vadiati Saberi, B.; Shakoorpour, A.

    2011-01-01

    To report the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and periodontal disease and soft tissue alterations, in a subject with Apert syndrome. Clinical and radiographic examination of a patient with Apert syndrome, aged 21 years old, not previously submitted for orthodontic or orthognathic treatment. Dental anomalies were present in a patient. Intraoral evaluation revealed poor oral hygiene with varying degrees of periodontal involvement, an arched swelling (pseudo cleft configuration), class III malocclusion, anterior open bite, posterior crossbite, supernumerary teeth, ectopic eruption and creamy white enamel opacities, an excessively large appearing tongue and a v-shaped maxillary arch. The occurrence of typical lateral palatal swellings agrees with the literature. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome. PMID:21998814

  3. Apert syndrome: report of a case with emphasis on oral manifestations.

    PubMed

    Vadiati Saberi, B; Shakoorpour, A

    2011-01-01

    To report the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and periodontal disease and soft tissue alterations, in a subject with Apert syndrome. Clinical and radiographic examination of a patient with Apert syndrome, aged 21 years old, not previously submitted for orthodontic or orthognathic treatment.Dental anomalies were present in a patient. Intraoral evaluation revealed poor oral hygiene with varying degrees of periodontal involvement, an arched swelling (pseudo cleft configuration), class III malocclusion, anterior open bite, posterior crossbite, supernumerary teeth, ectopic eruption and creamy white enamel opacities, an excessively large appearing tongue and a v-shaped maxillary arch. The occurrence of typical lateral palatal swellings agrees with the literature. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome.

  4. Syndrome d'Apert chez un congolais de 60 ans: à propos d'une observation

    PubMed Central

    Ngombe, Léon Kabamba; Kabamba, Christophe Mwamba; Nday, David Kakez; Fundi, Jimmy Ngoie; Kitenge, Tony Kayembe; Numbi, Luboya

    2015-01-01

    Le syndrome d'Apert est une rare acrocéphalosyndactylie caractérisée par une dysmorphie crânio-faciale avec une crâniosténose, une syndactylie aux mains et aux pieds et d'autres malformations cérébrales. La coexistence de plusieurs malformations avec un important lot de préjudices esthétiques constitue la gravité de ce syndrome. Une prise en charge précoce et multidisciplinaire s'avère important. Les auteurs rapportent une observation rare d'un syndrome d'apert chez un patient congolais âgé de 60 ans qui n'a jamais bénéficié d'une prise en charge. Ainsi, cette observation décrit les aspects cliniques et évolutifs de cette affection. PMID:26309466

  5. Apert syndrome: report of a case with emphasis on craniofacial and genetic features.

    PubMed

    Martelli, Hercílio; Paranaíba, Lívia Maris Ribeiro; de Miranda, Roseli Teixeira; Orsi, Julian; Coletta, Ricardo D

    2008-01-01

    Apert syndrome is 1 of the 5 craniosynostosis syndromes that shore clinical features and are caused by allelic mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. The purpose of this paper was to report a case of Apert syndrome, with particular emphasis on craniofacial and genetic features, in a 5-year-old female patient. The patient presented with several craniofacial deformities, including severe brachycephaly, midface hypoplasio, flat forehead, proptosis, hypertelorism, and short nose with a bulbous tip. Syndactylies of the hands and feet were also observed. Intraoral findings included arched palate with pseudocleft in the midline, upper lip with symmetric depression resembling pseudoclefts, severe malocclusion, and several decoyed teeth. DNA sequence and restriction enzyme analysis showed a G to C transversion, resulting in a serine to tryptophan amino acid substitution at position 252 (S252W). Identification of the clinical features associated with mutation analysis is important to correctly diagnose Apert syndrome and distinguish it from other clinically similar craniosynostosis syndromes.

  6. Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.

    PubMed

    Fernandes, Marilyse B L; Maximino, Luciana P; Perosa, Gimol B; Abramides, Dagma V M; Passos-Bueno, Maria Rita; Yacubian-Fernandes, Adriano

    2016-06-01

    Apert and Crouzon are the most common craniosynostosis syndromes associated with mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. We conducted a study to examine the molecular biology, brain abnormalities, and cognitive development of individuals with these syndromes. A retrospective longitudinal review of 14 patients with Apert and Crouzon syndromes seen at the outpatient Craniofacial Surgery Hospital for Rehabilitation of Craniofacial Anomalies in Brazil from January 1999 through August 2010 was performed. Patients between 11 and 36 years of age (mean 18.29 ± 5.80), received cognitive evaluations, cerebral magnetic resonance imaging, and molecular DNA analyses. Eight patients with Apert syndrome (AS) had full scale intelligence quotients (FSIQs) that ranged from 47 to 108 (mean 76.9 ± 20.2), and structural brain abnormalities were identified in five of eight patients. Six patients presented with a gain-of-function mutation (p.Ser252Trp) in FGFR2 and FSIQs in those patients ranged from 47 to78 (mean 67.2 ± 10.7). One patient with a gain-of-function mutation (p.Pro253Arg) had a FSIQ of 108 and another patient with an atypical splice mutation (940-2A →G) had a FSIQ of 104. Six patients with Crouzon syndrome had with mutations in exons IIIa and IIIc of FGFR2 and their FSIQs ranged from 82 to 102 (mean 93.5 ± 6.7). These reveal that molecular aspects are another factor that can be considered in studies of global and cognitive development of patients with Apert and Crouzon syndrome (CS). © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  7. Dental, orthodontic, and oral/maxillofacial evaluation and treatment in Apert syndrome.

    PubMed

    Ferraro, N F

    1991-04-01

    Although the cause of the midfacial anomalies in Apert syndrome is still elusive, a great experience has accrued in the management of these physically and psychologically handicapping deformities. An interdisciplinary approach that includes input from an orthodontist, pediatric dentist, and oral and maxillofacial surgeon should be an integral part of the management of affected patients. This theme of surgical-orthodontic-dental communication and interaction is stressed and illustrated throughout the article.

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

    SciTech Connect

    Slaney, S.F.; Oldridge, M.; Wilkie, A.O.M.

    1996-05-01

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

  9. Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

    PubMed Central

    Park, W J; Theda, C; Maestri, N E; Meyers, G A; Fryburg, J S; Dufresne, C; Cohen, M M; Jabs, E W

    1995-01-01

    A phenotypic and genotypic survey was conducted on 36 Apert syndrome patients. In all but one patient, an FGFR2 mutation, either S252W or P253R, was found in exon IIIa (exon U or 7). The frequency was 71% and 26%, for the mutations S252W and P253R, respectively. These mutations occur in the linker region between immunoglobulin-like domains II and III, which are involved in activation of the receptor by ligand binding and dimerization. The fact that one patient did not have a mutation in the same exon suggests further genetic heterogeneity in Apert syndrome. The frequencies of occurrence or means for measurements of 29 different clinical features (including severity of craniofacial features, syndactyly of the hands and feet, and multisystem involvement) were determined for all patients and for the two subgroups defined by their mutations. Comparison between the subgroups for the different clinical features was performed and suggested no statistically significant differences. These results are not unexpected, because the two common mutations for Apert syndrome alter FGFR2 at adjacent amino acids that are likely to have similar biological, and therefore phenotypic, consequences. Images Figure 2 Figure 3 Figure 4 PMID:7668257

  10. Analysis of phenotypic features and FGFR2 mutations in Apert syndrome

    SciTech Connect

    Park, Woo-Jin; Theda, C.; Maestri, N.E.

    1995-08-01

    A phenotypic and genotypic survey was conducted on 36 Apert syndrome patients. In all but one patient, an FGFR2 mutation, either S252W or P253R, was found in exon IIIa (exon U or 7). The frequency was 71% and 26% for the mutations S252W and P253R, respectively. These mutations occur in the linker region between immunoglobulin-like domains II and III, which are involved in activation of the receptor by ligand binding and dimerization. The fact that one patient did not have a mutation in the same exon suggests further genetic heterogeneity in Apert syndrome. The frequencies of occurrence or means for measurements of 29 different clinical features (including severity of craniofacial features, syndactyly of the hands and feet, and multisystem involvement) were determined for all patients and for the two subgroups defined by their mutations. Comparison between the subgroups for the different clinical features was performed and suggested no statistically significant differences. These results are not unexpected, because the two common mutations for Apert syndrome alter FGFR2 at adjacent amino acids that are likely to have similar biological, and therefore phenotypic, consequences. 34 refs., 4 figs., 1 tab.

  11. Upper airway endoscopy to optimize obstructive sleep apnea treatment in Apert and Crouzon syndromes.

    PubMed

    Doerga, Priya N; Spruijt, Bart; Mathijssen, Irene M J; Wolvius, Eppo B; Joosten, Koen F M; van der Schroeff, Marc P

    2016-02-01

    Obstructive sleep apnea (OSA) is highly prevalent in children with Apert and Crouzon syndromes. Although often related to midface hypoplasia, it is a multi-level problem for which routine midface advancement might be a suboptimal treatment choice. We therefore wished to: 1.) use upper airway endoscopy to examine the level of obstruction in children with OSA; 2.) determine the relationship between endoscopic assessment and OSA severity; and 3.) evaluate the effect of surgery on endoscopic assessment and OSA severity. Prospective observational cohort study of patients considered for midface advancement, underwent upper airway endoscopy. Endoscopy findings were scored according to the system of Bachar, based on level (nose, uvulopalatine plane, tongue base, hypopharynx and larynx); and severity (no, partial or complete obstruction). Polysomnography was used to diagnose OSA. We included 22 children (Apert N = 10, Crouzon N = 12), 17 had OSA, 14 of whom had multilevel obstruction and 3 single-level obstruction. The endoscopy findings were correlated with OSA severity: R = 0.56, P = 0.01. Midface advancement (N = 8) reduced Bachar's severity index in 7 of 8 patients, and OSA in all patients. OSA in children with Apert or Crouzon syndrome is often a multi-level problem. Upper airway endoscopy is essential to optimizing OSA treatment. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  12. First Vault Expansion in Apert and Crouzon-Pfeiffer Syndromes: Front or Back?

    PubMed

    Spruijt, Bart; Rijken, Bianca F M; den Ottelander, Bianca K; Joosten, Koen F M; Lequin, Maarten H; Loudon, Sjoukje E; van Veelen, Marie-Lise C; Mathijssen, Irene M J

    2016-01-01

    Children with Apert and Crouzon-Pfeiffer syndromes are at risk of intracranial hypertension. Until 2005, when the authors switched to occipital expansion, their institution's preferred treatment was fronto-orbital advancement. However, it was still unclear whether (1) occipitofrontal head circumference (i.e., intracranial volume) was greater after occipital expansion than after fronto-orbital advancement; (2) the incidences of tonsillar herniation and papilledema were lower; and (3) visual acuity was better during follow-up. In these patients, the authors therefore compared fronto-orbital advancement with occipital expansion as the first surgical procedure. Measurements included repeated occipitofrontal head circumference as a measure for intracranial volume; neuroimaging to evaluate tonsillar herniation; funduscopy to identify papilledema; and visual acuity testing. The authors included 37 patients (Apert syndrome, n = 18; Crouzon-Pfeiffer syndrome, n = 19). Eighteen underwent fronto-orbital advancement and 19 underwent occipital expansion (age at surgery, 1.0 versus 1.5 years; p = 0.13). Follow-up time in both groups was 5.7 years. The increase in occipitofrontal head circumference (+1.09 SD) was greater after occipital expansion than after fronto-orbital advancement (+0.32 SD) (p = 0.03). After occipital expansion, fewer patients with Crouzon-Pfeiffer syndrome had tonsillar herniation (occipital, three of 11; fronto-orbital advancement, seven of eight; p = 0.02); for both syndromes together, fewer patients had papilledema (occipital, four of 19; fronto-orbital advancement, 11 of 18; p = 0.02). Visual acuity was similar after fronto-orbital advancement and occipital expansion (0.09 versus 0.13 logarithm of the minimum angle of resolution) (p = 0.28). The authors' preference for occipital expansion as the initial craniofacial procedure in Apert and Crouzon-Pfeiffer syndromes is supported by the greater increase it produces in intracranial volume (as evidenced by

  13. Papilledema in patients with Apert, Crouzon, and Pfeiffer syndrome: prevalence, efficacy of treatment, and risk factors.

    PubMed

    Bannink, Natalja; Joosten, Koen F M; van Veelen, Marie-Lise C; Bartels, Marjolijn C; Tasker, Robert C; van Adrichem, Léon N A; van der Meulen, Jacques J N M; Vaandrager, J Michiel; de Jong, Tjeerd H R; Mathijssen, Irene M J

    2008-01-01

    Patients with syndromic craniosynostosis are at risk for elevated intracranial pressure because of various physiologic and anatomic abnormalities. The aims of this study were to determine the prevalence of papilledema in syndromic craniosynostosis, to evaluate the results of the treatment, and to examine the risk factors. This is a retrospective study on 84 patients with Apert, Crouzon, or Pfeiffer syndrome. Papilledema was defined as blurring of the margins of the optic disk. The association between clinical symptoms, beaten-copper pattern on skull radiograph, ventricular dilatation on computed tomography scan, and papilledema was assessed. Papilledema was present in 51% of the patients. No relation between specific clinical symptoms and papilledema was found. The significant associations were complex craniosynostosis, exorbitism, and ventricular dilatation. The prevalence of papilledema in patients with Apert, Crouzon, or Pfeiffer syndrome is high, not only before cranial decompression but also after vault expansion. Annual fundoscopy is recommended to screen for papilledema. We consider that early decompressive surgery (within the first year of age) prevents the development of papilledema and, most likely, elevated intracranial pressure.

  14. Orthodontic and orthognathic management of a patient with Apert syndrome: a case report.

    PubMed

    Verdonck, Anna; Bertrand, Julie; Carels, Carine; Swinnen, Steven; Schoenaers, Joseph

    2010-06-01

    This case report describes the combined orthodontic and orthognathic management of a 14-year-old girl affected with Apert syndrome. She presented with a severe Class III skeletal relationship, midfacial hypoplasia and an large anterior open bite. Intraorally, she had severe crowding, a narrow maxilla and lateral posterior crossbites. The patient was treated with a combination of removable and fixed appliances, a transpalatal skeletal distractor and Le Fort I surgery. The extraoral characteristics improved and a good occlusal relationship between maxillary and mandibular teeth was achieved.

  15. Apert syndrome mutant FGFR2 and its soluble form reciprocally alter osteogenesis of primary calvarial osteoblasts.

    PubMed

    Suzuki, Hiroyuki; Suda, Naoto; Shiga, Momotoshi; Kobayashi, Yukiho; Nakamura, Masataka; Iseki, Sachiko; Moriyama, Keiji

    2012-09-01

    Apert syndrome is characterized by craniosynostosis and syndactyly, and is predominantly caused by mutation of either S252W or P253W in the fibroblast growth factor receptor (FGFR) 2 gene. In this study, we characterized the effects of one of the mutations (S252W) using primary calvarial osteoblasts derived from transgenic mice, Ap-Tg and sAp-Tg, that expressed an Apert-type mutant FGFR2 (FGFR2IIIc-S252W; FGFR2IIIc-Ap), and the soluble form (extracellular domain only) of the mutant FGFR2 (sFGFR2IIIc-Ap), respectively. Compared to WT-derived osteoblasts, osteoblasts from Ap-Tg mouse showed a higher proliferative activity and enhanced differentiation, while those from sAp-Tg mouse exhibited reduced potential for proliferation and osteogenic differentiation. When transplanted with β-tricalcium phosphate (β-TCP) granules into immunodeficient mice, Ap-Tg-derived osteoblasts showed a higher bone forming capacity, whereas sAp-Tg-derived osteoblasts were completely deficient for this phenotype. Phosphorylation of extracellular signal-regulated kinase (ERK), MEK, PLCγ, and p38 was increased in Ap-Tg-derived osteoblasts, whereas phosphorylation of these signaling molecules was reduced in sAp-Tg-derived osteoblasts. Interestingly, when these experiments were carried out using osteoblasts from the mice generated by crossing Ap-Tg and sAp-Tg (Ap/sAp-Tg), which co-expressed FGFR2IIIc-Ap and sFGFR2IIIc-Ap, the results were comparable to those obtained from WT-derived osteoblasts. Taken together, these results indicate that osteoblasts expressing FGFR2IIIc-Ap proliferate and differentiate via highly activated MEK, ERK, and p38 pathways, while these pathways are suppressed in osteoblasts expressing sFGFR2IIIc-Ap. Our findings also suggest that altered FGFR2IIIc signaling in osteoblasts is mostly responsible for the phenotypes seen in Apert syndrome, therefore these osteoblast cell lines are useful tools for investigating the pathogenesis of Apert syndrome. Copyright © 2011

  16. Postnatal brain and skull growth in an Apert syndrome mouse model

    PubMed Central

    Hill, Cheryl A.; Martínez-Abadías, Neus; Motch, Susan M.; Austin, Jordan R.; Wang, Yingli; Jabs, Ethylin Wang; Richtsmeier, Joan T.; Aldridge, Kristina

    2012-01-01

    Craniofacial and neural tissues develop in concert throughout pre- and postnatal growth. FGFR-related craniosynostosis syndromes, such as Apert syndrome (AS), are associated with specific phenotypes involving both the skull and the brain. We analyzed the effects of the FGFR P253R mutation for Apert syndrome using the Fgfr2+/P253R mouse to evaluate the effects of this mutation on these two tissues over the course of development from day of birth (P0) to postnatal day 2 (P2). Three-dimensional magnetic resonance microscopy and computed tomography images were acquired from Fgfr2+/P253R mice and unaffected littermates at P0 (N=28) and P2 (N=23). 3D coordinate data for 23 skull and 15 brain landmarks were statistically compared between groups. Results demonstrate that the Fgfr2+/P253R mice show reduced growth in the facial skeleton and the cerebrum, while the height and width of the neurocranium and caudal regions of the brain show increased growth relative to unaffected littermates. This localized correspondence of differential growth patterns in skull and brain point to their continued interaction through development and suggest that both tissues display divergent postnatal growth patterns relative to unaffected littermates. However, the change in the skull-brain relationship from P0 to P2 implies that each tissue affected by the mutation retains a degree of independence, rather than one tissue directing the development of the other. PMID:23495236

  17. [Brain abscess caused by Haemophilus influenzae type E in a pediatric patient suffering from Apert syndrome].

    PubMed

    Isasmendi, Adela M; Pinheiro, José L; Escudé, Natalia García; Efrón, Adriana M; Moscoloni, María A; Hernández, Claudia M

    2014-01-01

    We report a case of a brain abscess caused by Haemophilus influenzae type e in a 12 year-old patient suffering from Apert syndrome. Apert syndrome is characterized by the premature closure of cranial sutures. In 2010 the patient suffered head trauma in the frontal area with cranial fracture and a cerebrospinal fluid fistula. In February 2013 he was admitted to hospital with fever, vomiting and generalized tonic-clonic seizure with deteriorating mental status/progressive sensory impairment. The computerized axial tomographic scan showed a right frontal lesion, perilesional edema, mild ventricular dilatation and pansinusitis. A brain abscess was diagnosed and drained. The clinical sample was then cultured. A gram negative coccobacillus was isolated and identified as Haemophilus influenzae serotype e. Empirical treatment was started with meropenem (120 mg/kg/day) and vancomycin (60 mg/kg/day), which was later switched to ceftriaxone (100 mg/kg/day) and metronidazole (500 mg/8 h) after culture results arrived. The patient was discharged in good clinical condition.

  18. Frontofacial Monobloc Advancement With Simultaneous Frontal Cranioplasty in Adolescents With Residual Apert Syndrome Deformations.

    PubMed

    Laure, Boris; Joly, Aline; Moret, Audrey; Travers, Nadine; Listrat, Antoine; Goga, Dominique

    2015-10-01

    The treatment of faciocraniosynostosis has steadily evolved since the introduction of craniofacial surgery in the 1950s. The aim of this study is to demonstrate the positive results obtained by frontofacial monobloc advancement with simultaneous frontal cranioplasty in adolescents with adult facial bones and residual Apert syndrome deformations. Three adolescents underwent surgery between September 1, 2010 and March 31, 2011. All had faciocraniosynostosis in the context of Apert syndrome and had undergone brain decompression surgery during the first year of life. However, they presented intracranial hypertension. The authors carried out frontofacial monobloc advancement with internal distraction and frontal cranioplasty. The mean frontal advancement was 13.8 mm. The mean maxillary advancement was 16.3 mm. About exorbitism, 2 patients had grade III and 1 had grade I before surgery. After monobloc advancement, 2 patients had no exorbitism and 1 had grade I. About dental occlusion, 3 patients had class III before surgery and were overcorrected in class II after advancement. Frontofacial monobloc advancement yields satisfactory functional and esthetic results in these cases. In conclusion, simultaneous frontofacial monobloc advancement and cranioplasty appears to be a promising technique for the treatment of adolescents with residual craniofacial deformations.

  19. Effects of multisensory yoga on behavior in a male child with Apert and Asperger syndrome

    PubMed Central

    Scroggins, Michaela L; Litchke, Lyn G; Liu, Ting

    2016-01-01

    This case focused on a 7-year-old boy with Apert and Asperger's syndrome who attended 8, 45 min multisensory yoga sessions, twice a week, during 4-week camp. Results from the pre- and post-tests on Treatment and Research Institute for Autism Social Skills Assessment showed improvements in the total score changes from 19 to 7 for disruptive behaviors. Sparks Target Behavior Checklist scores changed from eight to one showing progression in ability to stay on task. Yoga Pose Rating Scale displayed the transformation in total scores from 80 = emerging to 115 = consistency in pose performance. The field notes revealed the positive development in expressive emotions, social engagement, and decline in looking around. Outside class parent and school behavioral specialist reported the improved ability to self-regulate stress using lion's breath and super brain. These findings indicate an improvement in behaviors that influenced the physical performance, emotional expression, and social interaction after yoga training for this child. PMID:26865777

  20. Dental and orthodontic management of patients with Apert and Crouzon syndromes.

    PubMed

    Nurko, Carlos; Quinones, Rocio

    2004-11-01

    Patients with Crouzon and Apert syndromes exhibit particular orofacial features in combination with the craniofacial skeletal discrepancy that requires reconstructive surgical maneuvers at various stages of development. To maximize positive surgical outcomes and patient satisfaction, an interdisciplinary approach, including pediatric dentistry and orthodontics, within a developmental context is needed. Routine dental care is provided in conjunction with ongoing surgical and orthodontic treatment during all phases of the reconstructive process. The goal of orthodontic treatment in the mixed dentition is to resolve issues related to the aberrant eruption of the permanent teeth and favorably influence the occlusion when early midface advancement is planned. Orthodontic treatment during adolescence always is needed to prepare these patients for orthognathic surgery, which usually involves extraction orthodontics within the maxillary arch. Postsurgical orthodontic management is an important component of the definitive occlusal correction after orthognathic surgical procedures.

  1. Effects of multisensory yoga on behavior in a male child with Apert and Asperger syndrome.

    PubMed

    Scroggins, Michaela L; Litchke, Lyn G; Liu, Ting

    2016-01-01

    This case focused on a 7-year-old boy with Apert and Asperger's syndrome who attended 8, 45 min multisensory yoga sessions, twice a week, during 4-week camp. Results from the pre- and post-tests on Treatment and Research Institute for Autism Social Skills Assessment showed improvements in the total score changes from 19 to 7 for disruptive behaviors. Sparks Target Behavior Checklist scores changed from eight to one showing progression in ability to stay on task. Yoga Pose Rating Scale displayed the transformation in total scores from 80 = emerging to 115 = consistency in pose performance. The field notes revealed the positive development in expressive emotions, social engagement, and decline in looking around. Outside class parent and school behavioral specialist reported the improved ability to self-regulate stress using lion's breath and super brain. These findings indicate an improvement in behaviors that influenced the physical performance, emotional expression, and social interaction after yoga training for this child.

  2. Surgical strategy for Apert syndrome: Retrospective study of developmental quotient and three-dimensional computerized tomography.

    PubMed

    Tomita, Shoichi; Miyawaki, Takeshi; Nonaka, Yuichirou; Sakai, Shinsuke; Nishimura, Reiji

    2017-07-01

    There are many surgical techniques for craniosynostosis. However, the indications for and timing of surgery still remain unclarified. Most of the skull growth in craniosynostosis is completed in the first year, and the bone is strong enough to undergo distraction osteogenesis. However, previous reports showed that patients operated on before 1 year of age had better IQ than those operated later in life. This report aims to consider the best timing for cranial expansion and surgical strategy for Apert syndrome. From January 2002 to December 2011, 13 patients with Apert syndrome were operated on and were followed up for more than 5 years. Nine patients underwent operations before 1 year of age (early surgery group) and three patients underwent operations later in life (late surgery group). They underwent fronto-orbital advancement for primary surgery. We evaluated postoperative developmental quotient every year and cephalic index (CI) measured by three-dimensional computerized tomography (3D-CT) at the age over 5 years retrospectively. Eleven of 13 patients improved their developmental quotient scores, with no significant intergroup differences. The CI evaluation showed cases with remnant brachycephalic deformity in both groups. Two patients with remnant plagiocephalic deformities tend to have primary surgery early in life compared to the others. Thus the delay in primary surgery had little influence on psychological development. We conclude that the primary surgery can be delayed unless the intracranial pressure needs to be controlled. In addition, fronto-orbital advancement could not sufficiently improve the brachycephalic appearance, other procedures like posterior vault distraction might be better alternatives. © 2017 Japanese Teratology Society.

  3. FGF/FGFR signaling coordinates skull development by modulating magnitude of morphological integration: evidence from Apert syndrome mouse models.

    PubMed

    Martínez-Abadías, Neus; Heuzé, Yann; Wang, Yingli; Jabs, Ethylin Wang; Aldridge, Kristina; Richtsmeier, Joan T

    2011-01-01

    The fibroblast growth factor and receptor system (FGF/FGFR) mediates cell communication and pattern formation in many tissue types (e.g., osseous, nervous, vascular). In those craniosynostosis syndromes caused by FGFR1-3 mutations, alteration of signaling in the FGF/FGFR system leads to dysmorphology of the skull, brain and limbs, among other organs. Since this molecular pathway is widely expressed throughout head development, we explore whether and how two specific mutations on Fgfr2 causing Apert syndrome in humans affect the pattern and level of integration between the facial skeleton and the neurocranium using inbred Apert syndrome mouse models Fgfr2(+/S252W) and Fgfr2(+/P253R) and their non-mutant littermates at P0. Skull morphological integration (MI), which can reflect developmental interactions among traits by measuring the intensity of statistical associations among them, was assessed using data from microCT images of the skull of Apert syndrome mouse models and 3D geometric morphometric methods. Our results show that mutant Apert syndrome mice share the general pattern of MI with their non-mutant littermates, but the magnitude of integration between and within the facial skeleton and the neurocranium is increased, especially in Fgfr2(+/S252W) mice. This indicates that although Fgfr2 mutations do not disrupt skull MI, FGF/FGFR signaling is a covariance-generating process in skull development that acts as a global factor modulating the intensity of MI. As this pathway evolved early in vertebrate evolution, it may have played a significant role in establishing the patterns of skull MI and coordinating proper skull development.

  4. FGF/FGFR Signaling Coordinates Skull Development by Modulating Magnitude of Morphological Integration: Evidence from Apert Syndrome Mouse Models

    PubMed Central

    Martínez-Abadías, Neus; Heuzé, Yann; Wang, Yingli; Jabs, Ethylin Wang; Aldridge, Kristina; Richtsmeier, Joan T.

    2011-01-01

    The fibroblast growth factor and receptor system (FGF/FGFR) mediates cell communication and pattern formation in many tissue types (e.g., osseous, nervous, vascular). In those craniosynostosis syndromes caused by FGFR1-3 mutations, alteration of signaling in the FGF/FGFR system leads to dysmorphology of the skull, brain and limbs, among other organs. Since this molecular pathway is widely expressed throughout head development, we explore whether and how two specific mutations on Fgfr2 causing Apert syndrome in humans affect the pattern and level of integration between the facial skeleton and the neurocranium using inbred Apert syndrome mouse models Fgfr2+/S252W and Fgfr2+/P253R and their non-mutant littermates at P0. Skull morphological integration (MI), which can reflect developmental interactions among traits by measuring the intensity of statistical associations among them, was assessed using data from microCT images of the skull of Apert syndrome mouse models and 3D geometric morphometric methods. Our results show that mutant Apert syndrome mice share the general pattern of MI with their non-mutant littermates, but the magnitude of integration between and within the facial skeleton and the neurocranium is increased, especially in Fgfr2+/S252W mice. This indicates that although Fgfr2 mutations do not disrupt skull MI, FGF/FGFR signaling is a covariance-generating process in skull development that acts as a global factor modulating the intensity of MI. As this pathway evolved early in vertebrate evolution, it may have played a significant role in establishing the patterns of skull MI and coordinating proper skull development. PMID:22053191

  5. Apert syndrome

    MedlinePlus

    ... genetic disease in which the seams between the skull bones close earlier than normal. This affects the ... causes some of the bony sutures of the skull to close too early. This condition is called ...

  6. Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2+P253R mice

    PubMed Central

    2010-01-01

    Background Apert syndrome is characterized by craniosynostosis and limb abnormalities and is primarily caused by FGFR2 +/P253R and +/S252W mutations. The former mutation is present in approximately one third whereas the latter mutation is present in two-thirds of the patients with this condition. We previously reported an inbred transgenic mouse model with the Fgfr2 +/S252W mutation on the C57BL/6J background for Apert syndrome. Here we present a mouse model for the Fgfr2+/P253R mutation. Results We generated inbred Fgfr2+/P253R mice on the same C56BL/6J genetic background and analyzed their skeletal abnormalities. 3D micro-CT scans of the skulls of the Fgfr2+/P253R mice revealed that the skull length was shortened with the length of the anterior cranial base significantly shorter than that of the Fgfr2+/S252W mice at P0. The Fgfr2+/P253R mice presented with synostosis of the coronal suture and proximate fronts with disorganized cellularity in sagittal and lambdoid sutures. Abnormal osteogenesis and proliferation were observed at the developing coronal suture and long bones of the Fgfr2+/P253R mice as in the Fgfr2+/S252W mice. Activation of mitogen-activated protein kinases (MAPK) was observed in the Fgfr2+/P253R neurocranium with an increase in phosphorylated p38 as well as ERK1/2, whereas phosphorylated AKT and PKCα were not obviously changed as compared to those of wild-type controls. There were localized phenotypic and molecular variations among individual embryos with different mutations and among those with the same mutation. Conclusions Our in vivo studies demonstrated that the Fgfr2 +/P253R mutation resulted in mice with cranial features that resemble those of the Fgfr2+/S252W mice and human Apert syndrome. Activated p38 in addition to the ERK1/2 signaling pathways may mediate the mutant neurocranial phenotype. Though Apert syndrome is traditionally thought to be a consistent phenotype, our results suggest localized and regional variations in the

  7. Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.

    PubMed

    Ibarra-Arce, A; Ortiz de Zárate-Alarcón, G; Flores-Peña, L G; Martínez-Hernández, F; Romero-Valdovinos, M; Olivo-Díaz, A

    2015-03-27

    Apert syndrome (AS) is a frequent acrocephalosyndactyly, with autosomal dominant inheritance. AS has been associated with mutations in fibroblast growth factor receptor 2 (FGFR2), and approximately 99% of cases show 2 of the frequent mutations located in exon IIIa (Ser252Trp or Pro253Arg). The purpose of the present study was to describe the mutations in exon IIIa of FGFR2 in Mexican AS patients and the relationships with clinical features. Exon IIIa of FGFR2 from 6 AS patients was amplified by polymerase chain reaction. Mutations in exon IIIa of the FGFR2 gene were identified by digestion with the restriction endonuclease Bstx1 and polyacrylamide gel electrophoresis. PCR fragments were cloned into the PCR 2.1 vector, and both DNA strands were sequenced using the T7 promoter and M13 universal cloning region oligonucleotides. Sequence alignment was performed using the MEGA software version 5. The patients' major clinical features included craniosynostosis, hypertelorism, proptosis, otitis media, midfacial hypoplasia, rhizomelic shortening, and hyperhidrosis. Mutation S252W was present in 4 patients, while the other 2 patients had P253R. In conclusion, either S252W or P253R mutations were present independently in AS patients; however, the 2 mutations were not found together. None of the clinical features were associated with any of the mutations, suggesting that other mutations may be involved in the development of this syndrome.

  8. Oral manifestations in Apert syndrome: case presentation and a brief review of the literature.

    PubMed

    Soancă, Andrada; Dudea, Diana; Gocan, H; Roman, Alexandra; Culic, B

    2010-01-01

    The present paper describes the oral manifestations in a 16-year-old boy previously diagnosed with Apert syndrome. The extraoral and intraoral pathological findings were recorded. The following intraoral parameters were recorded: plaque and calculus deposits, dental caries, periodontal status, malpositions, and occlusion. For the upper anterior teeth, dental shade was recorded, using a dental spectrophotometer. The corresponding diagnostics were established. A treatment plan was established and discussed with the child's parents. The dysmorphic characters were obvious, including acrocephaly, prominent forehead, hypoplastic midface, hypertelorism, short nose. The intraoral features revealed a bifid uvula and Byzantine-arch palate associated with lateral swellings of the palatine processes, one on either side of the middle miming a pseudocleft in the midline. Heavy dental plaque, dental calculus, congestion and swelling of the gingiva and periodontal pseudopockets associated with anterior teeth were recorded. Dental caries on anterior and posterior teeth were present. Severe maxillary dental crowding associated with the rotation of central incisors and the palatal position of second bicuspids and the malposition of the mandibular anterior teeth were observed. No intrinsic discoloration of the dental structure was recorded. Severe anterior and posterior open bite and crossbite were observed. Other signs were represented by syndactyly involving partial fusion of the fingers and toes. Also, mild mental deficiency was recorded. The information and the strong motivation of the parents regarding the necessity of the treatment and the extensive use of home prevention methods are essential to control oral conditions in these patients.

  9. Orthodontic treatment in combination with Le Fort II bone distraction in patient with Apert syndrome.

    PubMed

    Miyazaki, Haruyo; Katada, Hidenori; Ichinokawa, Yoshimi; Hirabayashi, Shinichi; Sueishi, Kenji

    2013-01-01

    We report a case of an 11-year-old girl presenting with Apert syndrome characterized by midface concavity, protrusion of the eyeballs, and ocular hypertelorism. She had class III anterior crossbite, narrow upper and lower arches, and marked crowding. Based on cephalometric analysis, anterior crossbite associated with marked midfacial hypoplasia was diagnosed. Orthodontic treatment in combination with Le Fort II maxillary distraction was scheduled. The dentition was laterally extended using a Rapid palatal expander in the upper jaw and a Bihelix in the lower jaw. Multi-bracket appliances were simultaneously applied for leveling. Next, Le Fort II maxillary osteotomy was performed to distract the midface bone 16 mm anteroinferiorly using a rigid external distraction system. Orthodontic treatment was completed at 3.8 years after initiation. Bone distraction moved the upper jaw anteriorly downward, and the lower jaw subsequently rotated posteriorly downward, leading to a marked improvement in facial appearance and occlusion. Elongation of the dorsum of the nose, in particular, allowed esthetic improvement of the saddle nose. These improvements remain stable at 2 years after orthodontic treatment.

  10. Textiloma of the frontal bone twenty years after craniotomy for Apert syndrome.

    PubMed

    Dimitrakopoulos, Ioannis; Ntomouchtsis, Aris; Lazaridis, Nicolaos

    2011-01-01

    The presence of intracranial foreign body granulomas is an unusual condition. They can be caused by foreign substances which are either inadvertently or deliberately left in the surgical field. Some foreign materials (textilomas, gossypibomas, gauzomas, muslinomas) along with the resulting foreign body reaction, in the surrounding tissue, can cause infection or abscess formation in an early stage whereas others remain clinically silent for many years. We present the case of a foreign body granuloma (textiloma) caused by a gauze which had been placed, during a corrective craniotomy, in a patient with Apert syndrome at the age of five. At presentation the clinical and radiological findings were suggestive of an infection. Surgical exploration of the region demonstrated the presence of gauze, in a frontal bone defect, surrounded by large masses of reactive granular tissue which were extended to the underlying dura mater. The symptoms resolved completely after the foreign body's retrieval. Foreign body granulomas, although rare, must always be taken under consideration in the differential diagnosis of craniofacial masses or procedures; especially in cases where a previous craniofacial operation has taken place. Copyright © 2010 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  11. The spectrum of Apert syndrome: phenotype, particularities in orthodontic treatment, and characteristics of orthognathic surgery.

    PubMed

    Hohoff, Ariane; Joos, Ulrich; Meyer, Ulrich; Ehmer, Ulrike; Stamm, Thomas

    2007-02-08

    In the PubMed accessible literature, information on the characteristics of interdisciplinary orthodontic and surgical treatment of patients with Apert syndrome is rare. The aim of the present article is threefold: (1) to show the spectrum of the phenotype, in order (2) to elucidate the scope of hindrances to orthodontic treatment, and (3) to demonstrate the problems of surgery and interdisciplinary approach.Children and adolescents who were born in 1985 or later, who were diagnosed with Apert syndrome, and who sought consultation or treatment at the Departments of Orthodontics or Craniomaxillofacial Surgery at the Dental School of the University Hospital of Münster (n = 22; 9 male, 13 female) were screened. Exemplarily, three of these patients (2 male, 1 female), seeking interdisciplinary (both orthodontic and surgical treatment) are presented. Orthodontic treatment before surgery was performed by one experienced orthodontist (AH), and orthognathic surgery was performed by one experienced surgeon (UJ), who diagnosed the syndrome according to the criteria listed in OMIM. In the sagittal plane, the patients suffered from a mild to a very severe Angle Class III malocclusion, which was sometimes compensated by the inclination of the lower incisors; in the vertical dimension from an open bite; and transversally from a single tooth in crossbite to a circular crossbite. All patients showed dentitio tarda, some impaction, partial eruption, idopathic root resorption, transposition or other aberrations in the position of the tooth germs, and severe crowding, with sometimes parallel molar tooth buds in each quarter of the upper jaw.Because of the severity of malocclusion, orthodontic treatment needed to be performed with fixed appliances, and mainly with superelastic wires. The therapy was hampered with respect to positioning of bands and brackets because of incomplete tooth eruption, dense gingiva, and mucopolysaccharide ridges. Some teeth did not move, or moved

  12. The spectrum of Apert syndrome: phenotype, particularities in orthodontic treatment, and characteristics of orthognathic surgery

    PubMed Central

    Hohoff, Ariane; Joos, Ulrich; Meyer, Ulrich; Ehmer, Ulrike; Stamm, Thomas

    2007-01-01

    In the PubMed accessible literature, information on the characteristics of interdisciplinary orthodontic and surgical treatment of patients with Apert syndrome is rare. The aim of the present article is threefold: (1) to show the spectrum of the phenotype, in order (2) to elucidate the scope of hindrances to orthodontic treatment, and (3) to demonstrate the problems of surgery and interdisciplinary approach. Children and adolescents who were born in 1985 or later, who were diagnosed with Apert syndrome, and who sought consultation or treatment at the Departments of Orthodontics or Craniomaxillofacial Surgery at the Dental School of the University Hospital of Münster (n = 22; 9 male, 13 female) were screened. Exemplarily, three of these patients (2 male, 1 female), seeking interdisciplinary (both orthodontic and surgical treatment) are presented. Orthodontic treatment before surgery was performed by one experienced orthodontist (AH), and orthognathic surgery was performed by one experienced surgeon (UJ), who diagnosed the syndrome according to the criteria listed in OMIM™. In the sagittal plane, the patients suffered from a mild to a very severe Angle Class III malocclusion, which was sometimes compensated by the inclination of the lower incisors; in the vertical dimension from an open bite; and transversally from a single tooth in crossbite to a circular crossbite. All patients showed dentitio tarda, some impaction, partial eruption, idopathic root resorption, transposition or other aberrations in the position of the tooth germs, and severe crowding, with sometimes parallel molar tooth buds in each quarter of the upper jaw. Because of the severity of malocclusion, orthodontic treatment needed to be performed with fixed appliances, and mainly with superelastic wires. The therapy was hampered with respect to positioning of bands and brackets because of incomplete tooth eruption, dense gingiva, and mucopolysaccharide ridges. Some teeth did not move, or moved

  13. Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report.

    PubMed

    Kunwar, Fulesh; Tewari, Shikha; Bakshi, Sonal R

    2017-01-01

    Human genetic disease needs differential diagnosis to optimize clinical management, enable prenatal detection, and genetic counselling. The current methods of robust DNA sequencing also require next generation phenotyping to match with for better interpretation of genotypic and phenotypic heterogeneity commonly observed. We report use of human ontology based phenotypic characterization with Phenomizer that gives statistical score for possible diagnoses based on which, the gene mutation was studied. A case of craniosynostosis which refers to a group of syndromes characterized by a premature fusion of skull was studied. The phenotypic features viz, dental crowding and dental malocclusion, bulbous nose, downslanted palpebral fissures, radial deviation of thumb, syndactyly of fingers, macrocephaly, and oxycephaly were entered to query the web-based tool Phenomizer which indicated high probability of mutation in FGFR2 gene. The proband, a 13-year-old male born to non-consanguineous parents showed mutation on FGFR2 gene at c.755C>G indicative of Apert syndrome. Apert syndrome is one of the most severe craniosynostosis syndromes with two possible mutations in the exon IIIa of FGFR2 gene reported in majority of the cases. This case study shows the importance of Phenomizer and molecular genetic analysis in differential diagnosis of genetic diseases.

  14. Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes.

    PubMed

    Motch Perrine, Susan M; Stecko, Tim; Neuberger, Thomas; Jabs, Ethylin W; Ryan, Timothy M; Richtsmeier, Joan T

    2017-01-01

    The brain and skull represent a complex arrangement of integrated anatomical structures composed of various cell and tissue types that maintain structural and functional association throughout development. Morphological integration, a concept developed in vertebrate morphology and evolutionary biology, describes the coordinated variation of functionally and developmentally related traits of organisms. Syndromic craniosynostosis is characterized by distinctive changes in skull morphology and perceptible, though less well studied, changes in brain structure and morphology. Using mouse models for craniosynostosis conditions, our group has precisely defined how unique craniosynostosis causing mutations in fibroblast growth factor receptors affect brain and skull morphology and dysgenesis involving coordinated tissue-specific effects of these mutations. Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and Crouzon syndromes and a mouse model carrying the FGFR2 S252W mutation, one of two mutations responsible for two-thirds of Apert syndrome cases. Using linear distances estimated from three-dimensional coordinates of landmarks acquired from dual modality imaging of skull (high resolution micro-computed tomography and magnetic resonance microscopy) of mice at embryonic day 17.5, we confirm variation in brain and skull morphology in Fgfr2c(C342Y/+) mice, Fgfr2(+/S252W) mice, and their unaffected littermates. Mutation-specific variation in neural and cranial tissue notwithstanding, patterns of integration of brain and skull differed only subtly between mice carrying either the FGFR2c C342Y or the FGFR2 S252W mutation and their unaffected littermates. However, statistically significant and substantial differences in morphological integration of brain and skull were revealed between the two mutant mouse models, each maintained on a different strain. Relative to the effects

  15. Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes

    PubMed Central

    Motch Perrine, Susan M.; Stecko, Tim; Neuberger, Thomas; Jabs, Ethylin W.; Ryan, Timothy M.; Richtsmeier, Joan T.

    2017-01-01

    The brain and skull represent a complex arrangement of integrated anatomical structures composed of various cell and tissue types that maintain structural and functional association throughout development. Morphological integration, a concept developed in vertebrate morphology and evolutionary biology, describes the coordinated variation of functionally and developmentally related traits of organisms. Syndromic craniosynostosis is characterized by distinctive changes in skull morphology and perceptible, though less well studied, changes in brain structure and morphology. Using mouse models for craniosynostosis conditions, our group has precisely defined how unique craniosynostosis causing mutations in fibroblast growth factor receptors affect brain and skull morphology and dysgenesis involving coordinated tissue-specific effects of these mutations. Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and Crouzon syndromes and a mouse model carrying the FGFR2 S252W mutation, one of two mutations responsible for two-thirds of Apert syndrome cases. Using linear distances estimated from three-dimensional coordinates of landmarks acquired from dual modality imaging of skull (high resolution micro-computed tomography and magnetic resonance microscopy) of mice at embryonic day 17.5, we confirm variation in brain and skull morphology in Fgfr2cC342Y/+ mice, Fgfr2+/S252W mice, and their unaffected littermates. Mutation-specific variation in neural and cranial tissue notwithstanding, patterns of integration of brain and skull differed only subtly between mice carrying either the FGFR2c C342Y or the FGFR2 S252W mutation and their unaffected littermates. However, statistically significant and substantial differences in morphological integration of brain and skull were revealed between the two mutant mouse models, each maintained on a different strain. Relative to the effects of

  16. Dynamic morphological changes in the skulls of mice mimicking human Apert syndrome resulting from gain-of-function mutation of FGFR2 (P253R).

    PubMed

    Du, Xiaolan; Weng, Tujun; Sun, Qidi; Su, Nan; Chen, Zhi; Qi, Huabing; Jin, Ming; Yin, Liangjun; He, Qifen; Chen, Lin

    2010-08-01

    Apert syndrome is caused mainly by gain-of-function mutations of fibroblast growth factor receptor 2. We have generated a mouse model (Fgfr2(+/P253R)) mimicking human Apert syndrome resulting from fibroblast growth factor receptor 2 Pro253Arg mutation using the knock-in approach. This mouse model in general has the characteristic skull morphology similar to that in humans with Apert syndrome. To characterize the detailed changes of form in the overall skull and its major anatomic structures, euclidean distance matrix analysis was used to quantitatively compare the form and growth difference between the skulls of mutants and their wild-type controls. There were substantial morphological differences between the skulls of mutants and their controls at 4 and 8 weeks of age (P < 0.01). The mutants showed shortened skull dimensions along the rostrocaudal axis, especially in their face. The width of the frontal bone and the distance between the two orbits were broadened mediolaterally. The neurocrania were significantly increased along the dorsoventral axis and slightly increased along the mediolateral axis, and also had anteriorly displayed opisthion along the rostrocaudal axis. Compared with wild-type, the mutant mandible had an anteriorly displaced coronoid process and mandibular condyle along the rostrocaudal axis. We further found that there was catch-up growth in the nasal bone, maxilla, zygomatic bone and some regions of the mandible of the mutant skulls during the 4-8-week interval. The above-mentioned findings further validate the Fgfr2(+/P253R) mouse strain as a good model for human Apert syndrome. The changes in form characterized in this study will help to elucidate the mechanisms through which the Pro253Arg mutation in fibroblast growth factor receptor 2 affects craniofacial development and causes Apert syndrome.

  17. Beyond the closed suture in Apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth

    PubMed Central

    Martínez-Abadías, Neus; Percival, Christopher; Aldridge, Kristina; Hill, Cheryl A; Ryan, Timothy; Sirivunnabood, Satama; Wang, Yingli; Jabs, Ethylin Wang; Richtsmeier, Joan T

    2010-01-01

    Apert syndrome is a congenital disorder caused mainly by two neighboring mutations on fibroblast growth factor receptor 2 (FGFR2). Premature closure of the coronal suture is commonly considered the identifying and primary defect triggering or preceding the additional cranial malformations of Apert phenotype. Here we use two transgenic mouse models of Apert syndrome, Fgfr2+/S252W and Fgfr2+/P253R, to explore variation in cranial phenotypes in newborn (P0) mice. Results show that the facial skeleton is the most affected region of the cranium. Coronal suture patency shows marked variation that is not strongly correlated with skull dysmorphology. The craniofacial effects of the FGFR2 mutations are similar, but Fgfr2+/S252W mutant mice display significantly more severe dysmorphology localized to the posterior palate. Our results demonstrate that coronal suture closure is neither the primary nor the sole locus of skull dysmorphology in these mouse models for Apert syndrome, but that the face is also primarily affected. PMID:20842696

  18. Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.

    PubMed Central

    Viljoen, D; Ramesar, R

    1992-01-01

    A previously unreported family in which seven members in two generations have Beckwith-Wiedemann syndrome (BWS) is documented. Paternal imprinting of the gene responsible for BWS is involved as the mechanism responsible for the aberrant inheritance pattern in this kindred. A review of published reports showed 27 previously published pedigrees with two or more affected subjects with BWS. Paternal imprinting would explain the non-mendelian inheritance of BWS in all but four kindreds. The latter families are examined in more detail and in only one example is the evidence against imprinting totally unexplained. Images PMID:1583639

  19. Paternal occupational exposures and the risk of Down syndrome.

    PubMed Central

    Olshan, A F; Baird, P A; Teschke, K

    1989-01-01

    An exploratory case-control study of paternal occupation as a risk factor for Down syndrome was conducted. With the use of the British Columbia Health Surveillance Registry, 1,008 cases of live-born Down syndrome were identified for the period 1952-73. Two controls were matched to each case by using the birth files of British Columbia. Paternal occupation was obtained from the birth notice. Elevated maternal age-adjusted relative risks of Down syndrome were found for fathers employed as janitors (odds ratio [OR] = 3.26; 95% confidence interval [C.I.] = 1.02-10.44); mechanics (OR = 3.27; C.I. = 1.57-6.80); farm managers/workers (OR = 2.03; C.I. = 1.25-3.03); material-moving equipment operators (OR = 1.88; C.I. = 0.93-3.82); food processors (OR = 1.79; C.I. = 0.96-3.31); sheet-metal workers, iron workers, and other metalworkers (OR = 1.57; C.I. = 0.92-2.69); and sawmill workers (OR = 1.43; C.I. = 0.90-2.66). This large study provides new leads for further evaluation of the role of paternal exposures in the etiology of Down syndrome. PMID:2523192

  20. Mosaic paternal genome-wide uniparental isodisomy with down syndrome.

    PubMed

    Darcy, Diana; Atwal, Paldeep Singh; Angell, Cathy; Gadi, Inder; Wallerstein, Robert

    2015-10-01

    We report on a 6-month-old girl with two apparent cell lines; one with trisomy 21, and the other with paternal genome-wide uniparental isodisomy (GWUPiD), identified using single nucleotide polymorphism (SNP) based microarray and microsatellite analysis of polymorphic loci. The patient has Beckwith-Wiedemann syndrome (BWS) due to paternal uniparental disomy (UPD) at chromosome location 11p15 (UPD 11p15), which was confirmed through methylation analysis. Hyperinsulinemic hypoglycemia is present, which is associated with paternal UPD 11p15.5; and she likely has medullary nephrocalcinosis, which is associated with paternal UPD 20, although this was not biochemically confirmed. Angelman syndrome (AS) analysis was negative but this testing is not completely informative; she has no specific features of AS. Clinical features of this patient include: dysmorphic features consistent with trisomy 21, tetralogy of Fallot, hemihypertrophy, swirled skin hyperpigmentation, hepatoblastoma, and Wilms tumor. Her karyotype is 47,XX,+21[19]/46,XX[4], and microarray results suggest that the cell line with trisomy 21 is biparentally inherited and represents 40-50% of the genomic material in the tested specimen. The difference in the level of cytogenetically detected mosaicism versus the level of mosaicism observed via microarray analysis is likely caused by differences in the test methodologies. While a handful of cases of mosaic paternal GWUPiD have been reported, this patient is the only reported case that also involves trisomy 21. Other GWUPiD patients have presented with features associated with multiple imprinted regions, as does our patient. © 2015 Wiley Periodicals, Inc.

  1. Fronto-facial advancement and bipartition in Crouzon-Pfeiffer and Apert syndromes: Impact of fronto-facial surgery upon orbital and airway parameters in FGFR2 syndromes.

    PubMed

    Khonsari, Roman H; Way, Benjamin; Nysjö, Johan; Odri, Guillaume A; Olszewski, Raphaël; Evans, Robert D; Dunaway, David J; Nyström, Ingela; Britto, Jonathan A

    2016-10-01

    A major concern in FGFR2 craniofaciosynostosis is oculo-orbital disproportion, such that orbital malformation provides poor accommodation and support for the orbital contents and peri-orbita, leading to insufficient eyelid closure, corneal exposure and eventually to functional visual impairment. Fronto-facial monobloc osteotomy followed by distraction osteogenesis aims to correct midfacial growth deficiencies in Crouzon-Pfeiffer syndrome patients. Fronto-facial bipartition osteotomy followed by distraction is a procedure of choice in Apert syndrome patients. These procedures modify the shape and volume of the orbit and tend to correct oculo-orbital disproportion. Little is known about the detailed 3D shape of the orbital phenotype in CPS and AS, and about how this is modified by fronto-facial surgery. Twenty-eight patients with CMS, 13 patients with AS and 40 control patients were included. CT scans were performed before and after fronto-facial surgery. Late post-operative scans were available for the Crouzon-Pfeiffer syndrome group. Orbital morphology was investigated using conventional three-dimensional cephalometry and shape analysis after mesh-based segmentation of the orbital contents. We characterized the 3D morphology of CPS and AS orbits and showed how orbital shape is modified by surgery. We showed that monobloc-distraction in CPS and bipartition-distraction in AS specifically address the morphological characteristics of the two syndromes.

  2. Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome.

    PubMed

    Torres, Lilian; Hernández, Gualberto; Barrera, Alejandro; Ospina, Sandra; Prada, Rolando

    2015-09-30

    Apert syndrome (AS) is a craniosynostosis condition caused by mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. Clinical features include cutaneous and osseous symmetric syndactily in hands and feet, with variable presentations in bones, brain, skin and other internal organs. Members of two families with an index case of Apert Syndrome were assessed to describe relevant clinical features and molecular analysis (sequencing and amplification) of exons 8, 9 and 10 of FGFR2 gen. Family 1 consists of the mother, the index case and half -brother who has a cleft lip and palate. In this family we found a single FGFR2 mutation, S252W, in the sequence of exon 8. Although mutations were not found in the study of the patient affected with cleft lip and palate, it is known that these diseases share signaling pathways, allowing suspected alterations in shared genes. In the patient of family 2, we found a sequence variant T78.501A located near the splicing site, which could interfere in this process, and consequently with the protein function.

  3. A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.

    PubMed

    Hajihosseini, M K; Wilson, S; De Moerlooze, L; Dickson, C

    2001-03-27

    Intercellular signaling by fibroblast growth factors plays vital roles during embryogenesis. Mice deficient for fibroblast growth factor receptors (FgfRs) show abnormalities in early gastrulation and implantation, disruptions in epithelial-mesenchymal interactions, as well as profound defects in membranous and endochondrial bone formation. Activating FGFR mutations are the underlying cause of several craniosynostoses and dwarfism syndromes in humans. Here we show that a heterozygotic abrogation of FgfR2-exon 9 (IIIc) in mice causes a splicing switch, resulting in a gain-of-function mutation. The consequences are neonatal growth retardation and death, coronal synostosis, ocular proptosis, precocious sternal fusion, and abnormalities in secondary branching in several organs that undergo branching morphogenesis. This phenotype has strong parallels to some Apert's and Pfeiffer's syndrome patients.

  4. Deformed Skull Morphology Is Caused by the Combined Effects of the Maldevelopment of Calvarias, Cranial Base and Brain in FGFR2-P253R Mice Mimicking Human Apert Syndrome

    PubMed Central

    Luo, Fengtao; Xie, Yangli; Xu, Wei; Huang, Junlan; Zhou, Siru; Wang, Zuqiang; Luo, Xiaoqing; Liu, Mi; Chen, Lin; Du, Xiaolan

    2017-01-01

    Apert syndrome (AS) is a common genetic syndrome in humans characterized with craniosynostosis. Apert patients and mouse models showed abnormalities in sutures, cranial base and brain, that may all be involved in the pathogenesis of skull malformation of Apert syndrome. To distinguish the differential roles of these components of head in the pathogenesis of the abnormal skull morphology of AS, we generated mouse strains specifically expressing mutant FGFR2 in chondrocytes, osteoblasts, and progenitor cells of central nervous system (CNS) by crossing Fgfr2+/P253R-Neo mice with Col2a1-Cre, Osteocalcin-Cre (OC-Cre), and Nestin-Cre mice, respectively. We then quantitatively analyzed the skull and brain morphology of these mutant mice by micro-CT and micro-MRI using Euclidean distance matrix analysis (EDMA). Skulls of Col2a1-Fgfr2+/P253R mice showed Apert syndrome-like dysmorphology, such as shortened skull dimensions along the rostrocaudal axis, shortened nasal bone, and evidently advanced ossification of cranial base synchondroses. The OC-Fgfr2+/P253R mice showed malformation in face at 8-week stage. Nestin-Fgfr2+/P253R mice exhibited increased dorsoventral height and rostrocaudal length on the caudal skull and brain at 8 weeks. Our study indicates that the abnormal skull morphology of AS is caused by the combined effects of the maldevelopment in calvarias, cranial base, and brain tissue. These findings further deepen our knowledge about the pathogenesis of the abnormal skull morphology of AS, and provide new clues for the further analyses of skull phenotypes and clinical management of AS. PMID:28123344

  5. Eugène Apert and his contributions to plastic surgery.

    PubMed

    Lee, Dennis S; Chung, Kevin C

    2010-03-01

    French pediatrician Eugène Apert is best known for his 1906 description of the eponymous Apert Syndrome: the widely recognized congenital condition that is known as acrocephalosyndactyly, which is characterized by distinct craniofacial deformities and bilateral syndactyly of the hands and feet. Subsequent efforts to study and treat this condition have led to contributions from numerous medical and surgical specialties under the guidance of plastic surgery. Apert's influence on medicine, however, extends far beyond what can be appreciated by the impact of his eponymous syndrome. Considered one of France's eminent pediatricians, Apert additionally made important contributions to the study of adult diseases. He was also a founding member of the French Eugenics Society, serving as its secretary general and president in a tenure that lasted for most of his career. Apert's medical contributions within the context of this scientific ideology make him an important and potentially controversial figure in medicine.

  6. The infant Apert skull.

    PubMed

    Kreiborg, S; Cohen, M M

    1991-07-01

    During early infancy, the Apert skull is literally wide open. It is characterized by a gaping midline calvarial defect that extends almost from the root of the nose through the metopic suture area, anterior fontanelle, and sagittal suture area to a widely patent posterior fontanelle. Only the coronal suture area is prematurely fused. During the first 2 to 4 years of life, bony islands that have formed in the midline enlarge and coalesce, obliterating the midline calvarial defect without any evidence of suture formation.

  7. Paternalism and egregious harm: Prader-Willi Syndrome and the importance of care.

    PubMed

    Groarke, Louis

    2000-07-01

    Paternalism clashes with the usual liberal model. In this paper I argue that attempts to defend even a limited form of paternalism by liberal authors such as Joel Feinberg, Gerald Dworkin and H.L.A. Hart fail. I propose instead a bivalent model for paternalism that appeals to two separate principles: the no-harm principle and the care-principle. The notion of care discussed by contemporary feminist authors is a fundamental moral archetype that permeates history and culture. I go on to consider the case of patients with Prader-Willi Syndrome and argue that paternalism is not only permissible but imperative in cases in egregious harm. This view is enshrined in common law jurisprudence which dismisses consent as a justification in serious crime.

  8. The primary site of the acrocephalic feature in Apert Syndrome is a dwarf cranial base with accelerated chondrocytic differentiation due to aberrant activation of the FGFR2 signaling.

