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Sample records for parietal foramina craniofacial

  1. Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.

    PubMed Central

    Bartsch, O.; Wuyts, W.; Van Hul, W.; Hecht, J. T.; Meinecke, P.; Hogue, D.; Werner, W.; Zabel, B.; Hinkel, G. K.; Powell, C. M.; Shaffer, L. G.; Willems, P. J.

    1996-01-01

    A contiguous gene syndrome due to deletions of the proximal short arm of chromosome 11 is described in eight patients belonging to four families. The main clinical features are multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation. The patients have cytogenetic and/or molecular deletions of chromosome 11p11-p13. These deletions are located between the centromere and D11S914 in a region of approximately 20cM. The present study confirms the presence of a multiple exostoses gene on chromosome 11p. Furthermore, it suggests that the gene for isolated foramina parietalie permagna and genes associated with craniofacial dysostosis and mental retardation reside in the same chromosomal region. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 PMID:8644736

  2. Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11

    SciTech Connect

    Bartsch, O.; Werner, W.; Hinkel, G.K.; Van Hul, W.; Willems, P.J.

    1996-04-01

    A contiguous gene syndrome due to deletions of the proximal short arm of chromosome 11 is described in eight patients belonging to four families. The main clinical features are multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation. The patients have cytogenetic and/or molecular deletions of chromosome 11p11-p13. These deletions are located between the centromere and D11S914 in a region of {approximately}20 cM. The present study confirms the presence of a multiple exostoses gene on chromosome 11p. Furthermore, it suggests that the gene for isolated foramina parietalia permagna and genes associated with craniofacial dysostosis and mental retardation reside in the same chromosomal region. 31 refs., 5 figs., 1 tab.

  3. Genetics Home Reference: enlarged parietal foramina

    MedlinePlus

    ... parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) ... that form the top and sides of the skull. This condition is due to incomplete bone formation ( ...

  4. Enlarged parietal foramina: a rare forensic autopsy finding.

    PubMed

    Durão, Carlos; Carpinteiro, Dina; Pedrosa, Frederico; Machado, Marcos P; Cunha, Eugénia

    2016-05-01

    Enlarged parietal foramina (EPF) are a quite rare developmental defect of the parietal bone which has to be distinguished from the normal small parietal foramina. We report a forensic case of an individual found in an advanced state of putrefaction in his own house with an undetermined cause of death. No evidence of trauma was observed, and the toxicological exam was negative. The victim was a 40-year-old man with a history of epilepsy. The large biparietal foramina, a rare anatomical variation and unusual autopsy finding, were observed at autopsy. The recognition of anatomical variations is important to avoid false interpretations and conclusions and has a significant potential as an identity factor, thus contributing to positive identification. PMID:26233611

  5. [Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation].

    PubMed

    Morita, Motoaki; Nanba, Eiji; Adachi, Kaori; Ohno, Kousaku

    2016-05-01

    Enlarged parietal foramina (EPF) are rare congenital skull defects. These round or oval defects are situated on each parietal bone approximately 1 cm from the midline. Most patients with EPF have a positive family history. The condition is inherited as an autosomal dominant trait with relatively high, but not full, penetrance. Mutation in either MSX2 or ALX4 genes is associated with enlarged parietal foramina. Case 1 is a boy who was noticed to have a large anterior fontanelle, large posterior fontanelle, and widely opened sagittal suture at 2 months. During development, the anterior fontanelle and sagittal suture closed at 3 years and the posterior fontanelle subsequently divided into two foramina with ossification of the midline bridge by 4 years. The foramina were about 2.5 x 2.5 cm in diameter at 8 years. Case 2 is the 34-year-old mother of Case 1. She showed similar bone defects in her cranium, again about 2.5 x 2.5 cm in diameter. Neither patient showed any neurological symptoms. Genetic analysis revealed a mutation in the ALX4 gene in both patients, and magnetic resonance imaging showed a persistent falcine sinus and a hypoplastic straight sinus. Further evaluation revealed that the mother of Case 2 also had a mutation in the ALX4 gene, but no enlarged parietal foramina. Although high penetrance of this condition has been reported, this family suggests incomplete penetrance of this disorder. PMID:27349084

  6. Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation.

    PubMed

    Valente, Marcelo; Valente, Kette D; Sugayama, Sofia S M; Kim, Chong Ae

    2004-01-01

    Vascular and cortical anomalies have been found in a family with parietal foramina type 2 (PFM2), which is determined by the ALX4 gene. It is believed that ALX4 has a bone-restricted expression. We report a case of PFM with age-related size variation in a 4-year-old boy, as well as in his mother, aunt and grandfather. MR imaging of the child demonstrates prominent malformations of cortical (polymicrogyric cortex with an unusual infolding pattern) and vascular development (persistence median prosencephalic vein), associated with high tentorial incisure periatrial white matter changes. PMID:15569759

  7. Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS

    PubMed Central

    Mendoza-Londono, Roberto ; Lammer, Edward ; Watson, Rosemarie ; Harper, John ; Hatamochi, Atsushi ; Hatamochi-Hayashi, Saori ; Napierala, Dobrawa ; Hermanns, Pia ; Collins, Sinead ; Roa, Benjamin B. ; Hedge, Madhuri R. ; Wakui, Keiko ; Nguyen, Diep ; Stockton, David W. ; Lee, Brendan 

    2005-01-01

    We describe the clinical characterization, molecular analyses, and genetic mapping of a distinct genetic condition characterized by craniosynostosis, delayed closure of the fontanel, cranial defects, clavicular hypoplasia, anal and genitourinary malformations, and skin eruption. We have identified seven patients with this phenotype in four families from different geographic regions and ethnic backgrounds. This is an autosomal recessive condition that brings together apparently opposing pathophysiologic and developmental processes, including accelerated suture closure and delayed ossification. Selected candidate genes—including RUNX2, CBFB, MSX2, ALX4, TWIST1, and RECQL4—were screened for mutations, by direct sequencing of their coding regions, and for microdeletions, by fluorescent in situ hybridization. No mutations or microdeletions were detected in any of the genes analyzed. A genomewide screen yielded the maximum estimated LOD score of +2.38 for markers D22S283 and D22S274 on chromosome 22q12-q13. We hypothesize that the gene defect in this condition causes novel context-dependent dysregulation of multiple signaling pathways, including RUNX2, during osteoblast differentiation and craniofacial morphogenesis. PMID:15924278

  8. Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.

    PubMed

    Mendoza-Londono, Roberto; Lammer, Edward; Watson, Rosemarie; Harper, John; Hatamochi, Atsushi; Hatamochi-Hayashi, Saori; Napierala, Dobrawa; Hermanns, Pia; Collins, Sinead; Roa, Benjamin B; Hedge, Madhuri R; Wakui, Keiko; Nguyen, Diep; Stockton, David W; Lee, Brendan

    2005-07-01

    We describe the clinical characterization, molecular analyses, and genetic mapping of a distinct genetic condition characterized by craniosynostosis, delayed closure of the fontanel, cranial defects, clavicular hypoplasia, anal and genitourinary malformations, and skin eruption. We have identified seven patients with this phenotype in four families from different geographic regions and ethnic backgrounds. This is an autosomal recessive condition that brings together apparently opposing pathophysiologic and developmental processes, including accelerated suture closure and delayed ossification. Selected candidate genes--including RUNX2, CBFB, MSX2, ALX4, TWIST1, and RECQL4--were screened for mutations, by direct sequencing of their coding regions, and for microdeletions, by fluorescent in situ hybridization. No mutations or microdeletions were detected in any of the genes analyzed. A genomewide screen yielded the maximum estimated LOD score of +2.38 for markers D22S283 and D22S274 on chromosome 22q12-q13. We hypothesize that the gene defect in this condition causes novel context-dependent dysregulation of multiple signaling pathways, including RUNX2, during osteoblast differentiation and craniofacial morphogenesis. PMID:15924278

  9. Anatomical observations of the foramina transversaria.

    PubMed Central

    Taitz, C; Nathan, H; Arensburg, B

    1978-01-01

    Four hundred and eighty foramina transversaria in dry cervical vertebrae of 36 spines and in a number of dissections were studied and classified according to size, shape, and direction of their main diameter. A coefficient of roundness was then elaborated. The variations of foramina appear to follow a pattern at various vertebral levels. The possible factors (in addition to the embryological ones) involved in causing these variations-for example, mechanical stress, size, course, and number of vertebral vessels-were analysed. The importance of the correct interpretation of the variations in the foramina transversaria in radiographic or computerised axial tomography is discussed. The contribution of the present study to the understanding and diagnosis of pathological conditions related to the vertebral artery and its sympathetic plexus is stressed. Images PMID:632823

  10. A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.

    PubMed

    Labonne, Jonathan D J; Vogt, Julie; Reali, Lisa; Kong, Il-Keun; Layman, Lawrence C; Kim, Hyung-Goo

    2015-12-01

    In Potocki-Shaffer syndrome (PSS), the full phenotypic spectrum is manifested when deletions are at least 2.1 Mb in size at 11p11.2. The PSS-associated genes EXT2 and ALX4, together with PHF21A, all map to this region flanked by markers D11S1393 and D11S1319. Being proximal to EXT2 and ALX4, a 1.1 Mb region containing 12 annotated genes had been identified by deletion mapping to explain PSS phenotypes except multiple exostoses and parietal foramina. Here, we report a male patient with partial PSS phenotypes including global developmental delay, craniofacial anomalies, minor limb anomalies, and micropenis. Using microarray, qPCR, RT-qPCR, and Western blot analyses, we refined the candidate gene region, which harbors five genes, by excluding two genes, SLC35C1 and CRY2, which resulted in a corroborating role of PHF21A in developmental delay and craniofacial anomalies. This microdeletion contains the least number of genes at 11p11.2 reported to date. Additionally, we also discuss the phenotypes observed in our patient with respect to those of published cases of microdeletions across the Potocki-Shaffer interval. PMID:26333423

  11. Craniofacial Abnormalities

    MedlinePlus

    ... of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft ... palate, are among the most common of all birth defects. Others are very rare. Most of them affect ...

  12. Anterior Mandibular Lingual Foramina: An In Vivo Investigation

    PubMed Central

    Rastelli, Claudio; Leuter, Cinzia; Gatto, Roberto; Continenza, Maria Adelaide

    2014-01-01

    In descriptions of surgical procedures in mandible, often there is no mention of an anatomical variance, the genial spinal foramina, where nerves and vessels go through. Aim of this study is to investigate frequency, shape, and dimensions of these foramina. 56 computed tomography dentascans were analyzed with an implant planning software. The considered parameters were frequency, number, position, diameters, and length of canals; the collected data were inserted in a spreadsheet and statistically analyzed; therefore, they were compared with those found in the literature. The measurements agree with the ones found in earlier studies, except for the length of the inferior spinal canals, which resulted lesser than that found in the literature. The frequency of the inferior spinal foramina, the data related to the inferior spinal foramina diameter (cross scan), and the measurements related to the superior spinal foramina diameter (axial scan) resulted to be major compared to those reported in literature. These obtained results are clinically interesting because an implant planning software has been employed, daily used by operators, and that permits in vivo investigations. Furthermore, due to the possibility of hemorrhagic accidents in this mandibular region, these data are particularly interesting for all of the operators who make interventions in this area. PMID:25215238

  13. [Craniofacial neuralgias].

    PubMed

    Mikula, Ivan

    2008-05-01

    Craniofacial neuralgias are characterized by sudden paroxysmal pain along the distribution of one or more of the cranial or upper cervical spinal nerves. The most significant neuralgia of the craniofacial region is trigeminal neuralgia, while geniculate neuralgia, glossopharyngeal neuralgia and occipital neuralgia are less common. Trigeminal neuralgia may be primary or secondary. Idiopathic trigeminal neuralgia or tic douloureux has been recognized for centuries as an extremely painful disorder most commonly involving the maxillary nerve. Recurrent lancinating, shocklike unilateral pain lasting for seconds to minutes is provoked by non noxious stimulation of the skin at specific sites around the face and less frequently by movement of the tongue. The trigger zones are usually within the same dermatome as the painful sensation. After each episode, there is usually a refractive period during which stimulation of the trigger zone will not induce pain. Idiopathic trigeminal neuralgia occurs somewhat more frequently in women and usually begins in individuals 50 to 70 years of age. There is no pain between attacks, and the frequency of painful episodes can range from several per day to only a few per year. With time, the features may become more atypical, with greater areas of more enduring and dull pain and occasionally bilateral pain, rarely on both sides simultaneously. No sensory or reflex deficit is detectable by routine neurologic testing. Diagnostic local anesthetic blocks will identify the specific nerves involved and the trigger point distribution. Neurologic and neuroradiologic examination is advised in all cases to rule out diseases such as intracranical tumors, vascular malformations or multiple sclerosis. PMID:18710080

  14. Occipital foramina development involves localised regulation of mesenchyme proliferation and is independent of apoptosis.

    PubMed

    Akbareian, Sophia E; Pitsillides, Andrew A; Macharia, Raymond G; McGonnell, Imelda M

    2015-06-01

    Cranial foramina are holes within the skull, formed during development, allowing entry and exit of blood vessels and nerves. Once formed they must remain open, due to the vital structures they contain, i.e. optic nerves, jugular vein, carotid artery, and other cranial nerves and blood vessels. Understanding cranial foramina development is essential as cranial malformations lead to the stenosis or complete closure of these structures, resulting in blindness, deafness, facial paralysis, raised intracranial pressure and lethality. Here we focus on describing early events in the formation of the jugular, carotid and hypoglossal cranial foramina that form in the mesoderm-derived, endochondral occipital bones at the base of the embryonic chick skull. Whole-mount skeletal staining of skulls indicates the appearance of these foramina from HH32/D7.5 onwards. Haematoxylin & eosin staining of sections shows that the intimately associated mesenchyme, neighbouring the contents of these cranial foramina, is initially very dense and gradually becomes sparser as development proceeds. Histological examination also revealed that these foramina initially contain relatively large-diameter nerves, which later become refined, and are closely associated with the blood vessel, which they also innervate within the confines of the foramina. Interestingly cranial foramina in the base of the skull contain blood vessels lacking smooth muscle actin, which suggests these blood vessels belong to glomus body structures within the foramina. The blood vessel shape also appears to dictate the overall shape of the resulting foramina. We initially hypothesised that cranial foramina development could involve targeted proliferation and local apoptosis to cause 'mesenchymal clearing' and the creation of cavities in a mechanism similar to joint cavitation. We find that this is not the case, and propose that a mechanism reliant upon local nerve/blood vessel-derived restriction of ossification may contribute

  15. An Anatomical Study of the Nutrient Foramina of the Human Humeral Diaphysis.

    PubMed

    Xue, Zichao; Ding, Haoliang; Hu, Chuanzhen; Xu, Haitao; An, Zhiquan

    2016-01-01

    BACKGROUND Understanding the nutrient foramina is critical to clinical practice. An insult to the nutrient foramina can be caused by trauma and/or surgical dissection and lead to devascularization and bad outcomes. Few studies have looked at the humerus, and no studies have described relative information of humeral nutrient foramen related to anatomical structures that might be located by palpable landmarks. In this study, we analyzed the anatomical features of the nutrient foramina of the diaphyseal humerus and provide a discussion of clinical relevance. MATERIAL AND METHODS We dissected 19 cadavers and analyzed the relative positions of the foramina and surrounding muscles, and the number, direction, diameter, and location of the nutrient foramina. Foramina index and a new landmark index were used to calculate the location. We compared the data from both sides and the relationships between transverse and longitudinal locations, diameter and total length, and foramina index and landmark index were also analyzed. RESULTS The humeri had one or two main nutrient foramina located in a small area between the coracobrachialis and brachial muscles and oriented toward the elbow. The mean diameter was 1.11±0.32 mm. The mean index and landmark index were 43.76±4.94% and 42.26±5.35%, respectively. There were no differences between sides in terms of diameter, length, or nutrient foramina index. There were no significant correlations between transverse and longitudinal locations or diameter and total length. The foramina index and landmark index showed strong positive correlation (r=0.994, p<0.0001). CONCLUSIONS Our study provides details about the nutrient foramina that will benefit clinicians who treat injuries and diseases of the humerus. Surgeons should be mindful of soft tissue in the foraminal area during surgical procedures. PMID:27180828

  16. An Anatomical Study of the Nutrient Foramina of the Human Humeral Diaphysis

    PubMed Central

    Xue, Zichao; Ding, Haoliang; Hu, Chuanzhen; Xu, Haitao; An, Zhiquan

    2016-01-01

    Background Understanding the nutrient foramina is critical to clinical practice. An insult to the nutrient foramina can be caused by trauma and/or surgical dissection and lead to devascularization and bad outcomes. Few studies have looked at the humerus, and no studies have described relative information of humeral nutrient foramen related to anatomical structures that might be located by palpable landmarks. In this study, we analyzed the anatomical features of the nutrient foramina of the diaphyseal humerus and provide a discussion of clinical relevance. Material/Methods We dissected 19 cadavers and analyzed the relative positions of the foramina and surrounding muscles, and the number, direction, diameter, and location of the nutrient foramina. Foramina index and a new landmark index were used to calculate the location. We compared the data from both sides and the relationships between transverse and longitudinal locations, diameter and total length, and foramina index and landmark index were also analyzed. Results The humeri had one or two main nutrient foramina located in a small area between the coracobrachialis and brachial muscles and oriented toward the elbow. The mean diameter was 1.11±0.32 mm. The mean index and landmark index were 43.76±4.94% and 42.26±5.35%, respectively. There were no differences between sides in terms of diameter, length, or nutrient foramina index. There were no significant correlations between transverse and longitudinal locations or diameter and total length. The foramina index and landmark index showed strong positive correlation (r=0.994, p<0.0001). Conclusions Our study provides details about the nutrient foramina that will benefit clinicians who treat injuries and diseases of the humerus. Surgeons should be mindful of soft tissue in the foraminal area during surgical procedures. PMID:27180828

  17. Craniofacial Surgery Fellowship Websites.

    PubMed

    Silvestre, Jason; Agarwal, Divyansh; Taylor, Jesse A

    2016-06-01

    Applicants for craniofacial surgery fellowships utilize Internet-based resources like the San Francisco (SF) Match to manage applications. The purpose of this study was to evaluate the accessibility and content of craniofacial surgery fellowship websites (CSFWs). A list of available craniofacial surgery fellowships was compiled from directories of the American Society of Craniofacial Surgery (ACSFS) and SF Match. Accessibility of CSFWs was assessed via links from these directories and a Google search. Craniofacial surgery fellowship websites were evaluated on education and recruitment content and compared via program characteristics. Twenty-four of the 28 US-based craniofacial surgery fellowship programs had a CSFW (86%). The ACSFS and SF Match databases had limited CSFW accessibility, but a Google search revealed most CSFWs had the top search result (76%). In total, CSFWs provided an average of 39% of education and recruitment variables. While most programs provided fellowship program descriptions (96%), application links (96%), and faculty listings (83%), relatively few provided rotation schedules (13%), fellow selection process information (13%), or interview dates (8%). CSFW content did not vary by program location, faculty size, accreditation status, or institutional affiliations (P > 0.05). Craniofacial surgery fellowships often lack readily accessible websites from national program lists and have limited information for interested applicants. The consistent lack of online information across programs suggests future opportunities exist to improve these educational resources. PMID:27285892

  18. Parietal bone agenesis and associated multiple congenital anomalies.

    PubMed

    de Heer, Inge M; van Nesselrooij, Bernadette P M; Spliet, Willem; Vermeij-Keers, Christl

    2003-03-01

    Congenital defects of the calvaria in general and the parietal bones in particular are rare diseases. The latter are of three kinds: 1) cranioschisis, 2) craniodysostosis, and 3) foramina parietalia permagna (FPP). Here, we describe an exceptional anomaly, namely, complete absence of one parietal bone and dysplasia of the other. Agenesis has been reported twice before in the literature. In these cases, the calvarial defect was the only congenital anomaly. In contrast, the patient described in this article exhibited many other congenital deformities, namely, iris coloboma, facial dysmorphism, a large ventricular septal defect of the heart, and a horseshoe kidney. Some of these deformities are associated with neural crest development. Chromosomal analysis was normal in both blood and fibroblasts, and fluorescent in situ hybridization analysis failed to demonstrate a 22q11 deletion as seen in DiGeorge syndrome, a neural crest-related disease complex. Since 2000, the third group of congenital defects of the parietal bones, FPP, has been associated with mutations of the MSX-2 gene. In our case, a genetic analysis of this gene was performed, but no mutations or deletions of MSX-2 were detected. PMID:12621289

  19. Distribution of the lingual foramina in mandibular cortical bone in Koreans

    PubMed Central

    Kim, Dae Hyun; Kim, Moon Yong

    2013-01-01

    Objectives The interforminal region, between the mandibular foramen, is known as a relatively safe area that is free of anatomic structures, such as inferior alveolar nerve, submandibular fossa, and lingual side of the mandible is occasionally neglected for its low clinical importance. Even in the case of a severely constricted alveolus, perforation of the lingual cortical bone had been intended. However, anterior extension of the inferior alveolar canal, important anatomic structure, such as concavity of lingual bone, lingual foramina, and lingual canal, has recently been reported through various studies, and untypical bleeding by perforation of the lingual plate on implantation has also been reported. Therefore, in this study, we performed radiographic and statistical analysis on distribution and appearance frequencies of the lingual foramina that causes perforation of the mandibular lingual cortical bone to prevent complications, such as untypical bleeding, during surgical procedure. Materials and Methods We measured the horizontal length from a midline of the mandible to the lingual foramina, as well as the horizontal length from the alveolar crest to the lingual foramina and from the lingual foramina to the mandibular border by multi-detector computed tomography of 187 patients, who visited Dankook University Dental Hospital for various reasons from January 1, 2008 to August 31, 2012. Results From a total of 187 human mandibles, 110 (58.8%) mandibles had lingual foramina; 39 (20.9%) had bilateral lingual foramen; 34 (18.2%) had the only left lingual foramen; and 37 (19.8%) had the only right lingual foramen. Conclusion When there is consistent bleeding during a surgical procedure, clinicians must consider damages on the branches of the sublingual artery, which penetrate the lingual foramina. Also, when there is a lingual foramina larger than 1 mm in diameter on a pre-implantation computed tomography, clinicians must beware of vessel damage. In order to prevent

  20. Craniofacial fibrous dysplasia

    PubMed Central

    Jhamb, Aakarsh; Mohanty, Sujata; Jhamb, Parul A

    2012-01-01

    Fibrous dysplasia can present clinically in varied forms which may appear as collision of different pathologic processes. We report a rare case of craniofacial fibrous dysplasia with coexisting epithelial lined cyst and superimposed osteomyelitis with sequestrum formation. Its clinical features and management with possible hypotheses are described along with the post operative course. Pertinent literature has been reviewed with emphasis on pathogenesis of this unique occurrence. PMID:23248490

  1. Craniofacial fibrous dysplasia.

    PubMed

    Ricalde, Pat; Magliocca, Kelly R; Lee, Janice S

    2012-08-01

    Despite recent advances in the understanding of the natural history and molecular abnormalities, many questions remain surrounding the progression and management of fibrous dysplasia (FD). In the absence of comorbidities, the expected behavior of craniofacial FD (CFD) is to be slow growing and without functional consequence. Understanding of the pathophysiologic mechanisms contributing to the various phenotypes of this condition, as well as the predictors of the different behaviors of FD lesions, must be improved. Long-term follow-up of patients with CFD is vital because spontaneous recovery is unlikely, and the course of disease can be unpredictable. PMID:22771278

  2. Enlargement of Neural Foramina and Dynamic Stabilization in Spondylolisthesis without Restoring the Alignment: Technical Note

    PubMed Central

    Suzer, Tuncer; Sasani, Mehdi; Oktenoglu, Tunc; Egemen, Emrah

    2016-01-01

    It is well known that the cause of radiculopathy is the compression of the nerve root within the foramina which is narrowed secondary to sliding of the corpus and reduced disc height. In some patients, unroofing the foramen does not resolve this problem. We described a new decompression technique using pedicle removal and transpedicular dynamic instrumentation to stabilization the spine. We performed this operation in 2 patients and achieved very good results. PMID:27123030

  3. Fibronectin and craniofacial surgery.

    PubMed

    Al-Qattan, Mohammad M; AlShomer, Feras; Alqahtani, Abdullah; Alhadlg, Ahmad

    2014-12-01

    Fibronectin is an essential component of the extracellular matrix. The role of fibronectin in craniofacial surgery has not been previously reviewed. Fibronectin mediates bone differentiation and development of the skull. Studies have shown that normal development of the skull requires a specific pattern of expression around the epithelial-mesenchymal interface of the neurocranium. Fibronectin is also essential in mediating the migration of neural crest cells to form the facial skeleton. The calvaria of patients with Apert and Crouzon syndromes have an abnormally elevated collagen level. However, fibronectin levels are elevated in the former syndrome and decreased in the latter syndrome. The significance of this requires further research. Fibronectin gene expression is increased in port wine-derived fibroblasts in patients with Sturge-Weber syndrome. Normal palatogenesis also requires a specific pattern of expression of fibronectin around the maxillary process as well as the roof of the stomodeum, and several studies have linked the development of cleft lip/palate to an imbalance of fibronectin content of the extracellular matrix. Fibronectin mediates cell-to-cell attachment during repair of calvarial defects; hence, fibronectin has been used as a carrier for bone morphogenetic proteins to treat calvarial defects. Finally, fibronectin is now an essential component in stem cell technology related to craniofacial surgery. PMID:24322634

  4. Regenerative Strategies for Craniofacial Disorders

    PubMed Central

    Garland, Catharine B.; Pomerantz, Jason H.

    2012-01-01

    Craniofacial disorders present markedly complicated problems in reconstruction because of the complex interactions of the multiple, simultaneously affected tissues. Regenerative medicine holds promise for new strategies to improve treatment of these disorders. This review addresses current areas of unmet need in craniofacial reconstruction and emphasizes how craniofacial tissues differ from their analogs elsewhere in the body. We present a problem-based approach to illustrate current treatment strategies for various craniofacial disorders, to highlight areas of need, and to suggest regenerative strategies for craniofacial bone, fat, muscle, nerve, and skin. For some tissues, current approaches offer excellent reconstructive solutions using autologous tissue or prosthetic materials. Thus, new “regenerative” approaches would need to offer major advantages in order to be adopted. In other tissues, the unmet need is great, and we suggest the greatest regenerative need is for muscle, skin, and nerve. The advent of composite facial tissue transplantation and the development of regenerative medicine are each likely to add important new paradigms to our treatment of craniofacial disorders. PMID:23248598

  5. Cell lineage in mammalian craniofacial mesenchyme.

    PubMed

    Yoshida, Toshiyuki; Vivatbutsiri, Philaiporn; Morriss-Kay, Gillian; Saga, Yumiko; Iseki, Sachiko

    2008-01-01

    We have analysed the contributions of neural crest and mesoderm to mammalian craniofacial mesenchyme and its derivatives by cell lineage tracing experiments in mouse embryos, using the permanent genetic markers Wnt1-cre for neural crest and Mesp1-cre for mesoderm, combined with the Rosa26 reporter. At the end of neural crest cell migration (E9.5) the two patterns are reciprocal, with a mutual boundary just posterior to the eye. Mesodermal cells expressing endothelial markers (angioblasts) are found not to respect this boundary; they are associated with the migrating neural crest from the 5-somite stage, and by E9.5 they form a pre-endothelial meshwork throughout the cranial mesenchyme. Mesodermal cells of the myogenic lineage also migrate with neural crest cells, as the branchial arches form. By E17.5 the neural crest-mesoderm boundary in the subectodermal mesenchyme becomes out of register with that of the underlying skeletogenic layer, which is between the frontal and parietal bones. At E13.5 the primordia of these bones lie basolateral to the brain, extending towards the vertex of the skull during the following 4-5 days. We used DiI labelling of the bone primordia in ex-utero E13.5 embryos to distinguish between two possibilities for the origin of the frontal and parietal bones: (1) recruitment from adjacent connective tissue or (2) proliferation of the original primordia. The results clearly demonstrated that the bone primordia extend vertically by intrinsic growth, without detectable recruitment of adjacent mesenchymal cells. PMID:18617001

  6. Craniofacial surgery: present and future.

    PubMed Central

    Whitaker, L A; Schut, L; Randall, P

    1976-01-01

    The possibilities for radical craniofacial restructuring have increased dramatically in the past 6 years with the development of craniofacial surgery. The field developed from a background of patients with major craniofacial birth defects allowing orderly planning and expansion to correction of a multitude of other craniofacial structural problems. The procedures concentrate upon changing the skeletal structures using extensive subperiostial dissection of soft tissue, and adding bone to fill in areas of deficiency. There are three grades of complexity in craniofacial procedures. After extensive soft tissue sub-periostial stripping about the orbits and upper face, the simplest form consists of onlay bone grafts. The next most complicated involves osteotomies to shift the face into a more normal position. In its most complicated form, abnormal proportions of bone are removed and the orbits or cranium are shifted into a new or normal position. We have had experience with 69 patients since September, 1972. Thirty-six have had intracranial procedures. Infection has been the most serious problem, and there have been no instances of death or blindness. A number of lesser problems occur. Future applications of craniofacial surgery are appearing with great frequency as more experience is gained with its uses. It has particular application in acute and late reconstruction of patients with traumatic defects about the face. Preventive osteotomies are an area with great potential, by releasing stenotic areas of bone and allowing the developing brain to mold the upper face and orbits. There is also applicability in surgery of tumors about the craniofacial structure and in cosmetic surgery. Images Fig. 1a. Fig. 1b. Fig. 1c. Fig. 1d. Fig. 1e. Fig. 2a. Fig. 2b. Fig. 2c. PMID:984925

  7. Understanding Cleft and Craniofacial Team Care

    MedlinePlus

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

  8. Biomaterials for Craniofacial Bone Engineering

    PubMed Central

    Tevlin, R.; McArdle, A.; Atashroo, D.; Walmsley, G.G.; Senarath-Yapa, K.; Zielins, E.R.; Paik, K.J.; Longaker, M.T.; Wan, D.C.

    2014-01-01

    Conditions such as congenital anomalies, cancers, and trauma can all result in devastating deficits of bone in the craniofacial skeleton. This can lead to significant alteration in function and appearance that may have significant implications for patients. In addition, large bone defects in this area can pose serious clinical dilemmas, which prove difficult to remedy, even with current gold standard surgical treatments. The craniofacial skeleton is complex and serves important functional demands. The necessity to develop new approaches for craniofacial reconstruction arises from the fact that traditional therapeutic modalities, such as autologous bone grafting, present myriad limitations and carry with them the potential for significant complications. While the optimal bone construct for tissue regeneration remains to be elucidated, much progress has been made in the past decade. Advances in tissue engineering have led to innovative scaffold design, complemented by progress in the understanding of stem cell–based therapy and growth factor enhancement of the healing cascade. This review focuses on the role of biomaterials for craniofacial bone engineering, highlighting key advances in scaffold design and development. PMID:25139365

  9. Bone Grafts in Craniofacial Surgery

    PubMed Central

    Elsalanty, Mohammed E.; Genecov, David G.

    2009-01-01

    Reconstruction of cranial and maxillofacial defects is a challenging task. The standard reconstruction method has been bone grafting. In this review, we shall describe the biological principles of bone graft healing, as pertinent to craniofacial reconstruction. Different types and sources of bone grafts will be discussed, as well as new methods of bone defect reconstruction. PMID:22110806

  10. Craniofacial reconstruction following oncologic resection.

    PubMed

    Hanasono, Matthew M; Hofstede, Theresa M

    2013-01-01

    The ability to reliably reconstruct complex and sizable wounds has decreased the morbidity of skull base surgery substantially, preventing major complications and allowing treatment of tumors previously considered inoperable. Addressing facial nerve function with static and dynamic procedures as well as fabrication of craniofacial prostheses to replace delicate facial landmarks has further increased surgeons' ability to restore the appearance and function of the face. PMID:23174362

  11. National Institute of Dental and Craniofacial Research

    MedlinePlus

    ... and craniofacial health of our nation. Grants & Funding Funding Opportunity Announcements By Topic RFAs PAs See All Grants & Funding Application Forms and Deadlines Grant Application Forms Application ...

  12. Biomimetic approaches to complex craniofacial defects.

    PubMed

    Teven, Chad M; Fisher, Sean; Ameer, Guillermo A; He, Tong-Chuan; Reid, Russell R

    2015-01-01

    The primary goals of craniofacial reconstruction include the restoration of the form, function, and facial esthetics, and in the case of pediatric patients, respect for craniofacial growth. The surgeon, however, faces several challenges when attempting a reconstructive cranioplasty. For that reason, craniofacial defect repair often requires sophisticated treatment strategies and multidisciplinary input. In the ideal situation, autologous tissue similar in structure and function to that which is missing can be utilized for repair. In the context of the craniofacial skeleton, autologous cranial bone, or secondarily rib, iliac crest, or scapular bone, is most favorable. Often, this option is limited by the finite supply of available bone. Therefore, alternative strategies to repair craniofacial defects are necessary. In the field of regenerative medicine, tissue engineering has emerged as a promising concept, and several methods of bone engineering are currently under investigation. A growth factor-based approach utilizing bone morphogenetic proteins (BMPs) has demonstrated stimulatory effects on cranial bone and defect repair. When combined with cell-based and matrix-based models, regenerative goals can be optimized. This manuscript intends to review recent investigations of tissue engineering models used for the repair of craniofacial defects with a focus on the role of BMPs, scaffold materials, and novel cell lines. When sufficient autologous bone is not available, safe and effective strategies to engineer bone would allow the surgeon to meet the reconstructive goals of the craniofacial skeleton. PMID:26389027

  13. Heritability of the Human Craniofacial Complex.

    PubMed

    Šešelj, Maja; Duren, Dana L; Sherwood, Richard J

    2015-09-01

    Quantifying normal variation and the genetic underpinnings of anatomical structures is one of the main goals of modern morphological studies. However, the extent of genetic contributions to normal variation in craniofacial morphology in humans is still unclear. The current study addresses this gap by investigating the genetic underpinnings of normal craniofacial morphology. The sample under investigation consists of 75 linear and angular measurements spanning the entire craniofacial complex, recorded from lateral cephalographs of 1,379 participants in the Fels Longitudinal Study. Heritabilities for each trait were estimated using SOLAR, a maximum-likelihood variance components approach utilizing all pedigree information for parameter estimation. Trait means and mean effects of the covariates age, sex, age(2) , sex × age, and sex × age(2) were simultaneously estimated in the analytic models. All traits of the craniofacial complex were significantly heritable. Heritability estimates ranged from 0.10 to 0.60, with the majority being moderate. It is important to note that we found similar ranges of heritability occurring across the different functional/developmental components of the craniofacial complex, the splanchnocranium, the basicranium, and the neurocranium. This suggests that traits from different regions of the craniofacial complex are of comparable utility for the purposes of population history and phylogeny reconstruction. At the same time, this genetic influence on craniofacial morphology signals a caution to researchers of nongenetic studies to consider the implications of this finding when selecting samples for study given their project design and goals. PMID:26097051

  14. Biomimetic approaches to complex craniofacial defects

    PubMed Central

    Teven, Chad M.; Fisher, Sean; Ameer, Guillermo A.; He, Tong-Chuan; Reid, Russell R.

    2015-01-01

    The primary goals of craniofacial reconstruction include the restoration of the form, function, and facial esthetics, and in the case of pediatric patients, respect for craniofacial growth. The surgeon, however, faces several challenges when attempting a reconstructive cranioplasty. For that reason, craniofacial defect repair often requires sophisticated treatment strategies and multidisciplinary input. In the ideal situation, autologous tissue similar in structure and function to that which is missing can be utilized for repair. In the context of the craniofacial skeleton, autologous cranial bone, or secondarily rib, iliac crest, or scapular bone, is most favorable. Often, this option is limited by the finite supply of available bone. Therefore, alternative strategies to repair craniofacial defects are necessary. In the field of regenerative medicine, tissue engineering has emerged as a promising concept, and several methods of bone engineering are currently under investigation. A growth factor-based approach utilizing bone morphogenetic proteins (BMPs) has demonstrated stimulatory effects on cranial bone and defect repair. When combined with cell-based and matrix-based models, regenerative goals can be optimized. This manuscript intends to review recent investigations of tissue engineering models used for the repair of craniofacial defects with a focus on the role of BMPs, scaffold materials, and novel cell lines. When sufficient autologous bone is not available, safe and effective strategies to engineer bone would allow the surgeon to meet the reconstructive goals of the craniofacial skeleton. PMID:26389027

  15. Advances in Bioprinting Technologies for Craniofacial Reconstruction.

    PubMed

    Visscher, Dafydd O; Farré-Guasch, Elisabet; Helder, Marco N; Gibbs, Susan; Forouzanfar, Tymour; van Zuijlen, Paul P; Wolff, Jan

    2016-09-01

    Recent developments in craniofacial reconstruction have shown important advances in both the materials and methods used. While autogenous tissue is still considered to be the gold standard for these reconstructions, the harvesting procedure remains tedious and in many cases causes significant donor site morbidity. These limitations have subsequently led to the development of less invasive techniques such as 3D bioprinting that could offer possibilities to manufacture patient-tailored bioactive tissue constructs for craniofacial reconstruction. Here, we discuss the current technological and (pre)clinical advances of 3D bioprinting for use in craniofacial reconstruction and highlight the challenges that need to be addressed in the coming years. PMID:27113634

  16. Stem Cells in Teeth and Craniofacial Bones.

    PubMed

    Zhao, H; Chai, Y

    2015-11-01

    Stem cells are remarkable, and stem cell-based tissue engineering is an emerging field of biomedical science aiming to restore damaged tissue or organs. In dentistry and reconstructive facial surgery, it is of great interest to restore lost teeth or craniofacial bone defects using stem cell-mediated therapy. In the craniofacial region, various stem cell populations have been identified with regeneration potential. In this review, we provide an overview of the current knowledge concerning the various types of tooth- and craniofacial bone-related stem cells and discuss their in vivo identities and regulating mechanisms. PMID:26350960

  17. Core issues in craniofacial myogenesis

    SciTech Connect

    Kelly, Robert G.

    2010-11-01

    Branchiomeric craniofacial muscles control feeding, breathing and facial expression. These muscles differ on multiple counts from all other skeletal muscles and originate in a progenitor cell population in pharyngeal mesoderm characterized by a common genetic program with an adjacent population of cardiac progenitor cells, the second heart field, that gives rise to much of the heart. The transcription factors and signaling molecules that trigger the myogenic program at sites of branchiomeric muscle formation are correspondingly distinct from those in somite-derived muscle progenitor cells. Here new insights into the regulatory hierarchies controlling branchiomeric myogenesis are discussed. Differences in embryological origin are reflected in the lineage, transcriptional program and proliferative and differentiation properties of branchiomeric muscle satellite cells. These recent findings have important implications for our understanding of the diverse myogenic strategies operative both in the embryo and adult and are of direct biomedical relevance to deciphering the mechanisms underlying the cause and progression of muscle restricted myopathies.

  18. Orthognathic Surgery in Craniofacial Microsomia: Treatment Algorithm

    PubMed Central

    Valladares, Salvador; Torrealba, Ramón; Nuñez, Marcelo; Uribe, Francisca

    2015-01-01

    Summary: Craniofacial microsomia is a broad term that covers a variety of craniofacial malformation conditions that are caused by alterations in the derivatives of the first and second pharyngeal arches. In general terms, diverse therapeutic alternatives are proposed according to the growth stage and the severity of the alteration. When craniofacial growth has concluded, conventional orthognathic surgery (Le Fort I osteotomy, bilateral sagittal split osteotomy, and genioplasty) provides good alternatives for MI and MIIA type cases. Reconstruction of the mandibular ramus and temporomandibular joint before orthognathic surgery is the indicated treatment for cases MIIB and MIII. The goal of this article is to establish a surgical treatment algorithm for orthognathic surgery on patients with craniofacial microsomia, analyzing the points that allow the ideal treatment for each patient to be chosen. PMID:25674375

  19. Craniofacial and Dental Development in Costello Syndrome

    PubMed Central

    Goodwin, Alice F.; Oberoi, Snehlata; Landan, Maya; Charles, Cyril; Massie, Jessica C.; Fairley, Cecilia; Rauen, Katherine A.; Klein, Ophir D.

    2014-01-01

    Costello syndrome (CS) is a RASopathy characterized by a wide range of cardiac, musculoskeletal, dermatological, and developmental abnormalities. The RASopathies are defined as a group of syndromes caused by activated Ras/mitogen-activated protein kinase (MAPK) signaling. Specifically, CS is caused by activating mutations in HRAS. Although receptor tyrosine kinase (RTK) signaling, which is upstream of Ras/MAPK, is known to play a critical role in craniofacial and dental development, the craniofacial and dental features of CS have not been systematically defined in a large group of individuals. In order to address this gap in our understanding and fully characterize the CS phenotype, we evaluated the craniofacial and dental phenotype in a large cohort (n=41) of CS individuals. We confirmed that the craniofacial features common in CS include macrocephaly, bitemporal narrowing, convex facial profile, full cheeks, and large mouth. Additionally, CS patients have a characteristic dental phenotype that includes malocclusion with anterior open bite and posterior crossbite, enamel hypo-mineralization, delayed tooth development and eruption, gingival hyperplasia, thickening of the alveolar ridge, and high palate. Comparison of the craniofacial and dental phenotype in CS with other RASopathies, such as cardio-facio-cutaneous syndrome (CFC), provides insight into the complexities of Ras/MAPK signaling in human craniofacial and dental development. PMID:24668879

  20. Volume reduction of the jugular foramina in Cavalier King Charles Spaniels with syringomyelia

    PubMed Central

    2012-01-01

    Background Understanding the pathogenesis of the chiari-like malformation in the Cavalier King Charles Spaniel (CKCS) is incomplete, and current hypotheses do not fully explain the development of syringomyelia (SM) in the spinal cords of affected dogs. This study investigates an unconventional pathogenetic theory for the development of cerebrospinal fluid (CSF) pressure waves in the subarachnoid space in CKCS with SM, by analogy with human diseases. In children with achondroplasia the shortening of the skull base can lead to a narrowing of the jugular foramina (JF) between the cranial base synchondroses. This in turn has been reported to cause a congestion of the major venous outflow tracts of the skull and consequently to an increase in the intracranial pressure (ICP). Amongst brachycephalic dog breeds the CKCS has been identified as having an extremely short and wide braincase. A stenosis of the JF and a consequential vascular compromise in this opening could contribute to venous hypertension, raising ICP and causing CSF jets in the spinal subarachnoid space of the CKCS. In this study, JF volumes in CKCSs with and without SM were compared to assess a possible role of this pathologic mechanism in the development of SM in this breed. Results Computed tomography (CT) scans of 40 CKCSs > 4 years of age were used to create three-dimensional (3D) models of the skull and the JF. Weight matched groups (7–10 kg) of 20 CKCSs with SM and 20 CKCSs without SM were compared. CKCSs without SM presented significantly larger JF -volumes (median left JF: 0.0633 cm3; median right JF: 0.0703 cm3; p < 0.0001) when compared with CKCSs with SM (median left JF: 0.0382 cm3; median right JF: 0.0434 cm3; p < 0.0001). There was no significant difference between the left and right JF within each group. Bland-Altman analysis revealed excellent reproducibility of all volume measurements. Conclusion A stenosis of the JF and consecutive venous congestion may explain the aetiology of CSF

  1. The 50 Most Cited Papers in Craniofacial Anomalies and Craniofacial Surgery

    PubMed Central

    Joyce, Cormac W; Thomas, Sangeetha; Concannon, Elizabeth; Murray, Dylan

    2015-01-01

    Background Citation analysis is a recognized scientometric method of classifying cited articles according to the frequency of which they have been referenced. The total number of citations an article receives is considered to reflect it's significance among it's peers. Methods Until now, a bibliometric analysis has never been performed in the specialty of craniofacial anomalies and craniofacial surgery. This citation analysis generates an extensive list of the 50 most influential papers in this developing field. Journals specializing in craniofacial surgery, maxillofacial surgery, plastic surgery, neurosurgery, genetics and pediatrics were searched to demonstrate which articles have cultivated the specialty within the past 55 years. Results The results show an intriguing compilation of papers which outline the fundamental knowledge of craniofacial anomalies and the developments of surgical techniques to manage these patients. Conclusions This citation analysis provides a summation of the current most popular trends in craniofacial literature. These esteemed papers aid to direct our decision making today within this specialty. PMID:26430626

  2. Progressive bilateral thinning of the parietal bones

    SciTech Connect

    Cederlund, C.G.; Andren, L.; Olivecrona, H.

    1982-03-01

    Observation of a case of progressive bilateral parietal thinning within a period of 14 years induced us to study skull films of 3 636 consecutive patients. Parietal thinning was found in 86 patients (2.37%). It was more common in women, with a sex ratio of 1:1.9. The mean age of the females was 72 years, and that of the males 63 years. Previous skull films of 25 of these patients were available and showed progression in 10. It is concluded that parietal thinning is a slowly progressive disease of middle-aged and old patients and is not an anatomical variant or congenital dysplasia of the dipole.

  3. Craniofacial plasticity in ancient Peru.

    PubMed

    Stone, Jessica H; Chew, Kristen; Ross, Ann H; Verano, John W

    2015-01-01

    Numerous studies have utilized craniometric data to explore the roles of genetic diversity and environment in human cranial shape variation. Peru is a particularly interesting region to examine cranial variation due to the wide variety of high and low altitude ecological zones, which in combination with rugged terrain have created isolated populations with vastly different physiological adaptations. This study examines seven samples from throughout Peru in an effort to understand the contributions of environmental adaptation and genetic relatedness to craniofacial variation at a regional scale. Morphological variation was investigated using a canonical discriminant analysis and Mahalanobis D(2) analysis. Results indicate that all groups are significantly different from one another with the closest relationship between Yauyos and Jahuay, two sites that are located geographically close in central Peru but in very different ecozones. The relationship between latitude/longitude and face shape was also examined with a spatial autocorrelation analysis (Moran's I) using ArcMap and show that there is significant spatial patterning for facial measures and geographic location suggesting that there is an association between biological variation and geographic location. PMID:25807293

  4. Dramatic Cataplexy Improvement Following Right Parietal Surgery

    PubMed Central

    Fam, David J.; Shammi, Prathiba; Mainprize, Todd G.; Murray, Brian J.

    2015-01-01

    This is the case of a 34-year-old woman with severe narcolepsy with cataplexy who experienced a dramatic reduction in cataplexy symptoms after resection of a right parietal astrocytoma. The patient underwent detailed neurological exam, neuropsychological testing, polysomnography and multiple sleep latency testing following surgery. Citation: Fam DJ, Shammi P, Mainprize TG, Murray BJ. Dramatic cataplexy improvement following right parietal surgery. J Clin Sleep Med 2015;11(7):829–830. PMID:25902819

  5. Craniofacial characteristics of Croatian and Syrian populations.

    PubMed

    Grbesa, Durdica; Pezerović-Panijan, Ruzica; Kalaya, Mohamed Nadim; Gorsić, Irma; Cavcić, Anamarija; Zura, Nikolino; Berberović, Behija

    2007-12-01

    Craniofacial area is apart of the human body which undergoes the greatest changes during development and is characterized by uneven growth. External and internal factors affect the growth and development of craniofacial structures. They are responsible for the occurrence of specific craniofacial characteristics in different races or populations within the same race. The present study investigates the possible differences of the basic head and face shapes between the Croatian and Syrian populations. The sample included 400 subjects of both sexes aged 18-24 years and was divided into a Croatian and a Syrian group with 200 subjects each. Six variables defined according to Martin and Saller were measured by standard anthropometric instruments. The results of the study demonstrated statistically significant differences between our subjects in all variables except face width. The dolichocephalic head type and the mesoprosopic face type were predominant in the Croatian population, while the brachycephalic head type and the euryprosopic face type dominated in the Syrian population. PMID:18217470

  6. Craniofacial ontogeny in Centrosaurus apertus

    PubMed Central

    Tumarkin-Deratzian, Allison R.

    2014-01-01

    Centrosaurus apertus, a large bodied ceratopsid from the Late Cretaceous of North America, is one of the most common fossils recovered from the Belly River Group. This fossil record shows a wide diversity in morphology and size, with specimens ranging from putative juveniles to fully-grown individuals. The goal of this study was to reconstruct the ontogenetic changes that occur in the craniofacial skeleton of C. apertus through a quantitative cladistic analysis. Forty-seven cranial specimens were independently coded in separate data matrices for 80 hypothetical multistate growth characters and 130 hypothetical binary growth characters. Both analyses yielded the max-limit of 100,000 most parsimonious saved trees and the strict consensus collapsed into large polytomies. In order to reduce conflict resulting from missing data, fragmentary individuals were removed and the analyses were rerun. Among both the complete and the reduced data sets the multistate analyses recovered a shorter tree with a higher consistency index (CI) than the additive binary data sets. The arrangement within the trees shows a progression of specimens with a recurved nasal horn in the least mature individuals, followed by specimens with straight nasal horns in relatively more mature individuals, and finally specimens with procurved nasal horns in the most mature individuals. The most mature individuals are further characterized by the reduction of the cranial horn ornamentations in late growth stages, a trait that similarly occurs in the growth of other dinosaurs. Bone textural changes were found to be sufficient proxies for relative maturity in individuals that have not reached adult size. Additionally, frill length is congruent with relative maturity status and makes an acceptable proxy for ontogenetic status, especially in smaller individuals. In adult-sized individuals, the fusion of the epiparietals and episquamosals and the orientation of the nasal horn are the best indicators of relative

  7. Craniofacial ontogeny in Centrosaurus apertus.

    PubMed

    Frederickson, Joseph A; Tumarkin-Deratzian, Allison R

    2014-01-01

    Centrosaurus apertus, a large bodied ceratopsid from the Late Cretaceous of North America, is one of the most common fossils recovered from the Belly River Group. This fossil record shows a wide diversity in morphology and size, with specimens ranging from putative juveniles to fully-grown individuals. The goal of this study was to reconstruct the ontogenetic changes that occur in the craniofacial skeleton of C. apertus through a quantitative cladistic analysis. Forty-seven cranial specimens were independently coded in separate data matrices for 80 hypothetical multistate growth characters and 130 hypothetical binary growth characters. Both analyses yielded the max-limit of 100,000 most parsimonious saved trees and the strict consensus collapsed into large polytomies. In order to reduce conflict resulting from missing data, fragmentary individuals were removed and the analyses were rerun. Among both the complete and the reduced data sets the multistate analyses recovered a shorter tree with a higher consistency index (CI) than the additive binary data sets. The arrangement within the trees shows a progression of specimens with a recurved nasal horn in the least mature individuals, followed by specimens with straight nasal horns in relatively more mature individuals, and finally specimens with procurved nasal horns in the most mature individuals. The most mature individuals are further characterized by the reduction of the cranial horn ornamentations in late growth stages, a trait that similarly occurs in the growth of other dinosaurs. Bone textural changes were found to be sufficient proxies for relative maturity in individuals that have not reached adult size. Additionally, frill length is congruent with relative maturity status and makes an acceptable proxy for ontogenetic status, especially in smaller individuals. In adult-sized individuals, the fusion of the epiparietals and episquamosals and the orientation of the nasal horn are the best indicators of relative

  8. Growth Hormone and Craniofacial Tissues. An update

    PubMed Central

    Litsas, George

    2015-01-01

    Growth hormone is an important regulator of bone homeostasis. In childhood, it determines the longitudinal bone growth, skeletal maturation, and acquisition of bone mass. In adulthood, it is necessary to maintain bone mass throughout life. Although an association between craniofacial and somatic development has been clearly established, craniofacial growth involves complex interactions of genes, hormones and environment. Moreover, as an anabolic hormone seems to have an important role in the regulation of bone remodeling, muscle enhancement and tooth development. In this paper the influence of growth hormone on oral tissues is reviewed. PMID:25674165

  9. Craniofacial reconstruction using rational cubic ball curves.

    PubMed

    Majeed, Abdul; Mt Piah, Abd Rahni; Gobithaasan, R U; Yahya, Zainor Ridzuan

    2015-01-01

    This paper proposes the reconstruction of craniofacial fracture using rational cubic Ball curve. The idea of choosing Ball curve is based on its robustness of computing efficiency over Bezier curve. The main steps are conversion of Digital Imaging and Communications in Medicine (Dicom) images to binary images, boundary extraction and corner point detection, Ball curve fitting with genetic algorithm and final solution conversion to Dicom format. The last section illustrates a real case of craniofacial reconstruction using the proposed method which clearly indicates the applicability of this method. A Graphical User Interface (GUI) has also been developed for practical application. PMID:25880632

  10. Craniofacial Reconstruction Using Rational Cubic Ball Curves

    PubMed Central

    Majeed, Abdul; Mt Piah, Abd Rahni; Gobithaasan, R. U.; Yahya, Zainor Ridzuan

    2015-01-01

    This paper proposes the reconstruction of craniofacial fracture using rational cubic Ball curve. The idea of choosing Ball curve is based on its robustness of computing efficiency over Bezier curve. The main steps are conversion of Digital Imaging and Communications in Medicine (Dicom) images to binary images, boundary extraction and corner point detection, Ball curve fitting with genetic algorithm and final solution conversion to Dicom format. The last section illustrates a real case of craniofacial reconstruction using the proposed method which clearly indicates the applicability of this method. A Graphical User Interface (GUI) has also been developed for practical application. PMID:25880632

  11. Influence of congenital facial nerve palsy on craniofacial growth in craniofacial microsomia.

    PubMed

    Choi, Jaehoon; Park, Sang Woo; Kwon, Geun-Yong; Kim, Sang-Hyun; Hur, Ji An; Baek, Seung-Hak; Kim, Jae Chan; Choi, Tae Hyun; Kim, Sukwha

    2014-11-01

    Facial muscles are of major importance in human craniofacial growth and development. The purpose of our study was to investigate whether congenital facial nerve palsy influences craniofacial growth in craniofacial microsomia. Fifty-one patients with unilateral craniofacial microsomia and no history of craniofacial skeletal surgery whose radiographs were taken after craniofacial growth was complete were included in this study. These patients were divided into groups in which the facial nerve was involved or uninvolved. The authors evaluated a total of seven measurement items to analyze the midface and mandibular asymmetry. Twenty patients had facial nerve involvement, and 31 had no involvement. None of the measurement items revealed any significant differences between the facial nerve-involved group and the uninvolved group within the same modified Pruzansky grade. There was no correlation between the type of facial nerve involvement and the measurement items. In relationships among the measurement items within each group, maxillary asymmetry was indirectly correlated with mandibular asymmetry or midline deviation through the occlusal plane angle in the uninvolved groups. However, in the facial nerve-involved group, the relationships disappeared. When the correlations in the facial nerve-involved group were compared with those of the uninvolved group, the relationships in the uninvolved group appeared more significant than in the facial nerve-involved group. The loss of relationships between the upper and lower jaw in the facial nerve-involved group might have been caused by subtle changes, which occur in midfacial bones and in the mandible due to facial nerve palsy. The main limitation of our study is that aside from facial nerve palsy, craniofacial microsomia has many factors that can influence craniofacial growth, such as hypoplasia of the mandibular condyle and soft tissue deficiencies. PMID:25210001

  12. Parietal contributions to recollection: electrophysiological evidence from aging and patients with parietal lesions.

    PubMed

    Ally, Brandon A; Simons, Jon S; McKeever, Joshua D; Peers, Polly V; Budson, Andrew E

    2008-01-01

    There has been much recent investigation into the role of parietal cortex in memory retrieval. Proposed hypotheses include attention to internal memorial representations, an episodic working memory-type buffer, and an accumulator of retrieved memorial information. The current investigation used event-related potentials (ERPs) to test the episodic buffer hypothesis, and to assess the memorial contribution of parietal cortex in younger and older adults, and in patients with circumscribed lateral parietal lesions. In a standard recognition memory paradigm, subjects studied color pictures of common objects. One-third of the test items were presented in the same viewpoint as the study phase, one-third were presented in a 90 degrees rotated viewpoint, and one-third were presented in a noncanonical viewpoint. Conflicting with the episodic buffer hypothesis, results revealed that the duration of the parietal old/new effect was longest for the canonical condition and shortest for the noncanonical condition. Results also revealed that older adults demonstrated a diminished parietal old/new effect relative to younger adults. Consistent with previous data reported by Simons et al., patients with lateral parietal lesions showed no behavioral impairment compared to controls. Behavioral and ERP data from parietal lesion patients are presented and discussed. From these results, the authors speculate that the parietal old/new effect may be the neural correlate of an individual's subjective recollective experience. PMID:18402990

  13. Mouse Models of Rare Craniofacial Disorders.

    PubMed

    Achilleos, Annita; Trainor, Paul A

    2015-01-01

    A rare disease is defined as a condition that affects less than 1 in 2000 individuals. Currently more than 7000 rare diseases have been documented, and most are thought to be of genetic origin. Rare diseases primarily affect children, and congenital craniofacial syndromes and disorders constitute a significant proportion of rare diseases, with over 700 having been described to date. Modeling craniofacial disorders in animal models has been instrumental in uncovering the etiology and pathogenesis of numerous conditions and in some cases has even led to potential therapeutic avenues for their prevention. In this chapter, we focus primarily on two general classes of rare disorders, ribosomopathies and ciliopathies, and the surprising finding that the disruption of fundamental, global processes can result in tissue-specific craniofacial defects. In addition, we discuss recent advances in understanding the pathogenesis of an extremely rare and specific craniofacial condition known as syngnathia, based on the first mouse models for this condition. Approximately 1% of all babies are born with a minor or major developmental anomaly, and individuals suffering from rare diseases deserve the same quality of treatment and care and attention to their disease as other patients. PMID:26589934

  14. EARLY CRANIOFACIAL DEVELOPMENT: LIFE AMONG THE SIGNALS

    EPA Science Inventory

    Early Craniofacial Development: Life Among the Signals. Sid Hunter and Keith Ward. Reproductive Toxicology Division, NHEERL, US EPA, RTP, NC, 27711

    Haloacetic acids (HAA) are chemicals formed during drinking water disinfection and present in finished tap water. Exposure o...