    PubMed

    Nagata, Masaki; Nuckolls, Glen H; Wang, Xibin; Shum, Lillian; Seki, Yukie; Kawase, Tomoyuki; Takahashi, Katsu; Nonaka, Kazuaki; Takahashi, Ichiro; Noman, Arhab A; Suzuki, Kenji; Slavkin, Harold C

    2011-04-01

    Activation of osteoblastic bone anabolism in the calvarial sutures is considered to be the essential pathologic condition underlying mutant FGFR2-related craniofacial dysostosis. However, early clinical investigations indicated that abnormal cartilage development in the cranial base was rather a primary site of abnormal feature in Apert Syndrome (AS). To examine the significance of cartilaginous growth of the cranial base in AS, we generated a transgenic mouse bearing AS-type mutant Fgfr2IIIc under the control of the Col2a1 promoter-enhancer (Fgfr2IIIc(P253R) mouse). Despite the lacking expression of Fgfr2IIIc(P253R) in osteoblasts, exclusive disruption of chondrocytic differentiation and growth reproduced AS-like acrocephaly accompanied by short anterior cranial base with fusion of the cranial base synchondroses, maxillary hypoplasia and synostosis of the calvarial sutures with no significant abnormalities in the trunk and extremities. Gene expression analyses demonstrated upregulation of p21, Ihh and Mmp-13 accompanied by modest increase in expression of Sox9 and Runx2, indicating acceleration of chondrocytic maturation and hypertrophy in the cranial base of the Fgfr2IIIc(P253R) mice. Furthermore, an acquired affinity and specificity of mutant FGFR2IIIc(P253R) receptor with FGF2 and FGF10 is suggested as a mechanism of activation of FGFR2 signaling selectively in the cranial base. In this report, we strongly suggest that the acrocephalic feature of AS is not alone a result of the coronal suture synostosis, but is a result of the primary disturbance in growth of the cranial base with precocious endochondral ossification. Copyright © 2010 Elsevier Inc. All rights reserved.

  9. Maladaptive Behavior Differences in Prader-Willi Syndrome Due to Paternal Deletion versus Maternal Uniparental Disomy.

    ERIC Educational Resources Information Center

    Dykens, Elisabeth M.; King, Bryan H.; Cassidy, Suzanne B.

    1999-01-01

    This study compared maladaptive behavior in 23 people with Prader-Willi syndrome due to paternal deletion and in 23 age- and gender-matched subjects with maternal uniparental disomy. Controlling for IQs, the deletion cases showed significantly higher maladaptive ratings, more symptom-related distress, and more behavior problems. Findings suggest a…

  10. Paternal Contribution to Down's Syndrome Dispels Maternal Myths.

    ERIC Educational Resources Information Center

    Abroms, Kippy I.; Bennett, Joan W.

    The paper refutes the long held belief that Down's syndrome is the result of maternal age and maternal etiology. The author cites new evidence which demonstrates that Trisomy-21 (the presence in the chromosome of an extra arcocentric chromosome resulting from non-disjunction), the major cause (95% of the cases) of Down's syndrome, can originate in…

  11. Paternal Contribution to Down's Syndrome Dispels Maternal Myths.

    ERIC Educational Resources Information Center

    Abroms, Kippy I.; Bennett, Joan W.

    The paper refutes the long held belief that Down's syndrome is the result of maternal age and maternal etiology. The author cites new evidence which demonstrates that Trisomy-21 (the presence in the chromosome of an extra arcocentric chromosome resulting from non-disjunction), the major cause (95% of the cases) of Down's syndrome, can originate in…

  12. Maternal and paternal pragmatic speech directed to young children with Down syndrome and typical development

    PubMed Central

    de Falco, Simona; Venuti, Paola; Esposito, Gianluca; Bornstein, Marc H.

    2011-01-01

    The aim of this study was to compare functional features of maternal and paternal speech directed to children with Down syndrome and developmental age-matched typically developing children. Altogether 88 parents (44 mothers and 44 fathers) and their 44 young children (22 children with Down syndrome and 22 typically developing children) participated. Parents’ speech directed to children was obtained through observation of naturalistic parent–child dyadic interactions. Verbatim transcripts of maternal and paternal language were categorized in terms of the primary function of each speech unit. Parents (both mothers and fathers) of children with Down syndrome used more affect-salient speech compared to parents of typically developing children. Although parents used the same amounts of information-salient speech, parents of children with Down syndrome used more direct statements and asked fewer questions than did parents of typically developing children. Concerning parent gender, in both groups mothers used more language than fathers and specifically more descriptions. These findings held controlling for child age and MLU and family SES. This study highlights strengths and weaknesses of parental communication to children with Down syndrome and helps to identify areas of potential improvement through intervention. PMID:21215458

  13. Maternal and paternal pragmatic speech directed to young children with Down syndrome and typical development.

    PubMed

    de Falco, Simona; Venuti, Paola; Esposito, Gianluca; Bornstein, Marc H

    2011-02-01

    The aim of this study was to compare functional features of maternal and paternal speech directed to children with Down syndrome and developmental age-matched typically developing children. Altogether 88 parents (44 mothers and 44 fathers) and their 44 young children (22 children with Down syndrome and 22 typically developing children) participated. Parents' speech directed to children was obtained through observation of naturalistic parent-child dyadic interactions. Verbatim transcripts of maternal and paternal language were categorized in terms of the primary function of each speech unit. Parents (both mothers and fathers) of children with Down syndrome used more affect-salient speech compared to parents of typically developing children. Although parents used the same amounts of information-salient speech, parents of children with Down syndrome used more direct statements and asked fewer questions than did parents of typically developing children. Concerning parent gender, in both groups mothers used more language than fathers and specifically more descriptions. These findings held controlling for child age and MLU and family SES. This study highlights strengths and weaknesses of parental communication to children with Down syndrome and helps to identify areas of potential improvement through intervention. Copyright © 2010 Elsevier Inc. All rights reserved.

  14. Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?

    SciTech Connect

    Bottani, A.; Robinson, W.P.; DeLoizer-Blanchet, C.D.; Engel, E.; Morris, M.A.; Schmitt, Thun-Hohenstein, L.; Schinzel, A.

    1994-05-15

    The Angelman syndrome (AS) is a neurological disorder characterized by severe mental retardation, absent speech, seizures, gait disturbances, and a typical age-dependent facial phenotype. Most cases are due to an interstitial deletion on the maternally inherited chromosome 15, in the critical region q11-q13. Rare cases also result from paternal uniparental disomy of chromosome 15. In a group of 14 patients with sporadic AS diagnosed in Switzerland, we found 2 unrelated females with paternal isodisomy for the entire chromosome 15. Their phenotypes were milder than usually seen in this syndrome: one girl did not show the typical AS facial changes; both patients had late-onset mild seizures; as they grow older, they had largely undisturbed gross motor functions, in particular no severe ataxia. Both girls were born to older fathers (45 and 43 years old, respectively). The apparent association of a relatively milder phenotype in AS with paternal uniparental disomy will have to be confirmed by detailed clinical descriptions of further patients. 25 refs., 2 figs., 1 tab.

  15. Genetics Home Reference: Apert syndrome

    MedlinePlus

    ... on PubMed Chen L, Deng CX. Roles of FGF signaling in skeletal development and human genetic diseases. ... Kan SH, van den Ouweland AM, Hamel BC. FGFs, their receptors, and human limb malformations: clinical and ...

  16. Guide to Understanding Apert Syndrome

    MedlinePlus

    ... have two copies of this gene (one from mother, one from father), which is composed of a ... child, the skull is made up of several “plates” which remain loosely connected to one another, gradually ...

  17. Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.

    PubMed

    Zerem, Ayelet; Lev, Dorit; Blumkin, Lubov; Goldberg-Stern, Hadassa; Michaeli-Yossef, Yael; Halevy, Ayelet; Kivity, Sara; Nakamura, Kazuyuki; Matsumoto, Naomichi; Leshinsky-Silver, Esther; Saitsu, Hirotomo; Lerman-Sagie, Tally

    2014-09-01

    Ohtahara syndrome is a devastating early infantile epileptic encephalopathy caused by mutations in different genes. We describe a patient with Ohtahara syndrome who presented on the first day of life with refractory tonic seizures and a suppression-burst pattern on EEG. The patient developed severe microcephaly, and never achieved any developmental milestones. He died at the age of 5 years. A de novo missense mutation (c. 4007C>A, p.S1336Y) in SCN2A was found. Interestingly, the father has another son with Ohtahara syndrome from a different mother. The half brother carries the same SCN2A mutation, strongly suggesting paternal gonadal mosaicism of the mutation. The broad clinical spectrum of SCN2A mutations now includes Ohtahara syndrome. This is the first report of familial Ohtahara syndrome due to a germline mosaic SCN2A mutation. Somatic mosaicism, including germline, has been described in several epileptic encephalopathies such as Dravet syndrome, KCNQ2 neonatal epileptic encephalopathy, SCN8A epileptic encephalopathy and STXBP1 related Ohtahara syndrome. Mosaicism should be considered as one of the important inheritance patterns when counseling parents with a child with these devastating diseases.

  18. Effects of FGFR Signaling on Cell Proliferation and Differentiation of Apert Dental Cells.

    PubMed

    Lu, Changming; Huguley, Samuel; Cui, Chun; Cabaniss, Lauren B; Waite, Peter D; Sarver, David M; Mamaeva, Olga A; MacDougall, Mary

    2016-01-01

    The Apert syndrome is a rare congenital disorder most often arising from S252W or P253R mutations in fibroblast growth factor receptor (FGFR2). Numerous studies have focused on the regulatory role of Apert FGFR2 signaling in bone formation, whereas its functional role in tooth development is largely unknown. To investigate the role of FGFR signaling in cell proliferation and odontogenic differentiation of human dental cells in vitro, we isolated dental pulp and enamel organ epithelia (EOE) tissues from an Apert patient carrying the S252W FGFR2 mutation. Apert primary pulp and EOE cells were established and shown to exhibit normal morphology and express alkaline phosphatase under differentiation conditions. Similar to control cells, Apert dental pulp and EOE cells expressed all FGFRs, with highest levels of FGFR1 followed by FGFR2 and low levels of FGFR3 and FGFR4. However, Apert cells had increased cell growth compared with control cells. Distinct from previous findings in osteoblast cells, gain-of-function S252W FGFR2 mutation did not upregulate the expression of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor (PDGFRα), but elevated extracellular signal-regulated kinase (ERK) signaling in cells after EGF stimulation. Unexpectedly, there was little effect of the S252W mutation on odontogenic gene expression in dental pulp and EOE cells. However, after inhibition of total FGFR signaling or ERK signaling, the expression of odontogenic genes was upregulated in both dental cell types, indicating the negative effect of whole FGFR signaling on odontogenic differentiation. This study provides novel insights on FGFR signaling and a common Apert FGFR2 mutation in the regulation of odontogenic differentiation of dental mesenchymal and epithelial cells. © 2015 S. Karger AG, Basel.

  19. Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases

    PubMed Central

    2013-01-01

    Background Angelman syndrome is a rare neurogenetic disorder that results in intellectual and developmental disturbances, seizures, jerky movements and frequent smiling. Angelman syndrome is caused by two genetic disturbances: either genes on the maternally inherited chromosome 15 are deleted or inactivated or two paternal copies of the corresponding genes are inherited (paternal uniparental disomy). A 16-month-old child was referred with minor facial anomalies, neurodevelopmental delay and speech impairment. The clinical symptoms suggested angelman syndrome. The aim of our study was to elucidate the genetic background of this case. Results This study reports the earliest diagnosed angelman syndrome in a 16-month-old Hungarian child. Cytogenetic results suggested a de novo Robertsonian-like translocation involving both q arms of chromosome 15: 45,XY,der(15;15)(q10;q10). Molecular genetic studies with polymorphic short tandem repeat markers of the fibrillin-1 gene, located in the 15q21.1, revealed that both arms of the translocated chromosome were derived from a single paternal chromosome 15 (isodisomy) and led to the diagnosis of angelman syndrome caused by paternal uniparental disomy. Conclusions AS resulting from paternal uniparental disomy caused by de novo balanced translocation t(15q;15q) of a single paternal chromosome has been reported by other groups. This paper reviews 19 previously published comparable cases of the literature. Our paper contributes to the deeper understanding of the phenotype-genotype correlation in angelman syndrome for non-deletion subclasses and suggests that patients with uniparental disomy have milder symptoms and higher BMI than the ones with other underlying genetic abnormalities. PMID:24011290

  20. Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.

    PubMed

    Horváth, Emese; Horváth, Zsuzsanna; Isaszegi, Dóra; Gergev, Gyurgyinka; Nagy, Nikoletta; Szabó, János; Sztriha, László; Széll, Márta; Endreffy, Emőke

    2013-09-08

    Angelman syndrome is a rare neurogenetic disorder that results in intellectual and developmental disturbances, seizures, jerky movements and frequent smiling. Angelman syndrome is caused by two genetic disturbances: either genes on the maternally inherited chromosome 15 are deleted or inactivated or two paternal copies of the corresponding genes are inherited (paternal uniparental disomy). A 16-month-old child was referred with minor facial anomalies, neurodevelopmental delay and speech impairment. The clinical symptoms suggested angelman syndrome. The aim of our study was to elucidate the genetic background of this case. This study reports the earliest diagnosed angelman syndrome in a 16-month-old Hungarian child. Cytogenetic results suggested a de novo Robertsonian-like translocation involving both q arms of chromosome 15: 45,XY,der(15;15)(q10;q10). Molecular genetic studies with polymorphic short tandem repeat markers of the fibrillin-1 gene, located in the 15q21.1, revealed that both arms of the translocated chromosome were derived from a single paternal chromosome 15 (isodisomy) and led to the diagnosis of angelman syndrome caused by paternal uniparental disomy. AS resulting from paternal uniparental disomy caused by de novo balanced translocation t(15q;15q) of a single paternal chromosome has been reported by other groups. This paper reviews 19 previously published comparable cases of the literature. Our paper contributes to the deeper understanding of the phenotype-genotype correlation in angelman syndrome for non-deletion subclasses and suggests that patients with uniparental disomy have milder symptoms and higher BMI than the ones with other underlying genetic abnormalities.

  1. Correcting the typical Apert face: combining bipartition with monobloc distraction.

    PubMed

    Greig, Aina V H; Britto, Jonathan A; Abela, Christopher; Witherow, Helen; Richards, Robin; Evans, Robert D; Jeelani, N U Owase; Hayward, Richard D; Dunaway, David J

    2013-02-01

    Bipartition distraction is a novel procedure combining frontofacial bipartition and monobloc distraction. Apert syndrome and other syndromic craniofacial dysostoses are often characterized by hypertelorism, with a negative canthal axis and counterrotated orbits. Central midface hypoplasia can result in a biconcave face in both midsagittal and axial planes. Bipartition distraction can correct these facial abnormalities. Twenty patients (19 Apert syndrome patients and one Pfeiffer syndrome patient, aged 1.6 to 21 years) underwent bipartition distraction. Severity of appearance was graded preoperatively and postoperatively as mild, moderate, or severe. Functional problems were documented by a multidisciplinary team. Central and lateral midface skeletal advancement were measured. Follow-up ranged from 15 months to 7 years. Bipartition distraction consistently produced more central than lateral facial advancement. Mean central advancement was 13.2 ± 5.9 mm at sella-nasion and 11.7 ± 5.4 mm at sella-A point. Lateral advancement was 4.7 ± 2.8 mm. Unbending the face improved aesthetic appearance. Airway function, eye exposure, and elevated intracranial pressure were improved. Complications included six temporary cerebrospinal fluid leaks (four needing a lumbar drain), five patients with postoperative seizures, five patients requiring Rigid External Distraction frame repositioning, one palatal fistula, one velopharyngeal incompetence, five pin-site infections, one abscess under frontal bone, three cases of sepsis, nine patients with worsened strabismus, two patients with enophthalmos, one patient with partial visual field loss, and three patients who required reintubation because of aspiration. : Bipartition distraction is an effective procedure with which to differentially advance the central face in Apert syndrome. It improves both function and aesthetics. : Therapeutic, IV.

  2. Identical monochorionic twins with down syndrome and paternal origin of the extra chromosome 21.

    PubMed

    Urumova, A; Tasic, Velibor; Bojadjieva, E; Pomponi, M G; Neri, G; Gucev, Z

    2012-01-01

    Trisomy 21, the cause of Down syndrome (DS), is the most frequent trisomy in humans. The risk for DS increases with maternal age: mothers under 25 years of age are known to have an average risk of a DS pregnancy of 1: 1600, rising to 1: 350 at age 35 and to 1: 40 at 43, respectively. Twins with DS are rare. We report on monozygotic (MZ), monochorionic twin sisters with DS, whose parents are young (24 and 26 years old, respectively) and healthy. Family history is non contributory; pregnancy and delivery were uneventful. Both girls presented at birth with clinical manifestations of Down syndrome, that was confirmed cytogenetically (47XX,+21). Microsatellites analysis indicated that the twins are identical and that the extra chromosome 21 was of paternal origin. For practical purposes, the causative non disjunction should be considered a single sporadic event, with an empirical recurrence risk estimated at about 1%.

  3. Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing.

    PubMed

    Stanurova, Jana; Neureiter, Anika; Hiber, Michaela; de Oliveira Kessler, Hannah; Stolp, Kristin; Goetzke, Roman; Klein, Diana; Bankfalvi, Agnes; Klump, Hannes; Steenpass, Laura

    2016-08-03

    Genomic imprinting is an epigenetic phenomenon resulting in parent-of-origin-specific gene expression that is regulated by a differentially methylated region. Gene mutations or failures in the imprinting process lead to the development of imprinting disorders, such as Angelman syndrome. The symptoms of Angelman syndrome are caused by the absence of functional UBE3A protein in neurons of the brain. To create a human neuronal model for Angelman syndrome, we reprogrammed dermal fibroblasts of a patient carrying a defined three-base pair deletion in UBE3A into induced pluripotent stem cells (iPSCs). In these iPSCs, both parental alleles are present, distinguishable by the mutation, and express UBE3A. Detailed characterization of these iPSCs demonstrated their pluripotency and exceptional stability of the differentially methylated region regulating imprinted UBE3A expression. We observed strong induction of SNHG14 and silencing of paternal UBE3A expression only late during neuronal differentiation, in vitro. This new Angelman syndrome iPSC line allows to study imprinted gene regulation on both parental alleles and to dissect molecular pathways affected by the absence of UBE3A protein.

  4. Angelman syndrome-derived neurons display late onset of paternal UBE3A silencing

    PubMed Central

    Stanurova, Jana; Neureiter, Anika; Hiber, Michaela; de Oliveira Kessler, Hannah; Stolp, Kristin; Goetzke, Roman; Klein, Diana; Bankfalvi, Agnes; Klump, Hannes; Steenpass, Laura

    2016-01-01

    Genomic imprinting is an epigenetic phenomenon resulting in parent-of-origin-specific gene expression that is regulated by a differentially methylated region. Gene mutations or failures in the imprinting process lead to the development of imprinting disorders, such as Angelman syndrome. The symptoms of Angelman syndrome are caused by the absence of functional UBE3A protein in neurons of the brain. To create a human neuronal model for Angelman syndrome, we reprogrammed dermal fibroblasts of a patient carrying a defined three-base pair deletion in UBE3A into induced pluripotent stem cells (iPSCs). In these iPSCs, both parental alleles are present, distinguishable by the mutation, and express UBE3A. Detailed characterization of these iPSCs demonstrated their pluripotency and exceptional stability of the differentially methylated region regulating imprinted UBE3A expression. We observed strong induction of SNHG14 and silencing of paternal UBE3A expression only late during neuronal differentiation, in vitro. This new Angelman syndrome iPSC line allows to study imprinted gene regulation on both parental alleles and to dissect molecular pathways affected by the absence of UBE3A protein. PMID:27484051

  5. Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.

    PubMed

    Petit, François M; Gajdos, Vincent; Parisot, Frédéric; Capel, Liliane; Aboura, Azzedine; Lachaux, Alain; Tachdjian, Gérard; Poüs, Christian; Labrune, Philippe

    2005-03-01

    Crigler-Najjar syndrome type I (CN-I) is a rare and severe autosomal recessive metabolic disease due to a total deficiency of bilirubin uridine diphosphate glucuronosyltransferase located on chromosome 2. We report on a child with CN-I due to a phenylalanine residue deletion inherited only from the father carrying this deletion at the heterozygous state. Cytogenetic analyses showed no deletion of the chromosomal 2q37 region. Microsatellite analysis of the child and his parents was consistent with paternal isodisomy for chromosome 2 in the child. This report demonstrates that uniparental disomy may be at the origin of very rare diseases transmitted as autosomal recessive traits and emphasizes the need for parental DNA analysis in such cases.

  6. Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

    PubMed

    Goriely, Anne; Lord, Helen; Lim, Jasmine; Johnson, David; Lester, Tracy; Firth, Helen V; Wilkie, Andrew O M

    2010-08-01

    Crouzon syndrome is a dominantly inherited disorder characterized by craniosynostosis and facial dysostosis, caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene; it belongs to a class of disorders that mostly arise as de novo mutations and exhibit a near-exclusive paternal origin of mutation and elevated paternal age ("paternal age effect"). However, even if this is the major mode of origin of mutations in paternal age-effect disorders, germline mosaicism may also occur. Here we describe the first molecularly documented evidence of germline and somatic mosaicism for FGFR2 mutation, identified in the mother of a child with Crouzon syndrome caused by a heterozygous c.1007A>G (p.Asp336Gly) substitution. Levels of maternal somatic mosaicism for this mutation, estimated by pyrosequencing, ranged from 3.3% in hair roots to 14.1% in blood. Our observation underlines the importance of parental molecular testing for accurate genetic counseling of the risk of recurrence for Crouzon, and other paternal age-effect syndromes.

  7. The Paternal Gene of the DDK Syndrome Maps to the Schlafen Gene Cluster on Mouse Chromosome 11

    PubMed Central

    Bell, Timothy A.; de la Casa-Esperón, Elena; Doherty, Heather E.; Ideraabdullah, Folami; Kim, Kuikwon; Wang, Yunfei; Lange, Leslie A.; Wilhemsen, Kirk; Lange, Ethan M.; Sapienza, Carmen; de Villena, Fernando Pardo-Manuel

    2006-01-01

    The DDK syndrome is an early embryonic lethal phenotype observed in crosses between females of the DDK inbred mouse strain and many non-DDK males. Lethality results from an incompatibility between a maternal DDK factor and a non-DDK paternal gene, both of which have been mapped to the Ovum mutant (Om) locus on mouse chromosome 11. Here we define a 465-kb candidate interval for the paternal gene by recombinant progeny testing. To further refine the candidate interval we determined whether males from 17 classical and wild-derived inbred strains are interfertile with DDK females. We conclude that the incompatible paternal allele arose in the Mus musculus domesticus lineage and that incompatible strains should share a common haplotype spanning the paternal gene. We tested for association between paternal allele compatibility/incompatibility and 167 genetic variants located in the candidate interval. Two diallelic SNPs, located in the Schlafen gene cluster, are completely predictive of the polar-lethal phenotype. These SNPs also predict the compatible or incompatible status of males of five additional strains. PMID:16172501

  8. The paternal gene of the DDK syndrome maps to the Schlafen gene cluster on mouse chromosome 11.

    PubMed

    Bell, Timothy A; de la Casa-Esperón, Elena; Doherty, Heather E; Ideraabdullah, Folami; Kim, Kuikwon; Wang, Yunfei; Lange, Leslie A; Wilhemsen, Kirk; Lange, Ethan M; Sapienza, Carmen; de Villena, Fernando Pardo-Manuel

    2006-01-01

    The DDK syndrome is an early embryonic lethal phenotype observed in crosses between females of the DDK inbred mouse strain and many non-DDK males. Lethality results from an incompatibility between a maternal DDK factor and a non-DDK paternal gene, both of which have been mapped to the Ovum mutant (Om) locus on mouse chromosome 11. Here we define a 465-kb candidate interval for the paternal gene by recombinant progeny testing. To further refine the candidate interval we determined whether males from 17 classical and wild-derived inbred strains are interfertile with DDK females. We conclude that the incompatible paternal allele arose in the Mus musculus domesticus lineage and that incompatible strains should share a common haplotype spanning the paternal gene. We tested for association between paternal allele compatibility/incompatibility and 167 genetic variants located in the candidate interval. Two diallelic SNPs, located in the Schlafen gene cluster, are completely predictive of the polar-lethal phenotype. These SNPs also predict the compatible or incompatible status of males of five additional strains.

  9. Characteristics of the infant Apert skull and its subsequent development.

    PubMed

    Kreiborg, S; Cohen, M M

    1990-01-01

    The purpose of the paper is to describe and analyze the infant Apert skull with emphasis on the calvaria and its early postnatal development. Skull radiographs of 16 Apert syndrome patients were examined (12 American, 4 Danish; 8 males, 8 females). The criterion for inclusion in the study was that the first skull film had to be obtained before 1 year of age. Study methods employed included plain skull radiographs, roentgencephalometric films in several projections, CT-scans, and 3-D reconstructions. Data from 2 dry skulls and 2 early cases from the literature were also evaluated The following findings were common to all cases during early infancy (less than 3 months): The coronal suture area was prematurely closed and was represented by a bone condensation line beginning at the cranial base, extending upwards, and having a characteristic posterior convexity. Anterior and posterior fontanelles were widely patent. The midline of the calvaria had a gaping defect which extended from the glabellar area to the posterior fontanelle via the metopic suture area, anterior fontanelle, and sagittal suture area. Bony islands of varying sizes were observed in the midline defect. The calvaria was hypomineralized. During the first 2-4 years of life, the midline defect was obliterated by coalescence of the enlarging bony islands without evidence of any proper formation of sutures. The calvaria became thicker with time and several cases developed increased digital markings and enlargement of the sella turcica. During infancy, the Apert skull with its gaping midline defect appears to permit adequate accommodation of the growing brain, albeit distorted in shape. Normal metopic, sagittal, and coronal sutures with interdigitations were not observed in a single instance; in contrast, the lambdoidal sutures appeared normal in all cases. The invariable findings of an extremely short squama and orbital part of the frontal bone together with the posterior convexity of the coronal bone

  10. Disomy 21 in spermatozoa and the paternal origin of trisomy 21 Down syndrome.

    PubMed

    Iwarsson, Erik; Kvist, Ulrik; Hultén, Maj A

    2015-01-01

    Trisomy 21 Down syndrome is the most common genetic cause for congenital malformations and intellectual disability. It is well known that in the outstanding majority of cases the extra chromosome 21 originates from the mother but only in less than 10 % from the father. The mechanism underlying this striking difference in parental origin of Trisomy 21 Down syndrome is still unknown. However, it seems likely that the main reason is a much higher stringency in the elimination of any trisomy 21 cells during fetal testicular than ovarian development. We have here focussed attention on the paternal gametic output, i.e. the incidence of disomy 21 in spermatozoa. We have used fluorescence in situ hybridisation (FISH) to determine the copy number of chromosome 21 in spermatozoa from 11 men with normal spermiograms. Due to the well-known risk of false positive and false negative signals using a single FISH probe, we have applied two chromosome 21q probes, and we have added a chromosome 18-specific probe to allow differentiation between disomy 21 and diploidy. Analysing a total number of 2000 spermatozoa per case, we documented an average incidence of disomy 21 at 0.13 %, with a range of 0.00-0.25 % and a SD of 0.08. There was no indication of diploidy in this cohort of 22,000 sperm. Numerous previous studies on the incidence of disomy 21 in sperm have been published, using FISH. As far as we are aware, none of these have applied more than a single chromosome 21-specific probe. Accepting our mean of 0.13 % of disomy 21, and providing there is no selective fertilisation capability of disomy 21 sperm in relation to the normal, we conclude that around 1 in 800 conceptions is expected to be trisomic for chromosome 21 of paternal origin. Bearing in mind that the maternal origin likely is at least 10 times more common, we tentatively propose that around 1 in 80 oocytes in the maternal ovarian reserve may be disomy 21. One reason for this discrepancy may be a more stringent

  11. Two cases of deletion 5p syndrome: one with paternal involvement and another with atypical presentation.

    PubMed

    Azman, B Z; Akhir, S M; Zilfalil, B A; Ankathil, R

    2008-04-01

    We report two cases of deletion 5p or cri du chat syndrome (CdCS) with different presentations and risks of transmission: one case with paternal chromosome 5 involvement and another, a de novo case with atypical clinical presentation. Cytogenetic analysis was performed on the two cases and their parents. GTG-banded karyotype analysis of Cases 1 and 2 revealed abnormal 46,XY,del(5)(p13-15) male karyotypes. For Case 1, the mother showed normal female karyotype while the father showed an abnormal karyotype involving a balanced translocation 46,XY,t(5;10)(p13;p15). For Case 2, however, both parents showed a normal karyotype pattern. In Case 1, the clinical features, particularly the distinct facial phenotype in combination with a characteristic cat-like cry and hypotonia, aided in the diagnosis at birth and the karyotype analysis was resolutive. The boy in Case 2 presented with atypical clinical features. Even though this patient had multiple syndromic features, the typical high pitched cat-like cry was not prominent. Instead, the patient manifested persistent stridor (from day three of life), which might have prevented the clinician from suspecting CdCS at birth. However, when this patient was presented at seven months of age for cytogenetic analysis, a confirmatory diagnosis of CdCS was established. For children with congenital abnormalities, an early clinical diagnosis confirmed through cytogenetic and molecular investigations, is important for providing personalised diagnostic and prognostic evaluation, and also for genetic counselling on the reproductive risk, particularly for patients with parental chromosome translocation involvement.

  12. De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly.

    PubMed

    Yamoto, Kaori; Saitsu, Hirotomo; Nakagawa, Norio; Nakajima, Hisakazu; Hasegawa, Tatsuji; Fujisawa, Yasuko; Kagami, Masayo; Fukami, Maki; Ogata, Tsutomu

    2017-08-01

    Although paternally expressed IGF2 is known to play a critical role in placental and body growth, only a single mutation has been found in IGF2. We identified, through whole-exome sequencing, a de novo IGF2 indel mutation leading to frameshift (NM_000612.5:c.110_117delinsAGGTAA, p.(Leu37Glnfs*31)) in a patient with Silver-Russell syndrome, ectrodactyly, undermasculinized genitalia, developmental delay, and placental hypoplasia. Furthermore, we demonstrated that the mutation resided on the paternal allele by sequencing the long PCR product harboring the mutation- and methylation-sensitive SmaI and SalI sites before and after SmaI/SalI digestion. The results, together with the previous findings in four cases from a single family with a paternally inherited IGF2 nonsense mutation and those in patients with variable H19 differentially methylated region epimutations leading to compromised IGF2 expression, suggest that the whole phenotype of this patient is explainable by the IGF2 mutation, and that phenotypic severity is primarily determined by the IGF2 expression level in target tissues. © 2017 Wiley Periodicals, Inc.

  13. Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann Syndrome

    SciTech Connect

    Bischoff, F.Z.; McCaskill, C.; Subramanian, S.

    1994-09-01

    Beckwith-Wiedemann Syndrome (BWS) is characterized by numerous growth abnormalities including exomphalos, macroglossia, gigantism, and hemihypertrophy or hemihyperplasia. The {open_quotes}BWS gene{close_quotes} appears to be maternally repressed and is suspected to function as a growth factor or regulator of somatic growth, since activation of this gene through a variety of mechanisms appears to result in somatic overgrowth and tumor development. Mosaic paternal isodisomy of 11p has been observed previously by others in patients with BWS by Southern blot analysis of genomic DNA. The interpretation of these results was primarily based on the intensities of the hybridization signals for the different alleles. In our study, we demonstrate somatic mosaicism directly through PCR and single cell analysis. Peripheral blood was obtained from a patient with BWS and initial genomic DNA analysis by PCR was suggestive of somatic mosaicism for paternal isodisomy of 11p. Through micromanipulation, single cells were isolated and subjected to primer extention preamplification. Locus-specific microsatellite marker analyses by PCR were performed to determine the chromosome 11 origins in the preamplified individual cells. Two populations of cells were detected, a population of cells with normal biparental inheritance and a population of cells with paternal isodisomy of 11p and biparental disomy of 11q. Using the powerful approach of single cell analysis, the detected somatic mosaicism provides evidence for a mitotic recombinational event that has resulted in loss of the maternal 11p region and gain of a second copy of paternal 11p in some cells. The direct demonstration of mosaicism may explain the variable phenotypes and hemihypertrophy often observed in BWS.

  14. Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.

    PubMed

    Robbins, Katherine M; Stabley, Deborah L; Holbrook, Jennifer; Sahraoui, Rebecca; Sadreameli, Alexa; Conard, Katrina; Baker, Laura; Gripp, Karen W; Sol-Church, Katia

    2016-12-01

    Costello syndrome (CS) arises from a typically paternally derived germline mutation in the proto-oncogene HRAS, and is considered a rasopathy. CS results in failure-to-thrive, intellectual disabilities, short stature, coarse facial features, skeletal abnormalities, congenital heart disease, and a predisposition for cancer, most commonly embryonal rhabdomyosarcoma (ERMS). The goal of this study was to characterize CS ERMS at the molecular level and to determine how divergent it is from sporadic ERMS. We characterized eleven ERMS tumors from eight unrelated CS patients, carrying paternally derived HRAS c.34G>A (p.Gly12Ser; 6) or c.35G>C (p.Gly12Ala; 2) mutations. Loss of heterozygosity (LOH) was evaluated in all CS ERMS by microarray and/or short tandem repeat (STR) markers spanning the entire chromosome 11. Eight CS ERMS tumors displayed complete paternal uniparental disomy of chromosome 11 (pUPD11), whereas two displayed UPD only at 11p and a second primary ERMS tumor showed UPD limited to 11p15.5, the classical hallmark for ERMS. Three sporadic ERMS cell lines (RD, Rh36, Rh18) and eight formalin fixed paraffin embedded (FFPE) ERMS tumors were also analyzed for RAS mutations and LOH status. We found a higher than anticipated frequency of RAS mutations (HRAS or NRAS; 50%) in sporadic ERMS cell lines/tumors. Unexpectedly, complete uniparental disomy (UPD11) was observed in five specimens, while the other six showed LOH extending across the p and q arms of chromosome 11. In this study, we are able to clearly demonstrate complete UPD11 in both syndromic and sporadic ERMS. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  15. Paternal Uniparental Disomy with Segmental Loss of Heterozygosity of Chromosome 11 are Hallmark Characteristics of Syndromic and Sporadic Embryonal Rhabdomyosarcoma

    PubMed Central

    Robbins, Katherine M.; Stabley, Deborah L.; Holbrook, Jennifer; Sahraoui, Rebecca; Sadreameli, Alexa; Conard, Katrina; Baker, Laura; Gripp, Karen W.; Sol-Church, Katia

    2016-01-01

    Costello syndrome (CS) arises from a typically paternally derived germline mutation in the proto-oncogene HRAS, and is considered a rasopathy. CS results in failure-to-thrive, intellectual disabilities, short stature, coarse facial features, skeletal abnormalities, congenital heart disease, and a predisposition for cancer, most commonly embryonal rhabdomyosarcoma (ERMS). The goal of this study was to characterize CS ERMS at the molecular level and to determine how divergent it is from sporadic ERMS. We characterized eleven ERMS tumors from eight unrelated CS patients, carrying paternally derived HRAS c.34G>A (p.Gly12Ser; 6) or c.35G>C (p.Gly12Ala; 2) mutations. Loss of heterozygosity (LOH) was evaluated in all CS ERMS by microarray and/or short tandem repeat (STR) markers spanning the entire chromosome 11. Eight CS ERMS tumors displayed complete paternal uniparental disomy of chromosome 11 (pUPD11), whereas two displayed UPD only at 11p and a second primary ERMS tumor showed UPD limited to 11p15.5, the classical hallmark for ERMS. Three sporadic ERMS cell lines (RD, Rh36, Rh18) and eight formalin fixed paraffin embedded (FFPE) ERMS tumors were also analyzed for RAS mutations and LOH status. We found a higher than anticipated frequency of RAS mutations (HRAS or NRAS; 50%) in sporadic ERMS cell lines/tumors. Unexpectedly, complete uniparental disomy (UPD11) was observed in five specimens, while the other six showed LOH extending across the p and q arms of chromosome 11. In this study, we are able to clearly demonstrate complete UPD11 in both syndromic and sporadic ERMS. PMID:27589201

  16. Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.

    PubMed

    Takama, Yuichi; Kubota, Akio; Nakayama, Masahiro; Higashimoto, Ken; Jozaki, Kosuke; Soejima, Hidenobu

    2014-12-01

    Herein is described a case of breast fibroadenomas in a 16-year-old girl with Beckwith-Wiedemann syndrome (BWS) and uniparental disomy (UPD) of chromosome 11p15.5. She was clinically diagnosed with BWS and direct closure was performed for an omphalocele at birth. Subtotal and 90% pancreatectomy were performed for nesidioblastosis at the ages 2 months and 8 years, respectively. Bilateral multiple breast fibroadenomas were noted at the age of 16 and 17 years. In this case, paternal UPD of chromosome 11p15.5 was identified on microsatellite marker analysis. The relevant imprinted chromosomal region in BWS is 11p15.5, and UPD of chromosome 11p15 is a risk factor for BWS-associated tumorigenicity. Chromosome 11p15.5 consists of imprinting domains of IGF2, the expression of which is associated with the tumorigenesis of various breast cancers. This case suggests that fibroadenomas occurred in association with BWS.

  17. Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model.

    PubMed

    Meng, Linyan; Person, Richard Erwin; Huang, Wei; Zhu, Ping Jun; Costa-Mattioli, Mauro; Beaudet, Arthur L

    2013-01-01

    Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the imprinted gene UBE3A. Individuals with AS suffer from intellectual disability, speech impairment, and motor dysfunction. Currently there is no cure for the disease. Here, we evaluated the phenotypic effect of activating the silenced paternal allele of Ube3a by depleting its antisense RNA Ube3a-ATS in mice. Premature termination of Ube3a-ATS by poly(A) cassette insertion activates expression of Ube3a from the paternal chromosome, and ameliorates many disease-related symptoms in the AS mouse model, including motor coordination defects, cognitive deficit, and impaired long-term potentiation. Studies on the imprinting mechanism of Ube3a revealed a pattern of biallelic transcription initiation with suppressed elongation of paternal Ube3a, implicating transcriptional collision between sense and antisense polymerases. These studies demonstrate the feasibility and utility of unsilencing the paternal copy of Ube3a via targeting Ube3a-ATS as a treatment for Angelman syndrome.

  18. Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model

    PubMed Central

    Meng, Linyan; Person, Richard Erwin; Huang, Wei; Zhu, Ping Jun; Costa-Mattioli, Mauro; Beaudet, Arthur L.

    2013-01-01

    Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the imprinted gene UBE3A. Individuals with AS suffer from intellectual disability, speech impairment, and motor dysfunction. Currently there is no cure for the disease. Here, we evaluated the phenotypic effect of activating the silenced paternal allele of Ube3a by depleting its antisense RNA Ube3a-ATS in mice. Premature termination of Ube3a-ATS by poly(A) cassette insertion activates expression of Ube3a from the paternal chromosome, and ameliorates many disease-related symptoms in the AS mouse model, including motor coordination defects, cognitive deficit, and impaired long-term potentiation. Studies on the imprinting mechanism of Ube3a revealed a pattern of biallelic transcription initiation with suppressed elongation of paternal Ube3a, implicating transcriptional collision between sense and antisense polymerases. These studies demonstrate the feasibility and utility of unsilencing the paternal copy of Ube3a via targeting Ube3a-ATS as a treatment for Angelman syndrome. PMID:24385930

  19. Long-Term Consequences for Offspring of Paternal Diabetes and Metabolic Syndrome

    PubMed Central

    Linares Segovia, Benigno; Gutiérrez Tinoco, Maximiliano; Izquierdo Arrizon, Angeles; Guízar Mendoza, Juan Manuel; Amador Licona, Norma

    2012-01-01

    Background. Recent studies have reported an increase in the prevalence of obesity and metabolic syndrome in children and adolescents. However, few have focused how diabetes mellitus and metabolic syndrome together in parents can influence on obesity and metabolic disturbances in offspring. Objective. To know the risk obesity and metabolic disturbance in children, adolescents, and young adults whose parents have diabetes mellitus and metabolic syndrome. Methods. A comparative survey was made in healthy children of parents with diabetes mellitus and metabolic syndrome compared with offspring of healthy parents. We performed anthropometry and evaluated blood pressure, glucose, total cholesterol, HDL cholesterol, and triglycerides levels in plasma. We registered parent antecedents to diabetes mellitus and metabolic syndrome and investigated the prevalence of overweight, obesity, and metabolic disturbances in offspring. Results. We studied 259 subjects of 7 to 20 years of age. The prevalence of overweight and obesity was 27% and 37%, respectively. The highest proportion of BMI >95th of the entire group was found in offspring with both diabetic parents. Glucose and total cholesterol levels were lower in the group with healthy parents compared with the group with diabetic mother and metabolic syndrome but with healthy father. HDL cholesterol was higher in the group with both healthy parents than in the group with diabetic mother and metabolic syndrome but healthy father. Conclusions. The offspring of parents with diabetes plus metabolic syndrome showed higher proportion of variables related to metabolic syndrome compared with healthy parents. PMID:23193389

  20. Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age-effect” syndromes

    PubMed Central

    Goriely, Anne; Lord, Helen; Lim, Jasmine; Johnson, David; Lester, Tracy; Firth, Helen V; Wilkie, Andrew OM

    2010-01-01

    Crouzon syndrome is a dominantly inherited disorder characterized by craniosynostosis and facial dysostosis, caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene; it belongs to a class of disorders that mostly arise as de novo mutations and exhibit a near-exclusive paternal origin of mutation and elevated paternal age (“paternal age effect”). However, even if this is the major mode of origin of mutations in paternal age-effect disorders, germline mosaicism may also occur. Here we describe the first molecularly documented evidence of germline and somatic mosaicism for FGFR2 mutation, identified in the mother of a child with Crouzon syndrome caused by a heterozygous c.1007A>G (p.Asp336Gly) substitution. Levels of maternal somatic mosaicism for this mutation, estimated by pyrosequencing, ranged from 3.3% in hair roots to 14.1% in blood. Our observation underlines the importance of parental molecular testing for accurate genetic counseling of the risk of recurrence for Crouzon, and other paternal age-effect syndromes. © 2010 Wiley-Liss, Inc. PMID:20635358

  1. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

    SciTech Connect

    Cassidy, S.B.; Lai, Li-Wen; Erickson, R.P. ); Magnuson, L.; Thomas, E.; Herrmann, J. ); Gendron, R. )

    1992-10-01

    Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS). The authors describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may precede uniparental disomy in a fetus. Chorionic villus sampling performed for advanced maternal age revealed trisomy 15 in all direct and cultured cells, though the fetus appeared normal. Chromosome analysis of amniocytes obtained at 15 wk was normal in over 100 cells studied. The child was hypotonic at birth, and high-resolution banding failed to reveal the deletion of 15q11-13, a deletion which is found in 50%-70% of patients with PWS. Over time, typical features of PWS developed. Molecular genetic analysis using probes for chromosome 15 revealed maternal disomy. Maternal nondisjunction with fertilization of a disomic egg by a normal sperm, followed by loss of the paternal 15, is a likely cause of confined placental mosaicism and uniparental disomy in this case of PWS, and advanced maternal age may be a predisposing factor. 38 refs., 3 figs., 2 tabs.

  2. Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.

    PubMed Central

    Eggermann, T; Eggermann, K; Mergenthaler, S; Kuner, R; Kaiser, P; Ranke, M B; Wollmann, H A

    1998-01-01

    In a continuing study on the aetiology of Silver-Russell syndrome (SRS), we detected a patient with a heterozygous deletion in the growth hormone gene cluster (17q22-q24). The deletion of the chorionic somatomammotrophin hormone 1 (CSH1) gene was inherited from the patient's father. The patient shows typical symptoms of SRS. Though deletions of CSH1 have been reported without any phenotypic consequences, the heterozygous deletion might be involved in the aetiology of SRS in the case presented here. Apart from other observations in SRS, like maternal uniparental disomy 7, changes in the genomic region 17q22-qter might be responsible for the expression of this syndrome for at least some of the patients, leading to the heterogeneity of SRS. Images PMID:9733042

  3. Mechanisms of activation of the paternally expressed genes by the Prader-Willi imprinting center in the Prader-Willi/Angelman syndromes domains

    PubMed Central

    Rabinovitz, Shiri; Kaufman, Yotam; Ludwig, Guy; Razin, Aharon; Shemer, Ruth

    2012-01-01

    The Prader-Willi syndrome/Angelman syndrome (PWS/AS) imprinted domain is regulated by a bipartite imprinting control center (IC) composed of a sequence around the SNRPN promoter (PWS-IC) and a 880-bp sequence located 35 kb upstream (AS-IC). The AS-IC imprint is established during gametogenesis and confers repression upon PWS-IC on the maternal allele. Mutation at PWS-IC on the paternal allele leads to gene silencing across the entire PWS/AS domain. This silencing implies that PWS-IC functions on the paternal allele as a bidirectional activator. Here we examine the mechanism by which PWS-IC activates the paternally expressed genes (PEGs) using transgenes that include the PWS-IC sequence in the presence or absence of AS-IC and NDN, an upstream PEG, as an experimental model. We demonstrate that PWS-IC is in fact an activator of NDN. This activation requires an unmethylated PWS-IC in the gametes and during early embryogenesis. PWS-IC is dispensable later in development. Interestingly, a similar activation of a nonimprinted gene (APOA1) was observed, implying that PWS-IC is a universal activator. To decipher the mechanism by which PWS-IC confers activation of remote genes, we performed methylated DNA immunoprecipitation (MeDIP) array analysis on lymphoblast cell lines that revealed dispersed, rather than continued differential methylation. However, chromatin conformation capture (3c) experiments revealed a physical interaction between PWS-IC and the PEGs, suggesting that activation of PEGs may require their proximity to PWS-IC. PMID:22529396

  4. X inactivation in Rett syndrome: A preliminary study showing partial preferential inactivation of paternal X with the M27{beta} probe

    SciTech Connect

    Camus, P.; Abbadi, N.; Gilgenkrantz, S.

    1994-04-15

    Rett syndrome (RS) is a severe progressive neurological disorder occurring exclusively in females. Most cases are sporadic. The few familial cases (less than 1%) cannot be explained by a simple mode of inheritance. Several hypotheses have been proposed: X-linked male lethal mutation, maternal uniparental disomy, fresh mutation on the X chromosome, involvement of mitochondrial DNA and differential inactivation with metabolic interference of X-borne alleles. The authors have examined the pattern of X inactivation in 10 affected girls who were selected according to the clinical criteria previously described and accepted by the French Rett Scientific Committee. The X inactivation pattern was studied by analysis of methylation at the hypervariable locus DXS255 with the M27{beta} probe. The results show a more-or-less skewed inactivation of paternal X in 8 Rett females, and 2 cases of symmetrical inactivation. In control girls, inactivation was symmetrical cases and the maternal X has been preferentially inactivated in the other 2 cases. In no case was a total skewed inactivation observed. Though there was clear evidence for a preferential paternal X inactivation that was statistically significant further studies are necessary to establish a relationship between X inactivation pattern and Rett syndrome.

  5. The Source for Syndromes 2.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different lesser-known syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Apert syndrome; (2) Beckwith-Wiedemann syndrome; (3) CHARGE syndrome; (4) Cri-du-Chat…

  6. The Source for Syndromes 2.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different lesser-known syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Apert syndrome; (2) Beckwith-Wiedemann syndrome; (3) CHARGE syndrome; (4) Cri-du-Chat…

  7. Decrease in the CGG{sub n} trinucleotide repeat mutation of the fragile X syndrome to normal size range during paternal transmission

    SciTech Connect

    Vaeisaenen, M.L.; Haataja, R.; Leisti, J.

    1996-09-01

    The fragile X syndrome, the most common inherited form of mental retardation, is caused by the expansion of a CGG{sub n} trinucleotide repeat in the FMR-1 gene. Although the repeat number usually increases during transmission, few cases with reduction of an expanded CGG{sub n} repeat back to the normal size range have been reported. We describe for the first time a family in which such reduction has occurred in the paternal transmission. The paternal premutation ({Delta} = 300 hp) was not detected in one of the five daughters or in the son of this daughter, although he had the grandpaternal RFLP haplotype. Instead, fragments indicating the normal CGG{sub n} repeat size were seen on a Southern blot probed with StB12.3. PCR analysis of the CGG{sub n} repeat confirmed this; in addition to a maternal allele of 30 repeats, an allele of 34 repeats was detected in the daughter and, further, in her son. Sequencing of this new allele revealed a pure CGG{sub n} repeat configuration without AGG interruptions. No evidence for a somatic mosaicism of a premutation allele in the daughter or a normal allele in her father was detected when investigating DNA derived from blood lymphocytes and skin fibroblasts. Another unusual finding in this family was lack of the PCR product of the microsatellite marker RS46 (DXS548) in one of the grandmaternal X chromosomes, detected as incompatible inheritance of RS46 alleles. The results suggest an intergenerational reduction in the CGG{sub n} repeat from premutation size to the normal size range and stable transmission of the contracted repeat to the next generation. However, paternal germ-line mosaicism could not be excluded as an alternative explanation for the reverse mutation. 37 refs., 4 figs.

  8. Relating paternity to paternal care.

    PubMed Central

    Sheldon, Ben C

    2002-01-01

    Intuition suggests, to most people, that parents should be selected to care for their offspring in relation to how certain they are of being the parents of those offspring. Theoretical models of the relationship between parental investment and certainty of parentage predict the two to be related only when some other assumptions are made, few of which can be taken for granted. I briefly review the models and their assumptions, and discuss two kinds of difficulty facing an empiricist wishing to test the models. The first is the problem of unmeasured (and immeasurable) variables. The second is the problem that even the most extensive models do not capture the complexity that can be demonstrated in real systems. I illustrate some of these problems, and some qualitative tests of the models, with experimental work on a population of the collared flycatcher. My conclusion is that although there are some cases where the models have qualitative support, we are a long way from understanding whether paternal care is commonly adjusted in relation to certainty of paternity. PMID:11958702

  9. Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype–genotype correlations in Beckwith–Wiedemann syndrome

    PubMed Central

    Grati, F R; Turolla, L; D'Ajello, P; Ruggeri, A; Miozzo, M; Bracalente, G; Baldo, D; Laurino, L; Boldorini, R; Frate, E; Surico, N; Larizza, L; Maggi, F; Simoni, G

    2007-01-01

    Background The phenotypic variability in Beckwith–Wiedemann syndrome (BWS) reflects the genetic heterogeneity of the mechanism which by default leads to the deregulation of genes located at 11p15.5. Genotype–phenotype correlation studies have demonstrated an association between omphalocoele and CDKN1C/p57 mutations or hypermethylation. Paternal uniparental disomy 11 (pUPD11) has been described only in the mosaic condition with both uniparental and biparental cell lines, and no association with omphalocoele has been pointed out. Methods Two cases are presented here, in which a paternal segmental UPD11 was detected by molecular investigation of amniotic fluid cell cultures after the presence of apparently isolated omphalocoele was revealed in the fetuses by ultrasound scan. Further studies were performed on additional autoptic feto‐placental tissues to characterise the distribution of the uniparental cell line and to unmask any biparental lineage in order to document in more detail the as yet unreported association between omphalocoele and pUPD11. Results Results on the UPD distribution profile showed that the abdominal organs have a predominant uniparental constitution. This condition could mimic the effect of CDKN1C/p57 inactivation, causing the omphalocoele. Conclusion New genotype–phenotype correlations emerge from the investigated cases, suggesting that molecular analysis be extended to all cases with fetal omphalocoele in order to establish the incidence of pUPD11 in complete BWS and in monosymptomatic/mild forms. PMID:17259293

  10. Paternally derived der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)dn in a mosaic case with Turner syndrome.

    PubMed

    Polityko, Anna D; Khurs, Olga M; Kulpanovich, Anna I; Mosse, Konstantin A; Solntsava, Angelica V; Rumyantseva, Natalia V; Naumchik, Irina V; Liehr, Thomas; Weise, Anja; Mkrtchyan, Hasmik

    2009-01-01

    An unusual mosaic karyotype was detected in a 6-year-old female patient with clinical diagnosis of Turner syndrome (TS). Cytogenetic and molecular cytogenetic studies revealed besides a cell line with 45,X a second cell line where the short arm of the Y-chromosome was translocated onto the short arm of a chromosome 7; karyotype: 45,X,der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)/45,X. To delineate the mechanisms of rearrangement and karyotypic evolution in this case, further studies were performed. A maternal origin of the X-chromosome and biparental origin of both chromosomes 7 were determined by microsatellite analysis. Furthermore, using parental-origin-determination fluorescence in situ hybridization (pod-FISH) it could be established that the derivative chromosome 7 was of paternal origin. Overall, this is to the best of our knowledge the first report of such a complex mosaic TS karyotype.

  11. Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses.

    PubMed

    Tzetis, Maria; Konstantinidou, Anastasia; Sofocleous, Christalena; Kosma, Konstantina; Mitrakos, Anastasios; Tzannatos, Christina; Kitsiou-Tzeli, Sofia

    2016-07-01

    Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome that can be accompanied by disordered steroidogenesis, and is mainly caused by mutations in the POR gene, inherited in an autosomal recessive manner. Here we report the prenatal and postmortem findings of three sibling fetuses with ABS as a result of compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in the POR gene. Prenatal ultrasound and postmortem examination were performed in three sibling fetuses with termination of pregnancy at 22, 23, and 17 weeks of gestation, respectively. Molecular analysis of fetus 2 and 3 included (a) bidirectional sequencing of exon 8 of the POR gene after amplification of the specific locus by polymerase chain reaction, to detect single nucleotide variants (SNVs) and (b) high resolution comparative genomic hybridization (CGH) positive single nucleotide polymorphism array CGH (aCGH) analysis to detect copy number variants (CNVs), copy neutral areas of loss of heterozygosity and uniparental disomy. The diagnosis of ABS was suggested by the postmortem examination findings. The combination of the POR gene molecular analysis and aCGH revealed a compound heterozygous genotype of a maternal SNV (p.A287P) and a paternal CNV (NC_000007.13:g.(?_75608488)_(75615534_?)del). To the best of our knowledge, these sibling fetuses add to the few reported cases of ABS, caused by a combination of a SNV and a CNV in the POR gene. The detailed description of the pathologic and radiographic findings of second trimester fetuses affected with ABS adds novel knowledge concerning the early ABS phenotype, in lack of previous relevant reports. Birth Defects Research (Part A) 106:536-541, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  12. Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-γ Receptor 1 Deficiency

    PubMed Central

    Prando, Carolina; Boisson-Dupuis, Stéphanie; Grant, Audrey; Kong, Xiao-Fei; Bustamante, Jacinta; Feinberg, Jacqueline; Chapgier, Ariane; Rose, Yoann; Jannière, Lucile; Rizzardi, Elena; Zhang, Qiuping; Shanahan, Catherine M; Viollet, Louis; Lyonnet, Stanislas; Abel, Laurent; Ruga, Ezia Maria; Casanova, Jean-Laurent

    2010-01-01

    Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency associated with clinical disease caused by weakly virulent mycobacterial species. Interferon gamma receptor 1 (IFN-γR1) deficiency is a genetic etiology of MSMD. We describe the clinical and genetic features of a seven-year-old Italian boy suffering from MSMD associated with a complex phenotype, including neonatal hyperglycemia, neuromuscular disease, and dysmorphic features. The child also developed necrotizing pneumonia caused by Rhodococcus equi. The child is homozygous for a nonsense mutation in exon 3 of IFNGR1 as a result of paternal uniparental disomy (UPD) of the entire chromosome 6. This is the first reported case of uniparental disomy resulting in a complex phenotype including MSMD. PMID:20186794

  13. Paternal Age and Sporadic Schizophrenia

    PubMed Central

    Malaspina, Dolores; Corcoran, Cheryl; Fahim, Cherine; Berman, Ariela; Harkavy-Friedman, Jill; Yale, Scott; Goetz, Deborah; Goetz, Raymond; Harlap, Susan; Gorman, Jack

    2010-01-01

    Schizophrenia is an etiologically heterogeneous syndrome. It has a strong genetic component and exists in clinically indistinguishable familial and nonfamilial (sporadic) forms. A significant role for de novo genetic mutations in genetic schizophrenia vulnerability is suggested by a strong monotonic increase in schizophrenia risk with advancing paternal age. However, an alternative explanation for the paternal age effect in schizophrenia is that childbearing is delayed in fathers who themselves have genetic schizophrenia vulnerability. In this study, we compared paternal birth ages between patient groups with familial (n = 35) and sporadic (n = 68) patients with DSM-IV schizophrenia from an inpatient schizophrenia research unit. If later age of fathering children is related to having some genetic schizophrenia vulnerability, then paternal birth age should be later in familial schizophrenia cases than in sporadic cases, and any association of father’s age and schizophrenia risk in offspring would be a spurious finding, unrelated to etiology. However, if de novo mutations cause sporadic schizophrenia, then patients without a family history of schizophrenia would have older fathers than familial patients. We found that patients without a family history of schizophrenia had significantly older fathers (4.7 years) than familial patients; so later childbirth was not attributable to parental psychiatric illness. These findings support the hypothesis that de novo mutations contribute to the risk for sporadic schizophrenia. PMID:11920852

  14. Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues

    PubMed Central

    Heuzé, Yann; Singh, Nandini; Basilico, Claudio; Jabs, Ethylin Wang; Holmes, Greg; Richtsmeier, Joan T

    2014-01-01

    Bones of the craniofacial skeleton are derived from two distinct cell lineages, cranial neural crest and mesoderm, and articulate at sutures and synchondroses which represent major bone growth sites. Premature fusion of cranial suture(s) is associated with craniofacial dysmorphogenesis caused in part by alteration in the growth potential at sutures and can occur as an isolated birth defect or as part of a syndrome, such as Apert syndrome. Conditional expression of the Apert FGFR2 S252W mutation in mesoderm was previously shown to be necessary and sufficient to cause coronal craniosynostosis. Here we used micro computed tomography images of mice expressing the Apert mutation constitutively in either mesoderm or neural crest to quantify craniofacial shape variation and suture fusion patterns, and to identify shape changes in craniofacial bones derived from the lineage not expressing the mutation, referred to here as secondary shape changes. Our results show that at postnatal day 0: (i) conditional expression of the FGFR2 S252W mutation in neural crest-derived tissues causes a more severe craniofacial phenotype than when expressed in mesoderm-derived tissues; and (ii) both mesoderm- and neural crest-specific mouse models display secondary shape changes. We also show that premature suture fusion is not necessarily dependent on the expression of the FGFR2 S252W mutation in the sutural mesenchyme. More specifically, it appears that suture fusion patterns in both mouse models are suture-specific resulting from a complex combination of the influence of primary abnormalities of biogenesis or signaling within the sutures, and timing. PMID:24632501

  15. Case-control analysis of paternal age and trisomic anomalies.

    PubMed

    De Souza, E; Morris, J K

    2010-11-01

    To determine whether older paternal age increases the risk of fathering a pregnancy with Patau (trisomy 13), Edwards (trisomy 18), Klinefelter (XXY) or XYY syndrome. Case-control: cases with each of these syndromes were matched to four controls with Down syndrome from within the same congenital anomaly register and with maternal age within 6 months. Data from 22 EUROCAT congenital anomaly registers in 12 European countries. Diagnoses with observed or (for terminations) predicted year of birth from 1980 to 2005, comprising live births, fetal deaths with gestational age ≥ 20 weeks and terminations after prenatal diagnosis of the anomaly. Data include 374 cases of Patau syndrome, 929 of Edwards syndrome, 295 of Klinefelter syndrome, 28 of XYY syndrome and 5627 controls with Down syndrome. Odds ratio (OR) associated with a 10-year increase in paternal age for each anomaly was estimated using conditional logistic regression. Results were adjusted to take account of the estimated association of paternal age with Down syndrome (1.11; 95% CI 1.01 to 1.23). The OR for Patau syndrome was 1.10 (95% CI 0.83 to 1.45); for Edwards syndrome, 1.15 (0.96 to 1.38); for Klinefelter syndrome, 1.35 (1.02 to 1.79); and for XYY syndrome, 1.99 (0.75 to 5.26). There was a statistically significant increase in the odds of Klinefelter syndrome with increasing paternal age. The larger positive associations of Klinefelter and XYY syndromes with paternal age compared with Patau and Edwards syndromes are consistent with the greater percentage of these sex chromosome anomalies being of paternal origin.

  16. Soluble form of FGFR2 with S252W partially prevents craniosynostosis of the apert mouse model.

    PubMed

    Morita, Jumpei; Nakamura, Masataka; Kobayashi, Yukiho; Deng, Chu-Xia; Funato, Noriko; Moriyama, Keiji

    2014-04-01

    Apert syndrome (AS) is characterized by craniosynostosis, midfacial hypoplasia, and bony syndactyly. It is an autosomal dominantly inherited disease caused by point mutations (S252W or P253R) in fibroblast growth factor receptor (FGFR) 2. These mutations cause activation of FGFR2 depending on ligand binding. Recently, an AS mouse model, Fgfr2(+/) (S252W) , showed phenotypes similar to those of AS patients. We previously reported that the soluble form of FGFR2(S252W) (sFGFR2IIIc(S252W) ) efficiently inhibits enhanced osteoblastic differentiation caused by FGFR2 activation in AS in vitro, presumably because FGFs binding to FGFRs is interrupted. In this study, we developed Fgfr2(+/) (S252W) (Ap) mice expressing the sFGFR2IIIc(S252W) protein, and we investigated the effects of sFGFR2IIIc(S252W) on AS-like phenotypes. In Ap mice, the coronal suture (CS) was fused prematurely at P1. In addition, the mice exhibited a widened interfrontal suture (IFS) with ectopic bone and thickened cartilage formation. In Fgfr2(+/) (S252W) sFGFR2IIIc(S252W) (Ap/Sol) mice, the CS was similar to that of wild-type mice. Ap/Sol mice did not show any ectopic bone or cartilage formation in the IFS, but showed a wider IFS than that of the wild-type mice. sFGFR2IIIc(S252W) may partially prevent craniosynostosis in the Apert mouse model by affecting the CS and IFS in vivo. Copyright © 2013 The Authors Developmental Dynamics published by Wiley Periodicals, Inc. on behalf of American Association of Anatomists.

  17. Paternity fraud and compensation for misattributed paternity.

    PubMed

    Draper, Heather

    2007-08-01

    Claims for reimbursement of child support, the reversal of property settlements and compensation can arise when misattributed paternity is discovered. The ethical justifications for such claims seem to be related to the financial cost of bringing up children, the absence of choice about taking on these expenses, the hard work involved in child rearing, the emotional attachments that are formed with children, the obligation of women to make truthful claims about paternity, and the deception involved in infidelity. In this paper it is argued that there should not be compensation for infidelity and that reimbursement is appropriate where the claimant has made child support payments but has not taken on the social role of father. Where the claimant's behaviour suggests a social view of fatherhood, on the other hand, claims for compensation are less coherent. Where the genetic model of fatherhood dominates, the "other" man (the woman's lover and progenitor of the children) might also have a claim for the loss of the benefits of fatherhood. It is concluded that claims for reimbursement and compensation in cases of misattributed paternity produce the same distorted and thin view of what it means to be a father that paternity testing assumes, and underscores a trend that is not in the interests of children.

  18. Paternity fraud and compensation for misattributed paternity

    PubMed Central

    Draper, Heather

    2007-01-01

    Claims for reimbursement of child support, the reversal of property settlements and compensation can arise when misattributed paternity is discovered. The ethical justifications for such claims seem to be related to the financial cost of bringing up children, the absence of choice about taking on these expenses, the hard work involved in child rearing, the emotional attachments that are formed with children, the obligation of women to make truthful claims about paternity, and the deception involved in infidelity. In this paper it is argued that there should not be compensation for infidelity and that reimbursement is appropriate where the claimant has made child support payments but has not taken on the social role of father. Where the claimant's behaviour suggests a social view of fatherhood, on the other hand, claims for compensation are less coherent. Where the genetic model of fatherhood dominates, the “other” man (the woman's lover and progenitor of the children) might also have a claim for the loss of the benefits of fatherhood. It is concluded that claims for reimbursement and compensation in cases of misattributed paternity produce the same distorted and thin view of what it means to be a father that paternity testing assumes, and underscores a trend that is not in the interests of children. PMID:17664309

  19. Paternal under-nutrition programs metabolic syndrome in offspring which can be reversed by antioxidant/vitamin food fortification in fathers

    PubMed Central

    McPherson, Nicole O.; Fullston, Tod; Kang, Wan Xian; Sandeman, Lauren Y.; Corbett, Mark A.; Owens, Julie A.; Lane, Michelle

    2016-01-01

    There is an ever increasing body of evidence that demonstrates that paternal over-nutrition prior to conception programs impaired metabolic health in offspring. Here we examined whether paternal under-nutrition can also program impaired health in offspring and if any detrimental health outcomes in offspring could be prevented by micronutrient supplementation (vitamins and antioxidants). We discovered that restricting the food intake of male rodents reduced their body weight, fertility, increased sperm oxidative DNA lesions and reduced global sperm methylation. Under-nourished males then sired offspring with reduced postnatal weight and growth but somewhat paradoxically increased adiposity and dyslipidaemia, despite being fed standard chow. Paternal vitamin/antioxidant food fortification during under-nutrition not only normalised founder oxidative sperm DNA lesions but also prevented early growth restriction, fat accumulation and dyslipidaemia in offspring. This demonstrates that paternal under-nutrition reduces postnatal growth but increases the risk of obesity and metabolic disease in the next generation and that micronutrient supplementation during this period of under-nutrition is capable of restoring offspring metabolic health. PMID:27255552

  20. A case of Pfeiffer syndrome.

    PubMed

    Park, Moon Sung; Yoo, Jae Eon; Chung, Jaiho; Yoon, Soo Han

    2006-04-01

    Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers and toes, mild proptosis, choanal hypoplasia and maxillary hypoplasia.

  1. Parental age and unbalanced Robertsonian translocations associated with Down syndrome and Patau syndrome: comparison with maternal and paternal age effects for 47, +21 and 47, +13.

    PubMed

    Hook, E B

    1984-10-01

    Data are analysed on livebirths with trisomic syndromes associated with unbalanced Robertsonian translocations born from 1968 to 1981 and reported to the New York State Chromosome Registry. The maternal ages of reported cases were compared with those of the livebirths in the general population who were born in the same year. The number of translocations studied, the mean case-control differences in years in maternal age (and the standard errors of the mean) were respectively, as follows: D/21 mutants, n = 36, -0.1 (+/- 0.9); G/21 mutants, n = 46, +1.5 (+/-0.8); D/13 mutants, n = 16, +0.6 (+/-1.5); D/21 inherited, n = 12, -1.0 (+/-1.4); G/21 inherited, n = 3, -0.3 (+/-4.4); and D/13 inherited, n = 6, +2.1 (+/-2.4). There was little change in any category if the few cases diagnosed prenatally were included. Only the value for the G/21 mutants is significantly different from zero at the 0.05 level. (The results on G/21 mutants in maternal age are consistent with an earlier Japanese report of an increase of about 2 years over the control values.) The distribution of maternal ages suggests that G/21 mutants may be produced both by maternal age-independent and maternal age-dependent components. The data on D/21 mutants, however, do not indicate the negative association with maternal age reported in Japan. Differences between this study and the Japanese study in analyses of controls may explain this slight variation. But in any event both studies reveal no evidence for an increase in maternal age for unbalanced D/21 mutant or D/21 inherited translocations associated with Down syndrome. This is evidence against the hypothesis that relaxed selection during gestation, after recognition of pregnancy, accounts for the maternal age effects of 47, +21. In comparison with the results on Robertsonian translocations, the case-control differences in maternal age in years (and the standard errors of the mean) for 47, +21 for 2148 livebirths was +4.6 (+/-0.2), and for 2354 cases

  2. Paternity analysis in Excel.

    PubMed

    Rocheta, Margarida; Dionísio, F Miguel; Fonseca, Luís; Pires, Ana M

    2007-12-01

    Paternity analysis using microsatellite information is a well-studied subject. These markers are ideal for parentage studies and fingerprinting, due to their high-discrimination power. This type of data is used to assign paternity, to compute the average selfing and outcrossing rates and to estimate the biparental inbreeding. There are several public domain programs that compute all this information from data. Most of the time, it is necessary to export data to some sort of format, feed it to the program and import the output to an Excel book for further processing. In this article we briefly describe a program referred from now on as Paternity Analysis in Excel (PAE), developed at IST and IBET (see the acknowledgments) that computes paternity candidates from data, and other information, from within Excel. In practice this means that the end user provides the data in an Excel sheet and, by pressing an appropriate button, obtains the results in another Excel sheet. For convenience PAE is divided into two modules. The first one is a filtering module that selects data from the sequencer and reorganizes it in a format appropriate to process paternity analysis, assuming certain conventions for the names of parents and offspring from the sequencer. The second module carries out the paternity analysis assuming that one parent is known. Both modules are written in Excel-VBA and can be obtained at the address (www.math.ist.utl.pt/~fmd/pa/pa.zip). They are free for non-commercial purposes and have been tested with different data and against different software (Cervus, FaMoz, and MLTR).

  3. Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.

    PubMed

    Corsello, Giovanni; Salzano, Emanuela; Vecchio, Davide; Antona, Vincenzo; Grasso, Marina; Malacarne, Michela; Carella, Massimo; Palumbo, Pietro; Piro, Ettore; Giuffrè, Mario

    2015-12-01

    The human chromosome 14q32 carries a cluster of imprinted genes which include the paternally expressed genes (PEGs) DLK1 and RTL1, as well as the maternally expressed genes (MEGs) MEG3, RTL1as, and MEG8. PEGs and MEGs expression at the 14q32.2-imprinted region are regulated by two differentially methylated regions (DMRs): the IG-DMR and the MEG3-DMR, which are respectively methylated on the paternal and unmethylated on the maternal chromosome 14 in most cells. Genetic and epigenetic abnormalities affecting these imprinted gene clusters result in two different phenotypes currently known as maternal upd(14) syndrome and paternal upd(14) syndrome. However, only few patients carrying a maternal deletion at the 14q32.2-imprinted critical region have been reported so far. Here we report on the first patient with a maternal de novo deletion of 160 kb at the 14q32.2 chromosome that does not involves the IG-DMR or the MEG3-DMR but elicits a full upd(14)pat syndrome's phenotype encompassing the three mentioned MEGs. By the analysis of this unique genotype-phenotype correlation, we further widen the spectrum of the congenital anomalies associated to this rare disorder and we propose that the paternally expressed imprinted RTL1 gene, as well as its maternally expressed RTL1as antisense transcript, may play a prominent causative role.

  4. Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology.

    PubMed

    Thompson, Russell John; Bolton, Patrick F

    2003-04-01

    The case of a 15-year-old male with Angelman syndrome, paternal uniparental disomy of chromosome 15, and a small supernumerary marker chromosome is discussed. Assessment of cognitive functioning revealed an uneven profile of ability across different domains; in particular, receptive language ability was found to be superior to expressive language ability, whilst both gross and fine motor skills were found to be relatively well developed. Assessment using the Autism Diagnostic Observation Schedule showed very little evidence of autistic symptomatology. The patient showed an interest in social interaction and used a variety of methods to communicate, including some gestures and several single words. A clinical history revealed febrile convulsions during childhood but an absence of seizures in the previous 5 years. The patient was not hypopigmented, and height, weight, and head circumference were within the normal range for his age. The implications of these features are discussed in the context of previous work describing a milder phenotype in nondeletion cases of Angelman syndrome and work that has examined the prevalence of autism spectrum disorders amongst individuals with Angelman syndrome.

  5. Paternal programming in sticklebacks

    PubMed Central

    Stein, Laura R.; Bell, Alison M.

    2015-01-01

    In a wide range of organisms, including humans, mothers can influence offspring via the care they provide. Comparatively little is known about the effects of fathering on offspring. Here, we test the hypothesis that fathers are capable of programming their offspring for the type of environment they are likely to encounter. Male threespine sticklebacks, Gasterosteus aculeatus, were either exposed to predation risk while fathering or not. Fathers altered their paternal behaviour when exposed to predation risk, and consequently produced adult offspring with phenotypes associated with strong predation pressure (smaller size, reduced body condition, reduced behavioural activity). Moreover, more attentive fathers produced offspring that showed stronger antipredator responses. These results are consistent with behaviourally mediated paternal programming: fathers can alter offspring phenotypes to match their future environment and influence offspring traits well into adulthood. PMID:27011391

  6. Toward pathogenesis of Apert cleft palate: FGF, FGFR, and TGF beta genes are differentially expressed in sequential stages of human palatal shelf fusion.

    PubMed

    Britto, Jonathan A; Evans, Robert D; Hayward, Richard D; Jones, Barry M

    2002-05-01

    Critical cellular events at the palatal medial edge epithelium (MEE) occur in unperturbed mammalian palatogenesis, the molecular control of which involves a number of growth factors including transforming growth factor beta 3 (TGF beta 3). Apert syndrome is a monogenic human disorder in which cleft palate has been significantly correlated to the fibroblast growth factor receptor (FGFR) 2-Ser252Trp mutation. We report the relative expression of these genes in human palatogenesis. The expression of the IgIIIa/b and IgIIIa/c transcript isoforms of FGFR2 and the proteins FGFR1, FGFR2, and FGFR3 was studied in situ throughout the temporospatial sequence of human palatal shelf fusion and correlated with the expression of TGF beta 3. In addition, the immunolocalization of the ligand FGFs 2, 4, and 7 was undertaken together with the intracellular transcription factor STAT1, which is activated by FGFR signaling. FGFRs are differentially expressed in the mesenchyme and epithelia of fusing palatal shelves, in domains overlapping those of their ligands FGF4 and FGF2 but not FGF7. Coexpression is seen with TGF beta 3, which is implicated in MEE dynamics and FGF and FGFR upregulation, and STAT1, an intracellular transcription factor that mediates apoptosis. The coregulation of molecules of the FGFR signaling pathway with TGF beta 3 throughout the stages of human palatal fusion suggests their controlling influence on apoptosis and epitheliomesenchymal transdifferentiation at the MEE. Experimental evidence links FGFR2-IgIIIa/b loss of function with palatal clefting, and these correlated data suggest a unique pathological mechanism for Apert cleft palate.

  7. [Paternal postpartum depression: a review].

    PubMed

    Gressier, Florence; Tabat-Bouher, Myriam; Cazas, Odile; Hardy, Patrick

    2015-04-01

    Postpartum depression affects 1 in 10 fathers worldwide. Paternal PPD tends to develop gradually during the first year. Maternal depression is one of the most important risk factors for depression in fathers. Changes in hormones during the postpartum period in fathers are biological risk factors for PPD. Paternal PPD has negative impacts on family. Paternal PPD has negative effects on the infant's development, independently of maternal PPD. It is essential to identify paternal PPD at early stage. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  8. Hydrocephalus in pfeiffer syndrome.

    PubMed

    Moore, M H; Hanieh, A

    1994-07-01

    A review of the clinical records and CT scan findings of 11 patients with Pfeiffer syndrome showed ventricular dilation in the majority. In 7 cases the ventriculomegaly was sufficiently severe as to be classified as hydrocephalus and warrant ventricular shunting. The common co-existence of hydrocephalus and multiple premature sutural fusion in Pfeiffer syndrome is a further factor in the apparently worse prognosis of this condition when compared to Crouzon and Apert syndrome. Primary cerebral anomalies as a causative factor for the development of hydrocephalus are infrequently recorded. Extensive craniosynostosis with cranial base distortion and constriction would appear to contribute to the production of hydrocephalus.

  9. Paternalism and partial autonomy.

    PubMed Central

    O'Neill, O

    1984-01-01

    A contrast is often drawn between standard adult capacities for autonomy, which allow informed consent to be given or withheld, and patients' reduced capacities, which demand paternalistic treatment. But patients may not be radically different from the rest of us, in that all human capacities for autonomous action are limited. An adequate account of paternalism and the role that consent and respect for persons can play in medical and other practice has to be developed within an ethical theory that does not impose an idealised picture of unlimited autonomy but allows for the variable and partial character of actual human autonomy. PMID:6520849

  10. S267P mutation in FGFR2: first report in a patient with Crouzon syndrome.

    PubMed

    Ke, Ronghu; Yang, Xianxian; Ge, Min; Cai, Tianyi; Lei, Jiaqi; Mu, Xiongzheng

    2015-03-01

    It has been known for several years that mutations in the fibroblast growth factor receptor (FGFR2) result in syndromic craniosynostosis including Apert, Crouzon, or Pfeiffer syndromes. Here, we report on a child with a clinically diagnosed Crouzon syndrome that shows the missense point mutation S267P in FGFR2 gene. The mutation is firstly identified in Crouzon syndrome. Our observations expand the molecular spectrum of FGFR2 mutations in the syndrome.

  11. Human mutagens: evidence from paternal exposure

    SciTech Connect

    Narod, S.A.; Douglas, G.R.; Nestmann, E.R.; Blakey, D.H.

    1988-01-01

    The importance of inherited mutations as a cause of human disease has been established clearly through examples of well-defined genetic anomalies, such as Down syndrome and retinoblastoma. Furthermore, it is suspected that environmental contaminants induce mutations resulting in increased risk for such defects in subsequent generations of persons exposed. The present lack of direct evidence for induced inherited genetic disorders in human beings hampers the development of risk estimation techniques for extrapolation from animal models. The most extensive prospective epidemiologic studies of inherited genetic effects have involved survivors of atomic bomb detonations and patients treated with cancer chemotherapy. In neither case has a significant elevation in inherited genetic effects or cancer been detected in the offspring of exposed individuals. Epidemiologic studies of subjects receiving chronic exposure may be confounded by the effect of maternal exposure during pregnancy. Consideration of only paternal exposure can minimize the confounding influence of teratogenicity, enhancing the resolving power of studies for inherited effects. Using this approach, retrospective (case-control) studies of childhood cancer patients have provided limited but suggestive evidence for inheritance of induced effects. Endpoints, such as congenital malformations and spontaneous abortion following paternal exposure, can also be considered as indicators of heritable mutagenic effects. For example, there is limited evidence suggesting that paternal exposure to anaesthetic gases may cause miscarriage and congenital abnormalities as a result of induced male germ cell mutations. 104 references.

  12. [Responsible paternity against abortion].

    PubMed

    Vasquez, J A

    1979-03-02

    Family planning programs were implemented in Mexico in 1973; since then the number of family planning acceptors has grown considerably; however, the number of illegal abortions has also been on the increase. Such phenomenon has been noticed in other countries under the same circumstances, notably Korea, India, and Chile. Women in large urban areas tend to abandon family planning programs for lack of specific information and of adequate and specialized attention. In 1977 in the state of Puebla 32.6% of the total number of pregnancies were terminated in abortion, often induced with primitive and unsanitary methods. It is essential to educate young and very young people on the idea of responsible paternity, and to offer them adequate sex education in schools and outside schools. The general physician can play a very important role in advising these people and in spreading the principle of family planning.

  13. [Basic concepts about paternity testing].

    PubMed

    Lagos, Marcela; Poggi, Helena; Mellado, Cecilia

    2011-04-01

    Nowadays, the analysis of genetic markers is a very important and validated tool for the identification of individuals, and for paternity testing. To do so, highly variable regions of the human genome are analyzed, making it possible to obtain the genetic profile of an individual, and to distinguish between different individuals. The methodology used is basically the same all over the world, consisting in the analysis of 13 to 15 markers. To assign biological paternity the child must have inherited the characteristics from the alleged father in each of the genetic markers analyzed. This analysis achieves a certainty higher than with any other test, which is expressed as the probability of paternity. This probability has to be at least 99.9%, but greater probabilities are usually obtained, especially if the mother is included in the analysis. If the characteristics of two or more genetic markers from the alleged father are absent in the child, biological paternity is excluded.

  14. Older paternal age and fresh gene mutation: data on additional disorders.

    PubMed

    Jones, K L; Smith, D W; Harvey, M A; Hall, B D; Quan, L

    1975-01-01

    Older paternal age has previously been documented as a factor in sporadic fresh mutational cases of several autosomal dominant disorders. In this collaborative study, an older mean paternal age has been documented in sporadic cases of at least five additional dominantly inheritable disorders; the basal cell nevus syndrome, the Waardenburg syndrome, the Crouzon syndrome, the oculo-dental-digital sysdrome, and the Treacher-Collins syndrome. It was also found to be a factor in acrodysostosis and progeria, suggesting a fresh mutant gene etiology for these two conditions in which virtually all cases have been sporadic and the mode of genetic etiology has been unknown.

  15. Advancing paternal age and autism.

    PubMed

    Reichenberg, Abraham; Gross, Raz; Weiser, Mark; Bresnahan, Michealine; Silverman, Jeremy; Harlap, Susan; Rabinowitz, Jonathan; Shulman, Cory; Malaspina, Dolores; Lubin, Gad; Knobler, Haim Y; Davidson, Michael; Susser, Ezra

    2006-09-01

    Maternal and paternal ages are associated with neurodevelopmental disorders. To examine the relationship between advancing paternal age at birth of offspring and their risk of autism spectrum disorder (ASD). Historical population-based cohort study. Identification of ASD cases from the Israeli draft board medical registry. We conducted a study of Jewish persons born in Israel during 6 consecutive years. Virtually all men and about three quarters of women in this cohort underwent draft board assessment at age 17 years. Paternal age at birth was obtained for most of the cohort; maternal age was obtained for a smaller subset. We used the smaller subset (n = 132 271) with data on both paternal and maternal age for the primary analysis and the larger subset (n = 318 506) with data on paternal but not maternal age for sensitivity analyses. Information on persons coded as having International Classification of Diseases, 10th Revision ASD was obtained from the registry. The registry identified 110 cases of ASD (incidence, 8.3 cases per 10 000 persons), mainly autism, in the smaller subset with complete parental age data. There was a significant monotonic association between advancing paternal age and risk of ASD. Offspring of men 40 years or older were 5.75 times (95% confidence interval, 2.65-12.46; P<.001) more likely to have ASD compared with offspring of men younger than 30 years, after controlling for year of birth, socioeconomic status, and maternal age. Advancing maternal age showed no association with ASD after adjusting for paternal age. Sensitivity analyses indicated that these findings were not the result of bias due to missing data on maternal age. Advanced paternal age was associated with increased risk of ASD. Possible biological mechanisms include de novo mutations associated with advancing age or alterations in genetic imprinting.

  16. Obesity, paternalism and fairness.

    PubMed

    Kniess, Johannes

    2015-11-01

    Many liberal theories are committed to the promotion of population health, and the principle of non-interference in individual life plans. Public health interventions often bring out a tension between these two values. In this paper, I examine this tension by assessing the justifiability of liberty-restricting policies in the field of obesity prevention. As I want to show, a 'soft' form of paternalism, which interferes with people's choices to safeguard their true interests, goes some way in justifying such policies, but it leaves unaddressed the problem of limiting the liberty of those whose true interest is in pursuing an unhealthy lifestyle. I argue that in this latter case, the key to reconcile the promotion of population health with the respect for individual liberty is distributive justice: when we cannot help those who care about their health without doing the same for those who do not, fairness will often require us to do so. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  17. [POST MORTEM PATERNITY].

    PubMed

    Marguénaud, Jean-Pierre

    2015-07-01

    Post mortem paternity, namely the procreation after the death of the man whom is part of the couple, is one of the questions which raised the most hesitations since the first bioethics laws of 1994. The National Assembly, encouraged by several opinions of the CCNE (National advisory committee of ethics) had let itself convince that the transfer had, at least, to be authorized in utero embryos preserved at the regard of which no one could not claim to have rights equal or higher than those of the woman concerned. However, the Senate always ended up obtaining the maintenance of an absolute prohibition of posthumous procreation (starting) from the spermatozoids or frozen embryos. This indifference with the cruelty of the application of the law to the women plunged into mourning--based on a paradoxical appreciation of the interest of the child not to be born orphan, and on a not very glorious taking into account of the interest of the Body of notaries not to change its practices--is particularly debatable. One can, nevertheless, try to understand it according to the obsession of the legalization of surrogate motherhood by application of the principle of nondiscrimination which could justify the requests of the men who, thanks to a surrogate mother, would wish to become fathers starting from gametes or embryos taken or created before the death of their wife or partner.

  18. Differential in vitro phenotype pattern, transforming growth factor-beta(1) activity and mRNA expression of transforming growth factor-beta(1) in Apert osteoblasts.

    PubMed

    Locci, P; Baroni, T; Pezzetti, F; Lilli, C; Marinucci, L; Martinese, D; Becchetti, E; Calvitti, M; Carinci, F

    1999-09-01

    The phenotype of Apert osteoblasts differs from that of normal osteoblasts in the accumulation of macromolecules in the extracellular matrix. Apert osteoblasts increase type I collagen, fibronectin and glycosaminoglycans secretion compared with normal osteoblasts. Because the extracellular matrix macromolecule accumulation is greatly modulated by transforming growth factor-beta(1), we examined the ability of normal and Apert osteoblasts to secrete transforming growth factor-beta(1) by CCL-64 assay and to produce transforming growth factor-beta(1 )by analysis of the mRNA expression of transforming growth factor-beta(1). Northern blot analysis revealed an increased amount of transforming growth factor-beta(1) mRNA expression in Apert osteoblasts compared with normal ones. Moreover, the level of the active transforming growth factor-beta(1) isoform was higher in Apert than in normal media. In pathologic cells, the increase in transforming growth factor-beta(1) gene expression was associated with a parallel increase in the factor secreted into the medium. The level of transforming growth factor-beta(1) was decreased by the addition of basic fibroblast growth factor. Transforming growth factor-beta(1) is controlled temporally and spatially during skeletal tissue development and produces complex stimulatory and inhibitory changes in osteoblast functions. We hypothesise that in vitro differences between normal and Apert osteoblasts may be correlated to different transforming growth factor-beta(1) cascade patterns, probably due to an altered balance between transforming growth factor-beta(1) and basic fibroblast growth factor.

  19. Increasing paternal responsibility.

    PubMed

    Cutright, P

    1985-01-01

    Increasing numbers of fathers of children born out of wedlock are not contributing to these children's economic support. In 1981, a tiny minority (14%) of the 1.7 million never-married mothers living with a child with an absent father had a child-support award, and of these, just 112,000 actually received some payment in 1981. The high rates of noncompliance, and the low level of legal efforts to enforce child support, are the result of attempts to collect payments through inefficient traditional methods, not the inability of fathers to pay, a Wisconsin study has shown. A basic problem with collecting child support under the present system is that it relies on fathers to control their expenditures and voluntarily to send the payment on a weekly, biweekly or monthly basis, year after year. As a Wisconsin study shows, full compliance with court-ordered payments dropped from 38% in the 1st year to below 20% by the 5th year among 163 ex-husbands tracked. A proposal by researchers at the University of Wisconsin's Institute for Research on Poverty calls for an "absent-parent tax." The Wisconsin Plan, as it is known, is simply a withholding tax based on the father's gross income and the number of his absent children. If his income falls below a certain level, payments will stop automatically, but will resume if and when it rises above the cutoff point. The Wisconsin plan removes all judicial discretion and lawyer's skill as factors in child-support awards, thus eliminating erratic awards. It also insures that support payments will be maintained during periods of conflict between the father and mother. However, before the Wisconsin Plan can effectively protect children both out of wedlock, a feature needs to be added that will establish paternity at birth. Imposing a real child-support obligation on fathers of children born outside of marriage will introduce a potentially powerful economic incentive for responsible male reproductive and parental behavior.

  20. Developing Autonomy and Transitional Paternalism.

    PubMed

    Tucker, Faye

    2016-11-01

    Adolescents, in many jurisdictions, have the power to consent to life saving treatment but not necessarily the power to refuse it. A recent defence of this asymmetry is Neil Manson's theory of 'transitional paternalism'. Transitional paternalism holds that such asymmetries are by-products of sharing normative powers. However, sharing normative powers by itself does not entail an asymmetry because transitional paternalism can be implemented in two ways. Manson defends the asymmetry-generating version of transitional paternalism in the clinical context, arguing that it maximizes respect for adolescent autonomy. This article offers an alternative argument in favour of the asymmetry-generating form of transitional paternalism, one that makes appeal to obligations that individuals have to develop self-governance in others. We should share normative powers asymmetrically in the clinical context for three reasons. First, the asymmetric version of transitional paternalism takes seriously duties to support adolescents' developing autonomy, alongside other duties that adults have to young people. It does so by enabling young people to be involved in important decisions that they would otherwise be excluded from. This is of value because participation of this sort is central to the cultivation of their self-governance. Second, only the asymmetric version gives young people a voice in respect of all clinical actions, and only the asymmetric version leaves open the possibility that the coarse lines of legislation might be 'fine-tuned' in individual cases. Third, the asymmetric sharing of normative powers is consistent with the kind of social arrangements that best support autonomy. © 2016 John Wiley & Sons Ltd.

  1. Quantitative indices in paternity cases.

    PubMed

    Lenhartová, E; Lenhart, K; Bártová, A

    1992-01-01

    The study discusses the basic quantitative indices used as a standard method in foreign professional literature dealing with paternity cases. They are as follows: 1. mean probability of exclusion (PE) which characterizes the informative value of the experts opinions and is the same in all the disputes evaluated by this expert. 2. relative frequency of men chosen at random from the population and excluded at given phenotype of mother and child (RME). 3. probability of paternity (PP) for particular trio: mother-child-the accused man. Hereinafter the results of our studies in the HLA laboratory in Olomouc from 1976-1991 are introduced.

  2. Paternal Effectiveness in a Selected Cognitive Task.

    ERIC Educational Resources Information Center

    Acuff, Nancy Hamblen

    The immediate effectiveness of paternal instruction in a selected cognitive task was investigated. The sub-problems were (1) to compare paternal and maternal instruction, and (2) to analyze paternal instructional effectiveness with the son or the daughter. The cognitive task selected was the Goodenough-Harris Draw-A-Man Test. Subjects were 42…

  3. [Extrapair paternity in Parus major].

    PubMed

    Yin, Li-Xian; Zhang, Lei; Chang, Peng; Li, Jing; Wan, Dong-Mei

    2013-02-01

    Mating systems, as an evolutionary stable strategy, play an important role in animal reproductive process and result from an animal's adaption to their environment, including their inter-specific environment. In the 1980s, extrapair paternity (EPP) was first noted in the eurychoric species, the Great Tit, Parus major. As earlier studies indicated, morphology, physiology, behavior, ecological characteristics and mating systems of eurychoric species differ greatly between areas or populations. Accordingly, we analyzed the mating system of the Great Tit (P.m.minor) in Fairy Cave National Nature Reserve, Liaoning, China. We collected total parent-offspring blood samples from 22 broods. We used 8 hypervariable loci, which were selected from 11 reported microsatellite loci for paternity test. In conjunction with the known genetic pattern of the female parent, the accuracy of the paternity testing reached 99.98% with this genetic data. Results of paternity testing showed that 7 of 22 broods (31.8%) had extra-pair nestling, with 16 of 197 nestlings (8.12%) a result of extra-pair fertilizations. The EPP rate of the Great Tit we noted in Liaoning is obviously lower than those in other passerine forest birds (less than 10%). Though between 55.6% and 9.1% extrapair offspring were found among the different nests, we were, however, unable to find any explanatory rule.

  4. Religion, Convention, and Paternal Involvement.

    ERIC Educational Resources Information Center

    Wilcox, W. Bradford

    2002-01-01

    Examines the influence of religious affiliation and attendance on the involvement of residential fathers in one-on-one activities, dinner with their families, and youth activities and found religious effects for each of these three measures. The study indicates that religion is related to paternal involvement in all three areas that were examined.…

  5. Why Do Cuckolded Males Provide Paternal Care?

    PubMed Central

    Griffin, Ashleigh S.; Alonzo, Suzanne H.; Cornwallis, Charlie K.

    2013-01-01

    In most species, males do not abandon offspring or reduce paternal care when they are cuckolded by other males. This apparent lack of adjustment of paternal investment with the likelihood of paternity presents a potential challenge to our understanding of what drives selection for paternal care. In a comparative analysis across birds, fish, mammals, and insects we identify key factors that explain why cuckolded males in many species do not reduce paternal care. Specifically, we show that cuckolded males only reduce paternal investment if both the costs of caring are relatively high and there is a high risk of cuckoldry. Under these circumstances, selection is expected to favour males that reduce paternal effort in response to cuckoldry. In many species, however, these conditions are not satisfied and tolerant males have outcompeted males that abandon young. PMID:23555193

  6. Syndromes with supernumerary teeth.

    PubMed

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  7. Motherless case in paternity testing.

    PubMed

    Lee, H S; Lee, J W; Han, G R; Hwang, J J

    2000-11-13

    In paternity test using the DNA evidence, the analysis of the deficient case that the DNA profiles of mother or alleged father are not available is different from that of the trio case analyzed routinely. However, the motherless case that the genotypes of mother is not available has been requested and analyzed like the trio case. In this paper, we compared the motherless case and the trio case through the mean exclusion chance describing the probability of exclusion for a genetic marker system and the distribution of the probability of paternity calculated using the three current methods. We have also shown a case which can be falsely discriminated if it were requested in the analysis of the motherless case, and conclude that the analysis of the motherless case should be carefully conducted and the level for the discrimination should be different from that of the trio case.

  8. Reconsidering paternalism in clinical research.

    PubMed

    Jansen, Lynn A; Wall, Steven

    2017-08-30

    The ethical standards that regulate clinical research have multiple rationales. Among them is the need to protect potential subjects from making imprudent decisions, which extends beyond the soft paternalistic concern to protect people from making uninformed decisions to participate in trials. This article argues that a plausible risk/benefit restriction on clinical trials is presumptively justified by hard paternalism, which in turn is supported by a deeper fairness-based rationale. This presumptive case for hard paternalism in research is not defeated by the alleged right to participate in clinical trials, by concerns about insult or status, by the need to conduct early phase trials that promise little to no benefit to participants, or by the recognition that some potential subjects are altruistically motivated. © 2017 John Wiley & Sons Ltd.

  9. Wilms' tumor and paternal occupation

    SciTech Connect

    Olshan, A.F.; Breslow, N.E.; Daling, J.R.; Falletta, J.M.; Grufferman, S.; Robison, L.L.; Waskerwitz, M.; Hammond, G.D. )

    1990-06-01

    A case-control study was conducted to examine the relationship between Wilms' tumor and paternal occupational exposures. The case group consisted of 200 children diagnosed as having Wilms' tumor who were registered at selected National Wilms' Tumor Study institutions during the period June 1, 1984, to May 31, 1986. Disease-free controls were matched to each case using a random digit dialing procedure. The parents of cases and controls completed a self-administered questionnaire. There was no consistent pattern of increased risk for paternal occupational exposure to hydrocarbons or lead found in this study. However, certain paternal occupations were found to have an elevated odds ratio (OR) of Wilms' tumor, including vehicle mechanics, auto body repairmen, and welders. Offspring of fathers who were auto mechanics had a 4- to 7-fold increased risk of Wilms' tumor for all 3 time periods. The largest increased odds ratio for auto mechanics was in the preconception period (OR = 7.58; 95% confidence interval (CI) = 0.90-63.9). Welders had a 4- to 8-fold increased odds ratio, with the strongest association during pregnancy (OR = 8.22; CI = 0.95-71.3). Although chance cannot be excluded as a possible explanation, association of Wilms' tumor with these occupations has been reported in previous studies. Further study is needed to provide data on the specific occupational exposures involved.

  10. Colony size is linked to paternity frequency and paternity skew in yellowjacket wasps and hornets.

    PubMed

    Loope, Kevin J; Chien, Chun; Juhl, Michael

    2014-12-30

    The puzzle of the selective benefits of multiple mating and multiple paternity in social insects has been a major focus of research in evolutionary biology. We examine paternity in a clade of social insects, the vespine wasps (the yellowjackets and hornets), which contains species with high multiple paternity as well as species with single paternity. This group is particularly useful for comparative analyses given the wide interspecific variation in paternity traits despite similar sociobiology and ecology of the species in the genera Vespula, Dolichovespula and Vespa. We describe the paternity of 5 species of yellowjackets (Vespula spp.) and we perform a phylogenetically controlled comparative analysis of relatedness, paternity frequency, paternity skew, colony size, and nest site across 22 vespine taxa. We found moderate multiple paternity in four small-colony Vespula rufa-group species (effective paternity 1.5 - 2.1), and higher multiple paternity in the large-colony Vespula flavopilosa (effective paternity ~3.1). Our comparative analysis shows that colony size, but not nest site, predicts average intracolony relatedness. Underlying this pattern, we found that greater colony size is associated with both higher paternity frequency and reduced paternity skew. Our results support hypotheses focusing on the enhancement of genetic diversity in species with large colonies, and run counter to the hypothesis that multiple paternity is adaptively maintained due to sperm limitation associated with large colonies. We confirm the patterns observed in taxonomically widespread analyses by comparing closely related species of wasps with similar ecology, behavior and social organization. The vespine wasps may be a useful group for experimental investigation of the benefits of multiple paternity in the future.

  11. Risk Factors for Paternal Physical Child Abuse

    ERIC Educational Resources Information Center

    Lee, Shawna J.; Guterman, Neil B.; Lee, Yookyong

    2008-01-01

    Objective: This study uses the developmental-ecological framework to examine a comprehensive set of paternal factors hypothesized to be linked to risk for paternal child abuse (PCA) among a diverse sample of fathers. Attention was given to fathers' marital status and their race/ethnicity (White, African American, and Hispanic). Methods: Interviews…

  12. Paternal inheritance in mealybugs (Hemiptera: Coccoidea: Pseudococcidae)

    NASA Astrophysics Data System (ADS)

    Kol-Maimon, Hofit; Mendel, Zvi; Franco, José Carlos; Ghanim, Murad

    2014-10-01

    Mealybugs have a haplodiploid reproduction system, with paternal genome elimination (PGE); the males are diploid soon after fertilization, but during embryogenesis, the male paternal set of chromosomes becomes heterochromatic (HC) and therefore inactive. Previous studies have suggested that paternal genes can be passed on from mealybug males to their sons, but not necessarily by any son, to the next generation. We employed crosses between two mealybug species— Planococcus ficus (Signoret) and Planococcus citri (Risso)—and between two populations of P. ficus, which differ in their mode of pheromone attraction, in order to demonstrate paternal inheritance from males to F2 through F1 male hybrids. Two traits were monitored through three generations: mode of male pheromone attraction (pherotype) and sequences of the internal transcribed spacer 2 (ITS2) gene segment (genotype). Our results demonstrate that paternal inheritance in mealybugs can occur from males to their F2 offspring, through F1 males (paternal line). F2 backcrossed hybrid males expressed paternal pherotypes and ITS2 genotypes although their mother originated through a maternal population. Further results revealed other, hitherto unknown, aspects of inheritance in mealybugs, such as that hybridization between the two species caused absence of paternal traits in F2 hybrid females produced by F1 hybrid females. Furthermore, hybridization between the two species raised the question of whether unattracted males have any role in the interactions between P. ficus and P. citri.

  13. Epigenetics and the origins of paternal effects.

    PubMed

    Curley, James P; Mashoodh, Rahia; Champagne, Frances A

    2011-03-01

    Though there are multiple routes through which parents can influence their offspring, recent studies of environmentally induced epigenetic variation have highlighted the role of non-genomic pathways. In addition to the experience-dependent modification of DNA methylation that can be achieved via mother-infant interactions, there has been increasing interest in the epigenetic mechanisms through which paternal influences on offspring development can be achieved. Epidemiological and laboratory studies suggest that paternal nutritional and toxicological exposures as well as paternal age and phenotypic variation can lead to variations in offspring and, in some cases, grand-offspring development. These findings suggest a potential epigenetic germline inheritance of paternal effects. However, it may be important to consider the interplay between maternal and paternal influences as well as the experimental dissociation between experience-dependent and germline transmission when exploring the role of epigenetic variation within the germline as a mediator of these effects. In this review, we will explore these issues, with a particular focus on the potential role of paternally induced maternal investment, highlight the literature illustrating the transgenerational impact of paternal experiences, and discuss the evidence supporting the role of epigenetic mechanisms in maintaining paternal effects both within and across generations. Copyright © 2010 Elsevier Inc. All rights reserved.

  14. Paternal inheritance in mealybugs (Hemiptera: Coccoidea: Pseudococcidae).

    PubMed

    Kol-Maimon, Hofit; Mendel, Zvi; Franco, José Carlos; Ghanim, Murad

    2014-10-01

    Mealybugs have a haplodiploid reproduction system, with paternal genome elimination (PGE); the males are diploid soon after fertilization, but during embryogenesis, the male paternal set of chromosomes becomes heterochromatic (HC) and therefore inactive. Previous studies have suggested that paternal genes can be passed on from mealybug males to their sons, but not necessarily by any son, to the next generation. We employed crosses between two mealybug species--Planococcus ficus (Signoret) and Planococcus citri (Risso)--and between two populations of P. ficus, which differ in their mode of pheromone attraction, in order to demonstrate paternal inheritance from males to F2 through F1 male hybrids. Two traits were monitored through three generations: mode of male pheromone attraction (pherotype) and sequences of the internal transcribed spacer 2 (ITS2) gene segment (genotype). Our results demonstrate that paternal inheritance in mealybugs can occur from males to their F2 offspring, through F1 males (paternal line). F2 backcrossed hybrid males expressed paternal pherotypes and ITS2 genotypes although their mother originated through a maternal population. Further results revealed other, hitherto unknown, aspects of inheritance in mealybugs, such as that hybridization between the two species caused absence of paternal traits in F2 hybrid females produced by F1 hybrid females. Furthermore, hybridization between the two species raised the question of whether unattracted males have any role in the interactions between P. ficus and P. citri.

  15. 32 CFR 584.3 - Paternity claims.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    .... (iv) Advise the soldier that a court order against him on the paternity claim, followed by a refusal... taken on the claim of paternity in the absence of a court order. The court order must identify the soldier in question as the father of the child. Also, the court order must direct that the soldier provide...

  16. 32 CFR 584.3 - Paternity claims.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    .... (iv) Advise the soldier that a court order against him on the paternity claim, followed by a refusal... taken on the claim of paternity in the absence of a court order. The court order must identify the soldier in question as the father of the child. Also, the court order must direct that the soldier provide...

  17. Estimating mutation rates from paternity casework.

    PubMed

    Vicard, P; Dawid, A P; Mortera, J; Lauritzen, S L

    2008-01-01

    We present a statistical methodology for making inferences about mutation rates from paternity casework. This takes account of a number of sources of potential bias, including hidden mutation, incomplete family triplets, uncertain paternity status and differing maternal and paternal mutation rates, while allowing a wide variety of mutation models. An object-oriented Bayesian network is used to facilitate computation of the likelihood function for the mutation parameters. This can process either full or summary genotypic information, both from complete putative father-mother-child triplets and from defective cases where only the child and one of its parents are observed. We use a dataset from paternity casework to illustrate the effects on inferences about mutation parameters of various types of biases and the mutation model assumed. In particular, we show that there can be relevant information in cases of unconfirmed paternity, and that excluding these, as has generally been done, can lead to biased conclusions.

  18. Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes.

    PubMed

    Tao, You-Chen; Slavotinek, Anne M; Vargervik, Karin; Oberoi, Snehlata

    2010-05-01

    The authors report a new case of Beare-Stevenson syndrome (BSS) characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, ear defects, a prominent umbilical stump, and midface hypoplasia. The patient had dental findings of natal teeth and hypodontia of the primary and permanent teeth. This is the second patient with BSS syndrome to be reported with hypodontia and natal teeth; the first patient was described by Beare in 1969. The authors review the current literature to investigate the relationship between dental anomalies and fibroblast growth factor receptor-related mutations in BSS and other craniosynostosis syndromes such as Apert, Crouzon, and Pfeiffer.

  19. A self-consistent approach to paternity and parental effort.

    PubMed Central

    Houston, Alasdair I; McNamara, John M

    2002-01-01

    We review the relationship between optimal parental effort and paternity, and emphasize the need for a self-consistent approach. A fundamental consistency condition is what we refer to as the conservation of paternity. Every offspring has exactly one father. If a male has a paternity of less than unity, then another male or other males must have gained the lost paternity. Our approach also emphasizes that paternity emerges as the result of interactions between males and females. From this viewpoint, if paternity changes it is because some aspect of the interaction changes, and the correlation between effort and paternity depends on the aspect that has changed. This has implications for comparative analyses of paternity. The conclusions that are drawn about the correlation between effort and paternity within a population depend on, for example, the types of male in the population and how their abilities are correlated. It is easy to construct models that predict negative correlations between effort and paternity. PMID:11958703

  20. Paternal age and mental health of offspring

    PubMed Central

    Malaspina, Dolores; Gilman, Caitlin; Kranz, Thorsten Manfred

    2015-01-01

    The influence of paternal age on the risk for sporadic forms of Mendelian disorders is well known, but a burgeoning recent literature also demonstrates a paternal age effect for complex neuropsychiatric conditions, including schizophrenia, autism, bipolar disorder and even for learning potential, expressed as intelligence. Mental illness is costly to the patients, the family and the public health system, accounting for the largest portion of disability costs in our economy. The delayed onset of neuropsychiatric conditions and lack of physical manifestations at birth are common frequencies in the population that have obscured the recognition that a portion of the risks for mental conditions is associated with paternal age. Identification of these risk pathways may be leveraged for knowledge about mental function and for future screening tests. However, only a small minority of at-risk offspring are likely to have such a psychiatric or learning disorder attributable to paternal age, including the children of older fathers. PMID:25956369

  1. Avian paternal care had dinosaur origin.

    PubMed

    Varricchio, David J; Moore, Jason R; Erickson, Gregory M; Norell, Mark A; Jackson, Frankie D; Borkowski, John J

    2008-12-19

    The repeated discovery of adult dinosaurs in close association with egg clutches leads to speculation over the type and extent of care exhibited by these extinct animals for their eggs and young. To assess parental care in Cretaceous troodontid and oviraptorid dinosaurs, we examined clutch volume and the bone histology of brooding adults. In comparison to four archosaur care regressions, the relatively large clutch volumes of Troodon, Oviraptor, and Citipati scale most closely with a bird-paternal care model. Clutch-associated adults lack the maternal and reproductively associated histologic features common to extant archosaurs. Large clutch volumes and a suite of reproductive features shared only with birds favor paternal care, possibly within a polygamous mating system. Paternal care in both troodontids and oviraptorids indicates that this care system evolved before the emergence of birds and represents birds' ancestral condition. In extant birds and over most adult sizes, paternal and biparental care correspond to the largest and smallest relative clutch volumes, respectively.

  2. Pectoral fins and paternal quality in sticklebacks.

    PubMed Central

    Künzler, R; Bakker, T C

    2000-01-01

    Sexual selection through female mate choice exerts a strong selection pressure on males' sexual traits, particularly when direct benefits are involved. In species with male parental care, one would expect sexual selection to favour paternal quality, for instance through selection on morphological structures which promote quality. We experimentally studied the influence of pectoral fins on paternal quality in male three-spined sticklebacks (Gasterosteus aculeatus L.). After reductions of fin area to different degrees, similar-sized males had to perform a complete reproductive cycle in enclosures in the field. The collected data on fanning behaviour and egg development showed that a reduction in pectoral fin size affected paternal quality probably through an increased beat frequency of the pectorals. Thus, pectoral fins can potentially signal paternal quality to choosy females. PMID:10874749

  3. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

    PubMed

    Feuk, Lars; Kalervo, Aino; Lipsanen-Nyman, Marita; Skaug, Jennifer; Nakabayashi, Kazuhiko; Finucane, Brenda; Hartung, Danielle; Innes, Micheil; Kerem, Batsheva; Nowaczyk, Malgorzata J; Rivlin, Joseph; Roberts, Wendy; Senman, Lili; Summers, Anne; Szatmari, Peter; Wong, Virginia; Vincent, John B; Zeesman, Susan; Osborne, Lucy R; Cardy, Janis Oram; Kere, Juha; Scherer, Stephen W; Hannula-Jouppi, Katariina

    2006-11-01

    Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases have been described. We characterize 13 patients with DVD--5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting FOXP2, and the remaining 7 with maternal uniparental disomy of chromosome 7 (UPD7), who were also given a diagnosis of Silver-Russell Syndrome (SRS). Of these individuals with DVD, all 12 for whom parental DNA was available showed absence of a paternal copy of FOXP2. Five other individuals with deletions of paternally inherited FOXP2 but with incomplete clinical information or phenotypes too complex to properly assess are also described. Four of the patients with DVD also meet criteria for autism spectrum disorder. Individuals with paternal UPD7 or with partial maternal UPD7 or deletion starting downstream of FOXP2 do not have DVD. Using quantitative real-time polymerase chain reaction, we show the maternally inherited FOXP2 to be comparatively underexpressed. Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7. The data also point to a role for differential parent-of-origin expression of FOXP2 in human speech development.

  4. Paternity and inheritance of wealth

    NASA Astrophysics Data System (ADS)

    Hartung, John

    1981-06-01

    One of the oldest conjectures in anthropology is that men transfer wealth to their sister's son when the biological paternity of their `own' children is in doubt1-12. Because maternity is certain, a man is necessarily related to his sister's son and his brother (see Fig. 1). It is argued here that relatedness to male heirs can be assured by passing wealth to sister's sons or down a line of brothers, whether the prevailing kinship system reckons those brothers matrilineally or patrilineally. It is also argued that when several transfers of wealth are considered, a man's likelihood of being cuckolded need not be unrealistically high13 for his successive matrilineal heirs to be more related to him than his successive patrilineal heirs (see Fig. 2). Cross-cultural data on sister's son/brother inheritance14 and frequency of extramarital sex for females15 support the hypothesis that men tend to transmit wealth to their sister's son and/or brother when the probability that their putative children are their genetic children is relatively low.

  5. Genetic Syndromes Associated with Craniosynostosis

    PubMed Central

    2016-01-01

    Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis. PMID:27226847

  6. Paternal Psychiatric Symptoms and Maladaptive Paternal Behavior in the Home during the Child Rearing Years

    ERIC Educational Resources Information Center

    Johnson, Jeffrey G.; Cohen, Patricia; Kasen, Stephanie; Brook, Judith S.

    2004-01-01

    Data from the Children in the Community Study, a community-based longitudinal study were used to investigate associations between paternal psychiatric disorders and child-rearing behaviors. Paternal psychiatric symptoms and behavior in the home were assessed among 782 families during the childhood and adolescence of the offspring. Paternal…

  7. Paternal epigenetic programming: evolving metabolic disease risk.

    PubMed

    Hur, Suzy S J; Cropley, Jennifer E; Suter, Catherine M

    2017-04-01

    Parental health or exposures can affect the lifetime health outcomes of offspring, independently of inherited genotypes. Such 'epigenetic' effects occur over a broad range of environmental stressors, including defects in parental metabolism. Although maternal metabolic effects are well documented, it has only recently been established that that there is also an independent paternal contribution to long-term metabolic health. Both paternal undernutrition and overnutrition can induce metabolic phenotypes in immediate offspring, and in some cases, the induced phenotype can affect multiple generations, implying inheritance of an acquired trait. The male lineage transmission of metabolic disease risk in these cases implicates a heritable factor carried by sperm. Sperm-based transmission provides a tractable system to interrogate heritable epigenetic factors influencing metabolism, and as detailed here, animal models of paternal programming have already provided some significant insights. Here, we review the evidence for paternal programming of metabolism in humans and animal models, and the available evidence on potential underlying mechanisms. Programming by paternal metabolism can be observed in multiple species across animal phyla, suggesting that this phenomenon may have a unique evolutionary significance.

  8. Paternal history of diabetes mellitus and hypertension affects the prevalence and phenotype of PCOS.

    PubMed

    Cheng, Chen; Zhang, Haolin; Zhao, Yue; Li, Rong; Qiao, Jie

    2015-12-01

    The purpose of the present study is to determine if paternal or maternal history of diabetes mellitus (DM) and hypertension (HT) contributes to the prevalence and phenotype of polycystic ovary syndrome (PCOS). We performed an epidemiologic study about PCOS from four districts in Beijing, China, between 2008 and 2009. Parental histories of DM and HT were collected, and the basic characteristics and serum indices of 123 PCOS patients and 718 non-PCOS controls were tested. The prevalence of a parental history of DM and HT was significantly higher in PCOS patients than non-PCOS women (17.1 % vs. 9.2 % and 42.3 % vs. 26.0 %, P < 0.05, respectively). When paternal history was separated from maternal history, only a paternal history of DM and HT reached statistical significance between PCOS and non-PCOS patients (odds ratio (OR) = 3.42, 95 % confidence interval (CI) = 1.69-6.91; OR = 2.50, 95 % CI = 1.58-3.93, respectively). A paternal history of both DM and HT was significantly associated with sex hormone-binding globulin, fasting plasma glucose, and fasting insulin levels, the free androgen index, and the homeostatic model assessment-insulin resistance in PCOS patients (P < 0.05 for all). There was no independent association between maternal history and the clinical or biochemical phenotype of PCOS. PCOS patients with a positive paternal history of both DM and HT have an adverse endocrine and metabolic profile. A paternal history of DM and HT poses a risk to PCOS.

  9. Medical paternalism in House M.D.

    PubMed

    Wicclair, M R

    2008-12-01

    The popular television series House M.D. is drawn upon to provide a critical examination of medical paternalism and how it is presented in the show. Dr Gregory House, the character named in the title of the series, is a paradigm of a paternalistic physician. He believes that he knows what is best for his patients, and he repeatedly disregards their wishes in order to diagnose and treat their illnesses. This paper examines several examples of medical paternalism and the means used to portray it favourably in the series. It is argued that the positive depiction of medical paternalism in the fictional world of the series does not apply in the real world. The paper also considers why a show that features a paternalistic physician who so blatantly flouts mainstream medical ethics might appeal to health professionals and members of the general public.

  10. Single paternity of clutches in American Woodcock

    USGS Publications Warehouse

    Ziel, H.; McAuley, D.G.; Rhymer, J.M.

    2000-01-01

    Based on behavioral observations, the mating system of American Woodcock has been variously described as monogamous, a dispersed lek, or resource defense polygyny. Males perform elaborate mating displays that attract females to their display sites where copulations occur. We used microsatellite markers, developed for Ruffs (Philomachus pugnax), to assess paternity in American Woodcock. In 3 yr, we collected blood samples from 21 females and broods and 90 males. We found no evidence of multiple paternity within broods; paternity in all broods could be explained by 1 father. For 8 broods, we were able to infer probable fathers from males we sampled in the field. All 8 broods were found close to the singing site of the male or males that matched as possible fathers. Two males may have fathered 2 broods each, suggesting that polygyny may be a component of the woodcock mating system.

  11. 45 CFR 303.5 - Establishment of paternity.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... paternity in any case involving incest or forcible rape, or in any case in which legal proceedings for... determination of good cause for refusal to cooperate under section 454(29) of the Act. (2) A contested paternity...

  12. 45 CFR 303.5 - Establishment of paternity.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... paternity in any case involving incest or forcible rape, or in any case in which legal proceedings for... determination of good cause for refusal to cooperate under section 454(29) of the Act. (2) A contested paternity...

  13. 45 CFR 303.5 - Establishment of paternity.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... paternity in any case involving incest or forcible rape, or in any case in which legal proceedings for... determination of good cause for refusal to cooperate under section 454(29) of the Act. (2) A contested paternity...

  14. Paternally expressed genes predominate in the placenta.

    PubMed

    Wang, Xu; Miller, Donald C; Harman, Rebecca; Antczak, Douglas F; Clark, Andrew G

    2013-06-25

    The discovery of genomic imprinting through studies of manipulated mouse embryos indicated that the paternal genome has a major influence on placental development. However, previous research has not demonstrated paternal bias in imprinted genes. We applied RNA sequencing to trophoblast tissue from reciprocal hybrids of horse and donkey, where genotypic differences allowed parent-of-origin identification of most expressed genes. Using this approach, we identified a core group of 15 ancient imprinted genes, of which 10 were paternally expressed. An additional 78 candidate imprinted genes identified by RNA sequencing also showed paternal bias. Pyrosequencing was used to confirm the imprinting status of six of the genes, including the insulin receptor (INSR), which may play a role in growth regulation with its reciprocally imprinted ligand, histone acetyltransferase-1 (HAT1), a gene involved in chromatin modification, and lymphocyte antigen 6 complex, locus G6C, a newly identified imprinted gene in the major histocompatibility complex. The 78 candidate imprinted genes displayed parent-of-origin expression bias in placenta but not fetus, and most showed less than 100% silencing of the imprinted allele. Some displayed variability in imprinting status among individuals. This variability results in a unique epigenetic signature for each placenta that contributes to variation in the intrauterine environment and thus presents the opportunity for natural selection to operate on parent-of-origin differential regulation. Taken together, these features highlight the plasticity of imprinting in mammals and the central importance of the placenta as a target tissue for genomic imprinting.

  15. Paternal inheritance of mitochondria in Chlamydomonas.

    PubMed

    Nakamura, Soichi

    2010-03-01

    To analyze mitochondrial DNA (mtDNA)inheritance, differences in mtDNA between Chlamydomonas reinhardtii and Chlamydomonas smithii, respiration deficiency and antibiotic resistance were used to distinguish mtDNA origins. The analyses indicated paternal inheritance. However, these experiments raised questions regarding whether paternal inheritance occurred normally.Mitochondrial nucleoids were observed in living zygotes from mating until 3 days after mating and then until progeny formation. However, selective disappearance of nucleoids was not observed. Subsequently, experimental serial backcrosses between the two strains demonstrated strict paternal inheritance. The fate of mt+ and mt- mtDNA was followed using the differences in mtDNA between the two strains. The slow elimination of mt+ mtDNA through zygote maturation in darkness was observed, and later the disappearance of mt+ mtDNA was observed at the beginning of meiosis. To explain the different fates of mtDNA, methylation status was investigated; however, no methylation was detected. Variously constructed diploid cells showed biparental inheritance. Thus, when the mating process occurs normally, paternal inheritance occurs. Mutations disrupting mtDNA inheritance have not yet been isolated. Mutations that disrupt maternal inheritance of chloroplast DNA (cpDNA) do not disrupt inheritance of mtDNA. The genes responsible for mtDNA inheritance are different from those of chloroplasts.

  16. Daddy issues: paternal effects on phenotype.

    PubMed

    Rando, Oliver J

    2012-11-09

    The once popular and then heretical idea that ancestral environment can affect the phenotype of future generations is coming back into vogue due to advances in the field of epigenetic inheritance. How paternal environmental conditions influence the phenotype of progeny is now a tractable question, and researchers are exploring potential mechanisms underlying such effects.

  17. Paternity Testing in a PBL Environment

    ERIC Educational Resources Information Center

    Casla, Alberto Vicario; Zubiaga, Isabel Smith

    2010-01-01

    Problem Based Learning (PBL) makes use of real-life scenarios to stimulate students' prior knowledge and to provide a meaningful context that is also related to the student's future professional work. In this article, Paternity testing is presented using a PBL approach that involves a combination of classroom, laboratory, and out-of-class…

  18. Paternal Attachment, Parenting Beliefs and Children's Attachment

    ERIC Educational Resources Information Center

    Howard, Kimberly S.

    2010-01-01

    Relationships between fathers' romantic attachment style, parenting beliefs and father-child attachment security and dependence were examined in a diverse sample of 72 fathers of young children. Paternal romantic attachment style was coded based on fathers' endorsement of a particular style represented in the Hazan and Shaver Three-Category…

  19. Paternity Testing in a PBL Environment

    ERIC Educational Resources Information Center

    Casla, Alberto Vicario; Zubiaga, Isabel Smith

    2010-01-01

    Problem Based Learning (PBL) makes use of real-life scenarios to stimulate students' prior knowledge and to provide a meaningful context that is also related to the student's future professional work. In this article, Paternity testing is presented using a PBL approach that involves a combination of classroom, laboratory, and out-of-class…

  20. Paternal Attachment, Parenting Beliefs and Children's Attachment

    ERIC Educational Resources Information Center

    Howard, Kimberly S.