  15. Injectable Biomaterials for Regenerating Complex Craniofacial Tissues**

    PubMed Central

    Kretlow, James D.; Young, Simon; Klouda, Leda; Wong, Mark; Mikos, Antonios G.

    2009-01-01

    Engineering complex tissues requires a precisely formulated combination of cells, spatiotemporally released bioactive factors, and a specialized scaffold support system. Injectable materials, particularly those delivered in aqueous solution, are considered ideal delivery vehicles for cells and bioactive factors and can also be delivered through minimally invasive methods and fill complex 3D shapes. In this review, we examine injectable materials that form scaffolds or networks capable of both replacing tissue function early after delivery and supporting tissue regeneration over a time period of weeks to months. The use of these materials for tissue engineering within the craniofacial complex is challenging but ideal as many highly specialized and functional tissues reside within a small volume in the craniofacial structures and the need for minimally invasive interventions is desirable due to aesthetic considerations. Current biomaterials and strategies used to treat craniofacial defects are examined, followed by a review of craniofacial tissue engineering, and finally an examination of current technologies used for injectable scaffold development and drug and cell delivery using these materials. PMID:19750143

  16. Psychosocial adjustment and craniofacial malformations in childhood.

    PubMed

    Pertschuk, M J; Whitaker, L A

    1985-02-01

    Forty-three children between the ages of 6 and 13 years with congenital facial anomalies underwent psychosocial evaluation prior to surgery. Also evaluated were healthy children matched to the craniofacial subjects by sex, age, intelligence, and economic background. Relative to this comparison group, the craniofacial children were found to have poorer self-concept, greater anxiety at the time of evaluation, and more introversion. Parents of the craniofacial children noted more frequent negative social encounters for their children and more hyperactive behavior at home. Teachers reported more problematic classroom behavior. Examination of these results revealed craniofacial malformations to be associated with psychosocial limitations rather than marked deficits. These children tended to function less well than the comparison children, but with few exceptions, they were not functioning in a psychosocially deviant range. Explanations for the observed circumscribed impact of facial deformity include the use of denial as a coping mechanism, possible diminished significance of appearance for younger children, and the restricted environment experienced by most of the subjects. It can be predicted that time would render these protective influences ineffective, so that adolescent and young adult patients could be at far greater psychosocial risk. PMID:3969404

  17. Bone Repair Cells for Craniofacial Regeneration

    PubMed Central

    Pagni, G; Kaigler, D; Rasperini, G; Avila-Ortiz, G; Bartel, R; Giannobile, WV

    2012-01-01

    Reconstruction of complex craniofacial deformities is a clinical challenge in situations of injury, congenital defects or disease. The use of cell-based therapies represents one of the most advanced methods for enhancing the regenerative response for craniofacial wound healing. Both Somatic and Stem Cells have been adopted in the treatment of complex osseous defects and advances have been made in finding the most adequate scaffold for the delivery of cell therapies in human regenerative medicine. As an example of such approaches for clinical application for craniofacial regeneration, Ixmyelocel-T or bone repair cells are a source of bone marrow derived stem and progenitor cells. They are produced through the use of single pass perfusion bioreactors for CD90+ mesenchymal stem cells and CD14+ monocyte/macrophage progenitor cells. The application of ixmyelocel-T has shown potential in the regeneration of muscular, vascular, nervous and osseous tissue. The purpose of this manuscript is to highlight cell therapies used to repair bony and soft tissue defects in the oral and craniofacial complex. The field at this point remains at an early stage, however this review will provide insights into the progress being made using cell therapies for eventual development into clinical practice. PMID:22433781

  18. Family Members as Participants on Craniofacial Teams.

    ERIC Educational Resources Information Center

    Andrews, James; Seaver, Earl; Stevens, George; Whiteley, Joseph

    1998-01-01

    Family members (N=83) who participated in professional team staffing concerning treatment plans for their child with a craniofacial difference (typically, cleft lip and/or palate) were surveyed. Ninety-seven percent of respondents said they would choose to meet with the team on their next visit to the clinic. The role of early interventionists on…

  19. Discrimination among adults with craniofacial conditions.

    PubMed

    Roberts, Rachel M

    2014-01-01

    The primary goal of this study was to establish the level of perceived discrimination experienced by adults with congenital craniofacial conditions in Australia and to examine predictors of discrimination. Specifically, this study tested whether social support mediates the relationship between discrimination and health. Adults (n = 93) who had been treated at the Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide for congenital craniofacial conditions (not including cleft lip and/or palate) completed questionnaires examining satisfaction with life, quality of life, anxiety and depression, self-esteem, satisfaction with social support, and satisfaction with appearance. A substantial minority of adults with congenital craniofacial conditions reported that they experience discrimination almost every day in a range of areas. Higher reports of discrimination were related to older age, being male, and less education. Other factors related to higher discrimination included lower levels of satisfaction with life, self-esteem, satisfaction with appearance and mental quality of life, as well as higher levels of anxiety and depression. Social support partially mediated the relationship between discrimination and mental health outcomes. The current study shows that discrimination experiences continue into adulthood confirming the importance of ensuring patients are well supported both by psychosocial services as well as within their own social support networks. PMID:24240765

  20. Spatial updating in human parietal cortex

    NASA Technical Reports Server (NTRS)

    Merriam, Elisha P.; Genovese, Christopher R.; Colby, Carol L.

    2003-01-01

    Single neurons in monkey parietal cortex update visual information in conjunction with eye movements. This remapping of stimulus representations is thought to contribute to spatial constancy. We hypothesized that a similar process occurs in human parietal cortex and that we could visualize it with functional MRI. We scanned subjects during a task that involved remapping of visual signals across hemifields. We observed an initial response in the hemisphere contralateral to the visual stimulus, followed by a remapped response in the hemisphere ipsilateral to the stimulus. We ruled out the possibility that this remapped response resulted from either eye movements or visual stimuli alone. Our results demonstrate that updating of visual information occurs in human parietal cortex.

  1. Apraxia, pantomime and the parietal cortex

    PubMed Central

    Niessen, E.; Fink, G.R.; Weiss, P.H.

    2014-01-01

    Apraxia, a disorder of higher motor cognition, is a frequent and outcome-relevant sequel of left hemispheric stroke. Deficient pantomiming of object use constitutes a key symptom of apraxia and is assessed when testing for apraxia. To date the neural basis of pantomime remains controversial. We here review the literature and perform a meta-analysis of the relevant structural and functional imaging (fMRI/PET) studies. Based on a systematic literature search, 10 structural and 12 functional imaging studies were selected. Structural lesion studies associated pantomiming deficits with left frontal, parietal and temporal lesions. In contrast, functional imaging studies associate pantomimes with left parietal activations, with or without concurrent frontal or temporal activations. Functional imaging studies that selectively activated parietal cortex adopted the most stringent controls. In contrast to previous suggestions, current analyses show that both lesion and functional studies support the notion of a left-hemispheric fronto-(temporal)-parietal network underlying pantomiming object use. Furthermore, our review demonstrates that the left parietal cortex plays a key role in pantomime-related processes. More specifically, stringently controlled fMRI-studies suggest that in addition to storing motor schemas, left parietal cortex is also involved in activating these motor schemas in the context of pantomiming object use. In addition to inherent differences between structural and functional imaging studies and consistent with the dedifferentiation hypothesis, the age difference between young healthy subjects (typically included in functional imaging studies) and elderly neurological patients (typically included in structural lesion studies) may well contribute to the finding of a more distributed representation of pantomiming within the motor-dominant left hemisphere in the elderly. PMID:24967158

  2. Parietal function in good and poor readers

    PubMed Central

    Laycock, Robin; Crewther, Sheila G; Kiely, Patricia M; Crewther, David P

    2006-01-01

    Background While there are many psychophysical reports of impaired magnocellular pathway function in developmental dyslexia (DD), few have investigated parietal function, the major projection of this pathway, in good and poor readers closely matched for nonverbal intelligence. In view of new feedforward-feedback theories of visual processing, impaired magnocellular function raises the question of whether all visually-driven functions or only those associated with parietal cortex functions are equally impaired and if so, whether parietal performance is more closely related to general ability levels than reading ability. Methods Reading accuracy and performance on psychophysical tasks purported to selectively activate parietal cortex such as motion sensitivity, attentional tracking, and spatial localization was compared in 17 children with DD, 16 younger reading-age matched (RA) control children, and 46 good readers of similar chronological-age (CA) divided into CA-HighIQ and a CA-LowIQ matched to DD group nonverbal IQ. Results In the age-matched groups no significant differences were found between DD and CA controls on any of the tasks relating to parietal function, although performance of the DD group and their nonverbal IQ scores was always lower. As expected, CA and RA group comparisons indicated purported parietal functioning improves with age. No difference in performance was seen on any of the parietally driven tasks between the DD and age-nonverbal IQ matched groups, whereas performance differentiated the DD group from the age-matched, higher nonverbal IQ group on several such tasks. An unexpected statistical difference in performance between lower reading age (DD and RA children) and all higher reading age (CA) children was seen on a test of chromatic sensitivity, whereas when high and low nonverbal IQ normal readers were compared performance was not different Conclusion The results indicate that performance on purported parietal functions improves with age

  3. Craniofacial morphology of Homo floresiensis: description, taxonomic affinities, and evolutionary implication.

    PubMed

    Kaifu, Yousuke; Baba, Hisao; Sutikna, Thomas; Morwood, Michael J; Kubo, Daisuke; Saptomo, E Wahyu; Jatmiko; Awe, Rokhus Due; Djubiantono, Tony

    2011-12-01

    This paper describes in detail the external morphology of LB1/1, the nearly complete and only known cranium of Homo floresiensis. Comparisons were made with a large sample of early groups of the genus Homo to assess primitive, derived, and unique craniofacial traits of LB1 and discuss its evolution. Principal cranial shape differences between H. floresiensis and Homo sapiens are also explored metrically. The LB1 specimen exhibits a marked reductive trend in its facial skeleton, which is comparable to the H. sapiens condition and is probably associated with reduced masticatory stresses. However, LB1 is craniometrically different from H. sapiens showing an extremely small overall cranial size, and the combination of a primitive low and anteriorly narrow vault shape, a relatively prognathic face, a rounded oval foramen that is greatly separated anteriorly from the carotid canal/jugular foramen, and a unique, tall orbital shape. Whereas the neurocranium of LB1 is as small as that of some Homo habilis specimens, it exhibits laterally expanded parietals, a weak suprameatal crest, a moderately flexed occipital, a marked facial reduction, and many other derived features that characterize post-habilis Homo. Other craniofacial characteristics of LB1 include, for example, a relatively narrow frontal squama with flattened right and left sides, a marked frontal keel, posteriorly divergent temporal lines, a posteriorly flexed anteromedial corner of the mandibular fossa, a bulbous lateral end of the supraorbital torus, and a forward protruding maxillary body with a distinct infraorbital sulcus. LB1 is most similar to early Javanese Homo erectus from Sangiran and Trinil in these and other aspects. We conclude that the craniofacial morphology of LB1 is consistent with the hypothesis that H. floresiensis evolved from early Javanese H. erectus with dramatic island dwarfism. However, further field discoveries of early hominin skeletal remains from Flores and detailed analyses of the

  4. Magnetoencephalography in Fronto-Parietal Opercular Epilepsy

    PubMed Central

    Kakisaka, Yosuke; Iwasaki, Masaki; Alexopoulos, Andreas V.; Enatsu, Rei; Jin, Kazutaka; Wang, Zhong I.; Mosher, John C.; Dubarry, Anne-Sophie; Nair, Dileep R.; Burgess, Richard C.

    2013-01-01

    Objective To clarify the clinical and neurophysiological profiles of fronto-parietal opercular epilepsy in which epileptic spikes are detected with magnetoencephalography (MEG) but not with scalp electroencephalography (EEG). Methods Four patients presented with epileptic spikes localized to the fronto-parietal opercular cortex, which were only appreciated following MEG recordings. Results In all cases, seizure semiology suggested early activation of the operculum and lower peri-rolandic cortex consistent with the somatotopic organization of this region, i.e. tingling sensation involving the throat and hemi-face or contralateral upper limb, and spasms of the neck and throat. MEG spikes were localized in the fronto-parietal operculum. Three of the four patients underwent invasive electrocorticography and/or stereo-EEG recordings, and spikes were confirmed to arise from the estimated area of MEG dipole localization. Two patients remained seizure-free for over 1 year after resection of the epileptogenic region; the other patient declined resective surgery due to proximity to the language cortex. Conclusion This study demonstrates the usefulness of MEG in localizing spikes arising from within the fronto-parietal opercular regions, and implies that MEG may provide localizing information in patients with symptoms suggestive of opercular epilepsy, even if scalp EEG recordings fail to disclose any epileptogenic activities. PMID:22658720

  5. A Legal Perspective of the Parietal Rule.

    ERIC Educational Resources Information Center

    Keller, Barbara Y.

    The legal issues involved in requiring students to live on campus, the parietal rule, are examined. It is suggested that the reason for establishing student housing and the rationale justifying the establishment of residence halls are important aspects of the question. Court cases are cited from 1899 that upheld the college's right to exemption…

  6. Enhancing duration processing with parietal brain stimulation.

    PubMed

    Dormal, Valérie; Javadi, Amir-Homayoun; Pesenti, Mauro; Walsh, Vincent; Cappelletti, Marinella

    2016-05-01

    Numerosity and duration are thought to share common magnitude-based mechanisms in brain regions including the right parietal and frontal cortices like the supplementary motor area, SMA. Numerosity and duration are, however, also different in several intrinsic features. For instance, in a quantification context, numerosity is known for being more automatically accessed than temporal events, and durations are by definition sequential whereas numerosity can be both sequential and simultaneous. Moreover, numerosity and duration processing diverge in terms of their neuronal correlates. Whether these observed neuronal specificities can be accounted for by differences in automaticity or presentation-mode is however not clear. To address this issue, we used brain stimulation (transcranial random noise stimulation, tRNS) to the right parietal cortex or the SMA combined with experimental stimuli differing in their level of automaticity (numerosity and duration) and presentation mode (sequential or simultaneous). Compared to a no stimulation group, performance changed in duration but not in numerosity categorisation following right parietal but not SMA stimulation. These results indicate that the right parietal cortex is critical for duration processing, and suggest that tRNS has a stronger effect on less automatic processes such as duration. PMID:27037043

  7. 75 FR 2150 - National Institute of Dental & Craniofacial Research; Notice of Closed Meetings

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  1. 76 FR 80953 - National Institute of Dental & Craniofacial Research; Notice of Meeting

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  1. 76 FR 79202 - National Institute Of Dental & Craniofacial Research; Notice of Closed Meeting

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  6. 77 FR 35990 - National Institute of Dental and Craniofacial Research; Notice of Closed Meeting

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  7. Craniofacial malformation among endemic cretins in Ecuador.

    PubMed

    Israel, H; Johnson, G F; Fierro-Benitez, R

    1983-01-01

    Nearly 6% of the inhabitants of two villages in Ecuador are deaf-mute and mentally retarded cretins. These communities are situated in the Andean highlands where environmental and dietary stores of iodine are extremely scarce. Endemic goiter and cretinism are widespread, and 10% of the cretins are additionally burdened with dwarfism and facial dysmorphia. Those with obvious involvement of the skeletal system were selected in order to study the extent of craniofacial malformation. Their appearance is characterized by midface hypoplasia, a broad nose with a depressed bridge, and a conspicuous circumoral prominence. Radiographic evaluation demonstrates a vertical displacement of the cranial base with an associated upward tilt of the midface. The flattened frontal bone, reduced frontal sinus pneumatization, and diminutive nasal bones collectively create a backward sloping face. The defect in the craniofacial skeleton of these Ecuadorian cretins is characteristic, and it readily sets them apart from the dysmorphism of those cretins with myxedema. PMID:6874895

  8. The concept of pattern in craniofacial growth.

    PubMed

    Moyers, R E; Bookstein, F L; Guire, K E

    1979-08-01

    1. There are semantic and associated problems with the word pattern in biology, particularly in orthodontics and facial growth. 2. Pattern, as we use the term, is invariance of relationships--"a set of constraints operating to preserve the integration of parts under varying conditions and through time." 3. Craniofacial pattern can be described and quantified by the identification of craniofacial constants, measures that are relatively invariant. 4. Growth is change and is best identified by studying those measures of size and shape that vary most sensitively through time over development stages. 5. The many traditional cephalometric measures that represent well neither pattern nor growth (mixed) are of less clinical utility than either pure pattern indices or growth indices. 6. The analytical and conceptual separation of pattern and growth seems useful in analysis of morphology, analysis of growth, prediction of growth, and clinical treatment planning. PMID:289292

  9. The Quadratojugal of Eryops studied by computed tomography and the morphological variability of foramina and canals in the quadratojugal of basal tetrapods.

    PubMed

    Čerňanský, Andrej; Witzmann, Florian; Klembara, Jozef; van Heteren, Anneke H

    2016-08-01

    With respect to its large size and abundance, Eryops is an important representative of Permo-Carboniferous basal tetrapods and one of the best-known large temnospondyl amphibians of this period. This taxon forms a significant component of the Early Permian tetrapod fauna of Texas and New Mexico and here we describe a new record of skull remains, the first one from Brushy Creek (30 km northeast of Seymour) in Texas (Petrolia Formation, Wichita Group; Lower Permian - lower Artinskian). Our material, found in 2015, consists of a left nasal, a jaw fragment (premaxilla or maxilla), left quadratojugal fragments, and a partial left mandible. We used computed tomography methods (micro-CT) for imaging both internal and external structures, for the first time, for Eryops. The quadratojugal presented here is exceptional compared to all known basal tetrapods in having four different internal foramina. CT data show that these foramina are interconnected by canals within the bone. This indicates that the morphology of the foramina and the course of the canals in the quadratojugal of basal tetrapods are more variable than hitherto thought. Anat Rec, 299:1073-1079, 2016. © 2016 Wiley Periodicals, Inc. PMID:27224928

  10. Imaging findings in craniofacial childhood rhabdomyosarcoma

    PubMed Central

    Merks, Johannes H. M.; Saeed, Peerooz; Balm, Alfons J. M.; Bras, Johannes; Pieters, Bradley R.; Adam, Judit A.; van Rijn, Rick R.

    2010-01-01

    Rhabdomyosarcoma (RMS) is the commonest paediatric soft-tissue sarcoma constituting 3–5% of all malignancies in childhood. RMS has a predilection for the head and neck area and tumours in this location account for 40% of all childhood RMS cases. In this review we address the clinical and imaging presentations of craniofacial RMS, discuss the most appropriate imaging techniques, present characteristic imaging features and offer an overview of differential diagnostic considerations. Post-treatment changes will be briefly addressed. PMID:20725831

  11. [Mechanisms of growth, development and disease of the craniofacial skeleton].

    PubMed

    Yamashiro, Takashi

    2016-01-01

    Craniofacial skeleton is derived from several pieces of bone, which hold the brain and house the sensory organ of vision, hearing, taste and smell. It also serves as an entrance of the digestive and respiratory tracts. Hence, craniofacial complex develops under sophisticated balance between the shape and the function. Disruption of such balance leads to various types of malformation and/or deformation of the face. This review focuses on the molecular aspects of growth and developments of the craniofacial structures and also on the genetic basis of congenital craniofacial malformations. PMID:26728542

  12. Venous air embolism during a craniofacial procedure.

    PubMed

    Phillips, R J; Mulliken, J B

    1988-07-01

    The possibility of venous air embolism exists whenever the craniofacial operative field is above the level of the heart. Craniotomy with the high-torque craniotome is hypothesized to have produced venous air embolism in the patient described in this report. The diagnosis of venous air embolism is determined by transesophageal Doppler probe, transesophageal echocardiogram or external echocardiogram, and end-tidal N2 and CO2 determinations. Treatment includes control of the air entry sites, aspiration of air from the right atrium via a catheter placed prior to operation, and discontinuing nitrous oxide. If these measures are unsuccessful, the operative field should be transposed below heart level and the procedure terminated. In the event of significant hemodynamic compromise, closed cardiac massage should be tried; if that fails, open cardiac massage and direct aspiration are necessary. The true incidence of venous air embolism in craniofacial operations may be much higher than previously suspected. We therefore recommend placement of appropriate monitoring equipment to detect intracardiac air in those major craniofacial procedures in which there is a potential for intravascular air ingress. PMID:3289061

  13. Craniofacial abnormalities among patients with Edwards Syndrome

    PubMed Central

    Rosa, Rafael Fabiano M.; Rosa, Rosana Cardoso M.; Lorenzen, Marina Boff; Zen, Paulo Ricardo G.; Graziadio, Carla; Paskulin, Giorgio Adriano

    2013-01-01

    OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%). Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%), abnormalities of the ear helix/dysplastic ears (70%), prominent occiput (52%), posteriorly rotated (46%) and low set ears (44%), and short palpebral fissures/blepharophimosis (46%). Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature. PMID:24142310

  14. Midline Anterior Craniofacial Approach for Malignancy

    PubMed Central

    Wellman, Bryan John; Traynelis, Vincent C.; McCulloch, Timothy M.; Funk, Gerry F.; Menezes, Arnold H.; Hoffman, Henry T.

    1999-01-01

    Thirty consecutive cases of midline anterior craniofacial procedures for the treatment of malignant neoplasms arising from the paranasal sinuses were reviewed. Posterior and lateral base craniofacial procedures were specifically excluded. This review compares the results, in terms of survival and major complication rate, between en bloc and piecemeal resections. The average follow-up was 4 years and 3 months. Sixteen patients were treated with an en bloc resection. The major complication rate was 31%. One-year survival rate was 94% for the en bloc resection group, 67% for patients with positive margins, and 100% for patients with clear margins. Three-year survival for en bloc resection dropped to 56, 33, and 67%, respectively. Fourteen patients were treated with piecemeal resections. The major complication rate was 21%. One-year survival rate was 83% for the piecemeal resection group, 60% for patients with positive margins, and 100% for patients with clear margins. Three-year survival dropped to 70, 60, and 80%, respectively. Although it is considered desirable to obtain an en bloc resection in some craniofacial procedures, we conclude that a piecemeal resection is a viable alternative in situations where an en bloc procedure is difficult to obtain safely. ImagesFigure 1p43-bFigure 2p44-b PMID:17171080

  15. Parathyroid Hormone Applications in the Craniofacial Skeleton

    PubMed Central

    Chan, H.L.; McCauley, L.K.

    2013-01-01

    Parathyroid hormone (PTH) is known for its ability to ‘build’ bone, with research in this area centered on its use as an osteoporosis therapeutic. Recent interest has developed regarding its potential for regenerative applications such as fracture healing and osseous defects of the oral cavity. Many years of investigation using murine gene-targeted models substantiate a role for signaling at the PTH/PTH-related protein (PTHrP) receptor (PPR) in intramembranous bone formation in the craniofacial region as well as in tooth development. Pre-clinical studies clearly support a positive role of intermittent PTH administration in craniofacial bones and in fracture healing and implant integration. A few human clinical studies have shown favorable responses with teriparatide (the biologically active fragment of PTH) administration. Favorable outcomes have emerged with teriparatide administration in patients with osteonecrosis of the jaw (ONJ). New delivery strategies are in development to optimize targeted application of PTH and to help maximize local approaches. The promising host-modulating potential of PTH requires more information to further its effectiveness for craniofacial regeneration and osseous wound-healing, including a better delineation of cellular targets, temporal effects of PTH action, and improved approaches for local/targeted delivery of PTH. PMID:23071071

  16. Atrophy of the Parietal Lobe in Preclinical Dementia

    ERIC Educational Resources Information Center

    Jacobs, Heidi I. L.; Van Boxtel, Martin P. J.; Uylings, Harry B. M.; Gronenschild, Ed H. B. M.; Verhey, Frans R.; Jolles, Jelle

    2011-01-01

    Cortical grey matter atrophy patterns have been reported in healthy ageing and Alzheimer disease (AD), but less consistently in the parietal regions of the brain. We investigated cortical grey matter volume patterns in parietal areas. The grey matter of the somatosensory cortex, superior and inferior parietal lobule was measured in 75 older adults…

  17. Social Distance Evaluation in Human Parietal Cortex

    PubMed Central

    Yamakawa, Yoshinori; Kanai, Ryota; Matsumura, Michikazu; Naito, Eiichi

    2009-01-01

    Across cultures, social relationships are often thought of, described, and acted out in terms of physical space (e.g. “close friends” “high lord”). Does this cognitive mapping of social concepts arise from shared brain resources for processing social and physical relationships? Using fMRI, we found that the tasks of evaluating social compatibility and of evaluating physical distances engage a common brain substrate in the parietal cortex. The present study shows the possibility of an analytic brain mechanism to process and represent complex networks of social relationships. Given parietal cortex's known role in constructing egocentric maps of physical space, our present findings may help to explain the linguistic, psychological and behavioural links between social and physical space. PMID:19204791

  18. The left parietal cortex and motor attention.

    PubMed

    Rushworth, M F; Nixon, P D; Renowden, S; Wade, D T; Passingham, R E

    1997-09-01

    The posterior parietal cortex, particularly in the right hemisphere, is crucially important for covert orienting; lesions impair the ability to disengage the focus of covert orienting attention from one potential saccade target to another (Posner, M. I. et al., Journal of Neuroscience, 1984, 4, 1863-1874). We have developed a task where precues allow subjects to covertly prepare subsequent cued hand movements, as opposed to an orienting or eye movement. We refer to this process as motor attention to distinguish it from orienting attention. Nine subjects with lesions that included the left parietal cortex and nine subjects with lesions including the right parietal cortex were compared with control subjects on the task. The left hemisphere subjects showed the same ability as controls to engage attention to a movement when they were forewarned by a valid precue. The left hemisphere subjects, however, were impaired in their ability to disengage the focus of motor attention from one movement to another when the precue was incorrect. The results support the existence of two distinct attentional systems allied to the orienting and limb motor systems. Damage to either system causes analogous problems in disengaging from one orienting/movement target to another. The left parietal cortex, particularly the supramarginal gyrus, is associated with motor attention. All the left hemisphere subjects had ideomotor apraxia and had particular problems performing sequences of movements. We suggest that the well documented left hemisphere and apraxic impairment in movement sequencing is the consequence of a difficulty in shifting the focus of motor attention from one movement in a sequence to the next. PMID:9364496

  19. Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology.

    PubMed

    Palmer, Kristina; Fairfield, Heather; Borgeia, Suhaib; Curtain, Michelle; Hassan, Mohamed G; Dionne, Louise; Yong Karst, Son; Coombs, Harold; Bronson, Roderick T; Reinholdt, Laura G; Bergstrom, David E; Donahue, Leah Rae; Cox, Timothy C; Murray, Stephen A

    2016-07-15

    Craniofacial abnormalities are among the most common features of human genetic syndromes and disorders. The etiology of these conditions is often complex, influenced by both genetic context and the environment. Frequently, craniofacial abnormalities present as part of a syndrome with clear comorbid phenotypes, providing additional insight into mechanisms of the causative gene or pathway. The mouse has been a key tool in our understanding of the genetic mechanisms of craniofacial development and disease, and can provide excellent models for human craniofacial abnormalities. While powerful genetic engineering tools in the mouse have contributed significantly our understanding of craniofacial development and dysmorphology, forward genetic approaches provide an unbiased means to identify new genes and pathways. Moreover, spontaneous mutations can occur on any number of genetic backgrounds, potentially revealing critical genes that require a specific genetic context. Here we report discovery and phenotyping of 43 craniofacial mouse models, derived primarily from a screen for spontaneous mutations in production colonies at the Jackson Laboratory. We identify the causative gene for 33 lines, including novel genes in pathways not previously connected to craniofacial development, and novel alleles of known genes that present with unique phenotypes. Together with our detailed characterization, this work provides a valuable gene discovery resource for the craniofacial community, and a rich source of mouse models for further investigation. PMID:26234751

  20. 76 FR 30373 - National Institute of Dental & Craniofacial Research; Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-05-25

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research... unwarranted invasion of personal privacy. Name of Committee: National Institute of Dental and Craniofacial...: Marilyn Moore-Hoon, PhD, Scientific Review Officer, Scientific Review Branch, National Institute of...

  1. OCT imaging of craniofacial anatomy in xenopus embryos (Conference Presentation)

    NASA Astrophysics Data System (ADS)

    Deniz, Engin; Jonas, Stephan M.; Griffin, John; Hooper, Michael C.; Choma, Michael A.; Khokha, Mustafa K.

    2016-03-01

    The etiology of craniofacial defects is incompletely understood. The ability to obtain large amounts of gene sequence data from families affected by craniofacial defects is opening up new ways to understand molecular genetic etiological factors. One important link between gene sequence data and clinical relevance is biological research into candidate genes and molecular pathways. We present our recent research using OCT as a nondestructive phenotyping modality of craniofacial morphology in Xenopus embryos, an important animal model for biological research in gene and pathway discovery. We define 2D and 3D scanning protocols for a standardized approach to craniofacial imaging in Xenopus embryos. We define standard views and planar reconstructions for visualizing normal anatomy and landmarks. We compare these views and reconstructions to traditional histopathology using alcian blue staining. In addition to being 3D, nondestructive, and having much faster throughout, OCT can identify craniofacial features that are lost during traditional histopathological preparation. We also identify quantitative morphometric parameters to define normative craniofacial anatomy. We also note that craniofacial and cardiac defects are not infrequently present in the same patient (e.g velocardiofacial syndrome). Given that OCT excels at certain aspects of cardiac imaging in Xenopus embryos, our work highlights the potential of using OCT and Xenopus to study molecular genetic factors that impact both cardiac and craniofacial development.

  2. Facing up to the Challenges of Advancing Craniofacial Research

    PubMed Central

    Trainor, Paul A.; Richtsmeier, Joan T.

    2015-01-01

    Craniofacial anomalies are among the most common human birth defects and have considerable functional, aesthetic, and social consequences. The early developmental origin as well as the anatomical complexity of the head and face render these tissues prone to genetic and environmental insult. The establishment of craniofacial clinics offering comprehensive care for craniofacial patients at a single site together with international research networks focused on the origins and treatment of craniofacial disorders has led to tremendous advances in our understanding of the etiology and pathogenesis of congenital craniofacial anomalies. However, the genetic, environmental, and developmental sources of many craniofacial disorders remain unknown. To overcome this problem and further advance craniofacial research, we must recognize current challenges in the field and establish priority areas for study. We still need (i) a deeper understanding of variation during normal development and within the context of any disorder, (ii) improved genotyping and phenotyping and understanding of the impact of epigenetics, (iii) continued development of animal models and functional analyses of genes and variants, and (iv) integration of patient derived cells and tissues together with 3D printing and quantitative assessment of surgical outcomes for improved practice. Only with fundamental advances in each of these areas will we be able to meet the challenge of translating potential therapeutic and preventative approaches into clinical solutions and reduce the financial and emotional burden of craniofacial anomalies. PMID:25820983

  3. Craniofacial dysmorphology: Studies in honor of Samuel Pruzansky

    SciTech Connect

    Cohen, M.M.; Rollnick, B.R.

    1985-01-01

    This book contains 31 chapters. Some of the chapter titles are: Regional Specification of Cell-Specific Gene Expression During Craniofacial Development; Timing Cleft Palate Closure - Age Should Not Be the Sole Determinant; Excess of Parental Non-Righthandedness in Children with Right-Sided Cleft Lip: A Preliminary Report; and The Application of Roentgencephalometry to the Study of Craniofacial Anomalies.

  4. Towards an understanding of parietal mnemonic processes: some conceptual guideposts

    PubMed Central

    Levy, Daniel A.

    2012-01-01

    The posterior parietal lobes have been implicated in a range of episodic memory retrieval tasks, but the nature of parietal contributions to remembering remains unclear. In an attempt to identify fruitful avenues of further research, several heuristic questions about parietal mnemonic activations are considered in light of recent empirical findings: Do such parietal activations reflect memory processes, or their contents? Do they precede, follow, or co-occur with retrieval? What can we learn from their pattern of lateralization? Do they index access to episodic representations, or the feeling of remembering? Are parietal activations graded by memory strength, quantity of retrieved information, or the type of retrieval? How do memory-related activations map onto functional parcellation of parietal lobes suggested by other cognitive phenomena? Consideration of these questions can promote understanding of the relationship between parietal mnemonic effects and perceptual, attentional, and action-oriented cognitive processes. PMID:22783175

  5. Craniofacial Reconstruction with Induced Pluripotent Stem Cells

    PubMed Central

    Wan, Derrick C.; Wong, Victor W.; Longaker, Michael T.

    2012-01-01

    Induced pluripotent stem cells (iPSCs) hold enormous promise for the treatment of complex tissue defects throughout the entire body. The ability for iPSCs to form all tissue types makes them an ideal autogenous cellular building block for tissue engineering strategies designed to replace any combination of skin, muscle, nerve, and bone deficiencies in the craniofacial region. Several obstacles to their use remain, however, chief among which include concerns over insertional mutagenesis and tumorigenicity. As studies continue to develop strategies minimizing these risks, the potential for development of patient-specific regenerative therapies has become tantalizingly close. PMID:22627398

  6. Transcriptional Landscape of Glomerular Parietal Epithelial Cells

    PubMed Central

    Gharib, Sina A.; Pippin, Jeffrey W.; Ohse, Takamoto; Pickering, Scott G.; Krofft, Ronald D.; Shankland, Stuart J.

    2014-01-01

    Very little is known about the function of glomerular parietal epithelial cells (PECs). In this study, we performed genome-wide expression analysis on PEC-enriched capsulated vs. PEC-deprived decapsulated rat glomeruli to determine the transcriptional state of PECs under normal conditions. We identified hundreds of differentially expressed genes that mapped to distinct biologic modules including development, tight junction, ion transport, and metabolic processes. Since developmental programs were highly enriched in PECs, we characterized several of their candidate members at the protein level. Collectively, our findings confirm that PECs are multifaceted cells and help define their diverse functional repertoire. PMID:25127402

  7. Hedgehog receptor function during craniofacial development.

    PubMed

    Xavier, Guilherme M; Seppala, Maisa; Barrell, William; Birjandi, Anahid A; Geoghegan, Finn; Cobourne, Martyn T

    2016-07-15

    The Hedgehog signalling pathway plays a fundamental role in orchestrating normal craniofacial development in vertebrates. In particular, Sonic hedgehog (Shh) is produced in three key domains during the early formation of the head; neuroectoderm of the ventral forebrain, facial ectoderm and the pharyngeal endoderm; with signal transduction evident in both ectodermal and mesenchymal tissue compartments. Shh signalling from the prechordal plate and ventral midline of the diencephalon is required for appropriate division of the eyefield and forebrain, with mutation in a number of pathway components associated with Holoprosencephaly, a clinically heterogeneous developmental defect characterized by a failure of the early forebrain vesicle to divide into distinct halves. In addition, signalling from the pharyngeal endoderm and facial ectoderm plays an essential role during development of the face, influencing cranial neural crest cells that migrate into the early facial processes. In recent years, the complexity of Shh signalling has been highlighted by the identification of multiple novel proteins that are involved in regulating both the release and reception of this protein. Here, we review the contributions of Shh signalling during early craniofacial development, focusing on Hedgehog receptor function and describing the consequences of disruption for inherited anomalies of this region in both mouse models and human populations. PMID:26875496

  8. Osmotic barrier of the parietal peritoneum.

    PubMed

    Flessner, M F

    1994-11-01

    Fluid movement into the peritoneal cavity results after instillation of a hypertonic solution. Some investigators have assumed that the peritoneum is a significant barrier to small solutes and have predicted that fluid would be drawn by an osmotic gradient into the cavity from the tissue surrounding the peritoneal cavity, resulting in tissue hydrostatic pressures well below atmospheric pressure. Contrary to this, we have previously shown that protein and fluid cross the peritoneum and enter the tissue at the same rate during either isotonic or hypertonic dialysis. To investigate the nature of the osmotic barrier of the peritoneum, the hydrostatic pressure profiles were measured in the abdominal wall of the rat during conditions of either isotonicity or hypertonicity in the peritoneal cavity and constant intraperitoneal hydrostatic pressure (Pip). Measurements were made with a micropipette mounted on a micromanipulator and connected to a servo-null pressure measurement system. No interstitial pressures below atmospheric pressure were observed with either type of solution in the peritoneal cavity. For the three Pip values tested, there were few significant differences between the corresponding pressure profiles of isotonic or hypertonic solutions. It is concluded that the parietal peritoneum is not a functional barrier to small solutes, which are often used to raise the osmolality of intraperitoneal solutions. This finding also implies that the tissue interstitium underlying the parietal peritoneum is not the source of water flow into the cavity, which is observed during hypertonic dialysis. PMID:7977791

  9. Alzheimer's disease: the downside of a highly evolved parietal lobe?

    PubMed

    Bruner, Emiliano; Jacobs, Heidi I L

    2013-01-01

    Clinical grade Alzheimer's disease (AD) is only described in humans. Recent imaging studies in early AD patients showed that the parietal areas display the most prominent metabolic impairments. So far, neuroimaging studies have not been able to explain why the medial parietal regions possess this hub characteristic in AD. Paleoneurological and neuroanatomical studies suggest that our species, Homo sapiens, has a unique and derived organization of the parietal areas, which are involved in higher cognitive functions. Combining evidence from neuroimaging, paleontology, and comparative anatomy, we suggest that the vulnerability of the parietal lobe to neurodegenerative processes may be associated with the origin of our species. The species-specific parietal morphology in modern humans largely influenced the brain spatial organization, and it involved changes in vascularization and energy management, which may underlie the sensitivity of these areas to metabolic impairment. Metabolic constraints and anatomical evolutionary changes in the medial parietal regions of modern humans may be important in early AD onset. Taking into account the species-specific adaptations of the modern human parietal areas and their association with AD, we hypothesize that AD can be the evolutionary drawback of the specialized structure of our parietal lobes. The cognitive advantage is associated with increased sensitivity to neurodegenerative processes which, being limited to the post-reproductive period, have a minor effect on the overall genetic fitness. The changes of energy requirements associated with form and size variations at the parietal areas may support the hypothesis of AD as a metabolic syndrome. PMID:23435412

  10. Atrophy of the parietal lobe in preclinical dementia.

    PubMed

    Jacobs, Heidi I L; Van Boxtel, Martin P J; Uylings, Harry B M; Gronenschild, Ed H B M; Verhey, Frans R; Jolles, Jelle

    2011-03-01

    Cortical grey matter atrophy patterns have been reported in healthy ageing and Alzheimer disease (AD), but less consistently in the parietal regions of the brain. We investigated cortical grey matter volume patterns in parietal areas. The grey matter of the somatosensory cortex, superior and inferior parietal lobule was measured in 75 older adults (38 cognitively stable and 37 individuals with cognitive decline after 3 years). Dementia screening 6 years after scanning resulted in nine AD cases from the cognitively stable (n=3) and cognitive decline group (n=6), who were assigned to a third group, the preclinical AD group. When regional differences in cortical volume in the parietal lobe areas were compared between groups, significant differences were found between either the cognitive decline or stable group on the one hand and preclinical AD individuals on the other hand in the inferior parietal lobule. Group membership was best predicted by the grey matter volume of the inferior parietal lobule, compared to the other parietal lobe areas. The parietal lobe was characterised by a differential atrophy pattern based on cognitive status, which is in agreement with the 'last-developed-first-atrophied' principle. Future studies should investigate the surplus value of the inferior parietal lobe as a potential marker for the diagnosis of AD compared to other brain regions, such as the medial temporal lobe and the prefrontal lobe. PMID:21130554

  11. Pacific Craniofacial Team and Cleft Prevention Program.

    PubMed

    Tolarová, Marie M; Poulton, Donald; Aubert, Maryse M; Oh, HeeSoo; Ellerhorst, Thomas; Mosby, Terezie; Tolar, Miroslav; Boyd, Robert L

    2006-10-01

    There is no doubt modern genetics have greatly influenced our professional and personal lives during the last decade. Uncovering genetic causes of many medical and dental pathologies is helping to narrow the diagnosis and select a treatment plan that would provide the best outcome. Importantly, having an understanding of multifactorial etiology helps direct our attention toward prevention. We now understand much better our own health problems. In some cases, we can modify our lifestyle and diet in order to prevent "environmental factors" from triggering the mutated genes inherited from our parents. Good examples are diabetes and cardiovascular diseases. If we realize we might have inherited genes for cardiovascular problems from several ancestors who had heart attacks, we already know that these genes will make us only "susceptible" for disease. Those who exercise, watch one's weight, diet, and carefully monitor one's lifestyle will very likely--though possessing "susceptibility genes"--stay healthier and, maybe, will never experience any cardiovascular problems. In principle, the same applies for craniofacial anomalies, especially for nonsyndromic cleft lip and palate. One needs to understand genetic and environmental causes of nonsyndromic orofacial clefts in order to prevent them. With all this in mind, the Pacific Craniofacial Team and Cleft Prevention Program have been established at the Department of Orthodontics, University of the Pacific Arthur A. Dugoni School of Dentistry in San Francisco. A partnership with Rotaplast International, Inc., has made it possible for the faculty, orthodontic residents, and students to participate in 27 multidisciplinary cleft medical missions in underdeveloped and developing countries by donating professional and educational services, and, last but not least, by collecting valuable data and specimens to further research. A significant number of research studies, including 15 master of science theses, have been accomplished in

  12. The pathology of parietal pleural plaques

    PubMed Central

    Roberts, G. Hefin

    1971-01-01

    The incidence, morbid anatomy, histology, and relationship of hyaline pleural plaques to exposure to asbestos has been studied. Plaques were found in 12·3% of 334 hospital necropsies (in an urban population in Glasgow, 41 cases). In 85·3% (35 cases) asbestos bodies were found in the lungs. There is evidence of a dose-response relationship between the number of asbestos bodies found in the lungs and the presence of pleural plaques. The selective distribution of plaques within the pleural cavities suggests that mechanical factors play a part in their localization. Histological examination contributed little to understanding the mechanism of plaque formation; that asbestos bodies have been detected in only a few cases suggest that their presence in the parietal pleura is not essential to plaque formation. The suggested mechanisms of plaque formation are discussed. Images PMID:5556121

  13. Reforming craniofacial orthodontics via stem cells

    PubMed Central

    Mohanty, Pritam; Prasad, N.K.K.; Sahoo, Nivedita; Kumar, Gunjan; Mohanty, Debapreeti; Sah, Sushila

    2015-01-01

    Stem cells are the most interesting cells in cell biology. They have the potential to evolve as one of the most powerful technologies in the future. The future refers to an age where it will be used extensively in various fields of medical and dental sciences. Researchers have discovered a number of sources from which stem cells can be derived. Craniofacial problems are very common and occur at all ages. Stem cells can be used therapeutically in almost every field of health science. In fact, many procedures will be reformed after stem cells come into play. This article is an insight into the review of the current researches being carried out on stem cells and its use in the field of orthodontics, which is a specialized branch of dentistry. Although the future is uncertain, there is a great possibility that stem cells will be used extensively in almost all major procedures of orthodontics. PMID:25767761

  14. Application of Digital Anthropometry for Craniofacial Assessment

    PubMed Central

    Jayaratne, Yasas S. N.; Zwahlen, Roger A.

    2014-01-01

    Craniofacial anthropometry is an objective technique based on a series of measurements and proportions, which facilitate the characterization of phenotypic variation and quantification of dysmorphology. With the introduction of stereophotography, it is possible to acquire a lifelike three-dimensional (3D) image of the face with natural color and texture. Most of the traditional anthropometric landmarks can be identified on these 3D photographs using specialized software. Therefore, it has become possible to compute new digital measurements, which were not feasible with traditional instruments. The term “digital anthropometry” has been used by researchers based on such systems to separate their methods from conventional manual measurements. Anthropometry has been traditionally used as a research tool. With the advent of digital anthropometry, this technique can be employed in several disciplines as a noninvasive tool for quantifying facial morphology. The aim of this review is to provide a broad overview of digital anthropometry and discuss its clinical applications. PMID:25050146

  15. Computed tomography assessment of peripubertal craniofacial morphology in a sheep model of binge alcohol drinking in the first trimester.

    PubMed

    Birch, Sharla M; Lenox, Mark W; Kornegay, Joe N; Shen, Li; Ai, Huisi; Ren, Xiaowei; Goodlett, Charles R; Cudd, Tim A; Washburn, Shannon E

    2015-11-01

    Identification of facial dysmorphology is essential for the diagnosis of fetal alcohol syndrome (FAS); however, most children with fetal alcohol spectrum disorders (FASD) do not meet the dysmorphology criterion. Additional objective indicators are needed to help identify the broader spectrum of children affected by prenatal alcohol exposure. Computed tomography (CT) was used in a sheep model of prenatal binge alcohol exposure to test the hypothesis that quantitative measures of craniofacial bone volumes and linear distances could identify alcohol-exposed lambs. Pregnant sheep were randomly assigned to four groups: heavy binge alcohol, 2.5 g/kg/day (HBA); binge alcohol, 1.75 g/kg/day (BA); saline control (SC); and normal control (NC). Intravenous alcohol (BA; HBA) or saline (SC) infusions were given three consecutive days per week from gestation day 4-41, and a CT scan was performed on postnatal day 182. The volumes of eight skull bones, cranial circumference, and 19 linear measures of the face and skull were compared among treatment groups. Lambs from both alcohol groups showed significant reduction in seven of the eight skull bones and total skull bone volume, as well as cranial circumference. Alcohol exposure also decreased four of the 19 craniofacial measures. Discriminant analysis showed that alcohol-exposed and control lambs could be classified with high accuracy based on total skull bone volume, frontal, parietal, or mandibular bone volumes, cranial circumference, or interorbital distance. Total skull volume was significantly more sensitive than cranial circumference in identifying the alcohol-exposed lambs when alcohol-exposed lambs were classified using the typical FAS diagnostic cutoff of ≤10th percentile. This first demonstration of the usefulness of CT-derived craniofacial measures in a sheep model of FASD following binge-like alcohol exposure during the first trimester suggests that volumetric measurement of cranial bones may be a novel biomarker

  16. The eye as an organizer of craniofacial development

    PubMed Central

    Kish, Phillip E.; Bohnsack, Brenda L; Gallina, Donika D.; Kasprick, Daniel S.

    2013-01-01

    The formation and invagination of the optic stalk coincides with the migration of cranial neural crest (CNC) cells, and a growing body of data reveals that the optic stalk and CNC cells communicate to lay the foundations for periocular and craniofacial development. Following migration, the interaction between the developing eye and surrounding periocular mesenchyme (POM) continues, leading to induction of transcriptional regulatory cascades that regulate craniofacial morphogenesis. Studies in chick, mice and zebrafish have revealed a remarkable level of genetic and mechanistic conservation, affirming the power of each animal model to shed light on the broader morphogenic process. This review will focus on the role of the developing eye in orchestrating craniofacial morphogenesis, utilizing morphogenic gradients, paracrine signaling, and transcriptional regulatory cascades to establish an evolutionarily-conserved facial architecture. We propose that in addition to the forebrain, the eye functions during early craniofacial morphogenesis as a key organizer of facial development, independent of its role in vision. PMID:21309065

  17. Impact of Stem Cells in Craniofacial Regenerative Medicine

    PubMed Central

    Sanchez-Lara, Pedro A.; Zhao, Hu; Bajpai, Ruchi; Abdelhamid, Alaa I.; Warburton, David

    2012-01-01

    Interest regarding stem cell based therapies for the treatment of congenital or acquired craniofacial deformities is rapidly growing. Craniofacial problems such as periodontal disease, cleft lip and palate, ear microtia, craniofacial microsomia, and head and neck cancers are not only common but also some of the most burdensome surgical problems worldwide. Treatments often require a multi-staged multidisciplinary team approach. Current surgical therapies attempt to reduce the morbidity and social/emotional impact, yet outcomes can still be unpredictable and unsatisfactory. The concept of harvesting stem cells followed by expansion, differentiation, seeding onto a scaffold and re-transplanting them is likely to become a clinical reality. In this review, we will summarize the translational applications of stem cell therapy in tissue regeneration for craniofacial defects. PMID:22737127

  18. Vertical Craniofacial Morphology and its Relation to Temporomandibular Disorders

    PubMed Central

    Bavia, Paula Furlan

    2016-01-01

    ABSTRACT Objectives This study investigated the association between craniofacial morphology and temporomandibular disorders in adults. The influence of different craniofacial morphologies on painful temporomandibular disorders was also evaluated. Material and Methods A total of 200 subjects were selected, including 100 with temporomandibular disorders (TMD) and 100 without TMD (control), diagnosed by research diagnostic criteria for temporomandibular disorders. All subjects were submitted to lateral cephalometric radiographs, and classified as brachyfacial, mesofacial, or dolichofacial by Ricketts’ analysis. Data were analysed by Tukey-Kramer and Chi-square tests. Results No association between craniofacial morphology and TMD was found (P = 0.6622). However, brachyfacial morphology influences the presence of painful TMD (P = 0.0077). Conclusions Craniofacial morphology is not related to temporomandibular disorders in general. PMID:27489610

  19. Adult psychological functioning of individuals born with craniofacial anomalies.

    PubMed

    Sarwer, D B; Bartlett, S P; Whitaker, L A; Paige, K T; Pertschuk, M J; Wadden, T A

    1999-02-01

    This study represents an initial investigation into the adult psychological functioning of individuals born with craniofacial disfigurement. A total of 24 men and women born with a craniofacial anomaly completed paper and pencil measures of body image dissatisfaction, self-esteem, quality of life, and experiences of discrimination. An age- and gender-matched control group of 24 non-facially disfigured adults also completed the measures. As expected, craniofacially disfigured adults reported greater dissatisfaction with their facial appearance than did the control group. Craniofacially disfigured adults also reported significantly lower levels of self-esteem and quality of life. Dissatisfaction with facial appearance, self-esteem, and quality of life were related to self-ratings of physical attractiveness. More than one-third of craniofacially disfigured adults (38 percent) reported experiences of discrimination in employment or social settings. Among disfigured adults, psychological functioning was not related to number of surgeries, although the degree of residual facial deformity was related to increased dissatisfaction with facial appearance and greater experiences of discrimination. Results suggest that adults who were born with craniofacial disfigurement, as compared with non-facially disfigured adults, experience greater dissatisfaction with facial appearance and lower self-esteem and quality of life; however, these experiences do not seem to be universal. PMID:9950526

  20. The Aponeurotic Tension Model of Craniofacial Growth in Man

    PubMed Central

    Standerwick, Richard G; Roberts, W. Eugene

    2009-01-01

    Craniofacial growth is a scientific crossroad for the fundamental mechanisms of musculoskeletal physiology. Better understanding of growth and development will provide new insights into repair, regeneration and adaptation to applied loads. Traditional craniofacial growth concepts are insufficient to explain the dynamics of airway/vocal tract development, cranial rotation, basicranial flexion and the role of the cranial base in expression of facial proportions. A testable hypothesis is needed to explore the physiological pressure propelling midface growth and the role of neural factors in expression of musculoskeletal adaptation after the cessation of anterior cranial base growth. A novel model for craniofacial growth is proposed for: 1. brain growth and craniofacial adaptation up to the age of 20; 2. explaining growth force vectors; 3. defining the role of muscle plasticity as a conduit for craniofacial growth forces; and 4. describing the effect of cranial rotation in the expression of facial form. Growth of the viscerocranium is believed to be influenced by the superficial musculoaponeurotic systems (SMAS) of the head through residual tension in the occipitofrontalis muscle as a result of cephalad brain growth and cranial rotation. The coordinated effects of the regional SMAS develop a craniofacial musculoaponeurotic system (CFMAS), which is believed to affect maxillary and mandibular development. PMID:19572022

  1. Antimicrobial surfaces for craniofacial implants: state of the art

    PubMed Central

    Actis, Lisa; Gaviria, Laura; Guda, Teja

    2013-01-01

    In an attempt to regain function and aesthetics in the craniofacial region, different biomaterials, including titanium, hydroxyapatite, biodegradable polymers and composites, have been widely used as a result of the loss of craniofacial bone. Although these materials presented favorable success rates, osseointegration and antibacterial properties are often hard to achieve. Although bone-implant interactions are highly dependent on the implant's surface characteristics, infections following traumatic craniofacial injuries are common. As such, poor osseointegration and infections are two of the many causes of implant failure. Further, as increasingly complex dental repairs are attempted, the likelihood of infection in these implants has also been on the rise. For these reasons, the treatment of craniofacial bone defects and dental repairs for long-term success remains a challenge. Various approaches to reduce the rate of infection and improve osseointegration have been investigated. Furthermore, recent and planned tissue engineering developments are aimed at improving the implants' physical and biological properties by improving their surfaces in order to develop craniofacial bone substitutes that will restore, maintain and improve tissue function. In this review, the commonly used biomaterials for craniofacial bone restoration and dental repair, as well as surface modification techniques, antibacterial surfaces and coatings are discussed. PMID:24471018

  2. The Contribution of the Parietal Lobes to Speaking and Writing

    PubMed Central

    Wise, Richard J. S.

    2010-01-01

    The left parietal lobe has been proposed as a major language area. However, parietal cortical function is more usually considered in terms of the control of actions, contributing both to attention and cross-modal integration of external and reafferent sensory cues. We used positron emission tomography to study normal subjects while they overtly generated narratives, both spoken and written. The purpose was to identify the parietal contribution to the modality-specific sensorimotor control of communication, separate from amodal linguistic and memory processes involved in generating a narrative. The majority of left and right parietal activity was associated with the execution of writing under visual and somatosensory control irrespective of whether the output was a narrative or repetitive reproduction of a single grapheme. In contrast, action-related parietal activity during speech production was confined to primary somatosensory cortex. The only parietal area with a pattern of activity compatible with an amodal central role in communication was the ventral part of the left angular gyrus (AG). The results of this study indicate that the cognitive processing of language within the parietal lobe is confined to the AG and that the major contribution of parietal cortex to communication is in the sensorimotor control of writing. PMID:19531538

  3. Parcellation of left parietal tool representations by functional connectivity

    PubMed Central

    Garcea, Frank E.; Z. Mahon, Bradford

    2014-01-01

    Manipulating a tool according to its function requires the integration of visual, conceptual, and motor information, a process subserved in part by left parietal cortex. How these different types of information are integrated and how their integration is reflected in neural responses in the parietal lobule remains an open question. Here, participants viewed images of tools and animals during functional magnetic resonance imaging (fMRI). K-means clustering over time series data was used to parcellate left parietal cortex into subregions based on functional connectivity to a whole brain network of regions involved in tool processing. One cluster, in the inferior parietal cortex, expressed privileged functional connectivity to the left ventral premotor cortex. A second cluster, in the vicinity of the anterior intraparietal sulcus, expressed privileged functional connectivity with the left medial fusiform gyrus. A third cluster in the superior parietal lobe expressed privileged functional connectivity with dorsal occipital cortex. Control analyses using Monte Carlo style permutation tests demonstrated that the clustering solutions were outside the range of what would be observed based on chance ‘lumpiness’ in random data, or mere anatomical proximity. Finally, hierarchical clustering analyses were used to formally relate the resulting parcellation scheme of left parietal tool representations to previous work that has parcellated the left parietal lobule on purely anatomical grounds. These findings demonstrate significant heterogeneity in the functional organization of manipulable object representations in left parietal cortex, and outline a framework that generates novel predictions about the causes of some forms of upper limb apraxia. PMID:24892224

  4. Mandatory Housing Requirements: The Constitutionality of Parietal Rules

    ERIC Educational Resources Information Center

    Iowa Law Review, 1975

    1975-01-01

    Analyzes the validity of parietal rules under both the due process and equal protection clauses of the Fourteenth Amendment. Models of substantive due process and equal protection are developed and applied to the various types of parietal rules that have been implemented at universities throughout the nation. (Author/JT)

  5. The Role of Human Parietal Cortex in Attention Networks

    ERIC Educational Resources Information Center

    Han, Shihui; Jiang, Yi; Gu, Hua; Rao, Hengyi; Mao, Lihua; Cui, Yong; Zhai, Renyou

    2004-01-01

    The parietal cortex has been proposed as part of the neural network for guiding spatial attention. However, it is unclear to what degree the parietal cortex contributes to the attentional modulations of activities of the visual cortex and the engagement of the frontal cortex in the attention network. We recorded behavioural performance and…

  6. The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical data.

    PubMed

    Van Otterloo, Eric; Williams, Trevor; Artinger, Kristin Bruk

    2016-07-15

    The craniofacial skeletal structures that comprise the human head develop from multiple tissues that converge to form the bones and cartilage of the face. Because of their complex development and morphogenesis, many human birth defects arise due to disruptions in these cellular populations. Thus, determining how these structures normally develop is vital if we are to gain a deeper understanding of craniofacial birth defects and devise treatment and prevention options. In this review, we will focus on how animal model systems have been used historically and in an ongoing context to enhance our understanding of human craniofacial development. We do this by first highlighting "animal to man" approaches; that is, how animal models are being utilized to understand fundamental mechanisms of craniofacial development. We discuss emerging technologies, including high throughput sequencing and genome editing, and new animal repository resources, and how their application can revolutionize the future of animal models in craniofacial research. Secondly, we highlight "man to animal" approaches, including the current use of animal models to test the function of candidate human disease variants. Specifically, we outline a common workflow deployed after discovery of a potentially disease causing variant based on a select set of recent examples in which human mutations are investigated in vivo using animal models. Collectively, these topics will provide a pipeline for the use of animal models in understanding human craniofacial development and disease for clinical geneticist and basic researchers alike. PMID:26808208

  7. Uncertain relational reasoning in the parietal cortex.

    PubMed

    Ragni, Marco; Franzmeier, Imke; Maier, Simon; Knauff, Markus

    2016-04-01

    The psychology of reasoning is currently transitioning from the study of deductive inferences under certainty to inferences that have degrees of uncertainty in both their premises and conclusions; however, only a few studies have explored the cortical basis of uncertain reasoning. Using transcranial magnetic stimulation (TMS), we show that areas in the right superior parietal lobe (rSPL) are necessary for solving spatial relational reasoning problems under conditions of uncertainty. Twenty-four participants had to decide whether a single presented order of objects agreed with a given set of indeterminate premises that could be interpreted in more than one way. During the presentation of the order, 10-Hz TMS was applied over the rSPL or a sham control site. Right SPL TMS during the inference phase disrupted performance in uncertain relational reasoning. Moreover, we found differences in the error rates between preferred mental models, alternative models, and inconsistent models. Our results suggest that different mechanisms are involved when people reason spatially and evaluate different kinds of uncertain conclusions. PMID:26970943

  8. Decoding Trajectories from Posterior Parietal Cortex Ensembles

    PubMed Central

    Mulliken, Grant H.; Musallam, Sam; Andersen, Richard A.