    2010-01-01

    Relationships between fathers' romantic attachment style, parenting beliefs and father-child attachment security and dependence were examined in a diverse sample of 72 fathers of young children. Paternal romantic attachment style was coded based on fathers' endorsement of a particular style represented in the Hazan and Shaver Three-Category…

  1. Blood Group ABO Genotyping in Paternity Testing

    PubMed Central

    Bugert, Peter; Rink, Gabriele; Kemp, Katharina; Klüter, Harald

    2012-01-01

    Background The ABO blood groups result from DNA sequence variations, predominantly single nucleotide and insertion/deletion polymorphisms (SNPs and indels), in the ABO gene encoding a glycosyltransferase. The ABO blood groups A1, A2, B and O predominantly result from the wild type allele A1 and the major gene variants that are characterized by four diallelic markers (261G>del, 802G>A, 803G>C, 1061C>del). Here, we were interested to evaluate the impact of ABO genotyping compared to ABO phenotyping in paternity testing. Methods The major ABO alleles were determined by PCR amplification with sequence-specific primers (PCR-SSP) in a representative sample of 1,335 blood donors. The genotypes were compared to the ABO blood groups registered in the blood donor files. Then, the ABO phenotypes and genotypes were determined in 95 paternity trio cases that have been investigated by 12 short tandem repeat (STR) markers before. We compared statistical parameters (PL, paternity likelihood; PE, power of exclusion) of both blood grouping approaches. Results The prevalence of the major ABO alleles and genotypes corresponded to the expected occurrence of ABO blood groups in a Caucasian population. The low resolution genotyping of 4 diallelic markers revealed a correct genotype-phenotype correlation in 1,331 of 1,335 samples (99.7%). In 60 paternity trios with confirmed paternity of the alleged father based on STR analysis both PL and PE of the ABO genotype was significantly higher than of the ABO phenotype. In 12 of 35 exclusion cases (34.3%) the ABO genotype also excluded the alleged father, whereas the ABO phenotype excluded the alleged father only in 7 cases (20%). Conclusion In paternity testing ABO genotyping is superior to ABO phenotyping with regard to PL and PE, however, ABO genotyping is not sufficient for valid paternity testing. Due to the much lower mutation rate compared to STR markers, blood group SNPs in addition to anonymous SNPs could be considered for future

  2. The effect of paternal age on offspring intelligence and personality when controlling for paternal trait level.

    PubMed

    Arslan, Ruben C; Penke, Lars; Johnson, Wendy; Iacono, William G; McGue, Matt

    2014-01-01

    Paternal age at conception has been found to predict the number of new genetic mutations. We examined the effect of father's age at birth on offspring intelligence, head circumference and personality traits. Using the Minnesota Twin Family Study sample we tested paternal age effects while controlling for parents' trait levels measured with the same precision as offspring's. From evolutionary genetic considerations we predicted a negative effect of paternal age on offspring intelligence, but not on other traits. Controlling for parental intelligence (IQ) had the effect of turning an initially positive association non-significantly negative. We found paternal age effects on offspring IQ and Multidimensional Personality Questionnaire Absorption, but they were not robustly significant, nor replicable with additional covariates. No other noteworthy effects were found. Parents' intelligence and personality correlated with their ages at twin birth, which may have obscured a small negative effect of advanced paternal age (<1% of variance explained) on intelligence. We discuss future avenues for studies of paternal age effects and suggest that stronger research designs are needed to rule out confounding factors involving birth order and the Flynn effect.

  3. Mitochondrial endonuclease G mediates breakdown of paternal mitochondria upon fertilization.

    PubMed

    Zhou, Qinghua; Li, Haimin; Li, Hanzeng; Nakagawa, Akihisa; Lin, Jason L J; Lee, Eui-Seung; Harry, Brian L; Skeen-Gaar, Riley Robert; Suehiro, Yuji; William, Donna; Mitani, Shohei; Yuan, Hanna S; Kang, Byung-Ho; Xue, Ding

    2016-07-22

    Mitochondria are inherited maternally in most animals, but the mechanisms of selective paternal mitochondrial elimination (PME) are unknown. While examining fertilization in Caenorhabditis elegans, we observed that paternal mitochondria rapidly lose their inner membrane integrity. CPS-6, a mitochondrial endonuclease G, serves as a paternal mitochondrial factor that is critical for PME. We found that CPS-6 relocates from the intermembrane space of paternal mitochondria to the matrix after fertilization to degrade mitochondrial DNA. It acts with maternal autophagy and proteasome machineries to promote PME. Loss of cps-6 delays breakdown of mitochondrial inner membranes, autophagosome enclosure of paternal mitochondria, and PME. Delayed removal of paternal mitochondria causes increased embryonic lethality, demonstrating that PME is important for normal animal development. Thus, CPS-6 functions as a paternal mitochondrial degradation factor during animal development.

  4. Cleft palate in Pfeiffer syndrome.

    PubMed

    Stoler, Joan M; Rosen, Heather; Desai, Urmen; Mulliken, John B; Meara, John G; Rogers, Gary F

    2009-09-01

    The frequency of associated cleft palate is known to be high in some fibroblast growth factor receptor 2 (FGFR2)-mediated craniosynostosis syndromes, such as Apert syndrome. However, there is little information on the frequency of palatal clefts in the FGFR2-mediated disorder, that is, Pfeiffer syndrome. The purpose of this study was to determine the frequency of palatal clefts in patients with Pfeiffer syndrome. The records of patients with Pfeiffer syndrome managed in our craniofacial unit were reviewed. Only patients with a confirmed diagnosis of Pfeiffer syndrome were included. Diagnostic criteria were as follows: characteristic mutations in FGFR1 or FGFR2 or, in the absence of genetic testing, clinical findings consistent with Pfeiffer syndrome as determined by a clinical geneticist or our most experienced surgeon (J.B.M.). Only 2 clefts were noted in 25 patients (8%), including 1 with a submucous cleft and 1 with an overt palatal cleft. Many patients (87%) were described as having a high-arched and narrow palate, and 1 had a low, broad palate. Nine patients were noted to have choanal atresia or stenosis. Clefting of the palate does occur in Pfeiffer syndrome but at a low frequency.

  5. [Uncommon acne-associated syndromes and their significance in understanding the pathogenesis of acne].

    PubMed

    Hong, J-B; Prucha, H; Melnik, B; Ziai, M; Ring, J; Chen, W

    2013-04-01

    Acne is an intriguing model for the study of interactions between hormones, innate immunity, inflammation and wound healing (scarring). The manifestations and involvement of acne in different systemic diseases and some rare syndromes demonstrate its multifaceted nature. Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis (SAPHO) and Pyogenic Arthritis-Pyoderma gangrenosum-Acne (PAPA) syndromes, both regarded as autoinflammatory diseases, highlight the attributes of inflammation in acne. While SAPHO syndrome can be used to explore the pathogenic role of Propionibacterium acnes in acne, PAPA syndrome and Apert syndrome can help understand the genetic influence on acne. The genetic defects in the gain-of-function of FGFR2 mutations in Apert syndrome and acne nevus of Munro lend further support to the hypothesis that the interaction of forkhead box class O (FoxOs)-mediated transcriptional regulation with androgen receptor transactivation and insulin/insulin like growth factor-1(IGF-1)-signaling is crucial in acne pathogenesis. Novel biologics, such as tumor necrosis factor (TNF) blockers and IL-1 inhibitors, appear promising in opposing the inflammation associated with SAPHO and PAPA syndromes, but it remains to seen if they can also improve severe acne particularly in the long term.

  6. Simultaneous multiple vector distraction for craniosynostosis syndromes.

    PubMed

    Anderson, Peter J; Tan, Eugene; David, David J

    2005-07-01

    Syndromic craniosynostoses are commonly treated conditions in craniofacial units. The features of the common syndromes (Apert, Pfeiffer and Crouzon) all include craniosynostosis, mid-face hypoplasia and ocular proptosis. The craniofacial management of a child with these syndromes through to adulthood may require a number of surgical interventions to allow brain development, to provide an adequate airway, to prevent corneal ulceration and to provide a functional dental occlusion. The management of these different priorities into timed interventions in our unit is determined by established protocols. We report two cases that underwent simultaneous mid-face (Le Fort III) and fronto-orbital osteotomies followed by distraction but using different vectors to advance the upper and mid-face regions (to achieve all treatment goals) in a 12-year-old boy and a 16-year-old girl.

  7. Paternal isodisomy of chromosome 6 in association with a maternal supernumerary marker chromosome (6)

    SciTech Connect

    James, R.S.; Crolla, J.A.; Sitch, F.L.

    1994-09-01

    Uniparental disomy may arise by a number of different mechanisms of aneuploidy correction. A population that has been identified as being at increased risk of aneuploidy are those individuals bearing supernumerary marker chromosomes (SMCs). There have been a number of cases reported of trisomy 21 in association with bi-satellited marker chromosomes have described two individuals with small inv dup (15) markers. One had paternal isodisomy of chromosome 15 and Angelman syndrome. The other had maternal heterodisomy (15) and Prader-Willi syndrome. At the Wessex Regional Genetics Laboratory we have conducted a search for uniparental disomy of the normal homologues of the chromosomes from which SMCs originated. Our study population consists of 39 probands with SMCs originating from a number of different autosomes, including 17 with SMCs of chromosome 15 origin. Using PCR amplification of microsatellite repeat sequences located distal to the regions included in the SMCs we have determined the parental origin of the two normal homologues in each case. We have identified paternal isodisomy of chromosome 6 in a female child with a supernumerary marker ring chromosome 6 in approximately 70% of peripheral blood lymphocytes. The marker was found to be of maternal origin. This is the second case of paternal isodisomy of chromosome 6 to be reported, and the first in association with a SMC resulting in a partial trisomy for a portion of the short arm of chromosome 6. In spite of this, the patient appears to be functioning appropriately for her age.

  8. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.

    PubMed

    Hayward, B E; Moran, V; Strain, L; Bonthron, D T

    1998-12-22

    The GNAS1 gene encodes the alpha subunit of the guanine nucleotide-binding protein Gs, which couples signaling through peptide hormone receptors to cAMP generation. GNAS1 mutations underlie the hormone resistance syndrome pseudohypoparathyroidism type Ia (PHP-Ia), so the maternal inheritance displayed by PHP-Ia has raised suspicions that GNAS1 is imprinted. Despite this suggestion, in most tissues Gsalpha is biallelically encoded. In contrast, the large G protein XLalphas, also encoded by GNAS1, is paternally derived. Because the inheritance of PHP-Ia predicts the existence of maternally, rather than paternally, expressed transcripts, we have investigated the allelic origin of other mRNAs derived from GNAS1. We find this gene to be remarkable in the complexity of its allele-specific regulation. Two upstream promoters, each associated with a large coding exon, lie only 11 kb apart, yet show opposite patterns of allele-specific methylation and monoallelic transcription. The more 5' of these exons encodes the neuroendocrine secretory protein NESP55, which is expressed exclusively from the maternal allele. The NESP55 exon is 11 kb 5' to the paternally expressed XLalphas exon. The transcripts from these two promoters both splice onto GNAS1 exon 2, yet share no coding sequences. Despite their structural unrelatedness, the encoded proteins, of opposite allelic origin, both have been implicated in regulated secretion in neuroendocrine tissues. Remarkably, maternally (NESP55), paternally (XLalphas), and biallelically (Gsalpha) derived proteins all are produced by different patterns of promoter use and alternative splicing of GNAS1, a gene showing simultaneous imprinting in both the paternal and maternal directions.

  9. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins

    PubMed Central

    Hayward, Bruce E.; Moran, Veronica; Strain, Lisa; Bonthron, David T.

    1998-01-01

    The GNAS1 gene encodes the α subunit of the guanine nucleotide-binding protein Gs, which couples signaling through peptide hormone receptors to cAMP generation. GNAS1 mutations underlie the hormone resistance syndrome pseudohypoparathyroidism type Ia (PHP-Ia), so the maternal inheritance displayed by PHP-Ia has raised suspicions that GNAS1 is imprinted. Despite this suggestion, in most tissues Gsα is biallelically encoded. In contrast, the large G protein XLαs, also encoded by GNAS1, is paternally derived. Because the inheritance of PHP-Ia predicts the existence of maternally, rather than paternally, expressed transcripts, we have investigated the allelic origin of other mRNAs derived from GNAS1. We find this gene to be remarkable in the complexity of its allele-specific regulation. Two upstream promoters, each associated with a large coding exon, lie only 11 kb apart, yet show opposite patterns of allele-specific methylation and monoallelic transcription. The more 5′ of these exons encodes the neuroendocrine secretory protein NESP55, which is expressed exclusively from the maternal allele. The NESP55 exon is 11 kb 5′ to the paternally expressed XLαs exon. The transcripts from these two promoters both splice onto GNAS1 exon 2, yet share no coding sequences. Despite their structural unrelatedness, the encoded proteins, of opposite allelic origin, both have been implicated in regulated secretion in neuroendocrine tissues. Remarkably, maternally (NESP55), paternally (XLαs), and biallelically (Gsα) derived proteins all are produced by different patterns of promoter use and alternative splicing of GNAS1, a gene showing simultaneous imprinting in both the paternal and maternal directions. PMID:9860993

  10. Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance.

    PubMed Central

    Hawkins, S A; Nevin, N C; Harding, A E

    1990-01-01

    A female with the Brown-Vialetto-Van Laere syndrome is described. The patient's father, a paternal uncle, and possibly a paternal first cousin had neurosensory deafness and a paternal aunt had clinical symptoms indicative of the syndrome. This family raises the possibility that the disorder is genetically heterogeneous with autosomal recessive and autosomal dominant forms. Alternatively, it could be caused by a mutant gene on the X chromosome. Images PMID:2325091

  11. Advances in understanding paternally transmitted Chromosomal Abnormalities

    SciTech Connect

    Marchetti, F; Sloter, E; Wyrobek, A J

    2001-03-01

    Multicolor FISH has been adapted for detecting the major types of chromosomal abnormalities in human sperm including aneuploidies for clinically-relevant chromosomes, chromosomal aberrations including breaks and rearrangements, and other numerical abnormalities. The various sperm FISH assays have been used to evaluate healthy men, men of advanced age, and men who have received mutagenic cancer therapy. The mouse has also been used as a model to investigate the mechanism of paternally transmitted genetic damage. Sperm FISH for the mouse has been used to detect chromosomally abnormal mouse sperm, while the PAINT/DAPI analysis of mouse zygotes has been used to evaluate the types of chromosomal defects that can be paternally transmitted to the embryo and their effects on embryonic development.

  12. Certainty of paternity and paternal investment in eastern bluebirds and tree swallows.

    PubMed

    Kempenaers; Lanctot; Robertson

    1998-04-01

    Extra-pair paternity is common in many socially monogamous passerine birds with biparental care. Thus, males often invest in offspring to which they are not related. Models of optimal parental investment predict that, under certain assumptions, males should lower their investment in response to reduced certainty of paternity. We attempted to reduce certainty of paternity experimentally in two species, the eastern bluebird, Sialia sialis, and the tree swallow, Tachycineta bicolor, by temporarily removing fertile females on two mornings during egg laying. In both species, experimental males usually attempted to copulate with the female immediately after her reappearance, suggesting that they experienced the absence of their mate as a threat to their paternity. Experimental males copulated at a significantly higher rate than control males. However, contrary to the prediction of the model, experimental males did not invest less than control males in their offspring. There was no difference between experimental and control nests in the proportion of male feeds, male and female feeding rates, nestling growth and nestling condition and size at age 14 days. We argue that females might have restored the males' confidence in paternity after the experiment by soliciting or accepting copulations. Alternatively, males may not reduce their effort, because the fitness costs to their own offspring may outweigh the benefits for the males, at least in populations where females cannot fully compensate for reduced male investment. Copyright 1998 The Association for the Study of Animal Behaviour. Copyright 1998 The Association for the Study of Animal Behaviour.

  13. Certainty of paternity and paternal investment in eastern bluebirds and tree swallows

    USGS Publications Warehouse

    Kempenaers, Bart; Lanctot, Richard B.; Robertson, Raleigh J.

    1998-01-01

    Extra-pair paternity is common in many socially monogamous passerine birds with biparental care. Thus, males often invest in offspring to which they are not related. Models of optimal parental investment predict that, under certain assumptions, males should lower their investment in response to reduced certainty of paternity. We attempted to reduce certainty of paternity experimentally in two species, the eastern bluebird, Sialia sialis, and the tree swallow, Tachycineta bicolor, by temporarily removing fertile females on two mornings during egg laying. In both species, experimental males usually attempted to copulate with the female immediately after her reappearance, suggesting that they experienced the absence of their mate as a threat to their paternity. Experimental males copulated at a significantly higher rate than control males. However, contrary to the prediction of the model, experimental males did not invest less than control males in their offspring. There was no difference between experimental and control nests in the proportion of male feeds, male and female feeding rates, nestling growth and nestling condition and size at age 14 days. We argue that females might have restored the males’ confidence in paternity after the experiment by soliciting or accepting copulations. Alternatively, males may not reduce their effort, because the fitness costs to their own offspring may outweigh the benefits for the males, at least in populations where females cannot fully compensate for reduced male investment.

  14. Shared decision making, paternalism and patient choice.

    PubMed

    Sandman, Lars; Munthe, Christian

    2010-03-01

    In patient centred care, shared decision making is a central feature and widely referred to as a norm for patient centred medical consultation. However, it is far from clear how to distinguish SDM from standard models and ideals for medical decision making, such as paternalism and patient choice, and e.g., whether paternalism and patient choice can involve a greater degree of the sort of sharing involved in SDM and still retain their essential features. In the article, different versions of SDM are explored, versions compatible with paternalism and patient choice as well as versions that go beyond these traditional decision making models. Whenever SDM is discussed or introduced it is of importance to be clear over which of these different versions are being pursued, since they connect to basic values and ideals of health care in different ways. It is further argued that we have reason to pursue versions of SDM involving, what is called, a high level dynamics in medical decision-making. This leaves four alternative models to choose between depending on how we balance between the values of patient best interest, patient autonomy, and an effective decision in terms of patient compliance or adherence: Shared Rational Deliberative Patient Choice, Shared Rational Deliberative Paternalism, Shared Rational Deliberative Joint Decision, and Professionally Driven Best Interest Compromise. In relation to these models it is argued that we ideally should use the Shared Rational Deliberative Joint Decision model. However, when the patient and professional fail to reach consensus we will have reason to pursue the Professionally Driven Best Interest Compromise model since this will best harmonise between the different values at stake: patient best interest, patient autonomy, patient adherence and a continued care relationship.

  15. Religion as a means to assure paternity.

    PubMed

    Strassmann, Beverly I; Kurapati, Nikhil T; Hug, Brendan F; Burke, Erin E; Gillespie, Brenda W; Karafet, Tatiana M; Hammer, Michael F

    2012-06-19

    The sacred texts of five world religions (Buddhism, Christianity, Hinduism, Islam, and Judaism) use similar belief systems to set limits on sexual behavior. We propose that this similarity is a shared cultural solution to a biological problem: namely male uncertainty over the paternity of offspring. Furthermore, we propose the hypothesis that religious practices that more strongly regulate female sexuality should be more successful at promoting paternity certainty. Using genetic data on 1,706 father-son pairs, we tested this hypothesis in a traditional African population in which multiple religions (Islam, Christianity, and indigenous) coexist in the same families and villages. We show that the indigenous religion enables males to achieve a significantly (P = 0.019) lower probability of cuckoldry (1.3% versus 2.9%) by enforcing the honest signaling of menstruation, but that all three religions share tenets aimed at the avoidance of extrapair copulation. Our findings provide evidence for high paternity certainty in a traditional African population, and they shed light on the reproductive agendas that underlie religious patriarchy.

  16. Religion as a means to assure paternity

    PubMed Central

    Strassmann, Beverly I.; Kurapati, Nikhil T.; Hug, Brendan F.; Burke, Erin E.; Gillespie, Brenda W.; Karafet, Tatiana M.; Hammer, Michael F.

    2012-01-01

    The sacred texts of five world religions (Buddhism, Christianity, Hinduism, Islam, and Judaism) use similar belief systems to set limits on sexual behavior. We propose that this similarity is a shared cultural solution to a biological problem: namely male uncertainty over the paternity of offspring. Furthermore, we propose the hypothesis that religious practices that more strongly regulate female sexuality should be more successful at promoting paternity certainty. Using genetic data on 1,706 father–son pairs, we tested this hypothesis in a traditional African population in which multiple religions (Islam, Christianity, and indigenous) coexist in the same families and villages. We show that the indigenous religion enables males to achieve a significantly (P = 0.019) lower probability of cuckoldry (1.3% versus 2.9%) by enforcing the honest signaling of menstruation, but that all three religions share tenets aimed at the avoidance of extrapair copulation. Our findings provide evidence for high paternity certainty in a traditional African population, and they shed light on the reproductive agendas that underlie religious patriarchy. PMID:22665788

  17. How Children's Educational Outcomes and Criminality Vary by Duration and Frequency of Paternal Incarceration.

    PubMed

    Andersen, Lars H

    2016-05-01

    Existing studies of the consequences of paternal incarceration for children treat paternal incarceration as a dichotomous event (a child either experiences paternal incarceration or does not), although effects could accumulate with both the frequency and duration of paternal incarcerations. In this article I use register data on Danish children from birth cohort 1991, some of whom experienced paternal incarceration before age 15, to show how educational outcomes and criminality up to age 20 vary by frequency and total duration of paternal incarceration. The high quality of Danish register data also allows me to distinguish between paternal arrest and paternal incarceration and to show results for the total duration of paternal incarcerations conditioned on frequency of paternal incarceration. Results show that educational outcomes and criminality indeed correlate with duration and frequency of paternal incarceration, indicating that treating paternal incarceration as a dichotomous event blurs important heterogeneity in the consequences of paternal incarceration.

  18. How Children’s Educational Outcomes and Criminality Vary by Duration and Frequency of Paternal Incarceration

    PubMed Central

    Andersen, Lars H.

    2016-01-01

    Existing studies of the consequences of paternal incarceration for children treat paternal incarceration as a dichotomous event (a child either experiences paternal incarceration or does not), although effects could accumulate with both the frequency and duration of paternal incarcerations. In this article I use register data on Danish children from birth cohort 1991, some of whom experienced paternal incarceration before age 15, to show how educational outcomes and criminality up to age 20 vary by frequency and total duration of paternal incarceration. The high quality of Danish register data also allows me to distinguish between paternal arrest and paternal incarceration and to show results for the total duration of paternal incarcerations conditioned on frequency of paternal incarceration. Results show that educational outcomes and criminality indeed correlate with duration and frequency of paternal incarceration, indicating that treating paternal incarceration as a dichotomous event blurs important heterogeneity in the consequences of paternal incarceration. PMID:27471324

  19. The use of Integra® bilaminar dermal regeneration template in apert syndactyly reconstruction: a novel alternative to simplify care and improve outcomes.

    PubMed

    Jung, James J; Woo, Albert S; Borschel, Gregory H

    2012-01-01

    The reconstruction of the third web space in Apert syndactyly often involves pedicled groin flaps to resurface exposed distal (and sometimes proximal) phalanges. We report a case in which the right-hand third web space was reconstructed with traditional pedicled groin flaps and the left hand with the Integra(®) regenerative skin template. We report that both left and right hands achieved similar outcomes, but the hand reconstructed with groin flaps required debulking, whilst the hand reconstructed with Integra was easier to care for.

  20. Paternal nicotine exposure alters hepatic xenobiotic metabolism in offspring.

    PubMed

    Vallaster, Markus P; Kukreja, Shweta; Bing, Xin Y; Ngolab, Jennifer; Zhao-Shea, Rubing; Gardner, Paul D; Tapper, Andrew R; Rando, Oliver J

    2017-02-14

    Paternal environmental conditions can influence phenotypes in future generations, but it is unclear whether offspring phenotypes represent specific responses to particular aspects of the paternal exposure history, or a generic response to paternal 'quality of life'. Here, we establish a paternal effect model based on nicotine exposure in mice, enabling pharmacological interrogation of the specificity of the offspring response. Paternal exposure to nicotine prior to reproduction induced a broad protective response to multiple xenobiotics in male offspring. This effect manifested as increased survival following injection of toxic levels of either nicotine or cocaine, accompanied by hepatic upregulation of xenobiotic processing genes, and enhanced drug clearance. Surprisingly, this protective effect could also be induced by a nicotinic receptor antagonist, suggesting that xenobiotic exposure, rather than nicotinic receptor signaling, is responsible for programming offspring drug resistance. Thus, paternal drug exposure induces a protective phenotype in offspring by enhancing metabolic tolerance to xenobiotics.

  1. Detection of imprinting mutations in Angelman syndrome using a probe for exon {alpha} of SNRPN

    SciTech Connect

    Beuten, J.; Sutcliffe, J.S.; Casey, B.M.

    1996-05-17

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct clinical disorders resulting from deficiency of paternal (PWS) or maternal (AS) expression of imprinted genes within chromosome 15q11-q13. 15 refs., 1 fig.

  2. Evolution and proximate expression of human paternal investment.

    PubMed

    Geary, D C

    2000-01-01

    In more than 95% of mammalian species, males provide little direct investment in the well-being of their offspring. Humans are one notable exception to this pattern and, to date, the factors that contributed to the evolution and the proximate expression of human paternal care are unexplained (T. H. Clutton-Brock, 1989). The nature, extent, and influence of human paternal investment on the physical and social well-being of children are reviewed in light of the social and ecological factors that are associated with paternal investment in other species. On the basis of this review, discussion of the evolution and proximate expression of human paternal investment is provided.

  3. Apert Syndrome: Molecularly Confirmed C.758C>G (P.Pro253Arg) in FGFR2

    SciTech Connect

    Cha Gon, Lee

    2016-03-21

    A 5-day-old girl was referred to our clinic for evaluation of congenital malformations. She was identified with a pathogenic mutation c.758C>G (p.Pro253Arg) in FGFR2 gene using targeted exome sequencing. The de novo mutation was confirmed with Sanger sequencing in the patient and her parents. She showed occipital plagiocephaly with frontal bossing (Figure A and B). Skull frontal and lateral radiography revealed fusion of most of the sutures except coronal suture, with convolutional markings (Figure D and E). She had complete cleft palate (Figure C). Her fused bilateral hands showed type II syndactyly with complete syndactyly between the ring and the little fingers (Figure F1-F3). Both toes were simple syndactyly with side-to-side fusion of skin (Figure G1-)

  4. COMPARISON OF PERIODONTAL PARAMETERS IN INDIVIDUALS WITH SYNDROMIC CRANIOSYNOSTOSIS

    PubMed Central

    Múfalo, Paula Simões; Kaizer, Rosane de Oliveira Fortes; Dalben, Gisele da Silva; de Almeida, Ana Lúcia Pompéia Fraga

    2009-01-01

    Craniosynostosis syndromes are characterized by premature closure of one or more cranial sutures, associated with other malformations, the most frequent of which are the Crouzon and Apert syndromes. Few studies in the literature have addressed the oral health of these individuals. The purpose of this study was to compare the periodontal status of individuals with Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes before toothbrushing and compare the efficiency of plaque removal before and after mechanical toothbrushing. The probing depth, plaque index (according to Löe and O'Leary), clinical attachment level, gingival index (according to Silness and Löe) and amount of keratinized mucosa were evaluated before toothbrushing, and the O'Leary plaque index was assessed before and immediately after toothbrushing, on the same day, in 27 individuals aged 11 to 36 years. There was statistically significant difference in the mean probing depth and clinical attachment level among regions (p=0.00; p=0.01, respectively). The gingival index did not reveal statistically significant differences. With regard to the plaque index, the left region exhibited higher plaque index values than the right and anterior regions. No significant results were found in the analysis of keratinized mucosa. Comparison of the O'Leary plaque index before and after toothbrushing revealed statistically significant difference for all syndromes except for the Pfeiffer syndrome (p<0.05). In conclusion, there was no difference in the periodontal status among individuals with syndromic craniosynostosis. The posterior region was more affected than the anterior region as to the presence of plaque, loss of insertion and probing depth. Individuals with Pfeiffer syndrome exhibited greater toothbrushing efficiency than individuals with the other craniosynostosis syndromes. PMID:19148400

  5. Comparison of periodontal parameters in individuals with syndromic craniosynostosis.

    PubMed

    Múfalo, Paula Simões; Kaizer, Rosane de Oliveira Fortes; Dalben, Gisele da Silva; de Almeida, Ana Lúcia Pompéia Fraga

    2009-01-01

    Craniosynostosis syndromes are characterized by premature closure of one or more cranial sutures, associated with other malformations, the most frequent of which are the Crouzon and Apert syndromes. Few studies in the literature have addressed the oral health of these individuals. The purpose of this study was to compare the periodontal status of individuals with Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes before toothbrushing and compare the efficiency of plaque removal before and after mechanical toothbrushing. The probing depth, plaque index (according to Löe and O'Leary), clinical attachment level, gingival index (according to Silness and Löe) and amount of keratinized mucosa were evaluated before toothbrushing, and the O'Leary plaque index was assessed before and immediately after toothbrushing, on the same day, in 27 individuals aged 11 to 36 years. There was statistically significant difference in the mean probing depth and clinical attachment level among regions (p=0.00; p=0.01, respectively). The gingival index did not reveal statistically significant differences. With regard to the plaque index, the left region exhibited higher plaque index values than the right and anterior regions. No significant results were found in the analysis of keratinized mucosa. Comparison of the O'Leary plaque index before and after toothbrushing revealed statistically significant difference for all syndromes except for the Pfeiffer syndrome (p<0.05). In conclusion, there was no difference in the periodontal status among individuals with syndromic craniosynostosis. The posterior region was more affected than the anterior region as to the presence of plaque, loss of insertion and probing depth. Individuals with Pfeiffer syndrome exhibited greater toothbrushing efficiency than individuals with the other craniosynostosis syndromes.

  6. Acne-associated syndromes: models for better understanding of acne pathogenesis.

    PubMed

    Chen, W; Obermayer-Pietsch, B; Hong, J-B; Melnik, B C; Yamasaki, O; Dessinioti, C; Ju, Q; Liakou, A I; Al-Khuzaei, S; Katsambas, A; Ring, J; Zouboulis, C C

    2011-06-01

    Acne, one of the most common skin disorders, is also a cardinal component of many systemic diseases or syndromes. Their association illustrates the nature of these diseases and is indicative of the pathogenesis of acne. Congenital adrenal hyperplasia (CAH) and seborrhoea-acne-hirsutism-androgenetic alopecia (SAHA) syndrome highlight the role of androgen steroids, while polycystic ovary (PCO) and hyperandrogenism-insulin resistance-acanthosis nigricans (HAIR-AN) syndromes indicate insulin resistance in acne. Apert syndrome with increased fibroblast growth factor receptor 2 (FGFR2) signalling results in follicular hyperkeratinization and sebaceous gland hypertrophy in acne. Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) and pyogenic arthritis-pyoderma gangrenosum-acne (PAPA) syndromes highlight the attributes of inflammation to acne formation. Advances in the understanding of the manifestation and molecular mechanisms of these syndromes will help to clarify acne pathogenesis and develop novel therapeutic modalities.

  7. Moral Status and the Wrongness of Paternalism

    PubMed Central

    Birks, David

    2014-01-01

    In this paper, I consider the view that paternalism is wrong when it demeans or diminishes the paternalizee’s moral status (the Moral Status Argument). I argue that we should reject the Moral Status Argument because it is both too narrow and too broad. It is too narrow because it cannot account for the wrongness of some of the most objectionable paternalistic interventions, namely strong paternalistic interventions. It is too broad because it is unable to distinguish between wrongful paternalistic acts that are plausibly considered more wrong than other wrongful paternalistic acts. PMID:25075133

  8. Advanced paternal age and reproductive outcome

    PubMed Central

    Wiener-Megnazi, Zofnat; Auslender, Ron; Dirnfeld, Martha

    2012-01-01

    Women have been increasingly delaying the start of motherhood in recent decades. The same trend is seen also for men. The influence of maternal age on fertility, chromosomal anomalies, pregnancy complications, and impaired perinatal and post-natal outcome of offspring, has been thoroughly investigated, and these aspects are clinically applied during fertility and pregestational counseling. Male aging and reproductive outcome has gained relatively less attention. The purpose of this review is to evaluate updated and relevant literature on the effect of paternal age on reproductive outcome. PMID:22157982

  9. Transposed Paternò-Büchi Reaction.

    PubMed

    Kumarasamy, Elango; Raghunathan, Ramya; Kandappa, Sunil Kumar; Sreenithya, A; Jockusch, Steffen; Sunoj, Raghavan B; Sivaguru, J

    2017-01-18

    A complementary strategy of utilizing ππ* excited state of alkene instead of nπ* excited state of the carbonyl chromophore in a "transposed Paternò-Büchi" reaction is evaluated with atropisomeric enamides as the model system. Based on photophysical investigations, the nature of excited states and the reactive pathway was deciphered leading to atropselective reaction. This new concept of switching of excited-state configuration should pave the way to control the stereochemical course of photoreaction due to the orbital approaches required for photochemical reactivity.

  10. Angelman Syndrome: Genetic Mechanisms and Relationship to Prader-Willi Syndrome.

    ERIC Educational Resources Information Center

    Smith, Arabella

    1994-01-01

    Research points to two distinct regions within the Prader-Willi chromosome region: one for Prader Willi syndrome and one for Angelman syndrome. Genetic mechanisms in Angelman syndrome are complex, and at present, three mechanisms are recognized: maternal deletion, paternal uniparental disomy, and a nondeleted nondisomic form. (Author/JDD)

  11. Observations of paternal response to sudden unanticipated infant death.

    PubMed

    Mandell, F; McAnulty, E; Reece, R M

    1980-02-01

    Support provided to families experiencing the loss of an infant to sudden infant death syndrome has focused on the description of maternal bonding and the consequences to the mother. However fathers also develop significant relationships with their infants, and their responses to the unanticipated loss of their children may be different than those of mothers. In this study 28 fathers who lost infants to SIDS appeared to have identifiable patterns of behavior which were more peculiar to men: (1) the necessity to "keep busy" with increased work; (2) feelings of diminished self-worth; (3) self-blame because of lack of "care" involvement; and (4) a limited ability to ask for help. That men should be stoic and less emotional and that one need not be concerned with the reactions of fathers appears to be a reflection of societal attitudes. However, these paternal behaviors, which emerge at a time of crisis and which obstruct full expression of grief, may unwittingly be promoted by medical and health care providers who are anxious to help fathers fulfill societal expectations of masculine strength.

  12. Paternal and sibling incest: a case report.

    PubMed

    Celbis, Osman; Ozcan, M Erkan; Ozdemir, Bora

    2006-01-01

    A case is reported of a female victim of paternal incest, who had also been raped repeatedly by her elder brother for two years. A survey of the literature showed no other report of such a case from Turkey. This does not necessarily mean that the incidence of paternal and sibling incest does not happen, but may indicate that incestuous abuse is not reported or handled without making it known to legal authorities. The victim was first raped by her 16 year-old brother when she was 9 years old. He raped her repeatedly over a period of two years, until he left home. Her father began raping the victim when she was 13 year-old, leaving her pregnant at age 15. He took her to a doctor for a termination of pregnancy. The father continued abuse after the termination. The victim left home to marry a man. The father filed a lawsuit against the man for taking the victim away from home. More openness and awareness of incest in Turkey may encourage the victims to seek help from medical and legal authorities.

  13. Untreated perinatal paternal depression: Effects on offspring.

    PubMed

    Gentile, Salvatore; Fusco, Maria Luigia

    2017-03-02

    Transition to parenthood represents an important life event which increases vulnerability to psychological disorders. Aim of this article is to analyze all studies which investigated the effects of untreated perinatal paternal depression in offspring. We searched pertinent, peer-reviewed articles published in English (January 1980 to April 2016) on MEDLINE, PsycINFO, and Science.gov. Twenty-three studies met the inclusion criteria. Most of the reviewed studies suffer from methodological limitations, including the small sample, the lack of a structured psychiatric diagnosis, and inclusion bias. Despite such limitations, paternal depression seems to be associated with an increased risk of developmental and behavioural problems and even psychiatric disorders in offspring. In particular, in infants and toddlers such problems vary from increased crying to hyperactivity and conduct problems to psychological and developmental impairment, and poor social outcomes. School-age children of depressed fathers have a doubled risk for suffering from specific psychiatric disorders. Hence, facilitating access to vigorous and evidence based treatments is a public health opportunity for improving the quality of life of depressed parents and their children. Evidences emerging from this review actually suggest that the traditional gender-focused approach to perinatal mood disorders should be completed by a family-centred approach, in order to improve the effectiveness of perinatal mental health programs.

  14. Parental Psychopathology and Paternal Child Neglect in Late Childhood

    ERIC Educational Resources Information Center

    Stewart, Chris; Mezzich, Ada C.; Day, Bang-Shiuh

    2006-01-01

    We aimed at determining the association of both severity of paternal and maternal substance use disorder (SUD) and psychiatric disorders with paternal child neglect severity during late childhood. The sample comprised 146 intact SUD (n=71) and non SUD (n=75) families with a 10-12 year old female or male biological offspring. The average age of…

  15. Genotype Reconstruction of Paternity in European Lobsters (Homarus gammarus)

    PubMed Central

    Ellis, Charlie D.; Hodgson, David J.; André, Carl; Sørdalen, Tonje K.; Knutsen, Halvor; Griffiths, Amber G. F.

    2015-01-01

    Decapod crustaceans exhibit considerable variation in fertilisation strategies, ranging from pervasive single paternity to the near-ubiquitous presence of multiple paternity, and such knowledge of mating systems and behaviour are required for the informed management of commercially-exploited marine fisheries. We used genetic markers to assess the paternity of individual broods in the European lobster, Homarus gammarus, a species for which paternity structure is unknown. Using 13 multiplexed microsatellite loci, three of which are newly described in this study, we genotyped 10 eggs from each of 34 females collected from an Atlantic peninsula in the south-western United Kingdom. Single reconstructed paternal genotypes explained all observed progeny genotypes in each of the 34 egg clutches, and each clutch was fertilised by a different male. Simulations indicated that the probability of detecting multiple paternity was in excess of 95% if secondary sires account for at least a quarter of the brood, and in excess of 99% where additional sire success was approximately equal. Our results show that multiple paternal fertilisations are either absent, unusual, or highly skewed in favour of a single male among H. gammarus in this area. Potential mechanisms upholding single paternal fertilisation are discussed, along with the prospective utility of parentage assignments in evaluations of hatchery stocking and other fishery conservation approaches in light of this finding. PMID:26566271

  16. Postdivorce Paternal Disengagement: Failed Mourning and Role Fusion

    ERIC Educational Resources Information Center

    Baum, Nehami

    2006-01-01

    In this article, I suggest that postdivorce paternal disengagement may be rooted in the father's tendency to link his children and ex-wife as a single entity in consequence of his failure to adequately mourn the loss of his ex-wife and to redefine his paternal role and identity in distinction from his spousal role and identity. I also suggest that…

  17. Male biological clock: a critical analysis of advanced paternal age

    PubMed Central

    Ramasamy, Ranjith; Chiba, Koji; Butler, Peter; Lamb, Dolores J.

    2016-01-01

    Extensive research defines the impact of advanced maternal age on couples’ fecundity and reproductive outcomes, but significantly less research has been focused on understanding the impact of advanced paternal age. Yet it is increasingly common for couples at advanced ages to conceive children. Limited research suggests that the importance of paternal age is significantly less than that of maternal age, but advanced age of the father is implicated in a variety of conditions affecting the offspring. This review examines three aspects of advanced paternal age: the potential problems with conception and pregnancy that couples with advanced paternal age may encounter, the concept of discussing a limit to paternal age in a clinical setting, and the risks of diseases associated with advanced paternal age. As paternal age increases, it presents no absolute barrier to conception, but it does present greater risks and complications. The current body of knowledge does not justify dissuading older men from trying to initiate a pregnancy, but the medical community must do a better job of communicating to couples the current understanding of the risks of conception with advanced paternal age. PMID:25881878

  18. Fathers in Turkey: Paternity Characteristics, Gender Role, Communication Skills

    ERIC Educational Resources Information Center

    ünüvar, Perihan

    2017-01-01

    Objective of this study is to examine the correlation the quality of paternity, gender roles and communication skills of fathers. The scores in the scale of supporting developmental tasks were used in order to determine the quality of paternity. The other data collection tools were the BEM sex role inventory and the communication skills inventory.…

  19. Intergenerational Comparisons of Paternal Korean Child Rearing Practices and Attitudes.

    ERIC Educational Resources Information Center

    Jung, Kwanghee; Honig, Alice Sterling

    2000-01-01

    Explored possible antecedents of paternal child rearing in middle-class, two-parent, Korean families. Found that fathers reported disciplinary practices similar to those of their own fathers. Fathers reported more nurturance and acceptance/flexibility than grandfathers. Paternal job satisfaction, relationship with own mother, and educational…

  20. Parental Psychopathology and Paternal Child Neglect in Late Childhood

    ERIC Educational Resources Information Center

    Stewart, Chris; Mezzich, Ada C.; Day, Bang-Shiuh

    2006-01-01

    We aimed at determining the association of both severity of paternal and maternal substance use disorder (SUD) and psychiatric disorders with paternal child neglect severity during late childhood. The sample comprised 146 intact SUD (n=71) and non SUD (n=75) families with a 10-12 year old female or male biological offspring. The average age of…

  1. Female reproductive synchrony predicts skewed paternity across primates

    PubMed Central

    Nunn, Charles L.; Schülke, Oliver

    2008-01-01

    Recent studies have uncovered remarkable variation in paternity within primate groups. To date, however, we lack a general understanding of the factors that drive variation in paternity skew among primate groups and across species. Our study focused on hypotheses from reproductive skew theory involving limited control and the use of paternity “concessions” by investigating how paternity covaries with the number of males, female estrous synchrony, and rates of extragroup paternity. In multivariate and phylogenetically controlled analyses of data from 27 studies on 19 species, we found strong support for a limited control skew model, with reproductive skew within groups declining as female reproductive synchrony and the number of males per group increase. Of these 2 variables, female reproductive synchrony explained more of the variation in paternity distributions. To test whether dominant males provide incentives to subordinates to resist matings by extragroup males, that is, whether dominants make concessions of paternity, we derived a novel prediction that skew is lower within groups when threat from outside the group exists. This prediction was not supported as a primary factor underlying patterns of reproductive skew among primate species. However, our approach revealed that if concessions occur in primates, they are most likely when female synchrony is low, as these conditions provide alpha male control of paternity that is assumed by concessions models. Collectively, our analyses demonstrate that aspects of male reproductive competition are the primary drivers of reproductive skew in primates. PMID:19018288

  2. Kinetics and specificity of paternal mitochondrial elimination in Caenorhabditis elegans

    PubMed Central

    Wang, Yang; Zhang, Yi; Chen, Lianwan; Liang, Qian; Yin, Xiao-Ming; Miao, Long; Kang, Byung-Ho; Xue, Ding

    2016-01-01

    In most eukaryotes, mitochondria are inherited maternally. The autophagy process is critical for paternal mitochondrial elimination (PME) in Caenorhabditis elegans, but how paternal mitochondria, but not maternal mitochondria, are selectively targeted for degradation is poorly understood. Here we report that mitochondrial dynamics have a profound effect on PME. A defect in fission of paternal mitochondria delays PME, whereas a defect in fusion of paternal mitochondria accelerates PME. Surprisingly, a defect in maternal mitochondrial fusion delays PME, which is reversed by a fission defect in maternal mitochondria or by increasing maternal mitochondrial membrane potential using oligomycin. Electron microscopy and tomography analyses reveal that a proportion of maternal mitochondria are compromised when they fail to fuse normally, leading to their competition for the autophagy machinery with damaged paternal mitochondria and delayed PME. Our study indicates that mitochondrial dynamics play a critical role in regulating both the kinetics and the specificity of PME. PMID:27581092

  3. Kinetics and specificity of paternal mitochondrial elimination in Caenorhabditis elegans.

    PubMed

    Wang, Yang; Zhang, Yi; Chen, Lianwan; Liang, Qian; Yin, Xiao-Ming; Miao, Long; Kang, Byung-Ho; Xue, Ding

    2016-09-01

    In most eukaryotes, mitochondria are inherited maternally. The autophagy process is critical for paternal mitochondrial elimination (PME) in Caenorhabditis elegans, but how paternal mitochondria, but not maternal mitochondria, are selectively targeted for degradation is poorly understood. Here we report that mitochondrial dynamics have a profound effect on PME. A defect in fission of paternal mitochondria delays PME, whereas a defect in fusion of paternal mitochondria accelerates PME. Surprisingly, a defect in maternal mitochondrial fusion delays PME, which is reversed by a fission defect in maternal mitochondria or by increasing maternal mitochondrial membrane potential using oligomycin. Electron microscopy and tomography analyses reveal that a proportion of maternal mitochondria are compromised when they fail to fuse normally, leading to their competition for the autophagy machinery with damaged paternal mitochondria and delayed PME. Our study indicates that mitochondrial dynamics play a critical role in regulating both the kinetics and the specificity of PME.

  4. Skewed paternity and sex allocation in hermaphroditic plants and animals.

    PubMed Central

    Greeff, J. M.; Nason, J. D.; Compton, S. G.

    2001-01-01

    Models predict a reduced allocation to sperm when females preferentially use one of two males' sperm and the males do not know who is favoured. An analogous discounting occurs in plants when their paternity success is skewed by random, non-heritable factors such as location in the population and pollinator behaviour. We present a model that shows that skewed paternity can affect the sex allocation of hermaphrodites, that is it leads to a female-biased investment. The model highlights the close links between local mate competition and sperm competition. We use paternity data from Ficus in order to illustrate that skews in paternity success can lead to a high degree of sibling gamete competition in an apparently open breeding system. Since skews in paternity are ubiquitous in hermaphroditic plants and animals these findings should apply broadly. PMID:11600078

  5. Maternal and paternal age and risk of autism spectrum disorders.

    PubMed

    Croen, Lisa A; Najjar, Daniel V; Fireman, Bruce; Grether, Judith K

    2007-04-01

    To explore the association between maternal and paternal age and risk of autism spectrum disorders (ASDs) in offspring. Historical birth cohort study. Kaiser Permanente (KP) in Northern California. All singleton children born at KP from January 1, 1995, to December 31, 1999, were included in the study. We identified 593 children who had ASD diagnoses (International Classification of Diseases, Ninth Revision, Clinical Modification, code 299.0 or 299.8) recorded 2 or more times in KP outpatient databases before May 2005. These children were compared with all 132,251 remaining singleton KP births. Main Exposures Maternal and paternal age at birth of offspring. Relative risks (RRs) estimated from proportional hazards regression models. Risk of ASDs evaluated in relation to maternal and paternal age, adjusted for each other and for the sex, birth date, and birth order of the child, maternal and paternal educational level, and maternal and paternal race/ethnicity. Risk of ASDs increased significantly with each 10-year increase in maternal age (adjusted RR, 1.31; 95% confidence interval [CI], 1.07-1.62) and paternal age (RR, 1.28; 95% CI, 1.09-1.51). Adjusted RRs for both maternal and paternal age were elevated for children with autistic disorder (maternal age: RR, 1.18; 95% CI, 0.87-1.60; paternal age: RR, 1.34; 95% CI, 1.06-1.69) and children with Asperger disorder or pervasive developmental disorder not otherwise specified (maternal age: RR, 1.45; 95% CI, 1.09-1.93; paternal age: RR, 1.24; 95% CI, 0.99-1.55). Associations with parental age were somewhat stronger for girls than for boys, although sex differences were not statistically significant. Advanced maternal and paternal ages are independently associated with ASD risk.

  6. Medical paternalism serves the patient best.

    PubMed

    Lim, L S

    2002-03-01

    It seems obvious that in a post-modern, constructivist world where meaning and value systems are often subjective and relative, any absolutist view is likely to be questionable. This is more so if it relates to ethics, the foundations, interpretation and application of which have been and continue to be much debated. So, in addressing the proposition, my efforts were directed at identifying a position that would mediate polarity. I examined the contention that the doctor, because he is better informed, may claim greater acuity and powers of judgment, and its defences against the charge of interfering with individual liberty and autonomy through various arguments such as the harm principle, the welfare, the principle of legal moralism and the appeal to uncertainty. While there is some validity to the arguments proposed, absolute paternalism would seem incompatible with respect for individual rights. How satisfactory, then, is the paradigm shift from paternalism to the independent choice model where the doctor presents neutral statistics as little biased as possible by his own views and judgments and leaves the decision making entirely to the patient or his/her relatives. This clearly had its limitations too. As with much of human experience, the answer would seem to rest in mediating the happy mean. Recognising a distinction between autonomy (self-determination) and independence (total freedom of choice without any interference) allows for a model of qualified independence or "enhanced autonomy" (Quill & Brody, 1996). This is predicated on doctor-patient dialogue, exchange of ideas/views, negotiation of differences, and sharing power and influence for the common purpose of serving the patient's best interest. This model would seem to be a responsible and effective approach to management of clinical dilemmas, as well as one that in its pluralistic approach is consistent with fundamental moral and philosophic propositions. It is by no means flawless, but in an

  7. Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.

    PubMed Central

    Flanagan, N; Boyadjiev, S A; Harper, J; Kyne, L; Earley, M; Watson, R; Jabs, E W; Geraghty, M T

    1998-01-01

    We report on the occurrence of coronal craniosynostosis, anal anomalies, and porokeratosis in two male sibs. A third male sib was phenotypically normal as were the parents. The occurrence of these three clinical features has, to our knowledge, not been reported before. Cutaneous or anal anomalies or both have been reported in a number of syndromes associated with craniosynostosis, including Crouzon, Pfeiffer, Apert, and Beare-Stevenson syndromes. These syndromes are associated with mutations in the fibroblast growth factor receptor genes FGFR1, FGFR2, and FGFR3. They are inherited in an autosomal dominant fashion. In contrast, the cases we report do not carry any of the common FGFR mutations and the pedigree suggests autosomal or X linked recessive inheritance. Images PMID:9733036

  8. The impact of paternity on male-infant association in a primate with low paternity certainty

    PubMed Central

    Langos, Doreen; Kulik, Lars; Mundry, Roger; Widdig, Anja

    2013-01-01

    In multi-male groups where females mate promiscuously, male-infant associations have rarely been studied. However, recent studies have shown that males selectively support their offspring during agonistic conflicts with other juveniles and that father’s presence accelerates offspring maturation. Furthermore, it was shown that males invest in unrelated infants to enhance future mating success with the infant’s mother. Hence, infant care might provide fitness gain for males. Here we investigate male-infant associations in rhesus macaques (Macaca mulatta), a primate with low paternity certainty as females mate with multiple partners and males ensure paternity less efficiently through mate-guarding. We combined behavioral data with genetic paternity analyses of one cohort of the semifree-ranging population of Cayo Santiago (Puerto Rico) and recorded affiliative and aggressive interactions between focal subjects and adult males from birth to sexual maturation (0–4 years) of focal subjects. Our results revealed, that 9.6% of all interactions of focal subjects involved an adult male and 94% of all male-infant interactions were affiliative, indicating the rareness of male-infant aggression. Second and most interestingly, sires were more likely to affiliate with their offspring than non-sires with unrelated infants. This preference was independent of mother’s proximity and emphasized during early infancy. Male-infant affiliation rose with infant age and was pronounced between adult males and male rather than female focal subjects. Overall our results suggest that male-infant affiliation are also an important component in structuring primate societies and affiliation directed towards own offspring presumably represent low cost paternal care. PMID:23682587

  9. Adolescents' paternal attachment and Internet use.

    PubMed

    Lei, Li; Wu, Yana

    2007-10-01

    As children approach middle childhood and adolescence, the influence of fathers on children's behavior and development becomes more equivalent to that of mothers. The quality of father-child attachment operates as a stronger predictor of adolescents' cognitive and emotional development. During adolescence, symbolic communication by means of the Internet becomes increasingly more important than physical approximate-seeking behavior in infancy and childhood. Adolescents might regard the Internet as their new attachment figure or may seek new attachment figures through the Internet. This study was designed to address the impacts of father-adolescent attachment on adolescents' Internet use. Seven hundred twelve adolescent participants completed questionnaires to assess the associations among their paternal attachment, intensity of Internet use, and Internet services preference. The result revealed that alienation positively predicted pathological Internet use (PIU) directly and also indirectly mediated by leisure services preference. Trust predicted PIU negatively. These results help to provide parents and educators with guidance in adolescents' more appropriate Internet use.

  10. [Microsatellite DNA analysis as a tool for forensic paternity testing (DNA paternity testing)].

    PubMed

    Veselinović, Igor

    2006-01-01

    MICROSATELLITE ANALYSIS: By using serological or HLA-testing, the alleged father can be excluded as the biological father, but, regardless of the degree of probability, positive paternity results cannot be obtained without DNA testing. According to the results of the National Human Genome Project, human genome consists of approximately 30.000 genes. The vast majority of human DNA is not organized in genes and has no genetic expression or visible function. Non-coding DNA contains genetic markers important for human identification. Short tandem repeats, or STRs, are a class of microsatellites consisting of tandemly repeated sequences of 2 to 6 base pair length monomers. Most of the microsatellites show a high degree of polymorphism, which can be evaluated by PCR technique, and used in criminalistics, forensic identification and parentage testing. A source of DNA in parentage testing are blood samples or buccal swabs which are routinelly used. Amplification of isolated DNA can be performed in 25-30 cycles by PCR, and fragments are separated by capillary electrophoresis. The probability of paternity of 99.99% or higher corresponds to the paternity "practically proven", indicating that the alleged father is the biological father. Such results can be obtained only by DNA testing. DNA-testing laboratories are required to conduct validation of laboratory facilities, equipment and staff and are subject to permanent control by the society.

  11. Male age mediates reproductive investment and response to paternity assurance.

    PubMed

    Benowitz, Kyle M; Head, Megan L; Williams, Camellia A; Moore, Allen J; Royle, Nick J

    2013-08-07

    Theory predicts that male response to reduced paternity will depend on male state and interactions between the sexes. If there is little chance of reproducing again, then males should invest heavily in current offspring, regardless of their share in paternity. We tested this by manipulating male age and paternity assurance in the burying beetle Nicrophorus vespilloides. We found older males invested more in both mating effort and parental effort than younger males. Furthermore, male age, a component of male state, mediated male response to perceived paternity. Older males provided more prenatal care, whereas younger males provided less prenatal care, when perceived paternity was low. Adjustments in male care, however, did not influence selection acting indirectly on parents, through offspring performance. This is because females adjusted their care in response to the age of their partner, providing less care when paired with older males than younger males. As a result offspring, performance did not differ between treatments. Our study shows, for the first time, that a male state variable is an important modifier of paternity-parental care trade-offs and highlights the importance of social interactions between males and females during care in determining male response to perceived paternity.

  12. Modeling paternal attentiveness: distressed pups evoke differential neurobiological and behavioral responses in paternal and nonpaternal mice.

    PubMed

    Lambert, K G; Franssen, C L; Hampton, J E; Rzucidlo, A M; Hyer, M M; True, M; Kaufman, C; Bardi, M

    2013-03-27

    With the exception of parturition and lactation, male California deer mice (Peromyscus californicus) exhibit the same parental responses toward offspring as conspecific females. A closely related species, Peromyscus maniculatus, however, rarely exhibits paternal responses. In the current study, a comparative species approach was used to assess paternal responses in both Peromyscus species with varying levels of paternal experience (biological fathers, pup-exposed virgins, and pup-naïve virgins). Of special interest was the persistence of the males to direct their attention toward a distressed pup housed in a small enclosure (i.e., a barrier existed between males and pups). In addition to pup-directed responses, non-pup-directed responses such as grooming, resting and jumping were recorded. Subsequently, all animals' brains were assessed for fos-immunoreactivity (ir) in several areas previously associated with the paternal brain circuit. Overall, P. californicus exhibited more pup-directed responses as well as less fos-ir in brain areas involved in emotional integration and processing such as the insula and anterior cingulate. In addition to increased activation of emotional regulatory areas, P. maniculatus males, observed to direct their behavior away from the pup, exhibited higher fos-ir in the nucleus accumbens (involved in goal acquisition), perhaps due to a heightened motivation to avoid the pups. Interestingly, experience with pups altered the lateral septum and amygdala activation of P. maniculatus to levels similar to P. californicus biological fathers. Finally, fos-ir was increased in the medial preoptic area, involved in the maintenance of maternal behavior, in the biological fathers of both species. Thus, although biological predispositions toward pup-directed behaviors were observed in P. californicus males, evidence of a few shifts toward the paternal neural activation profile was apparent in P. maniculatus males. Specifically, modifications in fear

  13. Angelman syndrome and isovaleric acidemia: What is the link?

    PubMed

    Lambrecht, Alix; Pichard, Samia; Maurey, Hélène; Segarra, Nuria Garcia; Drunat, Séverine; Acquaviva-Bourdain, Cécile; Passemard, Sandrine; Benoist, Jean-François; Fauret-Amsellem, Anne-Laure; Schiff, Manuel

    2015-06-01

    We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both diseases may have severe impact on neurodevelopment, adequate treatment of IVA should be discussed. In our patient however, the variant identified likely causes asymptomatic organic aciduria. Such findings emphasize that paternal UPD 15 can rarely lead to co-occurrence of Angelman syndrome and potentially treatable inborn errors of metabolism.

  14. Angelman syndrome and isovaleric acidemia: What is the link?

    PubMed Central

    Lambrecht, Alix; Pichard, Samia; Maurey, Hélène; Segarra, Nuria Garcia; Drunat, Séverine; Acquaviva-Bourdain, Cécile; Passemard, Sandrine; Benoist, Jean-François; Fauret-Amsellem, Anne-Laure; Schiff, Manuel

    2015-01-01

    We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both diseases may have severe impact on neurodevelopment, adequate treatment of IVA should be discussed. In our patient however, the variant identified likely causes asymptomatic organic aciduria. Such findings emphasize that paternal UPD 15 can rarely lead to co-occurrence of Angelman syndrome and potentially treatable inborn errors of metabolism. PMID:26937393

  15. Paternal Mitochondrial Transmission in Intra-Species Caenorhabditis briggsae Hybrids

    PubMed Central

    Ross, Joseph A.; Howe, Dana K.; Coleman-Hulbert, Anna; Denver, Dee R.; Estes, Suzanne

    2016-01-01

    To study mitochondrial–nuclear genetic interactions in the nematode Caenorhabditis briggsae, our three laboratories independently created 38 intra-species cytoplasmic–nuclear hybrid (cybrid) lines. Although the cross design combines maternal mitotypes with paternal nuclear genotypes, eight lines (21%) unexpectedly contained paternal mitotypes. All eight share in common ancestry of one of two genetically related strains. This unexpected parallel observation of paternal mitochondrial transmission, undesirable given our intent of creating cybrids, provides a serendipitous experimental model and framework to study the molecular and evolutionary basis of uniparental mitochondrial inheritance. PMID:27613821

  16. Paternal behavior in the spiny mouse (Acomys cahirinus).

    PubMed

    Makin, J W; Porter, R H

    1984-07-01

    The responsiveness of adult male spiny mice (Acomys cahirinus) to both their own and alien precocial young was investigated. Paternal behavior was manifested primarily by the males huddling with their offspring and the coordination of pup attendance between adult males and females. With less than 2 days exposure to their own neonates, males were found to discriminate between their own and alien young. Experience plays an important role in the development of paternal behavior in spiny mice. Males who have never had pups of their own sniff and attack unfamiliar neonates more than males who have fathered pups. The adaptive significance of paternal investment in this uniquely precocial murid rodent was discussed.

  17. [Paternity in the perspective of a group of fathers].

    PubMed

    Schneider, J F; Trindade, E; Mello, A M; Barreto, M L

    1997-07-01

    Looking upon occidental silence which involves the paternity, we performed this research with the intention to conceive some associated aspects: the family role, birth of son expectation and father social role. For that, 7 fathers have been interviewed with ages between 21 and 45 years. This study allowed us observed that the paternity of the interviewed fathers is experienced by the father-son relationship preoccupation, kids education and the constant search of ways to experience the paternity as a form to be near of the kids and the wife.

  18. Establishment of Legal Paternity for Children of Unmarried American Women : Trade-Offs in Male Commitment to Paternal Investment.

    PubMed

    Anderson, Kermyt G

    2017-02-15

    The establishment of a legal father for children of unmarried parents reflects both high paternity confidence and male willingness to commit to paternal investment. Whether an unmarried man voluntarily acknowledges paternity after a child is born has important consequences for both the mother and child. This paper brings to bear a life history perspective on paternity establishment, noting that men face trade-offs between mating and parental effort and that women will adjust their investment in children based on expected male investment. I predict that paternity establishment will be more likely when the mother has high socioeconomic status, when maternal health is good, and when the child is male, low parity, or a singleton (versus multiple) birth. I further predict that establishment of paternity will be associated with increased maternal investment in offspring, resulting in healthier babies with higher birthweights who are more likely to be breastfed. These predictions are tested using data on 5.4 million births in the United States from 2009 through 2013. Overall the results are consistent with the hypothesis that the trade-offs men face between reproductive and parental investment influence whether men voluntarily acknowledge paternity when a child is born.

  19. Canine Paternity Testing--Using Personal Experiences To Teach Science.

    ERIC Educational Resources Information Center

    Rascati, Ralph J.

    2002-01-01

    Outlines how an example from the field of animal husbandry is used in a DNA Technology course to motivate students to take a deeper interest in the material. Focuses on paternity testing in dogs. (DDR)

  20. Paternal programming of offspring cardiometabolic diseases in later life

    PubMed Central

    Li, Jian; Tsuprykov, Oleg; Yang, Xiaoping; Hocher, Berthold

    2016-01-01

    Early – intrauterine – environmental factors are linked to the development of cardiovascular disease in later life. Traditionally, these factors are considered to be maternal factors such as maternal under and overnutrition, exposure to toxins, lack of micronutrients, and stress during pregnancy. However, in the recent years, it became obvious that also paternal environmental factors before conception and during sperm development determine the health of the offspring in later life. We will first describe clinical observational studies providing evidence for paternal programming of adulthood diseases in progeny. Next, we describe key animal studies proving this relationship, followed by a detailed analysis of our current understanding of the underlying molecular mechanisms of paternal programming. Alterations of noncoding sperm micro-RNAs, histone acetylation, and targeted as well as global DNA methylation seem to be in particular involved in paternal programming of offspring's diseases in later life. PMID:27457668

  1. Paternal Age: How Does It Affect a Baby?

    MedlinePlus

    ... associated with a slightly higher risk of miscarriage. Autism. Research shows a link between advanced paternal age and an increased frequency of autism. Birth defects. Although the overall risk is exceedingly ...

  2. Paternal postpartum depression: what health care providers should know.

    PubMed

    Musser, Anna K; Ahmed, Azza H; Foli, Karen J; Coddington, Jennifer A

    2013-01-01

    Paternal postpartum depression (PPD) is a clinically significant problem for families that is currently underscreened, underdiagnosed, and undertreated. Maternal PPD is a well-known condition and has been extensively researched. In comparison, PPD in fathers and its potential effects on the family are not widely recognized. Studies have shown the importance of optimal mental health in fathers during the postpartum period. Negative effects of paternal PPD affect marital/partner relationships, infant bonding, and child development. To promote optimal health for parents and children, pediatric nurse practitioners must stay up to date on this topic. This article discusses the relationship of paternal PPD to maternal PPD; the consequences, signs, and symptoms; and the pediatric nurse practitioner's role in assessing and managing paternal PPD.

  3. A defence of medical paternalism: maximising patients' autonomy.

    PubMed Central

    Komrad, M S

    1983-01-01

    All illness represents a state of diminished autonomy and therefore the doctor-patient relationship necessarily and justifiably involves a degree of medical paternalism argues the author, an American medical student. In a broad-ranging paper he discusses the concepts of autonomy and paternalism in the context of the doctor-patient relationship. Given the necessary diminution of autonomy which illness inflicts, a limited form of medical paternalism, aimed at restoring or maximising the patient's autonomy is entirely acceptable, and indeed fundamental to the relationship he argues. However, the exercise of this paternalism should be flexible and related to the current 'level of autonomy' of the patient himself. An editorial in this issue comments briefly on this paper. PMID:6834402

  4. Multiple paternity in the freshwater snail, Potamopyrgus antipodarum.

    PubMed

    Soper, Deanna M; Delph, Lynda F; Lively, Curt M

    2012-12-01

    Mating multiply may incur costs, such as exposure to predators and to sexually transmitted diseases. Nevertheless, it may be favored, in spite of these costs, as a way to increase the genetic diversity of offspring through fertilization by multiple males. Here, we tested for multiple paternity in a freshwater snail (Potamopyrgus antipodarum), which is host to several species of sterilizing trematode worms. Using microsatellites markers, we found multiple paternity in two different snail populations, with as many as seven males fertilizing a single female. In addition, high evenness of sire fertilization was found within individual broods. Multiple paternity can occur for a variety of reasons; however, given that these populations experience high risk of infection by a sterilizing trematode, one potential explanation may be that multiple paternity and high evenness of sire fertilizations increase the chances of the production of parasite-resistant offspring.

  5. Paternal RNA contributions in the Caenorhabditis elegans zygote

    PubMed Central

    Stoeckius, Marlon; Grün, Dominic; Rajewsky, Nikolaus

    2014-01-01

    Development of the early embryo is thought to be mainly driven by maternal gene products and post-transcriptional gene regulation. Here, we used metabolic labeling to show that RNA can be transferred by sperm into the oocyte upon fertilization. To identify genes with paternal expression in the embryo, we performed crosses of males and females from divergent Caenorhabditis elegans strains. RNA sequencing of mRNAs and small RNAs in the 1-cell hybrid embryo revealed that about one hundred sixty paternal mRNAs are reproducibly expressed in the embryo and that about half of all assayed endogenous siRNAs and piRNAs are also of paternal origin. Together, our results suggest an unexplored paternal contribution to early development. PMID:24894551

  6. Paternal RNA contributions in the Caenorhabditis elegans zygote.

    PubMed

    Stoeckius, Marlon; Grün, Dominic; Rajewsky, Nikolaus

    2014-08-18

    Development of the early embryo is thought to be mainly driven by maternal gene products and post-transcriptional gene regulation. Here, we used metabolic labeling to show that RNA can be transferred by sperm into the oocyte upon fertilization. To identify genes with paternal expression in the embryo, we performed crosses of males and females from divergent Caenorhabditis elegans strains. RNA sequencing of mRNAs and small RNAs in the 1-cell hybrid embryo revealed that about one hundred sixty paternal mRNAs are reproducibly expressed in the embryo and that about half of all assayed endogenous siRNAs and piRNAs are also of paternal origin. Together, our results suggest an unexplored paternal contribution to early development. © 2014 The Authors.

  7. Paternal exposure and counselling: experience of a Teratology Information Service.

    PubMed

    De Santis, Marco; Cesari, Elena; Cavaliere, Annafranca; Ligato, Maria Serena; Nobili, Elena; Visconti, Daniela; Caruso, Alessandro

    2008-09-01

    We describe paternal exposure and counselling in a selected population calling to an Italian Teratology Information Service (TIS). The majority of callers asked for paternal drug exposure (76%, drugs except chemotherapy) and treatment for cancer (17%, chemotherapy and/or radiotherapy). Others asked for exposure to diagnostic radiations (4%), recreational drugs (2%) and occupational chemicals (1%). Among paternal drugs neurological compounds, immunosuppressive drugs and antiviral agents were the main reasons for calling. In humans, there are no evidences of birth defects after paternal exposures, but to minimize any possible risk, counselling in men exposed to radio and chemotherapy should recommend delaying conception for at least 3 months after the end of the therapy. Male patients treated with drugs, whose teratogenic potential has been well assessed or suspected for maternal exposure, should be advised to practice effective birth control during therapy and up to one or two cycles of spermatogenesis and to avoid semen contact with vaginal walls during first trimester of pregnancy.

  8. Genetic dissimilarity predicts paternity in the smooth newt (Lissotriton vulgaris).

    PubMed

    Jehle, Robert; Sztatecsny, Marc; Wolf, Jochen B W; Whitlock, April; Hödl, Walter; Burke, Terry

    2007-10-22

    Under sperm competition, paternity is apportioned by polyandrous females according to the order of matings and the genetic quality of the inseminating males. In order to distinguish between these two effects, we sequentially paired 12 female smooth newts (Lissotriton vulgaris) with each of two males and, where possible, repeated the same procedure in reverse order of the identical males after assumed sperm depletion. For a total of 578 offspring, amplified fragment length polymorphisms genetic markers revealed multiple paternities in all matings, without significant first- or second-male sperm precedence. The paternity share of individual males was transitive across the two trials with male order switch, and successful males had a significantly higher genetic dissimilarity to the female than expected by chance. We argue that patterns of paternity in natural newt populations are determined through a combination of good genes and relatedness.

  9. Canine Paternity Testing--Using Personal Experiences To Teach Science.

    ERIC Educational Resources Information Center

    Rascati, Ralph J.

    2002-01-01

    Outlines how an example from the field of animal husbandry is used in a DNA Technology course to motivate students to take a deeper interest in the material. Focuses on paternity testing in dogs. (DDR)

  10. Multiple paternity in the freshwater snail, Potamopyrgus antipodarum

    PubMed Central

    Soper, Deanna M; Delph, Lynda F; Lively, Curt M

    2012-01-01

    Mating multiply may incur costs, such as exposure to predators and to sexually transmitted diseases. Nevertheless, it may be favored, in spite of these costs, as a way to increase the genetic diversity of offspring through fertilization by multiple males. Here, we tested for multiple paternity in a freshwater snail (Potamopyrgus antipodarum), which is host to several species of sterilizing trematode worms. Using microsatellites markers, we found multiple paternity in two different snail populations, with as many as seven males fertilizing a single female. In addition, high evenness of sire fertilization was found within individual broods. Multiple paternity can occur for a variety of reasons; however, given that these populations experience high risk of infection by a sterilizing trematode, one potential explanation may be that multiple paternity and high evenness of sire fertilizations increase the chances of the production of parasite-resistant offspring. PMID:23301182

  11. Paternal nicotine exposure alters hepatic xenobiotic metabolism in offspring

    PubMed Central

    Vallaster, Markus P; Kukreja, Shweta; Bing, Xin Y; Ngolab, Jennifer; Zhao-Shea, Rubing; Gardner, Paul D; Tapper, Andrew R; Rando, Oliver J

    2017-01-01

    Paternal environmental conditions can influence phenotypes in future generations, but it is unclear whether offspring phenotypes represent specific responses to particular aspects of the paternal exposure history, or a generic response to paternal ‘quality of life’. Here, we establish a paternal effect model based on nicotine exposure in mice, enabling pharmacological interrogation of the specificity of the offspring response. Paternal exposure to nicotine prior to reproduction induced a broad protective response to multiple xenobiotics in male offspring. This effect manifested as increased survival following injection of toxic levels of either nicotine or cocaine, accompanied by hepatic upregulation of xenobiotic processing genes, and enhanced drug clearance. Surprisingly, this protective effect could also be induced by a nicotinic receptor antagonist, suggesting that xenobiotic exposure, rather than nicotinic receptor signaling, is responsible for programming offspring drug resistance. Thus, paternal drug exposure induces a protective phenotype in offspring by enhancing metabolic tolerance to xenobiotics. DOI: http://dx.doi.org/10.7554/eLife.24771.001 PMID:28196335

  12. Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.

    PubMed

    Piccione, Maria; Antona, Vincenzo; Niceta, Marcello; Fabiano, Carmelo; Martines, Manuela; Bianchi, Alberto; Corsello, Giovanni

    2009-09-01

    When normal development and growth of the calvarial sutures is disrupted, craniosynostosis (premature calvarial suture fusion) may result. Classical craniosynostosis syndromes are autosomal dominant traits and include Apert, Pfeiffer, Crouzon, Jackson-Weiss, and Saethre-Chotzen syndromes. In these conditions, there is premature fusion of skull bones leading to an abnormal head shape, ocular hypertelorism with proptosis, and midface hypoplasia. It is known that mutations in the fibroblast growth factor receptors 1, 2, and 3 cause craniosynostosis. We report on a child with a clinically diagnosed Pfeiffer syndrome that shows the missense point mutation Q289P in exon 8 of the FGFR2 gene. This is a mutation not previously described in the Pfeiffer syndrome but reported in the Crouzon, Jackson-Weiss, and Saethre-Chotzen syndromes. In this paper, we propose the concept that these disorders may represent one genetic condition with phenotypic variability.

  13. Prader-Willi Syndrome: Intellectual Abilities and Behavioural Features by Genetic Subtype

    ERIC Educational Resources Information Center

    Milner, Katja M.; Craig, Ellen E.; Thompson, Russell J.; Veltman, Marijcke W. M.; Simon Thomas, N.; Roberts, Sian; Bellamy, Margaret; Curran, Sarah R.; Sporikou, Caroline M. J.; Bolton, Patrick F.

    2005-01-01

    Background: Studies of chromosome 15 abnormality have implicated over-expression of paternally imprinted genes in the 15q11-13 region in the aetiology of autism. To test this hypothesis we compared individuals with Prader-Willi syndrome (PWS) due to uniparental disomy (UPD--where paternally imprinted genes are over-expressed) to individuals with…

  14. Prader-Willi Syndrome: Intellectual Abilities and Behavioural Features by Genetic Subtype

    ERIC Educational Resources Information Center

    Milner, Katja M.; Craig, Ellen E.; Thompson, Russell J.; Veltman, Marijcke W. M.; Simon Thomas, N.; Roberts, Sian; Bellamy, Margaret; Curran, Sarah R.; Sporikou, Caroline M. J.; Bolton, Patrick F.

    2005-01-01

    Background: Studies of chromosome 15 abnormality have implicated over-expression of paternally imprinted genes in the 15q11-13 region in the aetiology of autism. To test this hypothesis we compared individuals with Prader-Willi syndrome (PWS) due to uniparental disomy (UPD--where paternally imprinted genes are over-expressed) to individuals with…

  15. Paternal exposure to mercury and spontaneous abortions.

    PubMed Central

    Cordier, S; Deplan, F; Mandereau, L; Hemon, D

    1991-01-01

    The potential reproductive toxicity of mercury vapour was investigated by comparing the rate of spontaneous abortions among the wives of 152 workers occupationally exposed to mercury vapour with the rate among the wives of 374 controls in the same plant. The results indicate an increase in the rate of spontaneous abortions with an increasing concentration of mercury in the fathers' urine before pregnancy. At concentrations above 50 micrograms/l the risk of spontaneous abortion doubles (odds ratio (OR) = 2.26; 95% confidence interval (95% CI) = 0.99-5.23). Special care was taken to avoid bias in reporting abortions and known risk factors of spontaneous abortions do not seem to explain the results. Several biological mechanisms might account for them including, in particular, direct action of mercury on the paternal reproductive system and indirect toxicity to the mother or embryo through transport of mercury from the father. These indications could be of practical importance and should therefore be further documented. PMID:2064975

  16. Effective Population Sizes with Multiple Paternity

    PubMed Central

    Sugg, D. W.; Chesser, R. K.

    1994-01-01

    While the concept of effective population size is of obvious applicability to many questions in population genetics and conservation biology, its utility has suffered due to a lack of agreement among its various formulations. Often, mathematical formulations for effective sizes apply restrictive assumptions that limit their applicability. Herein, expressions for effective sizes of populations that account for mating tactics, biases in sex ratios, and differential dispersal rates (among other parameters) are developed. Of primary interest is the influence of multiple paternity on the maintenance of genetic variation in a population. In addition to the standard inbreeding and variance effective sizes, intragroup (coancestral) and intergroup effective sizes also are developed. Expressions for effective sizes are developed for the beginning of nonrandom gene exchanges (initial effective sizes), the transition of gene correlations (instantaneous effective sizes), and the steady-state (asymptotic effective size). Results indicate that systems of mating that incorporate more than one male mate per female increase all effective sizes above those expected from polygyny and monogamy. Instantaneous and asymptotic sizes can be expressed relative to the fixation indices. The parameters presented herein can be utilized in models of effective sizes for the study of evolutionary biology and conservation genetics. PMID:7982568

  17. AFLP fingerprinting for paternity testing in ducks.

    PubMed

    Huang, C-W; Cheng, Y-S; Rouvier, R; Yang, K-T; Wu, C-P; Huang, M-C

    2007-06-01

    1. The accuracy and reproducibility of AFLP fingerprinting was investigated in the duck (Anas Platyrhynchos), using a multicolour fluorescent labeling technique. The fluorescent labelling fragments were separated on a capillary electrophoresis-base ABI PRISM 3100 Genetic Analyzer. 2. A total of 337 AFLP peaks with 103 of them being polymorphic markers were generated by 16 sets consisting of EcoRI/TaqI primer pair combinations. The number and size range of AFLP polymorphisms detected per primer pair varied from 3 to 11 and 58 to 290 bp, respectively. About 30.6% (103/337) of AFLP peaks were detected polymorphisms, with an average of 6.4 polymorphic markers per primer pair. 3. The clear polymorphic peaks were amplified with EcoR+AC/Taq+AC primer combinations. The AFLP peaks showed high reproducibility. From the family testing, we found that the fingerprints of all the offspring were derived from one or other parent. Therefore, we conclude that AFLP fingerprinting might be a suitable method for duck paternity testing.

  18. Cues of Paternal Uncertainty and Father to Child Physical Abuse as Reported by Mothers in Rio de Janeiro, Brazil

    ERIC Educational Resources Information Center

    Alexandre, Gisele Caldas; Nadanovsky, Paulo; Wilson, Margo; Daly, Martin; Moraes, Claudia Leite; Reichenheim, Michael

    2011-01-01

    Objective: Paternity is uncertain, so if paternal feelings evolved to promote fitness, we might expect them to vary in response to variables indicative of paternity probability. We therefore hypothesized that the risk of lapses of paternal affection, including abusive assaults on children, will be exacerbated by cues of non-paternity. Methods:…

  19. Cues of Paternal Uncertainty and Father to Child Physical Abuse as Reported by Mothers in Rio de Janeiro, Brazil

    ERIC Educational Resources Information Center

    Alexandre, Gisele Caldas; Nadanovsky, Paulo; Wilson, Margo; Daly, Martin; Moraes, Claudia Leite; Reichenheim, Michael

    2011-01-01

    Objective: Paternity is uncertain, so if paternal feelings evolved to promote fitness, we might expect them to vary in response to variables indicative of paternity probability. We therefore hypothesized that the risk of lapses of paternal affection, including abusive assaults on children, will be exacerbated by cues of non-paternity. Methods:…

  20. Multicolor FISH studies of male non-disjunction: Evidence for a paternal age effect

    SciTech Connect

    Griffin, D.K.; Millie, E.A.; Sheean, L.A.

    1994-09-01

    Approximately 5-10% of autosomal trisomies and the majority of sex chromosome aneuploidies are paternally derived, thus paternal non-disjunction is an important contributor to human chromosomal syndromes. We have been using multicolor FISH to screen for aneuploidy in sperm of normal males and to determine whether there is, among individuals or among chromosomes, variation in the likelihood of non-disjunction. Our initial studies based on analysis of 5000 sperm scored per chromosome in nine males identified significant differences in disomy rates for chromosomes 16, 18 and the sex chromosomes. We have now extended those analyses to a new series of 10 donors aged 22 to 45 to confirm or refute our observations of chromosome-specific differences in rates of disomy; to determine if the size of the centromeric (alpha satellite) sequences is related to non-disjunction frequency; and to determine if there is a paternal as well as a maternal age effect on non-disjunction. For these studies, we have used 3 color FISH for chromosomes 18 and the X and Y chromosomes to now score {approximately}20,000 sperm for each of 10 new donors. Our results provide little evidence for an effect of the size of the Y chromosome centromere on the frequency of sex chromosome disomy. However, we have found considerable variation in rates of disomy among individuals and have confirmed significant differences among chromosomes in the likelihood of non-disjunction; i.e., the rate of non-disjunction of the sex chromosomes is 3.5 -4 times greater than that of chromosome 18 and meiosis II errors are significantly more likely for the Y chromosome than for the X chromosome. Specifically, we have identified increases in the frequency of disomy 18 and both meiosis I (XY) and meiosis II (XX and YY) sex chromosome disomy although the effect is only significant for total sex chromosome disomy.

  1. Parental origin of mutations in sporadic cases of Treacher Collins syndrome.

    PubMed

    Splendore, Alessandra; Jabs, Ethylin Wang; Félix, Têmis Maria; Passos-Bueno, Maria Rita

    2003-09-01

    In some autosomal dominant conditions, there is a correlation between new mutations and paternal age, with new mutations arising almost exclusively in the male germ line. To test this hypothesis in Treacher Collins syndrome, we analyzed 22 sporadic cases, determining the parental origin of the pathogenic mutation in 10 informative families. Mutations were found to be of both paternal and maternal origin, without a detectable parental age effect, confirming that a paternal age effect is not universal to all autosomal dominant disorders. A discussion on the parental origin of mutations and paternal age effect in other diseases is included.

  2. Neither testosterone levels nor aggression decrease when the male Mongolian gerbil (Meriones unguiculatus) displays paternal behavior.

    PubMed

    Juana, Luis; Bárbara, Vázquez-Gaytán; Martín, Martínez-Torres; Agustín, Carmona; Guillermo, Ramos-Blancas; Guadalupe, Ortíz

    2010-03-01

    The first studies that correlated mammalian paternal behavior and testosterone levels indicated that the concentration of this steroid hormone decreases when males exhibit paternal care. However, recent studies have also shown that testosterone levels do not decrease when males display paternal behavior. In this study, we measured testosterone levels in plasma throughout the reproductive cycle of the Mongolian gerbil. Testosterone concentrations were correlated with paternal care as well as aggression. We also examined whether there is a trade-off between paternal behavior and aggression in this mammal. Our results show that Mongolian gerbil testosterone levels do not decrease when the males give paternal care. Likewise, male Mongolian gerbils exhibit high levels of aggression while displaying paternal behavior, indicating that there is no trade-off between aggression and paternal behavior. More studies are needed to determine whether testosterone is involved in the regulation of paternal behavior in this rodent.

  3. Major paternal depression and child consultation for developmental and behavioural problems.

    PubMed

    Davé, Shreya; Sherr, Lorraine; Senior, Rob; Nazareth, Irwin

    2009-03-01

    It is well established that maternal depression is associated with enhanced child consultation for developmental and behaviour problems, but there is a dearth of research on paternal depression and child outcome. To assess the association of major paternal depressed mood and child consultation for developmental and behaviour problems. Cross-sectional study. General practices in London and Hertfordshire, UK. Fathers of children aged 4-6 years were recruited via 13 general practices. A sample of 248 biological father and mother dyads completed measures on depressive syndrome (Patient Health Questionnaire), child consultations with health professionals for developmental and behaviour problems, fathering, couple relationship quality, alcohol misuse, other psychiatric impairment, and sociodemographic factors. Eight out of 248 fathers (3%) had a major depressive syndrome. Sixty-five out of 247 (26%) fathers reported they were responsible for taking their child to see the doctor at least half the time compared with mothers. Children of fathers with a major depressive syndrome were almost nine times more likely to have consulted a health professional for speech and language problems (adjusted odds ratio [OR] = 8.67, 95% confidence interval [CI] = 1.99 to 37.67, P = 0.004) and seven times more likely to have consulted for externalising behaviour problems (adjusted OR = 6.98, 95% CI = 1.00 to 48.76, P = 0.05). Children of fathers with major depression were more likely to consult for speech and language problems and externalising behaviour problems. A longitudinal study is recommended to identify causal mechanisms.

  4. Major paternal depression and child consultation for developmental and behavioural problems

    PubMed Central

    Davé, Shreya; Sherr, Lorraine; Senior, Rob; Nazareth, Irwin

    2009-01-01

    Background It is well established that maternal depression is associated with enhanced child consultation for developmental and behaviour problems, but there is a dearth of research on paternal depression and child outcome. Aim To assess the association of major paternal depressed mood and child consultation for developmental and behaviour problems. Design of study Cross-sectional study. Setting General practices in London and Hertfordshire, UK. Method Fathers of children aged 4–6 years were recruited via 13 general practices. A sample of 248 biological father and mother dyads completed measures on depressive syndrome (Patient Health Questionnaire), child consultations with health professionals for developmental and behaviour problems, fathering, couple relationship quality, alcohol misuse, other psychiatric impairment, and sociodemographic factors. Results Eight out of 248 fathers (3%) had a major depressive syndrome. Sixty-five out of 247 (26%) fathers reported they were responsible for taking their child to see the doctor at least half the time compared with mothers. Children of fathers with a major depressive syndrome were almost nine times more likely to have consulted a health professional for speech and language problems (adjusted odds ratio [OR] = 8.67, 95% confidence interval [CI] = 1.99 to 37.67, P = 0.004) and seven times more likely to have consulted for externalising behaviour problems (adjusted OR = 6.98, 95% CI = 1.00 to 48.76, P = 0.05). Conclusion Children of fathers with major depression were more likely to consult for speech and language problems and externalising behaviour problems. A longitudinal study is recommended to identify causal mechanisms. PMID:19275834

  5. The Palatal and Oral Manifestations of Muenke Syndrome (FGFR3 related craniosynostosis)

    PubMed Central

    Agochukwu, Nneamaka B.; Solomon, Benjamin D.; Doherty, Emily S.; Muenke, Maximilian

    2012-01-01

    Palatal anomalies including cleft palate and higharched palate have been reported in the most common craniosynostosis syndromes, including Pfeiffer syndrome (associated with mutations in FGFR1, FGFR2), Apert syndrome (FGFR2), Muenke syndrome (FGFR3) and Crouzon syndrome (FGFR2). Although Muenke syndrome is the most common syndromic form of craniosynostosis, the frequency of oral and palatal anomalies including high arched palate, cleft lip with or without cleft palate has not been documented in a patient series of Muenke syndrome to date. Further, to our knowledge, cleft lip and palate has not been reported yet in a patient with Muenke syndrome (a previous patient with isolated cleft palate has been reported). This study sought to evaluate the frequency of palatal anomalies in patients with Muenke syndrome through both a retrospective investigation and literature review. A total of 21 patients who met criteria for this study were included in the retrospective review. 15 patients (71%) had a structural anomaly of the palate. Cleft lip and palate was present in one patient (5%). Other palatal findings included: high arched hard palate in 14 patients (67%). Individuals with Muenke syndrome have the lowest incidence of cleft palate among the most common craniosynostosis syndromes. However, high arched palate in Muenke syndrome is common and may warrant clinical attention, as these individuals are more susceptible to recurrent chronic otitis media with effusion, dental malocclusion and hearing loss. PMID:22565872

  6. Paternal mental health following perceived traumatic childbirth.

    PubMed

    Inglis, Christian; Sharman, Rachael; Reed, Rachel

    2016-10-01

    the objective behind the current study was to explore the experiences and perceptions of fathers after childbirth trauma, an area of minimal research. This is part two of a two-part series conducted in 2014 researching the mental health of fathers after experiencing a perceived traumatic childbirth. qualitative methodology using semi-structured interviews and reporting of qualitative questions administered in part one's online survey (Inglis, 2014). interviews conducted face-to-face at an Australian University or on Skype. sixty-nine responded to the online qualitative questions and of these seven were interviewed. thematic analysis of verbal and written qualitative responses. thematic analysis of qualitative survey data and interviews found a global theme 'standing on the sideline' which encompassed two major themes of witnessing trauma: unknown territory, and the aftermath: dealing with it, and respective subthemes. according to the perceptions and experiences of the fathers, there was a significant lack of communication between birthing teams and fathers, and fathers experienced a sense of marginalisation before, during, and after the traumatic childbirth. The findings of this study suggest that these factors contributed to the perception of trauma in the current sample. Whilst many fathers reported the negative impact of the traumatic birth on themselves and their relationships, some reported post-traumatic growth from the experience and others identified friends and family as a valuable source of support. improved communication between midwifery staff and fathers before, during and after childbirth may reduce the rates of paternal postpartum mental health difficulties and experiences of trauma. Copyright © 2016 Elsevier Ltd. All rights reserved.

  7. Prader-Willi syndrome.

    PubMed Central

    Cassidy, S B

    1997-01-01

    Prader-Willi syndrome is a complex disorder affecting multiple systems with many manifestations relating to hypothalamic insufficiency. Major findings include infantile hypotonia, developmental delay and mental retardation, behaviour disorder, characteristic facial appearance, obesity, hypogonadism, and short stature. Obesity and the behavioural problems are the major causes of morbidity and mortality. Prader-Willi syndrome is caused by abnormalities of the imprinted region of proximal 15q and results from absence of the normally active paternal genes in this region. Such absence results from paternal interstitial deletion, maternal uniparental disomy, or a mutation or other abnormality in the imprinting process. Diagnostic identification of all causes has become available in recent years, permitting early detection and institution of appropriate management. This testing has permitted recent identification of some phenotypic differences among affected subjects of different race and between those with deletions and uniparental disomy as a cause. Images PMID:9391886

  8. Dynamic paternity allocation as a function of male plumage color in barn swallows.

    PubMed

    Safran, R J; Neuman, C R; McGraw, K J; Lovette, I J

    2005-09-30

    Paternity in male animals can be influenced by their phenotypic signals of quality. Accordingly, the behavior underlying patterns of paternity should be flexible as signals of quality change. To evaluate the dynamics of paternity allocation, we analyzed paternity before and after manipulating plumage coloration, a known signal of quality, in male barn swallows Hirundo rustica. We found that, in successive breeding bouts, only males whose plumage color was experimentally enhanced received greater paternity from their social mates, demonstrating evidence for flexible and dynamic paternity allocation and the importance for males of maintaining signals of quality well after pair bond formation.

  9. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism.

    PubMed

    Fernández-Rebollo, Eduardo; Lecumberri, Beatriz; Garin, Intza; Arroyo, Javier; Bernal-Chico, Ana; Goñi, Fernando; Orduña, Rosa; Castaño, Luis; de Nanclares, Guiomar Pérez

    2010-12-01

    Type I pseudohypoparathyroidism (PHP-I) can be subclassified into Ia and Ib, depending on the presence or absence of Albright's hereditary osteodystrophy's phenotype, diminished α-subunit of the stimulatory G protein (G(s)α) activity and multihormonal resistance. Whereas PHP-Ia is mainly associated with heterozygous inactivating mutations in G(s)α-coding exons of GNAS, PHP-Ib is caused by imprinting defects of GNAS. To date, just one patient with PHP and complete paternal uniparental disomy (UPD) has been described. We sought to identify the underlining molecular defect in twenty patients with parathyroid hormone resistance, hypocalcemia and hyperphosphatemia, and abnormal methylation pattern at GNAS locus. Microsatellite typing and comparative genome hybridization were performed for proband and parents. We describe four patients with partial paternal UPD of chromosome 20 involving pat20qUPD in one case, from 20q13.13-qter in two cases, and pat20p heterodisomy plus interstitial 20q isodisomy in one patient. These observations demonstrate that mitotic recombination of chromosome 20 can also give rise to UPD and PHP, a situation similar to other imprinting disorders, such as Beckwith-Wiedemann syndrome or neonatal diabetes.

  10. Paternal care and litter size coevolution in mammals.

    PubMed

    Stockley, Paula; Hobson, Liane

    2016-04-27

    Biparental care of offspring occurs in diverse mammalian genera and is particularly common among species with socially monogamous mating systems. Despite numerous well-documented examples, however, the evolutionary causes and consequences of paternal care in mammals are not well understood. Here, we investigate the evolution of paternal care in relation to offspring production. Using comparative analyses to test for evidence of evolutionary associations between male care and life-history traits, we explore if biparental care is likely to have evolved because of the importance of male care to offspring survival, or if evolutionary increases in offspring production are likely to result from the evolution of biparental care. Overall, we find no evidence that paternal care has evolved in response to benefits of supporting females to rear particularly costly large offspring or litters. Rather, our findings suggest that increases in offspring production are more likely to follow the evolution of paternal care, specifically where males contribute depreciable investment such as provisioning young. Through coevolution with litter size, we conclude that paternal care in mammals is likely to play an important role in stabilizing monogamous mating systems and could ultimately promote the evolution of complex social behaviours.

  11. Elevated paternal glucocorticoid exposure modifies memory retention in female offspring.

    PubMed

    Yeshurun, Shlomo; Rogers, Jake; Short, Annabel K; Renoir, Thibault; Pang, Terence Y; Hannan, Anthony J

    2017-09-01

    Recent studies have demonstrated that behavioral traits are subject to transgenerational modification by paternal environmental factors. We previously reported on the transgenerational influences of increased paternal stress hormone levels on offspring anxiety and depression-related behaviors. Here, we investigated whether offspring sociability and cognition are also influenced by paternal stress. Adult C57BL/6J male mice were treated with corticosterone (CORT; 25mg/L) for four weeks prior to paired-matings to generate F1 offspring. Paternal CORT treatment was associated with decreased body weights of female offspring and a marked reduction of the male offspring. There were no differences in social behavior of adult F1 offspring in the three-chamber social interaction test. Despite male offspring of CORT-treated fathers displaying hyperactivity in the Y-maze, there was no observable difference in short-term spatial working memory. Spatial learning and memory testing in the Morris water maze revealed that female, but not male, F1 offspring of CORT-treated fathers had impaired memory retention. We used our recently developed methodology to analyze the spatial search strategy of the mice during the learning trials and determined that the impairment could not be attributed to underlying differences in search strategy. These results provide evidence for the impact of paternal corticosterone administration on offspring cognition and complement the cumulative knowledge of transgenerational epigenetic inheritance of acquired traits in rodents and humans. Copyright © 2017 Elsevier Ltd. All rights reserved.

  12. Multiple paternity and hybridization in two smooth-hound sharks.

    PubMed

    Marino, Ilaria A M; Riginella, Emilio; Gristina, Michele; Rasotto, Maria B; Zane, Lorenzo; Mazzoldi, Carlotta

    2015-08-10

    Multiple paternity appears to be a common trait of elasmobranch mating systems, with its occurrence likely driven by convenience, due to females seeking to minimize the stress of male harassment. Here we use molecular markers to analyse the frequency of multiple paternity in two related viviparous sharks, Mustelus mustelus and Mustelus punctulatus. We first applied molecular methods to assign pregnant females, embryos and additional reference adults (N = 792) to one of the two species. Paternity analysis was performed using a total of 9 polymorphic microsatellites on 19 females and 204 embryos of M. mustelus, and on 13 females and 303 embryos of M. punctulatus. Multiple paternity occurs in both species, with 47% of M. mustelus and 54% of M. punctulatus litters sired by at least two fathers. Female fecundity is not influenced by multiple mating and in 56% of polyandrous litters paternity is skewed, with one male siring most of the pups. Genetic analyses also revealed hybridization between the two species, with a M. punctulatus female bearing pups sired by a M. mustelus male. The frequency of polyandrous litters in these species is consistent with aspects of their reproductive biology, such as synchronous ovulation and possible occurrence of breeding aggregations.

  13. Maternal and paternal imprisonment in the stress process.

    PubMed

    Foster, Holly; Hagan, John

    2013-05-01

    Parental incarceration is now prevalent in community samples (e.g., with 11% of children reporting paternal imprisonment and 3% reporting maternal imprisonment in a national sample), pointing to a potentially important childhood trauma that should be included in work on contemporary childhood stressors in this era of mass incarceration. This paper investigates the influences of maternal and paternal imprisonment on changes in young adult mental health using a nationally representative sample. We assess four perspectives-gendered loss, same-sex role model, intergenerational stress, and maternal salience - on the joint influences of maternal and paternal incarceration within the broader stress process paradigm. The results generalize support for a gendered loss perspective developed in work on parental death and an early small study of parental incarceration. This pattern reveals maternal incarceration increases depressive symptoms while paternal incarceration increases substance role problems. Chronicity of parental imprisonment and its timing are also influential. Analyses further specify a vulnerability of male and minority young adults to high levels of mental health problems following maternal and paternal incarceration in adolescence.

  14. Can paternal leakage maintain sexually antagonistic polymorphism in the cytoplasm?

    PubMed Central

    Kuijper, B; Lane, N; Pomiankowski, A

    2015-01-01

    A growing number of studies in multicellular organisms highlight low or moderate frequencies of paternal transmission of cytoplasmic organelles, including both mitochondria and chloroplasts. It is well established that strict maternal inheritance is selectively blind to cytoplasmic elements that are deleterious to males – ’mother's curse’. But it is not known how sensitive this conclusion is to slight levels of paternal cytoplasmic leakage. We assess the scope for polymorphism when individuals bear multiple cytoplasmic alleles in the presence of paternal leakage, bottlenecks and recurrent mutation. When fitness interactions among cytoplasmic elements within an individual are additive, we find that sexually antagonistic polymorphism is restricted to cases of strong selection on males. However, when fitness interactions among cytoplasmic elements are nonlinear, much more extensive polymorphism can be supported in the cytoplasm. In particular, mitochondrial mutants that have strong beneficial fitness effects in males and weak deleterious fitness effects in females when rare (i.e. ’reverse dominance’) are strongly favoured under paternal leakage. We discuss how such epistasis could arise through preferential segregation of mitochondria in sex-specific somatic tissues. Our analysis shows how paternal leakage can dampen the evolution of deleterious male effects associated with predominant maternal inheritance of cytoplasm, potentially explaining why ’mother's curse’ is less pervasive than predicted by earlier work. PMID:25653025

  15. Paternal care and litter size coevolution in mammals

    PubMed Central

    Hobson, Liane

    2016-01-01

    Biparental care of offspring occurs in diverse mammalian genera and is particularly common among species with socially monogamous mating systems. Despite numerous well-documented examples, however, the evolutionary causes and consequences of paternal care in mammals are not well understood. Here, we investigate the evolution of paternal care in relation to offspring production. Using comparative analyses to test for evidence of evolutionary associations between male care and life-history traits, we explore if biparental care is likely to have evolved because of the importance of male care to offspring survival, or if evolutionary increases in offspring production are likely to result from the evolution of biparental care. Overall, we find no evidence that paternal care has evolved in response to benefits of supporting females to rear particularly costly large offspring or litters. Rather, our findings suggest that increases in offspring production are more likely to follow the evolution of paternal care, specifically where males contribute depreciable investment such as provisioning young. Through coevolution with litter size, we conclude that paternal care in mammals is likely to play an important role in stabilizing monogamous mating systems and could ultimately promote the evolution of complex social behaviours. PMID:27097924

  16. Multiple paternity and hybridization in two smooth-hound sharks

    PubMed Central

    Marino, Ilaria A. M.; Riginella, Emilio; Gristina, Michele; Rasotto, Maria B.; Zane, Lorenzo; Mazzoldi, Carlotta

    2015-01-01

    Multiple paternity appears to be a common trait of elasmobranch mating systems, with its occurrence likely driven by convenience, due to females seeking to minimize the stress of male harassment. Here we use molecular markers to analyse the frequency of multiple paternity in two related viviparous sharks, Mustelus mustelus and Mustelus punctulatus. We first applied molecular methods to assign pregnant females, embryos and additional reference adults (N = 792) to one of the two species. Paternity analysis was performed using a total of 9 polymorphic microsatellites on 19 females and 204 embryos of M. mustelus, and on 13 females and 303 embryos of M. punctulatus. Multiple paternity occurs in both species, with 47% of M. mustelus and 54% of M. punctulatus litters sired by at least two fathers. Female fecundity is not influenced by multiple mating and in 56% of polyandrous litters paternity is skewed, with one male siring most of the pups. Genetic analyses also revealed hybridization between the two species, with a M. punctulatus female bearing pups sired by a M. mustelus male. The frequency of polyandrous litters in these species is consistent with aspects of their reproductive biology, such as synchronous ovulation and possible occurrence of breeding aggregations. PMID:26257113

  17. Paternal genetic history of the Vlax Roma.

    PubMed

    Zalán, Andrea; Béres, Judit; Pamjav, Horolma

    2011-03-01

    Romanies constitute the largest minority group belonging to different subgroups in Hungary. Vlax Romanies are one of these Romani subgroups. The Gypsies came to Hungary from the Balkans in two large migrations. The Carpathian Romanies arrived in the 15th century and the Vlax Romanies came in the 19th century. The Carpathian Gypsies speak Hungarian and the Vlax Romanies speak Hungarian and Romani languages. Only a limited number of genetic studies of Y-chromosomal haplotypes/haplogroups have been done before, moreover most studies did not contain information regarding the investigated Roma populations which subgroups belong to. In the present study, we analyzed a wide set of Y-chromosomal markers to do comparable studies of the Vlax Roma in eastern Hungarian regions. The results can be compared in the context of previously published data on other Romani groups, Indian and Hungarian reference populations. Haplogroups H1a-M82 and J2a2-M67 were most common in the investigated population groups. A median-joining network of haplogroup H1a-M82 has demonstrated the sharing of identical Indian specific Y-chromosomal lineages between all Romani populations including Malaysian Indians as well as the Vlax Romanies. This common lineage of haplogroup H1a-M82 represents a common descent from a single ancestor provides a strong genetic link to the ancestral geographical origin of the proto-Gypsies. The detected haplogroups in the Vlax Romani population groups can be classified into two different Y-chromosomal lineages based on their putative origin. These lineages include ancestral Indian (H1a-M82), present-day Eurasian (J2a2-M67, J2*-M172, E1b1b1a-M78, I1-M253, R1a1-M198 and R1b1-P25) Y-chromosome lineages. Presence of these lineages in the paternal gene pool of the Roma people is illustrative of the Gypsy migration route from India through the Balkan to the Carpathian Basin. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  18. The effects of advanced paternal age on fertility

    PubMed Central

    Kovac, Jason R; Addai, Josephine; Smith, Ryan P; Coward, Robert M; Lamb, Dolores J; Lipshultz, Larry I

    2013-01-01

    Modern societal pressures and expectations over the past several decades have resulted in the tendency for couples to delay conception. While women experience a notable decrease in oocyte production in their late thirties, the effect of age on spermatogenesis is less well described. While there are no known limits to the age at which men can father children, the effects of advanced paternal age are incompletely understood. This review summarizes the current state of knowledge regarding advanced paternal age and its implications on semen quality, reproductive success and offspring health. This review will serve as a guide to physicians in counseling men about the decision to delay paternity and the risks involved with conception later in life. PMID:23912310

  19. Establishing paternity in Whooping Cranes (Grus americana) by DNA analysis

    USGS Publications Warehouse

    Longmire, Jonathan L.; Gee, George F.; Hardekopf, C.L.; Mark, G.A.

    1992-01-01

    DNA fingerprinting was used to study paternity and genetic variability within a captive flock of Whooping Cranes (Grus americana). Fingerprint patterns for 42 individuals were obtained by digesting genomic crane DNAs with HaeIII followed by electrophoresis, blotting, and hybridization to the M13 minisatellite probe. Despite finding reduced levels of genetic variation in the Whooping Crane due to a population "bottleneck," these polymorphisms were successfully used to determine paternity in six of seven cases of captive propagation where the maternal-offspring relationship was known, but where the sire was unknown. These determinations of paternity are required for effective genetic management of the crane flock. These results also revealed a number of heterozygous minisatellite loci that will be valuable in future assessments of genetic variability in this endangered species.

  20. Establishing paternity in whooping cranes (Grus Americana) by DNA analysis

    USGS Publications Warehouse

    Longmire, J.L.; Gee, G.F.; Hardekopf, C.L.; Mark, G.A.

    1992-01-01

    DNA fingerprinting was used to study paternity and genetic variability within a captive flock of Whooping Cranes (Grus americana). Fingerprint patterns for 42 individuals were obtained by digesting genomic crane DNAs with HaeIII followed by electrophoresis, blotting, and hybridization to the M13 minisatellite probe. Despite finding reduced levels of genetic variation in the Whooping Crane due to a population 'bottleneck,' these polymorphisms were successfully used to determine paternity in six of seven cases of captive propagation where the maternal-offspring relationship was known, but where the sire was unknown. These determinations of paternity are required for effective genetic management of. the crane flock. These results also revealed a number of heterozygous minisatellite loci that will be valuable in future assessments of genetic variability in this endangered species.

  1. Primate paternal care: interactions between biology and social experience

    PubMed Central

    Storey, Anne E.; Ziegler, Toni E.

    2016-01-01

    We review recent research on the roles of hormones and social experiences on the development of paternal care in humans and non-human primates. Generally, lower concentrations of testosterone and higher concentrations of oxytocin are associated with greater paternal responsiveness. Hormonal changes prior to the birth appear to be important in preparation for fatherhood and changes after the birth are related to how much time fathers spend with offspring and whether they provide effective care. Prolactin may facilitate approach and the initiation of infant care, and in some biparental non-human primates, it affects body mass regulation. Glucocorticoids are involved in coordinating reproductive and parental behavior between mates. New research involving intranasal oxytocin and neuropeptide receptor polymorphisms may help us understand individual variation in paternal responsiveness. This area of research, integrating both biological factors and the role of early and adult experience, has the potential to suggest individually designed interventions that can strengthen relationships between fathers and their offspring. PMID:26253726

  2. Experimental parasite infection reveals costs and benefits of paternal effects

    PubMed Central

    Kaufmann, Joshka; Lenz, Tobias L; Milinski, Manfred; Eizaguirre, Christophe

    2014-01-01

    Forces shaping an individual's phenotype are complex and include transgenerational effects. Despite low investment into reproduction, a father's environment and phenotype can shape its offspring's phenotype. Whether and when such paternal effects are adaptive, however, remains elusive. Using three-spined sticklebacks in controlled infection experiments, we show that sperm deficiencies in exposed males compared to their unexposed brothers functionally translated into reduced reproductive success in sperm competition trials. In non-competitive fertilisations, offspring of exposed males suffered significant costs of reduced hatching success and survival but they reached a higher body condition than their counterparts from unexposed fathers after experimental infection. Interestingly, those benefits of paternal infection did not result from increased resistance but from increased tolerance to the parasite. Altogether, these results demonstrate that parasite resistance and tolerance are shaped by processes involving both genetic and non-genetic inheritance and suggest a context-dependent adaptive value of paternal effects. PMID:25168056

  3. Characteristic neurobiological patterns differentiate paternal responsiveness in two Peromyscus species.

    PubMed

    Lambert, Kelly G; Franssen, Catherine L; Bardi, Massimo; Hampton, Joseph E; Hainley, Leslie; Karsner, Stephanie; Tu, Eddie B; Hyer, Molly M; Crockett, Ashly; Baranova, Anya; Ferguson, Tajh; Ferguson, Tenaj; Kinsley, Craig H

    2011-01-01

    Rodent paternal models provide unique opportunities to investigate the emergence of affiliative social behavior in mammals. Using biparental and uniparental Peromyscus species (californicus and maniculatus, respectively) we assessed paternal responsiveness by exposing males to biological offspring, unrelated conspecific pups, or familiar brothers following a 24-hour separation. The putative paternal circuit we investigated included brain areas involved in fear/anxiety [cingulate cortex (Cg), medial amygdala (MeA), paraventricular nucleus of the hypothalamus (PVN), and lateral septum (LS)], parental motivation [medial preoptic area (MPOA)], learning/behavioral plasticity (hippocampus), olfaction [pyriform cortex (PC)], and social rewards (nucleus accumbens). Paternal experience in californicus males reduced fos immunoreactivity (ir) in several fear/anxiety areas; additionally, all californicus groups exhibited decreased fos-ir in the PC. Enhanced arginine vasopressin (AVP) and oxytocin (OT)-ir cell bodies and fibers, as well as increased neuronal restructuring in the hippocampus, were also observed in californicus mice. Multidimensional scaling analyses revealed distinct brain activation profiles differentiating californicus biological fathers, pup-exposed virgins, and pup-naïve virgins. Specifically, associations among MPOA fos, CA1 fos, dentate gyrus GFAP, CA2 nestin-, and PVN OT-ir characterized biological fathers; LS fos-, Cg fos-, and AVP-ir characterized pup-exposed virgins, and PC-, PVN-, and MeA fos-ir characterized pup-naïve virgins. Thus, whereas fear/anxiety areas characterized pup-naïve males, neurobiological factors involved in more diverse functions such as learning, motivation, and nurturing responses characterized fatherhood in biparental californicus mice. Less distinct paternal-dependent activation patterns were observed in uniparental maniculatus mice. These data suggest that dual neurobiological circuits, leading to the inhibition of social

  4. Maternal and paternal lineage double heterozygosity alteration in familial breast cancer: a first case report.

    PubMed

    Pilato, Brunella; De Summa, Simona; Danza, Katia; Lambo, Rossana; Paradiso, Angelo; Tommasi, Stefania

    2010-12-01

    Hereditary breast cancer syndrome was firstly associated with BRCA1 and BRCA2 genes the mutations of which confer high risk to develop breast and/or ovarian cancer. Double heterozygosity is a rare condition in which both BRCA1 and BRCA2 mutations are present in a family at the same time. In the current study, a family with double heterozygosity has been reported. Furthermore, for the first time a molecular analysis in both proband lineages, maternal and paternal, has been reported to understand the provenience of both germinal mutations.The case regards a woman who developed breast and ovarian cancer with liver metastasis which presented two mutations, each in the two genes, transmitted from her mother and her father, respectively. In this family all available members have been investigated. The concomitant presence of these peculiar mutations was never reported before suggesting a link with Caucasian population from Southern Italy.

  5. [Evaluation of 9 STR loci in paternity identification].

    PubMed

    Liu, Y

    2000-11-01

    9 STR loci obtained by four-dye fluorescent labeling technique in paternity identification provides much information at one test and the cumulative chance of exclusion gets up to 0.9999. Our result of 268 paternity test cases shows that there are at least two incompatible loci in all Mother-Child-Alleged Father (M-C-AF) exclusive cases. To those unexclusive cases, The RCP all reaches international standard. It is suggested that more STR loci be used for accurate test in Child-Alleged Father(C-AF) case.

  6. The architecture of madness and the good of paternalism.

    PubMed

    Sine, David M

    2008-09-01

    From the era of the asylum to the present day, the architectural design of inpatient facilities has long been considered a contributing factor in the treatment of patients with mental and substance use disorders. The author examines the ethical basis for decisions about the design of psychiatric hospitals--architectural paternalism. The ethic of paternalism in the design of asylums and in contemporary thinking about psychiatric hospital design is described. The author argues that limitation of patients' autonomy and rights by the purpose-built architectural environment is legitimate and ethical.

  7. Postdivorce paternal disengagement: failed mourning and role fusion.

    PubMed

    Baum, Nehami

    2006-04-01

    In this article, I suggest that postdivorce paternal disengagement may be rooted in the father's tendency to link his children and ex-wife as a single entity in consequence of his failure to adequately mourn the loss of his ex-wife and to redefine his paternal role and identity in distinction from his spousal role and identity. I also suggest that the ex-spousal conflict that disengaged fathers often blame for their disengagement is the product of these failures and shows the progress from conflict through disengagement. These claims are developed on the basis of findings of other authors and illustrated though a case analysis of an absent father.

  8. Paternal kin recognition and infant care in white-faced capuchins (Cebus capucinus).

    PubMed

    Sargeant, Elizabeth J; Wikberg, Eva C; Kawamura, Shoji; Jack, Katharine M; Fedigan, Linda M

    2016-06-01

    Evidence for paternal kin recognition and paternally biased behaviors is mixed among primates. We investigate whether infant handling behaviors exhibit paternal kin biases in wild white-faced capuchins monkeys (Cebus capucinus) by comparing interactions between infants and genetic sires, potential sires, siblings (full sibling, maternal, and paternal half-siblings) and unrelated handlers. We used a linear mixed model approach to analyze data collected on 21 focal infants from six groups in Sector Santa Rosa, Costa Rica. Our analyses suggest that the best predictor of adult and subadult male interactions with an infant is the male's dominance status, not his paternity status. We found that maternal siblings but not paternal siblings handled infants more than did unrelated individuals. We conclude that maternal but not paternal kinship influence patterns of infant handling in white-faced capuchins, regardless of whether or not they can recognize paternal kin. Am. J. Primatol. 78:659-668, 2016. © 2016 Wiley Periodicals, Inc.

  9. [The phenomenon of gene linkage and recombination in the paternity test].

    PubMed

    Cheng, D L; Yan, P H; Liu, Y; Chen, J

    1999-02-01

    The phenomenon of gene linkage and recombination may nearly be overlooked in paternity test of one single child, but it is likely encountered in paternity test of twin or more. In a case of paternity test, the results of 17 items including eight DNA loci were analyzed and the phenomenon of gene linkage and recombination was discussed in detail. This phenomenon should be brought into necessary attention in the paternity test.

  10. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses

    PubMed Central

    Agochukwu, Nneamaka B.; Solomon, Benjamin D.; Muenke, Maximilian

    2014-01-01

    Purpose More than 60 different mutations have been identified to be causal in syndromic forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth factor receptor 2 gene (FGFR2). The clinical management of syndromic craniosynostosis varies based on the particular causal mutation. Additionally, the diagnosis of a patient with syndromic craniosynostosis is based on the clinical presentation, signs, and symptoms. The understanding of the hallmark features of particular syndromic forms of craniosynostosis leads to efficient diagnosis, management, and long-term prognosis of patients with syndromic craniosynostoses. Methods A comprehensive literature review was done with respect to the major forms of syndromic craniosynostosis and additional less common FGFR-related forms of syndromic craniosynostosis. Additionally, information and data gathered from studies performed in our own investigative lab (lab of Dr. Muenke) were further analyzed and reviewed. A literature review was also performed with regard to the genetic workup and diagnosis of patients with craniosynostosis. Results Patients with Apert syndrome (craniosynostosis syndrome due to mutations in FGFR2) are most severely affected in terms of intellectual disability, developmental delay, central nervous system anomalies, and limb anomalies. All patients with FGFR-related syndromic craniosynostosis have some degree of hearing loss that requires thorough initial evaluations and subsequent follow-up. Conclusions Patients with syndromic craniosynostosis require management and treatment of issues involving multiple organ systems which span beyond craniosynostosis. Thus, effective care of these patients requires a multidisciplinary approach. PMID:22872262

  11. From here to paternity: neural correlates of the onset of paternal behavior in California mice (Peromyscus californicus).

    PubMed

    de Jong, Trynke R; Chauke, Miyetani; Harris, Breanna N; Saltzman, Wendy

    2009-08-01

    In a minority of mammalian species, including humans, fathers play a significant role in infant care. Compared to maternal behavior, the neural and hormonal bases of paternal care are poorly understood. We analyzed behavioral, neuronal and neuropeptide responses towards unfamiliar pups in biparental California mice, comparing males housed with another male ("virgin males") or with a female before ("paired males") or after ("new fathers") the birth of their first litter. New fathers approached pups more rapidly and spent more time engaging in paternal behavior than virgin males. In each cage housing two virgin males, one was spontaneously paternal and one was not. New fathers and paired males spent more time sniffing and touching a wire mesh ball containing a newborn pup than virgin males. Only new fathers showed significantly increased Fos-like immunoreactivity in the medial preoptic nucleus (MPO) following exposure to a pup-containing ball, as compared to an empty ball. Moreover, Fos-LIR in the bed nucleus of the stria terminalis (STMV and STMPM) and caudal dorsal raphe nucleus (DRC) was increased in new fathers, independent of test condition. No differences were found among the groups in Fos-LIR in oxytocinergic or vasopressinergic neurons. These results suggest that sexual and paternal experiences facilitate paternal behavior, but other cues play a role as well. Paternal experience increases Fos-LIR induced by distal pup cues in the MPO, but not in oxytocin and vasopressin neurons. Fatherhood also appears to alter neurotransmission in the BNST and DRC, regions implicated in emotionality and stress-responsiveness.

  12. The Association of Paternal Mood and Infant Temperament: A Pilot Study

    ERIC Educational Resources Information Center

    Dave, Shreya; Nazareth, Irwin; Sherr, Lorraine; Senior, Rob

    2005-01-01

    Maternal depression is associated with adverse child development, but little is known about the effects of paternal depression. This pilot study estimated the prevalence of paternal depression and mood state, and assessed the relationship between paternal mood and infant temperament. The participants in the study were 98 fathers of newborn babies.…

  13. The Doctor's Dilemma: Paternalisms in the Medicolegal History of Assisted Reproduction and Abortion.

    PubMed

    Swanson, Kara W

    2015-01-01

    This article analyzes the comparative history of the law and practice of abortion and assisted reproduction in the United States to consider the interplay between medical paternalism and legal paternalism. It supplements existing critiques of paternalism as harmful to women's equality with the medical perspective, as revealed through the writings of Alan F. Guttmacher, to consider when legal regulation might be warranted.

  14. Transcriptional quiescence of paternal mtDNA in cyprinid fish embryos

    PubMed Central

    Wen, Ming; Peng, Liangyue; Hu, Xinjiang; Zhao, Yuling; Liu, Shaojun; Hong, Yunhan

    2016-01-01

    Mitochondrial homoplasmy signifies the existence of identical copies of mitochondrial DNA (mtDNA) and is essential for normal development, as heteroplasmy causes abnormal development and diseases in human. Homoplasmy in many organisms is ensured by maternal mtDNA inheritance through either absence of paternal mtDNA delivery or early elimination of paternal mtDNA. However, whether paternal mtDNA is transcribed has remained unknown. Here we report that paternal mtDNA shows late elimination and transcriptional quiescence in cyprinid fishes. Paternal mtDNA was present in zygotes but absent in larvae and adult organs of goldfish and blunt-snout bream, demonstrating paternal mtDNA delivery and elimination for maternal mtDNA inheritance. Surprisingly, paternal mtDNA remained detectable up to the heartbeat stage, suggesting its late elimination leading to embryonic heteroplasmy up to advanced embryogenesis. Most importantly, we never detected the cytb RNA of paternal mtDNA at all stages when paternal mtDNA was easily detectable, which reveals that paternal mtDNA is transcriptionally quiescent and thus excludes its effect on the development of heteroplasmic embryos. Therefore, paternal mtDNA in cyprinids shows late elimination and transcriptional quiescence. Clearly, transcriptional quiescence of paternal mtDNA represents a new mechanism for maternal mtDNA inheritance and provides implications for treating mitochondrion-associated diseases by mitochondrial transfer or replacement. PMID:27334806

  15. Paternal Involvement with Children: The Influence of Gender Ideologies

    ERIC Educational Resources Information Center

    Bulanda, Ronald E.

    2004-01-01

    Although prior social science research has established the ability of gender ideologies to influence the domestic division of labor, it has neglected to disentangle their potentially unique influence on paternal involvement with children. Past research examining the influence of gender ideology on parenting behaviors does not acknowledge potential…

  16. Dynamic adjustment of parental care in response to perceived paternity.

    PubMed

    Neff, B D; Gross, M R

    2001-08-07

    Theories of parental care evolution predict that genetic relatedness will be an important variable in the amount of care a parent provides. However, current inferences of relatedness-based parental investment from studies in humans and birds remain challenged. No study has yet demonstrated parental care adjustment in a manner uncomplicated by life-history correlates or experimental design. We now present a unique test that controls for individual life histories and demonstrates paternity-related dynamic adjustments in parental care. Brood-rearing male bluegill sunfish (Lepomis macrochirus) that are cuckolded to a varying degree will either increase or decrease their parental investment in response to changing information on paternity during brood development. Specifically, as parental males detect paternity lost to cuckolders and, hence, a reduction in the value of their brood, they adaptively lower their level of parental care. Conversely, if they detect that their paternity is higher than previously assessed, they adaptively raise their level of parental care. This dynamic adjustment during brood rearing indicates the importance of genetic relatedness in parental investment decisions and provides needed empirical support for theoretical predictions.