    2009-01-01

    High-level cognitive signals in the posterior parietal cortex (PPC) have previously been used to decode the intended endpoint of a reach, providing the first evidence that PPC can be used for direct control of a neural prosthesis (Musallam et al., 2004). Here we expand on this work by showing that PPC neural activity can be harnessed to estimate not only the endpoint but also to continuously control the trajectory of an end effector. Specifically, we trained two monkeys to use a joystick to guide a cursor on a computer screen to peripheral target locations while maintaining central ocular fixation. We found that we could accurately reconstruct the trajectory of the cursor using a relatively small ensemble of simultaneously recorded PPC neurons. Using a goal-based Kalman filter that incorporates target information into the state-space, we showed that the decoded estimate of cursor position could be significantly improved. Finally, we tested whether we could decode trajectories during closed-loop brain control sessions, in which the real-time position of the cursor was determined solely by a monkey’s neural activity in PPC. The monkey learned to perform brain control trajectories at 80% success rate(for 8 targets) after just 4–5 sessions. This improvement in behavioral performance was accompanied by a corresponding enhancement in neural tuning properties (i.e., increased tuning depth and coverage of encoding parameter space) as well as an increase in off-line decoding performance of the PPC ensemble. PMID:19036985

  9. 75 FR 28031 - National Institute of Dental & Craniofacial Research; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-05-19

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  10. 78 FR 3009 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

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    2013-01-15

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  11. 76 FR 57061 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

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    2011-09-15

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  12. 76 FR 5183 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

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    2011-01-28

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  13. 77 FR 64815 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

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    2012-10-23

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  14. 77 FR 10540 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

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    2012-02-22

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  15. 77 FR 76297 - National Institute of Dental & Craniofacial Research; Notice of Closed Meetings

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    2012-12-27

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  16. 78 FR 24761 - National Institute of Dental & Craniofacial Research; Notice of Closed Meetings

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    2013-04-26

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  17. 75 FR 8976 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

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    2010-02-26

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  18. 77 FR 57098 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

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    2012-09-17

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  19. 75 FR 7486 - National Institute of Dental & Craniofacial Research; Notice of Closed Meetings

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    2010-02-19

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  20. Morphometrics, 3D Imaging, and Craniofacial Development.

    PubMed

    Hallgrimsson, Benedikt; Percival, Christopher J; Green, Rebecca; Young, Nathan M; Mio, Washington; Marcucio, Ralph

    2015-01-01

    Recent studies have shown how volumetric imaging and morphometrics can add significantly to our understanding of morphogenesis, the developmental basis for variation, and the etiology of structural birth defects. On the other hand, the complex questions and diverse imaging data in developmental biology present morphometrics with more complex challenges than applications in virtually any other field. Meeting these challenges is necessary in order to understand the mechanistic basis for variation in complex morphologies. This chapter reviews the methods and theory that enable the application of modern landmark-based morphometrics to developmental biology and craniofacial development, in particular. We discuss the theoretical foundations of morphometrics as applied to development and review the basic approaches to the quantification of morphology. Focusing on geometric morphometrics, we discuss the principal statistical methods for quantifying and comparing morphological variation and covariation structure within and among groups. Finally, we discuss the future directions for morphometrics in developmental biology that will be required for approaches that enable quantitative integration across the genotype-phenotype map. PMID:26589938

  1. Endodontic treatment of a C-shaped mandibular second premolar with four root canals and three apical foramina: a case report

    PubMed Central

    Bertrand, Thikamphaa

    2016-01-01

    This case report describes a unique C-shaped mandibular second premolar with four canals and three apical foramina and its endodontic management with the aid of cone-beam computer tomography (CBCT). C-shaped root canal morphology with four canals was identified under a dental operating microscope. A CBCT scan was taken to evaluate the aberrant root canal anatomy and devise a better instrumentation strategy based on the anatomy. All canals were instrumented to have a 0.05 taper using 1.0 mm step-back filing with appropriate apical sizes determined from the CBCT scan images and filled using a warm vertical compaction technique. A C-shaped mandibular second premolar with multiple canals is an anatomically rare case for clinicians, yet its endodontic treatment may require a careful instrumentation strategy due to the difficulty in disinfecting the canals in the thin root area without compromising the root structure. PMID:26877993

  2. Applying Craniofacial Principles to Neurosurgical Exposures in Cerebrovascular Aneurysm Repair.

    PubMed

    Alperovich, Michael; Frey, Jordan D; Potts, Matthew B; Riina, Howard A; Staffenberg, David A

    2016-06-01

    The subspecialty of craniofacial surgery emphasizes skeletal exposure, preservation of critical structures, and provision of a superior cosmetic result. In recent decades, an emphasis on minimally invasive neurosurgical exposure has paved the way for increased collaboration between neurosurgeons and craniofacial surgeons.The 1990s saw the growing popularity of an eyebrow incision for orbital roof craniotomies in neurosurgery to address lesions in the anterior skull base. Disadvantages of this approach included conspicuous scarring above the brow skin, risk of injury to the frontal branch of the facial nerve, and numbness from supraorbital or supratrochlear nerve transection.A transpalpebral approach was first described in 2008 in the neurosurgical literature. An approach familiar to the craniofacial surgeon, transpalpebral exposure is used for zygomaticomaxillary complex fractures as well as aesthetic brow and periorbital surgery.In conjunction with neurosurgery, the authors have applied craniofacial principles to address the major pitfalls of the transpalpebral craniotomy. The authors present their patient series experience. Hopefully, in the future, other institutions will have increased collaboration between craniofacial surgeons and neurosurgeons. PMID:27192638

  3. Zebrafish Craniofacial Development: A Window into Early Patterning

    PubMed Central

    Mork, Lindsey; Crump, Gage

    2016-01-01

    The formation of the face and skull involves a complex series of developmental events mediated by cells derived from the neural crest, endoderm, mesoderm, and ectoderm. Although vertebrates boast an enormous diversity of adult facial morphologies, the fundamental signaling pathways and cellular events that sculpt the nascent craniofacial skeleton in the embryo have proven to be highly conserved from fish to man. The zebrafish Danio rerio, a small freshwater cyprinid fish from eastern India, has served as a popular model of craniofacial development since the 1990s. Unique strengths of the zebrafish model include a simplified skeleton during larval stages, access to rapidly developing embryos for live imaging, and amenability to transgenesis and complex genetics. In this chapter, we describe the anatomy of the zebrafish craniofacial skeleton; its applications as models for the mammalian jaw, middle ear, palate, and cranial sutures; the superior imaging technology available in fish that has provided unprecedented insights into the dynamics of facial morphogenesis; the use of the zebrafish to decipher the genetic underpinnings of craniofacial biology; and finally a glimpse into the most promising future applications of zebrafish craniofacial research. PMID:26589928

  4. Genetic Analysis of Craniofacial Traits in the Medaka

    PubMed Central

    Kimura, Tetsuaki; Shimada, Atsuko; Sakai, Noriyoshi; Mitani, Hiroshi; Naruse, Kiyoshi; Takeda, Hiroyuki; Inoko, Hidetoshi; Tamiya, Gen; Shinya, Minori

    2007-01-01

    Family and twin studies suggest that a substantial genetic component underlies individual differences in craniofacial morphology. In the current study, we quantified 444 craniofacial traits in 100 individuals from two inbred medaka (Oryzias latipes) strains, HNI and Hd-rR. Relative distances between defined landmarks were measured in digital images of the medaka head region. A total of 379 traits differed significantly between the two strains, indicating that many craniofacial traits are controlled by genetic factors. Of these, 89 traits were analyzed via interval mapping of 184 F2 progeny from an intercross between HNI and Hd-rR. We identified quantitative trait loci for 66 craniofacial traits. The highest logarithm of the odds score was 6.2 for linkage group (LG) 9 and 11. Trait L33, which corresponds to the ratio of head length to head height at eye level, mapped to LG9; trait V15, which corresponds to the ratio of snout length to head width measured behind the eyes, mapped to LG11. Our initial results confirm the potential of the medaka as a model system for the genetic analysis of complex traits such as craniofacial morphology. PMID:18073435

  5. Craniofacial shape variation in Twist1+/- mutant mice.

    PubMed

    Parsons, Trish E; Weinberg, Seth M; Khaksarfard, Kameron; Howie, R Nicole; Elsalanty, Mohammed; Yu, Jack C; Cray, James J

    2014-05-01

    Craniosynostosis (CS) is a relatively common birth defect resulting from the premature fusion of one or more cranial sutures. Human genetic studies have identified several genes in association with CS. One such gene that has been implicated in both syndromic (Saethre-Chotzen syndrome) and nonsyndromic forms of CS in humans is TWIST1. In this study, a heterozygous Twist1 knock out (Twist1(+/-) ) mouse model was used to study the craniofacial shape changes associated with the partial loss of function. A geometric morphometric approach was used to analyze landmark data derived from microcomputed tomography scans to compare craniofacial shape between 17 Twist1(+/-) mice and 26 of their Twist1(+/+) (wild type) littermate controls at 15 days of age. The results show that despite the purported wide variation in synostotic severity, Twist1(+/-) mice have a consistent pattern of craniofacial dysmorphology affecting all major regions of the skull. Similar to Saethre-Chotzen, the calvarium is acrocephalic and wide with an overall brachycephalic shape. Mutant mice also exhibited a shortened cranial base and a wider and shorted face, consistent with coronal CS associated phenotypes. The results suggest that these differences are at least partially the direct result of the Twist1 haploinsufficiency on the developing craniofacial skeleton. This study provides a quantitative phenotype complement to the developmental and molecular genetic research previously done on Twist1. These results can be used to generate further hypotheses about the effect of Twist1 and premature suture fusion on the entire craniofacial skeleton. PMID:24585549

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

    PubMed

    Marius-Nunez, A L; Wasiak, D T

    2015-10-01

    Among the representations of congenital malformations in Moche ceramic art, cranio-facial clefts have been portrayed in pottery found in Moche burials. These pottery vessels were used as domestic items during lifetime and funerary offerings upon death. The aim of this study was to examine archeological evidence for representations of cranio-facial cleft malformations in Moche vessels. Pottery depicting malformations of the midface in Moche collections in Lima-Peru were studied. The malformations portrayed on pottery were analyzed using the Tessier classification. Photographs were authorized by the Larco Museo.Three vessels were observed to have median cranio-facial dysraphia in association with midline cleft of the lower lip with cleft of the mandible. ML001489 portrays a median cranio-facial dysraphia with an orbital cleft and a midline cleft of the lower lip extending to the mandible. ML001514 represents a median facial dysraphia in association with an orbital facial cleft and a vertical orbital dystopia. ML001491 illustrates a median facial cleft with a soft tissue cleft. Three cases of midline, orbital and lateral facial clefts have been portrayed in Moche full-figure portrait vessels. They represent the earliest registries of congenital cranio-facial malformations in ancient Peru. PMID:26010214

  7. 76 FR 38193 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-06-29

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  8. 77 FR 23488 - National Institute of Dental & Craniofacial Research; Notice of Meeting

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  9. 78 FR 7794 - National Institute of Dental & Craniofacial Research; Notice of Closed Meetings

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    2013-02-04

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  10. Evolution of posterior parietal cortex and parietal-frontal networks for specific actions in primates.

    PubMed

    Kaas, Jon H; Stepniewska, Iwona

    2016-02-15

    Posterior parietal cortex (PPC) is an extensive region of the human brain that develops relatively late and is proportionally large compared with that of monkeys and prosimian primates. Our ongoing comparative studies have led to several conclusions about the evolution of this posterior parietal region. In early placental mammals, PPC likely was a small multisensory region much like PPC of extant rodents and tree shrews. In early primates, PPC likely resembled that of prosimian galagos, in which caudal PPC (PPCc) is visual and rostral PPC (PPCr) has eight or more multisensory domains where electrical stimulation evokes different complex motor behaviors, including reaching, hand-to-mouth, looking, protecting the face or body, and grasping. These evoked behaviors depend on connections with functionally matched domains in premotor cortex (PMC) and motor cortex (M1). Domains in each region compete with each other, and a serial arrangement of domains allows different factors to influence motor outcomes successively. Similar arrangements of domains have been retained in New and Old World monkeys, and humans appear to have at least some of these domains. The great expansion and prolonged development of PPC in humans suggest the addition of functionally distinct territories. We propose that, across primates, PMC and M1 domains are second and third levels in a number of parallel, interacting networks for mediating and selecting one type of action over others. PMID:26101180

  11. Premotor and parietal cortex: corticocortical connectivity and combinatorial computations.

    PubMed

    Wise, S P; Boussaoud, D; Johnson, P B; Caminiti, R

    1997-01-01

    The dorsal premotor cortex is a functionally distinct cortical field or group of fields in the primate frontal cortex. Anatomical studies have confirmed that most parietal input to the dorsal premotor cortex originates from the superior parietal lobule. However, these projections arise not only from the dorsal aspect of area 5, as has long been known, but also from newly defined areas of posterior parietal cortex, which are directly connected with the extrastriate visual cortex. Thus, the dorsal premotor cortex receives much more direct visual input than previously accepted. It appears that this fronto-parietal network functions as a visuomotor controller-one that makes computations based on proprioceptive, visual, gaze, attentional, and other information to produce an output that reflects the selection, preparation, and execution of movements. PMID:9056706

  12. Parietal damage impairs learning of a visuomotor tracking skill.

    PubMed

    Cavaco, Sara; Anderson, Steven W; Chen, Kuan-Hua; Teixeira-Pinto, Armando; Damasio, Hanna

    2015-12-01

    This study evaluated the consequences of damage to the parietal lobe for learning a visuomotor tracking skill. Thirty subjects with a single unilateral brain lesion (13 with and 17 without parietal damage) and 23 demographically comparable healthy subjects performed the Rotary Pursuit task. For each group, time on target increased significantly across the four learning blocks. Subjects with parietal lesions had smaller improvements on the Rotary Pursuit from the 1st to the 4th block than subjects with lesions in other brain areas and healthy comparison subjects. The improvements on task performance from the 1st to the 2nd and from the 1st to the 3rd learning blocks were similar between groups. The parietal lobe appears to play an important role in the acquisition of a new visuomotor tracking skill, in particular during a relatively late phase of learning. PMID:26536523

  13. Cephalometric Assessment of Upper Airway Effects on Craniofacial Morphology.

    PubMed

    Ardehali, Mojtaba Mohamadi; Zarch, Varasteh Vakili; Joibari, Mohammad-Esmaeil; Kouhi, Ali

    2016-03-01

    To investigate craniofacial growth deformities in children with upper airway obstruction, this controlled study was performed. Cephalometry is used as a screening test for anatomic abnormalities in patients with obstructive sleep apnea syndrome. Therefore, the current work selected this method to investigate the effect of upper airway obstruction on craniofacial morphology.Patients with upper airway obstruction (104) were compared with 71 controls. Patients with upper airway compromise had mandibular hypoplasia, mandibular retrognathism, and higher hard palates in comparison with controls with no history of airway obstruction. The difference was higher in the older age group.Airway obstruction has significant correlation craniofacial morphology. Our findings support the idea of early assessment and thorough management of mouth breathing in children. PMID:26967073

  14. Alcohol use in pregnancy, craniofacial features, and fetal growth.

    PubMed Central

    Rostand, A; Kaminski, M; Lelong, N; Dehaene, P; Delestret, I; Klein-Bertrand, C; Querleu, D; Crepin, G

    1990-01-01

    STUDY OBJECTIVE--The aim was to study the relationship between the level of alcohol consumption in pregnancy and craniofacial characteristics of the neonate. DESIGN--This was a prospective survey of a sample of pregnant women, stratified on prepregnancy level of alcohol consumption. SETTING--The study was carried out at the public antenatal clinic of Roubaix maternity hospital. PARTICIPANTS--During an eight month period, 684 women (89% of those eligible) were interviewed in a standardised way at their first antenatal clinic visit. Of these, all who were suspected of being alcoholic or heavy drinkers (at least 21 drinks per week) were selected for follow up, as was a subsample of light (0-6 drinks per week) and moderate (7-20 drinks per week) drinkers. Of 347 women selected in this way, 202 had their infants assessed by a standardised morphological examination. MEASUREMENTS AND AND MAIN RESULTS--Suggestive craniofacial characteristics of the infants, present either in isolation or in association with growth retardation ("fetal alcohol effects"), were compared in relation to maternal alcohol consumption (alcoholic 12%; heavy drinking 24%; moderate drinking 28%; light drinking 36%). No differences were found between light and moderate drinkers. Infants born to alcoholics had a greater number of craniofacial characteristics and the proportion with features compatible with fetal alcohol effects was higher. There was a similar trend for infants of heavy drinkers. Infants of heavy drinkers who had decreased their alcohol consumption during pregnancy had fewer craniofacial features. Infants of heavy smokers were also found to have increased numbers of craniofacial characteristics. CONCLUSIONS--Craniofacial morphology could be a sensitive indicator of alcohol exposure in utero. Altered morphology is usually considered specific for alcohol exposure, but the relation observed with smoking needs further exploration. PMID:2277252

  15. Craniofacial Asymmetry in Adults With Neglected Congenital Muscular Torticollis

    PubMed Central

    Jeong, Kil-Yong; Min, Kyung-Jay; Woo, Jieun

    2015-01-01

    Objective To evaluate the craniofacial asymmetry in adults with neglected congenital muscular torticollis (CMT) by quantitative assessment based on craniofacial three-dimensional computed tomography (3D-CT). Methods Preoperative craniofacial asymmetry was measured by 3D-CT for 31 CMT subjects ≥18 years of age who visited a tertiary medical center and underwent 3D-CT between January 2009 and December 2013. The relationship between the age and the severity of craniofacial asymmetry was analyzed in reference to anteroposterior length asymmetry of the frontal bone and zygomatic arch, vertical and lateral displacements of the facial landmarks, and mandibular axis rotation. Results The age at CT was 27.71±7.02 years (range, 18-44 years). All intra-class correlation coefficients were higher than 0.7, suggesting good inter-rater reliability (p<0.05) of all the measurements. The frontal and the zygomatic length ratio (i.e., the anteroposterior length asymmetry on the axial plane) was 1.06±0.03 and 1.07±0.03, respectively, which was increased significantly with age in the linear regression analysis (r2=0.176, p=0.019 and r2=0.188, p=0.015, respectively). The vertical or lateral displacement of the facial landmarks and rotation of the mandibular axis did not significantly correlate with age (p>0.05). Conclusion Craniofacial asymmetry of neglected CMT became more severe with age in terms of anteroposterior length asymmetry of the ipsilateral frontal bone and zygomatic arch on the axial plane even after growth cessation. This finding may enhance the understanding of therapeutic strategies for craniofacial asymmetry in adults with neglected CMT. PMID:26161351

  16. Parietal lesion effects on cued recall following pair associate learning.

    PubMed

    Ben-Zvi, Shir; Soroker, Nachum; Levy, Daniel A

    2015-07-01

    We investigated the involvement of the posterior parietal cortex in episodic memory in a lesion-effects study of cued recall following pair-associate learning. Groups of patients who had experienced first-incident stroke, generally in middle cerebral artery territory, and exhibited damage that included lateral posterior parietal regions, were tested within an early post-stroke time window. In three experiments, patients and matched healthy comparison groups executed repeated study and cued recall test blocks of pairs of words (Experiment 1), pairs of object pictures (Experiment 2), or pairs of object pictures and environmental sounds (Experiment 3). Patients' brain CT scans were subjected to quantitative analysis of lesion volumes. Behavioral and lesion data were used to compute correlations between area lesion extent and memory deficits, and to conduct voxel-based lesion-symptom mapping. These analyses implicated lateral ventral parietal cortex, especially the angular gyrus, in cued recall deficits, most pronouncedly in the cross-modal picture-sound pairs task, though significant parietal lesion effects were also found in the unimodal word pairs and picture pairs tasks. In contrast to an earlier study in which comparable parietal lesions did not cause deficits in item recognition, these results indicate that lateral posterior parietal areas make a substantive contribution to demanding forms of recollective retrieval as represented by cued recall, especially for complex associative representations. PMID:25998492

  17. Mapping multisensory parietal face and body areas in humans.

    PubMed

    Huang, Ruey-Song; Chen, Ching-fu; Tran, Alyssa T; Holstein, Katie L; Sereno, Martin I

    2012-10-30

    Detection and avoidance of impending obstacles is crucial to preventing head and body injuries in daily life. To safely avoid obstacles, locations of objects approaching the body surface are usually detected via the visual system and then used by the motor system to guide defensive movements. Mediating between visual input and motor output, the posterior parietal cortex plays an important role in integrating multisensory information in peripersonal space. We used functional MRI to map parietal areas that see and feel multisensory stimuli near or on the face and body. Tactile experiments using full-body air-puff stimulation suits revealed somatotopic areas of the face and multiple body parts forming a higher-level homunculus in the superior posterior parietal cortex. Visual experiments using wide-field looming stimuli revealed retinotopic maps that overlap with the parietal face and body areas in the postcentral sulcus at the most anterior border of the dorsal visual pathway. Starting at the parietal face area and moving medially and posteriorly into the lower-body areas, the median of visual polar-angle representations in these somatotopic areas gradually shifts from near the horizontal meridian into the lower visual field. These results suggest the parietal face and body areas fuse multisensory information in peripersonal space to guard an individual from head to toe. PMID:23071340

  18. Parietal cortex and representation of the mental Self

    PubMed Central

    Lou, Hans C.; Luber, Bruce; Crupain, Michael; Keenan, Julian P.; Nowak, Markus; Kjaer, Troels W.; Sackeim, Harold A.; Lisanby, Sarah H.

    2004-01-01

    For a coherent and meaningful life, conscious self-representation is mandatory. Such explicit “autonoetic consciousness” is thought to emerge by retrieval of memory of personally experienced events (“episodic memory”). During episodic retrieval, functional imaging studies consistently show differential activity in medial prefrontal and medial parietal cortices. With positron-emission tomography, we here show that these medial regions are functionally connected and interact with lateral regions that are activated according to the degree of self-reference. During retrieval of previous judgments of Oneself, Best Friend, and the Danish Queen, activation increased in the left lateral temporal cortex and decreased in the right inferior parietal region with decreasing self-reference. Functionally, the former region was preferentially connected to medial prefrontal cortex, the latter to medial parietal. The medial parietal region may, then, be conceived of as a nodal structure in self-representation, functionally connected to both the right parietal and the medial prefrontal cortices. To determine whether medial parietal cortex in this network is essential for episodic memory retrieval with self-representation, we used transcranial magnetic stimulation over the region to transiently disturb neuronal circuitry. There was a decrease in the efficiency of retrieval of previous judgment of mental Self compared with retrieval of judgment of Other with transcranial magnetic stimulation at a latency of 160 ms, confirming the hypothesis. This network is strikingly similar to the network of the resting conscious state, suggesting that self-monitoring is a core function in resting consciousness. PMID:15096584

  19. Distinguishing Goldenhar Syndrome from Craniofacial Microsomia.

    PubMed

    Tuin, Jorien; Tahiri, Youssef; Paliga, James T; Taylor, Jesse A; Bartlett, Scott P

    2015-09-01

    Goldenhar syndrome is characterized by the typical features of craniofacial microsomia (CFM) with the addition of epibulbar dermoids and vertebral anomalies. The aim of this study is to examine the objective differences between patients carrying a diagnosis of Goldenhar syndrome to those diagnosed with CFM. Thus, we performed an Institutional Review Board-approved retrospective chart review on all patients who presented with a diagnosis of CFM or Goldenhar syndrome from January 1990 to December 2012. Demographic, diagnosis, OMENS+ classification, accompanying diagnoses, and radiographic data were collected. For subjective analysis, subgroups were designed based on the diagnosis Goldenhar syndrome or CFM per history. For objective analysis, subgroups were designed based on the presence of epibulbar dermoids and/or vertebral anomalies. The cohorts were compared with respect to associated medical abnormalities and severity of CFM features. One hundred thirty eight patients met inclusion criteria. Epibulbar dermoids and vertebral anomalies were seen in 17% and 34% of the patients, respectively. Only 10 patients (7.2%) had both epibulbar dermoids and vertebral anomalies. The subjective "Goldenhar" group (N = 44, 32%) was found to have a higher percentage of bilaterally affected patients (P = 0.001), a more severe mandibular deformity (P = <0.001), a more severe soft tissue deformity (P = 0.01), and a higher incidence of macrostomia (P = 0.003). In the objective subgroup analysis, the only significant difference was found in the degree of soft tissue deficiency (P = 0.049). The diagnostic criteria of Goldenhar syndrome remain unclear, thereby making clinical use of the term "Goldenhar" inconsequential. Goldenhar syndrome is over diagnosed subjectively in patients who show more severe CFM features. PMID:26267577

  20. Genesis of alcohol-induced craniofacial dysmorphism.

    PubMed

    Sulik, Kathleen K

    2005-06-01

    The initial diagnosis of fetal alcohol syndrome (FAS) in the United States was made because of the facial features common to the first cohort of patients. This article reviews the development of an FAS mouse model whose craniofacial features are remarkably similar to those of affected humans. The model is based on short-term maternal treatment with a high dosage of ethanol at stages of pregnancy that are equivalent to Weeks 3 and 4 of human gestation. At these early stages of development, alcohol's insult to the developing face is concurrent with that to the brain, eyes, and inner ear. That facial and central nervous system defects consistent with FAS can be induced by more "realistic" alcohol dosages as illustrated with data from an oral alcohol intake mouse model in which maternal blood alcohol levels do not exceed 200 mg/dl. The ethanol-induced pathogenesis involves apoptosis that occurs within 12 hrs of alcohol exposure in selected cell populations of Day 7, 8, and 9 mouse embryos. Experimental evidence from other species also shows that apoptosis underlies ethanol-induced malformations. With knowledge of sensitive and resistant cell populations at specific developmental stages, studies designed to identify the basis for these differing cellular responses and, therefore, to determine the primary mechanisms of ethanol's teratogenesis are possible. For example, microarray comparisons of sensitive and resistant embryonic cell populations have been made, as have in situ studies of gene expression patterns in the populations of interest. Studies that illustrate agents that are effective in diminishing or exacerbating ethanol's teratogenesis have also been helpful in determining mechanisms. Among these agents are antioxidants, sonic hedgehog protein, retinoids, and the peptides SAL and NAP. PMID:15956766

  1. Obstructive sleep apnoea in children with craniofacial syndromes

    PubMed Central

    Cielo, Christopher M.

    2014-01-01

    Summary Obstructive sleep apnoea syndrome (OSAS) is common in children. Craniofacial anomalies such as cleft palate are among the most common congenital conditions. Children with a variety of craniofacial conditions, including cleft palate, micrognathia, craniosynostosis, and midface hypoplasia are at increased risk for OSAS. Available evidence, which is largely limited to surgical case series and retrospective studies, suggests that OSAS can be successfully managed in these children through both surgical and non-surgical techniques. Prospective studies using larger cohorts of patients and including polysomnograms are needed to better understand the risk factors for this patient population and the efficacy of treatment options for OSAS and their underlying conditions. PMID:25555676

  2. The relationship between nasal obstruction and craniofacial growth.

    PubMed

    Smith, R M; Gonzalez, C

    1989-12-01

    The relationship between nasal obstruction and craniofacial growth is unclear. The literature indicates that upper-airway compromise produces chronic mouth breathing, especially in the dolichocephalic (narrow-faced) child. It has been shown that a greater tendency exists toward the skeletal pattern associated with long face syndrome in dolichocephalic head types. Therefore, it becomes difficult to assess whether the long face syndrome is a cause or an effect of increased nasal airway resistance. Nevertheless, animal studies have demonstrated the development of typical craniofacial anomalies in experimentally induced nasal obstruction. Some of these changes are also noted to be reversed by removing the nasal obstruction. Although much of the concern for nasal obstruction and abnormal dentofacial growth has centered around adenotonsillar hypertrophy, other causes for nasal obstruction should be sought. Allergic rhinitis and choanal atresia also should be considered. Longitudinal data are lacking to support conclusively abnormal dentofacial growth as an indication for surgical intervention. Available literature would suggest, however, that relief of nasal obstruction should be attempted in an effort to establish a patent airway and decrease the possibility of abnormal craniofacial development. The more information we gain about nasal obstruction and abnormal dentofacial development, the greater our diagnostic ability becomes. We can now incorporate information from a thorough nasal-oral examination with rhinomanometry and cephalometrics to provide a rational treatment plan for these children. Future directions should investigate genetic influences on craniofacial morphology and growth. PMID:2587086

  3. The genesis of craniofacial biology as a health science discipline.

    PubMed

    Sperber, G H; Sperber, S M

    2014-06-01

    The craniofacial complex encapsulates the brain and contains the organs for key functions of the body, including sight, hearing and balance, smell, taste, respiration and mastication. All these systems are intimately integrated within the head. The combination of these diverse systems into a new field was dictated by the dental profession's desire for a research branch of basic science devoted and attuned to its specific needs. The traditional subjects of genetics, embryology, anatomy, physiology, biochemistry, dental materials, odontology, molecular biology and palaeoanthropology pertaining to dentistry have been drawn together by many newly emerging technologies. These new technologies include gene sequencing, CAT scanning, MRI imaging, laser scanning, image analysis, ultrasonography, spectroscopy and visualosonics. A vibrant unitary discipline of investigation, craniofacial biology, has emerged that builds on the original concept of 'oral biology' that began in the 1960s. This paper reviews some of the developments that have led to the genesis of craniofacial biology as a fully-fledged health science discipline of significance in the advancement of clinical dental practice. Some of the key figures and milestones in craniofacial biology are identified. PMID:24495071

  4. Hutchinson-Gilford progeria syndrome: Oral and craniofacial phenotypes

    PubMed Central

    Domingo, D.L.; Trujillo, M.I.; Council, S.E.; Merideth, M.A.; Gordon, L.B.; Wu, T.; Introne, W.J.; Gahl, W.A.; Hart, T.C.

    2008-01-01

    OBJECTIVE Hutchinson-Gilford progeria syndrome (HGPS) is a rare early-onset accelerated senescence syndrome. In HGPS, a recently identified de novo dominant mutation of the lamin A gene (LMNA) produces abnormal lamin A, resulting in compromised nuclear membrane integrity. Clinical features include sclerotic skin, cardiovascular and bone abnormalities, and marked growth retardation. Craniofacial features include “bird-like” facies, alopecia, craniofacial disproportion and dental crowding. Our prospective study describes dental, oral soft tissue, and craniofacial bone features in HGPS. METHODS Fifteen patients with confirmed p.G608G LMNA mutation (1–17 years, 7 males, 8 females) received comprehensive oral evaluations. Anomalies of oral soft tissue, gnathic bones and dentition were identified. RESULTS Radiographic findings included hypodontia (n=7), dysmorphic teeth (n=5), steep mandibular angles (n=11), and thin basal bone (n=11). Soft tissue findings included ogival palatal arch (n=8), median sagittal palatal fissure (n=7), and ankyloglossia (n=7). Calculated dental ages (9months–11y2m) were significantly lower than chronological ages (1y6m–17y8m) (p=0.002). Eleven children manifested a shorter mandibular body, anterior/posterior cranial base and ramus, but a larger gonial angle, compared to age/gender/race norms. CONCLUSION Novel oral-craniofacial phenotypes and quantification of previously reported features are presented. Our findings expand the HGPS phenotype and provide additional insight into the complex pathogenesis of HGPS. PMID:19236595

  5. Analysis of the 50 most cited papers in craniofacial surgery.

    PubMed

    Tahiri, Youssef; Fleming, Tara M; Greathouse, Travis; Tholpady, Sunil S

    2015-12-01

    The intent of this study is to discuss the most prominent literature in craniofacial surgery. To do so, using the ISI Web of Science, a ranking by average number of citations per year of the top 50 craniofacial surgery articles was compiled. All plastic surgery journals listed in the "Surgery" category in the ISI Web of Knowledge Journal Citation Reports 2013 Science Edition were considered. Journal of publication, country of origin, collaborating institutions, topic of interest, and level of evidence were analyzed. The total number of citations ranged from 47 to 1017. Average number of citations per year ranged from 46.2 to 8.6. The oldest article in the top 50 was published in 1988 and the most recent in 2009. The majority of the articles came from Plastic and Reconstructive Surgery with 28 of the 50. The majority of the articles, originated from the United States (56%). Reconstruction of acquired defects was the most commonly examined topic at 46.2%; followed by articles discussing reconstruction of congenital defects (23.1%). The most common level of evidence was level 3. This extensive examination of the craniofacial literature highlights the important part that craniofacial surgery takes in the field of plastic surgery. PMID:26541748

  6. Mechanisms of spatial attention control in frontal and parietal cortex.

    PubMed

    Szczepanski, Sara M; Konen, Christina S; Kastner, Sabine

    2010-01-01

    Theories of spatial attentional control have been largely based upon studies of patients suffering from visuospatial neglect, resulting from circumscribed lesions of frontal and posterior parietal cortex. In the intact brain, the control of spatial attention has been related to a distributed frontoparietal attention network. Little is known about the nature of the control mechanisms exerted by this network. Here, we used a novel region-of-interest approach to relate activations of the attention network to recently described topographic areas in frontal cortex [frontal eye field (FEF), PreCC/IFS (precentral cortex/inferior frontal sulcus)] and parietal cortex [intraparietal sulcus areas (IPS1-IPS5) and an area in the superior parietal lobule (SPL1)] to examine their spatial attention signals. We found that attention signals in most topographic areas were spatially specific, with stronger responses when attention was directed to the contralateral than to the ipsilateral visual field. Importantly, two hemispheric asymmetries were found. First, a region in only right, but not left SPL1 carried spatial attention signals. Second, left FEF and left posterior parietal cortex (IPS1/2) generated stronger contralateral biasing signals than their counterparts in the right hemisphere. These findings are the first to characterize spatial attention signals in topographic frontal and parietal cortex and provide a neural basis in support of an interhemispheric competition account of spatial attentional control. PMID:20053897

  7. Reorganization of craniofacial/cleft care delivery: the Massachusetts experience.

    PubMed

    Borah, G L; Hagberg, N; Jakubiak, C; Temple, J

    1993-05-01

    Until 1989, the Commonwealth of Massachusetts operated a mandated care program known as Services for Handicapped Children (SHC) for children with cleft lip/palate or craniofacial anomalies. During the mid 1980s, the federal government reduced its block grant funds and encouraged the Commonwealth of Massachusetts to develop Project SERVE to address this changing fiscal reality. The principal outcome of Project SERVE was the recommendation that the SHC direct care programs, including all craniofacial and cleft palate clinics, should be dismantled over a number of years. However, due to the economic recession, all government funding was suddenly withdrawn from cleft palate teams and the state-run SHC clinics were abruptly dissolved. To treat patients left without coordinated care, former team members reassembled and began a new craniofacial team based at the University of Massachusetts Medical Center. Difficulties with the transition of the clinic included recruiting and retaining team members; remuneration procedures for team members; maintenance of patient records previously kept by the state; coordination of clinical/clerical responsibilities; identifying a physical locale to hold the clinics; and solicitation of referring health care provider referrals and follow-up. All these issues required specific interventions that are presented in this paper. Project SERVE, begun under federal auspices, in the Commonwealth of Massachusetts, has recently been promoted as a model for a new and improved approach to the management of cleft palate and craniofacial care delivery nationwide. Awareness of the potential for abrupt, radical change in funding for federally mandated cleft/craniofacial care is essential, and a successful transition to a medical center-based model is possible using the procedures established at our center. PMID:8338866

  8. [Microbiocenosis of parietal mucin in the gastrointestinal tract of rats].

    PubMed

    Vorob'ev, A A; Nesvizhskiĭ, Iu V; Bogdanova, E A; Korneev, L M

    2005-01-01

    The qualitative and quantitative composition of the microbial community in parietal mucin at different areas of the gastrointestinal tract (GIT) of rats was revealed. The pronounced variability in the quantitative and qualitative characteristics of microbiocenosis in parietal mucin of rats at different sections was revealed. The differences were most pronounced in the passage from upper to lower GIT sections, the large intestine found to be the richest biocenosis. The microbial composition of rat feces was faintly associated with the GIT parietal microbiocenosis. The individual areas of GIT mucosa were unique of their microbial characteristics and organization. This makes it possible to regard them as relatively independent biotopes and indicates that it is impossible to evaluate the microbial community by one of the colonic mucosal sifes. PMID:16438365

  9. FRONTAL AND PARIETAL CORTEX CONTRIBUTIONS TO ACTION MODIFICATION

    PubMed Central

    Mutha, Pratik K.; Stapp, Lee H.; Sainburg, Robert L.; Haaland, Kathleen Y.

    2014-01-01

    Successful achievement of task goals depends critically on the ability to adjust ongoing actions in response to environmental changes. The neural substrates underlying action modification have been a topic of great controversy: both, posterior parietal cortex and frontal regions, particularly prefrontal cortex have been previously identified as crucial in this regard, with most studies arguing in favor of one or the other. We aimed to address this controversy and understand whether frontal and parietal regions might play distinct roles during action modification. We tested ipsilesional arm performance of 27 stroke patients with focal lesions to frontal or parietal regions of the left or right cerebral hemisphere, and left or right arm performance of 18 healthy subjects on the classic double-step task in which a target is unpredictably displaced to a new location, requiring modification of the ongoing action. Only right hemisphere frontal lesions adversely impacted the timing of initiation of the modified response, while only left hemisphere parietal lesions impaired the accuracy of the modified action. Patients with right frontal lesions tended to complete the ongoing action to the initially displayed baseline target and initiated the new movement after a significant delay. In contrast, patients with left parietal damage did not accurately reach the new target location, but compared to the other groups, initiated the new action during an earlier phase of motion, before their baseline action was complete. Our findings thus suggest distinct, hemisphere specific contributions of frontal and parietal regions to action modification, and bring together, for the first time, disparate sets of prior findings about its underlying neural substrates. PMID:24763127

  10. The suture provides a niche for mesenchymal stem cells of craniofacial bones

    PubMed Central

    Zhao, Hu; Feng, Jifan; Ho, Thach-Vu; Grimes, Weston; Urata, Mark; Chai, Yang

    2015-01-01

    Bone tissue undergoes constant turnover supported by stem cells. Recent studies showed that perivascular mesenchymal stem cells (MSCs) contribute to the turnover of long bones. Craniofacial bones are flat bones derived from a different embryonic origin than the long bones. The identity and regulating niche for craniofacial bone MSCs remain unknown. Here, we identify Gli1+ cells within the suture mesenchyme as the major MSC population for craniofacial bones. They are not associated with vasculature, give rise to all craniofacial bones in the adult and are activated during injury repair. Gli1+ cells are typical MSCs in vitro. Ablation of Gli1+ cells leads to craniosynostosis and arrest of skull growth, indicating these cells are an indispensible stem cell population. Twist1+/− mice with craniosynostosis show reduced Gli1+ MSCs in sutures, suggesting that craniosynostosis may result from diminished suture stem cells. Our study indicates that craniofacial sutures provide a unique niche for MSCs for craniofacial bone homeostasis and repair. PMID:25799059

  11. Parietal network underlying movement control: disturbances during subcortical electrostimulation.

    PubMed

    Almairac, Fabien; Herbet, Guillaume; Moritz-Gasser, Sylvie; Duffau, Hugues

    2014-07-01

    Our understanding of brain movement control has changed over the last two decades. Recent findings in the monkey and in humans have led to a parallel and interconnected network. Nevertheless, little is known about these networks. Here, we present two cases of patients with a parietal low-grade glioma. They underwent surgery under local anesthesia with cortical and subcortical mapping. For patient 1, subcortical electrostimulation immediately posterior to thalamocortical fibers induced movement disorders, with an inhibition of leg and arm movements medially and, more laterally, an acceleration of arm movement. For patient 2, electrostimulation of white matter immediately posterior to thalamocortical fibers induced an inhibition of both arm movement. It means that the detected fibers in the parietal lobe may be involved in the motor control modulation. They are distributed veil-like immediately posterior to thalamocortical pathways and could correspond to a fronto-parietal movement control subnetwork. These two cases highlight the major role of the subcortical connectivity in movement regulation, involving parietal lobe, thus the necessity to be identified and preserved during brain surgery. PMID:24526369

  12. Impairments in Tactile Search Following Superior Parietal Damage

    ERIC Educational Resources Information Center

    Skakoon-Sparling, Shayna P.; Vasquez, Brandon P.; Hano, Kate; Danckert, James

    2011-01-01

    The superior parietal cortex is critical for the control of visually guided actions. Research suggests that visual stimuli relevant to actions are preferentially processed when they are in peripersonal space. One recent study demonstrated that visually guided movements towards the body were more impaired in a patient with damage to superior…

  13. Parietal cortex mediates perceptual Gestalt grouping independent of stimulus size.

    PubMed

    Grassi, Pablo R; Zaretskaya, Natalia; Bartels, Andreas

    2016-06-01

    The integration of local moving elements into a unified gestalt percept has previously been linked to the posterior parietal cortex. There are two possible interpretations for the lack of involvement of other occipital regions. The first is that parietal cortex is indeed uniquely functionally specialized to perform grouping. Another possibility is that other visual regions can perform grouping as well, but that the large spatial separation of the local elements used previously exceeded their neurons' receptive field (RF) sizes, preventing their involvement. In this study we distinguished between these two alternatives. We measured whole-brain activity using fMRI in response to a bistable motion illusion that induced mutually exclusive percepts of either an illusory global Gestalt or of local elements. The stimulus was presented in two sizes, a large version known to activate IPS only, and a version sufficiently small to fit into the RFs of mid-level dorsal regions such as V5/MT. We found that none of the separately localized motion regions apart from parietal cortex showed a preference for global Gestalt perception, even for the smaller version of the stimulus. This outcome suggests that grouping-by-motion is mediated by a specialized size-invariant mechanism with parietal cortex as its anatomical substrate. PMID:26975554

  14. Left inferior parietal lobe engagement in social cognition and language.

    PubMed

    Bzdok, Danilo; Hartwigsen, Gesa; Reid, Andrew; Laird, Angela R; Fox, Peter T; Eickhoff, Simon B

    2016-09-01

    Social cognition and language are two core features of the human species. Despite distributed recruitment of brain regions in each mental capacity, the left parietal lobe (LPL) represents a zone of topographical convergence. The present study quantitatively summarizes hundreds of neuroimaging studies on social cognition and language. Using connectivity-based parcellation on a meta-analytically defined volume of interest (VOI), regional coactivation patterns within this VOI allowed identifying distinct subregions. Across parcellation solutions, two clusters emerged consistently in rostro-ventral and caudo-ventral aspects of the parietal VOI. Both clusters were functionally significantly associated with social-cognitive and language processing. In particular, the rostro-ventral cluster was associated with lower-level processing facets, while the caudo-ventral cluster was associated with higher-level processing facets in both mental capacities. Contrarily, in the (less stable) dorsal parietal VOI, all clusters reflected computation of general-purpose processes, such as working memory and matching tasks, that are frequently co-recruited by social or language processes. Our results hence favour a rostro-caudal distinction of lower- versus higher-level processes underlying social cognition and language in the left inferior parietal lobe. PMID:27241201

  15. The society for craniofacial genetics and developmental biology 38th annual meeting.

    PubMed

    Taneyhill, Lisa A; Hoover-Fong, Julie; Lozanoff, Scott; Marcucio, Ralph; Richtsmeier, Joan T; Trainor, Paul A

    2016-07-01

    The mission of the Society for Craniofacial Genetics and Developmental Biology (SCGDB) is to promote education, research, and communication about normal and abnormal development of the tissues and organs of the head. The SCGDB welcomes as members undergraduate students, graduate students, post doctoral researchers, clinicians, orthodontists, scientists, and academicians who share an interest in craniofacial biology. Each year our members come together to share their novel findings, build upon, and challenge current knowledge of craniofacial biology. © 2016 Wiley Periodicals, Inc. PMID:27102868

  16. The oral and craniofacial relevance of chemically modified RNA therapeutics.

    PubMed

    Elangovan, Satheesh; Kormann, Michael S D; Khorsand, Behnoush; Salem, Aliasger K

    2016-01-01

    Several tissue engineering strategies in the form of protein therapy, gene therapy, cell therapy, and their combinations are currently being explored for oral and craniofacial regeneration and repair. Though each of these approaches has advantages, they all have common inherent drawbacks of being expensive and raising safety concerns. Using RNA (encoding therapeutic protein) has several advantages that have the potential to overcome these limitations. Chemically modifying the RNA improves its stability and mitigates immunogenicity allowing for the potential of RNA to become an alternative to protein and gene based therapies. This brief review article focuses on the potential of RNA therapeutics in the treatment of disorders in the oral and craniofacial regions. PMID:26896600

  17. Generation algorithm of craniofacial structure contour in cephalometric images

    NASA Astrophysics Data System (ADS)

    Mondal, Tanmoy; Jain, Ashish; Sardana, H. K.

    2010-02-01

    Anatomical structure tracing on cephalograms is a significant way to obtain cephalometric analysis. Computerized cephalometric analysis involves both manual and automatic approaches. The manual approach is limited in accuracy and repeatability. In this paper we have attempted to develop and test a novel method for automatic localization of craniofacial structure based on the detected edges on the region of interest. According to the grey scale feature at the different region of the cephalometric images, an algorithm for obtaining tissue contour is put forward. Using edge detection with specific threshold an improved bidirectional contour tracing approach is proposed by an interactive selection of the starting edge pixels, the tracking process searches repetitively for an edge pixel at the neighborhood of previously searched edge pixel to segment images, and then craniofacial structures are obtained. The effectiveness of the algorithm is demonstrated by the preliminary experimental results obtained with the proposed method.

  18. RSK2 Is a Modulator of Craniofacial Development

    PubMed Central

    Laugel-Haushalter, Virginie; Paschaki, Marie; Marangoni, Pauline; Pilgram, Coralie; Langer, Arnaud; Kuntz, Thibaut; Demassue, Julie; Morkmued, Supawich; Choquet, Philippe; Constantinesco, André; Bornert, Fabien; Schmittbuhl, Matthieu; Pannetier, Solange; Viriot, Laurent; Hanauer, André; Dollé, Pascal; Bloch-Zupan, Agnès

    2014-01-01

    Background The RSK2 gene is responsible for Coffin-Lowry syndrome, an X-linked dominant genetic disorder causing mental retardation, skeletal growth delays, with craniofacial and digital abnormalities typically associated with this syndrome. Craniofacial and dental anomalies encountered in this rare disease have been poorly characterized. Methodology/Principal Findings We examined, using X-Ray microtomographic analysis, the variable craniofacial dysmorphism and dental anomalies present in Rsk2 knockout mice, a model of Coffin-Lowry syndrome, as well as in triple Rsk1,2,3 knockout mutants. We report Rsk mutation produces surpernumerary teeth midline/mesial to the first molar. This highly penetrant phenotype recapitulates more ancestral tooth structures lost with evolution. Most likely this leads to a reduction of the maxillary diastema. Abnormalities of molar shape were generally restricted to the mesial part of both upper and lower first molars (M1). Expression analysis of the four Rsk genes (Rsk1, 2, 3 and 4) was performed at various stages of odontogenesis in wild-type (WT) mice. Rsk2 is expressed in the mesenchymal, neural crest-derived compartment, correlating with proliferative areas of the developing teeth. This is consistent with RSK2 functioning in cell cycle control and growth regulation, functions potentially responsible for severe dental phenotypes. To uncover molecular pathways involved in the etiology of these defects, we performed a comparative transcriptomic (DNA microarray) analysis of mandibular wild-type versus Rsk2-/Y molars. We further demonstrated a misregulation of several critical genes, using a Rsk2 shRNA knock-down strategy in molar tooth germs cultured in vitro. Conclusions This study reveals RSK2 regulates craniofacial development including tooth development and patterning via novel transcriptional targets. PMID:24416220

  19. Versatility of Distraction Osteogenesis for the Craniofacial Skeleton.

    PubMed

    Klement, Kristen A; Black, Jonathan S; Denny, Arlen D

    2016-05-01

    Malformations of the craniofacial skeleton are common. Restoration of anatomic shape, size, and position has been traditionally accomplished using autologous bone grafting to fill gaps created by surgery and segmental movement. The authors present their practice using distraction in many different ages and settings over 20 years. A retrospective review was performed of all craniofacial patients treated using distraction osteogenesis for mandible, midface, and calvarium. The authors identified 205 patient. Mandible: 112 patients were treated at an average age of 3.4 years. 18.8% of patients required repeat distraction. There was no difference in the neonatal versus older group (P = 0.71). There were significantly higher reoperation rates in syndromic children (P < 0.01). Midface: 58 patients underwent Lefort III distraction at an average age of 13.6 years. One (1.7%) required repeat distraction (Miller syndrome). Five (8.6%) patients underwent subsequent Lefort I advancement for occlusal changes. Calvarium: 33 patients were treated at an average age of 4.7 years. No repeat distractions were performed. One patient required an additional advancement procedure. Distraction demonstrates successful long-term correction of defects in the craniofacial skeleton with the versatility and control needed to treat the wide spectrum of deformity. PMID:26999694

  20. Study on the performance of different craniofacial superimposition approaches (I).

    PubMed

    Ibáñez, O; Vicente, R; Navega, D S; Wilkinson, C; Jayaprakash, P T; Huete, M I; Briers, T; Hardiman, R; Navarro, F; Ruiz, E; Cavalli, F; Imaizumi, K; Jankauskas, R; Veselovskaya, E; Abramov, A; Lestón, P; Molinero, F; Cardoso, J; Çağdır, A S; Humpire, D; Nakanishi, Y; Zeuner, A; Ross, A H; Gaudio, D; Damas, S

    2015-12-01

    As part of the scientific tasks coordinated throughout The 'New Methodologies and Protocols of Forensic Identification by Craniofacial Superimposition (MEPROCS)' project, the current study aims to analyse the performance of a diverse set of CFS methodologies and the corresponding technical approaches when dealing with a common dataset of real-world cases. Thus, a multiple-lab study on craniofacial superimposition has been carried out for the first time. In particular, 26 participants from 17 different institutions in 13 countries were asked to deal with 14 identification scenarios, some of them involving the comparison of multiple candidates and unknown skulls. In total, 60 craniofacial superimposition problems divided in two set of females and males. Each participant follow her/his own methodology and employed her/his particular technological means. For each single case they were asked to report the final identification decision (either positive or negative) along with the rationale supporting the decision and at least one image illustrating the overlay/superimposition outcome. This study is expected to provide important insights to better understand the most convenient characteristics of every method included in this study. PMID:26060056

  1. Unmasking the ciliopathies: craniofacial defects and the primary cilium.

    PubMed

    Cortés, Claudio R; Metzis, Vicki; Wicking, Carol

    2015-01-01

    Over the past decade, the primary cilium has emerged as a pivotal sensory organelle that acts as a major signaling hub for a number of developmental signaling pathways. In that time, a vast number of proteins involved in trafficking and signaling have been linked to ciliary assembly and/or function, demonstrating the importance of this organelle during embryonic development. Given the central role of the primary cilium in regulating developmental signaling, it is not surprising that its dysfunction results in widespread defects in the embryo, leading to an expanding class of human congenital disorders known as ciliopathies. These disorders are individually rare and phenotypically variable, but together they affect virtually every vertebrate organ system. Features of ciliopathies that are often overlooked, but which are being reported with increasing frequency, are craniofacial abnormalities, ranging from subtle midline defects to full-blown orofacial clefting. The challenge moving forward is to understand the primary mechanism of disease given the link between the primary cilium and a number of developmental signaling pathways (such as hedgehog, platelet-derived growth factor, and WNT signaling) that are essential for craniofacial development. Here, we provide an overview of the diversity of craniofacial abnormalities present in the ciliopathy spectrum, and reveal those defects in common across multiple disorders. Further, we discuss the molecular defects and potential signaling perturbations underlying these anomalies. This provides insight into the mechanisms leading to ciliopathy phenotypes more generally and highlights the prevalence of widespread dysmorphologies resulting from cilia dysfunction. PMID:26173831

  2. Web-based cephalometric procedure for craniofacial and dentition analyses

    NASA Astrophysics Data System (ADS)

    Arun Kumar, N. S.; Kamath, Srijit R.; Ram, S.; Muthukumaran, B.; Venkatachalapathy, A.; Nandakumar, A.; Jayakumar, P.

    2000-05-01

    Craniofacial analysis is a very important and widely used procedure in orthodontic caphalometry, which plays a key role in diagnosis and treatment planning. This involves establishing reference standards and specification of landmarks and variables. The manual approach takes up a tremendous amount of the orthodontist's time. In this paper, we developed a web-based approach for the craniofacial and dentition analyses. A digital computed radiography (CR) system is utilized for obtaining the craniofacial image, which is stored as a bitmap file. The system comprises of two components - a server and a client. The server component is a program that runs on a remote machine. To use the system, the user has to connect to the website. The client component is now activated, which uploads the image from the PC and displays it on the canvas area. The landmarks are identified using a mouse interface. The reference lines are generated. The resulting image is then sent to the server which performs all measurement and calculates the mean, standard deviation, etc. of the variables. The results generated are sent immediately to the client where it is displayed on a separate frame along with the standard values for comparison. This system eliminates the need for every user to load other expensive programs on his machine.

  3. A review of craniofacial disorders caused by spliceosomal defects.

    PubMed

    Lehalle, D; Wieczorek, D; Zechi-Ceide, R M; Passos-Bueno, M R; Lyonnet, S; Amiel, J; Gordon, C T

    2015-11-01

    The spliceosome is a large ribonucleoprotein complex that removes introns from pre-mRNA transcripts. Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial dysostosis, Guion-Almeida type (MFDGA), characterized by mandibulofacial dysostosis, microcephaly, external ear malformations and intellectual disability. Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified in human disorders with specific craniofacial malformations: SF3B4 in Nager syndrome, an acrofacial dysostosis (AFD); SNRPB in cerebrocostomandibular syndrome, characterized by Robin sequence and rib defects; EIF4A3 in the AFD Richieri-Costa-Pereira syndrome, characterized by Robin sequence, median mandibular cleft and limb defects; and TXNL4A in Burn-McKeown syndrome, involving specific craniofacial dysmorphisms. Here, we review phenotypic and molecular aspects of these syndromes. Given the apparent sensitivity of craniofacial development to defects in mRNA processing, it is possible that mutations in other proteins involved in spliceosomal function will emerge in the future as causative for related human disorders. PMID:25865758

  4. Growth changes in internal and craniofacial flexion measurements.

    PubMed

    May, R; Sheffer, D B

    1999-09-01

    Growth changes in both internal and craniofacial flexion angles are presented for Pan troglodytes, Gorilla gorilla, and modern humans. The internal flexion angle (IFA) was measured from lateral radiographs, and the craniofacial flexion angle (CFA) was calculated from coordinate data. Stage of dental development is used as a baseline for examination of growth changes and nonparametric correlations between flexion angles and dental development stage are tested for significance. In Gorilla, the IFA increases during growth. The IFA is relatively stable in Pan and modern humans. Pan and Gorilla display an increase in the CFA. However, this angle decreases during growth in modern humans. Flexion angles were derived from coordinate data collected for several early hominid crania. Measurements for two robust australopithecine crania indicate strong internal flexion. It has been suggested that cerebellar expansion in this group may relate to derived features of the posterior cranial base. In general, australopithecine crania exhibit craniofacial flexion intermediate between great apes and modern humans. The "archaic" Homo sapiens specimen from Kabwe is most similar to modern humans. PMID:10490467

  5. Latest Research from NIH's National Institute of Dental and Craniofacial Research | NIH MedlinePlus the Magazine

    MedlinePlus

    ... Health Latest Research from NIH's National Institute of Dental and Craniofacial Research Past Issues / Summer 2012 Table ... D., is director of NIH's National Institute of Dental and Craniofacial Research (NIDCR). The NIH's National Institute ...