  17. Multiple paternities increase genetic diversity of offspring in Brandt's voles.

    PubMed

    Huo, Ying-jun; Wan, Xin-rong; Wolff, Jerry O; Wang, Guiming; Thomas, Shawn; Iglay, Raymond B; Leopold, Bruce D; Liu, Wei

    2010-07-01

    Mating system and philopatry influence the genetic structure of a social group in mammals. Brandt's vole (Lasiopodomys brandtii) lives in social groups year-round and has male biased dispersal, which makes the vole a model system for studies of genetic consequences of mating system and philopatry. This study aimed to test the hypotheses that: (1) multiple paternity (MP) would exist in Brandt's voles, enhance offspring genetic diversity and reduce genetic relatedness between littermates; (2) promiscuity would occur in this species in that males and females mate with multiple partners; and (3) plural breeders of a social group would be genetically related because of philopatry of female juveniles in Brandt's voles. Paternity analysis indicated that MP occurred in 11 (46%) of 24 social groups examined and that promiscuity existed in this species. Multiple paternity litters had twice the offspring genetic diversity and half the average within-litter genetic relatedness of single paternity litters. We also found plural breeding females in six social groups. Average pairwise genetic relatedness of plural breeders ranged from 0.41 to 0.72 in four social groups, suggesting first-order kinship. Future studies need to investigate effects of reproductive skew and MP on population genetic structure of Brandt's voles.

  18. 45 CFR 303.5 - Establishment of paternity.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ..., State birth record agencies, and other entities designated by the State and participating in the State's... services focusing on the period immediately before and after the birth of a child born out-of-wedlock. (ii) The voluntary paternity establishment services program must also be available at the State birth...

  19. Falling Behind? Children's Early Grade Retention after Paternal Incarceration

    ERIC Educational Resources Information Center

    Turney, Kristin; Haskins, Anna R.

    2014-01-01

    A growing literature documents the myriad penalties for children of incarcerated fathers, but relatively little is known about how paternal incarceration contributes to educational outcomes in early and middle childhood. In this article, we use data from the Fragile Families and Child Wellbeing Study to provide the first estimates of the…

  20. Evolution of paternal care in diploid and haplodiploid populations.

    PubMed

    Davies, N G; Gardner, A

    2014-06-01

    W. D. Hamilton famously suggested that the inflated relatedness of full sisters under haplodiploidy explains why all workers in the social hymenoptera are female. This suggestion has not stood up to further theoretical scrutiny and is not empirically supported. Rather, it appears that altruistic sib-rearing in the social hymenoptera is performed exclusively by females because this behaviour has its origins in parental care, which was performed exclusively by females in the ancestors of this insect group. However, haplodiploidy might still explain the sex of workers if this mode of inheritance has itself been responsible for the rarity of paternal care in this group. Here, we perform a theoretical kin selection analysis to investigate the evolution of paternal care in diploid and haplodiploid populations. We find that haplodiploidy may either inhibit or promote paternal care depending on model assumptions, but that under the most plausible scenarios it promotes - rather than inhibits - paternal care. Our analysis casts further doubt upon there being a causal link between haplodiploidy and eusociality.

  1. 45 CFR 303.5 - Establishment of paternity.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ..., State birth record agencies, and other entities designated by the State and participating in the State's... services focusing on the period immediately before and after the birth of a child born out-of-wedlock. (ii) The voluntary paternity establishment services program must also be available at the State birth...

  2. Maternal Depression, Paternal Psychopathology, and Toddlers' Behavior Problems

    ERIC Educational Resources Information Center

    Dietz, Laura J.; Jennings, Kay Donahue; Kelley, Sue A.; Marshal, Michael

    2009-01-01

    This article examined the effects of maternal depression during the postpartum period (Time 1) on the later behavior problems of toddlers (Time 3) and tested if this relationship was moderated by paternal psychopathology during toddlers' lives and/or mediated by maternal parenting behavior observed during mother-child interaction (Time 2). Of the…

  3. Paternalism & Deaf People: An Open Letter to Mme. Umuvyeyi.

    ERIC Educational Resources Information Center

    Lane, Harlan

    1988-01-01

    By describing the paternalism inherent in the parallels between the history of Burundi and that of deaf people, a letter to a woman in Burundi with five deaf children attempts to persuade her to allow her youngest to further her education in the United States. (LMO)

  4. Fine mapping of paternal sorting of mitochondria (psm) in cucumber

    USDA-ARS?s Scientific Manuscript database

    Cucumber is unique among plants because its mitochondrial DNA shows paternal transmission, is one of the largest known among all plants, due largely to short repetitive DNA motifs, and undergoes recombination among repeats to produce rearranged mitochondrial DNAs associated with strongly mosaic (MSC...

  5. Fine mapping of paternal sorting of mitochondria (Psm) in cucumber

    USDA-ARS?s Scientific Manuscript database

    Cucumber is unique among plants because its mitochondrial DNA shows paternal transmission, is one of the largest known among all plants, due largely to short repetitive DNA motifs, and recombination among these repeats produces rearranged mitochondrial DNAs associated with strongly mosaic (MSC) phen...

  6. Paternity: social responsibility of man's role as provider.

    PubMed

    Freitas, Waglânia de Mendonça Faustino e; Silva, Ana Tereza Medeiros Cavalcante da; Coelho, Edméia de Almeida Cardoso; Guedes, Rebeca Nunes; Lucena, Kerle Dayana Tavares de; Costa, Ana Paula Teixeira

    2009-02-01

    To analyze meanings attributed to paternity by men who are fathers. Study with a qualitative approach and gender-theory focus, performed in the city of João Pessoa, Northeastern Brazil, in 2003. A total of ten men, whose children had been cared for in the pediatric outpatient clinic of a university hospital, participated in the study. Information analyzed was obtained with semi-structured interviews. Critical discourse analysis technique was employed to analyze participants' speech. DISCOURSE ANALYSIS: Participants in the study viewed paternity as a new social role, more closely associated with material support for the family than the dimension of affective involvement with the child. However, participants experienced a transition process where the traditional father lived with those whose affective dimension of paternity was found to be the main concern of being a father. The meaning and concrete exercise of paternity were found in an area of responsibilities that predominantly reproduces the traditional father, but also recreates the father's role, including the affective dimension.

  7. Father Involvement: The Importance of Paternal Solo Care

    ERIC Educational Resources Information Center

    Wilson, Katherine R.; Prior, Margot R.

    2010-01-01

    Paternal time spent caring for children alone is qualitatively different from time together mediated by the presence of the mother and may be particularly relevant to father-child relations. Many fathers spend minimal time alone with their children. Indeed, it is still commonly referred to as "babysitting". We explored the concept of Solo Care as…

  8. No fallacies in the formulation of the paternity index

    PubMed Central

    Baur, M. P.; Elston, R. C.; Gürtler, H.; Henningsen, K.; Hummel, K.; Matsumoto, H.; Mayr, W.; Moris, J. W.; Niejenhuis, L.; Polesky, H.; Salmon, D.; Valentin, J.; Walkers, R.

    1986-01-01

    In a recent publication, Li and Chakravarti claim to have shown that the paternity index is not a likelihood ratio. They present a method of estimating the prior probability of paternity from a sample of previous court cases on the basis of exclusions and nonexclusions. They propose calculating the posterior probability on the basis of this estimated prior and the test result expressed as exclusion/nonexclusion. Their claim is wrong—the paternity index is a likelihood-ratio, that is, the ratio of the likelihood of the observation conditional on the two mutually exclusive hypotheses. Their proposed method of estimating the prior has been long known, has been applied to several samples, and is inferior (in terms of variance of the estimate) to maximum likelihood estimation based on all the phenotypic information available. Their proposed “new method” of calculating a posterior probability is based on the use of a less informative likelihood ratio 1/(1 – PE) instead of Gürtler's fully informative paternity index X/Y (Acta Med Leg Soc Liege 9:83–93, 1956), but is otherwise indentical to the Bayesian approach originally introduced by Essen-Möller in 1938. PMID:3766545

  9. Mechanisms and consequences of paternally transmitted chromosomal abnormalities

    SciTech Connect

    Marchetti, F; Wyrobek, A J

    2005-04-05

    Paternally transmitted chromosomal damage has been associated with pregnancy loss, developmental and morphological defects, infant mortality, infertility, and genetic diseases in the offspring including cancer. There is epidemiological evidence linking paternal exposure to occupational or environmental agents with an increased risk of abnormal reproductive outcomes. There is also a large body of literature on germ cell mutagenesis in rodents showing that treatment of male germ cells with mutagens has dramatic consequences on reproduction producing effects such as those observed in human epidemiological studies. However, we know very little about the etiology, transmission and early embryonic consequences of paternally-derived chromosomal abnormalities. The available evidence suggests that: (1) there are distinct patterns of germ cell-stage differences in the sensitivity of induction of transmissible genetic damage with male postmeiotic cells being the most sensitive; (2) cytogenetic abnormalities at first metaphase after fertilization are critical intermediates between paternal exposure and abnormal reproductive outcomes; and, (3) there are maternally susceptibility factors that may have profound effects on the amount of sperm DNA damage that is converted into chromosomal aberrations in the zygote and directly affect the risk for abnormal reproductive outcomes.

  10. Fathers and Asthma Care: Paternal Involvement, Beliefs, and Management Skills

    PubMed Central

    Masek, Bruce; Barreto, Esteban; Baer, Lee; Lapey, Allen; Budge, Eduardo; McQuaid, Elizabeth L.

    2015-01-01

    Objective To compare asthma care roles of maternal and paternal caregivers, and examine associations between caregiver involvement and the outcomes of adherence, morbidity, and parental quality of life (QoL). Methods Mothers and fathers in 63 families of children, ages 5–9 years, with persistent asthma completed semistructured interviews and questionnaires. Adherence was measured via electronic monitoring. Paired t tests compared parental asthma care roles, and analysis of covariance, controlling for socioeconomic status, evaluated associations of asthma outcomes with caregiver involvement scores. Results Mothers had higher scores on measures of involvement, beliefs in medication necessity, and on four subscales of the Family Asthma Management System Scale interview (Asthma Knowledge, Relationship with Provider, Symptom Assessment, and Response to Symptoms). Maternal QoL was lowest when both maternal and paternal involvement was high. Paternal involvement was associated with increased morbidity. Conclusions There is room for enhancement of fathers’ asthma care roles. Higher levels of paternal involvement may be driven by family need. PMID:25922295

  11. Testosterone and paternal care in East African foragers and pastoralists.

    PubMed

    Muller, Martin N; Marlowe, Frank W; Bugumba, Revocatus; Ellison, Peter T

    2009-01-22

    The 'challenge hypothesis' posits that testosterone facilitates reproductive effort (investment in male-male competition and mate-seeking) at the expense of parenting effort (investment in offspring and mates). Multiple studies, primarily in North America, have shown that men in committed relationships, fathers, or both maintain lower levels of testosterone than unpaired men. Data from non-western populations, however, show inconsistent results. We hypothesized that much of this cross-cultural variation can be attributed to differential investment in mating versus parenting effort, even among married fathers. Here, we directly test this idea by comparing two neighbouring Tanzanian groups that exhibit divergent styles of paternal involvement: Hadza foragers and Datoga pastoralists. We predicted that high levels of paternal care by Hadza fathers would be associated with decreased testosterone in comparison with non-fathers, and that no such difference between fathers and non-fathers would be evident in Datoga men, who provide minimal direct paternal care. Twenty-seven Hadza men and 80 Datoga men between the ages of 17 and 60 provided morning and afternoon saliva samples from which testosterone was assayed. Measurements in both populations confirmed these predictions, adding further support to the hypothesis that paternal care is associated with decreased testosterone production in men.

  12. Those They Leave behind: Paternal Incarceration and Maternal Instrumental Support

    ERIC Educational Resources Information Center

    Turney, Kristin; Schnittker, Jason; Wildeman, Christopher

    2012-01-01

    As the American imprisonment rate has risen, researchers have become increasingly concerned about the implications of mass imprisonment for family life. The authors extend this research by examining how paternal incarceration is linked to perceived instrumental support among the mothers of inmates' children. Results from the Fragile Families and…

  13. Paternal Psychopathology: Relationship to Adolescent Substance Abuse and Deviant Behavior.

    ERIC Educational Resources Information Center

    Brown, Sandra A.; And Others

    Research has documented the genetic contribution of paternal alcoholism and Antisocial Personality Disorder as risk factors for adolescent deviant behavior, including substance abuse. Teens (n=147) between the ages of 12 and 19 years and their parents participated in the study. The sample consisted of 74 substance abusing teens/families drawn from…

  14. Fathers and Asthma Care: Paternal Involvement, Beliefs, and Management Skills.

    PubMed

    Friedman, Deborah; Masek, Bruce; Barreto, Esteban; Baer, Lee; Lapey, Allen; Budge, Eduardo; McQuaid, Elizabeth L

    2015-09-01

    To compare asthma care roles of maternal and paternal caregivers, and examine associations between caregiver involvement and the outcomes of adherence, morbidity, and parental quality of life (QoL). Mothers and fathers in 63 families of children, ages 5-9 years, with persistent asthma completed semistructured interviews and questionnaires. Adherence was measured via electronic monitoring. Paired t tests compared parental asthma care roles, and analysis of covariance, controlling for socioeconomic status, evaluated associations of asthma outcomes with caregiver involvement scores. Mothers had higher scores on measures of involvement, beliefs in medication necessity, and on four subscales of the Family Asthma Management System Scale interview (Asthma Knowledge, Relationship with Provider, Symptom Assessment, and Response to Symptoms). Maternal QoL was lowest when both maternal and paternal involvement was high. Paternal involvement was associated with increased morbidity. There is room for enhancement of fathers' asthma care roles. Higher levels of paternal involvement may be driven by family need. © The Author 2015. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  15. Paternal age and twinning in the Jerusalem Perinatal Study

    PubMed Central

    Kleinhaus, Karine; Perrin, Mary C.; Manor, O; Friedlander, Yehiel; Calderon-Margalit, Ronit; Harlap, Susan; Malaspina, Dolores

    2008-01-01

    Objective To investigate whether incidence of twin deliveries is related to father's age, independently of mother's age, and whether it differs for same-sex or opposite-sex twin sets. Study Design In a program of research on effects of paternal age, this study used data from a prospective cohort of 92,408 offspring born in Jerusalem from 1964-1976. Of the 91,253 deliveries in the Jerusalem Perinatal Study, 1,115 were twin deliveries. The data were analyzed with General Estimate Equations to inform unconditional logistic regression. Results After controlling for maternal age, Odds Ratios (OR) and 95% Confidence Intervals (95% CI) associated with father's ages 25-34 and 35+ were 1.3 (1.1, 1.7) and 1.5 (1.2, 2.1) respectively, compared with fathers <25 years old. The effect of maternal age was partly explained by paternal age. The ORs for opposite-sex twin sets and male-male twin sets increased slightly with paternal age, while the OR for same-sex and female-female twin decreased. Conclusion Studies of twins are used to estimate effects of genes and environment in a variety of diseases. Our findings highlight the need to consider paternal as well as maternal age when analyzing data on twins to explore etiology of diseases. PMID:18771839

  16. Paternity testing in an autotetraploid alfalfa breeding polycross

    USDA-ARS?s Scientific Manuscript database

    Determining unknown parentage in autotetraploid alfalfa (Medicago sativa L.) (2n = 4x = 32) can improve breeding gains. Exclusion analysis based paternity testing SAS code is presented, amenable to genotyping errors, for autotetraploid species utilizing co-dominant molecular markers with ambiguous d...

  17. Maternal and Paternal Depressive Symptoms as Predictors of Toddler Adjustment

    ERIC Educational Resources Information Center

    Weinfield, Nancy S.; Ingerski, Lisa; Moreau, Stacey Coffey

    2009-01-01

    In this study we explored the relation between maternal and paternal depressive symptoms and toddler adjustment in a community sample, testing direct, additive, and interactive models of parental depressive symptoms and child adjustment. Participants were 49 families with 30-month-old children. Data were collected on maternal and paternal…

  18. Paternal Factors and Schizophrenia Risk: De Novo Mutations and Imprinting

    PubMed Central

    Malaspina, Dolores

    2010-01-01

    There is a strong genetic component for schizophrenia risk, but it is unclear how the illness is maintained in the population given the significantly reduced fertility of those with the disorder. One possibility is that new mutations occur in schizophrenia vulnerability genes. If so, then those with schizophrenia may have older fathers, because advancing paternal age is the major source of new mutations in humans. This review describes several neurodevelopmental disorders that have been associated with de novo mutations in the paternal germ line and reviews data linking increased schizophrenia risk with older fathers. Several genetic mechanisms that could explain this association are proposed, including paternal germ line mutations, trinucleotide repeat expansions, and alterations in genetic imprinting in one or several genes involved in neurodevelopment. Animal models may be useful in exploring these and other explanations for the paternal age effect and they may provide a novel approach for gene identification. Finally, it is proposed that environmental exposures of the father, as well as those of the mother and developing fetus, may be relevant to the etiology of schizophrenia. PMID:11596842

  19. Genetic Analyses of Sorting of Paternally Transmitted Mitochondrial DNA

    USDA-ARS?s Scientific Manuscript database

    The organelles are maternally transmitted in the vast majority of eukaryotes. However paternal transmission of plastids and mitochondria occurs rarely in plants. Cucumber is a unique model plant for organellar genetics because its three genomes show differential transmission: maternal for chlorop...

  20. Paternal inheritance of the primary sex ratio in a copepod.

    PubMed

    Voordouw, M J; Robinson, H E; Anholt, B R

    2005-09-01

    Uniparentally inherited genetic elements are under strong selection to manipulate sex determination in their host and shift the host sex ratio towards the transmitting sex. For any sex-ratio trait, lineage analysis and quantitative genetics are important tools for characterizing the mode of inheritance (biparental vs. maternal vs. paternal) thereby narrowing the field of possible sex-determining mechanisms (e.g. polygenic, sex chromosomes with meiotic drive, cytoplasmic microorganisms). The primary sex ratio of the harpacticoid copepod, Tigriopus californicus is often male-biased and is highly variable among full sib families. We found that this extra-binomial variation for the primary sex ratio is paternally but not maternally transmitted in T. californicus. Paternal transmission of the primary sex ratio has been well documented in the haplo-diploid hymenoptera but is relatively rare in diplo-diploid organisms. If the sex-ratio trait is paternally transmitted in other closely related harpacticoid copepods it would explain why male biased primary sex ratios are so common in this group.

  1. Role-Playing for Inhibited Students in Paternal Communities.

    ERIC Educational Resources Information Center

    Al-Saadat, Abdullah I.; Afifi, Elhami A.

    1997-01-01

    Highlights classroom role playing in Saudi Arabian classrooms as a psychological aid that fosters self-confidence in inhibited, timid, hesitant, and passive students and relieves them of their paternal communicative limitations. Proposes an overall strategy for role-playing as an effective communicative activity that teachers can exploit to help…

  2. Management and counseling of the male with advanced paternal age.

    PubMed

    Jennings, Michael O; Owen, Ryan C; Keefe, David; Kim, Edward D

    2017-02-01

    Increasing percentages of children are being born to older fathers. This has resulted in concerns about the potential adverse effects of advanced paternal age. To help clinicians counsel couples, a systemic review was performed to attempt to address questions that these couples may ask: Should routine sperm testing be performed in older males? Should preimplantation genetic diagnosis (PGD) be performed? How do providers counsel patients about risk? Should young males freeze sperm if they plan to delay paternity? Using the terms "advanced paternal age", "semen testing", "preimplantation genetic diagnosis/screening", and "cryopreservation", a comprehensive search was performed in PubMed and the Cochrane Library, and numerous international societal guidelines were reviewed. In total, 42 articles or guidelines were reviewed. There were no limits placed on the timing of the articles. Thirty articles were found to be relevant and beneficial to answering the above questions. Each question was answered separately by the supporting literature. While primary research exists to support the role of semen testing, PGD/preimplantation genetic screening, and sperm banking in males who may be affected by advancing age, comprehensive studies on the possible clinical benefit of these interventions have yet to be performed. As a result, societal guidelines have yet to incorporate distinct best-practice guidelines on advanced paternal age.

  3. Maternal Depression, Paternal Psychopathology, and Toddlers' Behavior Problems

    ERIC Educational Resources Information Center

    Dietz, Laura J.; Jennings, Kay Donahue; Kelley, Sue A.; Marshal, Michael

    2009-01-01

    This article examined the effects of maternal depression during the postpartum period (Time 1) on the later behavior problems of toddlers (Time 3) and tested if this relationship was moderated by paternal psychopathology during toddlers' lives and/or mediated by maternal parenting behavior observed during mother-child interaction (Time 2). Of the…

  4. 25 CFR 11.609 - Determination of paternity and support.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ....609 Indians BUREAU OF INDIAN AFFAIRS, DEPARTMENT OF THE INTERIOR LAW AND ORDER COURTS OF INDIAN OFFENSES AND LAW AND ORDER CODE Domestic Relations § 11.609 Determination of paternity and support. The... inheritance by the Court of Indian Offenses or by the Department of the Interior. ...

  5. 25 CFR 11.609 - Determination of paternity and support.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ....609 Indians BUREAU OF INDIAN AFFAIRS, DEPARTMENT OF THE INTERIOR LAW AND ORDER COURTS OF INDIAN OFFENSES AND LAW AND ORDER CODE Domestic Relations § 11.609 Determination of paternity and support. The... inheritance by the Court of Indian Offenses or by the Department of the Interior. ...

  6. 25 CFR 11.609 - Determination of paternity and support.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ....609 Indians BUREAU OF INDIAN AFFAIRS, DEPARTMENT OF THE INTERIOR LAW AND ORDER COURTS OF INDIAN OFFENSES AND LAW AND ORDER CODE Domestic Relations § 11.609 Determination of paternity and support. The... inheritance by the Court of Indian Offenses or by the Department of the Interior. ...

  7. 25 CFR 11.609 - Determination of paternity and support.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ....609 Indians BUREAU OF INDIAN AFFAIRS, DEPARTMENT OF THE INTERIOR LAW AND ORDER COURTS OF INDIAN OFFENSES AND LAW AND ORDER CODE Domestic Relations § 11.609 Determination of paternity and support. The... inheritance by the Court of Indian Offenses or by the Department of the Interior. ...

  8. 25 CFR 11.609 - Determination of paternity and support.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ....609 Indians BUREAU OF INDIAN AFFAIRS, DEPARTMENT OF THE INTERIOR LAW AND ORDER COURTS OF INDIAN OFFENSES AND LAW AND ORDER CODE Domestic Relations § 11.609 Determination of paternity and support. The... inheritance by the Court of Indian Offenses or by the Department of the Interior. ...

  9. Paternity testing under the cloak of recreational genetics.

    PubMed

    Moray, Nathalie; Pink, Katherina E; Borry, Pascal; Larmuseau, Maarten Hd

    2017-03-08

    Direct-to-consumer (DTC) internet companies are selling widely advertised and highly popular genetic ancestry tests to the broad public. These tests are often classified as falling within the scope of so-called 'recreational genetics', but little is known about the impact of using these services. In this study, a particular focus is whether minors (and under what conditions) should be able to participate in the use of these DTC tests. Current ancestry tests are easily able to reveal whether participants are related and can, therefore, also reveal misattributed paternity, with implications for the minors and adults involved in the testing. We analysed the publicly available privacy policies and terms of services of 43 DTC genetic ancestry companies to assess whether minors are able to participate in testing DTC genetic ancestry, and also whether and how companies ethically account for the potential of paternity inference. Our results indicated that the majority of DTC genetic ancestry testing companies do not specifically address whether minors are able to participate in testing. Furthermore, the majority of the policies and terms of services fail to mention the vulnerability of minors and family members in receiving unexpected information, in particular, in relation to (misattributed) paternity. Therefore, recreational genetics carries both the risk of unintentionally revealing misidentified paternity, and also the risk that fathers will deliberately use these services to test their children's paternity without revealing their intentions to the mother or any other third party.European Journal of Human Genetics advance online publication, 8 March 2017; doi:10.1038/ejhg.2017.31.

  10. Genetic mapping of paternal sorting of mitochondria in cucumber.

    PubMed

    Calderon, Claudia I; Yandell, Brian S; Havey, Michael J

    2012-06-01

    Mitochondria are organelles that have their own DNA; serve as the powerhouses of eukaryotic cells; play important roles in stress responses, programmed cell death, and ageing; and in the vast majority of eukaryotes, are maternally transmitted. Strict maternal transmission of mitochondria makes it difficult to select for better-performing mitochondria, or against deleterious mutations in the mitochondrial DNA. Cucumber is a useful plant for organellar genetics because its mitochondria are paternally transmitted and it possesses one of the largest mitochondrial genomes among all eukaryotes. Recombination among repetitive motifs in the cucumber mitochondrial DNA produces rearrangements associated with strongly mosaic (MSC) phenotypes. We previously reported nuclear control of sorting among paternally transmitted mitochondrial DNAs. The goal of this project was to map paternal sorting of mitochondria as a step towards its eventual cloning. We crossed single plants from plant introduction (PI) 401734 and Cucumis sativus var. hardwickii and produced an F(2) family. A total of 425 F(2) plants were genotyped for molecular markers and testcrossed as the female with MSC16. Testcross families were scored for frequencies of wild-type versus MSC progenies. Discrete segregations for percent wild-type progenies were not observed and paternal sorting of mitochondria was therefore analyzed as a quantitative trait. A major quantitative trait locus (QTL; LOD >23) was mapped between two simple sequence repeats encompassing a 459-kb region on chromosome 3. Nuclear genes previously shown to affect the prevalence of mitochondrial DNAs (MSH1, OSB1, and RECA homologs) were not located near this major QTL on chromosome 3. Sequencing of this region from PI 401734, together with improved annotation of the cucumber genome, should result in the eventual cloning of paternal sorting of mitochondria and provide insights about nuclear control of organellar-DNA sorting.

  11. [Paternity exclusion tests in the Department of Forensic Medicine, University of Medical Sciences in Poznan].

    PubMed

    Koralewska-Kordel, Małgorzata; Kordel, Krzysztof; Przybylski, Zygmunt; Wiśniewski, Sławomir A

    2006-01-01

    The study comprises the analysis of expert's hemogenetic reports carried out in the Department of Forensic Medicine, University of Medical Sciences in Poznan, in the years 1980-2004 and associated with paternity determination or exclusion. In the analyzed period, the authors established 1064 cases of paternity exclusion in serological tests, 97 paternity exclusions in the HLA examinations, and 129 cases of paternity exclusions processed in DNA testing. On the base of gene frequencies, the theoretical chance of paternity exclusion was determined for every test. The significant usefulness of DNA testing in legal processes did not cause an increase in the percentage of paternity exclusions. Moreover, the authors observed a significant decrease in the number of paternity exclusions in comparison with results of serological tests (from 24.25% to 19.43%). With the drop in the number of births, the number of expert's reports significantly decreased.

  12. Paternal Depressive Symptoms and Adolescent Functioning: The Moderating Effect of Gender and Father Hostility

    PubMed Central

    Reeb, Ben T.; Conger, Katherine J.; Wu, Ed Y.

    2009-01-01

    This study examined the longitudinal relationship between paternal depressive symptoms, paternal hostility, and adolescent functioning in a community sample of 451 families. Paternal depressive symptoms were a strong predictor of adolescent outcome, even after controlling for family demographic variables, maternal depressive symptoms, and previous adolescent symptoms. Adolescent gender and perception of paternal hostility moderated this association such that females reporting high paternal hostility were particularly vulnerable to the adverse effects of paternal depressive symptoms. Maternal and paternal depressive symptoms had an additive, rather than interactive, effect on adolescent functioning. These results contribute to our knowledge of the interpersonal processes by which depression runs in families and highlight the importance of including fathers in developmental research on adolescent internalizing problems. PMID:20671810

  13. Technological paternalism: on how medicine has reformed ethics and how technology can refine moral theory.

    PubMed

    Hofmann, Bjørn

    2003-07-01

    The objective of this article is to investigate ethical aspects of technology through the moral term "paternalism". The field of investigation is medicine. The reason for this is twofold. Firstly, "paternalism" has gained moral relevance through modern medicine, where physicians have been accused of behaving paternalistic and threatening patients' autonomy. Secondly, medicine is a brilliant area to scrutinise the evaluative aspects of technology. It is argued that paternalism is a morally relevant term for the ethics of technology, but that its traditional conception is not adequate to address the challenges of modern technology. A modification towards a "technological paternalism" is necessary. That is, "technological paternalism" is a fruitful term in the ethics of technology. Moreover, it is suited to point out the deficiencies of the traditional concept of paternalism and to reform and vitalise the conception of paternalism in ethics in order to handle the challenges of technology.

  14. Prader-Willi syndrome.

    PubMed

    Cassidy, Suzanne B; Driscoll, Daniel J

    2009-01-01

    Prader-Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental retardation, hypogonadism, growth hormone insufficiency causing short stature for the family, early childhood-onset hyperphagia and obesity, characteristic appearance, and behavioral and sometimes psychiatric disturbance. Many more minor characteristics can be helpful in diagnosis and important in management. PWS is an example of a genetic condition involving genomic imprinting. It can occur by three main mechanisms, which lead to absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and imprinting defect.

  15. Maternal uniparental disomy of chromosome 14 in a boy with t(14q14q) associated with a paternal t(13q14q)

    SciTech Connect

    Tomkins, D.J.; Waye, J.S.; Whelan, D.T.

    1994-09-01

    An 11-year-old boy was referred for chromosomal analysis because of precocious development and behavioral problems suggestive of the fragile X syndrome. The cytogenetic fragile X studies were normal, but a routine GTG-banded karyotype revealed an abnormal male karyotype with a Robertsonian translocation between the two chromosome 14`s: 46,XY,t(14q14q). Paternal karyotyping revealed another abnormal karyotype: 46,XY,t(13q14q). A brother had the same karyotype as the father; the mother was deceased. In order to determine if the apparently balanced t(14q14q) in the proband might be the cause of the clinical findings, molecular analysis of the origin of the chromosome 14`s was initiated. Southern blotting and hybridization with D4S13 showed that the proband had two copies of one maternal allele which was shared by his brother. The brother`s second allele corresponded to one of the paternal alleles; the proband had no alleles from the father. Analysis of four other VNTRs demonstrated the probability of paternity to be greater than 99%. Thus, the t(14q14q) was most likely composed of two maternal chromosome 14`s. Further characterization of the t(14q14q) by dinucleotide repeat polymorphic markers is in progress to determine whether it has arisen from maternal isodisomy or heterodisomy. Several cases of uniparental disomy for chromosome 14 have been reported recently. Paternal disomy appears to be associated with more severe congenital anomalies and mental retardation, whereas maternal disomy may be associated with premature puberty and minimal intellectual impairment. The origin of the t(14q14q) in the present case may be related to the paternal translocation, as the segregation of the t(13q14q) in meiosis could lead to sperm that are nullisomic for chromosome 14.

  16. The ethical debate on present day paternity testing practices.

    PubMed

    Mertens, G

    2006-01-01

    The last years, the number of paternity tests on buccal swabs sold over the internet as "test kits", has steeply increased. The commercial providers of these services facilitate controversial practices, including clandestine sampling at home, anonymous sending off for analysis, motherless testing and using "stolen" personal objects containing biological material (combs, cigarette butts). This has led to concern on the consequences on the family unit--especially the child--which may suffer emotionally, physically and financially. In reaction, legal initiatives are appearing throughout Europe. The UK Human Genetics Commission has advised that the non-consensual obtaining and analysis of personal genetic information should be a new criminal offence. The German Federal Court of Justice has ruled that paternity tests performed without the mother's knowledge are inadmissible as evidence in lawsuits. French law strictly forbids the application of DNA testing without the involvement of the court system. In Belgium, a proposal for law has been laid down where the offering to

  17. Maternal Depression, Paternal Psychopathology, and Toddlers’ Behavior Problems

    PubMed Central

    Dietz, Laura J.; Jennings, Kay Donahue; Kelley, Sue A.; Marshal, Michael

    2013-01-01

    This article examined the effects of maternal depression during the postpartum period (Time 1) on the later behavior problems of toddlers (Time 3) and tested if this relationship was moderated by paternal psychopathology during toddlers’ lives and/or or mediated by maternal parenting behavior observed during mother–child interaction (Time 2). Of the 101 mothers who participated in this longitudinal study with their toddlers, 51 had never experienced an episode of Major Depressive Disorder (MDD) and 50 had experienced an episode of MDD during the first 18 months of their toddlers’ lives. Maternal depression at Time 1 was significantly associated with toddlers’ externalizing and internalizing behavior problems only when paternal psychopathology was present. As predicted, maternal negativity at Time 2 was found to mediate the relationship between maternal depression at Time 1 and toddlers’ externalizing behavior problems at Time 3. PMID:19130357

  18. Patient Care and Paternalism: Dilemmas of Family Practice

    PubMed Central

    Wilbush, Joel

    1990-01-01

    From the clinical records of a country doctor, this vignette concerns a teenaged girl who, having refused treatment, is persuaded, under near duress, to accept a regimen that her family physician considers best for her. Although apparently arrogant paternalism, the practitioner's approach proves, on reflection, to possess considerable merit. The author discusses the ethical principles that have led to rejection of paternalism in the West. Formulated as absolute maxims, they soon require, like all absolutes, a multitude of explanations and additions. Some logical, social, and other “exceptions” are briefly mentioned, because the old doctor's intuitive actions seem to have oddly coincided with a number of them. Yet the questions remain: Should this medical practitioner have become so deeply involved? Should he have interfered with his patient's autonomy to the extent he did? Was he justified? PMID:11659246

  19. Multiple paternity in Rana dalmatina, a monogamous territorial breeding anuran.

    PubMed

    Lodé, Thierry; Lesbarrères, David

    2004-01-01

    Polyandry and sperm competition in anurans have rarely been documented. We investigated the genetic paternity inferred from allozyme variations in 650 tadpoles from four natural ponds in a territorial breeding anuran, Rana dalmatina. Multiple paternity was demonstrated, although R. dalmatina is regarded as a monogamous species. Polyandrous mating was not a common event, occurring only in 17.9% of clutches, with no significant differences among clutches. The proportions of tadpoles fathered by a second male did not significantly differ among ponds, showing that multipaternity was not restricted to a single site. Such a polyandry may result from synchronous multiple amplexus and should reduce the heterozygote deficit related to the breeding-pond fidelity usually exhibited by most anurans.

  20. Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort

    PubMed Central

    Feinberg, Jason I; Bakulski, Kelly M; Jaffe, Andrew E; Tryggvadottir, Rakel; Brown, Shannon C; Goldman, Lynn R; Croen, Lisa A; Hertz-Picciotto, Irva; Newschaffer, Craig J; Daniele Fallin, M; Feinberg, Andrew P

    2015-01-01

    Background: Epigenetic mechanisms such as altered DNA methylation have been suggested to play a role in autism, beginning with the classical association of Prader-Willi syndrome, an imprinting disorder, with autistic features. Objectives: Here we tested for the relationship of paternal sperm DNA methylation with autism risk in offspring, examining an enriched-risk cohort of fathers of autistic children. Methods: We examined genome-wide DNA methylation (DNAm) in paternal semen biosamples obtained from an autism spectrum disorder (ASD) enriched-risk pregnancy cohort, the Early Autism Risk Longitudinal Investigation (EARLI) cohort, to estimate associations between sperm DNAm and prospective ASD development, using a 12-month ASD symptoms assessment, the Autism Observation Scale for Infants (AOSI). We analysed methylation data from 44 sperm samples run on the CHARM 3.0 array, which contains over 4 million probes (over 7 million CpG sites), including 30 samples also run on the Illumina Infinium HumanMethylation450 (450K) BeadChip platform (∼485 000 CpG sites). We also examined associated regions in an independent sample of post-mortem human brain ASD and control samples for which Illumina 450K DNA methylation data were available. Results: Using region-based statistical approaches, we identified 193 differentially methylated regions (DMRs) in paternal sperm with a family-wise empirical P-value [family-wise error rate (FWER)] <0.05 associated with performance on the Autism Observational Scale for Infants (AOSI) at 12 months of age in offspring. The DMRs clustered near genes involved in developmental processes, including many genes in the SNORD family, within the Prader-Willi syndrome gene cluster. These results were consistent among the 75 probes on the Illumina 450K array that cover AOSI-associated DMRs from CHARM. Further, 18 of 75 (24%) 450K array probes showed consistent differences in the cerebellums of autistic individuals compared with controls. Conclusions

  1. [Anthropological studies as a possible tool in disputed paternity cases].

    PubMed

    Bujdosó, G

    1976-04-01

    Author on the base of the material investigated in the Department of Forensic Medicine of Semmelweis Medical University discusses importance of anthropological investigations as a valuable, additional to serology test. Data obtained by the investigation of 2000 families demonstrate the hereditary features and their value as an evidence in a filiation cases. Author emphasizes the importance of the chromosome-investigations as one of the most reliable methods in paternity cases.

  2. Oxetane synthesis through the Paternò-Büchi reaction.

    PubMed

    D'Auria, Maurizio; Racioppi, Rocco

    2013-09-16

    The Paternò-Büchi reaction is a photochemical reaction between a carbonyl compound and an alkene to give the corresponding oxetane. In this review the mechanism of the reaction is discussed. On this basis the described use in the reaction with electron rich alkenes (enolethers, enol esters, enol silyl ethers, enanines, heterocyclic compounds has been reported. The stereochemical behavior of the reaction is particularly stressed. We pointed out the reported applications of this reaction to the synthesis of naturally occuring compounds.

  3. Male courtship attractiveness and paternity success in Photinus greeni fireflies.

    PubMed

    Demary, Kristian C; Lewis, Sara M

    2007-02-01

    Although female mate choice and male sperm competition have separately attracted much attention, few studies have addressed how precopulatory and postcopulatory episodes of sexual selection might interact to drive the evolution of male traits. In Photinus fireflies, females preferentially respond to males based on their bioluminescent courtship signals, and females gain direct benefits through male nuptial gifts acquired during multiple matings over several nights. We experimentally manipulated matings of P. greeni fireflies to test the hypothesis that postcopulatory paternity success might be biased toward males that are more attractive during courtship interactions. We first measured male courtship attractiveness to individual females using field behavioral assays. Females were then assigned to two double-mating treatments: (1) least attractive second male-females were first mated with their most attractive male, followed by their least attractive male, or (2) most attractive second male-females mated with males in reverse order. Larval offspring produced by each female following these double matings were genotyped using random amplified polymorphic DNA (RAPD) markers, and male paternity was determined. Contrary to prediction, firefly males that were more attractive to females based on their bioluminescent courtship displays subsequently showed significantly lower paternity, reflecting possible male trade-offs or sexual conflict. Differences in male paternity were not related to male body condition, testes or accessory gland mass, or to variation in female spermathecal size. Additionally, this study suggests that changes in phenotypic selection gradients may occur during different reproductive stages. These results indicate that it is crucial for future studies on sexual selection in polyandrous species to integrate both precopulatory and postcopulatory episodes to fully understand the evolution of male traits.

  4. Adolescent obesity and maternal and paternal sensitivity and monitoring.

    PubMed

    Neal Davis, R; Ashba, Jacqueline; Appugliese, Danielle P; Kaciroti, Niko; Corwyn, Robert F; Bradley, Robert H; Lumeng, Julie C

    2011-06-01

    To determine if adolescent obesity is associated with parenting characterized by lower sensitivity and lower monitoring of adolescent activities. We used data from 744 adolescents in the National Institute of Child Health and Human Development Study of Early Child Care and Youth Development. Height and weight were measured at age 15½ years and obesity defined as body mass index ≥ 95th percentile for age and sex. Maternal and paternal sensitivity were assessed by direct observation of a parent-adolescent interaction task. Maternal and paternal monitoring were assessed by parent report. Lower sensitivity and lower monitoring were each defined as the lowest quartiles. Two separate multivariate logistic regression models were created to evaluate, individually for mothers and fathers, associations of sensitivity and monitoring with adolescent obesity, controlling for adolescent sex and race, family income-to-needs ratio, and parental obesity. Fourteen percent of the adolescents were obese. Lower sensitivity was associated with adolescent obesity in the maternal parenting model (adjusted odds ratio [AOR] 2.36, 95% confidence interval [CI] 1.44-3.86, n = 709), but not paternal parenting model (AOR = 0.79, 95% CI 0.38-1.63, n = 460). Neither maternal nor paternal monitoring was associated with adolescent obesity (AOR = 1.03, 95% CI 0.63-1.68; AOR = 1.07, 95% CI 0.52-2.22, respectively). Lower maternal sensitivity, measured by direct observation of parent-adolescent interactions, was associated with adolescent obesity. Efforts to prevent and treat childhood obesity, both at the practitioner level and the community level, may be enhanced by educating parents that their reactions to their children's behaviors may have consequences related to obesity.

  5. Paid maternity and paternity leave: rights and choices.

    PubMed

    Jordan, Claire

    2007-01-01

    From April 2007 onwards, maternity leave will be raised to nine months Paid maternity leave is associated with significant health benefits for babies, including reduced infant mortality The Government proposes to increase paid maternity leave to one year and introduce additional paternity leave by around 2009 The U.K's provision for maternity leave and child care is more generous than the U.S.A. or Australia but less than in the Scandinavian countries

  6. Paternal environmental enrichment transgenerationally alters affective behavioral and neuroendocrine phenotypes.

    PubMed

    Yeshurun, Shlomo; Short, Annabel K; Bredy, Timothy W; Pang, Terence Y; Hannan, Anthony J

    2017-03-01

    Recent studies have demonstrated that paternal stress in rodents can result in modification of offspring behavior. Environmental enrichment, which enhances cognitive stimulation and physical activity, modifies various behaviors and reduces stress responses in adult rodents. We investigated the transgenerational influence of paternal environmental enrichment on offspring behavior and physiological stress response. Adult C57BL/6J male mice (F0) were exposed to either environmental enrichment or standard housing for four weeks and then pair-mated with naïve females. The F2 generation was generated using F1 male offspring. Male and female F1 and F2 offspring were tested for anxiety using the elevated-plus maze and large open field at 8 weeks of age. Depression-related behavior was assessed using the forced-swim test. Hypothalamic-pituitary-adrenal (HPA) axis function was determined by quantification of serum corticosterone and adrenocorticotropic hormone (ACTH) levels at baseline and after forced-swim stress. Paternal environmental enrichment was associated with increased body weights of male F1 and F2 offspring. There was no significant effect on F1 offspring anxiety and depression-related behaviors. There were no changes in anxiety-related behaviors in the F2 offspring, however these mice displayed a reduced latency to immobility in the forced-swim test. Furthermore, F2 females had significantly higher serum corticosterone levels post-stress, but not ACTH. These results show that paternal environmental enrichment exerts a sex-specific transgenerational impact on the behavioral and physiological response to stress. Our findings have implications for the modelling of psychiatric disorders in rodents.

  7. Opposite effects of nonapeptide antagonists on paternal behavior in the teleost fish Amphiprion ocellaris.

    PubMed

    DeAngelis, Ross; Gogola, Joseph; Dodd, Logan; Rhodes, Justin S

    2017-03-17

    The nonapeptides isotocin (IT) and arginine vasotocin (AVT), along with their mammalian homologs oxytocin and arginine vasopressin, are well known regulators of social behaviors across vertebrate taxa. However, little is known about their involvement in paternal care. Here, we measured the effect of an IT and an AVT V1a receptor antagonist on paternal behaviors in the primarily paternal teleost Amphiprion ocellaris. We also measured the effect of the IT receptor antagonist on aggression in dyadic contests between two non-reproductive fish to assess specificity of the effect on paternal behaviors. Individual differences in levels of paternal behaviors (nips, fanning the eggs, and proportion of the time in the nest) were consistent across spawning cycles when no treatments were administered. The IT receptor antagonist severely reduced paternal behaviors but had no effect on aggression, whereas the AVT V1a receptor antagonist increased paternal behaviors. These results support the idea that IT signaling is crucial for the expression of paternal behavior in A. ocellaris. Based on a previous study showing that the AVT V1a antagonist decreases aggression in dyadic contests, we hypothesize that the antagonist enhances paternal behavior indirectly by reducing vigilance and aggression, thereby alleviating effort directed towards other competing behaviors and allowing for the increased expression of paternal behaviors.

  8. Multiple paternity does not depend on male genetic diversity.

    PubMed

    Thonhauser, Kerstin E; Raveh, Shirley; Penn, Dustin J

    2014-07-01

    Polyandry is common in many species and it has been suggested that females engage in multiple mating to increase the genetic diversity of their offspring (genetic diversity hypothesis). Multiple paternity occurs in 30% of litters in wild populations of house mice, Mus musculus musculus, and multiple-sired litters are genetically more diverse than single-sired ones. Here, we aimed to test whether female house mice produce multiple-sired litters when they have the opportunity to produce genetically diverse litters. We assessed the rates of multiple paternity when females could choose to mate with two males that were genetically dissimilar to each other (i.e. nonsiblings and MHC dissimilar) compared with when females could choose to mate with two males that were genetically similar to each other (i.e. siblings and shared MHC alleles). Multiple mating may depend upon a female's own condition, and, therefore, we also tested whether inbred (from full-sibling matings) females were more likely to produce multiple-sired progeny than outbred controls. Overall we found that 29% of litters had multiple sires, but we found no evidence that females were more likely to produce multiple-sired litters when they had the opportunity to mate with genetically dissimilar males compared with controls, regardless of whether females were inbred or outbred. Thus, our findings do not support the idea that female mice increase multiple paternity when they have the opportunity to increase the genetic diversity of their offspring, as expected from the genetic diversity hypothesis.

  9. Decisions about parental care in response to perceived paternity.

    PubMed

    Neff, Bryan D

    2003-04-17

    Evolutionary ecologists are attempting to explain how parents make behavioural decisions about how much care to provide to their young. Theory predicts that when genetic relatedness to young is decreased by cuckoldry, for example, parents should reduce their care in favour of alternative broods that provide greater reproductive success. Experimental manipulation of perceived paternity has been used to test the theory, but such studies have generated mixed results. Some manipulations can fail to alter a parent's perceived paternity, whereas others may directly affect parental behaviour when, for instance, the manipulation involves capturing the parent. No study has demonstrated parental care adjustment in a manner uncomplicated by experimental design or life history correlates. Here I test the theory using the fact that nest-tending parental male bluegill sunfish (Lepomis macrochirus) can assess their paternity using both the visual presence of parasitic cuckolder males during spawning, and olfactory cues released by newly hatched eggs. By manipulating both types of cues I show that parental males dynamically adjust their parental care, favouring broods that are apparently most closely related. These results confirm the importance of genetic relatedness in parental care decision-making.

  10. Paternal Experience and Stress Responses in California Mice (Peromyscus californicus)

    PubMed Central

    Bardi, Massimo; Franssen, Catherine L; Hampton, Joseph E; Shea, Eleanor A; Fanean, Amanda P; Lambert, Kelly G

    2011-01-01

    Paternal behavior greatly affects the survival, social development, and cognitive development of infants. Nevertheless, little research has been done to assess how paternal experience modifies the behavioral characteristics of fathers, including fear and stress responses to a novel environment. We investigated long-term behavioral and physiologic effects of parental experience in mice (Peromyscus californicus) and how this response activates the hypothalamic–pituitary–adrenal axis (as measured by corticosterone and dehydroepiandrosterone [DHEA] levels) and interacts with anxiety-related behaviors. Three groups of adult males were tested—fathers exposed to pups, virgins exposed to pups, and virgins never exposed to pups—in 2 environments designed to elicit anxiety response: an open field with a novel object placed in the center and a closed cage containing a sample of a component of fox feces. Behavioral responses were measured by using traditional methods (duration and frequency) and behavioral-chain sequences. Results indicated that paternal experience significantly modifies a male mouse's behavioral and physiologic responses to stress-provoking stimuli. Compared with inexperienced male mice, experienced male mice had a significant decrease in the occurrence of incomplete behavioral chains during the exposure to the novel object, an index of reduced stress. Further, even moderate pup exposure induced behavioral modifications in virgin male mice. These behavioral responses were correlated with changes in corticosterone and DHEA levels. Together, these data provide evidence that interactions between male mice and offspring may have mutually beneficial long-term behavioral and physiologic effects. PMID:21819678

  11. Paternal influences on offspring development: behavioural and epigenetic pathways.

    PubMed

    Braun, K; Champagne, F A

    2014-10-01

    Although mammalian parent-offspring interactions during early life are primarily through the mother, there is increasing evidence for the impact of fathers on offspring development. A critical issue concerns the pathways through which this paternal influence is achieved. In the present review, we highlight the literature suggesting several of these routes of paternal effects in mammals. First, similar to mothers, fathers can influence offspring development through the direct care of offspring, as has been observed in biparental species. Second, there is growing evidence that, even in the absence of contact with offspring, fathers can transmit environmentally-induced effects (i.e. behavioural, neurobiological and metabolic phenotypes induced by stress, nutrition and toxins) to offspring and it has been speculated that these effects are achieved through inherited epigenetic variation within the patriline. Third, fathers may also impact the quality of mother-infant interactions and thus achieve an indirect influence on offspring. Importantly, these pathways of paternal influence are not mutually exclusive but rather serve as an illustration of the complex mechanisms through which parental influence is achieved. These influences may serve to transmit traits across generations, thus leading to a transgenerational transmission of neurobiological and behavioural phenotypes.

  12. Multiple paternity in polyandrous barn owls (Tyto alba).

    PubMed

    Henry, Isabelle; Antoniazza, Sylvain; Dubey, Sylvain; Simon, Céline; Waldvogel, Céline; Burri, Reto; Roulin, Alexandre

    2013-01-01

    In polyandrous species females produce successive clutches with several males. Female barn owls (Tyto alba) often desert their offspring and mate to produce a 2(nd) annual brood with a second male. We tested whether copulating during chick rearing at the 1(st) annual brood increases the male's likelihood to obtain paternity at the 2(nd) annual breeding attempt of his female mate in case she deserts their brood to produce a second brood with a different male. Using molecular paternity analyses we found that 2 out of 26 (8%) second annual broods of deserting females contained in total 6 extra-pair young out of 15 nestlings. These young were all sired by the male with whom the female had produced the 1(st) annual brood. In contrast, none of the 49 1(st) annual breeding attempts (219 offspring) and of the 20 2(nd) annual breeding attempts (93 offspring) of non-deserting females contained extra-pair young. We suggest that female desertion can select male counter-strategies to increase paternity and hence individual fitness. Alternatively, females may copulate with the 1(st) male to derive genetic benefits, since he is usually of higher quality than the 2(nd) male which is commonly a yearling individual.

  13. Multiple Paternity in Polyandrous Barn Owls (Tyto alba)

    PubMed Central

    Dubey, Sylvain; Simon, Céline; Waldvogel, Céline; Burri, Reto; Roulin, Alexandre

    2013-01-01

    In polyandrous species females produce successive clutches with several males. Female barn owls (Tyto alba) often desert their offspring and mate to produce a 2nd annual brood with a second male. We tested whether copulating during chick rearing at the 1st annual brood increases the male's likelihood to obtain paternity at the 2nd annual breeding attempt of his female mate in case she deserts their brood to produce a second brood with a different male. Using molecular paternity analyses we found that 2 out of 26 (8%) second annual broods of deserting females contained in total 6 extra-pair young out of 15 nestlings. These young were all sired by the male with whom the female had produced the 1st annual brood. In contrast, none of the 49 1st annual breeding attempts (219 offspring) and of the 20 2nd annual breeding attempts (93 offspring) of non-deserting females contained extra-pair young. We suggest that female desertion can select male counter-strategies to increase paternity and hence individual fitness. Alternatively, females may copulate with the 1st male to derive genetic benefits, since he is usually of higher quality than the 2nd male which is commonly a yearling individual. PMID:24244622

  14. [Paternal grief and nursing care in perinatal deaths].

    PubMed

    Su, Yu-Ting; Chen, Fu-Hsuan

    2013-12-01

    Perinatal death distresses all family members. Paternal perceptions of perinatal death should be better understood in order to help the expectant father maintain long-term health and quality of life and minimize the potential negative effects of paternal grieving and stress on family and marital relations. Male and female grieving behaviors have been shown to differ significantly. Taiwan society typically expects males to be strong and support the family while avoiding the overt expression or revelation of personal feelings such as grief, regret, and anger. Although fathers may be reluctant to express a need for care, care personnel may facilitate care through such activities as understanding of a perinatal-death father's feelings, providing related messages about the event to facilitate good decisions, helping him support his spouse, helping him adopt appropriate behaviors and attitudes toward the fetus, and treating him as a grieving father rather than a medical event. This article reviews the literature to explore paternal perceptions and reactions toward perinatal death in order to recognize nursing needs and principles of grieving fathers within the Taiwan cultural context. Further study in this area is recommended.

  15. Paternal Fenvalerate Exposure Influences Reproductive Functions in the Offspring

    PubMed Central

    Parvizi, Nahid; Zhou, Yuchuan; Xu, Kesi; Jiang, Hui; Li, Rongjie; Hang, Yiqiong; Lu, Yang

    2013-01-01

    Fenvalerate (Fen), a synthetic pyrethroid insecticide, has been shown to have adverse effects on male reproductive system. Thus, the aim of the present study was to elucidate whether these adverse effects are passed from exposed male mice to their offspring. Adult male mice received Fen (10 mg/kg) daily for 30 days and mated with untreated females to produce offspring. Fenvalerate significantly changed the methylation status of angiotensin I-converting enzyme (Ace), forkhead box O3 (Foxo3a), huntingtin-associated protein 1 (Hap1), nuclear receptor subfamily 3 (Nr3c2), promyelocytic leukemia (Pml), and Prostaglandin F2 receptor negative regulator (Ptgfrn) genes in paternal mice sperm genomic DNA. Further, Fen significantly increased sperm abnormalities; serum testosterone and estradiol-17ß level in adult male (F0) and their male offspring (F1). Further, paternal Fen treatment significantly increased the length of estrous cycle, serum estradiol-17ß concentration in estrus, and progesterone levels in diestrus in female offspring (F1). These findings suggest that adverse effects of paternal Fen exposure on reproductive functions can be seen not only in treated males (F0) but also in their offsprings. PMID:23548413

  16. Healthcare costs of paternal depression in the postnatal period

    PubMed Central

    Edoka, Ijeoma P.; Petrou, Stavros; Ramchandani, Paul G.

    2011-01-01

    Background There is growing evidence that fathers experience depressive symptoms following the birth of a child. The aim of this study was to estimate the healthcare costs of paternal postnatal depression, thereby informing research into cost-effective preventative and treatment interventions for the condition. Methods Data on healthcare resource-use over the first 12 months postpartum was collected from 192 fathers recruited from two postnatal wards in southern England. Three groups of fathers were identified: fathers with depression (n = 31), fathers at high risk of developing depression (n = 67) and fathers without depression (n = 94). Results Mean father–child dyad costs were estimated at £1103.51, £1075.06 and £945.03 (£ sterling, 2008 prices) in these three groups, respectively (P = 0.796). After controlling for potentially confounding factors, paternal depression was associated with significantly higher community care costs. Conclusion This study provides useful preliminary insights into the healthcare costs associated with paternal depression during the postnatal period. Limitation The small sample size may, in part, account for the failure to detect statistically significant differences in mean costs between study groups for most cost categories. PMID:21561664

  17. Transmission of paternal chloroplasts in tobacco (Nicotiana tabacum).

    PubMed

    Horlow, C; Goujaud, J; Lépingle, A; Missonier, C; Bourgin, J P

    1990-09-01

    Medgyesy et al. (1986, Mol. Gen. Genet. 204, 195-198) have described in Nicotiana plumbaginifolia and in an interspecific cross involving N. plumbaginifolia and N. tabacum a procedure for selecting cell lines derived from seedlings carrying paternal chloroplasts by taking advantage of a plastid-encoded mutation which confers resistance to streptomycin. We have extended their demonstration of occasional transmission of chloroplasts through pollen to the case of an intraspecific cross in N. tabacum. The line used as maternal parent, ITB19(sua), displayed a cytoplasmic male sterility due to the presence of a cytoplasm originating from N. suaveolens. The line used as paternal parent, SR1, was fertile and possessed mutant chloroplasts conferring resistance to streptomycin. From cell lines derived from 204 seedlings, three were regenerated into streptomycin-resistant buds. The plants derived from these three clones were male-sterile. Their progeny, after crossing with a wild type tobacco line, XHFD8, was resistant to streptomycin. Tests of resistance of the seedlings to tentoxin and restriction analyses of the chloroplast DNA indicated that two clones still had the maternal chloroplasts and were thus probably new streptomycin-resistant mutants, whereas the third one had acquired the chloroplasts of the paternal parent, but had retained the mitochondria of the maternal parent.

  18. Spatial patterns of extra-pair paternity: beyond paternity gains and losses.

    PubMed

    Schlicht, Lotte; Valcu, Mihai; Kempenaers, Bart

    2015-03-01

    Most studies on extra-pair paternity (EPP) focus either on a specific male's extra-pair gains or his extra-pair losses. For an individual bird however, mate choice or mate availability may underlie strong spatial restrictions. Disregarding this spatial aspect may underestimate or mask effects of parameters influencing observed EPP patterns. Here, we propose a spatially explicit model for investigating the probability of having extra-pair offspring (EPO) within local networks of breeding pairs. The data set includes all realized and unrealized potential extra-pair matings. This method is biologically meaningful because it allows (a) considering both members of an extra-pair mating and their social mates, and (b) direct modelling of the spatial context in which extra-pair behaviour occurs. The method has the advantage that it can provide inference about the relative contribution of spatial and non-spatial parameters, and about the relative importance of male and female neighbourhoods. We apply this method to parentage data from 1025 broods collected over 12 breeding seasons in two independent study populations of blue tits (Cyanistes caeruleus). We investigate a set of predictions based on the EPP literature, namely that EPP depends on male age and body size, breeding density and breeding synchrony. In all analyses, we control for breeding distance, a parameter that is expected to influence EPP even under random mating. The results show that older and larger males were more likely to sire EPO, but both effects decreased with increasing breeding distance. Local breeding density but not synchrony predicted whether a particular male-female combination had EPO, at least in one of the study areas. Apart from breeding distance, male age had the strongest effect on EPP, followed by a measure of breeding density. The method thus allows a comprehensive assessment of the relative importance of different types of spatial and non-spatial parameters to explain variation in the

  19. Paternal modeling, household availability, and paternal intake as predictors of fruit, vegetable, and sweetened beverage consumption among African American children.

    PubMed

    Harris, Toni S; Ramsey, Michael

    2015-02-01

    The current study examined how African American fathers' dietary practices were associated with their children's dietary consumption. The sample consisted of one hundred and two African American fathers, who had children between the ages of three and thirteen. The fathers provided self-reports of their consumption of fruits, vegetables, and sugar sweetened beverages; modeling of healthy eating; household availability of foods and beverages; and their children's previously mentioned consumption. Sweetened beverages are considered to be any beverage that contains added sweeteners, high-fructose corn syrup, and/or fruit juice concentrates. Paternal modeling and household availability of food and beverages were measured using subscales from the Comprehensive Feeding Practices Questionnaire (CFPQ). Three separate hierarchical regressions were performed to reveal that child fruit and vegetable consumption was only predicted by parental intake. Child sweetened beverage consumption, however, was predicted by paternal intake and household availability. Modeling did not significantly predict children's consumption of fruits, vegetables, or sweetened beverages. The findings suggest that paternal intake of fruits, vegetables, and sweetened beverages predicts child consumption of fruits, vegetables, and sweetened beverages. Family efforts should be made toward increasing father's consumption of healthy foods while decreasing the consumption and availability of sweetened beverages. Copyright © 2014. Published by Elsevier Ltd.

  20. Maternal inheritance of mitochondrial DNA: degradation of paternal mitochondria by allogeneic organelle autophagy, allophagy.