  6. Dissociation of Subtraction and Multiplication in the Right Parietal Cortex: Evidence from Intraoperative Cortical Electrostimulation

    ERIC Educational Resources Information Center

    Yu, Xiaodan; Chen, Chuansheng; Pu, Song; Wu, Chenxing; Li, Yongnian; Jiang, Tao; Zhou, Xinlin

    2011-01-01

    Previous research has consistently shown that the left parietal cortex is critical for numerical processing, but the role of the right parietal lobe has been much less clear. This study used the intraoperative cortical electrical stimulation approach to investigate neural dissociation in the right parietal cortex for subtraction and…

  7. Overlapping Parietal Activity in Memory and Perception: Evidence for the Attention to Memory Model

    ERIC Educational Resources Information Center

    Cabeza, Roberto; Mazuz, Yonatan S.; Stokes, Jared; Kragel, James E.; Woldorff, Marty G.; Ciaramelli, Elisa; Olson, Ingrid R.; Moscovitch, Morris

    2011-01-01

    The specific role of different parietal regions to episodic retrieval is a topic of intense debate. According to the Attention to Memory (AtoM) model, dorsal parietal cortex (DPC) mediates top-down attention processes guided by retrieval goals, whereas ventral parietal cortex (VPC) mediates bottom-up attention processes captured by the retrieval…

  8. Optic ataxia: from Balint's syndrome to the parietal reach region.

    PubMed

    Andersen, Richard A; Andersen, Kristen N; Hwang, Eun Jung; Hauschild, Markus

    2014-03-01

    Optic ataxia is a high-order deficit in reaching to visual goals that occurs with posterior parietal cortex (PPC) lesions. It is a component of Balint's syndrome that also includes attentional and gaze disorders. Aspects of optic ataxia are misreaching in the contralesional visual field, difficulty preshaping the hand for grasping, and an inability to correct reaches online. Recent research in nonhuman primates (NHPs) suggests that many aspects of Balint's syndrome and optic ataxia are a result of damage to specific functional modules for reaching, saccades, grasp, attention, and state estimation. The deficits from large lesions in humans are probably composite effects from damage to combinations of these functional modules. Interactions between these modules, either within posterior parietal cortex or downstream within frontal cortex, may account for more complex behaviors such as hand-eye coordination and reach-to-grasp. PMID:24607223

  9. Neuronal oscillations form parietal/frontal networks during contour integration

    PubMed Central

    Castellano, Marta; Plöchl, Michael; Vicente, Raul; Pipa, Gordon

    2014-01-01

    The ability to integrate visual features into a global coherent percept that can be further categorized and manipulated are fundamental abilities of the neural system. While the processing of visual information involves activation of early visual cortices, the recruitment of parietal and frontal cortices has been shown to be crucial for perceptual processes. Yet is it not clear how both cortical and long-range oscillatory activity leads to the integration of visual features into a coherent percept. Here, we will investigate perceptual grouping through the analysis of a contour categorization task, where the local elements that form contour must be linked into a coherent structure, which is then further processed and manipulated to perform the categorization task. The contour formation in our visual stimulus is a dynamic process where, for the first time, visual perception of contours is disentangled from the onset of visual stimulation or from motor preparation, cognitive processes that until now have been behaviorally attached to perceptual processes. Our main finding is that, while local and long-range synchronization at several frequencies seem to be an ongoing phenomena, categorization of a contour could only be predicted through local oscillatory activity within parietal/frontal sources, which in turn, would synchronize at gamma (>30 Hz) frequency. Simultaneously, fronto-parietal beta (13–30 Hz) phase locking forms a network spanning across neural sources that are not category specific. Both long range networks, i.e., the gamma network that is category specific, and the beta network that is not category specific, are functionally distinct but spatially overlapping. Altogether, we show that a critical mechanism underlying contour categorization involves oscillatory activity within parietal/frontal cortices, as well as its synchronization across distal cortical sites. PMID:25165437

  10. [The endocranial parietal vascular traces in the hominid line].

    PubMed

    Saban, R

    1977-03-01

    The study of the grooves traced by the middle meningeal veins on the parietal bone or the endocast of Hominid fossils shows different patterns which correspond to each evolutive stage. Height types are characterised among the Hominids (Australopithecines, Archanthropines, Paleanthropines and Neanthropines): I, robust Australopithecine type; II, gracile Australopithecine type; III, earliest Pithecanthropine type; IV, evolved Pithecanthropine type; V, Preneandertal type; VI, neandertal type; VII, Neanthropine type; VIII, modern type. PMID:405108

  11. Early recurrence and ongoing parietal driving during elementary visual processing.

    PubMed

    Plomp, Gijs; Hervais-Adelman, Alexis; Astolfi, Laura; Michel, Christoph M

    2015-01-01

    Visual stimuli quickly activate a broad network of brain areas that often show reciprocal structural connections between them. Activity at short latencies (<100 ms) is thought to represent a feed-forward activation of widespread cortical areas, but fast activation combined with reciprocal connectivity between areas in principle allows for two-way, recurrent interactions to occur at short latencies after stimulus onset. Here we combined EEG source-imaging and Granger-causal modeling with high temporal resolution to investigate whether recurrent and top-down interactions between visual and attentional brain areas can be identified and distinguished at short latencies in humans. We investigated the directed interactions between widespread occipital, parietal and frontal areas that we localized within participants using fMRI. The connectivity results showed two-way interactions between area MT and V1 already at short latencies. In addition, the results suggested a large role for lateral parietal cortex in coordinating visual activity that may be understood as an ongoing top-down allocation of attentional resources. Our results support the notion that indirect pathways allow early, evoked driving from MT to V1 to highlight spatial locations of motion transients, while influence from parietal areas is continuously exerted around stimulus onset, presumably reflecting task-related attentional processes. PMID:26692466

  12. Early recurrence and ongoing parietal driving during elementary visual processing

    PubMed Central

    Plomp, Gijs; Hervais-Adelman, Alexis; Astolfi, Laura; Michel, Christoph M.

    2015-01-01

    Visual stimuli quickly activate a broad network of brain areas that often show reciprocal structural connections between them. Activity at short latencies (<100 ms) is thought to represent a feed-forward activation of widespread cortical areas, but fast activation combined with reciprocal connectivity between areas in principle allows for two-way, recurrent interactions to occur at short latencies after stimulus onset. Here we combined EEG source-imaging and Granger-causal modeling with high temporal resolution to investigate whether recurrent and top-down interactions between visual and attentional brain areas can be identified and distinguished at short latencies in humans. We investigated the directed interactions between widespread occipital, parietal and frontal areas that we localized within participants using fMRI. The connectivity results showed two-way interactions between area MT and V1 already at short latencies. In addition, the results suggested a large role for lateral parietal cortex in coordinating visual activity that may be understood as an ongoing top-down allocation of attentional resources. Our results support the notion that indirect pathways allow early, evoked driving from MT to V1 to highlight spatial locations of motion transients, while influence from parietal areas is continuously exerted around stimulus onset, presumably reflecting task-related attentional processes. PMID:26692466

  13. Bottom-up Visual Integration in the Medial Parietal Lobe.

    PubMed

    Pflugshaupt, Tobias; Nösberger, Myriam; Gutbrod, Klemens; Weber, Konrad P; Linnebank, Michael; Brugger, Peter

    2016-03-01

    Largely based on findings from functional neuroimaging studies, the medial parietal lobe is known to contribute to internally directed cognitive processes such as visual imagery or episodic memory. Here, we present 2 patients with behavioral impairments that extend this view. Both had chronic unilateral lesions of nearly the entire medial parietal lobe, but in opposite hemispheres. Routine neuropsychological examination conducted >4 years after the onset of brain damage showed little deficits of minor severity. In contrast, both patients reported persistent unusual visual impairment. A comprehensive series of tachistoscopic experiments with lateralized stimulus presentation and comparison with healthy participants revealed partial visual hemiagnosia for stimuli presented to their contralesional hemifield, applying inferential single-case statistics to evaluate deficits and dissociations. Double dissociations were found in 4 experiments during which participants had to integrate more than one visual element, either through comparison or formation of a global gestalt. Against the background of recent neuroimaging findings, we conclude that of all medial parietal structures, the precuneus is the most likely candidate for a crucial involvement in such bottom-up visual integration. PMID:25331599

  14. 76 FR 4123 - National Institute of Dental & Craniofacial Research; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-01-24

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research... personal privacy. Name of Committee: National Institute of Dental and Craniofacial Research Special Emphasis Panel, ZDE1 VH (13) NIDCR Review of Small Research Grants for Data Analysis and...

  15. 75 FR 82033 - National Institute of Dental and Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-12-29

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental and Craniofacial Research.... App.), notice is hereby given of a meeting of the National Advisory Dental and Craniofacial Research... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Advisory...

  16. 75 FR 13561 - National Institute of Dental & Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-22

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research.... App.), notice is hereby given of a meeting of the National Advisory Dental and Craniofacial Research... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Advisory...

  17. 75 FR 4833 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-01-29

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research.... of Dental & Craniofacial Research, National Institutes of Health, 45 Center Dr., Rm 4AN 32J,...

  18. 75 FR 55592 - National Institute of Dental & Craniofacial Research; Amended Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-09-13

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research... Dental and Craniofacial Research Council, September 27, 2010, 8:30 a.m. to September 27, 2010, 3...

  19. 78 FR 65343 - National Institute of Dental & Craniofacial Research; Amended Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-10-31

    ... published in the Federal Register on September 16, 2013, 78 FR 56902. Meeting date has changed from October... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research... Dental and Craniofacial Research Special Emphasis Panel, October 7, 2013, 10:00 a.m. to October 7,...

  20. 77 FR 49820 - National Institute of Dental & Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-08-17

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research.... App.), notice is hereby given of a meeting of the National Advisory Dental and Craniofacial Research... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Advisory...

  1. 75 FR 62546 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-12

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research..., National Inst of Dental & Craniofacial Research, National Institutes of Health, 45 Center Dr. Rm 4AN...

  2. 78 FR 50066 - National Institute of Dental and Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-08-16

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental and Craniofacial Research.... App.), notice is ] hereby given of a meeting of the National Advisory Dental and Craniofacial Research... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Advisory...

  3. 78 FR 24761 - National Institute of Dental & Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-04-26

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research.... App.), notice is hereby given of a meeting of the National Advisory Dental and Craniofacial Research... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Advisory...

  4. 76 FR 23612 - National Institute of Dental & Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-04-27

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research.... App.), notice is hereby given of a meeting of the National Advisory Dental and Craniofacial Research... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Advisory...

  5. 76 FR 51995 - National Institute of Dental & Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-08-19

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research.... App.), notice is hereby given of a meeting of the National Advisory Dental and Craniofacial Research... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Advisory...

  6. 76 FR 48874 - National Institute Of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-08-09

    ... HUMAN SERVICES National Institutes of Health National Institute Of Dental & Craniofacial Research... personal privacy. Name of Committee: National Institute of Dental and Craniofacial Research Special Emphasis Panel, Review of RFA-DE-12-002; National Dental Practice-based Research, Network...

  7. 78 FR 65348 - National Institute of Dental & Craniofacial Research; Amended Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-10-31

    ..., MD 20892 which was published in the Federal Register on September 27, 2013, 78 FR 59708. Meeting date... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research... Dental and Craniofacial Research Special Emphasis Panel, October 21, 2013, 9:00 a.m. to October 21,...

  8. 77 FR 74674 - National Institute of Dental & Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-12-17

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research.... App.), notice is hereby given of a meeting of the National Advisory Dental and Craniofacial Research... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Advisory...

  9. 75 FR 51275 - National Institute of Dental and Craniofacial Research; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-08-19

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental and Craniofacial Research.... App.), notice is hereby given of a meeting of the National Advisory Dental and Craniofacial Research... constitute a clearly unwarranted invasion of personal privacy. Name of Committee: National Advisory...

  10. Scene-Selectivity and Retinotopy in Medial Parietal Cortex.

    PubMed

    Silson, Edward H; Steel, Adam D; Baker, Chris I

    2016-01-01

    Functional imaging studies in human reliably identify a trio of scene-selective regions, one on each of the lateral [occipital place area (OPA)], ventral [parahippocampal place area (PPA)], and medial [retrosplenial complex (RSC)] cortical surfaces. Recently, we demonstrated differential retinotopic biases for the contralateral lower and upper visual fields within OPA and PPA, respectively. Here, using functional magnetic resonance imaging, we combine detailed mapping of both population receptive fields (pRF) and category-selectivity, with independently acquired resting-state functional connectivity analyses, to examine scene and retinotopic processing within medial parietal cortex. We identified a medial scene-selective region, which was contained largely within the posterior and ventral bank of the parieto-occipital sulcus (POS). While this region is typically referred to as RSC, the spatial extent of our scene-selective region typically did not extend into retrosplenial cortex, and thus we adopt the term medial place area (MPA) to refer to this visually defined scene-selective region. Intriguingly MPA co-localized with a region identified solely on the basis of retinotopic sensitivity using pRF analyses. We found that MPA demonstrates a significant contralateral visual field bias, coupled with large pRF sizes. Unlike OPA and PPA, MPA did not show a consistent bias to a single visual quadrant. MPA also co-localized with a region identified by strong differential functional connectivity with PPA and the human face-selective fusiform face area (FFA), commensurate with its functional selectivity. Functional connectivity with OPA was much weaker than with PPA, and similar to that with face-selective occipital face area (OFA), suggesting a closer link with ventral than lateral cortex. Consistent with prior research, we also observed differential functional connectivity in medial parietal cortex for anterior over posterior PPA, as well as a region on the lateral

  11. Scene-Selectivity and Retinotopy in Medial Parietal Cortex

    PubMed Central

    Silson, Edward H.; Steel, Adam D.; Baker, Chris I.

    2016-01-01

    Functional imaging studies in human reliably identify a trio of scene-selective regions, one on each of the lateral [occipital place area (OPA)], ventral [parahippocampal place area (PPA)], and medial [retrosplenial complex (RSC)] cortical surfaces. Recently, we demonstrated differential retinotopic biases for the contralateral lower and upper visual fields within OPA and PPA, respectively. Here, using functional magnetic resonance imaging, we combine detailed mapping of both population receptive fields (pRF) and category-selectivity, with independently acquired resting-state functional connectivity analyses, to examine scene and retinotopic processing within medial parietal cortex. We identified a medial scene-selective region, which was contained largely within the posterior and ventral bank of the parieto-occipital sulcus (POS). While this region is typically referred to as RSC, the spatial extent of our scene-selective region typically did not extend into retrosplenial cortex, and thus we adopt the term medial place area (MPA) to refer to this visually defined scene-selective region. Intriguingly MPA co-localized with a region identified solely on the basis of retinotopic sensitivity using pRF analyses. We found that MPA demonstrates a significant contralateral visual field bias, coupled with large pRF sizes. Unlike OPA and PPA, MPA did not show a consistent bias to a single visual quadrant. MPA also co-localized with a region identified by strong differential functional connectivity with PPA and the human face-selective fusiform face area (FFA), commensurate with its functional selectivity. Functional connectivity with OPA was much weaker than with PPA, and similar to that with face-selective occipital face area (OFA), suggesting a closer link with ventral than lateral cortex. Consistent with prior research, we also observed differential functional connectivity in medial parietal cortex for anterior over posterior PPA, as well as a region on the lateral

  12. Magnesium Alloys as a Biomaterial for Degradable Craniofacial Screws

    PubMed Central

    Henderson, Sarah E.; Verdelis, Konstantinos; Maiti, Spandan; Pal, Siladitya; Chung, William L.; Chou, Da-Tren; Kumta, Prashant N.; Almarza, Alejandro J.

    2014-01-01

    Recently, magnesium (Mg) alloys have received significant attention as a potential biomaterial for degradable implants, and this study was directed at evaluating the suitability of Mg for craniofacial bone screws. The objective was to implant screws fabricated from commercially available Mg-alloys (pure Mg and AZ31) in-vivo in a rabbit mandible. First, Mg-alloy screws were compared to stainless steel screws in an in-vitro pull-out test and determined to have a similar holding strength (~40N). A finite element model of the screw was created using the pull-out test data, and the model can be used for future Mg-alloy screw design. Then, Mg-alloy screws were implanted for 4, 8, and 12 weeks, with two controls of an osteotomy site (hole) with no implant and a stainless steel screw implanted for 12 weeks. MicroCT (computed tomography) was used to assess bone remodeling and Mg-alloy degradation, both visually and qualitatively through volume fraction measurements for all time points. Histologic analysis was also completed for the Mg-alloys at 12 weeks. The results showed that craniofacial bone remodeling occurred around both Mg-alloy screw types. Pure Mg had a different degradation profile than AZ31, however bone growth occurred around both screw types. The degradation rate of both Mg-alloy screw types in the bone marrow space and the muscle were faster than in the cortical bone space at 12 weeks. Furthermore, it was shown that by alloying Mg, the degradation profile could be changed. These results indicate the promise of using Mg-alloys for craniofacial applications. PMID:24384125

  13. SP8 regulates signaling centers during craniofacial development.

    PubMed

    Kasberg, Abigail D; Brunskill, Eric W; Steven Potter, S

    2013-09-15

    Much of the bone, cartilage and smooth muscle of the vertebrate face is derived from neural crest (NC) cells. During craniofacial development, the anterior neural ridge (ANR) and olfactory pit (OP) signaling centers are responsible for driving the outgrowth, survival, and differentiation of NC populated facial prominences, primarily via FGF. While much is known about the functional importance of signaling centers, relatively little is understood of how these signaling centers are made and maintained. In this report we describe a dramatic craniofacial malformation in mice mutant for the zinc finger transcription factor gene Sp8. At E14.5 they show facial prominences that are reduced in size and underdeveloped, giving an almost faceless phenotype. At later times they show severe midline defects, excencephaly, hyperterlorism, cleft palate, and a striking loss of many NC and paraxial mesoderm derived cranial bones. Sp8 expression was primarily restricted to the ANR and OP regions during craniofacial development. Analysis of an extensive series of conditional Sp8 mutants confirmed the critical role of Sp8 in signaling centers, and not directly in the NC and paraxial mesoderm cells. The NC cells of the Sp8 mutants showed increased levels of apoptosis and decreased cell proliferation, thereby explaining the reduced sizes of the facial prominences. Perturbed gene expression in the Sp8 mutants was examined by laser capture microdissection coupled with microarrays, as well as in situ hybridization and immunostaining. The most dramatic differences included striking reductions in Fgf8 and Fgf17 expression in the ANR and OP signaling centers. We were also able to achieve genetic and pharmaceutical partial rescue of the Sp8 mutant phenotype by reducing Sonic Hedgehog (SHH) signaling. These results show that Sp8 primarily functions to promote Fgf expression in the ANR and OP signaling centers that drive the survival, proliferation, and differentiation of the NC and paraxial

  14. SP8 regulates signaling centers during craniofacial development

    PubMed Central

    Kasberg, Abigail D.; Brunskill, Eric W.; Potter, S. Steven

    2014-01-01

    Much of the bone, cartilage and smooth muscle of the vertebrate face is derived from neural crest (NC) cells. During craniofacial development, the anterior neural ridge (ANR) and olfactory pit (OP) signaling centers are responsible for driving the outgrowth, survival, and differentiation of NC populated facial prominences, primarily via FGF. While much is known about the functional importance of signaling centers, relatively little is understood of how these signaling centers are made and maintained. In this report we describe a dramatic craniofacial malformation in mice mutant for the zinc finger transcription factor gene Sp8. At E14.5 they show facial prominences that are reduced in size and underdeveloped, giving an almost faceless phenotype. At later times they show severe midline defects, excencephaly, hyperterlorism, cleft palate, and a striking loss of many NC and paraxial mesoderm derived cranial bones. Sp8 expression was primarily restricted to the ANR and OP regions during craniofacial development. Analysis of an extensive series of conditional Sp8 mutants confirmed the critical role of Sp8 in signaling centers, and not directly in the NC and paraxial mesoderm cells. The NC cells of the Sp8 mutants showed increased levels of apoptosis and decreased cell proliferation, thereby explaining the reduced sizes of the facial prominences. Perturbed gene expression in the Sp8 mutants was examined by laser capture microdissection coupled with microarrays, as well as in situ hybridization and immunostaining. The most dramatic differences included striking reductions in Fgf8 and Fgf17 expression in the ANR and OP signaling centers. We were also able to achieve genetic and pharmaceutical partial rescue of the Sp8 mutant phenotype by reducing Sonic Hedgehog (SHH) signaling. These results show that Sp8 primarily functions to promote Fgf expression in the ANR and OP signaling centers that drive the survival, proliferation, and differentiation of the NC and paraxial

  15. Antibacterial coating on biocomposites for cranio-facial reconstruction

    PubMed Central

    LAZAR, MADALINA ANCA; VODNAR, DAN; PRODAN, DOINA; ROTARU, HORATIU; ROMAN, CALIN RARES; SORCOI, LIDIA ADRIANA; BACIUT, GRIGORE; CAMPIAN, RADU SEPTIMIU

    2016-01-01

    Background and aims Despite the fact that implants are sterilized, antiseptic techniques are applied and systemic antibiotics are routinely administered prior to and after craniofacial surgery, infection rates between 3% and 40% are still reported for alloplastic implants, urging for implant removal. The present study focuses on the development of a fiber-reinforced composite (FRC) implant for craniofacial reconstruction with antimicrobial properties. Methods A new fiber-reinforced composite coated with gentamicin was developed and tested for bacterial adherence and antibacterial efficiency, using two of the most involved bacterial strains in the postoperative infections: Staphylococcus aureus and Pseudomonas aeruginosa. Results Bacteria were efficiently inactivated in direct contact with gentamicin coatings (p<0.05). The inhibition zone for Staphylococcus aureus ranged from 17.21 mm to 20.13 mm and for Pseudomonas aeruginosa ranged from 12.93 mm to 15.33 mm. Although no significant statistical results were found for bacterial adhesion and gentamicin concentration, (Staphylococcus aureus: β= −0.974; p=0.144>0.05 and Pseudomonas aeruginosa: β = −0.921; p=0.255>0.05), a negative relation was observed, indicating the reversed relation between the antibiotic dosage and the bacterial adherence. Conclusion The results of the two applied microbiological protocols used in the study suggested that gentamicin eluting coating inhibited not only the bacterial growth, but also led to a lower initial bacterial adhesion to the surface of the implant. Thus, antibiotic coating of craniofacial implants may reduce the infection rate related to reconstructive surgery. PMID:27547065

  16. First molar health status in different craniofacial relationships

    PubMed Central

    Linjawi, Amal I

    2016-01-01

    Objective To investigate the association between the health status of permanent first molars and different craniofacial relationships among adolescents. Study design This is a retrospective study on patients’ records aged 11–15 years. Sex, skeletal relationship, vertical growth pattern, malocclusion, overjet, and overbite were assessed. The health status of permanent first molars was recorded from the orthopantomograms and intraoral photographs as “sound” and “not sound”. Chi-square, Mann–Whitney U and Kruskal–Wallis tests, and Pearson’s correlation coefficient were used to analyze and correlate the assessed variables. Significance level was set at P<0.05. Results A total of 210 records were evaluated; 81 were male, 68 had Class I and 91 had Class II skeletal relationships. More than half of the subjects had normal (n=67) to moderate deep bite (n=72); normal (n=91), moderately increased (n=54), to severely increased (n=50) overjet; and Class I (n=106) and Class II division 1 (n=75) malocclusion. Significant differences were found in the health status of the permanent first molars with respect to sex (P=0.034), vertical growth pattern (P=0.01), and overbite (P=0.047). Strong correlations were only found between the health status of the permanent first molars and the following variables: sex (P=0.036) and vertical growth pattern (P=0.004). Significant correlation was further found between the upper left first molar health status and sex (P=0.019) and the lower right first molar health status and the vertical growth pattern (P=0.001). No significant association was found with the anteroposterior craniofacial relationships (P>0.05). Conclusion Sex difference and vertical growth patterns were found to be potential predictors of the health status of the permanent first molars. No significant association was found with the anteroposterior craniofacial relationships. PMID:27462176

  17. A bivariate approach to the variation of the parietal curvature in the genus homo.

    PubMed

    Bruner, Emiliano; De La Cuétara, José Manuel; Holloway, Ralph

    2011-09-01

    The parietal bones approximately cover the extension of the underlying parietal lobes. Although the boundaries of these two anatomical elements do not coincide, during morphogenesis the growth of the parietal bones is largely induced by the pressure exerted by the parietal lobes. Modern humans display larger parietal chords and arcs compared with non-modern human species. However, the variation of these variables have not been analyzed before according to the covariation with the general endocranial diameters. When the curvature of the parietal bones is regressed onto the main neurocranial distances, modern humans show larger relative values, suggesting not only an absolute enlargement but a definite allometric change. Taking into account the morphogenetic relationships with the parietal lobes, these results further support previous hypotheses suggesting a relative enlargement of these cortical areas in Homo sapiens, by using simple and reliable homologous neurocranial arcs. PMID:21809464

  18. Single gene disorders with craniofacial and oral manifestations.

    PubMed

    Patil, Shankargouda; Rao, Roopa S; Majumdar, Barnali

    2014-01-01

    Gene and environmental factors are instrumental in genesis of complex and wide range of disorders and syndromes. The newer gene sequencing and other advanced technologies have made our previous knowledge of genetic etiopathogenesis of various disorders more transparent. Single gene disorders refer to the disorders caused due to mutations in a single gene and a fair number of these manifest as craniofacial defects and anomalies. This review is an attempt to give a detailed insight into the varied single gene disorders and syndromes with an emphasis on dental implications. PMID:25707843

  19. An image processing system for locating craniofacial landmarks

    SciTech Connect

    Cardillo, J.; Sid-Ahmed, M.A. . Dept. of Electrical Engineering)

    1994-06-01

    A new automatic target recognition algorithm has been developed to extract craniofacial landmarks from lateral skull x-rays (cephalograms). The locations of these landmarks are used by orthodontists in what is referred to as a cephalometric evaluation. The evaluation assists in the diagnosis of anomalies and in the monitoring of treatments. The algorithm is based on gray-scale mathematical morphology. A statistical approach to training was used to overcome subtle differences in skeletal topographies. Decomposition was used to desensitize the algorithm to size differences. A system was trained to locate 20 landmarks. Tests on 40 x-rays showed an 85% recognition rate on average.

  20. Measuring outcomes in craniofacial and pediatric plastic surgery.

    PubMed

    Wong, Karen W Y; Forrest, Christopher R; Goodacre, Tim E E; Klassen, Anne F

    2013-04-01

    This article discusses the measurement of outcomes in craniofacial and pediatric plastic surgery, using examples of craniosynostosis and cleft lip and/or palate (CLP). The challenges in measuring the standard outcomes of function, aesthetics, and health-related quality of life are discussed, along with the importance of developing evidence and studying quality improvement in this specialty. The need to define specific and comprehensive goals is discussed with a focus on patient-reported outcomes (PROs). Examples from the development of the CLEFT-Q, a PRO instrument for patients with CLP, are provided to support the need to seek the patient perspective. PMID:23506771

  1. Syndecan-1 in the Mouse Parietal Peritoneum Microcirculation in Inflammation

    PubMed Central

    Kowalewska, Paulina M.; Patrick, Amanda L.; Fox-Robichaud, Alison E.

    2014-01-01

    Background The heparan sulfate proteoglycan syndecan-1 (CD138) was shown to regulate inflammatory responses by binding chemokines and cytokines and interacting with adhesion molecules, thereby modulating leukocyte trafficking to tissues. The objectives of this study were to examine the expression of syndecan-1 and its role in leukocyte recruitment and chemokine presentation in the microcirculation underlying the parietal peritoneum. Methods Wild-type BALB/c and syndecan-1 null mice were stimulated with an intraperitoneal injection of Staphylococcus aureus LTA, Escherichia coli LPS or TNFα and the microcirculation of the parietal peritoneum was examined by intravital microscopy after 4 hours. Fluorescence confocal microscopy was used to examine syndecan-1 expression in the peritoneal microcirculation using fluorescent antibodies. Blocking antibodies to adhesion molecules were used to examine the role of these molecules in leukocyte-endothelial cell interactions in response to LTA. To determine whether syndecan-1 co-localizes with chemokines in vivo, fluorescent antibodies to syndecan-1 were co-injected intravenously with anti-MIP-2 (CXCL2), anti-KC (CXCL1) or anti-MCP-1 (CCL2). Results and Conclusion Syndecan-1 was localized to the subendothelial region of peritoneal venules and the mesothelial layer. Leukocyte rolling was significantly decreased with LPS treatment while LTA and TNFα significantly increased leukocyte adhesion compared with saline control. Leukocyte-endothelial cell interactions were not different in syndecan-1 null mice. Antibody blockade of β2 integrin (CD18), ICAM-1 (CD54) and VCAM-1 (CD106) did not decrease leukocyte adhesion in response to LTA challenge while blockade of P-selectin (CD62P) abrogated leukocyte rolling. Lastly, MIP-2 expression in the peritoneal venules was not dependent on syndecan-1 in vivo. Our data suggest that syndecan-1 is expressed in the parietal peritoneum microvasculature but does not regulate leukocyte recruitment

  2. Wnt Signaling and Its Contribution to Craniofacial Tissue Homeostasis.

    PubMed

    Yin, X; Li, J; Salmon, B; Huang, L; Lim, W H; Liu, B; Hunter, D J; Ransom, R C; Singh, G; Gillette, M; Zou, S; Helms, J A

    2015-11-01

    A new field of dental medicine seeks to exploit nature's solution for repairing damaged tissues, through the process of regeneration. Most adult mammalian tissues have limited regenerative capacities, but in lower vertebrates, the molecular machinery for regeneration is an elemental part of their genetic makeup. Accumulating data suggest that the molecular pathways responsible for the regenerative capacity of teleosts, amphibians, and reptiles have fallen into disuse in mammals but that they can be "jumpstarted" by the selective activation of key molecules. The Wnt family of secreted proteins constitutes one such critical pathway: Wnt proteins rank among the most potent and ubiquitous stem cell self-renewing factors, with tremendous potential for promoting human tissue regeneration. Wnt reporter and lineage-tracing strains of mice have been employed to create molecular maps of Wnt responsiveness in the craniofacial tissues, and these patterns of Wnt signaling colocalize with stem/progenitor populations in the rodent incisor apex, the dental pulp, the alveolar bone, the periodontal ligament, the cementum, and oral mucosa. The importance of Wnt signaling in both the maintenance and healing of these craniofacial tissues is summarized, and the therapeutic potential of Wnt-based strategies to accelerate healing through activation of endogenous stem cells is highlighted. PMID:26285808

  3. Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice.

    PubMed

    Laclef, Christine; Souil, Evelyne; Demignon, Josiane; Maire, Pascal

    2003-06-01

    Six genes are widely expressed during vertebrate embryogenesis, suggesting that they are implicated in diverse differentiation processes. To determine the functions of the Six1 gene, we constructed Six1-deficient mice by replacing its first exon by the beta-galactosidase gene. We have previously shown that mice lacking Six1 die at birth due to thoracic skeletal defects and severe muscle hypoplasia affecting most of the body muscles. Here, we report that Six1(-/-) neonates also lack a kidney and thymus, as well as displaying a strong disorganisation of craniofacial structures, namely the inner ear, the nasal cavity, the craniofacial skeleton, and the lacrimal and parotid glands. These organ defects can be correlated with Six1 expression in the embryonic primordium structures as revealed by X-Gal staining at different stages of embryogenesis. Thus, the fetal abnormalities of Six1(-/-) mice appear to result from the absence of the Six 1 homeoprotein during early stages of organogenesis. Interestingly, these Six1 defects are very similar to phenotypes caused by mutations of Eya 1, which are responsible for the BOR syndrome in humans. Close comparison of Six1 and Eya 1 deficient mice strongly suggests a functional link between these two factors. Pax gene mutations also lead to comparable phenotypes, suggesting that a regulatory network including the Pax, Six and Eya genes is required for several types of organogenesis in mammals. PMID:12834866

  4. Craniofacial resection: decreased complication rate with a modified subcranial approach.

    PubMed

    Ross, D A; Marentette, L J; Moore, C E; Switz, K L

    1999-01-01

    The authors have successfully utilized a modified subcranial approach to the anterior skull base, based upon the procedure first described by Joram Raveh, as an alternative to standard craniofacial resection. The complication rate of this procedure in 31 consecutive cases (28 tumors, 2 congenital malformations, and 1 mucocele) has been 19.4% with no permanent complications, no deaths, no new neurological deficits, no brain injuries, no infections, and no seizures. Minor complications without permanent sequelae included two cases of tension pnenmocephalus, a subdural hygroma, two transient cerebrospinal fluid leaks, and a case of bacterial meningitis secondary to fecal contamination of a lumbar drain in a child. Average length of hospitalization was 7.1 days (range 2 to 16 days). The overall complication rate is considerably below the complication rate for other reported craniofacial procedures. We describe the technique we have used and the results. The subcranial approach as described herein provides wide exposure of the anterior cranial base without brain retraction, does not require prolonged operating times or hospitalization, and has a potentially lower complication rate than reported for other transfrontal transbasal approaches. PMID:17171124

  5. IFT46 plays crucial roles in craniofacial and cilia development.

    PubMed

    Park, Inji; Lee, Hyun-Kyung; Kim, Chowon; Ismail, Tayaba; Kim, Yoo-Kyung; Park, Jeen-Woo; Kwon, Oh-Shin; Kang, Beom Sik; Lee, Dong-Seok; Park, Tae-Joo; Park, Mae-Ja; Choi, Sun-Cheol; Lee, Hyun-Shik

    2016-08-26

    The intraflagellar transport (IFT) system is essential for bidirectional movement of ciliary components from the basal body to the tip beneath the ciliary sheath and is conserved for cilia and flagella formation in most vertebrates. IFT complex A is involved in anterograde trafficking, whereas complex B is involved in retrograde trafficking. IFT46 is well known as a crucial component of IFT complex B, however, its developmental functions are poorly understood. In this study, we investigated the novel functions of IFT46 during vertebrate development, especially, ciliogenesis and neurogenesis, because IFT46 is strongly expressed in both multiciliated cells of epithelial and neural tissues. Knockdown of IFT46 using morpholino microinjections caused shortening of the body axis as well as the formation of fewer and shorter cilia. Furthermore, loss of IFT46 down-regulated the expression of the neural plate and neural tube markers, thus may influence Wnt/planar cell polarity and the sonic hedgehog signaling pathway during neurogenesis. In addition, loss of IFT46 caused craniofacial defects by interfering with cartilage formation. In conclusion, our results depict that IFT46 plays important roles in cilia as well as in neural and craniofacial development. PMID:27320864

  6. Thermal shell fragment craniofacial injury: biophysics, pathophysiology, and management.

    PubMed

    Shuker, Sabri T

    2015-01-01

    This article aims to bring attention to unique risks and burns by thermal shell fragment craniofacial soft tissue injury. Hot shrapnel may inflict burns to major vessel walls and lead to life-threatening hemorrhaging or death, which adds a new challenge for craniofacial surgeons. Morbidity of thermal deep tissue may lead to deep tissue necrosis and infection.Thermal energy (TE) physics, biophysics, and pathophysiological effects relate directly to the amount of heat generated from shell casing detonation, which transfers to skin, deep tissue, as well as brain and leads to life-threatening burning of organs; this is different from shrapnel kinetic energy injury.The unprecedented increase in using a large range of explosives and high-heat thermobaric weapons contributes to the superfluous and unnecessary suffering caused by thermal injury wounds.Surgeons and medics should recognize that a surprising amount of TE can be found in an explosion or detonation of a steel-encased explosive, resulting in TEs ranging from 400 F up to 1000 F. PMID:25534053

  7. Developmental mechanisms underlying variation in craniofacial disease and evolution.

    PubMed

    Fish, Jennifer L

    2016-07-15

    Craniofacial disease phenotypes exhibit significant variation in penetrance and severity. Although many genetic contributions to phenotypic variation have been identified, genotype-phenotype correlations remain imprecise. Recent work in evolutionary developmental biology has exposed intriguing developmental mechanisms that potentially explain incongruities in genotype-phenotype relationships. This review focuses on two observations from work in comparative and experimental animal model systems that highlight how development structures variation. First, multiple genetic inputs converge on relatively few developmental processes. Investigation of when and how variation in developmental processes occurs may therefore help predict potential genetic interactions and phenotypic outcomes. Second, genetic mutation is typically associated with an increase in phenotypic variance. Several models outlining developmental mechanisms underlying mutational increases in phenotypic variance are discussed using Satb2-mediated variation in jaw size as an example. These data highlight development as a critical mediator of genotype-phenotype correlations. Future research in evolutionary developmental biology focusing on tissue-level processes may help elucidate the "black box" between genotype and phenotype, potentially leading to novel treatment, earlier diagnoses, and better clinical consultations for individuals affected by craniofacial anomalies. PMID:26724698

  8. Rare bone diseases and their dental, oral, and craniofacial manifestations.

    PubMed

    Foster, B L; Ramnitz, M S; Gafni, R I; Burke, A B; Boyce, A M; Lee, J S; Wright, J T; Akintoye, S O; Somerman, M J; Collins, M T

    2014-07-01

    Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) manifestations, but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. In this review, we focus on dental, oral, and craniofacial manifestations of rare bone diseases. Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease). For each condition, we highlight causative mutations (when known), etiopathology in the skeleton and DOC complex, and treatments. By understanding how these 4 foci are subverted to cause disease, we aim to improve the identification of genetic, molecular, and/or biologic causes, diagnoses, and treatment of these and other rare bone conditions that may share underlying mechanisms of disease. PMID:24700690

  9. Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations

    PubMed Central

    Foster, B.L.; Ramnitz, M.S.; Gafni, R.I.; Burke, A.B.; Boyce, A.M.; Lee, J.S.; Wright, J.T.; Akintoye, S.O.; Somerman, M.J.; Collins, M.T.

    2014-01-01

    Hereditary diseases affecting the skeleton are heterogeneous in etiology and severity. Though many of these conditions are individually rare, the total number of people affected is great. These disorders often include dental-oral-craniofacial (DOC) manifestations, but the combination of the rarity and lack of in-depth reporting often limit our understanding and ability to diagnose and treat affected individuals. In this review, we focus on dental, oral, and craniofacial manifestations of rare bone diseases. Discussed are defects in 4 key physiologic processes in bone/tooth formation that serve as models for the understanding of other diseases in the skeleton and DOC complex: progenitor cell differentiation (fibrous dysplasia), extracellular matrix production (osteogenesis imperfecta), mineralization (familial tumoral calcinosis/hyperostosis hyperphosphatemia syndrome, hypophosphatemic rickets, and hypophosphatasia), and bone resorption (Gorham-Stout disease). For each condition, we highlight causative mutations (when known), etiopathology in the skeleton and DOC complex, and treatments. By understanding how these 4 foci are subverted to cause disease, we aim to improve the identification of genetic, molecular, and/or biologic causes, diagnoses, and treatment of these and other rare bone conditions that may share underlying mechanisms of disease. PMID:24700690

  10. Stem cells, growth factors and scaffolds in craniofacial regenerative medicine

    PubMed Central

    Tollemar, Viktor; Collier, Zach J.; Mohammed, Maryam K.; Lee, Michael J.; Ameer, Guillermo A.; Reid, Russell R.

    2015-01-01

    Current reconstructive approaches to large craniofacial skeletal defects are often complicated and challenging. Critical-sized defects are unable to heal via natural regenerative processes and require surgical intervention, traditionally involving autologous bone (mainly in the form of nonvascularized grafts) or alloplasts. Autologous bone grafts remain the gold standard of care in spite of the associated risk of donor site morbidity. Tissue engineering approaches represent a promising alternative that would serve to facilitate bone regeneration even in large craniofacial skeletal defects. This strategy has been tested in a myriad of iterations by utilizing a variety of osteoconductive scaffold materials, osteoblastic stem cells, as well as osteoinductive growth factors and small molecules. One of the major challenges facing tissue engineers is creating a scaffold fulfilling the properties necessary for controlled bone regeneration. These properties include osteoconduction, osetoinduction, biocompatibility, biodegradability, vascularization, and progenitor cell retention. This review will provide an overview of how optimization of the aforementioned scaffold parameters facilitates bone regenerative capabilities as well as a discussion of common osteoconductive scaffold materials. PMID:27239485

  11. A gene expression atlas of early craniofacial development.

    PubMed

    Brunskill, Eric W; Potter, Andrew S; Distasio, Andrew; Dexheimer, Phillip; Plassard, Andrew; Aronow, Bruce J; Potter, S Steven

    2014-07-15

    We present a gene expression atlas of early mouse craniofacial development. Laser capture microdissection (LCM) was used to isolate cells from the principal critical microregions, whose development, differentiation and signaling interactions are responsible for the construction of the mammalian face. At E8.5, as migrating neural crest cells begin to exit the neural fold/epidermal ectoderm boundary, we examined the cranial mesenchyme, composed of mixed neural crest and paraxial mesoderm cells, as well as cells from adjacent neuroepithelium. At E9.5 cells from the cranial mesenchyme, overlying olfactory placode/epidermal ectoderm, and underlying neuroepithelium, as well as the emerging mandibular and maxillary arches were sampled. At E10.5, as the facial prominences form, cells from the medial and lateral prominences, the olfactory pit, multiple discrete regions of underlying neuroepithelium, the mandibular and maxillary arches, including both their mesenchymal and ectodermal components, as well as Rathke's pouch, were similarly sampled and profiled using both microarray and RNA-seq technologies. Further, we performed single cell studies to better define the gene expression states of the early E8.5 pioneer neural crest cells and paraxial mesoderm. Taken together, and analyzable by a variety of biological network approaches, these data provide a complementing and cross validating resource capable of fueling discovery of novel compartment specific markers and signatures whose combinatorial interactions of transcription factors and growth factors/receptors are responsible for providing the master genetic blueprint for craniofacial development. PMID:24780627

  12. A Gene Expression Atlas of Early Craniofacial Development

    PubMed Central

    Brunskill, Eric W.; Potter, Andrew S.; Distasio, Andrew; Dexheimer, Phillip; Plassard, Andrew; Aronow, Bruce J.; Potter, S. Steven

    2014-01-01

    We present a gene expression atlas of early mouse craniofacial development. Laser capture microdissection (LCM) was used to isolate cells from the principal critical micro-regions, whose development, differentiation and signaling interactions are responsible for the construction of the mammalian face. At E8.5, as migrating neural crest cells begin to exit the neural fold/epidermal ectoderm boundary, we examined the cranial mesenchyme, composed of mixed neural crest and paraxial mesoderm cells, as well as cells from adjacent neuroepithelium. At E9.5 cells from the cranial mesenchyme, overlying olfactory placode/epidermal ectoderm, and underlying neuroepithelium, as well as the emerging mandibular and maxillary arches were sampled. At E10.5, as the facial prominences form, cells from the medial and lateral prominences, the olfactory pit, multiple discrete regions of underlying neuroepithelium, the mandibular and maxillary arches, including both their mesenchymal and ectodermal components, as well as Rathke’s pouch, were similarly sampled and profiled using both microarray and RNA-seq technologies. Further, we performed single cell studies to better define the gene expression states of the early E8.5 pioneer neural crest cells and paraxial mesoderm. Taken together, and analyzable by a variety of biological network approaches, these data provide a complementing and cross-validating resource capable of fueling discovery of novel compartment specific markers and signatures whose combinatorial interactions of transcription factors and growth factors/receptors are responsible for providing the master genetic blueprint for craniofacial development. PMID:24780627

  13. Creation of three-dimensional craniofacial standards from CBCT images

    NASA Astrophysics Data System (ADS)

    Subramanyan, Krishna; Palomo, Martin; Hans, Mark

    2006-03-01

    Low-dose three-dimensional Cone Beam Computed Tomography (CBCT) is becoming increasingly popular in the clinical practice of dental medicine. Two-dimensional Bolton Standards of dentofacial development are routinely used to identify deviations from normal craniofacial anatomy. With the advent of CBCT three dimensional imaging, we propose a set of methods to extend these 2D Bolton Standards to anatomically correct surface based 3D standards to allow analysis of morphometric changes seen in craniofacial complex. To create 3D surface standards, we have implemented series of steps. 1) Converting bi-plane 2D tracings into set of splines 2) Converting the 2D splines curves from bi-plane projection into 3D space curves 3) Creating labeled template of facial and skeletal shapes and 4) Creating 3D average surface Bolton standards. We have used datasets from patients scanned with Hitachi MercuRay CBCT scanner providing high resolution and isotropic CT volume images, digitized Bolton Standards from age 3 to 18 years of lateral and frontal male, female and average tracings and converted them into facial and skeletal 3D space curves. This new 3D standard will help in assessing shape variations due to aging in young population and provide reference to correct facial anomalies in dental medicine.

  14. Reliability of Craniofacial Superimposition Using Three-Dimension Skull Model.

    PubMed

    Gaudio, Daniel; Olivieri, Lara; De Angelis, Danilo; Poppa, Pasquale; Galassi, Andrea; Cattaneo, Cristina

    2016-01-01

    Craniofacial superimposition is a technique potentially useful for the identification of unidentified human remains if a photo of the missing person is available. We have tested the reliability of the 2D-3D computer-aided nonautomatic superimposition techniques. Three-dimension laser scans of five skulls and ten photographs were overlaid with an imaging software. The resulting superimpositions were evaluated using three methods: craniofacial landmarks, morphological features, and a combination of the two. A 3D model of each skull without its mandible was tested for superimposition; we also evaluated whether separating skulls by sex would increase correct identifications. Results show that the landmark method employing the entire skull is the more reliable one (5/5 correct identifications, 40% false positives [FP]), regardless of sex. However, the persistence of a high percentage of FP in all the methods evaluated indicates that these methods are unreliable for positive identification although the landmark-only method could be useful for exclusion. PMID:26335587

  15. Parietal and hippocampal contribution to topokinetic and topographic memory.

    PubMed Central

    Berthoz, A

    1997-01-01

    This paper reviews the involvement of the parietal cortex and the hippocampus in three kinds of spatial memory tasks which all require a memory of a previously experienced movement in space. The first task compared, by means of positron emission tomography (PET) scan techniques, the production, in darkness, of self-paced saccades (SAC) with the reproduction, in darkness, of a previously learned sequence of saccades to visual targets (SEQ). The results show that a bilateral increase of activity was seen in the depth of the intraparietal sulcus and the medial superior parietal cortex (superior parietal gyrus and precuneus) together with the frontal sulcus but only in the SEQ task, which involved memory of the previously seen targets and possibly also motor memory. The second task is the vestibular memory contingent task, which requires that the subject makes, in darkness, a saccade to the remembered position of a visual target after a passively imposed whole-body rotation. Deficits in this task, which involves vestibular memory, were found predominantly in patients with focal vascular lesions in the parieto-insular (vestibular) cortex, the supplementary motor area-supplementary eye field area, and the prefrontal cortex. The third task requires mental navigation from the memory of a previously learned route in a real environment (the city of Orsay in France). A PET scan study has revealed that when subjects were asked to remember visual landmarks there was a bilateral activation of the middle hippocampal regions, left inferior temporal gyrus, left hippocampal regions, precentral gyrus and posterior cingulate gyrus. If the subjects were asked to remember the route, and their movements along this route, bilateral activation of the dorsolateral cortex, posterior hippocampal areas, posterior cingulate gyrus, supplementary motor areas, right middle hippocampal areas, left precuneus, middle occipital gyrus, fusiform gyrus and lateral premotor area was found. Subtraction

  16. Sylvian fissure and parietal anatomy in children with autism spectrum disorder.

    PubMed

    Knaus, Tracey A; Tager-Flusberg, Helen; Foundas, Anne L

    2012-01-01

    Autism spectrum disorder (ASD) is characterized by deficits in social functioning and language and communication, with restricted interests or stereotyped behaviors. Anatomical differences have been found in the parietal cortex in children with ASD, but parietal subregions and associations between Sylvian fissure (SF) and parietal anatomy have not been explored. In this study, SF length and anterior and posterior parietal volumes were measured on MRI in 30 right-handed boys with ASD and 30 right-handed typically developing boys (7-14 years), matched on age and non-verbal IQ. There was leftward SF and anterior parietal asymmetry, and rightward posterior parietal asymmetry, across groups. There were associations between SF and parietal asymmetries, with slight group differences. Typical SF asymmetry was associated with typical anterior and posterior parietal asymmetry, in both groups. In the atypical SF asymmetry group, controls had atypical parietal asymmetry, whereas in ASD there were more equal numbers of individuals with typical as atypical anterior parietal asymmetry. We did not find significant anatomical-behavioral associations. Our findings of more individuals in the ASD group having a dissociation between cortical asymmetries warrants further investigation of these subgroups and emphasizes the importance of investigating anatomical relationships in addition to group differences in individual regions. PMID:22713374

  17. Study on the performance of different craniofacial superimposition approaches (II): Best practices proposal.

    PubMed

    Damas, S; Wilkinson, C; Kahana, T; Veselovskaya, E; Abramov, A; Jankauskas, R; Jayaprakash, P T; Ruiz, E; Navarro, F; Huete, M I; Cunha, E; Cavalli, F; Clement, J; Lestón, P; Molinero, F; Briers, T; Viegas, F; Imaizumi, K; Humpire, D; Ibáñez, O

    2015-12-01

    Craniofacial superimposition, although existing for one century, is still a controversial technique within the scientific community. Objective and unbiased validation studies over a significant number of cases are required to establish a more solid picture on the reliability. However, there is lack of protocols and standards in the application of the technique leading to contradictory information concerning reliability. Instead of following a uniform methodology, every expert tends to apply his own approach to the problem, based on the available technology and deep knowledge on human craniofacial anatomy, soft tissues, and their relationships. The aim of this study was to assess the reliability of different craniofacial superimposition methodologies and the corresponding technical approaches to this type of identification. With all the data generated, some of the most representative experts in craniofacial identification joined in a discussion intended to identify and agree on the most important issues that have to be considered to properly employ the craniofacial superimposition technique. As a consequence, the consortium has produced the current manuscript, which can be considered the first standard in the field; including good and bad practices, sources of error and uncertainties, technological requirements and desirable features, and finally a common scale for the craniofacial matching evaluation. Such a document is intended to be part of a more complete framework for craniofacial superimposition, to be developed during the FP7-founded project MEPROCS, which will favour and standardize its proper application. PMID:26482539

  18. BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development

    PubMed Central

    Holmes, Greg; van Bakel, Harm; Zhou, Xueyan; Losic, Bojan; Jabs, Ethylin Wang

    2014-01-01

    Sutures, where neighboring craniofacial bones are separated by undifferentiated mesenchyme, are major growth sites during craniofacial development. Pathologic fusion of bones within sutures occurs in a wide variety of craniosynostosis conditions and can result in dysmorphic craniofacial growth and secondary neurologic deficits. Our knowledge of the genes involved in suture formation is poor. Here we describe the novel expression pattern of the BCL11B transcription factor protein during murine embryonic craniofacial bone formation. We examined BCL11B protein expression at E14.5, E16.5, and E18.5 in 14 major craniofacial sutures of C57BL/6J mice. We found BCL11B expression to be associated with all intramembranous craniofacial bones examined. The most striking aspects of BCL11B expression were its high levels in suture mesenchyme and increasingly complementary expression with RUNX2 in differentiating osteoblasts during development. BCL11B was also expressed in mesenchyme at the non-sutural edges of intramembranous bones. No expression was seen in osteoblasts involved in endochondral ossification of the cartilaginous cranial base. BCL11B is expressed to potentially regulate the transition of mesenchymal differentiation and suture formation within craniofacial intramembranous bone. PMID:25511173

  19. Sleep Related Hypermotor Seizures with a Right Parietal Onset

    PubMed Central

    Gibbs, Steve A.; Figorilli, Michela; Casaceli, Giuseppe; Proserpio, Paola; Nobili, Lino

    2015-01-01

    Nocturnal frontal lobe epilepsy (NFLE) is a syndrome characterized by the occurrence of sleep related seizures of variable complexity and duration. Hypermotor seizures (HMS) represent a classic manifestation of this syndrome, associated with a perturbation of the ventromesial frontal cortex and anterior cingulate gyrus regions. Nevertheless, in recent years, reports have showed that the seizure onset zone (SOZ) need not be of frontal origin to generate HMS. Here we report an unusual case of a patient presenting with a seven-year history of drug-resistant sleep related HMS arising from the mesial parietal region. The presence of an infrequent feeling of levitation before the HMS was key to suspecting a subtle focal cortical dysplasia in the right precuneus region. A stereo-EEG investigation confirmed the extra-frontal seizure onset of the HMS and highlighted the interrelationship between unstable sleep and seizure precipitation. Citation: Gibbs SA, Figorilli M, Casaceli G, Proserpio P, Nobili L. Sleep related hypermotor seizures with a right parietal onset. J Clin Sleep Med 2015;11(8):953–955. PMID:25902821

  20. Fronto-parietal network supports context-dependent speech comprehension

    PubMed Central

    Smirnov, Dmitry; Glerean, Enrico; Lahnakoski, Juha M.; Salmi, Juha; Jääskeläinen, Iiro P.; Sams, Mikko; Nummenmaa, Lauri

    2014-01-01

    Knowing the context of a discourse is an essential prerequisite for comprehension. Here we used functional magnetic resonance imaging (fMRI) to disclose brain networks supporting context-dependent speech comprehension. During fMRI, 20 participants listened to 1-min spoken narratives preceded by pictures that were either contextually matching or mismatching with the narrative. Matching pictures increased narrative comprehension, decreased hemodynamic activity in Broca׳s area, and enhanced its functional connectivity with left anterior superior frontal gyrus, bilateral inferior parietal cortex, as well as anterior and posterior cingulate cortex. Further, the anterior (BA 45) and posterior (BA 44) portions of Broca׳s area differed in their functional connectivity patterns. Both BA 44 and BA 45 have shown increased connectivity with right angular gyrus and supramarginal gyrus. Whereas BA 44 showed increased connectivity with left angular gyrus, left inferior/middle temporal gyrus and left postcentral gyrus, BA 45 showed increased connectivity with right posterior cingulate cortex, right anterior inferior frontal gyrus, lateral occipital cortex and anterior cingulate cortex. Our results suggest that a fronto-parietal functional network supports context-dependent narrative comprehension, and that Broca׳s area is involved in resolving ambiguity from speech when appropriate contextual cues are lacking. PMID:25218167

  1. Frontal Monitoring and Parietal Evidence: Mechanisms of Error Correction.

    PubMed

    Navarro-Cebrian, Ana; Knight, Robert T; Kayser, Andrew S

    2016-08-01

    When we respond to a stimulus, our decisions are based not only on external stimuli but also on our ongoing performance. If the response deviates from our goals, monitoring and decision-making brain areas interact so that future behavior may change. By taking advantage of natural variation in error salience, as measured by the RT taken to correct an error (RTEC), here we argue that an evidence accumulation framework provides a potential underlying mechanism for this variable process of error identification and correction, as evidenced by covariation of frontal monitoring and parietal decision-making processes. We study two early EEG signals linked to monitoring within medial PFC-the error-related negativity (ERN) and frontocentral theta activity-and a third EEG signal, the error positivity (Pe), that is thought to share the same parietal substrates as a signal (the P3b) proposed to reflect evidence accumulation. As predicted, our data show that on slow RTEC trials, frontal monitoring resources are less strongly employed, and the latency of the Pe is longer. Critically, the speed of the RTEC also covaries with the magnitude of subsequent neural (intertrial alpha power) and behavioral (post-error slowing) adjustments following the correction. These results are synthesized to describe a timing diagram for adaptive decision-making after errors and support a potential evidence accumulation mechanism in which error signaling is followed by rapid behavioral adjustments. PMID:27027420

  2. Right parietal cortex mediates recognition memory for melodies.

    PubMed

    Schaal, Nora K; Javadi, Amir-Homayoun; Halpern, Andrea R; Pollok, Bettina; Banissy, Michael J

    2015-07-01

    Functional brain imaging studies have highlighted the significance of right-lateralized temporal, frontal and parietal brain areas for memory for melodies. The present study investigated the involvement of bilateral posterior parietal cortices (PPCs) for the recognition memory of melodies using transcranial direct current stimulation (tDCS). Participants performed a recognition task before and after tDCS. The task included an encoding phase (12 melodies), a retention period, as well as a recognition phase (24 melodies). Experiment 1 revealed that anodal tDCS over the right PPC led to a deterioration of overall memory performance compared with sham. Experiment 2 confirmed the results of Experiment 1 and further showed that anodal tDCS over the left PPC did not show a modulatory effect on memory task performance, indicating a right lateralization for musical memory. Furthermore, both experiments revealed that the decline in memory for melodies can be traced back to an interference of anodal stimulation on the recollection process (remember judgements) rather than to familiarity judgements. Taken together, this study revealed a causal involvement of the right PPC for memory for melodies and demonstrated a key role for this brain region in the recollection process of the memory task. PMID:25959620

  3. Modeling Murine Gastric Metaplasia Through Tamoxifen-Induced Acute Parietal Cell Loss.

    PubMed

    Saenz, Jose B; Burclaff, Joseph; Mills, Jason C

    2016-01-01

    Parietal cell loss represents the initial step in the sequential progression toward gastric adenocarcinoma. In the setting of chronic inflammation, the expansion of the mucosal response to parietal cell loss characterizes a crucial transition en route to gastric dysplasia. Here, we detail methods for using the selective estrogen receptor modulator tamoxifen as a novel tool to rapidly and reversibly induce parietal cell loss in mice in order to study the mechanisms that underlie these pre-neoplastic events. PMID:27246044

  4. Psychosocial aspects of craniofacial disfigurement. A "State of the Art" assessment conducted by the Craniofacial Anomalies Program Branch, The National Institute of Dental Research.