    PubMed

    Sato, Miyuki; Sato, Ken

    2012-03-01

    Maternal inheritance of mitochondrial DNA (mtDNA) is generally observed in many eukaryotes. Sperm-derived paternal mitochondria and their mtDNA enter the oocyte cytoplasm upon fertilization and then normally disappear during early embryogenesis. However, the mechanism underlying this clearance of paternal mitochondria has remained largely unknown. Recently, we showed that autophagy is required for the elimination of paternal mitochondria in Caenorhabditis elegans embryos. Shortly after fertilization, autophagosomes are induced locally around the penetrated sperm components. These autophagosomes engulf paternal mitochondria, resulting in their lysosomal degradation during early embryogenesis. In autophagy-defective zygotes, paternal mitochondria and their genomes remain even in the larval stage. Therefore, maternal inheritance of mtDNA is accomplished by autophagic degradation of paternal mitochondria. We also found that another kind of sperm-derived structure, called the membranous organelle, is degraded by zygotic autophagy as well. We thus propose to term this allogeneic (nonself) organelle autophagy as allophagy.

  1. From sperm to offspring: Assessing the heritable genetic consequences of paternal smoking and potential public health impacts.

    PubMed

    Beal, Marc A; Yauk, Carole L; Marchetti, Francesco

    2017-07-01

    Individuals who smoke generally do so with the knowledge of potential consequences to their own health. What is rarely considered are the effects of smoking on their future children. The objective of this work was to review the scientific literature on the effects of paternal smoking on sperm and assess the consequences to offspring. A literature search identified over 200 studies with relevant data in humans and animal models. The available data were reviewed to assess the weight of evidence that tobacco smoke is a human germ cell mutagen and estimate effect sizes. These results were used to model the potential increase in genetic disease burden in offspring caused by paternal smoking, with specific focus on aneuploid syndromes and intellectual disability, and the socioeconomic impacts of such an effect. The review revealed strong evidence that tobacco smoking is associated with impaired male fertility, and increases in DNA damage, aneuploidies, and mutations in sperm. Studies support that these effects are heritable and adversely impact the offspring. Our model estimates that, with even a modest 25% increase in sperm mutation frequency caused by smoke-exposure, for each generation across the global population there will be millions of smoking-induced de novo mutations transmitted from fathers to offspring. Furthermore, paternal smoking is estimated to contribute to 1.3 million extra cases of aneuploid pregnancies per generation. Thus, the available evidence makes a compelling case that tobacco smoke is a human germ cell mutagen with serious public health and socio-economic implications. Increased public education should be encouraged to promote abstinence from smoking, well in advance of reproduction, to minimize the transmission of harmful mutations to the next-generation. Crown Copyright © 2017. Published by Elsevier B.V. All rights reserved.

  2. Effects of increased paternal age on sperm quality, reproductive outcome and associated epigenetic risks to offspring.

    PubMed

    Sharma, Rakesh; Agarwal, Ashok; Rohra, Vikram K; Assidi, Mourad; Abu-Elmagd, Muhammad; Turki, Rola F

    2015-04-19

    Over the last decade, there has been a significant increase in average paternal age when the first child is conceived, either due to increased life expectancy, widespread use of contraception, late marriages and other factors. While the effect of maternal ageing on fertilization and reproduction is well known and several studies have shown that women over 35 years have a higher risk of infertility, pregnancy complications, spontaneous abortion, congenital anomalies, and perinatal complications. The effect of paternal age on semen quality and reproductive function is controversial for several reasons. First, there is no universal definition for advanced paternal ageing. Secondly, the literature is full of studies with conflicting results, especially for the most common parameters tested. Advancing paternal age also has been associated with increased risk of genetic disease. Our exhaustive literature review has demonstrated negative effects on sperm quality and testicular functions with increasing paternal age. Epigenetics changes, DNA mutations along with chromosomal aneuploidies have been associated with increasing paternal age. In addition to increased risk of male infertility, paternal age has also been demonstrated to impact reproductive and fertility outcomes including a decrease in IVF/ICSI success rate and increasing rate of preterm birth. Increasing paternal age has shown to increase the incidence of different types of disorders like autism, schizophrenia, bipolar disorders, and childhood leukemia in the progeny. It is thereby essential to educate the infertile couples on the disturbing links between increased paternal age and rising disorders in their offspring, to better counsel them during their reproductive years.

  3. Consistent paternity skew through ontogeny in Peron's tree frog (Litoria peronii).

    PubMed

    Sherman, Craig D H; Wapstra, Erik; Olsson, Mats

    2009-12-14

    A large number of studies in postcopulatory sexual selection use paternity success as a proxy for fertilization success. However, selective mortality during embryonic development can lead to skews in paternity in situations of polyandry and sperm competition. Thus, when assessment of paternity fails to incorporate mortality skews during early ontogeny, this may interfere with correct interpretation of results and subsequent evolutionary inference. In a previous series of in vitro sperm competition experiments with amphibians (Litoria peronii), we showed skewed paternity patterns towards males more genetically similar to the female. Here we use in vitro fertilizations and sperm competition trials to test if this pattern of paternity of fully developed tadpoles reflects patterns of paternity at fertilization and if paternity skews changes during embryonic development. We show that there is no selective mortality through ontogeny and that patterns of paternity of hatched tadpoles reflects success of competing males in sperm competition at fertilization. While this study shows that previous inferences of fertilization success from paternity data are valid for this species, rigorous testing of these assumptions is required to ensure that differential embryonic mortality does not confound estimations of true fertilization success.

  4. Persistent neuronal Ube3a expression in the suprachiasmatic nucleus of Angelman syndrome model mice.

    PubMed

    Jones, Kelly A; Han, Ji Eun; DeBruyne, Jason P; Philpot, Benjamin D

    2016-06-16

    Mutations or deletions of the maternal allele of the UBE3A gene cause Angelman syndrome (AS), a severe neurodevelopmental disorder. The paternal UBE3A/Ube3a allele becomes epigenetically silenced in most neurons during postnatal development in humans and mice; hence, loss of the maternal allele largely eliminates neuronal expression of UBE3A protein. However, recent studies suggest that paternal Ube3a may escape silencing in certain neuron populations, allowing for persistent expression of paternal UBE3A protein. Here we extend evidence in AS model mice (Ube3a(m-/p+)) of paternal UBE3A expression within the suprachiasmatic nucleus (SCN), the master circadian pacemaker. Paternal UBE3A-positive cells in the SCN show partial colocalization with the neuropeptide arginine vasopressin (AVP) and clock proteins (PER2 and BMAL1), supporting that paternal UBE3A expression in the SCN is often of neuronal origin. Paternal UBE3A also partially colocalizes with a marker of neural progenitors, SOX2, implying that relaxed or incomplete imprinting of paternal Ube3a reflects an overall immature molecular phenotype. Our findings highlight the complexity of Ube3a imprinting in the brain and illuminate a subpopulation of SCN neurons as a focal point for future studies aimed at understanding the mechanisms of Ube3a imprinting.

  5. Persistent neuronal Ube3a expression in the suprachiasmatic nucleus of Angelman syndrome model mice

    PubMed Central

    Jones, Kelly A.; Han, Ji Eun; DeBruyne, Jason P.; Philpot, Benjamin D.

    2016-01-01

    Mutations or deletions of the maternal allele of the UBE3A gene cause Angelman syndrome (AS), a severe neurodevelopmental disorder. The paternal UBE3A/Ube3a allele becomes epigenetically silenced in most neurons during postnatal development in humans and mice; hence, loss of the maternal allele largely eliminates neuronal expression of UBE3A protein. However, recent studies suggest that paternal Ube3a may escape silencing in certain neuron populations, allowing for persistent expression of paternal UBE3A protein. Here we extend evidence in AS model mice (Ube3am–/p+) of paternal UBE3A expression within the suprachiasmatic nucleus (SCN), the master circadian pacemaker. Paternal UBE3A-positive cells in the SCN show partial colocalization with the neuropeptide arginine vasopressin (AVP) and clock proteins (PER2 and BMAL1), supporting that paternal UBE3A expression in the SCN is often of neuronal origin. Paternal UBE3A also partially colocalizes with a marker of neural progenitors, SOX2, implying that relaxed or incomplete imprinting of paternal Ube3a reflects an overall immature molecular phenotype. Our findings highlight the complexity of Ube3a imprinting in the brain and illuminate a subpopulation of SCN neurons as a focal point for future studies aimed at understanding the mechanisms of Ube3a imprinting. PMID:27306933

  6. Prader-Willi syndrome.

    PubMed

    Cassidy, Suzanne B; Schwartz, Stuart; Miller, Jennifer L; Driscoll, Daniel J

    2012-01-01

    Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; characteristic facial features; early-childhood onset obesity and hyperphagia; developmental delay/mild intellectual disability; short stature; and a distinctive behavioral phenotype. Sleep abnormalities and scoliosis are common. Growth hormone insufficiency is frequent, and replacement therapy provides improvement in growth, body composition, and physical attributes. Management is otherwise largely supportive. Consensus clinical diagnostic criteria exist, but diagnosis should be confirmed through genetic testing. Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13 through paternal deletion of this region (65-75% of individuals), maternal uniparental disomy 15 (20-30%), or an imprinting defect (1-3%). Parent-specific DNA methylation analysis will detect >99% of individuals. However, additional genetic studies are necessary to identify the molecular class. There are multiple imprinted genes in this region, the loss of which contribute to the complete phenotype of Prader-Willi syndrome. However, absence of a small nucleolar organizing RNA gene, SNORD116, seems to reproduce many of the clinical features. Sibling recurrence risk is typically <1%, but higher risks may pertain in certain cases. Prenatal diagnosis is available.

  7. Hearing Loss in Syndromic Craniosynostoses: Introduction and Consideration of Mechanisms

    PubMed Central

    Agochukwu, Nneamaka B.; Solomon, Benjamin D.; Muenke, Maximilian

    2014-01-01

    Purpose There are a number of craniosynostosis syndromes with hearing loss—including Muenke, Apert, Pfeiffer, Crouzon, Beare-Stevenson, Crouzon with acanthosis nigricans, and Jackson-Weiss syndromes—that result from mutations in the fibroblast growth factor receptor (FGFR) genes. Studies of FGFRs and their ligands, fibroblast growth factors (FGFs), have revealed clues to the precise contribution of aberrant FGFR signaling to inner ear morphogenesis and the hearing loss encountered in craniosynostoses. The purpose of this article is to review basic studies of FGFRs with emphasis on their function and expression in the inner ear and surrounding structures. Method A Medline search was performed to find basic science articles regarding FGFR, their ligands, and their expression and relevant mouse models. Additional items searched included clinical descriptions and studies of individuals with FGFR-related craniosynostosis syndromes. Results The FGF signaling pathway is essential for the morphogensis and proper function of the inner ear and auditory sensory epithelium. Conclusion The variable auditory phenotypes seen in individuals with Muenke syndrome may have a genetic basis, likely due to multiple interacting factors in the genetic environment or modifying factors. Further analysis and studies of mouse models of Muenke syndrome, in particular, may provide clues to the specific effects of the defining mutation in FGFR3 in the inner ear not only at birth but also into adulthood. In particular, investigations into these models may give insight into the variable expression and incomplete penetrance of this phenotype. PMID:24686979

  8. FGFR-associated craniosynostosis syndromes and gastrointestinal defects.

    PubMed

    Hibberd, Christine E; Bowdin, Sarah; Arudchelvan, Yamini; Forrest, Christopher R; Brakora, Katherine A; Marcucio, Ralph S; Gong, Siew-Ging

    2016-12-01

    Craniosynostosis is a relatively common birth defect characterized by the premature fusion of one or more cranial sutures. Examples of craniosynostosis syndromes include Crouzon (CS), Pfeiffer (PS), and Apert (AS) syndrome, with clinical characteristics such as midface hypoplasia, hypertelorism, and in some cases, limb defects. Mutations in Fibroblast Growth Factor Receptor-2 comprise the majority of known mutations in syndromic forms of craniosynostosis. A number of clinical reports of FGFR-associated craniosynostosis patients and mouse mutants have been linked to gastrointestinal tract (GIT) disorders, leading to the hypothesis of a direct link between FGFR-associated craniosynostosis syndromes and GIT malformations. We conducted an investigation to determine GIT symptoms in a sample of FGFR-associated craniosynostosis syndrome patients and a mouse model of CS containing a mutation (W290R) in Fgfr2. We found that, compared to the general population, the incidence of intestinal/bowel malrotation (IM) was present at a higher level in our sample population of patients with FGFR-associated craniosynostosis syndromes. We also showed that the mouse model of CS had an increased incidence of cecal displacement, suggestive of IM. These findings suggest a direct relationship between FGFR-related craniosynostosis syndromes and GIT malformations. Our study may shed further light on the potential widespread impact FGFR mutations on different developmental systems. Based on reports of GIT malformations in children with craniosynostosis syndromes and substantiation with our animal model, GIT malformations should be considered in any child with an FGFR2-associated craniosynostosis syndrome. © 2016 Wiley Periodicals, Inc.

  9. Genetic structure of Tunisian ethnic groups revealed by paternal lineages.

    PubMed

    Fadhlaoui-Zid, Karima; Martinez-Cruz, Begoña; Khodjet-el-khil, Houssein; Mendizabal, Isabel; Benammar-Elgaaied, Amel; Comas, David

    2011-10-01

    Tunisia has experienced a variety of human migrations that have modeled the myriad cultural groups inhabiting the area. Both Arabic and Berber-speaking populations live in Tunisia. Berbers are commonly considered as in situ descendants of peoples who settled roughly in Palaeolithic times, and posterior demographic events such as the arrival of the Neolithic, the Arab migrations, and the expulsion of the "Moors" from Spain, had a strong cultural influence. Nonetheless, the genetic structure and the population relationships of the ethnic groups living in Tunisia have been poorly assessed. In order to gain insight into the paternal genetic landscape and population structure, more than 40 Y-chromosome single nucleotide polymorphisms and 17 short tandem repeats were analyzed in five Tunisian ethnic groups (three Berber-speaking isolates, one Andalusian, and one Cosmopolitan Arab). The most common lineage was the North African haplogroup E-M81 (71%), being fixed in two Berber samples (Chenini-Douiret and Jradou), suggesting isolation and genetic drift. Differential levels of paternal gene flow from the Near East were detected in the Tunisian samples (J-M267 lineage over 30%); however, no major sub-Saharan African or European influence was found. This result contrasts with the high amount of sub-Saharan and Eurasian maternal lineages previously described in Tunisia. Overall, our results reveal a certain genetic inter-population diversity, especially among Berber groups, and sexual asymmetry, paternal lineages being mostly of autochthonous origin. In addition, Andalusians, who are supposed to be migrants from southern Spain, do not exhibit any substantial contribution of European lineages, suggesting a North African origin for this ethnic group. Copyright © 2011 Wiley-Liss, Inc.

  10. Paternal deprivation prior to adolescence and vulnerability to pituitary adenomas.

    PubMed

    Sobrinho, L G; Duarte, J S; Paiva, I; Gomes, L; Vicente, V; Aguiar, P

    2012-06-01

    It has been reported that women with prolactinoma were exposed, early in life, to an environment characterized by an absent or violent father. The present study was designed to evaluate whether paternal absence or violent paternal behavior were more prevalent in patients with pituitary adenomas (prolactinoma, acromegaly, non-secreting adenoma and Cushing's disease) compared to a control population. We conducted an observational case-control multicenter study. We interviewed 395 patients with prolactinoma (296 females and 99 males), 130 with acromegaly (87 females and 43 males), 237 with non-secreting adenoma (144 females and 93 males) and 68 with Cushing's disease (61 females and 7 males) and 365 patients from the same clinics with nodular thyroid disease or lymphocytic thyroiditis with euthyroidism as controls. Violent or absent fathers were significantly more prevalent in patients with prolactinoma or acromegaly than in controls (P = 0.001 and P = 0.002, respectively) but not in patients with non-secreting adenoma or corticotrophinoma. Absent fathers in prolactinoma and acromegaly versus controls: P = 0.001 and P = 0.119. Violent fathers in prolactinoma and acromegaly versus controls: P = 0.069 and P = 0.001. The prevalence of absent or violent fathers was also significantly higher in prolactinoma and acromegaly when compared to non-secreting adenoma (P = 0.039 and P = 0.033, respectively). Paternal deprivation before adolescence may be a risk factor for prolactinoma and acromegaly but not for non-secreting pituitary adenomas or Cushing's disease.

  11. Genetic structure of the paternal lineage of the Roma people.

    PubMed

    Pamjav, Horolma; Zalán, Andrea; Béres, Judit; Nagy, Melinda; Chang, Yuet Meng

    2011-05-01

    According to written sources, Roma (Romanies, Gypsies) arrived in the Balkans around 1,000 years ago from India and have subsequently spread through several parts of Europe. Genetic data, particularly from the Y chromosome, have supported this model, and can potentially refine it. We now provide an analysis of Y-chromosomal markers from five Roma and two non-Roma populations (N = 787) in order to investigate the genetic relatedness of the Roma population groups to one another, and to gain further understanding of their likely Indian origins, the genetic contribution of non-Roma males to the Roma populations, and the early history of their splits and migrations in Europe. The two main sources of the Roma paternal gene pool were identified as South Asian and European. The reduced diversity and expansion of H1a-M82 lineages in all Roma groups imply shared descent from a single paternal ancestor in the Indian subcontinent. The Roma paternal gene pool also contains a specific subset of E1b1b1a-M78 and J2a2-M67 lineages, implying admixture during early settlement in the Balkans and the subsequent influx into the Carpathian Basin. Additional admixture, evident in the low and moderate frequencies of typical European haplogroups I1-M253, I2a-P37.2, I2b-M223, R1b1-P25, and R1a1-M198, has occurred in a more population-specific manner. Copyright © 2011 Wiley-Liss, Inc.

  12. Paternal influences on pregnancy complications and birth outcomes

    SciTech Connect

    Cleghorn de Rohrmoser, D.C.

    1992-01-01

    The purpose of this study was to investigate the relationship of selected characteristics of the paternal work environment and occupational history to the incidence of complications in pregnancy, complications in labor and anomalies in birth outcomes. The literature suggested that male exposure to teratogenic hazards in the form of radiation and chemical compounds, primarily in the form of solvents, has been implicated in reproductive disorders and malformed offspring in animals. Similarly, some recent research suggests that the exposure of male workers to such hazards on their job may have consequences for their spouses and children. Based on these experimental research studies and analyses of persons working in high risk occupations, a broader study of the potential contribution of paternal work environment variables to the success of pregnancy and birth outcomes seemed warranted. Based upon the literature review, a model was proposed for predicting complications in pregnancy, complications in labor and birth outcome (normal birth, low birth weight, congenital malformations and fetal death). From the 1980 National Natality Survey and the 1980 National Fetal Mortality Survey, four sub-samples of married couples, with both husband and wife employed, were selected on the basis of one of the four birth outcomes. The model called for controlling a range of maternal intrinsic and extrinsic health and behavioral variables known to be related to birth outcomes. Multiple logistic regression procedures were used to analyze the effects of father's exposure to radiation and solvents on the job, to complications in pregnancy and labor, and to birth outcome, while controlling for maternal variables. The results indicated that none of the paternal variables were predictors of complications in labor. Further, there was no clear pattern of results, though father's degree of exposure to solvents, and exposures to radiation did reach significance in some analyses.

  13. Paternal genetic affinity between western Austronesians and Daic populations

    PubMed Central

    2008-01-01

    Background Austronesian is a linguistic family spread in most areas of the Southeast Asia, the Pacific Ocean, and the Indian Ocean. Based on their linguistic similarity, this linguistic family included Malayo-Polynesians and Taiwan aborigines. The linguistic similarity also led to the controversial hypothesis that Taiwan is the homeland of all the Malayo-Polynesians, a hypothesis that has been debated by ethnologists, linguists, archaeologists, and geneticists. It is well accepted that the Eastern Austronesians (Micronesians and Polynesians) derived from the Western Austronesians (Island Southeast Asians and Taiwanese), and that the Daic populations on the mainland are supposed to be the headstream of all the Austronesian populations. Results In this report, we studied 20 SNPs and 7 STRs in the non-recombining region of the 1,509 Y chromosomes from 30 China Daic populations, 23 Indonesian and Vietnam Malayo-Polynesian populations, and 11 Taiwan aboriginal populations. These three groups show many resemblances in paternal lineages. Admixture analyses demonstrated that the Daic populations are hardly influenced by Han Chinese genetically, and that they make up the largest proportion of Indonesians. Most of the population samples contain a high frequency of haplogroup O1a-M119, which is nearly absent in other ethnic families. The STR network of haplogroup O1a* illustrated that Indonesian lineages did not derive from Taiwan aborigines as linguistic studies suggest, but from Daic populations. Conclusion We show that, in contrast to the Taiwan homeland hypothesis, the Island Southeast Asians do not have a Taiwan origin based on their paternal lineages. Furthermore, we show that both Taiwan aborigines and Indonesians likely derived from the Daic populations based on their paternal lineages. These two populations seem to have evolved independently of each other. Our results indicate that a super-phylum, which includes Taiwan aborigines, Daic, and Malayo-Polynesians, is

  14. Paternal genetic affinity between Western Austronesians and Daic populations.

    PubMed

    Li, Hui; Wen, Bo; Chen, Shu-Juo; Su, Bing; Pramoonjago, Patcharin; Liu, Yangfan; Pan, Shangling; Qin, Zhendong; Liu, Wenhong; Cheng, Xu; Yang, Ningning; Li, Xin; Tran, Dinhbinh; Lu, Daru; Hsu, Mu-Tsu; Deka, Ranjan; Marzuki, Sangkot; Tan, Chia-Chen; Jin, Li

    2008-05-15

    Austronesian is a linguistic family spread in most areas of the Southeast Asia, the Pacific Ocean, and the Indian Ocean. Based on their linguistic similarity, this linguistic family included Malayo-Polynesians and Taiwan aborigines. The linguistic similarity also led to the controversial hypothesis that Taiwan is the homeland of all the Malayo-Polynesians, a hypothesis that has been debated by ethnologists, linguists, archaeologists, and geneticists. It is well accepted that the Eastern Austronesians (Micronesians and Polynesians) derived from the Western Austronesians (Island Southeast Asians and Taiwanese), and that the Daic populations on the mainland are supposed to be the headstream of all the Austronesian populations. In this report, we studied 20 SNPs and 7 STRs in the non-recombining region of the 1,509 Y chromosomes from 30 China Daic populations, 23 Indonesian and Vietnam Malayo-Polynesian populations, and 11 Taiwan aboriginal populations. These three groups show many resemblances in paternal lineages. Admixture analyses demonstrated that the Daic populations are hardly influenced by Han Chinese genetically, and that they make up the largest proportion of Indonesians. Most of the population samples contain a high frequency of haplogroup O1a-M119, which is nearly absent in other ethnic families. The STR network of haplogroup O1a* illustrated that Indonesian lineages did not derive from Taiwan aborigines as linguistic studies suggest, but from Daic populations. We show that, in contrast to the Taiwan homeland hypothesis, the Island Southeast Asians do not have a Taiwan origin based on their paternal lineages. Furthermore, we show that both Taiwan aborigines and Indonesians likely derived from the Daic populations based on their paternal lineages. These two populations seem to have evolved independently of each other. Our results indicate that a super-phylum, which includes Taiwan aborigines, Daic, and Malayo-Polynesians, is genetically educible.

  15. Teenage mothers and breastfeeding: does paternal age make a difference?

    PubMed

    Harner, Holly M; McCarter-Spaulding, Deborah

    2004-11-01

    This descriptive investigation explores the impact of paternal age on a teenage mother's decision regarding infant-feeding method during the postpartum hospital stay. Eighty-six teenagers who delivered a live birth were asked the age of the fathers of their babies and what, if any, influence the fathers had on infant feeding. Although the fathers of the babies frequently voiced an opinion regarding infant feeding, teenage mothers partnered with older men were less likely to breastfeed during the postpartum hospital stay than were teenagers partnered with male peers. Implications for future research and clinical nursing practice are presented.

  16. Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints.

    PubMed

    Chen, Chih-Ping; Chang, Yao-Lung; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chen, Wen-Lin; Chen, Li-Feng; Wang, Wayseen

    2013-03-01

    We present rapid aneuploidy diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin by aCGH using uncultured amniocytes in a fetus with hypotonia, scoliosis, arthrogryposis, hyperextensible joints, facial dysmorphism, ventricular septal defect, pulmonary stenosis, clenched hands, clubfoot, scalp edema and right hydronephrosis. We discuss the genotype-phenotype correlation of 3q duplication syndrome and terminal 14q deletion syndrome. We demonstrate that fetuses with a paternal-origin deletion of 14q involving the 14q32.2 imprinted region may prenatally present the upd(14)mat-like phenotype such as hypotonia, scoliosis, arthrogryposis and hyperextensible joints.

  17. Polygynandry, extra-group paternity and multiple-paternity litters in European badger (Meles meles) social groups.

    PubMed

    Dugdale, Hannah L; Macdonald, David W; Pope, Lisa C; Burke, Terry

    2007-12-01

    The costs and benefits of natal philopatry are central to the formation and maintenance of social groups. Badger groups, thought to form passively according to the resource dispersion hypothesis (RDH), are maintained through natal philopatry and delayed dispersal; however, there is minimal evidence for the functional benefits of such grouping. We assigned parentage to 630 badger cubs from a high-density population in Wytham Woods, Oxford, born between 1988 and 2005. Our methodological approach was different to previous studies; we used 22 microsatellite loci to assign parent pairs, which in combination with sibship inference provided a high parentage assignment rate. We assigned both parents to 331 cubs at > or = 95% confidence, revealing a polygynandrous mating system with up to five mothers and five fathers within a social group. We estimated that only 27% of adult males and 31% of adult females bred each year, suggesting a cost to group living for both sexes. Any strong motivation or selection to disperse, however, may be reduced because just under half of the paternities were gained by extra-group males, mainly from neighbouring groups, with males displaying a mixture of paternity strategies. We provide the strongest evidence to date for multiple-paternity litters, and for the first time show that within-group and extra-group males can sire cubs in the same litter. We investigate the factors that may play a role in determining the degree of delayed dispersal and conclude that the ecological constraints hypothesis, benefits of philopatry hypothesis, and life history hypothesis may all play a part, as proposed by the broad constraints hypothesis.

  18. Paternity testing in case of brother-sister incest.

    PubMed

    Macan, Marijana; Uvodić, Petra; Botica, Vladimir

    2003-06-01

    We performed a paternity test in a case of incest between brother and sister. DNA from blood samples of the alleged parents and their two children was obtained with Chelex DNA extraction method and quantified with Applied Biosystems QuantiBlot quantitation kit. Polymerase chain reaction (PCR) amplification of DNA samples was performed with AmpFlSTR SGM Plus PCR amplification kit and GenePrint PowerPlex PCR amplification kit. The amplified products were separated and detected by using the Perkin Elmer's ABI PRISM trade mark 310 Genetic Analyser. DNA and data analysis of 17 loci and Amelogenin confirmed the suspicion of brother-sister incest. Since both children had inherited all of the obligate alleles from the alleged father, we could confirm with certainty of 99.999999% that the oldest brother in the family was the biological father of both children. Calculated data showed that even in a case of brother-sister incest, paternity could be proved by the analysis of Amelogenin and 17 DNA loci.

  19. The snail's love-dart delivers mucus to increase paternity

    PubMed Central

    Chase, Ronald; Blanchard, Katrina C

    2006-01-01

    Many of the seemingly bizarre animal behaviours can be understood only by acknowledging the power of sex to shape evolution. A case in point is the so-called love-dart that some terrestrial molluscs shoot at their prospective sexual partners. Given that the likelihood of copulation is not different after solid hits than after complete misses, why do these suitors act so violently towards their chosen mates? Previously, it was shown that successful dart shooting enhances paternity. We conducted an experiment to determine whether the dart achieves its effect by a purely mechanical action or by transferring a bioactive substance. We found that injections of mucus from a gland associated with the dart more than doubled paternity relative to injections of saline. These results support the hypothesis that the dart transfers a substance capable of reconfiguring the spermatophore-receiving organs. While dart shooting probably evolved as the result of sperm competition, a role for cryptic female choice cannot be excluded. Our results imply that if cryptic female choice is operating in this system, it is likely to be based on the properties of the mucus and not on properties of the dart itself. Since we also found evidence of early-male sperm precedence, we conclude that snails can optimize their reproductive success by mating with virgins and shooting their darts accurately. PMID:16777740

  20. Effects of paternal occupational exposure on spontaneous abortions.

    PubMed Central

    Lindbohm, M L; Hemminki, K; Bonhomme, M G; Anttila, A; Rantala, K; Heikkilä, P; Rosenberg, M J

    1991-01-01

    BACKGROUND: Paternal exposure to mutagenic agents has been suggested to affect pregnancy outcome adversely. METHODS: A nationwide data base of medically diagnosed spontaneous abortions and other pregnancies and national census data was used to evaluate the effects of men's occupational exposures on risk of spontaneous abortion in 99,186 pregnancies in Finland. Census data from the years 1975 and 1980 provided information about the occupation, industry, and socioeconomic status. A job-exposure classification was developed to classify women and their husbands according to possible occupational exposures on the basis of their occupational title and industry. RESULTS: In 10% of the pregnancies, the husband was exposed to one or more of the mutagens, and the rate of spontaneous abortion was unaffected (OR = 1.0). Of the 25 specific mutagenic exposures evaluated, paternal exposure to four (ethylene oxide, rubber chemicals, solvents used in refineries, and solvents used in the manufacturing of rubber products) was associated with an increased relative risk of spontaneous abortion. In addition, the risk of spontaneous abortion was higher among wives of rubber products workers than among unexposed men. CONCLUSIONS: Although there is some biological rationale for the findings of this study, these findings need to be confirmed by studies in which individual exposures can be measured directly. PMID:1853994

  1. Normal phenotype with paternal uniparental isodisomy for chromosome 21

    SciTech Connect

    Blouin, J.L.; Avramopoulos, D. ); Pangalos, C.; Antonarakis, S.E.

    1993-11-01

    Uniparental disomy (UPD) involving several different chromosomes has been described in several cases of human pathologies. In order to investigate whether UPD for chromosome 21 is associated with abnormal phenotypes, the authors analyzed DNA polymorphisms in DNA from a family with de novo Robertsonian translocation t(21q;21q). The proband was a healthy male with 45 dup(21q) who was ascertained through his trisomy 21 offspring. No phenotypic abnormalities were noted in the physical exam, and his past medical history was unremarkable. The authors obtained genotypes for the proband and his parents' leukocyte DNAs from 17 highly informative short sequence repeat polymorphisms that map in the pericentromeric region and along the entire length of 21q. The order of the markers has been previously determined through the linkage and physical maps of this chromosome. For the nine informative markers there was no maternal allele contribution to the genotype of the proband; in addition, there was always reduction to homozygosity of a paternal allele. These data indicated that there was paternal uniparental isodisomy for chromosome 21 (pUPiD21). The authors conclude that pUPiD21 is not associated with abnormal phenotypes and that there are probably no imprinted genes on chromosome 21. 36 refs., 3 figs.

  2. Paternal age predicts offspring chances of marriage and reproduction.

    PubMed

    Fieder, Martin; Huber, Susanne

    2015-01-01

    Mutation-selection balance theory proposes that a balance of forces between constantly arising mildly harmful mutations and selection causes variation in genetic configuration and phenotypic condition. As mutations are predominantly deleterious, the entry of variation due to mutations is kept at low frequencies by selection. It has recently been demonstrated that nearly all de novo mutation are caused by paternal age. We examined on basis of the Wisconsin Longitudinal Study (n = 6,182) whether a subject's probability of having ever married as well as having ever reproduced is associated with that subject's father's age at subject's birth. We find that advanced paternal but not maternal age at subject's birth predicts a lower chance of ever being married and a higher chance of childlessness, even controlling for various confounders. As marriage is a prerequisite of reproduction in this sample, we discuss that mate choice may provide a mechanism to prevent too high mutation load in the progeny. © 2014 Wiley Periodicals, Inc.

  3. Multiple paternity in a viviparous toad with internal fertilisation.

    PubMed

    Sandberger-Loua, Laura; Feldhaar, Heike; Jehle, Robert; Rödel, Mark-Oliver

    2016-08-01

    Anurans are renowned for a high diversity of reproductive modes, but less than 1 % of species exhibit internal fertilisation followed by viviparity. In the live-bearing West African Nimba toad (Nimbaphrynoides occidentalis), females produce yolk-poor eggs and internally nourish their young after fertilisation. Birth of fully developed juveniles takes place after 9 months. In the present study, we used genetic markers (eight microsatellite loci) to assign the paternity of litters of 12 females comprising on average 9.7 juveniles. In 9 out of 12 families (75 %), a single sire was sufficient; in three families (25 %), more than one sire was necessary to explain the observed genotypes in each family. These findings are backed up with field observations of male resource defence (underground cavities in which mating takes place) as well as coercive mating attempts, suggesting that the observed moderate level of multiple paternity in a species without distinct sperm storage organs is governed by a balance of female mate choice and male reproductive strategies.

  4. Polyandry in dragon lizards: inbred paternal genotypes sire fewer offspring.

    PubMed

    Frère, Celine H; Chandrasoma, Dani; Whiting, Martin J

    2015-04-01

    Multiple mating in female animals is something of a paradox because it can either be risky (e.g., higher probability of disease transmission, social costs) or provide substantial fitness benefits (e.g., genetic bet hedging whereby the likelihood of reproductive failure is lowered). The genetic relatedness of parental units, particularly in lizards, has rarely been studied in the wild. Here, we examined levels of multiple paternity in Australia's largest agamid lizard, the eastern water dragon (Intellagama lesueurii), and determined whether male reproductive success is best explained by its heterozygosity coefficient or the extent to which it is related to the mother. Female polyandry was the norm: 2/22 clutches (9.2%) were sired by three or more fathers, 17/22 (77.2%) were sired by two fathers, and only 3/22 (13.6%) clutches were sired by one father. Moreover, we reconstructed the paternal genotypes for 18 known mother-offspring clutches and found no evidence that females were favoring less related males or that less related males had higher fitness. However, males with greater heterozygosity sired more offspring. While the postcopulatory mechanisms underlying this pattern are not understood, female water dragons likely represent another example of reproduction through cryptic means (sperm selection/sperm competition) in a lizard, and through which they may ameliorate the effects of male-driven precopulatory sexual selection.

  5. Polyandry in dragon lizards: inbred paternal genotypes sire fewer offspring

    PubMed Central

    Frère, Celine H; Chandrasoma, Dani; Whiting, Martin J

    2015-01-01

    Multiple mating in female animals is something of a paradox because it can either be risky (e.g., higher probability of disease transmission, social costs) or provide substantial fitness benefits (e.g., genetic bet hedging whereby the likelihood of reproductive failure is lowered). The genetic relatedness of parental units, particularly in lizards, has rarely been studied in the wild. Here, we examined levels of multiple paternity in Australia's largest agamid lizard, the eastern water dragon (Intellagama lesueurii), and determined whether male reproductive success is best explained by its heterozygosity coefficient or the extent to which it is related to the mother. Female polyandry was the norm: 2/22 clutches (9.2%) were sired by three or more fathers, 17/22 (77.2%) were sired by two fathers, and only 3/22 (13.6%) clutches were sired by one father. Moreover, we reconstructed the paternal genotypes for 18 known mother–offspring clutches and found no evidence that females were favoring less related males or that less related males had higher fitness. However, males with greater heterozygosity sired more offspring. While the postcopulatory mechanisms underlying this pattern are not understood, female water dragons likely represent another example of reproduction through cryptic means (sperm selection/sperm competition) in a lizard, and through which they may ameliorate the effects of male-driven precopulatory sexual selection. PMID:25937911

  6. Multiple paternity in a salamander with socially monogamous behaviour.

    PubMed

    Liebgold, Eric B; Cabe, Paul R; Jaeger, Robert G; Leberg, Paul L

    2006-11-01

    In the majority of birds and mammals, social monogamy is not congruent with genetic monogamy. No research to date has compared social and genetic monogamy in amphibians. We analysed paternity in clutches of red-backed salamanders (Plethodon cinereus), a species in which social monogamy has been demonstrated in the laboratory, and 28% of individuals in the forest are found in male-female pairs in the noncourtship season. We collected 16 clutches of eggs of P. cinereus in the southern Appalachian Mountains of Virginia and collected tail clippings from attending mothers. We genotyped embryos and adults at five microsatellite loci in order to analyse paternity of clutches. Most clutches (84.6%) had multiple sires, with two to three sires per clutch. In this study, 25% of clutches had males in addition to females attending eggs. None of the mothers of these clutches were genetically monogamous. All attending males sired some of the offspring in the clutch that they attended (between 9% and 50%) but never sired a majority in that clutch. We conclude that, at least in this population, social monogamy in P. cinereus is not concomitant with genetic monogamy.

  7. Epigenetic inheritance and evolution: A paternal perspective on dietary influences.

    PubMed

    Soubry, Adelheid

    2015-07-01

    The earliest indications for paternally induced transgenerational effects from the environment to future generations were based on a small number of long-term epidemiological studies and some empirical observations. Only recently have experimental animal models and a few analyses on human data explored the transgenerational nature of phenotypic changes observed in offspring. Changes include multiple metabolic disorders, cancer and other chronic diseases. These phenotypes cannot always be explained by Mendelian inheritance, DNA mutations or genetic damage. Hence, a new compelling theory on epigenetic inheritance is gaining interest, providing new concepts that extend Darwin's evolutionary theory. Epigenetic alterations or "epimutations" are being considered to explain transgenerational inheritance of parentally acquired traits. The responsible mechanisms for these epimutations include DNA methylation, histone modification, and RNA-mediated effects. This review explores the literature on a number of time-dependent environmentally induced epigenetic alterations, specifically those from dietary exposures. We suggest a role for the male germ line as one of nature's tools to capture messages from our continuously changing environment and to transfer this information to subsequent generations. Further, we open the discussion that the paternally inherited epigenetic information may contribute to evolutionary adaptation.

  8. Paternal influence of sperm DNA integrity on early embryonic development.

    PubMed

    Simon, L; Murphy, K; Shamsi, M B; Liu, L; Emery, B; Aston, K I; Hotaling, J; Carrell, D T

    2014-11-01

    Does sperm DNA damage affect early embryonic development? Increased sperm DNA damage adversely affects embryo quality starting at Day 2 of early embryonic development and continuing after embryo transfer, resulting in reduced implantation rates and pregnancy outcomes. Abnormalities in the sperm DNA in the form of single and double strand breaks can be assessed by an alkaline Comet assay. Some prior studies have shown a strong paternal effect of sperm DNA damage on IVF outcome, including reduced fertilization, reduced embryo quality and cleavage rates, reduced numbers of embryos developing into blastocysts, increased percentage of embryos undergoing developmental arrest, and reduced implantation and pregnancy rates. A cross-sectional study of 215 men from infertile couples undergoing assisted reproduction techniques at the University of Utah Center for Reproductive Medicine. Sperm from men undergoing ART were analyzed for DNA damage using an alkaline Comet assay and classified into three groups: 'low damage' (0-30%), 'intermediate damage' (31-70%) and 'high damage' (71-100%). The cause of couples' infertility was categorized into one of the three types (male, female or unexplained). Each embryo was categorized as 'good', 'fair' or 'poor' quality, based on the number and grade of blastomeres. The influence of sperm DNA damage on early embryonic development was observed and classified into four stages: peri-fertilization effect (fertilization rate), early paternal effect (embryonic days 1-2), late paternal effect (embryonic days 3-5) and implantation stage effect. The paternal effect of sperm DNA damage was observed at each stage of early embryonic development. The peri-fertilization effect was higher in oocytes from patients with female infertility (20.85%) compared with male (8.22%; P < 0.001) and unexplained (7.30%; P < 0.001) infertility factors. In both the early and late paternal effect stages, the low DNA damage group had a higher percentage of good quality

  9. Independent origins of Indian caste and tribal paternal lineages.

    PubMed

    Cordaux, Richard; Aunger, Robert; Bentley, Gillian; Nasidze, Ivane; Sirajuddin, S M; Stoneking, Mark

    2004-02-03

    The origins of the nearly one billion people inhabiting the Indian subcontinent and following the customs of the Hindu caste system are controversial: are they largely derived from Indian local populations (i.e. tribal groups) or from recent immigrants to India? Archaeological and linguistic evidence support the latter hypothesis, whereas recent genetic data seem to favor the former hypothesis. Here, we analyze the most extensive dataset of Indian caste and tribal Y chromosomes to date. We find that caste and tribal groups differ significantly in their haplogroup frequency distributions; caste groups are homogeneous for Y chromosome variation and more closely related to each other and to central Asian groups than to Indian tribal or any other Eurasian groups. We conclude that paternal lineages of Indian caste groups are primarily descended from Indo-European speakers who migrated from central Asia approximately 3,500 years ago. Conversely, paternal lineages of tribal groups are predominantly derived from the original Indian gene pool. We also provide evidence for bidirectional male gene flow between caste and tribal groups. In comparison, caste and tribal groups are homogeneous with respect to mitochondrial DNA variation, which may reflect the sociocultural characteristics of the Indian caste society.

  10. Multiple paternity in a viviparous toad with internal fertilisation

    NASA Astrophysics Data System (ADS)

    Sandberger-Loua, Laura; Feldhaar, Heike; Jehle, Robert; Rödel, Mark-Oliver

    2016-08-01

    Anurans are renowned for a high diversity of reproductive modes, but less than 1 % of species exhibit internal fertilisation followed by viviparity. In the live-bearing West African Nimba toad ( Nimbaphrynoides occidentalis), females produce yolk-poor eggs and internally nourish their young after fertilisation. Birth of fully developed juveniles takes place after 9 months. In the present study, we used genetic markers (eight microsatellite loci) to assign the paternity of litters of 12 females comprising on average 9.7 juveniles. In 9 out of 12 families (75 %), a single sire was sufficient; in three families (25 %), more than one sire was necessary to explain the observed genotypes in each family. These findings are backed up with field observations of male resource defence (underground cavities in which mating takes place) as well as coercive mating attempts, suggesting that the observed moderate level of multiple paternity in a species without distinct sperm storage organs is governed by a balance of female mate choice and male reproductive strategies.

  11. The nature of advocacy vs. paternalism in nursing: clarifying the 'thin line'.

    PubMed

    Zomorodi, Meg; Foley, Barbara Jo

    2009-08-01

    This paper is an exploration of the concepts of advocacy and paternalism in nursing and discusses the thin line between the two. Nurses are involved in care more than any other healthcare professionals and they play a central role in advocating for patients and families. It is difficult to obtain a clear definition of advocacy, yet the concepts of advocacy and paternalism must be compared, contrasted, and discussed extensively. In many situations, only a thin line distinguishes advocacy from paternalism. A literature search was conducted using PubMed and CINAHL databases (2000-2008) as well as a library catalogue for texts. Four case stories were described in order to discuss the 'thin line' between advocacy and paternalism and develop communication strategies to eliminate ambiguity. Weighing the ethical principles of beneficence and autonomy helps to clarify advocacy and paternalism and provides an avenue for discussion among nurses practicing in a variety of settings. Advocacy and paternalism should be discussed at interdisciplinary rounds, and taken into consideration when making patient care decisions. It is difficult to clarify advocacy vs. paternalism, but strategies such as knowing the patient, clarifying information, and educating all involved are initial steps in distinguishing advocacy from paternalism. Truly 'knowing' patients, their life experiences, values, beliefs and wishes can help clarify the 'thin line' and gain a grasp of these difficult to distinguish theoretical concepts.

  12. Regulatory role of prolactin in paternal behavior in male parents: A narrative review

    PubMed Central

    Hashemian, F; Shafigh, F; Roohi, E

    2016-01-01

    In all mammalian species, a combination of neuroendocrine and experiential factors contributes to the emergence of remarkable behavioral changes observed in parental behavior. Yet, our understanding of neuroendocrine bases of paternal behavior in humans is still preliminary and more research is needed in this area. In the present review, the authors summarized hormonal bases of paternal behavior in both human and nonhuman mammalian species and focused on studies on the regulatory role of prolactin in occurrence of paternal behavior. All peer-reviewed journal articles published before 2015 for each area discussed (parental brain, hormonal bases of maternal behavior, hormonal bases of paternal behavior and the role of prolactin in regulation of paternal behavior in nonhuman mammalian species, hormonal bases of paternal behavior and the role of prolactin in regulation of paternal behavior in humans) were searched by PubMed, Medline, and Scopus for original research and review articles. Publications between 1973 and 2015 were included. Similar to female parents, elevated prolactin levels in new fathers most probably contribute to child-caring behavior and facilitate behavioral and emotional states attributed to child care. Moreover, elevated parental prolactin levels after childbirth decrease the parents’ libidos so that they invest more in parental care than in fertility behavior. According to the available clinical studies, elevation in the amounts of prolactin levels after childbirth in male parents are probably associated with paternal behavior observed in humans. PMID:27424551

  13. Father-Son Inter-Generational Transmission of Authoritarian Paternal Attitudes.

    ERIC Educational Resources Information Center

    Peretti, Peter O.; Statum, Jo Ann

    1984-01-01

    Attempted to determine authoritarian paternal attitude inter-generational transmission in fathers and sons (N=75). Results suggested that authoritarian paternal attitudes could be indicated in terms of five factors: Dominant, Rigidity, Conformity, Intolerant, and Uncreative; and that the sons expressed strongly the authoritarian attitudes of their…

  14. Paternal Child Care and Relationship Quality: A Longitudinal Analysis of Reciprocal Associations

    ERIC Educational Resources Information Center

    Schober, Pia S.

    2012-01-01

    This study explored reciprocal associations between paternal child-care involvement and relationship quality by following British couples from the birth of a child until he or she reached school age. It extends the literature by distinguishing between paternal engagement in absolute terms and relative to the mother and by considering relationship…

  15. Prevalence and risk factors for adult paternity among adolescent females ages 14 through 16 years.

    PubMed

    Castrucci, Brian C; Clark, Jamie; Lewis, Kayan; Samsel, Rachel; Mirchandani, Gita

    2010-11-01

    To investigate sociodemographic factors associated with adolescent females ages 14-16 years having children fathered by males age 20 years or older and identify differences in correlates across rural, urban, and border areas. The method section was a cross-sectional study using Texas birth record data. From 2000 through 2004, there were 29,186 births to adolescent females aged 14-16 years with valid paternal age. Prevalence of and adjusted odds of paternal age of 20 years or older were identified by paternal and maternal factors. The Results section Having both parents born outside of the U.S. was associated with a 5.29 (95% CI: 4.82, 5.80) times increase in the odds of paternal age of 20 years or older as compared to having both parents born in the U.S. Parental place of birth was associated with greater odds of paternal age of 20 years or older in urban areas compared to rural or border areas. Compared to those with average or high educational attainment relative to age, low educational attainment relative to age was associated with an increase in the odds of paternal age of 20 years or older. This association was present whether maternal or paternal educational attainment was low relative to age. Messages are needed to help adolescent females avoid pregnancy with adult males. In addressing this specific prevention challenge, it is important to consider maternal/paternal place of birth and its association with adolescent births with adult males.

  16. Brief Report: Phenotypic Differences and Their Relationship to Paternal Age and Gender in Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Vierck, Esther; Silverman, Jeremy M.

    2015-01-01

    Two modes of inheritance have been proposed in autism spectrum disorder, transmission though pre-existing variants and de novo mutations. Different modes may lead to different symptom expressions in affected individuals. De novo mutations become more likely with advancing paternal age suggesting that paternal age may predict phenotypic…

  17. Brief Report: Phenotypic Differences and Their Relationship to Paternal Age and Gender in Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Vierck, Esther; Silverman, Jeremy M.

    2015-01-01

    Two modes of inheritance have been proposed in autism spectrum disorder, transmission though pre-existing variants and de novo mutations. Different modes may lead to different symptom expressions in affected individuals. De novo mutations become more likely with advancing paternal age suggesting that paternal age may predict phenotypic…

  18. Quantitative Genetics Identifies Cryptic Genetic Variation Involved in the Paternal Regulation of Seed Development

    PubMed Central

    Pires, Nuno D.; Bemer, Marian; Müller, Lena M.; Baroux, Célia; Spillane, Charles; Grossniklaus, Ueli

    2016-01-01

    Embryonic development requires a correct balancing of maternal and paternal genetic information. This balance is mediated by genomic imprinting, an epigenetic mechanism that leads to parent-of-origin-dependent gene expression. The parental conflict (or kinship) theory proposes that imprinting can evolve due to a conflict between maternal and paternal alleles over resource allocation during seed development. One assumption of this theory is that paternal alleles can regulate seed growth; however, paternal effects on seed size are often very low or non-existent. We demonstrate that there is a pool of cryptic genetic variation in the paternal control of Arabidopsis thaliana seed development. Such cryptic variation can be exposed in seeds that maternally inherit a medea mutation, suggesting that MEA acts as a maternal buffer of paternal effects. Genetic mapping using recombinant inbred lines, and a novel method for the mapping of parent-of-origin effects using whole-genome sequencing of segregant bulks, indicate that there are at least six loci with small, paternal effects on seed development. Together, our analyses reveal the existence of a pool of hidden genetic variation on the paternal control of seed development that is likely shaped by parental conflict. PMID:26811909

  19. Quantitative Genetics Identifies Cryptic Genetic Variation Involved in the Paternal Regulation of Seed Development.

    PubMed

    Pires, Nuno D; Bemer, Marian; Müller, Lena M; Baroux, Célia; Spillane, Charles; Grossniklaus, Ueli

    2016-01-01

    Embryonic development requires a correct balancing of maternal and paternal genetic information. This balance is mediated by genomic imprinting, an epigenetic mechanism that leads to parent-of-origin-dependent gene expression. The parental conflict (or kinship) theory proposes that imprinting can evolve due to a conflict between maternal and paternal alleles over resource allocation during seed development. One assumption of this theory is that paternal alleles can regulate seed growth; however, paternal effects on seed size are often very low or non-existent. We demonstrate that there is a pool of cryptic genetic variation in the paternal control of Arabidopsis thaliana seed development. Such cryptic variation can be exposed in seeds that maternally inherit a medea mutation, suggesting that MEA acts as a maternal buffer of paternal effects. Genetic mapping using recombinant inbred lines, and a novel method for the mapping of parent-of-origin effects using whole-genome sequencing of segregant bulks, indicate that there are at least six loci with small, paternal effects on seed development. Together, our analyses reveal the existence of a pool of hidden genetic variation on the paternal control of seed development that is likely shaped by parental conflict.

  20. Paternal Involvement and the Development of Gender Expectations in Sons and Daughters.

    ERIC Educational Resources Information Center

    Hardesty, Constance; And Others

    1995-01-01

    Data from a longitudinal study of 2,000 children concerning paternal involvement, the father-child relationship, and effects on gender role expectations of sons and daughters suggest that the development of egalitarian views about work and parenthood depend less on paternal involvement than on the nature of that involvement. (SLD)

  1. Paternal Incarceration and Children's Physically Aggressive Behaviors: Evidence from the Fragile Families and Child Wellbeing Study

    ERIC Educational Resources Information Center

    Wildeman, Christopher

    2010-01-01

    This study extends research on the consequences of mass imprisonment and the causes of children's behavioral problems by considering the effects of paternal incarceration on children's physical aggression at age 5 using data from the Fragile Families and Child Wellbeing Study. Results suggest that paternal incarceration is associated with…

  2. Mechanisms of Association between Paternal Alcoholism and Abuse of Alcohol and Other Illicit Drugs among Adolescents

    ERIC Educational Resources Information Center

    Peleg-Oren, Neta; Hospital, Michelle; Morris, Staci Leon; Wagner, Eric F.

    2013-01-01

    The current study examines the effect of paternal alcohol problems on adolescent use of alcohol and other illicit drugs as a function of maternal communication, as well as adolescent social and coping skills (N = 145). Structural equation modeling (SEM) analyses indicated that adolescents with a paternal history of alcohol problems reported higher…

  3. Current Issues in Maternal and Paternal Deprivation. Unit for Child Studies Selected Papers Number 6.

    ERIC Educational Resources Information Center

    Phillips, Shelley

    An overview of some major current issues in maternal and paternal deprivation is presented. Parts I and II focus on (1) single parents and issues in paternal deprivation and (2) sex stereotyping and issues in maternal deprivation, respectively. More particularly, Part I discusses the effects of divorce and death on children and the problem of…

  4. Regulatory role of prolactin in paternal behavior in male parents: A narrative review.

    PubMed

    Hashemian, F; Shafigh, F; Roohi, E

    2016-01-01

    In all mammalian species, a combination of neuroendocrine and experiential factors contributes to the emergence of remarkable behavioral changes observed in parental behavior. Yet, our understanding of neuroendocrine bases of paternal behavior in humans is still preliminary and more research is needed in this area. In the present review, the authors summarized hormonal bases of paternal behavior in both human and nonhuman mammalian species and focused on studies on the regulatory role of prolactin in occurrence of paternal behavior. All peer-reviewed journal articles published before 2015 for each area discussed (parental brain, hormonal bases of maternal behavior, hormonal bases of paternal behavior and the role of prolactin in regulation of paternal behavior in nonhuman mammalian species, hormonal bases of paternal behavior and the role of prolactin in regulation of paternal behavior in humans) were searched by PubMed, Medline, and Scopus for original research and review articles. Publications between 1973 and 2015 were included. Similar to female parents, elevated prolactin levels in new fathers most probably contribute to child-caring behavior and facilitate behavioral and emotional states attributed to child care. Moreover, elevated parental prolactin levels after childbirth decrease the parents' libidos so that they invest more in parental care than in fertility behavior. According to the available clinical studies, elevation in the amounts of prolactin levels after childbirth in male parents are probably associated with paternal behavior observed in humans.

  5. Mechanisms of Association between Paternal Alcoholism and Abuse of Alcohol and Other Illicit Drugs among Adolescents

    ERIC Educational Resources Information Center

    Peleg-Oren, Neta; Hospital, Michelle; Morris, Staci Leon; Wagner, Eric F.

    2013-01-01

    The current study examines the effect of paternal alcohol problems on adolescent use of alcohol and other illicit drugs as a function of maternal communication, as well as adolescent social and coping skills (N = 145). Structural equation modeling (SEM) analyses indicated that adolescents with a paternal history of alcohol problems reported higher…

  6. Paternal Autonomy Restriction, Neighborhood Safety, and Child Anxiety Trajectory in Community Youth

    PubMed Central

    Cooper-Vince, Christine E.; Chan, Priscilla T.; Pincus, Donna B.; Comer, Jonathan S.

    2014-01-01

    Intrusive parenting, primarily examined among middle to upper-middle class mothers, has been positively associated with the presence and severity of anxiety in children. This study employed cross-sectional linear regression and longitudinal latent growth curve analyses to evaluate the main and interactive effects of early childhood paternal autonomy restriction (AR) and neighborhood safety (NS) on the trajectory of child anxiety in a sample of 596 community children and fathers from the NICHD SECYD. Longitudinal analyses revealed that greater paternal AR at age 6 was actually associated with greater decreases in child anxiety in later childhood. Cross-sectional analyses revealed main effects for NS across childhood, and interactive effects of paternal AR and NS that were present only in early childhood, whereby children living in safer neighborhoods demonstrated increased anxiety when experiencing lower levels of paternal AR. Findings further clarify for whom and when paternal AR impacts child anxiety in community youth. PMID:25242837

  7. Parents’ Relative Socioeconomic Status and Paternal Involvement in Chinese Families: The Mediating Role of Coparenting

    PubMed Central

    Liu, Chang; Wu, Xinchun; Zou, Shengqi

    2016-01-01

    This study examined the mediating role of coparenting in the association between differences/similarities in paternal and maternal socioeconomic status (SES) and paternal involvement in Chinese families. The sample included 244 couples with children aged 3–7 years. Fathers and mothers reported their individual incomes, educational levels, occupations, and coparenting behavior (measured using the Coparenting Scale), and fathers completed the Father Involvement Questionnaire. Structural equation modeling was performed to examine the associations between SES and paternal involvement. Results suggested that SES indicator measures were outcome specific. Occupational differences/similarities were associated with paternal involvement indirectly, via fathers’ family integrity practices. Income and educational differences/similarities did not affect paternal involvement. The results suggested that the traditional Chinese view that “men are chiefly responsible for activity in society, while women are responsible for the home” has faded. PMID:27445908

  8. Parents' Relative Socioeconomic Status and Paternal Involvement in Chinese Families: The Mediating Role of Coparenting.

    PubMed

    Liu, Chang; Wu, Xinchun; Zou, Shengqi

    2016-01-01

    This study examined the mediating role of coparenting in the association between differences/similarities in paternal and maternal socioeconomic status (SES) and paternal involvement in Chinese families. The sample included 244 couples with children aged 3-7 years. Fathers and mothers reported their individual incomes, educational levels, occupations, and coparenting behavior (measured using the Coparenting Scale), and fathers completed the Father Involvement Questionnaire. Structural equation modeling was performed to examine the associations between SES and paternal involvement. Results suggested that SES indicator measures were outcome specific. Occupational differences/similarities were associated with paternal involvement indirectly, via fathers' family integrity practices. Income and educational differences/similarities did not affect paternal involvement. The results suggested that the traditional Chinese view that "men are chiefly responsible for activity in society, while women are responsible for the home" has faded.

  9. Longitudinal associations among fathers' perception of coparenting, partner relationship quality, and paternal stress during early childhood.

    PubMed

    Fagan, Jay; Lee, Yookyong

    2014-03-01

    This study examined the longitudinal and concurrent associations among fathers' perceptions of partner relationship quality (happiness, conflict), coparenting (shared decision making, conflict), and paternal stress. The sample consisted of 6,100 children who lived with both biological parents at 24 and 48 months in the Early Childhood Longitudinal Study-Birth Cohort data set. The results showed that there are significant and concurrent associations between fathers' perceptions of the coparenting relationship and paternal stress, and between partner relationship quality and paternal stress. There was also a positive direct longitudinal association between partner relationship conflict and paternal stress. However, we found only one longitudinal cross-system mediation effect: fathers' perception of coparenting conflict at 48 months mediated the association between partner relationship conflict at 24 months and paternal stress at 48 months. The family practice implications of these findings are discussed. © 2013 FPI, Inc.

  10. Determination of paternity in dragonflies by Random Amplified Polymorphic DNA fingerprinting.

    PubMed

    Hadrys, H; Schierwater, B; Dellaporta, S L; DeSalle, R; Buss, L W

    1993-04-01

    We used Random Amplified Polymorphic DNA (RAPD) fingerprinting to address issues of paternity in two odonate species. Amplification artifacts of RAPD markers were controlled by assessing paternity patterns relative to the banding patterns generated by quantitative mixtures of DNA from putative parents ('synthetic offspring'). In the aeshnid dragonfly Anax parthenope, for which the mating histories of both males and females were unknown, we found strong evidence for complete paternity success for the contact guarding male. In the highly polygamous libellulid dragonfly Orthetrum coerulescens, we detected and quantified mixed paternity in sequentially produced offspring clutches and demonstrated that fertilization success is correlated with the duration of copulation. Our results suggest that RAPD fingerprinting is suitable to address issues of paternity in systems which are genetically uncharacterized and produce large offspring clutches.

  11. Paternal Autonomy Restriction, Neighborhood Safety, and Child Anxiety Trajectory in Community Youth.

    PubMed

    Cooper-Vince, Christine E; Chan, Priscilla T; Pincus, Donna B; Comer, Jonathan S

    2014-07-01

    Intrusive parenting, primarily examined among middle to upper-middle class mothers, has been positively associated with the presence and severity of anxiety in children. This study employed cross-sectional linear regression and longitudinal latent growth curve analyses to evaluate the main and interactive effects of early childhood paternal autonomy restriction (AR) and neighborhood safety (NS) on the trajectory of child anxiety in a sample of 596 community children and fathers from the NICHD SECYD. Longitudinal analyses revealed that greater paternal AR at age 6 was actually associated with greater decreases in child anxiety in later childhood. Cross-sectional analyses revealed main effects for NS across childhood, and interactive effects of paternal AR and NS that were present only in early childhood, whereby children living in safer neighborhoods demonstrated increased anxiety when experiencing lower levels of paternal AR. Findings further clarify for whom and when paternal AR impacts child anxiety in community youth.