    PubMed

    Stricker, G; Clifford, E; Cohen, L K; Giddon, D B; Meskin, L H; Evans, C A

    1979-10-01

    The psychosocial sequelae of craniofacial disfigurement may have as great an impact on the patient as the strictly physical aspects of the problem. Very little systematic work has been focused directly on these effects. The following broad recommendations would constitute initial research steps in this field: Development of satisfactory measures of physical attractiveness and their use in studies to explore the role of craniofacial features in over-all physical attractiveness. The establishment of valid metrics for assessing the severity of craniofacial anomalies through the use of both physiologic and behavioral measures, thus constructing a broader definition of what constitutes a craniofacial handicap. Studies of the relationships among physiologic and behavioral variables using recently developed statistical techniques and computer methods to determine the psychosocial consequences of craniofacial disfigurement. Studies of the process through which persons with various types of malocclusion decide to seek and complete treatment. The studies would include the patients' demographic characteristics, self-perceptions, perceptions of them by others, and the complex patient-clinician interactions during the treatment programs. PMID:386802

  5. Discrimination and evocation of affectively intoned speech in patients with right parietal disease.

    PubMed

    Tucker, D M; Watson, R T; Heilman, K M

    1977-10-01

    Patients with right parietal disease have disturbed comprehension of affective speech. Ability to discriminate affective speech (make same/different discriminations) and ability to repeat emotionally bland sentences with affective tones were tested in three groups of subjects--patients with right parietal dysfunction and neglect, conduction aphasics with left hemispheric lesions, and patients without intracranial disease. Patients with right parietal dysfunction performed significantly poorer than did aphasic controls on both a recognition and discrimination task. Patients with right parietal dysfunction also scored poorer on the evocative task than the nonaphasic controls. PMID:561908

  6. Altered FGF signalling in congenital craniofacial and skeletal disorders.

    PubMed

    Moosa, Shahida; Wollnik, Bernd

    2016-05-01

    The fibroblast growth factor (FGF) signalling pathway has been the focus of intense genetic and functional research for several decades. The emerging data implicate FGF signalling in diverse regulatory processes, both in the developing embryo as well as in the adult organism. Alterations in this tightly regulated pathway can lead to a number of pathological conditions, ranging from well-recognized congenital disorders to cancer. In order to mediate their cellular processes, FGFs signal through a subfamily of tyrosine kinase receptors, called FGF receptors (FGFRs). In humans, four FGFRs are described, and, to date, mutations in FGFR1, FGFR2, and FGFR3 have been shown to underlie human developmental disorders. FGFs/FGFRs are known to be key players in both endochondral and intramembranous bone development. In this review, we focus on the major developmental craniofacial and skeletal disorders which result from altered FGF signalling. PMID:26686047

  7. The emerging roles of ribosome biogenesis in craniofacial development.

    PubMed

    Ross, Adam P; Zarbalis, Konstantinos S

    2014-01-01

    Neural crest cells (NCCs) are a transient, migratory cell population, which originates during neurulation at the neural folds and contributes to the majority of tissues, including the mesenchymal structures of the craniofacial skeleton. The deregulation of the complex developmental processes that guide migration, proliferation, and differentiation of NCCs may result in a wide range of pathological conditions grouped together as neurocristopathies. Recently, due to their multipotent properties neural crest stem cells have received considerable attention as a possible source for stem cell based regenerative therapies. This exciting prospect underlines the need to further explore the developmental programs that guide NCC differentiation. This review explores the particular importance of ribosome biogenesis defects in this context since a specific interface between ribosomopathies and neurocristopathies exists as evidenced by disorders such as Treacher-Collins-Franceschetti syndrome (TCS) and Diamond-Blackfan anemia (DBA). PMID:24550838

  8. Stature estimation from craniofacial anthropometry in Bangladeshi Garo adult females.

    PubMed

    Akhter, Z; Banu, L A; Alam, M M; Rahman, M F

    2012-07-01

    Estimation of stature is an important tool in forensic examination especially in unknown, highly decomposed, fragmentary and mutilated human remains. When the evidences are skeletal remains; forensic anthropology has put forward means to estimate the stature from the skeletal and even from fragmentary bones. Sometimes, craniofacial remains are brought in for forensic and postmortem examination. In such a situation, estimation of stature becomes equally important along with other parameters like age, sex, race, etc. Today, anthropometry plays an important role in industrial design, clothing design, ergonomics and architecture where statistical data about the distribution of body dimensions in the population are used to optimize products. It is well established that a single standard of craniofacial aesthetics is not appropriate for application to diverse racial and ethnic groups. Bangladesh is a country not only for the Bengalis; the country harbours many cultures and people of different races because of the colonial rules of the past regimes. Like other ethnic groups, the Garos (study subjects) have their own set of language, social structure, cultures and economic activities and religious values. In the above context, the present study was attempted to establish ethnic specific anthropometric data for the Bangladeshi Garo adult females. The study also attempted to find out the correlation of the craniofacial dimensions with stature and to determine multiplication factors. The study was an observational, cross-sectional and primarily descriptive in nature with some analytical components. The study was carried out with a total number of one hundred Garo adult females, aged between 25-45 years. Craniofacial dimension such as head circumference, head length, facial height from 'nasion' to 'gnathion', bizygomatic breadth and stature were measured using a measuring tape, spreading caliper, steel plate and steel tape and sliding caliper. The data were then statistically

  9. Craniofacial syndromes and sleep-related breathing disorders.

    PubMed

    Tan, Hui-Leng; Kheirandish-Gozal, Leila; Abel, François; Gozal, David

    2016-06-01

    Children with craniofacial syndromes are at risk of sleep disordered breathing, the most common being obstructive sleep apnea. Midface hypoplasia in children with craniosynostosis and glossoptosis in children with Pierre Robin syndrome are well recognized risk factors, but the etiology is often multifactorial and many children have multilevel airway obstruction. We examine the published evidence and explore the current management strategies in these complex patients. Some treatment modalities are similar to those used in otherwise healthy children such as adenotonsillectomy, positive pressure ventilation and in the refractory cases, tracheostomy. However, there are some distinct approaches such as nasopharyngeal airways, tongue lip adhesion, mandibular distraction osteogenesis in children with Pierre Robin sequence, and midface advancement in children with craniosynostoses. Clinicians should have a low threshold for referral for evaluation of sleep-disordered-breathing in these patients. PMID:26454241

  10. Clinical guidelines for the management of craniofacial fibrous dysplasia

    PubMed Central

    2012-01-01

    Fibrous dysplasia (FD) is a non-malignant condition caused by post-zygotic, activating mutations of the GNAS gene that results in inhibition of the differentiation and proliferation of bone-forming stromal cells and leads to the replacement of normal bone and marrow by fibrous tissue and woven bone. The phenotype is variable and may be isolated to a single skeletal site or multiple sites and sometimes is associated with extraskeletal manifestations in the skin and/or endocrine organs (McCune-Albright syndrome). The clinical behavior and progression of FD may also vary, thereby making the management of this condition difficult with few established clinical guidelines. This paper provides a clinically-focused comprehensive description of craniofacial FD, its natural progression, the components of the diagnostic evaluation and the multi-disciplinary management, and considerations for future research. PMID:22640797

  11. Clinical guidelines for the management of craniofacial fibrous dysplasia.

    PubMed

    Lee, J S; FitzGibbon, E J; Chen, Y R; Kim, H J; Lustig, L R; Akintoye, S O; Collins, M T; Kaban, L B

    2012-05-24

    Fibrous dysplasia (FD) is a non-malignant condition caused by post-zygotic, activating mutations of the GNAS gene that results in inhibition of the differentiation and proliferation of bone-forming stromal cells and leads to the replacement of normal bone and marrow by fibrous tissue and woven bone. The phenotype is variable and may be isolated to a single skeletal site or multiple sites and sometimes is associated with extraskeletal manifestations in the skin and/or endocrine organs (McCune-Albright syndrome). The clinical behavior and progression of FD may also vary, thereby making the management of this condition difficult with few established clinical guidelines. This paper provides a clinically-focused comprehensive description of craniofacial FD, its natural progression, the components of the diagnostic evaluation and the multi-disciplinary management, and considerations for future research. PMID:22640797

  12. Implant-retained craniofacial prostheses for facial defects

    PubMed Central

    Federspil, Philipp A.

    2012-01-01

    Craniofacial prostheses, also known as epistheses, are artificial substitutes for facial defects. The breakthrough for rehabilitation of facial defects with implant-retained prostheses came with the development of the modern silicones and bone anchorage. Following the discovery of the osseointegration of titanium in the 1950s, dental implants have been made of titanium in the 1960s. In 1977, the first extraoral titanium implant was inserted in a patient. Later, various solitary extraoral implant systems were developed. Grouped implant systems have also been developed which may be placed more reliably in areas with low bone presentation, as in the nasal and orbital region, or the ideally pneumatised mastoid process. Today, even large facial prostheses may be securely retained. The classical atraumatic surgical technique has remained an unchanged prerequisite for successful implantation of any system. This review outlines the basic principles of osseointegration as well as the main features of extraoral implantology. PMID:22073096

  13. Functional coupling constrains craniofacial diversification in Lake Tanganyika cichlids.

    PubMed

    Tsuboi, Masahito; Gonzalez-Voyer, Alejandro; Kolm, Niclas

    2015-05-01

    Functional coupling, where a single morphological trait performs multiple functions, is a universal feature of organismal design. Theory suggests that functional coupling may constrain the rate of phenotypic evolution, yet empirical tests of this hypothesis are rare. In fish, the evolutionary transition from guarding the eggs on a sandy/rocky substrate (i.e. substrate guarding) to mouthbrooding introduces a novel function to the craniofacial system and offers an ideal opportunity to test the functional coupling hypothesis. Using a combination of geometric morphometrics and a recently developed phylogenetic comparative method, we found that head morphology evolution was 43% faster in substrate guarding species than in mouthbrooding species. Furthermore, for species in which females were solely responsible for mouthbrooding the males had a higher rate of head morphology evolution than in those with bi-parental mouthbrooding. Our results support the hypothesis that adaptations resulting in functional coupling constrain phenotypic evolution. PMID:25948565

  14. Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation

    PubMed Central

    Sakai, Daisuke; Dixon, Jill; Achilleos, Annita; Dixon, Michael; Trainor, Paul A.

    2016-01-01

    Craniofacial anomalies account for approximately one-third of all birth defects and are a significant cause of infant mortality. Since the majority of the bones, cartilage and connective tissues that comprise the head and face are derived from a multipotent migratory progenitor cell population called the neural crest, craniofacial disorders are typically attributed to defects in neural crest cell development. Treacher Collins syndrome (TCS) is a disorder of craniofacial development and although TCS arises primarily through autosomal dominant mutations in TCOF1, no clear genotype–phenotype correlation has been documented. Here we show that Tcof1 haploinsufficiency results in oxidative stress-induced DNA damage and neuroepithelial cell death. Consistent with this discovery, maternal treatment with antioxidants minimizes cell death in the neuroepithelium and substantially ameliorates or prevents the pathogenesis of craniofacial anomalies in Tcof1+/− mice. Thus maternal antioxidant dietary supplementation may provide an avenue for protection against the pathogenesis of TCS and similar neurocristopathies. PMID:26792133

  15. Computed tomography of craniofacial trauma at a combat support hospital in Afghanistan.

    PubMed

    Statler, John D; Tempel, Carl G; Harcke, H Theodore

    2005-03-01

    Complex craniofacial injuries are encountered among both soldiers and civilians in combat zones. Computed tomography is a necessary and effective tool for the evaluation and treatment of these injuries in the forward-deployed combat support hospital. PMID:15828695

  16. Effects of sex hormone disturbances on craniofacial growth in newborn mice.

    PubMed

    Fujita, T; Ohtani, J; Shigekawa, M; Kawata, T; Kaku, M; Kohno, S; Tsutsui, K; Tenjo, K; Motokawa, M; Tohma, Y; Tanne, K

    2004-03-01

    It is well-known that sex hormones influence bone metabolism. However, it remains unclear as to how sex hormones affect bone growth in newborn mice. In this study, we performed orchiectomy (ORX) and ovariectomy (OVX) on newborn mice, and examined the effects on craniofacial growth morphometrically. ORX and OVX were performed on five-day-old C57BL/6J mice. Four weeks after surgery, lateral cephalograms were taken of all of the mice, with the use of a rat and mouse cephalometer. Cephalometric analysis of the craniofacial skeleton was performed by means of a personal computer. Inhibition of craniofacial growth was found in the experimental groups but not in the sham-operated groups. In the nasomaxillary bone and mandible, the amount of growth was significantly reduced. These results suggest that craniofacial growth is inhibited by sex hormone disturbances not only in puberty but also immediately after birth. PMID:14981129

  17. 76 FR 30370 - National Institute of Dental and Craniofacial Research; Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-05-25

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental and Craniofacial Research... unwarranted invasion of personal privacy. Name of Committee: National Institute of Dental and...

  18. Assessing Species-specific Contributions To Craniofacial Development Using Quail-duck Chimeras

    PubMed Central

    Fish, Jennifer L.; Schneider, Richard A.

    2014-01-01

    The generation of chimeric embryos is a widespread and powerful approach to study cell fates, tissue interactions, and species-specific contributions to the histological and morphological development of vertebrate embryos. In particular, the use of chimeric embryos has established the importance of neural crest in directing the species-specific morphology of the craniofacial complex. The method described herein utilizes two avian species, duck and quail, with remarkably different craniofacial morphology. This method greatly facilitates the investigation of molecular and cellular regulation of species-specific pattern in the craniofacial complex. Experiments in quail and duck chimeric embryos have already revealed neural crest-mediated tissue interactions and cell-autonomous behaviors that regulate species-specific pattern in the craniofacial skeleton, musculature, and integument. The great diversity of neural crest derivatives suggests significant potential for future applications of the quail-duck chimeric system to understanding vertebrate development, disease, and evolution. PMID:24962088

  19. 77 FR 2987 - National Institute of Dental & Craniofacial Research; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-01-20

    ... Emphasis Panel; Review of R34 Clinical Trial Planning Grants. Date: February 21, 2012. Time: 1 p.m. to 2:30...: National Institute of Dental and Craniofacial Research Special Emphasis Panel; Review of R34 Clinical...

  20. Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation.

    PubMed

    Sakai, Daisuke; Dixon, Jill; Achilleos, Annita; Dixon, Michael; Trainor, Paul A

    2016-01-01

    Craniofacial anomalies account for approximately one-third of all birth defects and are a significant cause of infant mortality. Since the majority of the bones, cartilage and connective tissues that comprise the head and face are derived from a multipotent migratory progenitor cell population called the neural crest, craniofacial disorders are typically attributed to defects in neural crest cell development. Treacher Collins syndrome (TCS) is a disorder of craniofacial development and although TCS arises primarily through autosomal dominant mutations in TCOF1, no clear genotype-phenotype correlation has been documented. Here we show that Tcof1 haploinsufficiency results in oxidative stress-induced DNA damage and neuroepithelial cell death. Consistent with this discovery, maternal treatment with antioxidants minimizes cell death in the neuroepithelium and substantially ameliorates or prevents the pathogenesis of craniofacial anomalies in Tcof1(+/-) mice. Thus maternal antioxidant dietary supplementation may provide an avenue for protection against the pathogenesis of TCS and similar neurocristopathies. PMID:26792133

  1. 75 FR 65495 - National Institute of Dental and Craniofacial Research; Interagency Pain Research Coordinating...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-25

    ... HUMAN SERVICES National Institutes of Health National Institute of Dental and Craniofacial Research; Interagency Pain Research Coordinating Committee; Call for Nominations The Department of Health and Human Services has created the Interagency Pain Research Coordinating Committee and is seeking nominations...

  2. PATHOGENESIS OF METHANOL-INDUCED CRANIOFACIAL DEFECTS IN C57BL/6J MICE

    EPA Science Inventory

    BACKGROUND: Methanol administered to C57BL/6J mice during gastrulation causes severe craniofacial dysmorphology. We describe dysmorphogenesis, cell death, cell cycle assessment, and effects on development of cranial ganglia and nerves observed following administration of methanol...

  3. Development of a biodegradable bone cement for craniofacial applications.

    PubMed

    Henslee, Allan M; Gwak, Dong-Ho; Mikos, Antonios G; Kasper, F Kurtis

    2012-09-01

    This study investigated the formulation of a two-component biodegradable bone cement comprising the unsaturated linear polyester macromer poly(propylene fumarate) (PPF) and crosslinked PPF microparticles for use in craniofacial bone repair applications. A full factorial design was employed to evaluate the effects of formulation parameters such as particle weight percentage, particle size, and accelerator concentration on the setting and mechanical properties of crosslinked composites. It was found that the addition of crosslinked microparticles to PPF macromer significantly reduced the temperature rise upon crosslinking from 100.3°C ± 21.6°C to 102.7°C ± 49.3°C for formulations without microparticles to 28.0°C ± 2.0°C to 65.3°C ± 17.5°C for formulations with microparticles. The main effects of increasing the particle weight percentage from 25 to 50% were to significantly increase the compressive modulus by 37.7 ± 16.3 MPa, increase the compressive strength by 2.2 ± 0.5 MPa, decrease the maximum temperature by 9.5°C ± 3.7°C, and increase the setting time by 0.7 ± 0.3 min. Additionally, the main effects of increasing the particle size range from 0-150 μm to 150-300 μm were to significantly increase the compressive modulus by 31.2 ± 16.3 MPa and the compressive strength by 1.3 ± 0.5 MPa. However, the particle size range did not have a significant effect on the maximum temperature and setting time. Overall, the composites tested in this study were found to have properties suitable for further consideration in craniofacial bone repair applications. PMID:22499285

  4. Characterization of porous polymethylmethacrylate space maintainers for craniofacial reconstruction.

    PubMed

    Wang, Limin; Yoon, Diana M; Spicer, Patrick P; Henslee, Allan M; Scott, David W; Wong, Mark E; Kasper, F Kurtis; Mikos, Antonios G

    2013-07-01

    Porous polymethylmethacrylate (PMMA) has been used as an alloplastic bone substitute in the craniofacial complex, showing integration with the surrounding soft and hard tissue. This study investigated the physicochemical properties of curing and cured mixtures of a PMMA-based bone cement and a carboxymethylcellulose (CMC) gel porogen. Four formulations yielding porous PMMA of varied porosity were examined; specifically, two groups containing 30% (w/w) CMC gel in the mixture using a 7% (w/v) or 9% (w/v) stock CMC gel (30-7 and 30-9, respectively) and two groups containing 40% (w/w) CMC gel (40-7 and 40-9). An additional group comprising solid PMMA without CMC was investigated. The incorporation of the CMC gel into the PMMA bone cement during polymerization decreased the setting time from 608 ± 12 s for the solid PMMA to 427 ± 10 s for the 40-9 group, and decreased the maximum temperature from 81 ± 4°C for the solid PMMA to 38 ± 2°C for the 40-9 group. The porous PMMA groups exhibited reduced compressive strength and bending modulus and strength relative to the solid PMMA. All the porous PMMA formulations released more unconverted methylmethacrylate (MMA) monomer and N,N-dimethyl-p-toluidine (DMT) from cured specimens and less MMA and DMT from curing specimens than the solid PMMA. The data suggest that the physicochemical properties of the porous PMMA formulations are appropriate for their application in craniofacial space maintenance. PMID:23359449

  5. VEGF stimulates intramembranous bone formation during craniofacial skeletal development.

    PubMed

    Duan, Xuchen; Bradbury, Seth R; Olsen, Bjorn R; Berendsen, Agnes D

    2016-01-01

    Deficiency of vascular endothelial growth factor A (VEGF) has been associated with severe craniofacial anomalies in both humans and mice. Cranial neural crest cell (NCC)-derived VEGF regulates proliferation, vascularization and ossification of cartilage and membranous bone. However, the function of VEGF derived from specific subpopulations of NCCs in controlling unique aspects of craniofacial morphogenesis is not clear. In this study a conditional knockdown strategy was used to genetically delete Vegfa expression in Osterix (Osx) and collagen II (Col2)-expressing NCC descendants. No major defects in calvaria and mandibular morphogenesis were observed upon knockdown of VEGF in the Col2(+) cell population. In contrast, loss of VEGF in Osx(+) osteoblast progenitor cells led to reduced ossification of calvarial and mandibular bones without affecting the formation of cartilage templates in newborn mice. The early stages of ossification in the developing jaw revealed decreased initial mineralization levels and a reduced thickness of the collagen I (Col1)-positive bone template upon loss of VEGF in Osx(+) precursors. Increased numbers of proliferating cells were detected within the jaw mesenchyme of mutant embryos. Explant culture assays revealed that mandibular osteogenesis occurred independently of paracrine VEGF action and vascular development. Reduced VEGF expression in mandibles coincided with increased phospho-Smad1/5 (P-Smad1/5) levels and bone morphogenetic protein 2 (Bmp2) expression in the jaw mesenchyme. We conclude that VEGF derived from Osx(+) osteoblast progenitor cells is required for optimal ossification of developing mandibular bones and modulates mechanisms controlling BMP-dependent specification and expansion of the jaw mesenchyme. PMID:26899202

  6. Transient contribution of left posterior parietal cortex to cognitive restructuring.

    PubMed

    Sutoh, Chihiro; Matsuzawa, Daisuke; Hirano, Yoshiyuki; Yamada, Makiko; Nagaoka, Sawako; Chakraborty, Sudesna; Ishii, Daisuke; Matsuda, Shingo; Tomizawa, Haruna; Ito, Hiroshi; Tsuji, Hiroshi; Obata, Takayuki; Shimizu, Eiji

    2015-01-01

    Cognitive restructuring is a fundamental method within cognitive behavioural therapy of changing dysfunctional beliefs into flexible beliefs and learning to react appropriately to the reality of an anxiety-causing situation. To clarify the neural mechanisms of cognitive restructuring, we designed a unique task that replicated psychotherapy during a brain scan. The brain activities of healthy male participants were analysed using functional magnetic resonance imaging. During the brain scan, participants underwent Socratic questioning aimed at cognitive restructuring regarding the necessity of handwashing after using the restroom. The behavioural result indicated that the Socratic questioning effectively decreased the participants' degree of belief (DOB) that they must wash their hands. Alterations in the DOB showed a positive correlation with activity in the left posterior parietal cortex (PPC) while the subject thought about and rated own belief. The involvement of the left PPC not only in planning and decision-making but also in conceptualization may play a pivotal role in cognitive restructuring. PMID:25775998

  7. Sleep Related Hypermotor Seizures with a Right Parietal Onset.

    PubMed

    Gibbs, Steve A; Figorilli, Michela; Casaceli, Giuseppe; Proserpio, Paola; Nobili, Lino

    2015-08-01

    Nocturnal frontal lobe epilepsy (NFLE) is a syndrome characterized by the occurrence of sleep related seizures of variable complexity and duration. Hypermotor seizures (HMS) represent a classic manifestation of this syndrome, associated with a perturbation of the ventromesial frontal cortex and anterior cingulate gyrus regions. Nevertheless, in recent years, reports have showed that the seizure onset zone (SOZ) need not be of frontal origin to generate HMS. Here we report an unusual case of a patient presenting with a seven-year history of drug-resistant sleep related HMS arising from the mesial parietal region. The presence of an infrequent feeling of levitation before the HMS was key to suspecting a subtle focal cortical dysplasia in the right precuneus region. A stereo-EEG investigation confirmed the extra-frontal seizure onset of the HMS and highlighted the interrelationship between unstable sleep and seizure precipitation. PMID:25902821

  8. Transient contribution of left posterior parietal cortex to cognitive restructuring

    PubMed Central

    Sutoh, Chihiro; Matsuzawa, Daisuke; Hirano, Yoshiyuki; Yamada, Makiko; Nagaoka, Sawako; Chakraborty, Sudesna; Ishii, Daisuke; Matsuda, Shingo; Tomizawa, Haruna; Ito, Hiroshi; Tsuji, Hiroshi; Obata, Takayuki; Shimizu, Eiji

    2015-01-01

    Cognitive restructuring is a fundamental method within cognitive behavioural therapy of changing dysfunctional beliefs into flexible beliefs and learning to react appropriately to the reality of an anxiety-causing situation. To clarify the neural mechanisms of cognitive restructuring, we designed a unique task that replicated psychotherapy during a brain scan. The brain activities of healthy male participants were analysed using functional magnetic resonance imaging. During the brain scan, participants underwent Socratic questioning aimed at cognitive restructuring regarding the necessity of handwashing after using the restroom. The behavioural result indicated that the Socratic questioning effectively decreased the participants' degree of belief (DOB) that they must wash their hands. Alterations in the DOB showed a positive correlation with activity in the left posterior parietal cortex (PPC) while the subject thought about and rated own belief. The involvement of the left PPC not only in planning and decision-making but also in conceptualization may play a pivotal role in cognitive restructuring. PMID:25775998

  9. Hypermotor seizures in lateral and mesial parietal epilepsy.

    PubMed

    Montavont, Alexandra; Kahane, Philippe; Catenoix, Hélène; Ostrowsky-Coste, Karine; Isnard, Jean; Guénot, Marc; Rheims, Sylvain; Ryvlin, Philippe

    2013-09-01

    Four patients with refractory epilepsy and hypermotor seizures (HMS) benefited from an intracerebral investigation after a presurgical evaluation and demonstrated an ictal onset zone primarily involving the posterior cortex, specifically the posterior cingulate gyrus in two patients. At seizure onset, these two patients reported a falling sensation, followed by HMSs characterized by swinging movements of the trunk with intense grasping of the bed railing. The two other patients with lateral parietal seizure onset reported blurred vision and dizziness, followed by a mixed pattern of the previously described type 1 and 2 HMSs. Three patients have been operated on, including two class I of Engel after 36 and 52months of follow-up. One patient developed a postoperative infection and continues to suffer seizures. Pathological findings disclosed a type IIa focal cortical dysplasia in all the patients. The last patient is awaiting surgery. Posterior cortex epilepsies, including those originating from the posterior cingulate cortex, can be responsible for HMSs. PMID:23872083

  10. Scalp Medical Tattooing Technique to Camouflage Bifid Parietal Whorls

    PubMed Central

    You, Seung Hyun

    2016-01-01

    Background: To the best of the authors’ knowledge, no reports have described cosmetic problems arising from the hair direction around the parietal whorl (PW). This study was performed to evaluate the efficacy of scalp medical tattooing technique for camouflaging bifid PWs. Methods: We retrospectively examined the outcomes of scalp medical tattooing in 38 patients who were admitted for camouflage of a bifid PW. Results: All patients’ cosmetic appearance was judged, by both the patients and the surgeon, to be markedly improved. No specific complications occurred, such as infection, hair loss in the operative field, or other problems. Conclusion: Scalp medical tattooing appears to be an effective method that helps to camouflage the see-through appearance of bifid PWs. PMID:27200232

  11. Subcortical mapping of calculation processing in the right parietal lobe.

    PubMed

    Della Puppa, Alessandro; De Pellegrin, Serena; Lazzarini, Anna; Gioffrè, Giorgio; Rustemi, Oriela; Cagnin, Annachiara; Scienza, Renato; Semenza, Carlo

    2015-05-01

    Preservation of calculation processing in brain surgery is crucial for patients' quality of life. Over the last decade, surgical electrostimulation was used to identify and preserve the cortical areas involved in such processing. Conversely, subcortical connectivity among different areas implicated in this function remains unclear, and the role of surgery in this domain has not been explored so far. The authors present the first 2 cases in which the subcortical functional sites involved in calculation were identified during right parietal lobe surgery. Two patients affected by a glioma located in the right parietal lobe underwent surgery with the aid of MRI neuronavigation. No calculation deficits were detected during preoperative assessment. Cortical and subcortical mapping were performed using a bipolar stimulator. The current intensity was determined by progressively increasing the amplitude by 0.5-mA increments (from a baseline of 1 mA) until a sensorimotor response was elicited. Then, addition and multiplication calculation tasks were administered. Corticectomy was performed according to both the MRI neuronavigation data and the functional findings obtained through cortical mapping. Direct subcortical electrostimulation was repeatedly performed during tumor resection. Subcortical functional sites for multiplication and addition were detected in both patients. Electrostimulation interfered with calculation processing during cortical mapping as well. Functional sites were spared during tumor removal. The postoperative course was uneventful, and calculation processing was preserved. Postoperative MRI showed complete resection of the tumor. The present preliminary study shows for the first time how functional mapping can be a promising method to intraoperatively identify the subcortical functional sites involved in calculation processing. This report therefore supports direct electrical stimulation as a promising tool to improve the current knowledge on

  12. Population interactions between parietal and primary motor cortices during reach

    PubMed Central

    Rao, Naveen G.; Bondy, Adrian; Truccolo, Wilson; Donoghue, John P.

    2014-01-01

    Neural interactions between parietal area 2/5 and primary motor cortex (M1) were examined to determine the timing and behavioral correlates of cortico-cortical interactions. Neural activity in areas 2/5 and M1 was simultaneously recorded with 96-channel microelectrode arrays in three rhesus monkeys performing a center-out reach task. We introduce a new method to reveal parietal-motor interactions at a population level using partial spike-field coherence (PSFC) between ensembles of neurons in one area and a local field potential (LFP) in another. PSFC reflects the extent of phase locking between spike times and LFP, after removing the coherence between LFPs in the two areas. Spectral analysis of M1 LFP revealed three bands: low, medium, and high, differing in power between movement preparation and performance. We focus on PSFC in the 1–10 Hz band, in which coherence was strongest. PSFC was also present in the 10–40 Hz band during movement preparation in many channels but generally nonsignificant in the 60–200 Hz band. Ensemble PSFC revealed stronger interactions than single cell-LFP pairings. PSFC of area 2/5 ensembles with M1 LFP typically rose around movement onset and peaked ∼500 ms afterward. PSFC was typically stronger for subsets of area 2/5 neurons and M1 LFPs with similar directional bias than for those with opposite bias, indicating that area 2/5 contributes movement direction information. Together with linear prediction of M1 LFP by area 2/5 spiking, the ensemble-LFP pairing approach reveals interactions missed by single neuron-LFP pairing, demonstrating that cortico-cortical communication can be more readily observed at the ensemble level. PMID:25210154

  13. Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression

    PubMed Central

    Quintana, Anita M.; Geiger, Elizabeth A.; Achilly, Nate; Rosenblatt, David S.; Maclean, Kenneth N.; Stabler, Sally P.; Artinger, Kristin B.; Appel, Bruce; Shaikh, Tamim H.

    2014-01-01

    Mutations in HCFC1 (MIM300019), have been recently associated with cblX (MIM309541), an X-linked, recessive disorder characterized by multiple congenital anomalies including craniofacial abnormalities. HCFC1 is a transcriptional co-regulator that modulates the expression of numerous downstream target genes including MMACHC, but it is not clear how these HCFC1 targets play a role in the clinical manifestations of cblX. To begin to elucidate the mechanism by which HCFC1 modulates disease phenotypes, we have carried out loss of function analyses in the developing zebrafish. Of the two HCFC1 orthologs in zebrafish, hcfc1a and hcfc1b, the loss of hcfc1b specifically results in defects in craniofacial development. Subsequent analysis revealed that hcfc1b regulates cranial neural crest cell differentiation and proliferation within the posterior pharyngeal arches. Further, the hcfc1b-mediated craniofacial abnormalities were rescued by expression of human MMACHC, a downstream target of HCFC1 that is aberrantly expressed in cblX. Furthermore, we tested distinct human HCFC1 mutations for their role in craniofacial development and demonstrated variable effects on MMACHC expression in humans and craniofacial development in zebrafish. Notably, several individuals with mutations in either HCFC1 or MMACHC have been reported to have mild to moderate facial dysmorphia. Thus, our data demonstrates that HCFC1 plays a role in craniofacial development, which is in part mediated through the regulation of MMACHC expression. PMID:25281006

  14. Intrauterine effect of dam on prenatal development of craniofacial complex of mouse embryo.

    PubMed

    Nonaka, K; Sasaki, Y; Yanagita, K; Matsumoto, T; Watanabe, Y; Nakata, M

    1993-01-01

    Embryo transfer effect and intrauterine effect of the dam on prenatal development of the craniofacial complex of mice embryos were investigated with the use of embryo transfer and cephalostat. DDD strain embryos were transferred to the three strains of recipients (DDD, C57BL, and DBA). The cephalometric observation of newborn offspring developed from transferred embryos was performed just after parturition. Dorso-ventral craniofacial size of newborn offspring was calculated using values of X- and Y-coordinates on a dorsoventral cephalogram. Statistical analysis showed that a significant intergroup difference in craniofacial size between transferred and nontransferred groups as well as a significant inter-strain difference among those of the three strains of recipients were observed. Thus, it was disclosed that embryo transfer technique might retard the prenatal development of craniofacial complex of transferred embryo and that the three strains of recipients contributed unequally to the prenatal development of craniofacial complex of transferred embryo through each of their intrauterine environments as a prenatal maternal effect. These results indicated that the intrauterine environment of the recipient played an important role in the prenatal development of the craniofacial complex of the mice embryo. PMID:8227293

  15. Cdh1 regulates craniofacial development via APC-dependent ubiquitination and activation of Goosecoid.

    PubMed

    Shao, Rui; Liu, Jia; Yan, Guang; Zhang, Jinfang; Han, Yujiao; Guo, Jianfeng; Xu, Zhan; Yuan, Zhu; Liu, Jiankang; Malumbres, Marcos; Wan, Lixin; Wei, Wenyi; Zou, Weiguo

    2016-06-01

    Craniofacial anomalies (CFAs) characterized by birth defects of skull and facial bones are the most frequent congenital disease. Genomic analysis has identified multiple genes responsible for CFAs; however, the underlying genetic mechanisms for the majority of CFAs remain largely unclear. Our previous study revealed that the Wwp2 E3 ubiquitin ligase facilitates craniofacial development in part through inducing monoubiquitination and activation of the paired-like homeobox transcription factor, Goosecoid (Gsc). Here we report that Gsc is also ubiquitinated and activated by the APC(Cdh1) E3 ubiquitin ligase, leading to transcriptional activation of various Gsc target genes crucial for craniofacial development. Consistenly, neural crest-specific Cdh1-knockout mice display similar bone malformation as Wwp2-deficient mice in the craniofacial region, characterized by a domed skull, a short snout and a twisted nasal bone. Mechanistically, like Wwp2-deficient mice, mice with Cdh1 deficiency in neural crest cells exhibit reduced Gsc/Sox6 transcriptional activities. Simultaneous deletion of Cdh1 and Wwp2 results in a more severe craniofacial defect compared with single gene deletion, suggesting a synergistic augmentation of Gsc activity by these two E3 ubiquitin ligases. Hence, our study reveals a novel role for Cdh1 in craniofacial development through promoting APC-dependent non-proteolytic ubiquitination and activation of Gsc. PMID:27126000

  16. The Role of Right and Left Parietal Lobes in the Conceptual Processing of Numbers

    ERIC Educational Resources Information Center

    Cappelletti, Marinella; Lee, Hwee Ling; Freeman, Elliot D.; Price, Cathy J.

    2010-01-01

    Neuropsychological and functional imaging studies have associated the conceptual processing of numbers with bilateral parietal regions (including intraparietal sulcus). However, the processes driving these effects remain unclear because both left and right posterior parietal regions are activated by many other conceptual, perceptual, attention,…

  17. The Contribution of the Inferior Parietal Cortex to Spoken Language Production

    ERIC Educational Resources Information Center

    Geranmayeh, Fatemeh; Brownsett, Sonia L. E.; Leech, Robert; Beckmann, Christian F.; Woodhead, Zoe; Wise, Richard J. S.

    2012-01-01

    This functional MRI study investigated the involvement of the left inferior parietal cortex (IPC) in spoken language production (Speech). Its role has been apparent in some studies but not others, and is not convincingly supported by clinical studies as they rarely include cases with lesions confined to the parietal lobe. We compared Speech with…

  18. Differences in biomechanical properties and thickness among frontal and parietal bones in a Japanese sample.

    PubMed

    Torimitsu, Suguru; Nishida, Yoshifumi; Takano, Tachio; Yajima, Daisuke; Inokuchi, Go; Makino, Yohsuke; Motomura, Ayumi; Chiba, Fumiko; Yamaguchi, Rutsuko; Hashimoto, Mari; Hoshioka, Yumi; Iwase, Hirotaro

    2015-07-01

    The aim of this study was to assess the mechanical properties and thickness of adult frontal and parietal bones. The heads of 114 Japanese cadavers (78 male cadavers and 36 female cadavers) of known age and sex were used. A total of 912 cranial samples, 8 from each skull, were collected. Samples were imaged using multidetector computed tomography to measure sample thickness. The fracture load of each sample was measured using a bending test with calculation of flexural strength. Statistical analyses demonstrated no significant bilateral difference in either the mechanical properties or thickness of frontal or parietal bones. The mechanical properties and thicknesses of frontal bones were significantly greater than those of parietal bones regardless of sex. Therefore, the skull may have a great ability to resist frontal impacts compared with parietal impacts. In female samples, parietal bones were found to have a more uniform structure when compared with male samples. Male parietal bones were found to be thicker at medial sites than at lateral sites. This study also revealed parietal bones at lateral sites in female samples were thicker than in male samples. No strong association was observed between age and flexural strength of frontal or parietal bones. However, the fracture load was negatively correlated with age most likely due to the reduction of thickness. PMID:25998720

  19. Dissociable Temporo-Parietal Memory Networks Revealed by Functional Connectivity during Episodic Retrieval

    PubMed Central

    Hirose, Satoshi; Kimura, Hiroko M.; Jimura, Koji; Kunimatsu, Akira; Abe, Osamu; Ohtomo, Kuni; Miyashita, Yasushi; Konishi, Seiki

    2013-01-01

    Episodic memory retrieval most often recruits multiple separate processes that are thought to involve different temporal regions. Previous studies suggest dissociable regions in the left lateral parietal cortex that are associated with the retrieval processes. Moreover, studies using resting-state functional connectivity (RSFC) have provided evidence for the temporo-parietal memory networks that may support the retrieval processes. In this functional MRI study, we tested functional significance of the memory networks by examining functional connectivity of brain activity during episodic retrieval in the temporal and parietal regions of the memory networks. Recency judgments, judgments of the temporal order of past events, can be achieved by at least two retrieval processes, relational and item-based. Neuroimaging results revealed several temporal and parietal activations associated with relational/item-based recency judgments. Significant RSFC was observed between one parahippocampal region and one left lateral parietal region associated with relational recency judgments, and between four lateral temporal regions and another left lateral parietal region associated with item-based recency judgments. Functional connectivity during task was found to be significant between the parahippocampal region and the parietal region in the RSFC network associated with relational recency judgments. However, out of the four tempo-parietal RSFC networks associated with item-based recency judgments, only one of them (between the left posterior lateral temporal region and the left lateral parietal region) showed significant functional connectivity during task. These results highlight the contrasting roles of the parahippocampal and the lateral temporal regions in recency judgments, and suggest that only a part of the tempo-parietal RSFC networks are recruited to support particular retrieval processes. PMID:24009657

  20. Intrinsic connections and architectonics of posterior parietal cortex in the rhesus monkey

    SciTech Connect

    Pandya, D.N.; Seltzer, B.

    1982-01-10

    By means of autoradiographic and ablation-degeneration techniques, the intrinsic cortical connections of the posterior parietal cortex in the rhesus monkey were traced and correlated with a reappraisal of cerebral architectonics. Two major rostral-to-caudal connectional sequences exist. One begins in the dorsal postcentral gyrus (area 2) and proceeds, through architectonic divisions of the superior parietal lobule (areas PE and PEc), to a cortical region on the medial surface of the parietal lobe (area PGm). This area has architectonic features similar to those of the caudal inferior parietal lobule (area PG). The second sequence begins in the ventral post/central gyrus (area 2) and passes through the rostral inferior parietal lobule (areas PG and PFG) to reach the caudal inferior parietal lobule (area PG). Both the superior parietal lobule and the rostral inferior parietal lobule also send projections to various other zones located in the parietal opercular region, the intraparietal sulcus, and the caudalmost portion of the cingulate sulcus. Areas PGm and PG, on the other hand, project to each other, to the cingulate region, to the caudalmost portion of the superior temporal gyrus, and to the upper bank of the superior temporal sulcus. Finally, a reciprocal sequence of connections, directed from caudal to rostral, links together many of the above-mentioned parietal zones. With regard to the laminar pattern of termination, the rostral-to-caudal connections are primarily distributed in the form of cortical ''columns'' while the caudal-to-rostral connections are found mainly over the first cortical cell layer.

  1. [Personal identification using information from cranio-facial region].

    PubMed

    Minaguchi, Kiyoshi

    2007-11-01

    Much of Forensic Odontology is concerned with personal identification, through examination of cranio-facial region. This paper describes several studies in which we worked with materials derived from cranio-facial region. The following topics are addressed : (1) Human saliva contains proteins specific to salivary glands, proteins which are highly polymorphic compared with those found in other body fluids. In particular, six genes for proline-rich proteins coded many proteins found in human saliva, and we found several of them. At least five kinds of cystatin are secreted in saliva. We constructed recombinant polymorphic proteins, cystatin SAl and SA2. Using these proteins, we compared effects of amino acid mutation on protease inhibitor activity, and demonstrated a novel function for type-2 cystatin cytokine-inducing activity. (2) Among autosomal STR loci, we identified the D12S67 locus as highly polymorphic, with a heterozygosity of 95%, by investigating differences in nucleotide repeat units. Highly polymorphic autosomal STR loci offer an effective forensic tool under certain conditions, in addition to multiplex PCR, and therefore merit further study in forensic practice. (3) Although digitalization is prevalent in photography, analog images are preferable in certain circumstances as they offer better resolution. (4) Usually, information on mtDNA polymorphisms from HV1 and HV2 in the control region is used in forensic practice. However, information from the coding region considerably increases the discrimination power of mtDNA polymorphisms. It is important to increase the volume of coding region information available with regard to mtDNA polymorphisms for future forensic practice. (5) Y-STR polymorphisms are closely associated with binary haplogroups, and it is possible to estimate a binary haplogroup from an STR haplotype. (6) Mitochondrial DNA and Y-chromosomal polymorphisms can be used to determine geographic origin in individuals from East Asia, something

  2. 30-year International Pediatric Craniofacial Surgery Partnership: Evolution from the “Third World” Forward

    PubMed Central

    Swanson, Jordan W.; Skirpan, Jan; Stanek, Beata; Kowalczyk, Maciej

    2016-01-01

    Background: Craniofacial diseases constitute an important component of the surgical disease burden in low- and middle-income countries. The consideration to introduce craniofacial surgery into such settings poses different questions, risks, and challenges compared with cleft or other forms of plastic surgery. We report the evolution, innovations, and challenges of a 30-year international craniofacial surgery partnership. Methods: We retrospectively report a partnership between surgeons at the Uniwersytecki Szpital Dzieciecy in Krakow, Poland, and a North American craniofacial surgeon. We studied patient conditions, treatment patterns, and associated complications, as well as program advancements and limitations as perceived by surgeons, patient families, and hospital administrators. Results: Since partnership inception in 1986, the complexity of cases performed increased gradually, with the first intracranial case performed in 1995. In the most recent 10-year period (2006–2015), 85 patients have been evaluated, with most common diagnoses of Apert syndrome, Crouzon syndrome, and single-suture craniosynostosis. In the same period, 55 major surgical procedures have been undertaken, with LeFort III midface distraction, posterior vault distraction, and frontoorbital advancement performed most frequently. Key innovations have been the employment of craniofacial distraction osteogenesis, the use of Internet communication and digital photography, and increased understanding of how craniofacial morphology may improve in the absence of surgical intervention. Ongoing challenges include prohibitive training pathways for pediatric plastic surgeons, difficulty in coordinating care with surgeons in other institutions, and limited medical and material resources. Conclusion: Safe craniofacial surgery can be introduced and sustained in a resource-limited setting through an international partnership. PMID:27200233

  3. True and false memories, parietal cortex, and confidence judgments.

    PubMed

    Urgolites, Zhisen J; Smith, Christine N; Squire, Larry R

    2015-11-01

    Recent studies have asked whether activity in the medial temporal lobe (MTL) and the neocortex can distinguish true memory from false memory. A frequent complication has been that the confidence associated with correct memory judgments (true memory) is typically higher than the confidence associated with incorrect memory judgments (false memory). Accordingly, it has often been difficult to know whether a finding is related to memory confidence or memory accuracy. In the current study, participants made recognition memory judgments with confidence ratings in response to previously studied scenes and novel scenes. The left hippocampus and 16 other brain regions distinguished true and false memories when confidence ratings were different for the two conditions. Only three regions (all in the parietal cortex) distinguished true and false memories when confidence ratings were equated. These findings illustrate the utility of taking confidence ratings into account when identifying brain regions associated with true and false memories. Neural correlates of true and false memories are most easily interpreted when confidence ratings are similar for the two kinds of memories. PMID:26472645

  4. Spatial invariance of visual receptive fields in parietal cortex neurons.

    PubMed

    Duhamel, J R; Bremmer, F; Ben Hamed, S; Graf, W

    1997-10-23

    Spatial information is conveyed to the primary visual cortex in retinal coordinates. Movement trajectory programming, however, requires a transformation from this sensory frame of reference into a frame appropriate for the selected part of the body, such as the eye, head or arms. To achieve this transformation, visual information must be combined with information from other sources: for instance, the location of an object of interest can be defined with respect to the observer's head if the position of the eyes in the orbit is known and is added to the object's retinal coordinates. Here we show that in a subdivision of the monkey parietal lobe, the ventral intraparietal area (VIP), the activity of visual neurons is modulated by eye-position signals, as in many other areas of the cortical visual system. We find that individual receptive fields of a population of VIP neurons are organized along a continuum, from eye to head coordinates. In the latter case, neurons encode the azimuth and/or elevation of a visual stimulus, independently of the direction in which the eyes are looking, thus representing spatial locations explicitly in at least a head-centred frame of reference. PMID:9349815

  5. Time Adaptation Shows Duration Selectivity in the Human Parietal Cortex

    PubMed Central

    Hayashi, Masamichi J.; Ditye, Thomas; Harada, Tokiko; Hashiguchi, Maho; Sadato, Norihiro; Carlson, Synnöve; Walsh, Vincent; Kanai, Ryota

    2015-01-01

    Although psychological and computational models of time estimation have postulated the existence of neural representations tuned for specific durations, empirical evidence of this notion has been lacking. Here, using a functional magnetic resonance imaging (fMRI) adaptation paradigm, we show that the inferior parietal lobule (IPL) (corresponding to the supramarginal gyrus) exhibited reduction in neural activity due to adaptation when a visual stimulus of the same duration was repeatedly presented. Adaptation was strongest when stimuli of identical durations were repeated, and it gradually decreased as the difference between the reference and test durations increased. This tuning property generalized across a broad range of durations, indicating the presence of general time-representation mechanisms in the IPL. Furthermore, adaptation was observed irrespective of the subject’s attention to time. Repetition of a nontemporal aspect of the stimulus (i.e., shape) did not produce neural adaptation in the IPL. These results provide neural evidence for duration-tuned representations in the human brain. PMID:26378440

  6. Contributions of cat posterior parietal cortex to visuospatial discrimination.

    PubMed

    Lomber, S G; Payne, B R

    2000-01-01

    The purpose of the present study was to examine the contributions made by cat posterior parietal cortex to the analyses of the relative position of objects in visual space. Two cats were trained on a landmark task in which they learned to report the position of a landmark object relative to a right or left food-reward chamber. Subsequently, three pairs of cooling loops were implanted bilaterally in contact with visuoparietal cortices forming the crown of the middle suprasylvian gyrus (MSg; architectonic area 7) and the banks of the posterior-middle suprasylvian sulcus (pMS sulcal cortex) and in contact with the ventral-posterior suprasylvian (vPS) region of visuotemporal cortex. Bilateral deactivation of pMS sulcal cortex resulted in a profound impairment for all six tested positions of the landmark, yet bilateral deactivation of neither area 7 nor vPS cortex yielded any deficits. In control tasks (visual orienting and object discrimination), there was no evidence for any degree of attentional blindness or impairment of form discrimination during bilateral deactivation of pMS cortex. Therefore, we conclude that bilateral cooling of pMS cortex, but neither area 7 nor vPS cortex, induces a specific deficit in spatial localization as examined with the landmark task. These observations have significant bearing on our understanding of visuospatial processing in cat, monkey, and human cortices. PMID:11153650

  7. The Nervous System Orchestrates and Integrates Craniofacial Development: A Review

    PubMed Central

    Adameyko, Igor; Fried, Kaj

    2016-01-01

    Development of a head is a dazzlingly complex process: a number of distinct cellular sources including cranial ecto- and endoderm, mesoderm and neural crest contribute to facial and other structures. In the head, an extremely fine-tuned developmental coordination of CNS, peripheral neural components, sensory organs and a musculo-skeletal apparatus occurs, which provides protection and functional integration. The face can to a large extent be considered as an assembly of sensory systems encased and functionally fused with appendages represented by jaws. Here we review how the developing brain, neurogenic placodes and peripheral nerves influence the morphogenesis of surrounding tissues as a part of various general integrative processes in the head. The mechanisms of this impact, as we understand it now, span from the targeted release of the morphogens necessary for shaping to providing a niche for cellular sources required in later development. In this review we also discuss the most recent findings and ideas related to how peripheral nerves and nerve-associated cells contribute to craniofacial development, including teeth, during the post- neural crest period and potentially in regeneration. PMID:26924989

  8. The Nervous System Orchestrates and Integrates Craniofacial Development: A Review.

    PubMed

    Adameyko, Igor; Fried, Kaj

    2016-01-01

    Development of a head is a dazzlingly complex process: a number of distinct cellular sources including cranial ecto- and endoderm, mesoderm and neural crest contribute to facial and other structures. In the head, an extremely fine-tuned developmental coordination of CNS, peripheral neural components, sensory organs and a musculo-skeletal apparatus occurs, which provides protection and functional integration. The face can to a large extent be considered as an assembly of sensory systems encased and functionally fused with appendages represented by jaws. Here we review how the developing brain, neurogenic placodes and peripheral nerves influence the morphogenesis of surrounding tissues as a part of various general integrative processes in the head. The mechanisms of this impact, as we understand it now, span from the targeted release of the morphogens necessary for shaping to providing a niche for cellular sources required in later development. In this review we also discuss the most recent findings and ideas related to how peripheral nerves and nerve-associated cells contribute to craniofacial development, including teeth, during the post- neural crest period and potentially in regeneration. PMID:26924989

  9. STRAIN-SPECIFIC MODIFIER GENES GOVERNING CRANIOFACIAL PHENOTYPES

    PubMed Central

    Mukhopadhyay, Partha; Brock, Guy; Webb, Cynthia; Pisano, M. Michele; Greene, Robert M

    2012-01-01

    BACKGROUND The presence of strain-specific modifier genes is known to modulate the phenotype and pathophysiology of mice harboring genetically engineered mutations. Thus, identification of genetic modifier genes is requisite to understanding control of phenotypic expression. c-Ski is a transcriptional regulator. Ski−/− mice on a C57BL6J (B6) background exhibit facial clefting, while Ski−/− mice on a 129P3 (129) background present with exencephaly. METHODS In the present study, oligonucleotide-based gene expression profiling was utilized to identify potential strain-specific modifier gene candidates present in wild-type mice of B6 and 129 genetic backgrounds. Changes in gene expression were verified by TaqMan quantitative real-time PCR. RESULTS Steady-state levels of 89 genes demonstrated a significantly higher level of expression, and those of 68 genes demonstrated a significantly lower level of expression in the developing neural tubes from E8.5, B6 embryos when compared to expression levels in neural tubes derived from E8.5, 129 embryos. CONCLUSIONS Based on the results from the current comparative microarray study, and taking into consideration a number of relevant published reports, several potential strain-specific gene candidates, likely to modify the craniofacial phenotypes in various knockout mouse models have been identified. PMID:22371338

  10. A standardized nomenclature for craniofacial and facial anthropometry.

    PubMed

    Caple, Jodi; Stephan, Carl N

    2016-05-01

    Standardized terms and methods have long been recognized as crucial to reduce measurement error and increase reliability in anthropometry. The successful prior use of craniometric landmarks makes extrapolation of these landmarks to the soft tissue context, as analogs, intuitive for forensic craniofacial analyses and facial photogrammetry. However, this extrapolation has not, so far, been systematic. Instead, varied nomenclature and definitions exist for facial landmarks, and photographic analyses are complicated by the generalization of 3D craniometric landmarks to the 2D face space where analogy is subsequently often lost, complicating anatomical assessments. For example, landmarks requiring palpation of the skull or the examination of the 3D surface typology are impossible to legitimately position; similar applies to median landmarks not visible in lateral photographs. To redress these issues without disposing of the craniometric framework that underpins many facial landmarks, we provide an updated and transparent nomenclature for facial description. This nomenclature maintains the original craniometric intent (and base abbreviations) but provides clear distinction of ill-defined (quasi) landmarks in photographic contexts, as produced when anatomical points are subjectively inferred from shape-from-shading information alone. PMID:26662189

  11. Health policy and craniofacial care: issues in resource allocation.

    PubMed

    Strauss, R P

    1994-01-01

    The distribution of health care services, including craniofacial services in the United States, is examined. The U.S. has a unique health care financing and organizational system in which persons are most commonly covered by health insurance as a benefit of their employment. Current estimates are that nearly 40 million Americans have no health insurance (Himmelstein et al., 1992). Approximately half of the uninsured persons are in low-wage employment that does not provide health insurance benefits nor allow them to qualify for Medicaid (Pepper Commission, 1990). Personal health care costs now exceed 11% of the U.S. gross domestic product, a significantly higher percentage than that found in other industrialized nations (Consumer Reports, 1990b). Within the current system, is health care distributed in a fair or moral manner? What are the effects of the allocation scheme? Possible changes in health care financing and delivery are examined and basic ethical and social issues associated with a changing U.S. health care delivery system are explored. PMID:8130247

  12. Classification and craniofacial features of gummy smile in adolescents.

    PubMed

    Wu, Hao; Lin, Jie; Zhou, Li; Bai, Ding

    2010-09-01

    Classification of gummy smile was tried first according to gingival exposure site during posed smile, then several items were measured on cephalometric radiograph to analyze the morphologic features in both sexes and further divided into subgroups. Two hundred twenty-eight adolescents with gingival display of more than 2 mm during smile were clustered according to gingival exposure site. Measurements of 18 pertinent items with great clinical concern or controversy in previous study in each groups were compared with corresponding references. Four distinctive types of gummy smile could be distinguished, and they exposed a continuous band, posterior parts, and one side or anterior part of upper gingiva, respectively. The type exposing a continuous band of upper gingiva took up the majority (200 cases, 88%) of all subjects and were chosen for further cephalometric analysis. Among the characteristic features of gummy smile, adolescents have skeletal class II relationship, vertical growth pattern, retrusive mandible, excessive anterior maxillary height, labially inclined upper incisors and upper lip, great overjet and overbite, and relatively short lip compared with anterior maxillary height. Skeletal class III relationship and horizontal growth pattern were absolutely absent. As a result, treatment planning should be adjusted according to the exposure site and craniofacial feature of each individual patient to obtain the best result. PMID:20856039

  13. Influence of monkey dorsolateral prefrontal and posterior parietal activity on behavioral choice during attention tasks.

    PubMed

    Katsuki, Fumi; Saito, Mizuki; Constantinidis, Christos

    2014-09-01

    The dorsolateral prefrontal and the posterior parietal cortex have both been implicated in the guidance of visual attention. Traditionally, posterior parietal cortex has been thought to guide visual bottom-up attention and prefrontal cortex to bias attention through top-down information. More recent studies suggest a parallel time course of activation of the two areas in bottom-up attention tasks, suggesting a common involvement, though these results do not necessarily imply identical roles. To address the specific roles of the two areas, we examined the influence of neuronal activity recorded from the prefrontal and parietal cortex of monkeys as they performed attention tasks based on choice probability and on correlation between reaction time and neuronal activity. The results revealed that posterior parietal but not dorsolateral prefrontal activity correlated with behavioral choice during the fixation period, prior to the appearance of the stimulus, resembling a bias factor. This preferential influence of posterior parietal activity on behavior was transient, so that dorsolateral prefrontal activity predicted choice after the appearance of the stimulus. Additionally, reaction time was better predicted by posterior parietal activity. These findings confirm the involvement of both dorsolateral prefrontal and posterior parietal cortex in the bottom-up guidance of visual attention, but indicate different roles of the two areas in the guidance of attention and a dynamic time course of their effects, influencing behavior at different stages of the task. PMID:24964224

  14. Cortical connectivity maps reveal anatomically distinct areas in the parietal cortex of the rat

    PubMed Central

    Wilber, Aaron A.; Clark, Benjamin J.; Demecha, Alexis J.; Mesina, Lilia; Vos, Jessica M.; McNaughton, Bruce L.

    2015-01-01

    A central feature of theories of spatial navigation involves the representation of spatial relationships between objects in complex environments. The parietal cortex has long been linked to the processing of spatial visual information and recent evidence from single unit recording in rodents suggests a role for this region in encoding egocentric and world-centered frames. The rat parietal cortex can be subdivided into four distinct rostral-caudal and medial-lateral regions, which includes a zone previously characterized as secondary visual cortex. At present, very little is known regarding the relative connectivity of these parietal subdivisions. Thus, we set out to map the connectivity of the entire anterior-posterior and medial-lateral span of this region. To do this we used anterograde and retrograde tracers in conjunction with open source neuronal segmentation and tracer detection tools to generate whole brain connectivity maps of parietal inputs and outputs. Our present results show that inputs to the parietal cortex varied significantly along the medial-lateral, but not the rostral-caudal axis. Specifically, retrosplenial connectivity is greater medially, but connectivity with visual cortex, though generally sparse, is more significant laterally. Finally, based on connection density, the connectivity between parietal cortex and hippocampus is indirect and likely achieved largely via dysgranular retrosplenial cortex. Thus, similar to primates, the parietal cortex of rats exhibits a difference in connectivity along the medial-lateral axis, which may represent functionally distinct areas. PMID:25601828

  15. Combined frontal and parietal P300 amplitudes indicate compensated cognitive processing across the lifespan

    PubMed Central

    van Dinteren, Rik; Arns, Martijn; Jongsma, Marijtje L. A.; Kessels, Roy P. C.

    2014-01-01

    In the present study the frontal and parietal P300, elicited in an auditory oddball paradigm were investigated in a large sample of healthy participants (N = 1572), aged 6–87. According to the concepts of the compensation-related utilization of neural circuits hypothesis (CRUNCH) it was hypothesized that the developmental trajectories of the frontal P300 would reach a maximum in amplitude at an older age than the amplitude of the parietal P300 amplitude. In addition, the amplitude of the frontal P300 was expected to increase with aging in adulthood in contrast to a decline in amplitude of the parietal P300 amplitude. Using curve-fitting methods, a comparison was made between the developmental trajectories of the amplitudes of the frontal and parietal P300. It was found that the developmental trajectories of frontal and parietal P300 amplitudes differed significantly across the lifespan. During adulthood, the amplitude of the parietal P300 declines with age, whereas both the frontal P300 amplitude and behavioral performance remain unaffected. A lifespan trajectory of combined frontal and parietal P300 amplitudes was found to closely resemble the lifespan trajectory of behavioral performance. Our results can be understood within the concepts of CRUNCH. That is, to compensate for declining neural resources, older participants recruit additional neural resources of prefrontal origin and consequently preserve a stable behavioral performance. Though, a direct relation between amplitude of the frontal P300 and compensatory mechanisms cannot yet be claimed. PMID:25386141

  16. Sex Differences in Parietal Lobe Morphology: Relationship to Mental Rotation Performance

    PubMed Central

    Koscik, Tim; O’Leary, Dan; Moser, David J.; Andreasen, Nancy C.; Nopoulos, Peg

    2009-01-01

    Structural magnetic resonance imaging (MRI) studies of the human brain have reported evidence for sexual dimorphism. In addition to sex differences in overall cerebral volume, differences in the proportion of gray matter (GM) to white matter (WM) volume have been observed, particularly in the parietal lobe. To our knowledge there have been no studies examining the relationship between the sex differences in parietal lobe structure and function. The parietal lobe is thought to be involved in spatial ability, and particularly involved in mental rotation. The purpose of this study is to examine whether sex differences in parietal lobe structure are present, and if present to relate these differences to performance on the Mental Rotations Test (MRT). We found that women had proportionately greater gray matter volume in the parietal lobe compared to men, and this morphologic difference was disadvantageous for women in terms of performance on the MRT. In contrast, we found that men compared to women had proportionately greater parietal lobe surface area, and this morphologic difference was associated with a performance advantage for men on mental rotation. These findings support the possibility that the sexual dimorphism in the structure of the parietal lobe is a neurobiological substrate for the sex difference in performance on the Mental Rotations Test. PMID:18980790

  17. The parietal cortex and saccade planning: lessons from human lesion studies

    PubMed Central

    Ptak, Radek; Müri, René M.

    2013-01-01

    The parietal cortex is a critical interface for attention and integration of multiple sensory signals that can be used for the implementation of motor plans. Many neurons in this region exhibit strong attention-, reach-, grasp- or saccade-related activity. Here, we review human lesion studies supporting the critical role of the parietal cortex in saccade planning. Studies of patients with unilateral parietal damage and spatial neglect reveal characteristic spatially lateralized deficits of saccade programming when multiple stimuli compete for attention. However, these patients also show bilateral impairments of saccade initiation and control that are difficult to explain in the context of their lateralized deficits of visual attention. These findings are reminiscent of the deficits of oculomotor control observed in patients with Bálint's syndrome consecutive to bilateral parietal damage. We propose that some oculomotor deficits following parietal damage are compatible with a decisive role of the parietal cortex in saccade planning under conditions of sensory competition, while other deficits reflect disinhibition of low-level structures of the oculomotor network in the absence of top-down parietal modulation. PMID:23759723

  18. Three-Dimensional Bioprinting for Regenerative Dentistry and Craniofacial Tissue Engineering.

    PubMed

    Obregon, F; Vaquette, C; Ivanovski, S; Hutmacher, D W; Bertassoni, L E

    2015-09-01

    Craniofacial tissues are organized with complex 3-dimensional (3D) architectures. Mimicking such 3D complexity and the multicellular interactions naturally occurring in craniofacial structures represents one of the greatest challenges in regenerative dentistry. Three-dimensional bioprinting of tissues and biological structures has been proposed as a promising alternative to address some of these key challenges. It enables precise manufacture of various biomaterials with complex 3D architectures, while being compatible with multiple cell sources and being customizable to patient-specific needs. This review describes different 3D bioprinting methods and summarizes how different classes of biomaterials (polymer hydrogels, ceramics, composites, and cell aggregates) may be used for 3D biomanufacturing of scaffolds, as well as craniofacial tissue analogs. While the fabrication of scaffolds upon which cells attach, migrate, and proliferate is already in use, printing of all the components that form a tissue (living cells and matrix materials together) to produce tissue constructs is still in its early stages. In summary, this review seeks to highlight some of the key advantages of 3D bioprinting technology for the regeneration of craniofacial structures. Additionally, it stimulates progress on the development of strategies that will promote the translation of craniofacial tissue engineering from the laboratory bench to the chair side. PMID:26124216

  19. Crude oil exposures reveal roles for intracellular calcium cycling in haddock craniofacial and cardiac development

    NASA Astrophysics Data System (ADS)

    Sørhus, Elin; Incardona, John P.; Karlsen, Ørjan; Linbo, Tiffany; Sørensen, Lisbet; Nordtug, Trond; van der Meeren, Terje; Thorsen, Anders; Thorbjørnsen, Maja; Jentoft, Sissel; Edvardsen, Rolf B.; Meier, Sonnich

    2016-08-01

    Recent studies have shown that crude oil exposure affects cardiac development in fish by disrupting excitation-contraction (EC) coupling. We previously found that eggs of Atlantic haddock (Melanogrammus aeglefinus) bind dispersed oil droplets, potentially leading to more profound toxic effects from uptake of polycyclic aromatic hydrocarbons (PAHs). Using lower concentrations of dispersed crude oil (0.7–7 μg/L ∑PAH), here we exposed a broader range of developmental stages over both short and prolonged durations. We quantified effects on cardiac function and morphogenesis, characterized novel craniofacial defects, and examined the expression of genes encoding potential targets underlying cardiac and craniofacial defects. Because of oil droplet binding, a 24-hr exposure was sufficient to create severe cardiac and craniofacial abnormalities. The specific nature of the craniofacial abnormalities suggests that crude oil may target common craniofacial and cardiac precursor cells either directly or indirectly by affecting ion channels and intracellular calcium in particular. Furthermore, down-regulation of genes encoding specific components of the EC coupling machinery suggests that crude oil disrupts excitation-transcription coupling or normal feedback regulation of ion channels blocked by PAHs. These data support a unifying hypothesis whereby depletion of intracellular calcium pools by crude oil-derived PAHs disrupts several pathways critical for organogenesis in fish.

  20. Crude oil exposures reveal roles for intracellular calcium cycling in haddock craniofacial and cardiac development.

    PubMed

    Sørhus, Elin; Incardona, John P; Karlsen, Ørjan; Linbo, Tiffany; Sørensen, Lisbet; Nordtug, Trond; van der Meeren, Terje; Thorsen, Anders; Thorbjørnsen, Maja; Jentoft, Sissel; Edvardsen, Rolf B; Meier, Sonnich

    2016-01-01

    Recent studies have shown that crude oil exposure affects cardiac development in fish by disrupting excitation-contraction (EC) coupling. We previously found that eggs of Atlantic haddock (Melanogrammus aeglefinus) bind dispersed oil droplets, potentially leading to more profound toxic effects from uptake of polycyclic aromatic hydrocarbons (PAHs). Using lower concentrations of dispersed crude oil (0.7-7 μg/L ∑PAH), here we exposed a broader range of developmental stages over both short and prolonged durations. We quantified effects on cardiac function and morphogenesis, characterized novel craniofacial defects, and examined the expression of genes encoding potential targets underlying cardiac and craniofacial defects. Because of oil droplet binding, a 24-hr exposure was sufficient to create severe cardiac and craniofacial abnormalities. The specific nature of the craniofacial abnormalities suggests that crude oil may target common craniofacial and cardiac precursor cells either directly or indirectly by affecting ion channels and intracellular calcium in particular. Furthermore, down-regulation of genes encoding specific components of the EC coupling machinery suggests that crude oil disrupts excitation-transcription coupling or normal feedback regulation of ion channels blocked by PAHs. These data support a unifying hypothesis whereby depletion of intracellular calcium pools by crude oil-derived PAHs disrupts several pathways critical for organogenesis in fish. PMID:27506155

  1. The face, the future, and dental practice: how research in craniofacial biology will influence patient care.

    PubMed

    Townsend, G C; Brook, A H

    2014-06-01

    It has been a privilege to assemble a group of Australian and international researchers to produce a special issue of the Australian Dental Journal that reflects the cutting edge of research in different aspects of craniofacial biology, and also considers how these advances will influence future education and practice within dentistry. The aim of this special issue is to provide a collection of concept papers and critical reviews on key topics that cover both fundamental and applied research in craniofacial biology and to consider the clinical implications. To do this, four questions have been addressed that lead to the four sections of this issue. These are: How have we come to the present exciting position in craniofacial biology with breakthroughs over the past 50 years? What are current fundamental research topics that are helping us to understand more about craniofacial and general development, possibly leading to future clinical developments? What are the current applied research topics that will influence future clinical practice? Looking forward, what new developments in craniofacial biology may come about that will change the face of dental education and practice? The refereed papers in this special issue are grouped into the four sections that seek to respond to these demanding questions. PMID:24646132

  2. Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia

    PubMed Central

    Goodwin, Alice F; Larson, Jacinda R; Jones, Kyle B; Liberton, Denise K; Landan, Maya; Wang, Zhifeng; Boekelheide, Anne; Langham, Margaret; Mushegyan, Vagan; Oberoi, Snehlata; Brao, Rosalie; Wen, Timothy; Johnson, Ramsey; Huttner, Kenneth; Grange, Dorothy K; Spritz, Richard A; Hallgrímsson, Benedikt; Jheon, Andrew H; Klein, Ophir D

    2014-01-01

    Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ectodermal dysplasia (ED). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. The X-linked recessive (XL), autosomal recessive (AR), and autosomal dominant (AD) types of HED are caused by mutations in the genes encoding ectodysplasin (EDA1), EDA receptor (EDAR), or EDAR-associated death domain (EDARADD). Patients with HED have a distinctive facial appearance, yet a quantitative analysis of the HED craniofacial phenotype using advanced three-dimensional (3D) technologies has not been reported. In this study, we characterized craniofacial morphology in subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED) by use of 3D imaging and geometric morphometrics (GM), a technique that uses defined landmarks to quantify size and shape in complex craniofacial morphologies. We found that the XLHED craniofacial phenotype differed significantly from controls. Patients had a smaller and shorter face with a proportionally longer chin and midface, prominent midfacial hypoplasia, a more protrusive chin and mandible, a narrower and more pointed nose, shorter philtrum, a narrower mouth, and a fuller and more rounded lower lip. Our findings refine the phenotype of XLHED and may be useful both for clinical diagnosis of XLHED and to extend understanding of the role of EDA in craniofacial development. PMID:25333067

  3. Application of three-dimensional computed tomography in craniofacial clinical practice and research.

    PubMed

    Anderson, P J; Yong, R; Surman, T L; Rajion, Z A; Ranjitkar, S

    2014-06-01

    Following the invention of the first computed tomography (CT) scanner in the early 1970s, many innovations in three-dimensional (3D) diagnostic imaging technology have occurred, leading to a wide range of applications in craniofacial clinical practice and research. Three-dimensional image analysis provides superior and more detailed information compared with conventional plain two-dimensional (2D) radiography, with the added benefit of 3D printing for preoperative treatment planning and regenerative therapy. Current state-of-the-art multidetector CT (MDCT), also known as medical CT, has an important role in the diagnosis and management of craniofacial injuries and pathology. Three-dimensional cone beam CT (CBCT), pioneered in the 1990s, is gaining increasing popularity in dental and craniofacial clinical practice because of its faster image acquisition at a lower radiation dose, but sound guidelines are needed to ensure its optimal clinical use. Recent innovations in micro-computed tomography (micro-CT) have revolutionized craniofacial biology research by enabling higher resolution scanning of teeth beyond the capabilities of MDCT and CBCT, presenting new prospects for translational clinical research. Even after four decades of refinement, CT technology continues to advance and broaden the horizons of craniofacial clinical practice and phenomics research. PMID:24611727

  4. A systematic review of the oral and craniofacial manifestations of cri du chat syndrome.

    PubMed

    Corcuera-Flores, José-Ramón; Casttellanos-Cosano, Lizett; Torres-Lagares, Daniel; Serrera-Figallo, María Ángeles; Rodríguez-Caballero, Ángela; Machuca-Portillo, Guillermo

    2016-07-01

    Cri du chat syndrome is an autosomal disorder. Because it affects few people in the population it is considered a rare disease, yet it is one of the most common autosomal chromosomal syndromes in humans. It entails pathognomonic alterations that affect the craniofacial and oral anatomy of patients. The aim of this study is to review these craniofacial and oral abnormalities in patients with Cri du chat syndrome. The PubMed Medline database was searched using two different strategies. First, we used "Dentistry" and "Cri du chat" as keywords; second, we used "Cri du chat" and "craniofacial." Seven articles in which the main orofacial and cranio-skeletal characteristics of patients with Cri du chat syndrome were described were selected according to the inclusion and exclusion criteria. Cri du Chat syndrome entails pathognomonic characteristics in the craniofacial area (epicanthus, short philtrum, and wide nasal bridge), the oral area (mandibular retrognathism and anterior open bite) and the cranial region (alterations at the cranial base angle and a small upper airway). However, more studies on larger samples are needed to specify the orofacial and craniofacial characteristics of patients with Cri du chat syndrome more accurately. Clin. Anat. 29:555-560, 2016. © 2015 Wiley Periodicals, Inc. PMID:26457586

  5. Perinatal stem cells: A promising cell resource for tissue engineering of craniofacial bone

    PubMed Central

    Si, Jia-Wen; Wang, Xu-Dong; Shen, Steve GF

    2015-01-01

    In facing the mounting clinical challenge and suboptimal techniques of craniofacial bone defects resulting from various conditions, such as congenital malformations, osteomyelitis, trauma and tumor resection, the ongoing research of regenerative medicine using stem cells and concurrent advancement in biotechnology have shifted the focus from surgical reconstruction to a novel stem cell-based tissue engineering strategy for customized and functional craniofacial bone regeneration. Given the unique ontogenetical and cell biological properties of perinatal stem cells, emerging evidence has suggested these extraembryonic tissue-derived stem cells to be a promising cell source for extensive use in regenerative medicine and tissue engineering. In this review, we summarize the current achievements and obstacles in stem cell-based craniofacial bone regeneration and subsequently we address the characteristics of various types of perinatal stem cells and their novel application in tissue engineering of craniofacial bone. We propose the promising feasibility and scope of perinatal stem cell-based craniofacial bone tissue engineering for future clinical application. PMID:25621114

  6. Utilizing the chicken as an animal model for human craniofacial ciliopathies.

    PubMed

    Schock, Elizabeth N; Chang, Ching-Fang; Youngworth, Ingrid A; Davey, Megan G; Delany, Mary E; Brugmann, Samantha A

    2016-07-15

    The chicken has been a particularly useful model for the study of craniofacial development and disease for over a century due to their relatively large size, accessibility, and amenability for classical bead implantation and transplant experiments. Several naturally occurring mutant lines with craniofacial anomalies also exist and have been heavily utilized by developmental biologist for several decades. Two of the most well known lines, talpid(2) (ta(2)) and talpid(3) (ta(3)), represent the first spontaneous mutants to have the causative genes identified. Despite having distinct genetic causes, both mutants have recently been identified as ciliopathic. Excitingly, both of these mutants have been classified as models for human craniofacial ciliopathies: Oral-facial-digital syndrome (ta(2)) and Joubert syndrome (ta(3)). Herein, we review and compare these two models of craniofacial disease and highlight what they have revealed about the molecular and cellular etiology of ciliopathies. Furthermore, we outline how applying classical avian experiments and new technological advances (transgenics and genome editing) with naturally occurring avian mutants can add a tremendous amount to what we currently know about craniofacial ciliopathies. PMID:26597494

  7. Crude oil exposures reveal roles for intracellular calcium cycling in haddock craniofacial and cardiac development

    PubMed Central

    Sørhus, Elin; Incardona, John P.; Karlsen, Ørjan; Linbo, Tiffany; Sørensen, Lisbet; Nordtug, Trond; van der Meeren, Terje; Thorsen, Anders; Thorbjørnsen, Maja; Jentoft, Sissel; Edvardsen, Rolf B.; Meier, Sonnich

    2016-01-01

    Recent studies have shown that crude oil exposure affects cardiac development in fish by disrupting excitation-contraction (EC) coupling. We previously found that eggs of Atlantic haddock (Melanogrammus aeglefinus) bind dispersed oil droplets, potentially leading to more profound toxic effects from uptake of polycyclic aromatic hydrocarbons (PAHs). Using lower concentrations of dispersed crude oil (0.7–7 μg/L ∑PAH), here we exposed a broader range of developmental stages over both short and prolonged durations. We quantified effects on cardiac function and morphogenesis, characterized novel craniofacial defects, and examined the expression of genes encoding potential targets underlying cardiac and craniofacial defects. Because of oil droplet binding, a 24-hr exposure was sufficient to create severe cardiac and craniofacial abnormalities. The specific nature of the craniofacial abnormalities suggests that crude oil may target common craniofacial and cardiac precursor cells either directly or indirectly by affecting ion channels and intracellular calcium in particular. Furthermore, down-regulation of genes encoding specific components of the EC coupling machinery suggests that crude oil disrupts excitation-transcription coupling or normal feedback regulation of ion channels blocked by PAHs. These data support a unifying hypothesis whereby depletion of intracellular calcium pools by crude oil-derived PAHs disrupts several pathways critical for organogenesis in fish. PMID:27506155

  8. Potential relationship of self-injurious behavior to right temporo-parietal lesions.

    PubMed

    Borah, Shaina; McConnell, Brice; Hughes, Richard; Kluger, Benzi

    2016-06-01

    Self-injurious behavior (SIB) is associated with several neurologic and psychiatric syndromes but rarely with focal lesions. Two patients with lesions of the right temporo-parietal junction presented to psychiatric inpatient services with SIB in the absence of notable neurologic deficits or suicidal ideation. Right temporo-parietal lesions may be associated with disturbances of agency and body ownership, both of which may facilitate SIB. Misoplegia, or hatred of a limb, may be associated with SIB and has been reported without hemiplegia with a right temporo-parietal lesion. Further study is warranted to improve our understanding of the mechanisms underlying SIB. PMID:26882285

  9. Abstract categories of functions in anterior parietal lobe.

    PubMed

    Leshinskaya, Anna; Caramazza, Alfonso

    2015-09-01

    Knowledge of function is critical for selecting objects to meet action goals, even when the affordances of those objects are not mechanical-for instance, both a painting and a vase can decorate a room. To identify neural representations of such abstract function concepts, we asked participants in an fMRI scanner to view a variety of objects and evaluate their utility to each of four goals (two Decoration goals: dress up for a night out and decorate a house, and two Protection goals: protect your body from the cold and keep objects dry in a flooded basement). These task conditions differed in the kind of functional evaluation participants had to perform over objects, but did not vary in the objects themselves. We performed a searchlight multivariate pattern analysis to identify cortical representations in which neural patterns were more similar for the pairs of similar-goal than dissimilar-goal task conditions (Decorate vs. Protect). We report such effects in anterior inferior parietal lobe (aIPL) close to regions typically reported for processing tool-related actions, and thought to be important for representing how they are manipulated. However, the current study design fully controlled for manipulation similarity, which predicted orthogonal relationships among the conditions. We conclude that the aIPL likely has nearby, but distinct, representations of both manipulation and function knowledge, and thereby may have a broader role in understanding how objects can be used, representing not just physical affordances but also abstract functional criteria such as esthetic value or purpose categories such as decorate. This pattern of localization has implications for how semantic knowledge is organized in the brain. PMID:25592369

  10. Hand Shape Representations in the Human Posterior Parietal Cortex

    PubMed Central

    Klaes, Christian; Kellis, Spencer; Aflalo, Tyson; Lee, Brian; Pejsa, Kelsie; Shanfield, Kathleen; Hayes-Jackson, Stephanie; Aisen, Mindy; Heck, Christi; Liu, Charles

    2015-01-01

    Humans shape their hands to grasp, manipulate objects, and to communicate. From nonhuman primate studies, we know that visual and motor properties for grasps can be derived from cells in the posterior parietal cortex (PPC). Are non-grasp-related hand shapes in humans represented similarly? Here we show for the first time how single neurons in the PPC of humans are selective for particular imagined hand shapes independent of graspable objects. We find that motor imagery to shape the hand can be successfully decoded from the PPC by implementing a version of the popular Rock-Paper-Scissors game and its extension Rock-Paper-Scissors-Lizard-Spock. By simultaneous presentation of visual and auditory cues, we can discriminate motor imagery from visual information and show differences in auditory and visual information processing in the PPC. These results also demonstrate that neural signals from human PPC can be used to drive a dexterous cortical neuroprosthesis. SIGNIFICANCE STATEMENT This study shows for the first time hand-shape decoding from human PPC. Unlike nonhuman primate studies in which the visual stimuli are the objects to be grasped, the visually cued hand shapes that we use are independent of the stimuli. Furthermore, we can show that distinct neuronal populations are activated for the visual cue and the imagined hand shape. Additionally we found that auditory and visual stimuli that cue the same hand shape are processed differently in PPC. Early on in a trial, only the visual stimuli and not the auditory stimuli can be decoded. During the later stages of a trial, the motor imagery for a particular hand shape can be decoded for both modalities. PMID:26586832

  11. Distinct relationships of parietal and prefrontal cortices to evidence accumulation

    PubMed Central

    Hanks, Timothy; Kopec, Charles D.; Brunton, Bingni W.; Duan, Chunyu A.; Erlich, Jeffrey C.; Brody, Carlos D.

    2014-01-01

    Gradual accumulation of evidence is thought to be fundamental for decision-making, and its neural correlates have been found in multiple brain regions1–8. Here we develop a generalizable method to measure tuning curves that specify the relationship between neural responses and mentally-accumulated evidence, and apply it to distinguish the encoding of decision variables in posterior parietal cortex (PPC) and prefrontal cortex (frontal orienting fields, FOF). We recorded the firing rates of neurons in PPC and FOF from rats performing a perceptual decision-making task. Classical analyses uncovered correlates of accumulating evidence, similar to previous observations in primates and also similar across the two regions. However, tuning curve assays revealed that while the PPC encodes a graded value of the accumulating evidence, the FOF has a more categorical encoding that indicates, throughout the trial, the decision provisionally favored by the evidence accumulated so far. Contrary to current views3,5,7–9, this suggests that premotor activity in frontal cortex does not play a role in the accumulation process, but instead has a more categorical function, such as transforming accumulated evidence into a discrete choice. To causally probe the role of FOF activity, we optogenetically silenced it during different timepoints of the trial. Consistent with a role in committing to a categorical choice at the end of the evidence accumulation process, but not consistent with a role during the accumulation itself, a behavioral effect was observed only when FOF silencing occurred at the end of the perceptual stimulus. Our results place important constraints on the circuit logic of brain regions involved in decision-making. PMID:25600270

  12. Heterogeneous and nonlinear development of human posterior parietal cortex function.

    PubMed

    Chang, Ting-Ting; Metcalfe, Arron W S; Padmanabhan, Aarthi; Chen, Tianwen; Menon, Vinod

    2016-02-01

    Human cognitive problem solving skills undergo complex experience-dependent changes from childhood to adulthood, yet most neurodevelopmental research has focused on linear changes with age. Here we challenge this limited view, and investigate spatially heterogeneous and nonlinear neurodevelopmental profiles between childhood, adolescence, and young adulthood, focusing on three cytoarchitectonically distinct posterior parietal cortex (PPC) regions implicated in numerical problem solving: intraparietal sulcus (IPS), angular gyrus (AG), and supramarginal gyrus (SMG). Adolescents demonstrated better behavioral performance relative to children, but their performance was equivalent to that of adults. However, all three groups differed significantly in their profile of activation and connectivity across the PPC subdivisions. Activation in bilateral ventral IPS subdivision IPS-hIP1, along with adjoining anterior AG subdivision, AG-PGa, and the posterior SMG subdivision, SMG-PFm, increased linearly with age, whereas the posterior AG subdivision, AG-PGp, was equally deactivated in all three groups. In contrast, the left anterior SMG subdivision, SMG-PF, showed an inverted U-shaped profile across age groups such that adolescents exhibited greater activation than both children and young adults. Critically, greater SMG-PF activation was correlated with task performance only in adolescents. Furthermore, adolescents showed greater task-related functional connectivity of the SMG-PF with ventro-temporal, anterior temporal and prefrontal cortices, relative to both children and adults. These results suggest that nonlinear up-regulation of SMG-PF and its interconnected functional circuits facilitate adult-level performance in adolescents. Our study provides novel insights into heterogeneous age-related maturation of the PPC underlying cognitive skill acquisition, and further demonstrates how anatomically precise analysis of both linear and nonlinear neurofunctional changes with age is

  13. A frontal but not parietal neural correlate of auditory consciousness.

    PubMed

    Brancucci, Alfredo; Lugli, Victor; Perrucci, Mauro Gianni; Del Gratta, Cosimo; Tommasi, Luca

    2016-01-01

    Hemodynamic correlates of consciousness were investigated in humans during the presentation of a dichotic sequence inducing illusory auditory percepts with features analogous to visual multistability. The sequence consisted of a variation of the original stimulation eliciting the Deutsch's octave illusion, created to maintain a stable illusory percept long enough to allow the detection of the underlying hemodynamic activity using functional magnetic resonance imaging (fMRI). Two specular 500 ms dichotic stimuli (400 and 800 Hz) presented in alternation by means of earphones cause an illusory segregation of pitch and ear of origin which can yield up to four different auditory percepts per dichotic stimulus. Such percepts are maintained stable when one of the two dichotic stimuli is presented repeatedly for 6 s, immediately after the alternation. We observed hemodynamic activity specifically accompanying conscious experience of pitch in a bilateral network including the superior frontal gyrus (SFG, BA9 and BA10), medial frontal gyrus (BA6 and BA9), insula (BA13), and posterior lateral nucleus of the thalamus. Conscious experience of side (ear of origin) was instead specifically accompanied by bilateral activity in the MFG (BA6), STG (BA41), parahippocampal gyrus (BA28), and insula (BA13). These results suggest that the neural substrate of auditory consciousness, differently from that of visual consciousness, may rest upon a fronto-temporal rather than upon a fronto-parietal network. Moreover, they indicate that the neural correlates of consciousness depend on the specific features of the stimulus and suggest the SFG-MFG and the insula as important cortical nodes for auditory conscious experience. PMID:25344118

  14. An Interesting Case of Penetrating Craniofacial Trauma Involving a Wooden Stick

    PubMed Central

    Kulkarni, Ambadas; Chandrasala, Soumithran; Vishnudas, Praveesh; Dev, Arul

    2016-01-01

    Penetrating craniofacial trauma, although uncommon, has a high potential for death or catastrophic consequences from head injury or vital neurovascular injuries. The foreign body may cause significant challenge, especially when it is a large one. Airway obstruction, vascular injuries, intracranial communication, ocular injury and injuries to any other adjacent vital structures when involved may change the treatment objectives from simple foreign body retrieval to a comprehensive multidisciplinary approach to stabilize the patient. Retrieval of foreign bodies may be challenging because of many factors including the size of the object, its site, and the surrounding anatomical structures. Accurate localization of the foreign body before removal is essential in craniofacial region. We present a case of penetrating craniofacial trauma from a wooden stick, with an in situ foreign body, that was managed by emergency surgical exploration in general anaesthesia and retrieval of foreign body in Toto under antibiotic coverage and tetanus prophylaxis. PMID:27190963

  15. Clinical Application of Three-Dimensional Printing Technology in Craniofacial Plastic Surgery

    PubMed Central

    Kim, Namkug

    2015-01-01

    Three-dimensional (3D) printing has been particularly widely adopted in medical fields. Application of the 3D printing technique has even been extended to bio-cell printing for 3D tissue/organ development, the creation of scaffolds for tissue engineering, and actual clinical application for various medical parts. Of various medical fields, craniofacial plastic surgery is one of areas that pioneered the use of the 3D printing concept. Rapid prototype technology was introduced in the 1990s to medicine via computer-aided design, computer-aided manufacturing. To investigate the current status of 3D printing technology and its clinical application, a systematic review of the literature was conducted. In addition, the benefits and possibilities of the clinical application of 3D printing in craniofacial surgery are reviewed, based on personal experiences with more than 500 craniofacial cases conducted using 3D printing tactile prototype models. PMID:26015880

  16. CRANIAL NEURAL CREST CELLS ON THE MOVE: THEIR ROLES IN CRANIOFACIAL DEVELOPMENT

    PubMed Central

    Cordero, Dwight R.; Brugmann, Samantha; Chu, Yvonne; Bajpai, Ruchi; Jame, Maryam; Helms, Jill A.

    2010-01-01

    The craniofacial region is assembled through the active migration of cells and the rearrangement and sculpting of facial prominences and pharyngeal arches, which consequently make it particularly susceptible to a large number of birth defects. Genetic, molecular, and cellular processes must be temporally and spatially regulated to culminate in the three-dimension structures of the face. The starting constituent for the majority of skeletal and connective tissues in the face is a pluripotent population of cells, the cranial neural crest cells (NCCs). In this review we discuss the newest scientific findings in the development of the craniofacial complex as related to NCCs. Furthermore, we present recent findings on NCC diseases called neurocristopathies and, in doing so, provide clinicians with new tools for understanding a growing number of craniofacial genetic disorders. PMID:21271641

  17. SRF regulates craniofacial development through selective recruitment of MRTF cofactors by PDGF signaling

    PubMed Central

    Vasudevan, Harish N.; Soriano, Philippe

    2014-01-01

    Summary Receptor tyrosine kinase signaling is critical for mammalian craniofacial development, but the key downstream transcriptional effectors remain unknown. We demonstrate that SRF is induced by both PDGF and FGF signaling in mouse embryonic palatal mesenchyme cells, and Srf neural crest conditional mutants exhibit facial clefting accompanied by proliferation and migration defects. Srf and Pdgfra mutants interact genetically in craniofacial development, but Srf and Fgfr1 mutants do not. This signal specificity is recapitulated at the level of cofactor activation: while both PDGF and FGF target gene promoters show enriched genome-wide overlap with SRF ChIP-seq peaks, PDGF selectively activates a network of MRTF-dependent cytoskeletal genes. Collectively, our results identify a novel role for SRF in proliferation and migration during craniofacial development and delineate a mechanism of receptor tyrosine kinase specificity mediated through differential cofactor usage, leading to a unique PDGF-responsive SRF-driven transcriptional program in the midface. PMID:25453829

  18. Dental and Nondental Stem Cell Based Regeneration of the Craniofacial Region: A Tissue Based Approach

    PubMed Central

    Hughes, Declan; Song, Bing

    2016-01-01

    Craniofacial reconstruction may be a necessary treatment for those who have been affected by trauma, disease, or pathological developmental conditions. The use of stem cell therapy and tissue engineering shows massive potential as a future treatment modality. Currently in the literature, there is a wide variety of published experimental studies utilising the different stem cell types available and the plethora of available scaffold materials. This review investigates different stem cell sources and their unique characteristics to suggest an ideal cell source for regeneration of individual craniofacial tissues. At present, understanding and clinical applications of stem cell therapy remain in their infancy with numerous challenges to overcome. In spite of this, the field displays immense capacity and will no doubt be utilised in future clinical treatments of craniofacial regeneration. PMID:27143979

  19. An Interesting Case of Penetrating Craniofacial Trauma Involving a Wooden Stick.

    PubMed

    Kulkarni, Ambadas; Chandrasala, Soumithran; Nimbeni, Basavaraj; Vishnudas, Praveesh; Dev, Arul

    2016-04-01

    Penetrating craniofacial trauma, although uncommon, has a high potential for death or catastrophic consequences from head injury or vital neurovascular injuries. The foreign body may cause significant challenge, especially when it is a large one. Airway obstruction, vascular injuries, intracranial communication, ocular injury and injuries to any other adjacent vital structures when involved may change the treatment objectives from simple foreign body retrieval to a comprehensive multidisciplinary approach to stabilize the patient. Retrieval of foreign bodies may be challenging because of many factors including the size of the object, its site, and the surrounding anatomical structures. Accurate localization of the foreign body before removal is essential in craniofacial region. We present a case of penetrating craniofacial trauma from a wooden stick, with an in situ foreign body, that was managed by emergency surgical exploration in general anaesthesia and retrieval of foreign body in Toto under antibiotic coverage and tetanus prophylaxis. PMID:27190963

  20. Cranial neural crest cells on the move: their roles in craniofacial development.

    PubMed

    Cordero, Dwight R; Brugmann, Samantha; Chu, Yvonne; Bajpai, Ruchi; Jame, Maryam; Helms, Jill A

    2011-02-01

    The craniofacial region is assembled through the active migration of cells and the rearrangement and sculpting of facial prominences and pharyngeal arches, which consequently make it particularly susceptible to a large number of birth defects. Genetic, molecular, and cellular processes must be temporally and spatially regulated to culminate in the three-dimension structures of the face. The starting constituent for the majority of skeletal and connective tissues in the face is a pluripotent population of cells, the cranial neural crest cells (NCCs). In this review we discuss the newest scientific findings in the development of the craniofacial complex as related to NCCs. Furthermore, we present recent findings on NCC diseases called neurocristopathies and, in doing so, provide clinicians with new tools for understanding a growing number of craniofacial genetic disorders. PMID:21271641

  1. 3D modeling, custom implants and its future perspectives in craniofacial surgery

    PubMed Central

    Parthasarathy, Jayanthi

    2014-01-01

    Custom implants for the reconstruction of craniofacial defects have gained importance due to better performance over their generic counterparts. This is due to the precise adaptation to the region of implantation, reduced surgical times and better cosmesis. Application of 3D modeling in craniofacial surgery is changing the way surgeons are planning surgeries and graphic designers are designing custom implants. Advances in manufacturing processes and ushering of additive manufacturing for direct production of implants has eliminated the constraints of shape, size and internal structure and mechanical properties making it possible for the fabrication of implants that conform to the physical and mechanical requirements of the region of implantation. This article will review recent trends in 3D modeling and custom implants in craniofacial reconstruction. PMID:24987592

  2. Stem cells of the suture mesenchyme in craniofacial bone development, repair and regeneration

    PubMed Central

    Maruyama, Takamitsu; Jeong, Jaeim; Sheu, Tzong-Jen; Hsu, Wei

    2016-01-01

    The suture mesenchyme serves as a growth centre for calvarial morphogenesis and has been postulated to act as the niche for skeletal stem cells. Aberrant gene regulation causes suture dysmorphogenesis resulting in craniosynostosis, one of the most common craniofacial deformities. Owing to various limitations, especially the lack of suture stem cell isolation, reconstruction of large craniofacial bone defects remains highly challenging. Here we provide the first evidence for an Axin2-expressing stem cell population with long-term self-renewing, clonal expanding and differentiating abilities during calvarial development and homeostastic maintenance. These cells, which reside in the suture midline, contribute directly to injury repair and skeletal regeneration in a cell autonomous fashion. Our findings demonstrate their true identity as skeletal stem cells with innate capacities to replace the damaged skeleton in cell-based therapy, and permit further elucidation of the stem cell-mediated craniofacial skeletogenesis, leading to revealing the complex nature of congenital disease and regenerative medicine. PMID:26830436

  3. Who decides? Patients, parents, or gatekeepers: pediatric decisions in the craniofacial setting.

    PubMed

    Mouradian, W E

    1995-11-01

    Special ethical issues arise for the craniofacial team dealing with pediatric patients, which include competency, surrogacy, and the "best interests" standard. Medical decisions for children are made by surrogates, usually parents, who must use the "best interests" standard. The team's primary responsibility is to the child, not the parents. Children should participate as abilities allow, especially for elective procedures. Increasingly, cost considerations also influence medical decisions. The craniofacial team is often a de factor gatekeeper. Ethically responsible team behavior includes: weighing risks and benefits of proposed interventions; promoting discussion with families and patients to identify "best interests;" monitoring outcomes; and advocacy for craniofacial patients individually and at a policy level. Care guidelines and definitions of basic levels of care should be developed to assist teams with decision-making and advocacy efforts. Ethical analysis is part of both good patient care and good policy formation, and should be a part of regular team deliberations. PMID:8547294

  4. Oral and Craniofacial Clinical Signs Associated to Genetic Conditions in Human Identification Part I: A Review

    PubMed Central

    Ayoub, Fouad; Aoun, Nicole; el Husseini, Hassan; Jassar, Houssam; Sayah, Fida; Salameh, Ziad

    2015-01-01

    Background: Forensic dentistry is one of the most reliable methods used in human identification when other technique as fingerprint, DNA, visual identification cannot be used. Genetic disorders have several manifestations that can target the intra-oral cavity, the cranio-facial area or any location in the human body. Materials and Methods: A literature search of the scientific database (Medline and Science Direct) for the years 1990 to 2014 was carried out to find out all the available papers that indicate oral, cranio-facial signs, genetic and human identification. Results: A table with 10 genetic conditions was described with oral and cranio-facial signs that can help forensic specialist in human identification. Conclusion: This review showed a correlation between genetics, facial and intra-oral signs that would help forensic ondontologist in the identification procedures. PMID:26028912

  5. Clinical application of three-dimensional printing technology in craniofacial plastic surgery.

    PubMed

    Choi, Jong Woo; Kim, Namkug

    2015-05-01

    Three-dimensional (3D) printing has been particularly widely adopted in medical fields. Application of the 3D printing technique has even been extended to bio-cell printing for 3D tissue/organ development, the creation of scaffolds for tissue engineering, and actual clinical application for various medical parts. Of various medical fields, craniofacial plastic surgery is one of areas that pioneered the use of the 3D printing concept. Rapid prototype technology was introduced in the 1990s to medicine via computer-aided design, computer-aided manufacturing. To investigate the current status of 3D printing technology and its clinical application, a systematic review of the literature was conducted. In addition, the benefits and possibilities of the clinical application of 3D printing in craniofacial surgery are reviewed, based on personal experiences with more than 500 craniofacial cases conducted using 3D printing tactile prototype models. PMID:26015880

  6. Scientific research in Latin America: experiences of collaborative projects on craniofacial anomalies.

    PubMed

    Trindade, Inge Elly Kiemle

    2006-11-01

    Scientists based in Latin America, particularly in Argentina, Brazil, Chile, and Mexico, substantially increased their rate of scientific publications during the past decades. Brazil experienced the most growth with the implementation of an efficient postgraduate system that is tripling the number of doctors every 10 years. Research on craniofacial anomalies is similarly increasing in Latin American countries. A PUBMED search using the key word "cleft" and a particular country's name showed that Brazil has published the most articles in that field during the past few years, many of which were published by research groups linked to the Hospital for Rehabilitation of Craniofacial Anomalies located in Bauru, which provides cleft and craniofacial care for more than 2500 new patients every year. Based on experiences with international collaboration, this report discusses obstacles to collaborative research and presents recommendations to enhance the possibility of creating successful partnerships among international research teams. PMID:17105326

  7. Craniofacial skeletal measurements based on computed tomography: Part I. Accuracy and reproducibility.

    PubMed

    Waitzman, A A; Posnick, J C; Armstrong, D C; Pron, G E

    1992-03-01

    Computed tomography (CT) is a useful modality for the management of craniofacial anomalies. A study was undertaken to assess whether CT measurements of the upper craniofacial skeleton accurately represent the bony region imaged. Measurements taken directly from five dry skulls (approximate ages: adults, over 18 years; child, 4 years; infant, 6 months) were compared to those from axial CT scans of these skulls. Excellent agreement was found between the direct (dry skull) and indirect (CT) measurements. The effect of head tilt on the accuracy of these measurements was investigated. The error was within clinically acceptable limits (less than 5 percent) if the angle was no more than +/- 4 degrees from baseline (0 degrees). Objective standardized information gained from CT should complement the subjective clinical data usually collected for the treatment of craniofacial deformities. PMID:1571344

  8. Phenotypic evolution of human craniofacial morphology after admixture: a geometric morphometrics approach.

    PubMed

    Martínez-Abadías, Neus; González-José, Rolando; González-Martín, Antonio; Van der Molen, Silvina; Talavera, Arturo; Hernández, Patricia; Hernández, Miquel

    2006-03-01

    An evolutionary, diachronic approach to the phenotypic craniofacial pattern arisen in a human population after high levels of admixture and gene flow was achieved by means of geometric morphometrics. Admixture has long been studied after molecular data. Nevertheless, few efforts have been made to explain the morphological outcome in human craniofacial samples. The Spanish-Amerindian contact can be considered a good scenario for such an analysis. Here we present a comparative analysis of craniofacial shape changes observed between two putative ancestor groups, Spanish and precontact Aztecs, and two diachronic admixed groups, corresponding to early and late colonial periods from the Mexico's Central Valley. Quantitative shape comparisons of Amerindian, Spanish, and admixed groups were used to test the expectations of quantitative genetics for admixture events. In its simplest form, this prediction states that an admixed group will present phenotypic values falling between those of both parental groups. Results show that, in general terms, although the human skull is a complex, integrated structure, the craniofacial morphology observed fits the theoretical expectations of quantitative genetics. Thus, it is predictive of population structure and history. In fact, results obtained after the craniofacial analysis are in accordance with previous molecular and historical interpretations, providing evidence that admixture is a main microevolutionary agent influencing modern Mexican gene pool. However, expectations are not straightforward when moderate shape changes are considered. Deviations detected at localized structures, such as the upper and lower face, highlight the evolution of a craniofacial pattern exclusively inherent to the admixed groups, indicating that quantitative characters might respond to admixture in a complicated, nondirectional way. PMID:16323202

  9. Does Lateral Parietal Cortex Support Episodic Memory? Evidence from Focal Lesion Patients

    PubMed Central

    Davidson, Patrick S. R.; Anaki, David; Ciaramelli, Elisa; Cohn, Melanie; Kim, Alice S. N.; Murphy, Kelly J.; Troyer, Angela K.; Moscovitch, Morris; Levine, Brian

    2009-01-01

    Although neuroimaging and human lesion studies agree that the medial parietal region plays a critical role in episodic memory, many neuroimaging studies have also implicated lateral parietal cortex, leading some researchers to suggest that the lateral region plays a heretofore underappreciated role in episodic memory. Because there are very few extant lesion data on this matter, we examined memory in six cases of focal lateral parietal damage, using both clinical and experimental measures, in which we distinguished between recollection and familiarity. The patients did not have amnesia, but they did show evidence of disrupted recollection on an anterograde memory task. Although the exact mechanisms remain to be elucidated, lateral parietal damage appears to impair some aspects of episodic memory. PMID:18313699

  10. Fusion and Fission of Cognitive Functions in the Human Parietal Cortex

    PubMed Central

    Humphreys, Gina F.; Lambon Ralph, Matthew A.

    2015-01-01

    How is higher cognitive function organized in the human parietal cortex? A century of neuropsychology and 30 years of functional neuroimaging has implicated the parietal lobe in many different verbal and nonverbal cognitive domains. There is little clarity, however, on how these functions are organized, that is, where do these functions coalesce (implying a shared, underpinning neurocomputation) and where do they divide (indicating different underlying neural functions). Until now, there has been no multi-domain synthesis in order to reveal where there is fusion or fission of functions in the parietal cortex. This aim was achieved through a large-scale activation likelihood estimation (ALE) analysis of 386 studies (3952 activation peaks) covering 8 cognitive domains. A tripartite, domain-general neuroanatomical division and 5 principles of cognitive organization were established, and these are discussed with respect to a unified theory of parietal functional organization. PMID:25205661

  11. Craniofacial Sutures: Morphology, Growth, and In Vivo Masticatory Strains

    PubMed Central

    RAFFERTY, KATHERINE L.; HERRING, SUSAN W.

    2010-01-01

    The growth and morphology of craniofacial sutures are thought to reflect their functional environment. However, little is known about in vivo sutural mechanics. The present study investigates the strains experienced by the internasal, nasofrontal, and anterior interfrontal sutures during masticatory activity in 4–6-month-old miniature swine (Sus scrofa). Measurements of the bony/fibrous arrangements and growth rates of these sutures were then examined in the context of their mechanical environment. Large tensile strains were measured in the interfrontal suture (1,036 με ± 400 SD), whereas the posterior internasal suture was under moderate compression (−440 με ± 238) and the nasofrontal suture experienced large compression (−1,583 με ± 506). Sutural interdigitation was associated with compressive strain. The collagen fibers of the internasal and interfrontal sutures were clearly arranged to resist compression and tension, respectively, whereas those of the nasofrontal suture could not be readily characterized as either compression or tension resisting. The average linear rate of growth over a 1-week period at the nasofrontal suture (133.8 μm, ± 50.9 S.D) was significantly greater than that of both the internasal and interfrontal sutures (39.2 μm ± 11.4 and 65.5 μm ± 14.0, respectively). Histological observations suggest that the nasofrontal suture contains chondroid tissue, which may explain the unexpected combination of high compressive loading and rapid growth in this suture. PMID:10521876

  12. Craniofacial injuries in professional cricket: no more a red herring.

    PubMed

    Tripathi, Manjul; Shukla, Dhaval P; Bhat, Dhananjaya Ishwar; Bhagavatula, Indira Devi; Mishra, Tejesh

    2016-04-01

    The issue of head injury in a noncontact sport like cricket is a matter of great debate and it carries more questions than answers. Recent incidents of fatal head injuries in individuals wearing a helmet have caused some to question the protective value of the helmet. The authors discuss the pattern, type of injury, incidents, and location of cranio-facio-ocular injuries in professional cricket to date. They evaluate the history of usage of the helmet in cricket, changes in design, and the protective value, and they compare the efficacy of various sports' helmets with injury profiles similar to those in cricket. The drop test and air cannon test are compared for impact energy attenuation performance of cricket helmets. A total of 36 cases of head injuries were identified, of which 5 (14%) were fatal and 9 (22%) were career-terminating events. Batsmen are the most vulnerable to injury, bearing 86% of the burden, followed by wicketkeepers (8%) and fielders (5.5%). In 53% of cases, the ball directly hit the head, while in 19.5% of cases the ball entered the gap between the peak and the faceguard. Ocular injuries to 3 wicketkeepers proved to be career-terminating injuries. The air cannon test is a better test for evaluating cricket helmets than the drop test. Craniofacial injuries are more common than popularly believed. There is an urgent need to improve the efficacy and compliance of protective restraints in cricket. A strict injury surveillance system with universal acceptance is needed to identify the burden of injuries and modes for their prevention. PMID:27032914

  13. Dental and craniofacial characteristics in a patient with Hutchinson-Gilford progeria syndrome.

    PubMed

    Reichert, Christoph; Gölz, Lina; Götz, Werner; Wolf, Michael; Deschner, James; Jäger, Andreas

    2014-07-01

    The Hutchinson-Gilford progeria syndrome (HGPS) is an exceptionally rare medical disorder caused by mutations in the lamin A/C gene. Affected patients display typical features of premature aging. Beside general medical disorders, these patients have several specific features related to the craniofacial phenotype and the oral cavity. In this article, the dental and craniofacial characteristics of a 9-year-old girl with HGPS are presented. It is the first report addressing orthodontic tooth movement and microbiological features in a HGPS patient. We describe and discuss pathologic findings and provide a detailed histology of the teeth which had to be extracted during initial treatment. PMID:25001855

  14. Disorders of Sex Development: Lessons to be Learned from Studies of Spina Bifida and Craniofacial Conditions.

    PubMed

    Holmbeck, G N; Aspinall, C L

    2015-05-01

    The purpose of this review is to discuss research methods and clinical management strategies employed with other conditions (i. e., spina bifida and craniofacial conditions) and how these methods and strategies could be applied to youth with disorders of sex development (DSD). The review focuses specifically on the potential overlap between DSD and these other conditions across the following 3 areas: (1) developmentally-oriented theories that underlie the research base for chronic physical conditions; (2) research designs and methodological features that have proved fruitful in these areas; and (3) the potential applicability to DSD of clinical management practices for youth with craniofacial conditions. PMID:25719736

  15. Heritability of Craniofacial Structures in Normal Subjects and Patients with Sleep Apnea

    PubMed Central

    Chi, Luqi; Comyn, Francois-Louis; Keenan, Brendan T.; Cater, Jacqueline; Maislin, Greg; Pack, Allan I.; Schwab, Richard J.

    2014-01-01

    Objectives: Accumulating evidence has shown that there is a genetic contribution to obstructive sleep apnea (OSA).The objectives were to use magnetic resonance imaging (MRI) cephalometry to (1) confirm heritability of craniofacial risk factors for OSA previously shown by cephalometrics; and (2) examine the heritability of new craniofacial structures that are measurable with MRI. Design: A sib pair “quad” design examining apneics, apneic siblings, controls, and control siblings. The study design used exact matching on ethnicity and sex, frequency matching on age, and statistical control for differences in age, sex, ethnicity, height, and weight. Setting: Academic medical center. Patients: We examined 55 apneic probands (apnea-hypopnea index [AHI]: 46.8 ± 33.5 events/h), 55 proband siblings (AHI: 11.1 ± 15.9 events/h), 55 controls (AHI: 2.2 ± 1.7 events/h), and 55 control siblings (AHI: 4.1 ± 4.0 events/h). Interventions: N/A. Measurements and Results: Five independent domains reflecting different aspects of the craniofacial structure were examined. We confirmed heritability of sella–nasion–subspinale (38%, P = 0.002), saddle angle (55%, P < 0.0001), mandibular length (24%, P = 0.02) and lower facial height (33%, P = 0.006) previously measured by cephalometry. In addition, the current study added new insights by demonstrating significant heritability of mandibular width (30%, P = 0.005), maxillary width (47%, P < 0.0001), distance from the hyoid bone to the retropogonion (36%, P = 0.0018) and size of the oropharyngeal space (31%, P = 0.004). Finally, our data indicate that heritability of the craniofacial structures is similar in normal patients and those with apnea. Conclusions: The data support our a priori hypothesis that the craniofacial structures that have been associated with obstructive sleep apnea (OSA) are heritable. We have demonstrated heritability for several intermediate craniofacial phenotypes for OSA. Thus, we believe that future studies

  16. Craniofacial norms in white adult males. Final report 1 Oct 80-30 Sep 83

    SciTech Connect

    Kapur, K.K.; Lestrel, P.

    1983-01-01

    The objective of this investigation was to establish clinical 'norms' of craniofacial skeletal orientation and the associated soft tissue facial profile for adult white males. Lateral and frontal cephalometric radiographs and study casts taken on 305 white males, with 28 or more teeth and 25-75 years of age, were used to develop these craniofacial standards. The goal of the research program has been to develop a computerized approach based upon dentofacial templates for the fabrication of complete dentures and to define clinical standards that can be applied in assessing the prosthodontic and orthodontic treatment needs of adult patients.

  17. [Sleep and dreams in patients with parietal and frontal lobe lesions].

    PubMed

    Cathala, H P; Laffont, F; Siksou, M; Esnault, S; Gilbert, A; Minz, M; Moret-Chalmin, C; Buzaré, M A; Waisbord, P

    1983-01-01

    Polygraphic recordings, psychological tests, and analyses of dreams during paradoxical sleep were conducted in 9 patients with parietal lobe, in 7 with frontal lobe lesions and in a control group. No significant differences in sleep organization were observed in the parietal group, but there was a considerable reduction in oneiric activity and alterations in results of some psychological tests. Several correlations based on statistical data are discussed. Oneiric activity was disorganized to a much lesser degree in patients with frontal lesions. PMID:6648201

  18. Abnormal Parietal Brain Function in ADHD: Replication and Extension of Previous EEG Beta Asymmetry Findings

    PubMed Central

    Hale, T. Sigi; Kane, Andrea M.; Tung, Kelly L.; Kaminsky, Olivia; McGough, James J.; Hanada, Grant; Loo, Sandra K.