  12. Paternal involvement in Multisystemic Therapy: effects on adolescent outcomes and maternal depression.

    PubMed

    Gervan, Shannon; Granic, Isabela; Solomon, Tracy; Blokland, Kirsten; Ferguson, Bruce

    2012-06-01

    The association between paternal involvement in therapy, adolescent outcomes and maternal depression was examined within the context of Multisystemic Therapy (MST), an empirically supported, family- and community-based treatment for antisocial adolescents. Ninety-nine families were recruited from five mental health agencies providing MST. We compared families with paternal involvement in therapy (PIT) to families with no paternal involvement in therapy (NPIT) in pre-post change in adolescents' externalizing and internalizing behaviours and also in maternal depression. There was a significant reduction in both groups in externalizing and internalizing behaviours. However, the magnitude of improvement was significantly greater for the PIT families. Both groups saw a significant reduction in maternal depression but no significant group differences were found. Results suggest that if possible, paternal figures should be encouraged to actively participate in therapy, as adolescents outcomes are enhanced when mothers and paternal figures participate in MST together.

  13. Female mate choice predicts paternity success in the absence of additive genetic variance for other female paternity bias mechanisms in Drosophila serrata.

    PubMed

    Collet, J M; Blows, M W

    2014-11-01

    After choosing a first mate, polyandrous females have access to a range of opportunities to bias paternity, such as repeating matings with the preferred male, facilitating fertilization from the best sperm or differentially investing in offspring according to their sire. Female ability to bias paternity after a first mating has been demonstrated in a few species, but unambiguous evidence remains limited by the access to complex behaviours, sperm storage organs and fertilization processes within females. Even when found at the phenotypic level, the potential evolution of any mechanism allowing females to bias paternity other than mate choice remains little explored. Using a large population of pedigreed females, we developed a simple test to determine whether there is additive genetic variation in female ability to bias paternity after a first, chosen, mating. We applied this method in the highly polyandrous Drosophila serrata, giving females the opportunity to successively mate with two males ad libitum. We found that despite high levels of polyandry (females mated more than once per day), the first mate choice was a significant predictor of male total reproductive success. Importantly, there was no detectable genetic variance in female ability to bias paternity beyond mate choice. Therefore, whether or not females can bias paternity before or after copulation, their role on the evolution of sexual male traits is likely to be limited to their first mate choice in D. serrata.

  14. Female and male genetic effects on offspring paternity: additive genetic (co)variances in female extra-pair reproduction and male paternity success in song sparrows (Melospiza melodia).

    PubMed

    Reid, Jane M; Arcese, Peter; Keller, Lukas F; Losdat, Sylvain

    2014-08-01

    Ongoing evolution of polyandry, and consequent extra-pair reproduction in socially monogamous systems, is hypothesized to be facilitated by indirect selection stemming from cross-sex genetic covariances with components of male fitness. Specifically, polyandry is hypothesized to create positive genetic covariance with male paternity success due to inevitable assortative reproduction, driving ongoing coevolution. However, it remains unclear whether such covariances could or do emerge within complex polyandrous systems. First, we illustrate that genetic covariances between female extra-pair reproduction and male within-pair paternity success might be constrained in socially monogamous systems where female and male additive genetic effects can have opposing impacts on the paternity of jointly reared offspring. Second, we demonstrate nonzero additive genetic variance in female liability for extra-pair reproduction and male liability for within-pair paternity success, modeled as direct and associative genetic effects on offspring paternity, respectively, in free-living song sparrows (Melospiza melodia). The posterior mean additive genetic covariance between these liabilities was slightly positive, but the credible interval was wide and overlapped zero. Therefore, although substantial total additive genetic variance exists, the hypothesis that ongoing evolution of female extra-pair reproduction is facilitated by genetic covariance with male within-pair paternity success cannot yet be definitively supported or rejected either conceptually or empirically.

  15. FEMALE AND MALE GENETIC EFFECTS ON OFFSPRING PATERNITY: ADDITIVE GENETIC (CO)VARIANCES IN FEMALE EXTRA-PAIR REPRODUCTION AND MALE PATERNITY SUCCESS IN SONG SPARROWS (MELOSPIZA MELODIA)

    PubMed Central

    Reid, Jane M; Arcese, Peter; Keller, Lukas F; Losdat, Sylvain

    2014-01-01

    Ongoing evolution of polyandry, and consequent extra-pair reproduction in socially monogamous systems, is hypothesized to be facilitated by indirect selection stemming from cross-sex genetic covariances with components of male fitness. Specifically, polyandry is hypothesized to create positive genetic covariance with male paternity success due to inevitable assortative reproduction, driving ongoing coevolution. However, it remains unclear whether such covariances could or do emerge within complex polyandrous systems. First, we illustrate that genetic covariances between female extra-pair reproduction and male within-pair paternity success might be constrained in socially monogamous systems where female and male additive genetic effects can have opposing impacts on the paternity of jointly reared offspring. Second, we demonstrate nonzero additive genetic variance in female liability for extra-pair reproduction and male liability for within-pair paternity success, modeled as direct and associative genetic effects on offspring paternity, respectively, in free-living song sparrows (Melospiza melodia). The posterior mean additive genetic covariance between these liabilities was slightly positive, but the credible interval was wide and overlapped zero. Therefore, although substantial total additive genetic variance exists, the hypothesis that ongoing evolution of female extra-pair reproduction is facilitated by genetic covariance with male within-pair paternity success cannot yet be definitively supported or rejected either conceptually or empirically. PMID:24724612

  16. Paternal retrievals increase testosterone levels in both male and female California mouse (Peromyscus californicus) offspring.

    PubMed

    Chary, Mamatha C; Cruz, Jayson P; Bardi, Massimo; Becker, Elizabeth A

    2015-07-01

    The importance of maternal care on offspring development has received considerable attention, although more recently, researchers have begun to focus on the significance of paternal contributions. In the monogamous and bi-parental California mouse, fathers provide high levels of care, and therefore serve as a model system for studying paternal effects on behavior and underlying neuroendocrine mechanisms. Paternal retrievals in this species influence long term changes in brain (expression of arginine vasopressin-AVP) and behavior (aggression and parenting) in adult male offspring. Further, paternal retrievals induce a transient increase in testosterone (T) in male offspring, which is thought to mediate the relationship between paternal retrievals and AVP expression. Although the father-son relationship has been well characterized, few studies have examined father-daughter interactions. In California mice, paternal retrievals increase aggression in female offspring. Although T has been implicated in the regulation of female aggression, it remains unclear whether T may underlie long-term changes in female offspring aggression in response to paternal retrievals. In the current study, we examined the influence of paternal retrievals on T in both male and female offspring. Retrievals were manipulated experimentally by displacement of the pup and trunk blood was collected from retrieved, non-retrieved, and non-manipulated (baseline) pups. We found that fathers expressed similar levels of retrievals towards sons and daughters, and that T levels were elevated in retrieved, as compared to non-retrieved offspring. Similar to what has been previously described in male offspring and replicated here, female offspring that were retrieved had higher T levels than non-retrieved females. Neither females nor males experienced a change in corticosterone levels in response to retrievals suggesting offspring do not mount a stress response to paternal care. Therefore, our data suggest

  17. Association of missing paternal demographics on infant birth certificates with perinatal risk factors for childhood obesity.

    PubMed

    Cheng, Erika R; Hawkins, Summer Sherburne; Rifas-Shiman, Sheryl L; Gillman, Matthew W; Taveras, Elsie M

    2016-07-14

    The role of fathers in the development of obesity in their offspring remains poorly understood. We evaluated associations of missing paternal demographic information on birth certificates with perinatal risk factors for childhood obesity. Data were from the Linked CENTURY Study, a database linking birth certificate and well-child visit data for 200,258 Massachusetts children from 1980-2008. We categorized participants based on the availability of paternal age, education, or race/ethnicity and maternal marital status on the birth certificate: (1) pregnancies missing paternal data; (2) pregnancies involving unmarried women with paternal data; and (3) pregnancies involving married women with paternal data. Using linear and logistic regression, we compared differences in smoking during pregnancy, gestational diabetes, birthweight, breastfeeding initiation, and ever recording a weight for length (WFL) ≥ the 95th percentile or crossing upwards ≥2 WFL percentiles between 0-24 months among the study groups. 11,989 (6.0 %) birth certificates were missing paternal data; 31,323 (15.6 %) mothers were unmarried. In adjusted analyses, missing paternal data was associated with lower birthweight (β -0.07 kg; 95 % CI: -0.08, -0.05), smoking during pregnancy (AOR 4.40; 95 % CI: 3.97, 4.87), non-initiation of breastfeeding (AOR 0.39; 95 % CI: 0.36, 0.42), and with ever having a WFL ≥ 95th percentile (AOR 1.10; 95 % CI: 1.01, 1.20). Similar associations were noted for pregnancies involving unmarried women with paternal data, but differences were less pronounced. Missing paternal data on the birth certificate is associated with perinatal risk factors for childhood obesity. Efforts to understand and reduce obesity risk factors in early life may need to consider paternal factors.

  18. Trajectories Leading to Autism Spectrum Disorders Are Affected by Paternal Age: Findings from Two Nationally Representative Twin Studies

    ERIC Educational Resources Information Center

    Lundstrom, Sebastian; Haworth, Claire M. A.; Carlstrom, Eva; Gillberg, Christopher; Mill, Jonathan; Rastam, Maria; Hultman, Christina M.; Ronald, Angelica; Anckarsater, Henrik; Plomin, Robert; Lichtenstein, Paul; Reichenberg, Abraham

    2010-01-01

    Background: Despite extensive efforts, the causes of autism remain unknown. Advancing paternal age has been associated with various neurodevelopmental disorders. We aim to investigate three unresolved questions: (a) What is the association between paternal age and autism spectrum disorders (ASD)?; (b) Does paternal age moderate the genetic and…

  19. Trajectories Leading to Autism Spectrum Disorders Are Affected by Paternal Age: Findings from Two Nationally Representative Twin Studies

    ERIC Educational Resources Information Center

    Lundstrom, Sebastian; Haworth, Claire M. A.; Carlstrom, Eva; Gillberg, Christopher; Mill, Jonathan; Rastam, Maria; Hultman, Christina M.; Ronald, Angelica; Anckarsater, Henrik; Plomin, Robert; Lichtenstein, Paul; Reichenberg, Abraham

    2010-01-01

    Background: Despite extensive efforts, the causes of autism remain unknown. Advancing paternal age has been associated with various neurodevelopmental disorders. We aim to investigate three unresolved questions: (a) What is the association between paternal age and autism spectrum disorders (ASD)?; (b) Does paternal age moderate the genetic and…

  20. Consistent male-male paternity differences across female genotypes.

    PubMed

    Sherman, Craig D H; Wapstra, Erik; Olsson, Mats

    2009-04-23

    In a recent paper, we demonstrated that male-female genetic relatedness determines male probability of paternity in experimental sperm competition in the Peron's tree frog (Litoria peronii), with a more closely related male outcompeting his rival. Here, we test the hypothesis that a male-male difference in siring success with one female significantly predicts the corresponding difference in siring success with another female. With male sperm concentration held constant, and the proportion of viable sperm controlled statistically, the male-male difference in siring success with one female strongly predicted the corresponding difference in siring success with another female, and alone explained more than 62 per cent of the variance in male-male siring differences. This study demonstrates that male siring success is primarily dictated by among-male differences in innate siring success with less influence of male-female relatedness.

  1. Autonomy, Paternalism, and Justice: Ethical Priorities in Public Health

    PubMed Central

    Buchanan, David R.

    2008-01-01

    With attention to the field of public health ethics growing, significant time has been devoted to identifying a sound ethical justification for paternalistic interventions that override individual autonomy to prevent people from adopting unhealthy behaviors. Efforts focused on specifying the conditions that warrant paternalism, however, are largely misplaced. On empirical and ethical grounds, public health should seek instead to expand individual autonomy to improve population health. To promote autonomy, the field should redirect current efforts toward clarifying principles of justice. Although public health’s most highly visible stance is associated with an egalitarian conception of “social justice,” it is imperative that public health professionals address gaping divisions in public understandings of justice. I present recommendations for initiating this process. PMID:18048780

  2. Paternal phylogeography and genetic diversity of East Asian goats.

    PubMed

    Waki, A; Sasazaki, S; Kobayashi, E; Mannen, H

    2015-06-01

    This study was a first analysis of paternal genetic diversity for extensive Asian domestic goats using SRY gene sequences. Sequencing comparison of the SRY 3'-untranslated region among 210 Asian goats revealed four haplotypes (Y1A, Y1B, Y2A and Y2B) derived from four variable sites including a novel substitution detected in this study. In Asian goats, the predominant haplotype was Y1A (62%) and second most common was Y2B (30%). Interestingly, the Y2B was a unique East Asian Y chromosomal variant, which differentiates eastern and western Eurasian goats. The SRY geographic distribution in Myanmar and Cambodia indicated predominant the haplotype Y1A in plains areas and a high frequency of Y2B in mountain areas. The results suggest recent genetic infiltration of modern breeds into South-East Asian goats and an ancestral SRY Y2B haplotype in Asian native goats.

  3. Paternally biased cpDNA inheritance in Turnera ulmifolia (Turneraceae).

    PubMed

    Shore, J; Triassi, M

    1998-03-01

    We end-labeled Hin fI restriction digests of a PCR-amplified plastid encoded gene, the large subunit of ribulose bisphosphate carboxylase, to investigate patterns of cpDNA inheritance in Turnera ulmifolia. A total of 70 progeny from crosses among plants taken from ten populations revealed varying patterns of inheritance. A majority of progeny inherited the paternal cpDNA (64%), while 19% exhibited maternal and 17% biparental inheritance. Eight variegated progeny showed biparental inheritance and were analyzed in greater detail. We extracted and analyzed the cpDNA content of light- vs. dark- green leaf sectors from these plants. The results showed that vegetative segregation of cpDNA had occurred for seven of the eight plants.

  4. Brain death, paternalism, and the language of "death".

    PubMed

    Nair-Collins, Michael

    2013-03-01

    The controversy surrounding the dead donor rule and the adequacy of neurological criteria for death continues unabated. However, despite disagreement on fundamental theoretical questions, I argue that there is significant (but not complete) agreement on the permissibility of organ retrieval from heart-beating donors. Many disagreements are rooted in disputes surrounding language meaning and use, rather than the practices of transplant medicine. Thus I suggest that the debate can be fruitfully recast in terms of a dispute about language. Given this recasting, I argue that the language used to describe organ donation is misleading and paternalistic. Finally, I suggest that the near-agreement on the permissibility of heart-beating organ retrieval ought to be reconsidered. If the paternalism is not justified, then either the language used to describe organ transplantation must change radically, or it would seem to follow that much of the transplant enterprise lacks ethical justification.

  5. Human paternal lineages, languages, and environment in the Caucasus.

    PubMed

    Tarkhnishvili, David; Gavashelishvili, Alexander; Murtskhvaladze, Marine; Gabelaia, Mariam; Tevzadze, Gigi

    2014-01-01

    Publications that describe the composition of the human Y-DNA haplogroup in diffferent ethnic or linguistic groups and geographic regions provide no explicit explanation of the distribution of human paternal lineages in relation to specific ecological conditions. Our research attempts to address this topic for the Caucasus, a geographic region that encompasses a relatively small area but harbors high linguistic, ethnic, and Y-DNA haplogroup diversity. We genotyped 224 men that identified themselves as ethnic Georgian for 23 Y-chromosome short tandem-repeat markers and assigned them to their geographic places of origin. The genotyped data were supplemented with published data on haplogroup composition and location of other ethnic groups of the Caucasus. We used multivariate statistical methods to see if linguistics, climate, and landscape accounted for geographical diffferences in frequencies of the Y-DNA haplogroups G2, R1a, R1b, J1, and J2. The analysis showed significant associations of (1) G2 with wellforested mountains, (2) J2 with warm areas or poorly forested mountains, and (3) J1 with poorly forested mountains. R1b showed no association with environment. Haplogroups J1 and R1a were significantly associated with Daghestanian and Kipchak speakers, respectively, but the other haplogroups showed no such simple associations with languages. Climate and landscape in the context of competition over productive areas among diffferent paternal lineages, arriving in the Caucasus in diffferent times, have played an important role in shaping the present-day spatial distribution of patrilineages in the Caucasus. This spatial pattern had formed before linguistic subdivisions were finally shaped, probably in the Neolithic to Bronze Age. Later historical turmoil had little influence on the patrilineage composition and spatial distribution. Based on our results, the scenario of postglacial expansions of humans and their languages to the Caucasus from the Middle East, western

  6. Siring Success and Paternal Effects in Heterodichogamous Acer opalus

    PubMed Central

    Gleiser, Gabriela; Segarra-Moragues, José Gabriel; Pannell, John Richard; Verdú, Miguel

    2008-01-01

    Background and Aims Heterodichogamy (a dimorphic breeding system comprising protandrous and protogynous individuals) is a potential starting point in the evolution of dioecy from hermaphroditism. In the genus Acer, previous work suggests that dioecy evolved from heterodichogamy through an initial spread of unisexual males. Here, the question is asked as to whether the different morphs in Acer opalus, a species in which males co-exist with heterodichogamous hermaphrodites, differ in various components of male in fitness. Methods Several components of male fertility were analysed. Pollination rates in the male phase were recorded across one flowering period. Pollen viability was compared among morphs through hand pollinations both with pollen from a single sexual morph and also simulating a situation of pollen competition; in the latter experiment, paternity was assessed with microsatellite markers. It was also determined whether effects of genetic relatedness between pollen donors and recipients could influence the siring success. Finally, paternal effects occurring beyond the fertilization process were tested for by measuring the height reached by seedlings with different sires over three consecutive growing seasons. Key Results The males and protandrous morphs had higher pollination rates than the protogynous morph, and the seedlings they sired grew taller. No differences in male fertility were found between males and protandrous individuals. Departures from random mating due to effects of genetic relatedness among sires and pollen recipients were also ruled out. Conclusions Males and protandrous individuals are probably better sires than protogynous individuals, as shown by the higher pollination rates and the differential growth of the seedlings sired by these morphs. In contrast, the fertility of males was not higher than the male fertility of the protandrous morph. While the appearance of males in sexually specialized heterodichogamous populations is possible

  7. Trans-generational parasite protection associated with paternal diet.

    PubMed

    Sternberg, Eleanore D; de Roode, Jacobus C; Hunter, Mark D

    2015-01-01

    Multiple generations of hosts are often exposed to the same pathogens, favouring the evolution of trans-generational defences. Because females have more opportunities to transfer protective molecules to offspring, many studies have focused on maternally derived protection. However, males of many species can transfer compounds along with sperm, including chemicals that could provide protection. Here, we assess maternally and paternally derived protection in a monarch butterfly-protozoan parasite system where parasite resistance is heavily influenced by secondary plant chemicals, known as cardenolides, present in the larval diet of milkweed plants. We reared monarch butterflies on medicinal and non-medicinal milkweed species and then measured resistance of their offspring to infection. We also measured cardenolide content in adult monarchs reared on the two species, and in the eggs that they produced. We found that offspring were more resistant to infection when their fathers were reared on medicinal milkweed, while maternal diet had less of an effect. We also found that eggs contained the highest levels of cardenolides when both parents were reared on the medicinal species. Moreover, females reared on non-medicinal milkweed produced eggs with significantly higher levels of cardenolides if they mated with males reared on the medicinal milkweed species. However, we found an equivocal relationship between the cardenolides present in eggs and parasite resistance in the offspring. Our results demonstrate that males reared on medicinal plants can transfer protection to their offspring, but the exact mechanism remains unresolved. This suggests that paternal protection from parasitism might be important, particularly when there are environmental sources of parasite resistance and when males transfer spermatophores during mating. © 2014 The Authors. Journal of Animal Ecology © 2014 British Ecological Society.

  8. Genetic variation in paternal investment in a seed beetle.

    PubMed

    Savalli; Fox

    1998-10-01

    Males of many species invest resources in their offspring. For paternal investment to evolve, it must exhibit heritable variation. Using a standard half-sibling quantitative genetic design, we investigated whether genetic variation in male ejaculate size, a trait that affects female fecundity and copulation duration, are present in the seed beetle Callosobruchus maculatus. Ejaculate size was estimated as the amount of weight lost by males during mating. Dams, but not sires, had significant effects on their sons' absolute ejaculate size (both replicates) and relative ejaculate size (proportion of body weight; one replicate only), explaining 21-25% of the variance in absolute ejaculate size and 8-16% of the variance in relative ejaculate size. These results suggest either a large maternal effect on ejaculate size or sex-linkage of loci that affect the variation in ejaculate size. The proportion of phenotypic variance explained by sex- linkage (assuming no maternal effects) was 42 and 49% (ejaculate size) and 17 and 31% (relative ejaculate size) in the two replicates. These results indicate that male paternal investment can respond to selection, and that it may be able to do so especially rapidly because sex-linked traits have the potential to evolve much more quickly than autosomal traits. There were only weak negative correlations between ejaculate size and mating duration, contrary to what we predicted. There was additive genetic variation in female copulation duration, but not in male copulation duration, suggesting that copulation duration is under female control. Copyright 1998 The Association for the Study of Animal Behaviour.

  9. Paternalism and factitious disorder: medical treatment in illness deception.

    PubMed

    Fry, Anthony; Gergel, Tania L

    2016-08-01

    The primary aims are to consider whether a range of paternalistic medical interventions can be justified in the treatment of factitious disorder (FD) and to show that the particularities of FD and its management make it an ideal phenomenon to highlight the difficulties of balancing respect for self-determination, responsibility and duty of care in psychiatry. FD is usually classified as a mental disorder involving deliberate and hidden feigning or inducement of illness, in order to achieve patient status. Both the nature of the disorder and the approach to treatment are controversial and under-researched. It is argued that FD should be classified as a mental disorder; may well expose the patient to extreme risk; can warrant paternalistic interventions, in order to fulfil duty of care. Moreover, treatment of FD is inherently paternalistic and therefore raises interesting questions about justifications and type of paternalistic interventions in psychiatry both for FD and in general. A brief account of key questions concerning psychiatry and paternalism is followed by some case histories of FD, the clinical dilemmas posed and the question of how this disorder might warrant paternalistic interventions. In order to answer this question, two things are considered: the legitimacy and character of FD as a mental disorder; possible frameworks for and types of paternalistic interventions. To conclude, it is argued that there are no compelling reasons for rejecting the use of paternalistic interventions for FD, but that further investigation of FD and type and frameworks for psychiatric paternalism, in relation to FD and other mental disorders, are urgently needed.

  10. Paternal occupational exposure to electromagnetic fields and neuroblastoma in offspring

    SciTech Connect

    Wilkins, J.R. 3d.; Hundley, V.D. )

    1990-06-01

    Investigators in Texas have reported an association between paternal employment in jobs linked with exposure to electromagnetic fields and risk of neuroblastoma in offspring. In an attempt to replicate this finding, the authors conducted a case-control study in Ohio. A total of 101 incident cases of neuroblastoma were identified through the Columbus (Ohio) Children's Hospital Tumor Registry. All cases were born sometime during the period 1942-1967. From a statewide roster of birth certificates, four controls were selected for each case, with individual matching on the case's year of birth, race, and sex, and the mother's county of residence at the time of the (index) child's birth. Multiple definitions were employed to infer the potential for paternal occupational exposure to electromagnetic fields from the industry/occupation statements on the birth certificates. Case-control comparisons revealed adjusted odds ratios ranging in magnitude from 0.5 to 1.9. For two of the exposure definitions employed--both of which are similar to one used by the Texas investigators--the corresponding odds ratios were modestly elevated (odds ratios = 1.6 and 1.9). Notably, the magnitude of these odds ratios is not inconsistent with the Texas findings, where the exposure definition referred to yielded an odds ratio of 2.1. Because the point estimates in this study are imprecise, and because the biologic plausibility of the association is uncertain, the results reported here must be interpreted cautiously. However, the apparent consistency between two independent studies suggests that future evaluation of the association is warranted.

  11. Low frequency paternal transmission of plastid genes in Brassicaceae.

    PubMed

    Schneider, Anja; Stelljes, Christian; Adams, Caroline; Kirchner, Stefan; Burkhard, Gabi; Jarzombski, Sabine; Broer, Inge; Horn, Patricia; Elsayed, Ashraf; Hagl, Peter; Leister, Dario; Koop, Hans-Ulrich

    2015-04-01

    Plastid-encoded genes are maternally inherited in most plant species. Transgenes located on the plastid genome are thus within a natural confinement system, preventing their distribution via pollen. However, a low-frequency leakage of plastids via pollen seems to be universal in plants. Here we report that a very low-level paternal inheritance in Arabidopsis thaliana occurs under field conditions. As pollen donor an Arabidopsis accession (Ler-Ely) was used, which carried a plastid-localized atrazine resistance due to a point mutation in the psbA gene. The frequency of pollen transmission into F1 plants, based on their ability to express the atrazine resistance was 1.9 × 10(-5). We extended our analysis to another cruciferous species, the world-wide cultivated crop Brassica napus. First, we isolated a fertile and stable plastid transformant (T36) in a commercial cultivar of B. napus (cv Drakkar). In T36 the aadA and the bar genes were integrated in the inverted repeat region of the B. napus plastid DNA following particle bombardment of hypocotyl segments. Southern blot analysis confirmed transgene integration and homoplasmy of plastid DNA. Line T36 expressed Basta resistance from the inserted bar gene and this trait was used to estimate the frequency of pollen transmission into F1 plants. A frequency of <2.6 × 10(-5) was determined in the greenhouse. Taken together, our data show a very low rate of paternal plastid transmission in Brassicacea. Moreover, the establishment of plastid transformation in B. napus facilitates a safe use of this important crop plant for plant biotechnology.

  12. Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.

    PubMed

    Meng, Linyan; Ward, Amanda J; Chun, Seung; Bennett, C Frank; Beaudet, Arthur L; Rigo, Frank

    2015-02-19

    Angelman syndrome is a single-gene disorder characterized by intellectual disability, developmental delay, behavioural uniqueness, speech impairment, seizures and ataxia. It is caused by maternal deficiency of the imprinted gene UBE3A, encoding an E3 ubiquitin ligase. All patients carry at least one copy of paternal UBE3A, which is intact but silenced by a nuclear-localized long non-coding RNA, UBE3A antisense transcript (UBE3A-ATS). Murine Ube3a-ATS reduction by either transcription termination or topoisomerase I inhibition has been shown to increase paternal Ube3a expression. Despite a clear understanding of the disease-causing event in Angelman syndrome and the potential to harness the intact paternal allele to correct the disease, no gene-specific treatment exists for patients. Here we developed a potential therapeutic intervention for Angelman syndrome by reducing Ube3a-ATS with antisense oligonucleotides (ASOs). ASO treatment achieved specific reduction of Ube3a-ATS and sustained unsilencing of paternal Ube3a in neurons in vitro and in vivo. Partial restoration of UBE3A protein in an Angelman syndrome mouse model ameliorated some cognitive deficits associated with the disease. Although additional studies of phenotypic correction are needed, we have developed a sequence-specific and clinically feasible method to activate expression of the paternal Ube3a allele.

  13. Paternal ADHD Symptoms and Child Conduct Problems: Is Father Involvement Always Beneficial?

    PubMed Central

    Romirowsky, Abigail Mintz; Chronis-Tuscano, Andrea

    2013-01-01

    Background Maternal psychopathology robustly predicts poor developmental and treatment outcomes for children with attention-deficit/hyperactivity disorder (ADHD). Despite the high heritability of ADHD, few studies have examined associations between paternal ADHD symptoms and child adjustment, and none have also considered degree of paternal involvement in childrearing. Identification of modifiable risk factors for child conduct problems is particularly important in this population given the serious adverse outcomes resulting from this comorbidity. Methods This cross-sectional study examined the extent to which paternal involvement in childrearing moderated the association between paternal ADHD symptoms and child conduct problems among 37 children with ADHD and their biological fathers. Results Neither paternal ADHD symptoms nor involvement was independently associated with child conduct problems. However, the interaction between paternal ADHD symptoms and involvement was significant, such that paternal ADHD symptoms were positively associated with child conduct problems only when fathers were highly involved in childrearing. Conclusions The presence of adult ADHD symptoms may determine whether father involvement in childrearing has a positive or detrimental influence on comorbid child conduct problems. PMID:25250402

  14. Evidence for Paternal Leakage in Hybrid Periodical Cicadas (Hemiptera: Magicicada spp.)

    PubMed Central

    Fontaine, Kathryn M.; Cooley, John R.; Simon, Chris

    2007-01-01

    Mitochondrial inheritance is generally assumed to be maternal. However, there is increasing evidence of exceptions to this rule, especially in hybrid crosses. In these cases, mitochondria are also inherited paternally, so “paternal leakage” of mitochondria occurs. It is important to understand these exceptions better, since they potentially complicate or invalidate studies that make use of mitochondrial markers. We surveyed F1 offspring of experimental hybrid crosses of the 17-year periodical cicadas Magicicada septendecim, M. septendecula, and M. cassini for the presence of paternal mitochondrial markers at various times during development (1-day eggs; 3-, 6-, 9-week eggs; 16-month old 1st and 2nd instar nymphs). We found evidence of paternal leakage in both reciprocal hybrid crosses in all of these samples. The relative difficulty of detecting paternal mtDNA in the youngest eggs and ease of detecting leakage in older eggs and in nymphs suggests that paternal mitochondria proliferate as the eggs develop. Our data support recent theoretical predictions that paternal leakage may be more common than previously estimated. PMID:17849021

  15. Paternal Incarceration and Adolescent Well-Being: Life Course Contingencies and Other Moderators.

    PubMed

    Swisher, Raymond R; Shaw-Smith, Unique R

    Parental incarceration has been found to be associated with a wide range of negative outcomes in both childhood and adolescence. This Article uses data from the National Longitudinal Study of Adolescent Health (Add Health) to focus on the conditions under which associations of paternal incarceration with adolescent delinquency and depression are strongest. Paternal incarceration is most consistently and positively associated with adolescent delinquency. Associations of paternal incarceration with adolescent depression are weaker and more contingent on gender and other moderating factors. One important moderator is the respondent's retrospective reports that he or she was physically or sexually abused by a parent or other adult caregiver during childhood. For example, in the absence of sexual abuse, paternal incarceration is associated with higher depression among girls. When coupled with reports of sexual abuse, in contrast, paternal incarceration is not associated with girls' depression, suggesting a potential protective effect. The child having ever coresided with his or her father is also found to moderate associations, with paternal incarceration most strongly associated with delinquency and depression among girls who had ever coresided with their fathers. Examination of the duration and timing of paternal incarceration also pointed to gender differences.

  16. Paternal Incarceration and Adolescent Well-Being: Life Course Contingencies and Other Moderators

    PubMed Central

    Swisher, Raymond R.; Shaw-Smith, Unique R.

    2016-01-01

    Parental incarceration has been found to be associated with a wide range of negative outcomes in both childhood and adolescence. This Article uses data from the National Longitudinal Study of Adolescent Health (Add Health) to focus on the conditions under which associations of paternal incarceration with adolescent delinquency and depression are strongest. Paternal incarceration is most consistently and positively associated with adolescent delinquency. Associations of paternal incarceration with adolescent depression are weaker and more contingent on gender and other moderating factors. One important moderator is the respondent's retrospective reports that he or she was physically or sexually abused by a parent or other adult caregiver during childhood. For example, in the absence of sexual abuse, paternal incarceration is associated with higher depression among girls. When coupled with reports of sexual abuse, in contrast, paternal incarceration is not associated with girls' depression, suggesting a potential protective effect. The child having ever coresided with his or her father is also found to moderate associations, with paternal incarceration most strongly associated with delinquency and depression among girls who had ever coresided with their fathers. Examination of the duration and timing of paternal incarceration also pointed to gender differences. PMID:27239076

  17. Paternal condition drives progeny sex-ratio bias in a lizard that lacks parental care.

    PubMed

    Cox, Robert M; Duryea, M Catherine; Najarro, Michael; Calsbeek, Ryan

    2011-01-01

    Sex-allocation theory predicts that females in good condition should preferentially produce offspring of the sex that benefits the most from an increase in maternal investment. However, it is generally assumed that the condition of the sire has little effect on progeny sex ratio, particularly in species that lack parental care. We used a controlled breeding experiment and molecular paternity analyses to examine the effects of both maternal and paternal condition on progeny sex ratio and progeny fitness in the brown anole (Anolis sagrei), a polygynous lizard that lacks parental care. Contrary to the predictions of sex-allocation theory, we found no relationship between maternal condition and progeny sex ratio. By contrast, progeny sex ratio shifted dramatically from female-biased to male-biased as paternal condition increased. This pattern was driven entirely by an increase in the production of sons as paternal condition improved. Despite strong natural selection favoring large size and high condition in both sons and daughters, we found no evidence that progeny survival was related to paternal condition. Our results emphasize the importance of considering the paternal phenotype in studies of sex allocation and highlight the need for further research into the pathways that link paternal condition to progeny fitness. © 2010 The Author(s). Evolution© 2010 The Society for the Study of Evolution.

  18. Paternal lifestyle as a potential source of germline mutations transmitted to offspring.

    PubMed

    Linschooten, Joost O; Verhofstad, Nicole; Gutzkow, Kristine; Olsen, Ann-Karin; Yauk, Carole; Oligschläger, Yvonne; Brunborg, Gunnar; van Schooten, Frederik J; Godschalk, Roger W L

    2013-07-01

    Paternal exposure to high levels of radioactivity causes heritable germline minisatellite mutations. However, the effect of more general paternal exposures, such as cigarette smoking, on germline mutations remains unexplored. We analyzed two of the most commonly used minisatellite loci (CEB1 and B6.7) to identify germline mutations in blood samples of complete mother-father-child triads from the Norwegian Mother and Child Cohort Study (MoBa). The presence of mutations was subsequently related to general lifestyle factors, including paternal smoking before the partner became pregnant. Paternally derived mutations at the B6.7 locus (mutation frequency 0.07) were not affected by lifestyle. In contrast, high gross yearly income as a general measure of a healthy lifestyle coincided with low-mutation frequencies at the CEB1 locus (P=0.047). Income was inversely related to smoking behavior, and paternally derived CEB1 mutations were dose dependently increased when the father smoked in the 6 mo before pregnancy, 0.21 vs. 0.05 in smoking and nonsmoking fathers, respectively (P=0.061). These results suggest that paternal lifestyle can affect the chance of heritable mutations in unstable repetitive DNA sequences. To our knowledge, this is the first study reporting an effect of lifestyle on germline minisatellite mutation frequencies in a human population with moderate paternal exposures.

  19. The role of paternal drinking problems in the psychological characteristics of high school students.

    PubMed

    Choi, Dong Hyun; Kim, Jong Sung; Jung, Jin Gyu; Ryou, Young Il; Kim, Young Seok; Uh, Won Chul

    2013-11-01

    It has been reported that children with parental drinking problems are at increased risk of drinking problems or psychiatric diseases in adulthood. The present study was conducted to examine the psychiatric characteristics of high school students according to paternal drinking problems. The subjects were 950 high school students (390 male and 560 female). The paternal drinking problems were assessed by using the Father-Short Michigan Alcoholism Screening Test. The Alcohol Use Disorders Identification Test, Beck's depression inventory, and Beck's anxiety inventory were used to evaluate the drinking behavior, depression, and anxiety of high school students. While male students with paternal drinking problems showed significantly increased risk of anxiety (odds ratio [OR], 2.21; 95% confidence interval [CI], 1.05 to 4.63), female students with paternal drinking problems showed significantly increased risk of depression (OR, 1.84; 95% CI, 1.24 to 2.74) according to the results of logistic regression analysis with adjustments for participants' age, whether they live together with parents, their religion, club activities, and smoking habits on the basis of students without paternal drinking problems. The above results suggest that paternal drinking problems lead to unstable mentalities in both male and female students, and that a family physician should address the mental state of teenagers with paternal drinking problems during clinical encounters.

  20. Paternal behavior in the Mongolian gerbil (Meriones unguiculatus): Estrogenic and androgenic regulation.

    PubMed

    Martínez, Ana; Ramos, Guillermo; Martínez-Torres, Martín; Nicolás, Leticia; Carmona, Agustín; Cárdenas, Mario; Luis, Juana

    2015-05-01

    Here, we analyzed the effects of testosterone (T) and its metabolites, estradiol (E2) and dihydrotestosterone (DHT), on the onset of paternal behavior in virgin male Mongolian gerbils (Meriones unguiculatus). We hypothesized that T and E2, but not DHT, would facilitate the onset of paternal behavior. Seventy males displaying aggression toward pups were selected through a paternal behavior screening test. Forty males were bilaterally castrated. Of them, 10 were implanted with T, 10 with E2, and 10 with DHT, and 10 received no treatment. Another 30 males underwent a sham procedure. In these gerbils, T, E2 and DHT were measured to obtain the basal levels of these hormones. After treatment, the paternal behavior test was conducted again. Blood samples were obtained immediately after the administration of the test for the quantification of T, E2 and DHT by radioimmunoassay. Surprisingly, 100% of the males that received T, E2 and DHT implants stopped being aggressive and became paternal. Castrated and sham-operated males displayed no changes in their aggressive behaviors. This is the first report that T and its metabolites are involved in neuroendocrine mechanisms that inhibit aggression toward pups and facilitate paternal behavior in virgin male Mongolian gerbils. In addition, this is the first report of regulation of paternal behavior in a rodent by estrogenic and androgenic pathways.

  1. Paternal behavior increases testosterone levels in offspring of the California mouse.

    PubMed

    Becker, Elizabeth A; Moore, Brett M; Auger, Catherine; Marler, Catherine A

    2010-08-01

    Paternal care during early development influences pup survivorship in the monogamous and biparental California mouse, Peromyscus californicus. Moreover, paternal pup retrievals impact development of adult offspring aggression and the neuropeptide vasopressin, yet little is known about the underlying mechanisms of these developmental changes. Because testosterone can increase arginine vasopressin and aggression, we hypothesized that paternal pup retrievals increase testosterone levels in prepubertal male P. californicus pups. Male pups were assigned to one of three groups: hormonal baseline, nonretrieval control, or retrieval. On postnatal days 18-21, all pups and the mother were removed from the cage, and the focal male pup was placed either outside of the nest to elicit paternal retrievals (retrieval group) or in the nest to discourage paternal retrievals (nonretrieval group). Testosterone was elevated at 45-min, but not 90-min, post-manipulation in retrieved compared to nonretrieved pups. Moreover, there was a significant positive correlation between pup retrievals and testosterone in the 45-min group. This rapid testosterone rise in response to paternal retrievals may facilitate an increase in aggression and vasopressin in adult offspring. Therefore, this period of development previously viewed as hormonally quiescent may be more active in response to paternal behavior than previously thought.

  2. Paternal Caregivers' Parenting Practices and Psychological Functioning among African American Youth Living in Urban Public Housing.

    PubMed

    Doyle, Otima; Clark Goings, Trenette; Cryer-Coupet, Qiana R; Lombe, Margaret; Stephens, Jennifer; Nebbitt, Von E

    2016-05-20

    Structural factors associated with public housing contribute to living environments that expose families to adverse life events that may in turn directly impact parenting and youth outcomes. However, despite the growth in research on fathers, research on families in public housing has practically excluded fathers and the role fathers play in the well-being of their adolescents. Using a sample of 660 African American adolescents recruited from public housing, we examined the relationship between paternal caregivers' (i.e., fathers' and father figures') parenting practices and adolescents' depressive symptoms, attitudes toward deviance, and self-efficacy. Using a latent profile analysis (LPA), we confirmed a four-class model of paternal parenting practices ranging from high to low levels of monitoring and encouragement. Results from a one-way ANOVA indicated that paternal caregivers with high (compared to moderate) levels of encouragement and monitoring were associated with youth who reported less depressive symptoms, higher levels of self-efficacy, and less favorable attitudes toward deviance. Discriminant analysis results indicated that approximately half of the sample were correctly classified into two paternal caregiver classes. The findings provide evidence that some of these caregivers engage in parenting practices that support youths' psychological functioning. More research is needed to determine what accounts for the variability in levels of paternal encouragement and supervision, including environmental influences, particularly for paternal caregivers exhibiting moderate-to-low levels of paternal encouragement and monitoring.

  3. Female rhesus macaques discriminate unfamiliar paternal sisters in playback experiments: support for acoustic phenotype matching

    PubMed Central

    Pfefferle, Dana; Ruiz-Lambides, Angelina V.; Widdig, Anja

    2014-01-01

    Widespread evidence exists that when relatives live together, kinship plays a central role in shaping the evolution of social behaviour. Previous studies showed that female rhesus macaques (Macaca mulatta) recognize familiar maternal kin using vocal cues. Recognizing paternal kin might, however, be more difficult as rhesus females mate promiscuously during the possible conception period, most probably concealing paternity. Behavioural observations indicate that semi free-ranging female rhesus macaques prefer to associate with their paternal half-sisters in comparison to unrelated females within the same group, particularly when born within the same age cohort. However, the cues and mechanism/s used in paternal kin discrimination remain under debate. Here, we investigated whether female rhesus macaques use the acoustic modality to discriminate between paternal half-sisters and non-kin, and tested familiarity and phenotype matching as the underlying mechanisms. We found that test females responded more often to calls of paternal half-sisters compared with calls of unrelated females, and that this discrimination ability was independent of the level of familiarity between callers and test females, which provides, to our knowledge, the first evidence for acoustic phenotype matching. Our study strengthens the evidence that female rhesus macaques can recognize their paternal kin, and that vocalizations are used as a cue. PMID:24225452

  4. Paternal care and the evolution of exaggerated sexual swellings in primates

    PubMed Central

    Fitzpatrick, Courtney L.

    2012-01-01

    The exaggerated sexual swellings exhibited by females of some primate species have been of interest to evolutionary biologists since the time of Darwin. We summarize existing hypotheses for their function and evolution and categorize these hypotheses within the context of 3 types of variation in sexual swelling size: 1) variation within a single sexual cycle, 2) variation between the sexual cycles of a single female, and 3) differences between females. We then propose the Paternal Care Hypothesis for the function of sexual swellings, which posits that exaggerated sexual swellings function to elicit the right quantity and quality of male care for a female's infant. As others have noted, swellings may allow females to engender paternity confusion, or they may allow females to confer relative paternal certainty on one male. Key to our hypothesis is that both of these scenarios create an incentive for one or more males to provide care. This hypothesis builds on previous hypotheses but differs from them by highlighting the elicitation of paternal care as a key function of swellings. Our hypothesis predicts that true paternal care (in which males accurately differentiate and provide assistance to their own offspring) will be most common in species in which exaggerated swellings accurately signal the probability of conception, and males can monopolize females during the window of highest conception probability. Our hypothesis also predicts that females will experience selection to behave in ways that either augment paternity confusion or enhance paternal certainty depending on their social and demographic contexts. PMID:24771988

  5. Evidence for paternal leakage in hybrid periodical cicadas (Hemiptera: Magicicada spp.).

    PubMed

    Fontaine, Kathryn M; Cooley, John R; Simon, Chris

    2007-09-12

    Mitochondrial inheritance is generally assumed to be maternal. However, there is increasing evidence of exceptions to this rule, especially in hybrid crosses. In these cases, mitochondria are also inherited paternally, so "paternal leakage" of mitochondria occurs. It is important to understand these exceptions better, since they potentially complicate or invalidate studies that make use of mitochondrial markers. We surveyed F1 offspring of experimental hybrid crosses of the 17-year periodical cicadas Magicicada septendecim, M. septendecula, and M. cassini for the presence of paternal mitochondrial markers at various times during development (1-day eggs; 3-, 6-, 9-week eggs; 16-month old 1st and 2nd instar nymphs). We found evidence of paternal leakage in both reciprocal hybrid crosses in all of these samples. The relative difficulty of detecting paternal mtDNA in the youngest eggs and ease of detecting leakage in older eggs and in nymphs suggests that paternal mitochondria proliferate as the eggs develop. Our data support recent theoretical predictions that paternal leakage may be more common than previously estimated.

  6. Paternal obesity, interventions, and mechanistic pathways to impaired health in offspring.

    PubMed

    McPherson, Nicole O; Fullston, Tod; Aitken, R John; Lane, Michelle

    2014-01-01

    The global rates of male overweight/obesity are rising, approaching 70% of the total adult population in Western nations. Overweight/obesity increases the risk of chronic diseases; however, there is increasing awareness that male obesity negatively impacts fertility, subsequent pregnancy, and the offspring health burden. Developmental programming is well defined in mothers; however, it is becoming increasingly evident that developmental programming can be paternally initiated and mediated through paternal obesity. Both human and rodent models have established that paternal obesity impairs sex hormones, basic sperm function, and molecular composition. This results in perturbed embryo development and health and an increased subsequent offspring disease burden in both sexes. The reversibility of obesity-induced parental programming has only recently received attention. Promising results in animal models utilizing diet and exercise interventions have shown improvements in sperm function and molecular composition, resulting in restorations of both embryo and fetal health and subsequent male offspring fertility. The direct mode for paternal inheritance is likely mediated via spermatozoa. We propose two main theories for the origin of male obesity-induced paternal programming: (1) accumulation of sperm DNA damage resulting in de novo mutations in the embryo and (2) changes in sperm epigenetic marks (microRNA, methylation, or acetylation) altering the access, transcription, and translation of paternally derived genes during early embryogenesis. Paternal overweight/obesity induces paternal programming of offspring phenotypes likely mediated through genetic and epigenetic changes in spermatozoa. These programmed changes to offspring health appear to be partially restored via diet/exercise interventions in obese fathers preconception, which have been shown to improve aspects of sperm DNA integrity. However, the majority of data surrounding paternal obesity and offspring

  7. The Effect of Paternal Age on Relapse in First-Episode Schizophrenia

    PubMed Central

    Hui, Christy L M; Chiu, Cindy P Y; Li, Yuet-Keung; Law, Chi-Wing; Chang, Wing-Chung; Chan, Sherry K W; Lee, Edwin H M; Sham, Pak; Chen, Eric Y H

    2015-01-01

    Objective: Multiple etiological and prognostic factors have been implied in schizophrenia and its outcome. Advanced paternal age has been reported as a risk factor in schizophrenia. Whether this may affect schizophrenia outcome was not previously studied. We hypothesized that advanced paternal age may have a negative effect on the outcome of relapse in schizophrenia. Method: We interviewed 191 patients with first-episode schizophrenia and their relatives for parental ages, sociodemographic factors at birth, birth rank, family history of psychotic disorders, and obstetric complications. The outcome measure was the presence of relapse at the end of the first year of treatment. Results: In the 1-year follow-up period, 42 (22%) patients experienced 1 or more relapses. The mean paternal age was 34.62 years (SD 7.69). Patients who relapsed had significantly higher paternal age, poorer medication adherence, were female, and were hospitalized at onset, compared with patients who did not relapse. A multivariate regression analysis showed that advanced paternal age (OR 1.05, 95% CI 1.01 to 1.10), medication nonadherence (OR 2.37, 95% CI 1.12 to 4.99), and female sex (OR 2.44, 95% CI 1.14 to 5.24) independently contributed to a higher risk of relapse. Analysis between different paternal age groups found a significantly higher relapse rate with paternal age over 40. Conclusions: Advanced paternal age is found to be modestly but significantly related to more relapses, and such an effect is the strongest at a cut-off of paternal age of 40 years or older. The effect is less likely to be mediated through less effective parental supervision or nonadherence to medication. Other possible biological mechanisms need further explorations. PMID:26454556

  8. High Correlated Paternity Leads to Negative Effects on Progeny Performance in Two Mediterranean Shrub Species

    PubMed Central

    Nora, Sofia; Aparicio, Abelardo; Albaladejo, Rafael G.

    2016-01-01

    Anthropogenic habitat deterioration can promote changes in plant mating systems that subsequently may affect progeny performance, thereby conditioning plant recruitment for the next generation. However, very few studies yet tested mating system parameters other than outcrossing rates; and the direct effects of the genetic diversity of the pollen received by maternal plants (i.e. correlated paternity) has often been overlooked. In this study, we investigated the relation between correlated paternity and progeny performance in two common Mediterranean shrubs, Myrtus communis and Pistacia lentiscus. To do so, we collected open-pollinated progeny from selected maternal plants, calculated mating system parameters using microsatellite genotyping and conducted sowing experiments under greenhouse and field conditions. Our results showed that some progeny fitness components were negatively affected by the high correlated paternity of maternal plants. In Myrtus communis, high correlated paternity had a negative effect on the proportion and timing of seedling emergence in the natural field conditions and in the greenhouse sowing experiment, respectively. In Pistacia lentiscus, seedling emergence time under field conditions was also negatively influenced by high correlated paternity and a progeny survival analysis in the field experiment showed greater mortality of seedlings from maternal plants with high correlated paternity. Overall, we found effects of correlated paternity on the progeny performance of Myrtus communis, a self-compatible species. Further, we also detected effects of correlated paternity on the progeny emergence time and survival in Pistacia lentiscus, an obligate outcrossed species. This study represents one of the few existing empirical examples which highlight the influence that correlated paternity may exert on progeny performance in multiple stages during early seedling growth. PMID:27835658

  9. Origin of extra chromosome in Patau syndrome.

    PubMed

    Ishikiriyama, S; Niikawa, N

    1984-01-01

    Five live-born infants with Patau syndrome were studied for the nondisjunctional origin of the extra chromosome. Transmission modes of chromosomes 13 from parents to a child were determined using both QFQ- and RFA-heteromorphisms as markers, and the origin was ascertained in all of the patients. The extra chromosome had originated in nondisjunction at the maternal first meiotic division in two patients, at the maternal second meiosis in other two, and at the paternal first meiosis in the remaining one. Summarizing the results of the present study, together with those of the previous studies on a liveborn and abortuses with trisomy 13, nondisjunction at the maternal and the paternal meiosis occurred in this trisomy in the ratio of 14:3. This ratio is not statistically different from that inferred from the previous studies for Down syndrome. These findings suggest that there may be a fundamental mechanism common to the occurrence of nondisjunction in the acrocentric trisomies.

  10. Angelman Syndrome.

    PubMed

    Margolis, Seth S; Sell, Gabrielle L; Zbinden, Mark A; Bird, Lynne M

    2015-07-01

    In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which encodes an E3 ubiquitin ligase. Four mechanisms that render the maternally inherited UBE3A nonfunctional are recognized, the most common of which is deletion of the maternal chromosomal region 15q11-q13. Remarkably, duplication of the same chromosomal region is one of the few characterized persistent genetic abnormalities associated with autistic spectrum disorder, occurring in >1-2% of all cases of autism spectrum disorder. While the overall morphology of the brain and connectivity of neural projections appear largely normal in AS mouse models, major functional defects are detected at the level of context-dependent learning, as well as impaired maturation of hippocampal and neocortical circuits. While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A leads to AS pathophysiology in humans remain poorly understood. However, recent efforts have shown promise in restoring functions disrupted in AS mice, renewing hope that an effective treatment strategy can be found.

  11. Wild female baboons bias their social behaviour towards paternal half-sisters.

    PubMed Central

    Smith, Kerri; Alberts, Susan C; Altmann, Jeanne

    2003-01-01

    Adult female cercopithecines have long been known to bias their social behaviour towards close maternal kin. However, much less is understood about the behaviour of paternal kin, especially in wild populations. Here, we show that wild adult female baboons bias their affiliative behaviour towards their adult paternal half-sisters in the same manner and to the same extent that they bias their behaviour towards adult maternal half-sisters. Females appear to rely heavily on social familiarity as a means of biasing their behaviour towards paternal half-sisters, but may use phenotype matching as well. PMID:12641905

  12. High-protein paternal diet confers an advantage to sons in sperm competition

    PubMed Central

    2017-01-01

    Parental environment can widely influence offspring phenotype, but paternal effects in the absence of parental care remain poorly understood. We asked if protein content in the larval diet of fathers affected paternity success and gene expression in their sons. We found that males reared on high-protein diet had sons that fared better during sperm competition, suggesting that postcopulatory sexual selection is subject to transgenerational paternal effects. Moreover, immune response genes were downregulated in sons of low-protein fathers, while genes involved in metabolic and reproductive processes were upregulated. PMID:28202685

  13. Further evidence for paternal inheritance of mitochondrial DNA in the sheep (Ovis aries).

    PubMed

    Zhao, X; Li, N; Guo, W; Hu, X; Liu, Z; Gong, G; Wang, A; Feng, J; Wu, C

    2004-10-01

    The mitochondrial DNA of 172 sheep from 48 families were typed by using PCR-RFLP, direct amplification of the repeated sequence domain and sequencing analysis. The mitochondrial DNA from three lambs in two half-sib families were found to show paternal inheritance. Our findings provide direct evidence of paternal inheritance of mitochondria DNA in sheep. A total of 12 highly polymorphic microsatellite markers, which mapped on different chromosomes, were employed to type the sheep population to confirm family relationships. Possible mechanisms of paternal inheritance are discussed.

  14. Apert’s Syndrome: Report of a New Case and its Management

    PubMed Central

    Dixit, Shweta; Singh, Asha; GS, Mamatha; S Desai, Rajiv; Jaju, Prashant

    2008-01-01

    In this article, an interesting case of Apert syndrome in a 14-year-old boy with characteristic craniosynostosis, acrocephaly, midface hypoplasia, pharyngeal attenuation, ocular manifestations, and syndactyly of the hands and feet is presented. The case is discussed in the light of relevant literature. A precise clinical differentiation must be made since considerable overlap of the features of various other syndromes could give rise to difficulties in diagnosing this condition. Besides detection and timely recognition of the syndrome to allow adequate dental care, screening at periodic intervals is merited to improve the overall quality of life of these patients. Clinical relevance This paper highlights the importance of the dentist as well as the specialist in the recognition and oral care of children with this syndrome.Children with teeth of unusual anatomy present a challenge for conventional dentistry.It is important for a pedodontist to evaluate and intervene the malrelationship of the jaws to reduce the complexity of further orthodontic treatment. Objectives statement: The reader should understand the clinical implications of recognition of this syndrome and provision of early treatment, with a purpose to reducing the duration and complexity of further treatment. PMID:25206089

  15. A paternal environmental legacy: Evidence for epigenetic inheritance through the male germ line

    PubMed Central

    Soubry, Adelheid; Hoyo, Cathrine; Jirtle, Randy L; Murphy, Susan K

    2014-01-01

    Literature on maternal exposures and the risk of epigenetic changes or diseases in the offspring is growing. Paternal contributions are often not considered. However, some animal and epidemiologic studies on various contaminants, nutrition, and lifestyle-related conditions suggest a paternal influence on the offspring's future health. The phenotypic outcomes may have been attributed to DNA damage or mutations, but increasing evidence shows that the inheritance of environmentally induced functional changes of the genome, and related disorders, are (also) driven by epigenetic components. In this essay we suggest the existence of epigenetic windows of susceptibility to environmental insults during sperm development. Changes in DNA methylation, histone modification, and non-coding RNAs are viable mechanistic candidates for a non-genetic transfer of paternal environmental information, from maturing germ cell to zygote. Inclusion of paternal factors in future research will ultimately improve the understanding of transgenerational epigenetic plasticity and health-related effects in future generations. PMID:24431278

  16. The association between perceived maternal and paternal psychopathology and depression and anxiety symptoms in adolescent girls.

    PubMed

    Rasing, Sanne P A; Creemers, Daan H M; Janssens, Jan M A M; Scholte, Ron H J

    2015-01-01

    Exposure to parental depression and anxiety is known to heighten the risk of internalizing symptoms and disorders in children and adolescents. Ample research has focused on the influence of maternal depression and anxiety, but the contribution of psychopathology in fathers remains unclear. We studied the relationships of perceived maternal and paternal psychopathology with adolescents' depression and anxiety symptoms in a general population sample of 862 adolescent girls (age M = 12.39, SD = 0.79). Assessments included adolescents' self-reports of their own depression and anxiety as well as their reports of maternal and paternal psychopathology. We found that perceived maternal and paternal psychopathology were both related to depression and anxiety symptoms in adolescent girls. A combination of higher maternal and paternal psychopathology was related to even higher levels of depression and anxiety in adolescent girls. Our findings showed that adolescents' perceptions of their parents' psychopathology are significantly related to their own emotional problems.

  17. Beyond Boys' Bad Behavior: Paternal Incarceration and Cognitive Development in Middle Childhood.

    PubMed

    Haskins, Anna R

    2016-12-07

    A growing number of American school-aged children have incarcerated or formally incarcerated parents necessitating a more comprehensive understanding of the intergenerational effects of mass imprisonment. Using the Fragile Families Study, I assess whether having an incarcerated father impacts children's cognitive skill development into middle childhood. While previous studies have primarily found effects for boys' behavior problems, matching models and sensitivity analyses demonstrate that experiencing paternal incarceration by age 9 is associated with lower cognitive skills for both boys and girls and these negative effects hold net of a pre-paternal incarceration measure of child cognitive ability. Moreover, I estimate that paternal incarceration explains between 2 and 15 percent of the Black-White achievement gap at age 9. These findings represent new outcomes of importance and suggest that paternal incarceration may play an even larger role in the production of intergenerational inequalities for American children than previously documented.

  18. Paternal Hostility and Maternal Hostility in European American and African American Families.

    PubMed

    Wu, Ed Y; Reeb, Ben T; Martin, Monica J; Gibbons, Frederick X; Simons, Ronald L; Conger, Rand D

    2014-06-01

    The authors examined the hypothesized influence of maternal and paternal hostility on youth delinquency over time. The investigation addressed significant gaps in earlier research on parental hostility, including the neglect of father effects, especially in African American families. Using prospective, longitudinal data from community samples of European American (n = 422) and African American (n = 272) 2-parent families, the authors examined the independent effects of paternal and maternal hostility on youth delinquency. The results indicated that paternal hostility significantly predicted relative increases in youth delinquent behaviors above and beyond the effects of maternal hostility; conversely, maternal hostility did not predict youth delinquency after controlling for paternal hostility. Multiple-group analyses yielded similar results for both ethnic groups and for boys and girls. These results underscore the importance of including both parents in research on diverse families. Neglecting fathers provides an incomplete account of parenting in relation to youth development.

  19. The association between perceived maternal and paternal psychopathology and depression and anxiety symptoms in adolescent girls

    PubMed Central

    Rasing, Sanne P. A.; Creemers, Daan H. M.; Janssens, Jan M. A. M.; Scholte, Ron H. J.

    2015-01-01

    Exposure to parental depression and anxiety is known to heighten the risk of internalizing symptoms and disorders in children and adolescents. Ample research has focused on the influence of maternal depression and anxiety, but the contribution of psychopathology in fathers remains unclear. We studied the relationships of perceived maternal and paternal psychopathology with adolescents’ depression and anxiety symptoms in a general population sample of 862 adolescent girls (age M = 12.39, SD = 0.79). Assessments included adolescents’ self-reports of their own depression and anxiety as well as their reports of maternal and paternal psychopathology. We found that perceived maternal and paternal psychopathology were both related to depression and anxiety symptoms in adolescent girls. A combination of higher maternal and paternal psychopathology was related to even higher levels of depression and anxiety in adolescent girls. Our findings showed that adolescents’ perceptions of their parents’ psychopathology are significantly related to their own emotional problems. PMID:26257664

  20. Biparental Care in Insects: Paternal Care, Life History, and the Function of the Nest

    PubMed Central

    Suzuki, Seizi

    2013-01-01

    The evolution of parental care is a complex process, and many evolutionary pathways have been hypothesized. Maternal care is common, but paternal care is not. High confidence of paternity should favor the evolution of paternal attendance in caring for young; biparental care is rare because paternity assurance is typically low compared to maternity. Biparental care in insects has evolved several times and has high diversity. To evaluate the conditions for the evolution of biparental care, a comparison across taxa is suitable. In this review, common traits of biparental species are discussed in order to evaluate previous models of biparental care and the life history of insects. It will be shown that nesting is a common feature in biparental insects. Nest structure limits extra-pair copulations, contributing to the evolution of biparental care. PMID:24766389