    2014-01-01

    Background: Abundant work indicates ADHD abnormal posterior brain structure and function, including abnormal structural and functional asymmetries and reduced corpus callosum size. However, this literature has attracted considerably less research interest than fronto-striatal findings. Objective: To help address this imbalance, the current study replicates and extends our previous work showing abnormal parietal brain function in ADHD adults during the Conner’s Continuous Performance Test (CPT). Method: Our previous study found that ADHD adults had increased rightward EEG beta (16–21 Hz) asymmetry in inferior parietal brain regions during the CPT (p = 0.00001), and that this metric exhibited a lack of normal correlation (i.e., observed in controls) with beta asymmetry at temporal–parietal regions. We re-tested these effects in a new ADHD sample and with both new and old samples combined. We additionally examined: (a) EEG asymmetry in multiple frequency bands, (b) unilateral effects for all asymmetry findings, and (c) the association between EEG asymmetry and a battery of cognitive tests. Results: We replicated our original findings by demonstrating abnormal rightward inferior parietal beta asymmetry in adults with ADHD during the CPT, and again this metric exhibited abnormal reduced correlation to temporal–parietal beta asymmetry. Novel analyses also demonstrated a broader pattern of rightward beta and theta asymmetry across inferior, superior, and temporal–parietal brain regions, and showed that rightward parietal asymmetry in ADHD was atypically associated with multiple cognitive tests. Conclusion: Abnormal increased rightward parietal EEG beta asymmetry is an important feature of ADHD. We speculate that this phenotype may occur with any form of impaired capacity for top-down task-directed control over sensory encoding functions, and that it may reflect associated increase of attentional shifting and compensatory sustained/selective attention. PMID

  19. A genome-wide linkage scan for quantitative trait loci influencing the craniofacial complex in humans(Homo sapiens sapiens)

    PubMed Central

    Sherwood, Richard J.; Duren, Dana L.; Mahaney, Michael C.; Blangero, John; Dyer, Thomas D.; Cole, Shelley A.; Czerwinski, Stefan A.; Chumlea, Wm. Cameron; Siervogel, Roger M.; Choh, Audrey C.; Nahhas, Ramzi W.; Lee, Miryoung; Towne, Bradford

    2011-01-01

    The genetic architecture of the craniofacial complex has been the subject of intense scrutiny because of the high frequency of congenital malformations. Numerous animal models have been used to document the early development of the craniofacial complex, but few studies have focused directly on the genetic underpinnings of normal variation in the human craniofacial complex. The current study examines 80 quantitative traits derived from lateral cephalographs of 981 participants in the Fels Longitudinal Study, Wright State University, Dayton, Ohio. Quantitative genetic analyses were conducted using the SOLAR analytic platform, a maximum-likelihood variance components method that incorporates all familial information for parameter estimation. Heritability estimates were significant and of moderate to high magnitude for all craniofacial traits. Additionally, significant quantitative trait loci (QTL) were identified for 10 traits from the three developmental components (basicranium, splanchnocranium, and neurocranium) of the craniofacial complex. These QTL were found on chromosomes 3, 6, 11, 12, and 14. This study of the genetic architecture of the craniofacial complex elucidates fundamental information of the genetic architecture of the craniofacial complex in humans. PMID:21328561

  20. Effect of cleft lip palate repair on craniofacial growth

    PubMed Central

    Naqvi, Zuber Ahamed; Shivalinga, BM; Ravi, S; Munawwar, Syeda Sarah

    2015-01-01

    Objective: The aim of this cross-sectional study was to compare craniofacial growth among operated and unoperated unilateral cleft lip and palate non-syndromic subjects. Materials and Methods: A sample of 180 subjects of Indian origin was selected. Of them, 90 were operated, and 90 were unoperated complete unilateral cleft lip and palate individuals. The subjects were divided into three age groups of 3–5, 8–10, and 20–25 years comprised of 30 patients in each group. The following measurements were evaluated: Angle and length of the cranial base; maxillary spatial positioning and length; mandibular spatial positioning; morphology and length; maxillomandibular relationship. Comparative analysis of the means between the groups was performed with Student's t-test at the significance levels of 5%. The ANOVA test has been performed to test the effect of time. Results: No significant differences were observed between the measurements that represented the angle and length of the cranial base of unoperated and the operated patients (P>0.05). There was statistically significant decrease (P˂0.05) in the maxillary length (Co-A; 69.00 mm in 3–5 years, 68.33 mm in 8–10 years, and 67.17 mm in 20–25 years age group), and SNA angle (74.83° in 3–5 years, 74.17 ° in 8–10 years and 73.17 ° in 20–25 years age group) in operated group. No significant difference noticed on cephalometric values of the mandible, except Ar-Go-Me angle (P˂0.05), which showed vertical growth pattern in unoperated patients (132.50 ° in 3–5 years, 132.00 ° I 8–10 years and 138.33 ° in 20–25 years age group). Conclusion: Lip and palate repair has a significant influence on the maxilla and resulting in retarded growth of maxilla, which causes midface deficiency beyond acceptable sagittal limits. The Gonial angle showed vertical growth pattern in unoperated patients, but the cranial base angle and length of unoperated and the operated patients were similar. PMID:26229945

  1. The FaceBase Consortium: a comprehensive resource for craniofacial researchers

    PubMed Central

    Brinkley, James F.; Fisher, Shannon; Harris, Matthew P.; Holmes, Greg; Hooper, Joan E.; Wang Jabs, Ethylin; Jones, Kenneth L.; Kesselman, Carl; Klein, Ophir D.; Maas, Richard L.; Marazita, Mary L.; Selleri, Licia; Spritz, Richard A.; van Bakel, Harm; Visel, Axel; Williams, Trevor J.; Wysocka, Joanna

    2016-01-01

    The FaceBase Consortium, funded by the National Institute of Dental and Craniofacial Research, National Institutes of Health, is designed to accelerate understanding of craniofacial developmental biology by generating comprehensive data resources to empower the research community, exploring high-throughput technology, fostering new scientific collaborations among researchers and human/computer interactions, facilitating hypothesis-driven research and translating science into improved health care to benefit patients. The resources generated by the FaceBase projects include a number of dynamic imaging modalities, genome-wide association studies, software tools for analyzing human facial abnormalities, detailed phenotyping, anatomical and molecular atlases, global and specific gene expression patterns, and transcriptional profiling over the course of embryonic and postnatal development in animal models and humans. The integrated data visualization tools, faceted search infrastructure, and curation provided by the FaceBase Hub offer flexible and intuitive ways to interact with these multidisciplinary data. In parallel, the datasets also offer unique opportunities for new collaborations and training for researchers coming into the field of craniofacial studies. Here, we highlight the focus of each spoke project and the integration of datasets contributed by the spokes to facilitate craniofacial research. PMID:27287806

  2. Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype?

    PubMed

    Hing, Anne V; Click, Eleanor S; Holder, Ursula; Seto, Marianne L; Vessey, Kyle; Gruss, Joseph; Hopper, Richard; Cunningham, Michael L

    2009-05-01

    Multisutural craniosynostosis that includes bilateral lambdoid and sagittal synostosis (BLSS) results in a very characteristic head shape with frontal bossing, turribrachycephaly, biparietal narrowing, occipital concavity, and inferior displacement of the ears. This entity has been reported both in the genetics literature as craniofacial dyssynostosis and in the surgical literature as "Mercedes Benz" syndrome. Craniofacial dyssynostosis was first described in 1976 by Dr. Neuhauser when he presented a series of seven patients with synostosis of the sagittal and lambdoid sutures, short stature, and developmental delay. Over the past 30 years nine additional patients with craniofacial dyssynostosis have been reported in the literature adding to the growing evidence for a distinct craniosynostosis syndrome. The term "Mercedes Benz" syndrome was coined by Moore et al. in 1998 due to the characteristic appearance of the fused sutures on three-dimensional CT imaging. In contrast to the aforementioned reported cases of craniofacial dyssynostosis, all three patients had normal development. Recently, there have been several case reports of patients with BLSS and distinct chromosomal anomalies. These findings suggest that BLSS is a heterogeneous disorder perhaps with syndromic, chromosomal, and isolated forms. In this manuscript we will present the largest series of patients with BLSS and review clinical, CT, and molecular findings. PMID:19396832

  3. Sh3pxd2b Mice Are a Model for Craniofacial Dysmorphology and Otitis Media

    PubMed Central

    Yang, Bin; Tian, Cong; Zhang, Zhi-guang; Han, Feng-chan; Azem, Rami; Yu, Heping; Zheng, Ye; Jin, Ge; Arnold, James E.; Zheng, Qing Y.

    2011-01-01

    Craniofacial defects that occur through gene mutation during development increase vulnerability to eustachian tube dysfunction. These defects can lead to an increased incidence of otitis media. We examined the effects of a mutation in the Sh3pxd2b gene (Sh3pxd2bnee) on the progression of otitis media and hearing impairment at various developmental stages. We found that all mice that had the Sh3pxd2bnee mutation went on to develop craniofacial dysmorphologies and subsequently otitis media, by as early as 11 days of age. We found noteworthy changes in cilia and goblet cells of the middle ear mucosa in Sh3pxd2bnee mutant mice using scanning electronic microscopy. By measuring craniofacial dimensions, we determined for the first time in an animal model that this mouse has altered eustachian tube morphology consistent with a more horizontal position of the eustachian tube. All mutants were found to have hearing impairment. Expression of TNF-α and TLR2, which correlates with inflammation in otitis media, was up-regulated in the ears of mutant mice when examined by immunohistochemistry and semi-quantitative RT-PCR. The mouse model with a mutation in the Sh3pxd2b gene (Sh3pxd2bnee) mirrors craniofacial dysmorphology and otitis media in humans. PMID:21818352

  4. The influence of craniofacial to standing height proportion on perceived attractiveness.

    PubMed

    Naini, F B; Cobourne, M T; McDonald, F; Donaldson, A N A

    2008-10-01

    An idealised male image, based on Vitruvian Man, was created. The craniofacial height was altered from a proportion of 1/6 to 1/10 of standing height, creating 10 images shown in random order to 89 observers (74 lay people; 15 clinicians), who ranked the images from the most to the least attractive. The main outcome was the preference ranks of image attractiveness given by the observers. Linear regressions were used to assess what influences the choice for the most and the least attractive images, followed by a multivariate rank ordinal logistic regression to test the influence of age, gender, ethnicity and professional status of the observer. A craniofacial height to standing height proportion of 1/7.5 was perceived as the most attractive (36%), followed by a proportion of 1/8 (26%). The images chosen as most attractive by more than 10% of observers had a mean proportion of 1/7.8(min=1/7; max=1/8.5). The images perceived as most unattractive had a proportion of 1/6 and 1/10. The choice of images was not influenced by the age, gender, ethnicity or professional status of the observers. The ideal craniofacial height to standing height proportion is in the range 1/7 to 1/8.5. This finding should be considered when planning treatment to alter craniofacial or facial height. PMID:18778915

  5. Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation

    PubMed Central

    Dressler, Simone; Meyer-Marcotty, Philipp; Weisschuh, Nicole; Jablonski-Momeni, Anahita; Pieper, Klaus; Gramer, Gwendolyn; Gramer, Eugen

    2010-01-01

    Axenfeld-Rieger syndrome (ARS) (OMIM Nr.: 180500) is a rare autosomal dominant disorder (1  :  200000) with genetic and morphologic variability. Glaucoma is associated in 50% of the patients. Craniofacial and dental anomalies are frequently reported with ARS. The present study was designed as a multidisciplinary analysis of orthodontic, ophthalmologic, and genotypical features. A three-generation pedigree was ascertained through a family with ARS. Clinically, radiographic and genetic analyses were performed. Despite an identical genotype in all patients, the phenotype varies in expressivity of craniofacial and dental morphology. Screening for PITX2 and FOXC1 mutations by direct DNA-sequencing revealed a P64L missense mutation in PITX2 in all family members, supporting earlier reports that PITX2 is an essential factor in morphogenesis of teeth and craniofacial skeleton. Despite the fact that the family members had identical mutations, morphologic differences were evident. The concomitant occurrence of rare dental and craniofacial anomalies may be early diagnostic indications of ARS. Early detection of ARS and elevated intraocular pressure (IOP) helps to prevent visual field loss. PMID:20339518

  6. 78 FR 50426 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-08-19

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5...

  7. 76 FR 57748 - National Institute of Dental & Craniofacial Research Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-09-16

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5...

  8. 77 FR 29673 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-05-18

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5...

  9. 76 FR 79199 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-12-21

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5...

  10. 77 FR 50140 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-08-20

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5...

  11. 78 FR 65345 - National Institute of Dental & Craniofacial Research; Amended Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-10-31

    ... the Federal Register on August 19, 2013, 78 FR 50426. Meeting date has changed from October 17-18... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial...

  12. Reciprocal influence of masticatory apparatus, craniofacial structure and whole body homeostasis.

    PubMed

    Lee, Yong-Keun; Moon, Hyung-Joo

    2012-12-01

    There are evidences that the evolution into Homo erectus was partially induced by masticatory muscular dystrophy caused by a gene mutation, which in turn increased brain capacity and led to bipedalism. It is generally accepted that the morphology and function of mammalian skull are partially controlled by epigenetic mechanisms. Archeologic evidences support that the masticatory apparatus have influenced the mechanical stress distribution in hominin skull, and consequently changed craniofacial morphology and function. Even after evolution into H. erectus, alterations in food properties by civilization and cultural preferences have caused modification of human masticatory pattern and accordingly craniofacial structure. Since there are evidences that prehuman and human masticatory apparatus has been influenced the craniofacial and whole body morphology and function, this apparatus in turn might influence whole body homeostasis. Plausible reciprocal influencing mechanisms of the masticatory apparatus on the whole body homeostasis might be (1) direct mechanical influence on the craniofacial structure, (2) distortion of cerebrospinal fluid circulation, and/or (3) several neural/humoral routes. Based on these backgrounds, the hypothesis of the present study is that the morphology and function of masticatory apparatus influence the whole body homeostasis and these interactions are reciprocal. Therefore, human masticatory apparatus, at the present time, should be kept in its physiological status to maintain the whole body homeostasis. We recommend basic and clinical approaches to confirm this hypothesis. PMID:22981594

  13. Esthetic Craniofacial Bony and Skull Base Reconstruction Using Flap Wrapping Technique.

    PubMed

    Yano, Tomoyuki; Suesada, Nobuko; Usami, Satoshi

    2016-07-01

    For a safe and esthetic skull base reconstruction combined with repair of craniofacial bone defects, the authors introduce the flap wrapping technique in this study. This technique consists of skull base reconstruction using the vastus lateralis muscle of an anterolateral thigh (ALT) free flap, and structural craniofacial bony reconstruction using an autologous calvarial bone graft. The key to this technique is that all of the grafted autologous bone is wrapped with the vascularized fascia of the ALT free flap to protect the grafted bone from infection and exposure. Two anterior skull base tumors combined with craniofacial bony defects were included in this study. The subjects were a man and a woman, aged 18 and 64. Both patients had preoperative proton beam therapy. First, the skull base defect was filled with vastus lateralis muscle, and then structural reconstruction was performed with an autologous bone graft and a fabricated inner layer of calvarial bone, and then the grafted bone was completely wrapped in the vascularized fascia of the ALT free flap. By applying this technique, there was no intracranial infection or grafted bone exposure in these 2 patients postoperatively, even though both patients had preoperative proton beam therapy. Additionally, the vascularized fascia wrapped bone graft could provide a natural contour and prevent collapse of the craniofacial region, and this gives patients a better facial appearance even though they have had skull base surgery. PMID:27300454

  14. The FaceBase Consortium: a comprehensive resource for craniofacial researchers.

    PubMed

    Brinkley, James F; Fisher, Shannon; Harris, Matthew P; Holmes, Greg; Hooper, Joan E; Jabs, Ethylin Wang; Jones, Kenneth L; Kesselman, Carl; Klein, Ophir D; Maas, Richard L; Marazita, Mary L; Selleri, Licia; Spritz, Richard A; van Bakel, Harm; Visel, Axel; Williams, Trevor J; Wysocka, Joanna; Chai, Yang

    2016-07-15

    The FaceBase Consortium, funded by the National Institute of Dental and Craniofacial Research, National Institutes of Health, is designed to accelerate understanding of craniofacial developmental biology by generating comprehensive data resources to empower the research community, exploring high-throughput technology, fostering new scientific collaborations among researchers and human/computer interactions, facilitating hypothesis-driven research and translating science into improved health care to benefit patients. The resources generated by the FaceBase projects include a number of dynamic imaging modalities, genome-wide association studies, software tools for analyzing human facial abnormalities, detailed phenotyping, anatomical and molecular atlases, global and specific gene expression patterns, and transcriptional profiling over the course of embryonic and postnatal development in animal models and humans. The integrated data visualization tools, faceted search infrastructure, and curation provided by the FaceBase Hub offer flexible and intuitive ways to interact with these multidisciplinary data. In parallel, the datasets also offer unique opportunities for new collaborations and training for researchers coming into the field of craniofacial studies. Here, we highlight the focus of each spoke project and the integration of datasets contributed by the spokes to facilitate craniofacial research. PMID:27287806

  15. G-Protein α-Subunit Gsα Is Required for Craniofacial Morphogenesis

    PubMed Central

    Wei, Yanxia; Chen, Min; Weinstein, Lee S.; Hong, Yang; Zhu, Minyan; Li, Hongchang; Li, Huashun

    2016-01-01

    The heterotrimeric G protein subunit Gsα couples receptors to activate adenylyl cyclase and is required for the intracellular cAMP response and protein kinase A (PKA) activation. Gsα is ubiquitously expressed in many cell types; however, the role of Gsα in neural crest cells (NCCs) remains unclear. Here we report that NCCs-specific Gsα knockout mice die within hours after birth and exhibit dramatic craniofacial malformations, including hypoplastic maxilla and mandible, cleft palate and craniofacial skeleton defects. Histological and anatomical analysis reveal that the cleft palate in Gsα knockout mice is a secondary defect resulting from craniofacial skeleton deficiencies. In Gsα knockout mice, the morphologies of NCCs-derived cranial nerves are normal, but the development of dorsal root and sympathetic ganglia are impaired. Furthermore, loss of Gsα in NCCs does not affect cranial NCCs migration or cell proliferation, but significantly accelerate osteochondrogenic differentiation. Taken together, our study suggests that Gsα is required for neural crest cells-derived craniofacial development. PMID:26859889

  16. Sh3pxd2b mice are a model for craniofacial dysmorphology and otitis media.

    PubMed

    Yang, Bin; Tian, Cong; Zhang, Zhi-guang; Han, Feng-chan; Azem, Rami; Yu, Heping; Zheng, Ye; Jin, Ge; Arnold, James E; Zheng, Qing Y

    2011-01-01

    Craniofacial defects that occur through gene mutation during development increase vulnerability to eustachian tube dysfunction. These defects can lead to an increased incidence of otitis media. We examined the effects of a mutation in the Sh3pxd2b gene (Sh3pxd2b(nee)) on the progression of otitis media and hearing impairment at various developmental stages. We found that all mice that had the Sh3pxd2b(nee) mutation went on to develop craniofacial dysmorphologies and subsequently otitis media, by as early as 11 days of age. We found noteworthy changes in cilia and goblet cells of the middle ear mucosa in Sh3pxd2b(nee) mutant mice using scanning electronic microscopy. By measuring craniofacial dimensions, we determined for the first time in an animal model that this mouse has altered eustachian tube morphology consistent with a more horizontal position of the eustachian tube. All mutants were found to have hearing impairment. Expression of TNF-α and TLR2, which correlates with inflammation in otitis media, was up-regulated in the ears of mutant mice when examined by immunohistochemistry and semi-quantitative RT-PCR. The mouse model with a mutation in the Sh3pxd2b gene (Sh3pxd2b(nee)) mirrors craniofacial dysmorphology and otitis media in humans. PMID:21818352

  17. Applications of Mesenchymal Stem Cells and Neural Crest Cells in Craniofacial Skeletal Research

    PubMed Central

    Ouchi, Takehito; Shibata, Shinsuke; Fujimura, Takumi; Kawana, Hiromasa; Okano, Hideyuki; Nakagawa, Taneaki

    2016-01-01

    Craniofacial skeletal tissues are composed of tooth and bone, together with nerves and blood vessels. This composite material is mainly derived from neural crest cells (NCCs). The neural crest is transient embryonic tissue present during neural tube formation whose cells have high potential for migration and differentiation. Thus, NCCs are promising candidates for craniofacial tissue regeneration; however, the clinical application of NCCs is hindered by their limited accessibility. In contrast, mesenchymal stem cells (MSCs) are easily accessible in adults, have similar potential for self-renewal, and can differentiate into skeletal tissues, including bones and cartilage. Therefore, MSCs may represent good sources of stem cells for clinical use. MSCs are classically identified under adherent culture conditions, leading to contamination with other cell lineages. Previous studies have identified mouse- and human-specific MSC subsets using cell surface markers. Additionally, some studies have shown that a subset of MSCs is closely related to neural crest derivatives and endothelial cells. These MSCs may be promising candidates for regeneration of craniofacial tissues from the perspective of developmental fate. Here, we review the fundamental biology of MSCs in craniofacial research. PMID:27006661

  18. 45,X/46,XX karyotype mitigates the aberrant craniofacial morphology in Turner syndrome.

    PubMed

    Rizell, Sara; Barrenäs, Marie-Louise; Andlin-Sobocki, Anna; Stecksén-Blicks, Christina; Kjellberg, Heidrun

    2013-08-01

    The aim of this project was to study the impact on craniofacial morphology from Turner syndrome (TS) karyotype, number of intact X chromosomal p-arms, and age as well as to compare craniofacial morphology in TS with healthy females. Lateral radiographs from 108 females with TS, ranging from 5.4 to 61.6 years, were analysed. The TS females were divided into four karyotype groups: 1. monosomy (45,X), 2. mosaic (45,X/46,XX), 3. isochromosome, and 4. other, as well as according to the number of intact X chromosomal p-arms. The karyotype was found to have an impact on craniofacial growth, where the mosaic group, with presence of 46,XX cell lines, seems to exhibit less mandibular retrognathism as well as fewer statistically significant differences compared to the reference group than the 45,X karyotype. Isochromosomes had more significant differences versus the reference group than 45,X/46,XX but fewer than 45,X. To our knowledge, this is the first time the 45,X/46,XX and isochromosome karyotypes are divided into separate groups studying craniofacial morphology. Impact from p-arm was found on both maxillary and mandibular length. Compared to healthy females, TS expressed a shorter posterior and flattened cranial base, retrognathic, short and posteriorly rotated maxilla and mandible, increased height of ramus, and relatively shorter posterior facial height. The impact of age was found mainly on mandibular morphology since mandibular retrognathism and length were more discrepant in older TS females than younger. PMID:22531663

  19. 77 FR 11563 - National Institute of Dental and Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-02-27

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental and Craniofacial Research; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is hereby given of...

  20. 75 FR 28028 - National Institute of Dental and Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-05-19

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental and Craniofacial Research; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is hereby given of...

  1. 76 FR 58284 - National Institute of Dental and Craniofacial Research; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-09-20

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental and Craniofacial Research; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is hereby given of...

  2. 77 FR 35988 - National Institute of Dental and Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-06-15

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental and Craniofacial Research; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is hereby given of...

  3. 75 FR 82036 - National Institute of Dental and Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-12-29

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental and Craniofacial Research; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is hereby given of...

  4. 76 FR 78013 - National Institute of Dental and Craniofacial Research; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-12-15

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental and Craniofacial Research; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is hereby given of...

  5. 75 FR 67381 - National Institute of Dental and Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-11-02

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental and Craniofacial Research; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is hereby given of...

  6. Craniofacial skeletal measurements based on computed tomography: Part II. Normal values and growth trends.

    PubMed

    Waitzman, A A; Posnick, J C; Armstrong, D C; Pron, G E

    1992-03-01

    Current diagnosis and surgical correction of craniofacial anomalies would benefit from accurate quantitative and standardized points of reference. A retrospective study was undertaken to define normal values for a series of craniofacial measurements and to evaluate the growth patterns of the craniofacial complex through axial computed tomography (CT). Fifteen measurements were taken from 542 CT scan series of skeletally normal subjects. The measurement values were then divided into 1-year age categories from 1 to 17 years, and into four age groups for those under 1 year of age. The normal range and growth pattern of measurement values for the cranial vault, orbital region, and upper midface are presented. The overall size of the cranio-orbito-zygomatic skeleton reaches more than 85 percent of adult size by age 5 years. The cranial vault grows rapidly in the first year of life but growth levels off early. The upper midface grows at a slower rate in infancy, but continues to grow later in childhood and early adolescence. Knowledge of the differential growth patterns and normal measurement values in the craniofacial region will help improve diagnostic accuracy, staging of reconstruction, precision of corrective surgery, and follow-up of patients. PMID:1571345

  7. 75 FR 1063 - National Institute of Dental & Craniofacial Research; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-01-08

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Dental & Craniofacial Research; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is hereby given of...

  8. Transnasal illumination to guide the craniofacial resection of anterior skull base neoplasms.

    PubMed

    Cohen, A R; Tartell, P B

    1993-11-01

    The authors describe use of a flexible fiberoptic light source to guide the craniofacial resection of anterior skull base neoplasms. The light is introduced transnasally and serves to outline the perimeter of the tumor, helping to direct the safe placement of intracranial osteotomies and en bloc tumor removal. PMID:8211661

  9. In vivo bone strain and finite-element modeling of the craniofacial haft in catarrhine primates

    PubMed Central

    Ross, Callum F; Berthaume, Michael A; Dechow, Paul C; Iriarte-Diaz, Jose; Porro, Laura B; Richmond, Brian G; Spencer, Mark; Strait, David

    2011-01-01

    Hypotheses regarding patterns of stress, strain and deformation in the craniofacial skeleton are central to adaptive explanations for the evolution of primate craniofacial form. The complexity of craniofacial skeletal morphology makes it difficult to evaluate these hypotheses with in vivo bone strain data. In this paper, new in vivo bone strain data from the intraorbital surfaces of the supraorbital torus, postorbital bar and postorbital septum, the anterior surface of the postorbital bar, and the anterior root of the zygoma are combined with published data from the supraorbital region and zygomatic arch to evaluate the validity of a finite-element model (FEM) of a macaque cranium during mastication. The behavior of this model is then used to test hypotheses regarding the overall deformation regime in the craniofacial haft of macaques. This FEM constitutes a hypothesis regarding deformation of the facial skeleton during mastication. A simplified verbal description of the deformation regime in the macaque FEM is as follows. Inferior bending and twisting of the zygomatic arches about a rostrocaudal axis exerts inferolaterally directed tensile forces on the lateral orbital wall, bending the wall and the supraorbital torus in frontal planes and bending and shearing the infraorbital region and anterior zygoma root in frontal planes. Similar deformation regimes also characterize the crania of Homo and Gorilla under in vitro loading conditions and may be shared among extant catarrhines. Relatively high strain magnitudes in the anterior root of the zygoma suggest that the morphology of this region may be important for resisting forces generated during feeding. PMID:21105871

  10. Ventral fronto-parietal contributions to the disruption of visual working memory storage.

    PubMed

    Hakun, Jonathan G; Ravizza, Susan M

    2016-01-01

    The ability to maintain information in visual working memory (VWM) in the presence of ongoing visual input allows for flexible goal-directed behavior. Previous evidence suggests that categorical overlap between visual distractors and the contents of VWM is associated with both the degree to which distractors disrupt VWM performance and activation among fronto-parietal regions of cortex. While within-category distractors have been shown to elicit a greater response in ventral fronto-parietal regions, to date, no study has linked distractor-evoked response of these regions to VWM performance costs. Here we examined the contributions of ventral fronto-parietal cortex to the disruption of VWM storage by manipulating memoranda-distractor similarity. Our results revealed that the degree of activation across cortex was graded in a manner suggesting that similarity between the contents of VWM and visual distractors influenced distractor processing. While abrupt visual onsets failed to engage ventral fronto-parietal regions during VWM maintenance, objects sharing categorical- (Related objects) and feature-overlap (Matched objects) with VWM elicited a significant response in the right TPJ and right AI. Of central relevance, the magnitude of activation in the right AI elicited by both types of distractor objects subsequently predicted costs to binding change detection accuracy. In addition, Related and Matched distractors differentially affected ventral-dorsal connectivity between the right AI and dorsal parietal regions, uniquely contributing to disruption of VWM storage. Together, our current results implicate activation of ventral fronto-parietal cortex in disruption of VWM storage, and disconnection between ventral frontal and dorsal parietal cortices as a mechanism to protect the contents of VWM. PMID:26436710

  11. Prestimulus frontal-parietal coherence predicts auditory detection performance in rats

    PubMed Central

    Herzog, Linnea; Salehi, Kia; Bohon, Kaitlin S.

    2014-01-01

    Electrophysiology in primates has implicated long-range neural coherence as a potential mechanism for enhancing sensory detection. To test whether local synchronization and long-range neural coherence support detection performance in rats, we recorded local field potentials (LFPs) in frontal and parietal cortex while rats performed an auditory detection task. We observed significantly elevated power at multiple low frequencies (<15 Hz) preceding the target beep when the animal failed to respond to the signal (misses), in both frontal and parietal cortex. In terms of long-range coherence, we observed significantly more frontal-parietal coherence in the beta band (15–30 Hz) before the signal on misses compared with hits. This effect persisted after regressing away linear trends in the coherence values during a session, showing that the excess frontal-parietal beta coherence prior to misses cannot be explained by slow motivational changes during a session. In addition, a trend toward higher low-frequency (<15 Hz) coherence prior to miss trials compared with hits became highly significant when we rereferenced the LFPs to the mean voltage on each recording array, suggesting that the results are specific to our frontal and parietal areas. These results do not support a role for long-range frontal-parietal coherence or local synchronization in facilitating the detection of external stimuli. Rather, they extend to long-range frontal-parietal coherence previous findings that correlate local synchronization of low-frequency (<15 Hz) oscillations with inattention to external stimuli and synchronization of beta rhythms (15–30 Hz) with voluntary or involuntary prolongation of the current cognitive or motor state. PMID:24572093

  12. Reward-based decision signals in parietal cortex are partially embodied.

    PubMed

    Kubanek, Jan; Snyder, Lawrence H

    2015-03-25

    Recordings in the lateral intraparietal area (LIP) reveal that parietal cortex encodes variables related to spatial decision-making, the selection of desirable targets in space. It has been unclear whether parietal cortex is involved in spatial decision-making in general, or whether specific parietal compartments subserve decisions made using specific actions. To test this, we engaged monkeys (Macaca mulatta) in a reward-based decision task in which they selected a target based on its desirability. The animals' choice behavior in this task followed the molar matching law, and in each trial was governed by the desirability of the choice targets. Critically, animals were instructed to make the choice using one of two actions: eye movements (saccades) and arm movements (reaches). We recorded the discharge activity of neurons in area LIP and the parietal reach region (PRR) of the parietal cortex. In line with previous studies, we found that both LIP and PRR encode a reward-based decision variable, the target desirability. Crucially, the target desirability was encoded in LIP at least twice as strongly when choices were made using saccades compared with reaches. In contrast, PRR encoded target desirability only for reaches and not for saccades. These data suggest that decisions can evolve in dedicated parietal circuits in the context of specific actions. This finding supports the hypothesis of an intentional representation of developing decisions in parietal cortex. Furthermore, the close link between the cognitive (decision-related) and bodily (action-related) processes presents a neural contribution to the theories of embodied cognition. PMID:25810518

  13. The effect of dam strain on the craniofacial morphogenesis of CL/Fr mouse fetuses.

    PubMed

    Martin, D A; Nonaka, K; Yanagita, K; Nakata, M

    1995-01-01

    The embryo transfer technique and cephalometry were used to investigate the effect of dam strain in intrauterine craniofacial growth and the severity of cleft lip and palate (CLP) in a CLP-susceptible CL/Fr strain of embryos. The CL/Fr strain of embryos at early blastocyst stage was transferred to the same dam strain and to the CLP-resistant C57BL dam strain. On the 18th gestational day, each dam was laparotomized to take out the fetuses. The spontaneous incidence of CLP in the fetuses was checked and a cephalometric observation of the craniofacial complex of each fetus was done just after laparotomy. The dorsoventral craniofacial size of the unaffected fetuses and the severity of CLP i the affected ones were compared between both dam strains. The following results were obtained: 1) The overall craniofacial sizes of the unaffected fetuses observed in the CL/Fr dam strain were significantly smaller than those seen in the C57/BL dam strain. Those of the affected fetuses observed in the CL/Fr dam strain were smaller than those seen in the C57BL dam strain although the interstrain difference was not significant. 20 The dam strain had a highly significant effect on the craniofacial size of the unaffected fetuses. 3) The CLP frequency in the CL/Fr dam strain was significantly higher than that in the C57BL dam strain. 4) The severity of CLP in the affected fetuses observed in the CL/Fr dam strain was significantly more serious than that seen in the C57BL dam strain. These results indicated that the CLP-susceptible CL/Fr dam strain retarded the intrauterine craniofacial growth of the fetuses and that the cleft condition in the affected fetuses observed in the CL/Fr dam strain was more seriously affected than that seen in the CLP-resistant C57BL dam strain. Thus, it can be concluded that the effect of the dam strain played an important role in the craniofacial morphogenesis of the CL/Fr strain of mouse fetuses that developed from the embryo transferred to the CL/Fr and C57

  14. American Association of Orthodontists Foundation Craniofacial Growth Legacy Collection: Overview of a powerful tool for orthodontic research and teaching.

    PubMed

    Baumrind, Sheldon; Curry, Sean

    2015-08-01

    This article reports on the current status of the American Association of Orthodontists Foundation (AAOF) Craniofacial Growth Legacy Collection--an AAOF-supported multi-institutional project that uses the Internet and cloud computing to collect and share craniofacial images and data for orthodontic research and education. The project gives investigators and clinicians all over the world online access to longitudinal information on craniofacial development in untreated children with malocclusions of various types. It also is a unique source of control samples for testing the validity of consensually accepted beliefs about the effects of orthodontic treatment or of failure to treat. PMID:26232829

  15. Nested Levels of Adaptive Divergence: The Genetic Basis of Craniofacial Divergence and Ecological Sexual Dimorphism

    PubMed Central

    Parsons, Kevin J.; Wang, Jason; Anderson, Graeme; Albertson, R. Craig

    2015-01-01

    Exemplary systems for adaptive divergence are often characterized by their large degrees of phenotypic variation. This variation represents the outcome of generations of diversifying selection. However, adaptive radiations can also contain a hierarchy of differentiation nested within them where species display only subtle phenotypic differences that still have substantial effects on ecology, function, and ultimately fitness. Sexual dimorphisms are also common in species displaying adaptive divergence and can be the result of differential selection between sexes that produce ecological differences between sexes. Understanding the genetic basis of subtle variation (between certain species or sexes) is therefore important for understanding the process of adaptive divergence. Using cichlids from the dramatic adaptive radiation of Lake Malawi, we focus on understanding the genetic basis of two aspects of relatively subtle phenotypic variation. This included a morphometric comparison of the patterns of craniofacial divergence between two ecologically similar species in relation to the larger adaptive radiation of Malawi, and male–female morphological divergence between their F2 hybrids. We then genetically map craniofacial traits within the context of sex and locate several regions of the genome that contribute to variation in craniofacial shape that is relevant to sexual dimorphism within species and subtle divergence between closely related species, and possibly to craniofacial divergence in the Malawi radiation as a whole. To enhance our search for candidate genes we take advantage of population genomic data and a genetic map that is anchored to the cichlid genome to determine which genes within our QTL regions are associated with SNPs that are alternatively fixed between species. This study provides a holistic understanding of the genetic underpinnings of adaptive divergence in craniofacial shape. PMID:26038365

  16. Ellis Van Creveld2 is Required for Postnatal Craniofacial Bone Development.

    PubMed

    Badri, Mohammed K; Zhang, Honghao; Ohyama, Yoshio; Venkitapathi, Sundharamani; Kamiya, Nobuhiro; Takeda, Haruko; Ray, Manas; Scott, Greg; Tsuji, Takehito; Kunieda, Tetsuo; Mishina, Yuji; Mochida, Yoshiyuki

    2016-08-01

    Ellis-van Creveld (EvC) syndrome is a genetic disorder with mutations in either EVC or EVC2 gene. Previous case studies reported that EvC patients underwent orthodontic treatment, suggesting the presence of craniofacial bone phenotypes. To investigate whether a mutation in EVC2 gene causes a craniofacial bone phenotype, Evc2 knockout (KO) mice were generated and cephalometric analysis was performed. The heads of wild type (WT), heterozygous (Het) and homozygous Evc2 KO mice (1-, 3-, and 6-week-old) were prepared and cephalometric analysis based on the selected reference points on lateral X-ray radiographs was performed. The linear and angular bone measurements were then calculated, compared between WT, Het and KO and statistically analyzed at each time point. Our data showed that length of craniofacial bones in KO was significantly lowered by ∼20% to that of WT and Het, the growth of certain bones, including nasal bone, palatal length, and premaxilla was more affected in KO, and the reduction in these bone length was more significantly enhanced at later postnatal time points (3 and 6 weeks) than early time point (1 week). Furthermore, bone-to-bone relationship to cranial base and cranial vault in KO was remarkably changed, i.e. cranial vault and nasal bone were depressed and premaxilla and mandible were developed in a more ventral direction. Our study was the first to show the cause-effect relationship between Evc2 deficiency and craniofacial defects in EvC syndrome, demonstrating that Evc2 is required for craniofacial bone development and its deficiency leads to specific facial bone growth defect. Anat Rec, 299:1110-1120, 2016. © 2016 Wiley Periodicals, Inc. PMID:27090777

  17. Fuz Regulates Craniofacial Development through Tissue Specific Responses to Signaling Factors

    PubMed Central

    Zhang, Zichao; Wlodarczyk, Bogdan J.; Niederreither, Karen; Venugopalan, Shankar; Florez, Sergio; Finnell, Richard H.; Amendt, Brad A.

    2011-01-01

    The planar cell polarity effector gene Fuz regulates ciliogenesis and Fuz loss of function studies reveal an array of embryonic phenotypes. However, cilia defects can affect many signaling pathways and, in humans, cilia defects underlie several craniofacial anomalies. To address this, we analyzed the craniofacial phenotype and signaling responses of the Fuz−/− mice. We demonstrate a unique role for Fuz in regulating both Hedgehog (Hh) and Wnt/β-catenin signaling during craniofacial development. Fuz expression first appears in the dorsal tissues and later in ventral tissues and craniofacial regions during embryonic development coincident with cilia development. The Fuz−/− mice exhibit severe craniofacial deformities including anophthalmia, agenesis of the tongue and incisors, a hypoplastic mandible, cleft palate, ossification/skeletal defects and hyperplastic malformed Meckel's cartilage. Hh signaling is down-regulated in the Fuz null mice, while canonical Wnt signaling is up-regulated revealing the antagonistic relationship of these two pathways. Meckel's cartilage is expanded in the Fuz−/− mice due to increased cell proliferation associated with the up-regulation of Wnt canonical target genes and decreased non-canonical pathway genes. Interestingly, cilia development was decreased in the mandible mesenchyme of Fuz null mice, suggesting that cilia may antagonize Wnt signaling in this tissue. Furthermore, expression of Fuz decreased expression of Wnt pathway genes as well as a Wnt-dependent reporter. Finally, chromatin IP experiments demonstrate that β-catenin/TCF-binding directly regulates Fuz expression. These data demonstrate a new model for coordination of Hh and Wnt signaling and reveal a Fuz-dependent negative feedback loop controlling Wnt/β-catenin signaling. PMID:21935430

  18. Craniofacial anomalies associated with hypospadias. Description of a hospital based population in South America

    PubMed Central

    Fernandez, Nicolas; Escobar, Rebeca; Zarante, Ignacio

    2016-01-01

    ABSTRACT Introduction: Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing an increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenital anomalies. Materials and Methods: A retrospective review of the Latin-American collaborative study of congenital malformations (ECLAMC) data was performed between January 1982 and December 2011. We included children diagnosed with associated hypospadias and among them we selected those that were associated with any craniofacial congenital anomaly. Results: Global prevalence was 11.3 per 10.000 newborns. In this population a total of 809 patients with 1117 associated anomalies were identified. On average there were 1.7 anomalies per patient. Facial anomalies were present in 13.2%. The most commonly major facial anomaly associated to hypospadias was cleft lip/palate with 52 cases. We identified that 18% have an association with other anomalies, and found an association between craniofacial anomalies and hypospadias in 0.59 cases/10.000 newborns. Discussion: Hypospadias is the most common congenital anomaly affecting the genitals. Its association with other anomalies is rare. It has been reported that other malformations occur in 29.3% of the cases with hypospadias. The more proximal the meatus, the higher the risk for having another associated anomaly. Conclusion: Associated hypospadias are rare, and it is important to identify the concurrent occurrence of craniofacial anomalies to better treat patients that might need a multidisciplinary approach. PMID:27564292

  19. Screening for obstructive sleep apnea in children treated at a major craniofacial center.

    PubMed

    Paliga, J Thomas; Tahiri, Youssef; Silvestre, Jason; Taylor, Jesse A

    2014-09-01

    Timely diagnosis of obstructive sleep apnea (OSA) in patients with craniofacial disorders may help prevent long-term adverse sequelae of upper airway obstruction, namely pulmonary hypertension, failure to thrive, and impaired neurocognitive development. Currently, little is known about the incidence of OSA in this high-risk population. A prospective study examining the incidence of positive screening for OSA in patients cared for by the craniofacial team at a large, urban referral center was performed. From January 2011 to August 2013, all patient families were asked to complete the Pediatric Sleep Questionnaire. This validated tool has a sensitivity of 85% and specificity of 87% in predicting a positive sleep study when the ratio of positive-total responses is 0.33 or greater. Screening results were evaluated via Chi-squared and Fisher tests according to demographic and clinical variables. A total of 234 children seen in our craniofacial clinic completed the Pediatric Sleep Questionnaire. The mean screening age was 8.38 years, and 47% were male (110/234). Total incidence of positive OSA screening was 28.2% (66/234). Of the total population, 128 patients had an underlying syndrome (54.7%), whereas 106 patients were nonsyndromic (45.3%). Both groups were at equivalent risk for screening positive for OSA (28.1% versus 28.3%, P = 1.0). Among children with a craniofacial diagnosis, patients with a cleft lip and/or palate were at equivalent risk for screening positive for OSA as patients without a cleft (25.5% versus 32.6%, P = 0.24). The OSA symptoms affect almost one third of patients seen by our craniofacial team. Syndromic and nonsyndromic patients seem to be at equivalent risk as those patients with and without an oropharyngeal cleft. Future work will correlate these findings with formal polysomnography and may serve to heighten awareness of OSA in this at-risk population. PMID:25162551

  20. Cranio-facial remodeling in domestic dogs is associated with changes in larynx position.

    PubMed

    Plotsky, Kyle; Rendall, Drew; Chase, Kevin; Riede, Tobias

    2016-06-01

    The hyo-laryngeal complex is a multi-segmented structure integrating the oral and pharyngeal cavities and thus a variety of critical functions related to airway control, feeding, and vocal communication. Currently, we lack a complete understanding of how the hyoid complex, and the functions it mediates, can also be affected by changes in surrounding cranio-facial dimensions. Here, we explore these relationships in a breed of domestic dog, the Portuguese Water Dog, which is characterized by strong cranio-facial variation. We used radiographic images of the upper body and head of 55 adult males and 51 adult females to obtain detailed measures of cranio-facial variation and hyoid anatomy. Principal components analysis revealed multiple orthogonal dimensions of cranio-facial variation, some of which were associated with significant differences in larynx position: the larynx occupied a more descended position in individuals with shorter, broader faces than in those with longer, narrower faces. We then tested the possibility that caudal displacement of the larynx in brachycephalic individuals might reflect a degree of tongue crowding resulting from facial shortening and reduction of oral and pharyngeal spaces. A cadaver sample was used to obtain detailed measurements of constituent bones of the hyoid skeleton and of the tongue body, and their relationships to cranio-facial size and shape and overall body size supported the tongue-crowding hypothesis. Considering the presence of descended larynges in numerous mammalian taxa, our findings establish an important precedent for the possibility that laryngeal descent can be initiated, and even sustained, in part in response to remodeling of the face and cranium for selective pressures unrelated to vocal production. These integrated changes could also have been involved in hominin evolution, where the different laryngeal positions in modern humans compared with nonhuman primates have been traditionally linked to the evolution

  1. A regional method for craniofacial reconstruction based on coordinate adjustments and a new fusion strategy.

    PubMed

    Deng, Qingqiong; Zhou, Mingquan; Wu, Zhongke; Shui, Wuyang; Ji, Yuan; Wang, Xingce; Liu, Ching Yiu Jessica; Huang, Youliang; Jiang, Haiyan

    2016-02-01

    Craniofacial reconstruction recreates a facial outlook from the cranium based on the relationship between the face and the skull to assist identification. But craniofacial structures are very complex, and this relationship is not the same in different craniofacial regions. Several regional methods have recently been proposed, these methods segmented the face and skull into regions, and the relationship of each region is then learned independently, after that, facial regions for a given skull are estimated and finally glued together to generate a face. Most of these regional methods use vertex coordinates to represent the regions, and they define a uniform coordinate system for all of the regions. Consequently, the inconsistence in the positions of regions between different individuals is not eliminated before learning the relationships between the face and skull regions, and this reduces the accuracy of the craniofacial reconstruction. In order to solve this problem, an improved regional method is proposed in this paper involving two types of coordinate adjustments. One is the global coordinate adjustment performed on the skulls and faces with the purpose to eliminate the inconsistence of position and pose of the heads; the other is the local coordinate adjustment performed on the skull and face regions with the purpose to eliminate the inconsistence of position of these regions. After these two coordinate adjustments, partial least squares regression (PLSR) is used to estimate the relationship between the face region and the skull region. In order to obtain a more accurate reconstruction, a new fusion strategy is also proposed in the paper to maintain the reconstructed feature regions when gluing the facial regions together. This is based on the observation that the feature regions usually have less reconstruction errors compared to rest of the face. The results demonstrate that the coordinate adjustments and the new fusion strategy can significantly improve the

  2. Genetics of murine craniofacial morphology: diallel analysis of the eight founders of the Collaborative Cross.

    PubMed

    Percival, Christopher J; Liberton, Denise K; Pardo-Manuel de Villena, Fernando; Spritz, Richard; Marcucio, Ralph; Hallgrímsson, Benedikt

    2016-01-01

    Using eight inbred founder strains of the mouse Collaborative Cross (CC) project and their reciprocal F1 hybrids, we quantified variation in craniofacial morphology across mouse strains, explored genetic contributions to craniofacial variation that distinguish the founder strains, and tested whether specific or summary measures of craniofacial shape display stronger additive genetic contributions. This study thus provides critical information about phenotypic diversity among CC founder strains and about the genetic contributions to this phenotypic diversity, which is relevant to understanding the basis of variation in standard laboratory strains and natural populations. Craniofacial shape was quantified as a series of size-adjusted linear dimensions (RDs) and by principal components (PC) analysis of morphological landmarks captured from computed tomography images from 62 of the 64 reciprocal crosses of the CC founder strains. We first identified aspects of skull morphology that vary between these phenotypically 'normal' founder strains and that are defining characteristics of these strains. We estimated the contributions of additive and various non-additive genetic factors to phenotypic variation using diallel analyses of a subset of these strongly differing RDs and the first eight PCs of skull shape variation. We find little difference in the genetic contributions to RD measures and PC scores, suggesting fundamental similarities in the magnitude of genetic contributions to both specific and summary measures of craniofacial phenotypes. Our results indicate that there are stronger additive genetic effects associated with defining phenotypic characteristics of specific founder strains, suggesting these distinguishing measures are good candidates for use in genotype-phenotype association studies of CC mice. Our results add significantly to understanding of genotype-phenotype associations in the skull, which serve as a foundation for modeling the origins of medically

  3. Behaviorally Relevant Abstract Object Identity Representation in the Human Parietal Cortex

    PubMed Central

    Jeong, Su Keun

    2016-01-01

    The representation of object identity is fundamental to human vision. Using fMRI and multivoxel pattern analysis, here we report the representation of highly abstract object identity information in human parietal cortex. Specifically, in superior intraparietal sulcus (IPS), a region previously shown to track visual short-term memory capacity, we found object identity representations for famous faces varying freely in viewpoint, hairstyle, facial expression, and age; and for well known cars embedded in different scenes, and shown from different viewpoints and sizes. Critically, these parietal identity representations were behaviorally relevant as they closely tracked the perceived face-identity similarity obtained in a behavioral task. Meanwhile, the task-activated regions in prefrontal and parietal cortices (excluding superior IPS) did not exhibit such abstract object identity representations. Unlike previous studies, we also failed to observe identity representations in posterior ventral and lateral visual object-processing regions, likely due to the greater amount of identity abstraction demanded by our stimulus manipulation here. Our MRI slice coverage precluded us from examining identity representation in anterior temporal lobe, a likely region for the computing of identity information in the ventral region. Overall, we show that human parietal cortex, part of the dorsal visual processing pathway, is capable of holding abstract and complex visual representations that are behaviorally relevant. These results argue against a “content-poor” view of the role of parietal cortex in attention. Instead, the human parietal cortex seems to be “content rich” and capable of directly participating in goal-driven visual information representation in the brain. SIGNIFICANCE STATEMENT The representation of object identity (including faces) is fundamental to human vision and shapes how we interact with the world. Although object representation has traditionally been

  4. UNDERSTANDING THE PARIETAL LOBE SYNDROME FROM A NEUROPHYSIOLOGICAL AND EVOLUTIONARY PERSPECTIVE

    PubMed Central

    Caminiti, Roberto; Chafee, Matthew V.; Battaglia-Mayer, Alexandra; Averbeck, Bruno B.; Crowe, David A.; Georgopoulos, Apostolos P.

    2010-01-01

    In human and non-human primates parietal cortex is formed by a multiplicity of areas. For those of the Superior Parietal Lobule (SPL) there exists a certain homology between man and macaques. As a consequence, Optic Ataxia, a disturbed visual control of hand reaching, has similar features in man and monkeys. Establishing such correspondence has proven difficult for the areas of the Inferior Parietal Lobule (IPL). This difficulty depends on many factors. First, no physiological information is available in man on the dynamic properties of cells in the IPL. Second, the number of IPL areas identified in the monkey is paradoxically higher that that so far described in man, although this issue will probably be reconsidered in future years, thanks to comparative imaging studies. Third, the consequences of parietal lesions in monkeys do not always match those observed in humans. This is another paradox if one considers that, in certain cases, the functional properties of neurons in the monkeys IPL would predict the presence of behavioral skills, such as construction capacity, that however do not seem to emerge in the wild. Therefore, Constructional Apraxia, which is well characterized in man, has never been described in monkeys and apes. Finally, only certain aspects, i.e. hand Directional Hypokinesia and Gaze Apraxia (Balint's Psychic Paralysis of Gaze), of the multifaceted syndrome Hemispatial Neglect have been described in monkeys. These similarities, differences and paradoxes, among many others, make the study of the evolution and function of parietal cortex a challenging “case”. PMID:20550568

  5. Frontal and parietal lobe involvement in the processing of pretence and intention.

    PubMed

    Chiavarino, Claudia; Apperly, Ian A; Humphreys, Glyn W

    2009-09-01

    We assessed whether different processes might be at play during pretence understanding by examining breakdowns of performance in participants with acquired brain damage. In Experiment 1 patients with frontal or parietal lesions and neurologically intact adults were asked to categorize videos of pretend and real actions. In Experiment 2 participants saw three types of videos: real intentional actions, real accidental actions, and pretend actions. In one session they judged whether the actions they saw were intentional or accidental, and in a second session they judged whether the actions were real or pretend. Parietal patients had particular difficulties in the identification of pretend actions, and both parietal and frontal patients were more impaired than controls in understanding the intentional nature of pretence. Analyses of individual patients' performance revealed that parietal lesions, and in particular lesions to the temporo-parietal junction, impaired the ability to discriminate pretend from real actions. However, this did not necessarily affect the discrimination of intentional from unintentional actions, which instead may be independently disrupted by damage to frontal areas. Moreover, spared ability to discriminate pretend actions from real actions, and intentional actions from accidental actions, did not grant a full conceptual understanding of the intentional nature of pretence. The implications for pretence understanding are discussed. PMID:19219753

  6. Understanding the parietal lobe syndrome from a neurophysiological and evolutionary perspective.

    PubMed

    Caminiti, Roberto; Chafee, Matthew V; Battaglia-Mayer, Alexandra; Averbeck, Bruno B; Crowe, David A; Georgopoulos, Apostolos P

    2010-06-01

    In human and nonhuman primates parietal cortex is formed by a multiplicity of areas. For those of the superior parietal lobule (SPL) there exists a certain homology between man and macaques. As a consequence, optic ataxia, a disturbed visual control of hand reaching, has similar features in man and monkeys. Establishing such correspondence has proven difficult for the areas of the inferior parietal lobule (IPL). This difficulty depends on many factors. First, no physiological information is available in man on the dynamic properties of cells in the IPL. Second, the number of IPL areas identified in the monkey is paradoxically higher than that so far described in man, although this issue will probably be reconsidered in future years, thanks to comparative imaging studies. Third, the consequences of parietal lesions in monkeys do not always match those observed in humans. This is another paradox if one considers that, in certain cases, the functional properties of neurons in the monkey's IPL would predict the presence of behavioral skills, such as construction capacity, that however do not seem to emerge in the wild. Therefore, constructional apraxia, which is well characterized in man, has never been described in monkeys and apes. Finally, only certain aspects, i.e. hand directional hypokinesia and gaze apraxia (Balint's psychic paralysis of gaze), of the multifaceted syndrome hemispatial neglect have been described in monkeys. These similarities, differences and paradoxes, among many others, make the study of the evolution and function of parietal cortex a challenging case. PMID:20550568

  7. Feature integration in visual working memory: parietal gamma activity is related to cognitive coordination.

    PubMed

    Morgan, Helen M; Muthukumaraswamy, Suresh D; Hibbs, Carina S; Shapiro, Kimron L; Bracewell, R Martyn; Singh, Krish D; Linden, David E J

    2011-12-01

    The mechanism by which distinct subprocesses in the brain are coordinated is a central conundrum of systems neuroscience. The parietal lobe is thought to play a key role in visual feature integration, and oscillatory activity in the gamma frequency range has been associated with perception of coherent objects and other tasks requiring neural coordination. Here, we examined the neural correlates of integrating mental representations in working memory and hypothesized that parietal gamma activity would be related to the success of cognitive coordination. Working memory is a classic example of a cognitive operation that requires the coordinated processing of different types of information and the contribution of multiple cognitive domains. Using magnetoencephalography (MEG), we report parietal activity in the high gamma (80-100 Hz) range during manipulation of visual and spatial information (colors and angles) in working memory. This parietal gamma activity was significantly higher during manipulation of visual-spatial conjunctions compared with single features. Furthermore, gamma activity correlated with successful performance during the conjunction task but not during the component tasks. Cortical gamma activity in parietal cortex may therefore play a role in cognitive coordination. PMID:21940605

  8. Human posterior parietal cortex plans where to reach and what to avoid.

    PubMed

    Lindner, Axel; Iyer, Asha; Kagan, Igor; Andersen, Richard A

    2010-09-01

    In this time-resolved functional magnetic resonance imaging (fMRI) study, we aimed to trace the neuronal correlates of covert planning processes that precede visually guided motor behavior. Specifically, we asked whether human posterior parietal cortex has prospective planning activity that can be distinguished from activity related to retrospective visual memory and attention. Although various electrophysiological studies in monkeys have demonstrated such motor planning at the level of parietal neurons, comparatively little support is provided by recent human imaging experiments. Rather, a majority of experiments highlights a role of human posterior parietal cortex in visual working memory and attention. We thus sought to establish a clear separation of visual memory and attention from processes related to the planning of goal-directed motor behaviors. To this end, we compared delayed-response tasks with identical mnemonic and attentional demands but varying degrees of motor planning. Subjects memorized multiple target locations, and in a random subset of trials targets additionally instructed (1) desired goals or (2) undesired goals for upcoming finger reaches. Compared with the memory/attention-only conditions, both latter situations led to a specific increase of preparatory fMRI activity in posterior parietal and dorsal premotor cortex. Thus, posterior parietal cortex has prospective plans for upcoming behaviors while considering both types of targets relevant for action: those to be acquired and those to be avoided. PMID:20810892

  9. Role of Medio-Dorsal Frontal and Posterior Parietal Neurons during Auditory Detection Performance in Rats

    PubMed Central

    Bohon, Kaitlin S.; Wiest, Michael C.

    2014-01-01

    To further characterize the role of frontal and parietal cortices in rat cognition, we recorded action potentials simultaneously from multiple sites in the medio-dorsal frontal cortex and posterior parietal cortex of rats while they performed a two-choice auditory detection task. We quantified neural correlates of task performance, including response movements, perception of a target tone, and the differentiation between stimuli with distinct features (different pitches or durations). A minority of units—15% in frontal cortex, 23% in parietal cortex—significantly distinguished hit trials (successful detections, response movement to the right) from correct rejection trials (correct leftward response to the absence of the target tone). Estimating the contribution of movement-related activity to these responses suggested that more than half of these units were likely signaling correct perception of the auditory target, rather than merely movement direction. In addition, we found a smaller and mostly not overlapping population of units that differentiated stimuli based on task-irrelevant details. The detection-related spiking responses we observed suggest that correlates of perception in the rat are sparsely represented among neurons in the rat's frontal-parietal network, without being concentrated preferentially in frontal or parietal areas. PMID:25479194

  10. Estimating frontal and parietal involvement in cognitive estimation: a study of focal neurodegenerative diseases

    PubMed Central

    Bisbing, Teagan A.; Olm, Christopher A.; McMillan, Corey T.; Rascovsky, Katya; Baehr, Laura; Ternes, Kylie; Irwin, David J.; Clark, Robin; Grossman, Murray

    2015-01-01

    We often estimate an unknown value based on available relevant information, a process known as cognitive estimation. In this study, we assess the cognitive and neuroanatomic basis for quantitative estimation by examining deficits in patients with focal neurodegenerative disease in frontal and parietal cortex. Executive function and number knowledge are key components in cognitive estimation. Prefrontal cortex has been implicated in multilevel reasoning and planning processes, and parietal cortex has been associated with number knowledge required for such estimations. We administered the Biber cognitive estimation test (BCET) to assess cognitive estimation in 22 patients with prefrontal disease due to behavioral variant frontotemporal dementia (bvFTD), to 17 patients with parietal disease due to corticobasal syndrome (CBS) or posterior cortical atrophy (PCA) and 11 patients with mild cognitive impairment (MCI). Both bvFTD and CBS/PCA patients had significantly more difficulty with cognitive estimation than controls. MCI were not impaired on BCET relative to controls. Regression analyses related BCET performance to gray matter atrophy in right lateral prefrontal and orbital frontal cortices in bvFTD, and to atrophy in right inferior parietal cortex, right insula, and fusiform cortices in CBS/PCA. These results are consistent with the hypothesis that a frontal-parietal network plays a crucial role in cognitive estimation. PMID:26089786

  11. Neural sources of visual working memory maintenance in human parietal and ventral extrastriate visual cortex.

    PubMed

    Becke, Andreas; Müller, Notger; Vellage, Anne; Schoenfeld, Mircea Ariel; Hopf, Jens-Max

    2015-04-15

    Maintaining information in visual working memory is reliably indexed by the contralateral delay activity (CDA) - a sustained modulation of the event-related potential (ERP) with a topographical maximum over posterior scalp regions contralateral to the memorized input. Based on scalp topography, it is hypothesized that the CDA reflects neural activity in the parietal cortex, but the precise cortical origin of underlying electric activity was never determined. Here we combine ERP recordings with magnetoencephalography based source localization to characterize the cortical current sources generating the CDA. Observers performed a cued delayed match to sample task where either the color or the relative position of colored dots had to be maintained in memory. A detailed source-localization analysis of the magnetic activity in the retention interval revealed that the magnetic analog of the CDA (mCDA) is generated by current sources in the parietal cortex. Importantly, we find that the mCDA also receives contribution from current sources in the ventral extrastriate cortex that display a time-course similar to the parietal sources. On the basis of the magnetic responses, forward modeling of ERP data reveals that the ventral sources have non-optimal projections and that these sources are therefore concealed in the ERP by overlapping fields with parietal projections. The present observations indicate that visual working memory maintenance, as indexed by the CDA, involves the parietal cortical regions as well as the ventral extrastriate regions, which code the sensory representation of the memorized content. PMID:25662867

  12. Spatially invariant coding of numerical information in functionally defined subregions of human parietal cortex.

    PubMed

    Eger, E; Pinel, P; Dehaene, S; Kleinschmidt, A

    2015-05-01

    Macaque electrophysiology has revealed neurons responsive to number in lateral (LIP) and ventral (VIP) intraparietal areas. Recently, fMRI pattern recognition revealed information discriminative of individual numbers in human parietal cortex but without precisely localizing the relevant sites or testing for subregions with different response profiles. Here, we defined the human functional equivalents of LIP (feLIP) and VIP (feVIP) using neurophysiologically motivated localizers. We applied multivariate pattern recognition to investigate whether both regions represent numerical information and whether number codes are position specific or invariant. In a delayed number comparison paradigm with laterally presented numerosities, parietal cortex discriminated between numerosities better than early visual cortex, and discrimination generalized across hemifields in parietal, but not early visual cortex. Activation patterns in the 2 parietal regions of interest did not differ in the coding of position-specific or position-independent number information, but in the expression of a numerical distance effect which was more pronounced in feLIP. Thus, the representation of number in parietal cortex is at least partially position invariant. Both feLIP and feVIP contain information about individual numerosities in humans, but feLIP hosts a coarser representation of numerosity than feVIP, compatible with either broader tuning or a summation code. PMID:24293562

  13. Physiological implications of the abnormal absence of the parietal foramen in a late Permian cynodont (Therapsida)

    NASA Astrophysics Data System (ADS)

    Benoit, Julien; Abdala, Fernando; Van den Brandt, Marc J.; Manger, Paul R.; Rubidge, Bruce S.

    2015-12-01

    The third eye (pineal eye), an organ responsible for regulating exposure to sunlight in extant ectotherms, is located in an opening on the dorsal surface of the skull, the parietal foramen. The parietal foramen is absent in extant mammals but often observed in basal therapsids, the stem-group to true mammals. Here, we report the absence of the parietal foramen in a specimen of Cynosaurus suppostus, a Late Permian cynodont from South Africa (SA). Comparison with Procynosuchus delaharpeae, a contemporaneous non-mammalian cynodont from SA, demonstrates that the absence of this foramen is an abnormal condition for such a basal species. Because seasonality was marked during the Late Permian in SA, it is proposed that the third eye was functionally redundant in Cynosaurus, possibly due to the acquisition of better thermoregulation or the evolution of specialized cells in the lateral eyes to compensate for the role of the third eye.

  14. Fractionation of parietal function in bistable perception probed with concurrent TMS-EEG.

    PubMed

    Schauer, Georg; Chang, Acer; Schwartzman, David; Rae, Charlotte L; Iriye, Heather; Seth, Anil K; Kanai, Ryota

    2016-01-01

    When visual input has conflicting interpretations, conscious perception can alternate spontaneously between these possible interpretations. This is called bistable perception. Previous neuroimaging studies have indicated the involvement of two right parietal areas in resolving perceptual ambiguity (ant-SPLr and post-SPLr). Transcranial magnetic stimulation (TMS) studies that selectively interfered with the normal function of these regions suggest that they play opposing roles in this type of perceptual switch. In the present study, we investigated this fractionation of parietal function by use of combined TMS with electroencephalography (EEG). Specifically, while participants viewed either a bistable stimulus, a replay stimulus, or resting-state fixation, we applied single pulse TMS to either location independently while simultaneously recording EEG. Combined with participant's individual structural magnetic resonance imaging (MRI) scans, this dataset allows for complex analyses of the effect of TMS on neural time series data, which may further elucidate the causal role of the parietal cortex in ambiguous perception. PMID:27529410

  15. Fractionation of parietal function in bistable perception probed with concurrent TMS-EEG

    PubMed Central

    Schauer, Georg; Chang, Acer; Schwartzman, David; Rae, Charlotte L.; Iriye, Heather; Seth, Anil K.; Kanai, Ryota

    2016-01-01

    When visual input has conflicting interpretations, conscious perception can alternate spontaneously between these possible interpretations. This is called bistable perception. Previous neuroimaging studies have indicated the involvement of two right parietal areas in resolving perceptual ambiguity (ant-SPLr and post-SPLr). Transcranial magnetic stimulation (TMS) studies that selectively interfered with the normal function of these regions suggest that they play opposing roles in this type of perceptual switch. In the present study, we investigated this fractionation of parietal function by use of combined TMS with electroencephalography (EEG). Specifically, while participants viewed either a bistable stimulus, a replay stimulus, or resting-state fixation, we applied single pulse TMS to either location independently while simultaneously recording EEG. Combined with participant’s individual structural magnetic resonance imaging (MRI) scans, this dataset allows for complex analyses of the effect of TMS on neural time series data, which may further elucidate the causal role of the parietal cortex in ambiguous perception. PMID:27529410

  16. Benign fibrous histiocytoma of parietal bone: case report and review of the literature.

    PubMed

    Yang, Lili; Feng, Yan; Yan, Xu; Li, Yanhui; Bie, Li

    2015-01-01

    A benign fibrous histiocytoma with primary site of origin in the parietal bone has not yet been reported in the literature. We report here a case concerning a 12-year-old girl with a 14-month history of an enlarging parietal bone mass. The tumor was excised after removal of the cortical bone and resection of the tumor surrounding the cortical bone erosion using pre-plasticity titanium repair. Both postoperative histopathological examination and immunohistochemical analysis were consistent with a benign fibrous histiocytoma. No clinical or computed tomography (CT) radiological signs of tumor recurrence and/or metastasis were observed at 12 months. Although a primary benign fibrous histiocytoma of the parietal bone is a rare tumor, it should be considered as a potential diagnosis for any cranial tumor. Surgical intervention is the most effective treatment technique for a benign fibrous histiocytoma. PMID:25951848

  17. Optimized Gamma Synchronization Enhances Functional Binding of Fronto-Parietal Cortices in Mathematically Gifted Adolescents during Deductive Reasoning.

    PubMed

    Zhang, Li; Gan, John Q; Wang, Haixian

    2014-01-01

    As enhanced fronto-parietal network has been suggested to support reasoning ability of math-gifted adolescents, the main goal of this EEG source analysis is to investigate the temporal binding of the gamma-band (30-60 Hz) synchronization between frontal and parietal cortices in adolescents with exceptional mathematical ability, including the functional connectivity of gamma neurocognitive network, the temporal dynamics of fronto-parietal network (phase-locking durations and network lability in time domain), and the self-organized criticality of synchronizing oscillation. Compared with the average-ability subjects, the math-gifted adolescents show a highly integrated fronto-parietal network due to distant gamma phase-locking oscillations, which is indicated by lower modularity of the global network topology, more "connector bridges" between the frontal and parietal cortices and less "connector hubs" in the sensorimotor cortex. The time domain analysis finds that, while maintaining more stable phase dynamics of the fronto-parietal coupling, the math-gifted adolescents are characterized by more extensive fronto-parietal connection reconfiguration. The results from sample fitting in the power-law model further find that the phase-locking durations in the math-gifted brain abides by a wider interval of the power-law distribution. This phase-lock distribution mechanism could represent a relatively optimized pattern for the functional binding of frontal-parietal network, which underlies stable fronto-parietal connectivity and increases flexibility of timely network reconfiguration. PMID:24966829

  18. Optimized Gamma Synchronization Enhances Functional Binding of Fronto-Parietal Cortices in Mathematically Gifted Adolescents during Deductive Reasoning

    PubMed Central

    Zhang, Li; Gan, John Q.; Wang, Haixian

    2014-01-01

    As enhanced fronto-parietal network has been suggested to support reasoning ability of math-gifted adolescents, the main goal of this EEG source analysis is to investigate the temporal binding of the gamma-band (30–60 Hz) synchronization between frontal and parietal cortices in adolescents with exceptional mathematical ability, including the functional connectivity of gamma neurocognitive network, the temporal dynamics of fronto-parietal network (phase-locking durations and network lability in time domain), and the self-organized criticality of synchronizing oscillation. Compared with the average-ability subjects, the math-gifted adolescents show a highly integrated fronto-parietal network due to distant gamma phase-locking oscillations, which is indicated by lower modularity of the global network topology, more “connector bridges” between the frontal and parietal cortices and less “connector hubs” in the sensorimotor cortex. The time domain analysis finds that, while maintaining more stable phase dynamics of the fronto-parietal coupling, the math-gifted adolescents are characterized by more extensive fronto-parietal connection reconfiguration. The results from sample fitting in the power-law model further find that the phase-locking durations in the math-gifted brain abides by a wider interval of the power-law distribution. This phase-lock distribution mechanism could represent a relatively optimized pattern for the functional binding of frontal–parietal network, which underlies stable fronto-parietal connectivity and increases flexibility of timely network reconfiguration. PMID:24966829

  19. A Threshold Neurotoxic Amphetamine Exposure Inhibits Parietal Cortex Expression of Synaptic Plasticity-Related Genes

    PubMed Central

    Bowyer, John F.; Pogge, Amy R.; Delongchamp, Robert R.; O'Callaghan, James P.; Patel, Kruti M.; Vrana, Kent E.; Freeman, Willard M.

    2007-01-01

    Compulsive drug abuse has been conceptualized as a behavioral state where behavioral stimuli override normal decision making. Clinical studies of methamphetamine users have detailed decision making changes and imaging studies have found altered metabolism and activation in the parietal cortex. To examine the molecular effects of amphetamine on the parietal cortex, gene expression responses to amphetamine challenge (7.5mg/kg) were examined in the parietal cortex of rats pretreated for nine days with either saline, non-neurotoxic AMPH, or neurotoxic AMPH dosing regimens. The neurotoxic AMPH exposure [3 doses of 7.5 mg/kg/day AMPH (6 hr between doses), for nine days] produced histological signs of neurotoxicity in the parietal cortex while a non-neurotoxic dosing regimen (2.0 mg/kg/day × 3) did not. Neurotoxic AMPH pretreatment resulted in significantly diminished AMPH challenge-induced mRNA increases of activity-regulated cytoskeletal protein (ARC), nerve growth-factor inducible protein A (NGFI-A), and nerve growth-factor inducible protein B (NGFI-B) in the parietal cortex while neither saline pretreatment nor non-neurotoxic AMPH pretreatment did. This effect was specific to these genes as tissue plasminogen activator (t-PA), neuropeptide Y (NPY) and c-jun expression in response to AMPH challenge was unaltered or enhanced by amphetamine pretreatements. In the striatum, there were no differences between saline, neurotoxic AMPH, and non-neurotoxic AMPH pretreatments on ARC, NGFI-A or NGFI-B expression elicited by the AMPH challenge. These data indicate that the responsiveness of synaptic plasticity related genes are sensitive to disruption specifically in the parietal cortex by threshold neurotoxic AMPH exposures. PMID:17049170

  20. Vacuolar-type H+-ATPase-mediated proton transport in the rat parietal cell.

    PubMed

    Kopic, Sascha; Wagner, Maximilian E H; Griessenauer, Christoph; Socrates, Thenral; Ritter, Markus; Geibel, John P

    2012-03-01

    The vacuolar-type H-ATPase (V-ATPase) plays an important role in the active acidification of intracellular organelles. In certain specialized cells, such as the renal intercalated cell, apical V-ATPase can also function as a proton secretion pathway. In the parietal cells of the stomach, it has been thought that acid secretion is controlled solely via the H,K-ATPase. However, recent observations suggest that functional V-ATPase is necessary for acid secretion to take place. This study aimed to investigate and characterize the role of V-ATPase in parietal cell proton transport. Individual rat gastric glands were incubated with the pH-sensitive dye (BCECF) to monitor changes in intracellular pH in real time. Parietal cell V-ATPase activity was measured by quantifying the rate of intracellular alkalinization (ΔpH/minute) following an acid load, while excluding the contribution of non-V-ATPase proton transport mechanisms through pharmacological inhibition or ion substitution. Expression of V-ATPase was confirmed by immunohistochemistry. We observed concanamycin A-sensitive V-ATPase activity in rat parietal cells following intracellular acidification and H,K-ATPase inhibition. Furthermore, V-ATPase-mediated proton transport could be abolished by inhibiting trafficking mechanisms with paclitaxel and by stimulating H,K-ATPase with acid secretagogues. Our results propose that parietal cells contain a functional V-ATPase that can be mobilized using a microtubule network. V-ATPase may function as an auxiliary acid secretion or proton-buffering pathway in parietal cells, which is inactive during H,K-ATPase activity. Our findings may have important implications for patients experiencing acid breakthrough under proton pump inhibitor therapy. PMID:22146938

  1. Frontal and Parietal Cortices Show Different Spatiotemporal Dynamics across Problem-solving Stages.

    PubMed

    Tschentscher, Nadja; Hauk, Olaf

    2016-08-01

    Arithmetic problem-solving can be conceptualized as a multistage process ranging from task encoding over rule and strategy selection to step-wise task execution. Previous fMRI research suggested a frontal-parietal network involved in the execution of complex numerical and nonnumerical tasks, but evidence is lacking on the particular contributions of frontal and parietal cortices across time. In an arithmetic task paradigm, we evaluated individual participants' "retrieval" and "multistep procedural" strategies on a trial-by-trial basis and contrasted those in time-resolved analyses using combined EEG and MEG. Retrieval strategies relied on direct retrieval of arithmetic facts (e.g., 2 + 3 = 5). Procedural strategies required multiple solution steps (e.g., 12 + 23 = 12 + 20 + 3 or 23 + 10 + 2). Evoked source analyses revealed independent activation dynamics within the first second of problem-solving in brain areas previously described as one network, such as the frontal-parietal cognitive control network: The right frontal cortex showed earliest effects of strategy selection for multistep procedural strategies around 300 msec, before parietal cortex activated around 700 msec. In time-frequency source power analyses, memory retrieval and multistep procedural strategies were differentially reflected in theta, alpha, and beta frequencies: Stronger beta and alpha desynchronizations emerged for procedural strategies in right frontal, parietal, and temporal regions as function of executive demands. Arithmetic fact retrieval was reflected in right prefrontal increases in theta power. Our results demonstrate differential brain dynamics within frontal-parietal networks across the time course of a problem-solving process, and analyses of different frequency bands allowed us to disentangle cortical regions supporting the underlying memory and executive functions. PMID:27027542

  2. Multimodal responses induced by cortical stimulation of the parietal lobe: a stereo-electroencephalography study.

    PubMed

    Balestrini, Simona; Francione, Stefano; Mai, Roberto; Castana, Laura; Casaceli, Giuseppe; Marino, Daniela; Provinciali, Leandro; Cardinale, Francesco; Tassi, Laura

    2015-09-01

    The functional complexity of the parietal lobe still represents a challenge for neurophysiological and functional neuroimaging studies. While the somatosensory functions of the anterior parietal cortex are well established, the posterior parietal cortex has a relevant role in processing the sensory information, including visuo-spatial perception, visual attention, visuo-motor transformations and other complex and not completely understood functions. We retrospectively analysed all the clinical manifestations induced by intracerebral bipolar electrical stimulation in 172 patients suffering from drug-resistant focal epilepsy (mean age 25.6, standard deviation 11.6; 44% females and 56% males) with at least one electrode stereotactically implanted in the parietal cortex. A total of 1186 electrical stimulations were included in the analysis, of which 88 were subsequently excluded because of eliciting pathological electric activity or inducing ictal symptomatology. In the dominant parietal lobe, clinical responses were observed for 56 (25%) of the low-frequency stimulations and for 76 (50%) of the high-frequency stimulations. In the non-dominant parietal lobe, 111 (27%) low-frequency and 176 (55%) high-frequency stimulations were associated with a clinical response. Body scheme alteration was the only clinical effect showing a lateralization, as they were evoked only in the non-dominant hemisphere. The occurrence of somatosensory sensations, motor symptoms, dysarthria and multimodal responses were significantly associated with stimulation of the postcentral gyrus (odds ratio: 5.83, P < 0.001; odds ratio: 8.77, P < 0.001; odds ratio: 5.44, P = 0.011; odds ratio: 8.33, P = 0.006; respectively). Stimulation of the intraparietal sulcus was associated with the occurrence of sensory illusions or hallucinations (odds ratio: 8.68, P < 0.001) and eyeball/eyelid movements or sensations (odds ratio: 4.35, P = 0.047). To our knowledge, this is the only currently available complete

  3. The Ribosome Biogenesis Factor Nol11 Is Required for Optimal rDNA Transcription and Craniofacial Development in Xenopus

    PubMed Central

    Griffin, John N.; Sondalle, Samuel B.; del Viso, Florencia; Baserga, Susan J.; Khokha, Mustafa K.

    2015-01-01

    The production of ribosomes is ubiquitous and fundamental to life. As such, it is surprising that defects in ribosome biogenesis underlie a growing number of symptomatically distinct inherited disorders, collectively called ribosomopathies. We previously determined that the nucleolar protein, NOL11, is essential for optimal pre-rRNA transcription and processing in human tissue culture cells. However, the role of NOL11 in the development of a multicellular organism remains unknown. Here, we reveal a critical function for NOL11 in vertebrate ribosome biogenesis and craniofacial development. Nol11 is strongly expressed in the developing cranial neural crest (CNC) of both amphibians and mammals, and knockdown of Xenopus nol11 results in impaired pre-rRNA transcription and processing, increased apoptosis, and abnormal development of the craniofacial cartilages. Inhibition of p53 rescues this skeletal phenotype, but not the underlying ribosome biogenesis defect, demonstrating an evolutionarily conserved control mechanism through which ribosome-impaired craniofacial cells are removed. Excessive activation of this mechanism impairs craniofacial development. Together, our findings reveal a novel requirement for Nol11 in craniofacial development, present the first frog model of a ribosomopathy, and provide further insight into the clinically important relationship between specific ribosome biogenesis proteins and craniofacial cell survival. PMID:25756904

  4. The ribosome biogenesis factor Nol11 is required for optimal rDNA transcription and craniofacial development in Xenopus.

    PubMed

    Griffin, John N; Sondalle, Samuel B; Del Viso, Florencia; Baserga, Susan J; Khokha, Mustafa K

    2015-03-01

    The production of ribosomes is ubiquitous and fundamental to life. As such, it is surprising that defects in ribosome biogenesis underlie a growing number of symptomatically distinct inherited disorders, collectively called ribosomopathies. We previously determined that the nucleolar protein, NOL11, is essential for optimal pre-rRNA transcription and processing in human tissue culture cells. However, the role of NOL11 in the development of a multicellular organism remains unknown. Here, we reveal a critical function for NOL11 in vertebrate ribosome biogenesis and craniofacial development. Nol11 is strongly expressed in the developing cranial neural crest (CNC) of both amphibians and mammals, and knockdown of Xenopus nol11 results in impaired pre-rRNA transcription and processing, increased apoptosis, and abnormal development of the craniofacial cartilages. Inhibition of p53 rescues this skeletal phenotype, but not the underlying ribosome biogenesis defect, demonstrating an evolutionarily conserved control mechanism through which ribosome-impaired craniofacial cells are removed. Excessive activation of this mechanism impairs craniofacial development. Together, our findings reveal a novel requirement for Nol11 in craniofacial development, present the first frog model of a ribosomopathy, and provide further insight into the clinically important relationship between specific ribosome biogenesis proteins and craniofacial cell survival. PMID:25756904

  5. Dental Approach to Craniofacial Syndromes: How Can Developmental Fields Show Us a New Way to Understand Pathogenesis?

    PubMed Central

    Kjær, Inger

    2012-01-01

    The paper consists of three parts. Part 1: Definition of Syndromes. Focus is given to craniofacial syndromes in which abnormal traits in the dentition are associated symptoms. In the last decade, research has concentrated on phenotype, genotype, growth, development, function, and treatment. Part 2: Syndromes before Birth. How can the initial malformation sites in these syndromes be studied and what can we learn from it? In this section, deviations observed in syndromes prenatally will be highlighted and compared to the normal human embryological craniofacial development. Specific focus will be given to developmental fields studied on animal tissue and transferred to human cranial development. Part 3: Developmental Fields Affected in Two Craniofacial Syndromes. Analysis of primary and permanent dentitions can determine whether a syndrome affects a single craniofacial field or several fields. This distinction is essential for insight into craniofacial syndromes. The dentition, thus, becomes central in diagnostics and evaluation of the pathogenesis. Developmental fields can explore and advance the concept of dental approaches to craniofacial syndromes. Discussion. As deviations in teeth persist and do not reorganize during growth and development, the dentition is considered useful for distinguishing between syndrome pathogenesis manifested in a single developmental field and in several fields. PMID:23091490

  6. Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

    PubMed Central

    Gordon, Christopher T.; Attanasio, Catia; Bhatia, Shipra; Benko, Sabina; Ansari, Morad; Tan, Tiong Y.; Munnich, Arnold; Pennacchio, Len A.; Abadie, Véronique; Temple, I. Karen; Goldenberg, Alice; van Heyningen, Veronica; Amiel, Jeanne; FitzPatrick, David; Kleinjan, Dirk A.; Visel, Axel; Lyonnet, Stanislas

    2015-01-01

    Mutations in the coding sequence of SOX9 cause campomelic dysplasia (CD), a disorder of skeletal development associated with 46,XY disorders of sex development (DSDs). Translocations, deletions and duplications within a ~2 Mb region upstream of SOX9 can recapitulate the CD-DSD phenotype fully or partially, suggesting the existence of an unusually large cis-regulatory control region. Pierre Robin sequence (PRS) is a craniofacial disorder that is frequently an endophenotype of CD and a locus for isolated PRS at ~1.2-1.5 Mb upstream of SOX9 has been previously reported. The craniofacial regulatory potential within this locus, and within the greater genomic domain surrounding SOX9, remains poorly defined. We report two novel deletions upstream of SOX9 in families with PRS, allowing refinement of the regions harbouring candidate craniofacial regulatory elements. In parallel, ChIP-Seq for p300 binding sites in mouse craniofacial tissue led to the identification of several novel craniofacial enhancers at the SOX9 locus, which were validated in transgenic reporter mice and zebrafish. Notably, some of the functionally validated elements fall within the PRS deletions. These studies suggest that multiple non-coding elements contribute to the craniofacial regulation of SOX9 expression, and that their disruption results in PRS. PMID:24934569

  7. [Compression of a nasotracheal tube in the nasal cavity of a patient with craniofacial fibrous dysplasia].

    PubMed

    Takasugi, Yoshihiro; Iwamoto, Tatsushige; Uehara, Keiji; Shiba, Mayuka; Koga, Yoshihisa

    2008-06-01

    A 42-year-old woman with craniofacial fibrous dysplasia underwent osteoplasty of maxillary and mandibular bone. Preoperative CT images showed osteosclerosis and ground glass appearance of the right side of the skull including the orbit, temporal bone, paranasal sinus, and maxillary and mandibular bones, as well as hypertrophy of the nasal septum. Inhalation anesthesia was induced and 8.0-mmID polyvinyl chloride endotracheal tube was inserted via the left nostril with slight resistance. At emergence, a 10-Fr suction catheter could not be passed throgh the tube but an 8-Fr nasogastric tube could be passed. A part of the tube positioned in the nasal cavity was apparently compressed. Preoperative examination of the nasal cavity and nasal septum using CT or MRI may be desirable for nasotracheal intubation in the patients with craniofacial tumor, and the application of a spiral reinforced endotracheal tube may contribute to prevent such cases of airway obstruction in the nasal cavity. PMID:18546906

  8. Atypical Case of Congenital Maxillomandibular Fusion with Duplication of the Craniofacial Midline

    PubMed Central

    Martín, Lorena Pingarrón; Pérez, Mercedes Martín; García, Elena Gómez; Martín-Moro, Javier González; González, Jose Ignacio Rodríguez; García, Miguel Burgueño

    2011-01-01

    We report the first case of syngnathia with hypophyseal duplication and describe the central nervous system (CNS) and craniofacial anomalies associated with hypophyseal duplication in the reported autopsy case. We studied clinical reports, scanner images, and autopsy results of a 2-months-old female baby. The propositus had frontonasal dysmorphism, retrognathia, and bifid tongue. She also presented maxillomandibular bony fusion (syngnathia) and an intraoral hairy polyp. In the cranium, the sella turcica was broadened, with two complete hypophyses and two infundibulums. The CNS had both olfactory bulbs and corpus callosum agenesis. There are 27 previous cases of maxillomandibular fusion and seven previous autopsy cases of hypophyseal duplication associated with other frontonasal malformations. As far as the authors know, this is the first case reported in the literature that associates syngnathia with duplication of the craniofacial midline including hypophyseal duplication. PMID:22655122

  9. Current Concepts of Bone Tissue Engineering for Craniofacial Bone Defect Repair

    PubMed Central

    Fishero, Brian Alan; Kohli, Nikita; Das, Anusuya; Christophel, John Jared; Cui, Quanjun

    2014-01-01

    Craniofacial fractures and bony defects are common causes of morbidity and contribute to increasing health care costs. Successful regeneration of bone requires the concomitant processes of osteogenesis and neovascularization. Current methods of repair and reconstruction include rigid fixation, grafting, and free tissue transfer. However, these methods carry innate complications, including plate extrusion, nonunion, graft/flap failure, and donor site morbidity. Recent research efforts have focused on using stem cells and synthetic scaffolds to heal critical-sized bone defects similar to those sustained from traumatic injury or ablative oncologic surgery. Growth factors can be used to augment both osteogenesis and neovascularization across these defects. Many different growth factor delivery techniques and scaffold compositions have been explored yet none have emerged as the universally accepted standard. In this review, we will discuss the recent literature regarding the use of stem cells, growth factors, and synthetic scaffolds as alternative methods of craniofacial fracture repair. PMID:25709750

  10. New Methods to Evaluate Craniofacial Deformity and to Plan Surgical Correction

    PubMed Central

    Gateno, Jaime; Xia, James J.; Teichgraeber, John F.

    2011-01-01

    The success of cranio-maxillofacial (CMF) surgery depends not only on surgical techniques, but also upon an accurate surgical plan. Unfortunately, traditional planning methods are often inadequate for planning complex cranio-maxillofacial deformities. To this end, we developed 3D computer-aided surgical simulation (CASS) technique. Using our CASS method, we are able to treat patients with significant asymmetries in a single operation which in the past was usually completed in two stages. The purpose of this article is to introduce our CASS method in evaluating craniofacial deformities and planning surgical correction. In addition, we discuss the problems associated with the traditional surgical planning methods. Finally, we discuss the strength and pitfalls of using three-dimensional measurements to evaluate craniofacial deformity. PMID:21927548

  11. The Ubiquitin E3 Ligase NOSIP Modulates Protein Phosphatase 2A Activity in Craniofacial Development

    PubMed Central

    Hoffmeister, Meike; Prelle, Carola; Küchler, Philipp; Kovacevic, Igor; Moser, Markus; Müller-Esterl, Werner; Oess, Stefanie

    2014-01-01

    Holoprosencephaly is a common developmental disorder in humans characterised by incomplete brain hemisphere separation and midface anomalies. The etiology of holoprosencephaly is heterogeneous with environmental and genetic causes, but for a majority of holoprosencephaly cases the genes associated with the pathogenesis could not be identified so far. Here we report the generation of knockout mice for the ubiquitin E3 ligase NOSIP. The loss of NOSIP in mice causes holoprosencephaly and facial anomalies including cleft lip/palate, cyclopia and facial midline clefting. By a mass spectrometry based protein interaction screen we identified NOSIP as a novel interaction partner of protein phosphatase PP2A. NOSIP mediates the monoubiquitination of the PP2A catalytic subunit and the loss of NOSIP results in an increase in PP2A activity in craniofacial tissue in NOSIP knockout mice. We conclude, that NOSIP is a critical modulator of brain and craniofacial development in mice and a candidate gene for holoprosencephaly in humans. PMID:25546391

  12. The role of physical therapy in craniofacial pain disorders: an adjunct to dental pain management.

    PubMed

    Heinrich, S

    1991-01-01

    Treatment of craniofacial pain disorders is often complicated by diverse factors such as acute or chronic trauma and persistent postural changes. In addition, emotional issues and life stress often cloud the recovery process. Physical therapists, with their diverse knowledge base and highly competent treatment skills, can be quite effective in assisting dentists and physicians with management of the many difficult upper quarter and craniofacial pain syndromes. This article reviews the role of myofascial and craniosacral dysfunction, as well as the function of posture, tension, and stress in the development of these syndromes. Additionally, it provides a comprehensive overview of the many evaluative techniques and treatment options that can be provided by today's physical therapists. PMID:1843484

  13. Holoprosencephaly with Multiple Anomalies of the Craniofacial Bones-An Autopsy Report

    PubMed Central

    Aruna, E.; Chakravarthy, V. Kalyan; Rao, D. Naveen Chandar; Rao, D. Ranga

    2013-01-01

    Holoprosencephaly (HPE), a disorder which results from a failure of cleavage or the incomplete differentiation of the forebrain structures at various levels or to various degrees, is related to hereditary factors, chromosomal anomalies, cytogenetic abnormalities, and environmental teratogenic factors. We are reporting a case of a multiparous woman who was G3,P3,L2, who delivered a full term foetus with holoprosencephaly and multiple craniofacial anomalies. An autopsy was conducted. Multiple anomalies of the craniofacial bones, which include hypoplasia and synostosis of the frontal bone, anophthalmia, absence of the anterior cranial fossa, hypoplasia of the maxillae, an absent antrum, cleft palate, a central hare lip and arrhinia which includes absence of the nostrils and hypotelorism of the eye placodes, were noted. This case is being reported for its rarity and the available literature was reviewed in this respect. PMID:24086891

  14. Hand1 phosphoregulation within the distal arch neural crest is essential for craniofacial morphogenesis.

    PubMed

    Firulli, Beth A; Fuchs, Robyn K; Vincentz, Joshua W; Clouthier, David E; Firulli, Anthony B

    2014-08-01

    In this study we examine the consequences of altering Hand1 phosphoregulation in the developing neural crest cells (NCCs) of mice. Whereas Hand1 deletion in NCCs reveals a nonessential role for Hand1 in craniofacial development and embryonic survival, altering Hand1 phosphoregulation, and consequently Hand1 dimerization affinities, in NCCs results in severe mid-facial clefting and neonatal death. Hand1 phosphorylation mutants exhibit a non-cell-autonomous increase in pharyngeal arch cell death accompanied by alterations in Fgf8 and Shh pathway expression. Together, our data indicate that the extreme distal pharyngeal arch expression domain of Hand1 defines a novel bHLH-dependent activity, and that disruption of established Hand1 dimer phosphoregulation within this domain disrupts normal craniofacial patterning. PMID:25053435

  15. Pediatric craniofacial surgery for craniosynostosis: Our experience and current concepts: Part -1

    PubMed Central

    Anantheswar, Y. N.; Venkataramana, N. K.

    2009-01-01

    Craniostenosis is a disease characterized by untimely fusion of cranial sutures resulting in a variety of craniofacial deformities and neurological sequelae due to alteration in cranial volume and restriction of brain growth. This involves vault sutures predominantly, but cranial base is not immune. Association with a variety of syndromes makes the management decision complex. These children need careful evaluation by multiple specialists to have strategic treatment options. Parental counseling is an important and integral part of the treatment. Recent advancements in the surgical techniques and concept of team approach have significantly enhanced the safety and outcome of these children. We had an opportunity of treating 57 children with craniostenosis in the last 15 years at our craniofacial service. Out of them, 40 were nonsyndromic and 17 were syndromic variety. We describe our successful results along with individualized operative technical modifications adopted based on the current understanding of the disease. PMID:21887189

  16. The organization and delivery of craniofacial health services: the state of the art.

    PubMed

    Strauss, R P

    1999-05-01

    The dominant organizational structure providing care for cleft palate and other craniofacial conditions is the health care team. Various types of health care team organization are profiled, including intradisciplinary, multidisciplinary, and interdisciplinary teams. Effective team-based care delivery has the ability to address the fragmentation and dehumanization that can result when a variety of specialists and disciplines are required to provide assessment and technical care. A team's leadership and its hierarchy of professional authority can be expected to affect its ability to function effectively. Health reform and managed care are considered for their impact on the team and on the doctor-patient relationship. Trends in team regionalization, quality assurance, outcomes research, and consumer advocacy are reviewed. The cleft palate and craniofacial team is profiled as an organizational model that is being affected by the forces of health system change. PMID:10342606

  17. [Fifty years of plastic surgery in the Netherlands. VIII. Craniofacial surgery].

    PubMed

    Vaandrager, J M; van der Meulen, J C

    2000-06-01

    Craniofacial surgery has developed its own identity in the last 3 decades. The Frenchman Tessier can be seen as the founding father. His concept of intracranial correction of craniofacial malformations is still valid today. There have been many new developments such as distraction osteogenesis and biodegradable miniplate fixation. Microvascular surgery and vascularised calvarial bone grafts help to obtain more predictable results. Three-dimensional CT imaging techniques and modelling result in better surgical planning and help to understand the underlying pathology. Biomolecular knowledge of gene mutations leads to better understanding of the clinical diagnosis. The future will bring minimalisation of surgery and more therapy focused on biomolecular science. The psychosocial welfare of the patient will play a central role in the multidisciplinary team treatment. PMID:10876706

  18. Transferrin receptor facilitates TGF-β and BMP signaling activation to control craniofacial morphogenesis.

    PubMed

    Lei, R; Zhang, K; Liu, K; Shao, X; Ding, Z; Wang, F; Hong, Y; Zhu, M; Li, H; Li, H

    2016-01-01

    The Pierre Robin Sequence (PRS), consisting of cleft palate, glossoptosis and micrognathia, is a common human birth defect. However, how this abnormality occurs remains largely unknown. Here we report that neural crest cell (NCC)-specific knockout of transferrin receptor (Tfrc), a well known transferrin transporter protein, caused micrognathia, cleft palate, severe respiratory distress and inability to suckle in mice, which highly resemble human PRS. Histological and anatomical analysis revealed that the cleft palate is due to the failure of palatal shelves elevation that resulted from a retarded extension of Meckel's cartilage. Interestingly, Tfrc deletion dramatically suppressed both transforming growth factor-β (TGF-β) and bone morphogenetic protein (BMP) signaling in cranial NCCs-derived mandibular tissues, suggesting that Tfrc may act as a facilitator of these two signaling pathways during craniofacial morphogenesis. Together, our study uncovers an unknown function of Tfrc in craniofacial development and provides novel insight into the etiology of PRS. PMID:27362800

  19. Craniofacial deformities in transfusion-dependent thalassemia patients in Malaysia: prevalence and effect of treatment.

    PubMed

    Toman, Heba Ahmed; Hassan, Rozita; Hassan, Rosline; Nasir, Ariffin

    2011-09-01

    This comparative cross-sectional study was conducted in the pediatric daycare unit, Hospital Universiti Sains Malaysia to determine the prevalence of craniofacial deformities (CFD) and the association between these deformities and different clinical presentations among thalassemia patients. Patients were classified as either craniofacial deformity positive (CFD+) or craniofacial deformity negative (CFD-) by two examiners based on the presence or absence of deformity of the cheeks, frontal and/or maxillary bones. Fifteen clinical parameters were compared between the groups. Nineteen out of 43 patients (44.2%; confidence interval, 30.2-58.2%) had craniofacial deformities (CFD+). Both groups were comparable among the clinical parameters studied. Patients in the CFD+ group did not start their blood transfusions significantly earlier than the CFD- group (p = 0.50) and had a nonsignificantly lower mean pretransfusion hemoglobin level than the CFD- group (p = 0.71). Patients receiving regular monthly blood transfusions had a nonsignificantly smaller percentage of CFD than those transfused less often (p = 0.495). CFD+ patients had a splenectomy at a nonsignificantly younger age than CFD- patients (p = 0.36). HbE/beta thalassemia patients were not significantly less likely to develop CFD than other varieties (p = 0.50) and males had a nonsignificantly higher percentage of CFD than females (p = 0.29). This study shows CFD in thalassemia patients are still prevalent but no significant associated factors were found; however, a nonsignificantly higher prevalence of CFD was observed in patients with signs of severe disease and less efficient treatment. PMID:22299450

  20. Caries management by risk assessment in a cleft and craniofacial center.

    PubMed

    Gaudilliere, Dyani; Thakur, Yogita; Ku, Manwai; Kaur, Ankita; Shrestha, Puja; Girod, Sabine C

    2014-11-01

    Patients with craniofacial anomalies have an increased incidence of dental caries. The prevention program "Caries Management By Risk Assessment" (CAMBRA) has been previously validated but has not yet been introduced at a widespread level in a medical setting, particularly for this high-risk population.In this cross-sectional study, we aimed to evaluate the feasibility of implementing CAMBRA during the medical visit at an institutional tertiary care center, which treats children with craniofacial anomalies. The study included 161 participants aged 1 to 18 years. Patients and parents received a personalized educational session, toothbrushing tutorial, and fluoride varnish application. We assessed the prevalence of dental caries, caries risk factors, and knowledge of oral hygiene in this patient population.The overall caries prevalence in this group was higher than average (57% compared with 42%, according to the Centers for Disease Control and Prevention). The most prevalent risk factors were developmental delay, deep pits/fissures, low socioeconomic status, orthodontic appliances, and carbohydrate snacks. The greatest predictors of dental caries were having 1 or more risk factors and having low socioeconomic status. In summary, children with craniofacial anomalies were at high risk for dental caries, with high rates of risk factors and low rates of preventive factors.Our findings revealed that basic oral hygiene standards are not being met in this high-risk population, highlighting the need for implementation of protocols such as CAMBRA. The results of this study can aid healthcare workers in craniofacial centers and children's hospitals to improve the understanding of oral hygiene and dental care of their patients. PMID:25377980

  1. Quantitative Comparison of Volume Maintenance between Inlay and Onlay Bone Grafts in the Craniofacial Skeleton

    PubMed Central

    Sugg, Kristoffer B.; Rosenthal, Andrew H.; Ozaki, Wayne; Buchman, Steven R.

    2015-01-01

    Background Nonvascularized autologous bone grafts are the criterion standard in craniofacial reconstruction for bony defects involving the craniofacial skeleton. The authors have previously demonstrated that graft microarchitecture is the major determinant of volume maintenance for both inlay and onlay bone grafts following transplantation. This study performs a head-to-head quantitative analysis of volume maintenance between inlay and onlay bone grafts in the craniofacial skeleton using a rabbit model to comparatively determine their resorptive kinetics over time. Methods Fifty rabbits were divided randomly into six experimental groups: 3-week inlay, 3-week onlay, 8-week inlay, 8-week onlay, 16-week inlay, and 16-week onlay. Cortical bone from the lateral mandible and both cortical and cancellous bone from the ilium were harvested from each animal and placed either in or on the cranium. All bone grafts underwent micro–computed tomographic analysis at 3, 8, and 16 weeks. Results All bone graft types in the inlay position increased their volume over time, with the greatest increase in endochondral cancellous bone. All bone graft types in the onlay position decreased their volume over time, with the greatest decrease in endochondral cancellous bone. Inlay bone grafts demonstrated increased volume compared with onlay bone grafts of identical embryologic origin and microarchitecture at all time points (p < 0.05). Conclusions Inlay bone grafts, irrespective of their embryologic origin, consistently display less resorption over time compared with onlay bone grafts in the craniofacial skeleton. Both inlay and onlay bone grafts are driven by the local mechanical environment to recapitulate the recipient bed. PMID:23629083

  2. Craniofacial abnormalities in mice carrying a dominant interference mutation in type X collagen.

    PubMed

    Chung, K S; Jacenko, O; Boyle, P; Olsen, B R; Nishimura, I

    1997-04-01

    Type X collagen is a short, non-fibril forming collagen restricted to hypertrophic cartilage, and has been hypothesized to play a role in endochondral ossification. The purpose of the study was to investigate the consequences resulting from the interference of type X collagen function on the growth and development of the craniofacial skeleton through analysis of transgenic mice with a dominant interference mutation for type X collagen. The craniofacial tissues of 21-day-old transgenic mice were examined by: cephalometric and radiographic densitometry analyses, conventional histology, and immunohistochemistry using antibodies specific for either endogenous mouse type X collagen or the transgene product. Genotypically positive mutant mice showed moderate but statistically significant craniofacial skeletal abnormalities, including the underdevelopment of the chondrocranium and mandible, but no cleft palate. Mean radiographic optical densities of the mutant condylar cartilage and the subchondylar areas were 32% less than the corresponding areas of normal mandibles, while mean radiographic optical density measured at the incisor tooth point remained constant. Histologically, transgene-positive mice revealed compressed hypertrophic cartilage zones and reduced trabeculae in both the mandibular condyle and the synchondroses of the chondrocranium. In the normal condyle, mouse type X collagen was localized by the monospecific antibody against a synthetic rat type X collagen NC1 peptide throughout the hypertrophic cartilage layer; in the mutant condyle, immunoreactivity to endogenous type X collagen was only seen sporadically. The truncated type X collagen transgene product, identified with the monoclonal antibody against an epitope within the chick type X collagen NC2 domain, persisted in the lower hypertrophic cartilage layer and the primary spongiosa, rather than being removed by subsequent endochondral ossification. The data suggested that the expression of the chick type

  3. Mapping of Craniofacial Traits in Outbred Mice Identifies Major Developmental Genes Involved in Shape Determination

    PubMed Central

    Pallares, Luisa F.; Carbonetto, Peter; Gopalakrishnan, Shyam; Parker, Clarissa C.; Ackert-Bicknell, Cheryl L.; Palmer, Abraham A.; Tautz, Diethard

    2015-01-01

    The vertebrate cranium is a prime example of the high evolvability of complex traits. While evidence of genes and developmental pathways underlying craniofacial shape determination is accumulating, we are still far from understanding how such variation at the genetic level is translated into craniofacial shape variation. Here we used 3D geometric morphometrics to map genes involved in shape determination in a population of outbred mice (Carworth Farms White, or CFW). We defined shape traits via principal component analysis of 3D skull and mandible measurements. We mapped genetic loci associated with shape traits at ~80,000 candidate single nucleotide polymorphisms in ~700 male mice. We found that craniofacial shape and size are highly heritable, polygenic traits. Despite the polygenic nature of the traits, we identified 17 loci that explain variation in skull shape, and 8 loci associated with variation in mandible shape. Together, the associated variants account for 11.4% of skull and 4.4% of mandible shape variation, however, the total additive genetic variance associated with phenotypic variation was estimated in ~45%. Candidate genes within the associated loci have known roles in craniofacial development; this includes 6 transcription factors and several regulators of bone developmental pathways. One gene, Mn1, has an unusually large effect on shape variation in our study. A knockout of this gene was previously shown to affect negatively the development of membranous bones of the cranial skeleton, and evolutionary analysis shows that the gene has arisen at the base of the bony vertebrates (Eutelostomi), where the ossified head first appeared. Therefore, Mn1 emerges as a key gene for both skull formation and within-population shape variation. Our study shows that it is possible to identify important developmental genes through genome-wide mapping of high-dimensional shape features in an outbred population. PMID:26523602

  4. Surgical Classification of the Mandibular Deformity in Craniofacial Microsomia Using 3-Dimensional Computed Tomography

    PubMed Central

    Swanson, Jordan W.; Mitchell, Brianne T.; Wink, Jason A.; Taylor, Jesse A.

    2016-01-01

    Background: Grading systems of the mandibular deformity in craniofacial microsomia (CFM) based on conventional radiographs have shown low interrater reproducibility among craniofacial surgeons. We sought to design and validate a classification based on 3-dimensional CT (3dCT) that correlates features of the deformity with surgical treatment. Methods: CFM mandibular deformities were classified as normal (T0), mild (hypoplastic, likely treated with orthodontics or orthognathic surgery; T1), moderate (vertically deficient ramus, likely treated with distraction osteogenesis; T2), or severe (ramus rudimentary or absent, with either adequate or inadequate mandibular body bone stock; T3 and T4, likely treated with costochondral graft or free fibular flap, respectively). The 3dCT face scans of CFM patients were randomized and then classified by craniofacial surgeons. Pairwise agreement and Fleiss' κ were used to assess interrater reliability. Results: The 3dCT images of 43 patients with CFM (aged 0.1–15.8 years) were reviewed by 15 craniofacial surgeons, representing an average 15.2 years of experience. Reviewers demonstrated fair interrater reliability with average pairwise agreement of 50.4 ± 9.9% (Fleiss' κ = 0.34). This represents significant improvement over the Pruzansky–Kaban classification (pairwise agreement, 39.2%; P = 0.0033.) Reviewers demonstrated substantial interrater reliability with average pairwise agreement of 83.0 ± 7.6% (κ = 0.64) distinguishing deformities requiring graft or flap reconstruction (T3 and T4) from others. Conclusion: The proposed classification, designed for the era of 3dCT, shows improved consensus with respect to stratifying the severity of mandibular deformity and type of operative management. PMID:27104097

  5. Genomic factors that shape craniofacial outcome and neural crest vulnerability in FASD

    PubMed Central

    Smith, Susan M.; Garic, Ana; Berres, Mark E.; Flentke, George R.

    2014-01-01

    Prenatal alcohol exposure (PAE) causes distinctive facial characteristics in some pregnancies and not others; genetic factors may contribute to this differential vulnerability. Ethanol disrupts multiple events of neural crest development, including induction, survival, migration, and differentiation. Animal models and genomic approaches have substantially advanced our understanding of the mechanisms underlying these facial changes. PAE during gastrulation produces craniofacial changes corresponding with human fetal alcohol syndrome. These result because PAE reduces prechordal plate extension and suppresses sonic hedgehog, leading to holoprosencephaly and malpositioned facial primordia. Haploinsufficiency in sonic hedgehog signaling increases vulnerability to facial deficits and may influence some PAE pregnancies. In contrast, PAE during early neurogenesis produces facial hypoplasia, preceded by neural crest reductions due to significant apoptosis. Factors mediating this apoptosis include intracellular calcium mobilization, elevated reactive oxygen species, and loss of trophic support from β-catenin/calcium, sonic hedgehog, and mTOR signaling. Genome-wide SNP analysis links PDGFRA with facial outcomes in human PAE. Multiple genomic-level comparisons of ethanol-sensitive and – resistant early embryos, in both mouse and chick, independently identify common candidate genes that may potentially modify craniofacial vulnerability, including ribosomal proteins, proteosome, RNA splicing, and focal adhesion. In summary, research using animal models with genome-level differences in ethanol vulnerability, as well as targeted loss-and gain-of-function mutants, has clarified the mechanisms mediating craniofacial change in PAE. The findings additionally suggest that craniofacial deficits may represent a gene–ethanol interaction for some affected individuals. Genetic-level changes may prime individuals toward greater sensitivity or resistance to ethanol’s neurotoxicity

  6. Pdgfra protects against ethanol-induced craniofacial defects in a zebrafish model of FASD.

    PubMed

    McCarthy, Neil; Wetherill, Leah; Lovely, C Ben; Swartz, Mary E; Foroud, Tatiana M; Eberhart, Johann K

    2013-08-01

    Human birth defects are highly variable and this phenotypic variability can be influenced by both the environment and genetics. However, the synergistic interactions between these two variables are not well understood. Fetal alcohol spectrum disorders (FASD) is the umbrella term used to describe the wide range of deleterious outcomes following prenatal alcohol exposure. Although FASD are caused by prenatal ethanol exposure, FASD are thought to be genetically modulated, although the genes regulating sensitivity to ethanol teratogenesis are largely unknown. To identify potential ethanol-sensitive genes, we tested five known craniofacial mutants for ethanol sensitivity: cyp26b1, gata3, pdgfra, smad5 and smoothened. We found that only platelet-derived growth factor receptor alpha (pdgfra) interacted with ethanol during zebrafish craniofacial development. Analysis of the PDGF family in a human FASD genome-wide dataset links PDGFRA to craniofacial phenotypes in FASD, prompting a mechanistic understanding of this interaction. In zebrafish, untreated pdgfra mutants have cleft palate due to defective neural crest cell migration, whereas pdgfra heterozygotes develop normally. Ethanol-exposed pdgfra mutants have profound craniofacial defects that include the loss of the palatal skeleton and hypoplasia of the pharyngeal skeleton. Furthermore, ethanol treatment revealed latent haploinsufficiency, causing palatal defects in ∼62% of pdgfra heterozygotes. Neural crest apoptosis partially underlies these ethanol-induced defects in pdgfra mutants, demonstrating a protective role for Pdgfra. This protective role is mediated by the PI3K/mTOR pathway. Collectively, our results suggest a model where combined genetic and environmental inhibition of PI3K/mTOR signaling leads to variability within FASD. PMID:23861062

  7. Pdgfra protects against ethanol-induced craniofacial defects in a zebrafish model of FASD

    PubMed Central

    McCarthy, Neil; Wetherill, Leah; Lovely, C. Ben; Swartz, Mary E.; Foroud, Tatiana M.; Eberhart, Johann K.

    2013-01-01

    Human birth defects are highly variable and this phenotypic variability can be influenced by both the environment and genetics. However, the synergistic interactions between these two variables are not well understood. Fetal alcohol spectrum disorders (FASD) is the umbrella term used to describe the wide range of deleterious outcomes following prenatal alcohol exposure. Although FASD are caused by prenatal ethanol exposure, FASD are thought to be genetically modulated, although the genes regulating sensitivity to ethanol teratogenesis are largely unknown. To identify potential ethanol-sensitive genes, we tested five known craniofacial mutants for ethanol sensitivity: cyp26b1, gata3, pdgfra, smad5 and smoothened. We found that only platelet-derived growth factor receptor alpha (pdgfra) interacted with ethanol during zebrafish craniofacial development. Analysis of the PDGF family in a human FASD genome-wide dataset links PDGFRA to craniofacial phenotypes in FASD, prompting a mechanistic understanding of this interaction. In zebrafish, untreated pdgfra mutants have cleft palate due to defective neural crest cell migration, whereas pdgfra heterozygotes develop normally. Ethanol-exposed pdgfra mutants have profound craniofacial defects that include the loss of the palatal skeleton and hypoplasia of the pharyngeal skeleton. Furthermore, ethanol treatment revealed latent haploinsufficiency, causing palatal defects in ∼62% of pdgfra heterozygotes. Neural crest apoptosis partially underlies these ethanol-induced defects in pdgfra mutants, demonstrating a protective role for Pdgfra. This protective role is mediated by the PI3K/mTOR pathway. Collectively, our results suggest a model where combined genetic and environmental inhibition of PI3K/mTOR signaling leads to variability within FASD. PMID:23861062

  8. Genomic factors that shape craniofacial outcome and neural crest vulnerability in FASD.

    PubMed

    Smith, Susan M; Garic, Ana; Berres, Mark E; Flentke, George R

    2014-01-01

    Prenatal alcohol exposure (PAE) causes distinctive facial characteristics in some pregnancies and not others; genetic factors may contribute to this differential vulnerability. Ethanol disrupts multiple events of neural crest development, including induction, survival, migration, and differentiation. Animal models and genomic approaches have substantially advanced our understanding of the mechanisms underlying these facial changes. PAE during gastrulation produces craniofacial changes corresponding with human fetal alcohol syndrome. These result because PAE reduces prechordal plate extension and suppresses sonic hedgehog, leading to holoprosencephaly and malpositioned facial primordia. Haploinsufficiency in sonic hedgehog signaling increases vulnerability to facial deficits and may influence some PAE pregnancies. In contrast, PAE during early neurogenesis produces facial hypoplasia, preceded by neural crest reductions due to significant apoptosis. Factors mediating this apoptosis include intracellular calcium mobilization, elevated reactive oxygen species, and loss of trophic support from β-catenin/calcium, sonic hedgehog, and mTOR signaling. Genome-wide SNP analysis links PDGFRA with facial outcomes in human PAE. Multiple genomic-level comparisons of ethanol-sensitive and - resistant early embryos, in both mouse and chick, independently identify common candidate genes that may potentially modify craniofacial vulnerability, including ribosomal proteins, proteosome, RNA splicing, and focal adhesion. In summary, research using animal models with genome-level differences in ethanol vulnerability, as well as targeted loss-and gain-of-function mutants, has clarified the mechanisms mediating craniofacial change in PAE. The findings additionally suggest that craniofacial deficits may represent a gene-ethanol interaction for some affected individuals. Genetic-level changes may prime individuals toward greater sensitivity or resistance to ethanol's neurotoxicity. PMID

  9. Cichlid fishes as a model to understand normal and clinical craniofacial variation.

    PubMed

    Powder, Kara E; Albertson, R Craig

    2016-07-15

    We have made great strides towards understanding the etiology of craniofacial disorders, especially for 'simple' Mendelian traits. However, the facial skeleton is a complex trait, and the full spectrum of genetic, developmental, and environmental factors that contribute to its final geometry remain unresolved. Forward genetic screens are constrained with respect to complex traits due to the types of genes and alleles commonly identified, developmental pleiotropy, and limited information about the impact of environmental interactions. Here, we discuss how studies in an evolutionary model - African cichlid fishes - can complement traditional approaches to understand the genetic and developmental origins of complex shape. Cichlids exhibit an unparalleled range of natural craniofacial morphologies that model normal human variation, and in certain instances mimic human facial dysmorphologies. Moreover, the evolutionary history and genomic architecture of cichlids make them an ideal system to identify the genetic basis of these phenotypes via quantitative trait loci (QTL) mapping and population genomics. Given the molecular conservation of developmental genes and pathways, insights from cichlids are applicable to human facial variation and disease. We review recent work in this system, which has identified lbh as a novel regulator of neural crest cell migration, determined the Wnt and Hedgehog pathways mediate species-specific bone morphologies, and examined how plastic responses to diet modulate adult facial shapes. These studies have not only revealed new roles for existing pathways in craniofacial development, but have identified new genes and mechanisms involved in shaping the craniofacial skeleton. In all, we suggest that combining work in traditional laboratory and evolutionary models offers significant potential to provide a more complete and comprehensive picture of the myriad factors that are involved in the development of complex traits. PMID:26719128

  10. Reconstruction of craniofacial image using rational cubic Ball interpolant and soft computing technique

    NASA Astrophysics Data System (ADS)

    Majeed, Abdul; Piah, Abd Rahni Mt

    2015-10-01

    Spline has been used extensively in engineering design and modelling for representation, analysis and manufacturing purposes. This paper presents an application of spline methods in bio-medical modelling. We reconstruct craniofacial fractured skull bone images using rational cubic Ball interpolant with two free parameters. The free parameters are optimized with the help of genetic algorithm. Our emphasis is placed on the accuracy and smoothness of the reconstructed images.

  11. High Frequency rTMS over the Left Parietal Lobule Increases Non-Word Reading Accuracy

    ERIC Educational Resources Information Center

    Costanzo, Floriana; Menghini, Deny; Caltagirone, Carlo; Oliveri, Massimiliano; Vicari, Stefano

    2012-01-01

    Increasing evidence in the literature supports the usefulness of Transcranial Magnetic Stimulation (TMS) in studying reading processes. Two brain regions are primarily involved in phonological decoding: the left superior temporal gyrus (STG), which is associated with the auditory representation of spoken words, and the left inferior parietal lobe…

  12. Cortical infarction of the right parietal lobe and neurogenic heart disease: A report of three cases.

    PubMed

    Li, Fang; Jia, Yujie

    2012-04-25

    Three male patients were diagnosed with new cortical infarctions of the right parietal lobe on the basis of head magnetic resonance imaging; high-intensity signals indicating lesions in the right parietal lobe were noted on diffusion-weighted images at admission. Two of them presented with left hand weakness, and one exhibited left upper limb weakness. Treatment for improving blood supply to the brain was administered. One patient died suddenly because of ventricular fibrillation 3 days after admission. The other two patients had increased troponin levels and abnormal electrocardiograms, and were diagnosed with acute myocardial infarction half a month after admission. When lesions exist in field 7 of the parietal cortex (resulting in paralysis of the contralateral hand), the sympathetic center of the posterior lateral nucleus of the hypothalamus demonstrates compensatory excitement, which easily causes tachyarrhythmia and sudden death. Our experimental findings indicate that close electrocardiograph monitoring and cerebral infarction treatment should be standard procedures to predict and help prevent heart disease in patients with cerebral infarction in the right parietal lobe and left upper limb weakness as the main complaint. PMID:25722680

  13. The Neuroanatomical Basis for Posterior Superior Parietal Lobule Control Lateralization of Visuospatial Attention.

    PubMed

    Wu, Yan; Wang, Jiaojian; Zhang, Yun; Zheng, Dingchen; Zhang, Jinfeng; Rong, Menglin; Wu, Huawang; Wang, Yinyan; Zhou, Ke; Jiang, Tianzi

    2016-01-01

    The right hemispheric dominance in visuospatial attention in human brain has been well established. Converging evidence has documented that ventral posterior parietal cortex (PPC) plays an important role in visuospatial attention. The role of dorsal PPC subregions, especially the superior parietal lobule (SPL) in visuospatial attention is still controversial. In the current study, we used repetitive transcranial magnetic stimulation (rTMS) and diffusion magnetic resonance imaging (MRI) techniques to test the role of posterior SPL in visuospatial attention and to investigate the potential neuroanatomical basis for right hemisphere dominance in visuospatial function. Transcranial magnetic stimulation (TMS) results unraveled that the right SPL predominantly mediated visuospatial attention compared to left SPL. Anatomical connections analyses between the posterior SPL and the intrahemispheric frontal subregions and the contralateral PPC revealed that right posterior SPL has stronger anatomical connections with the ipsilateral middle frontal gyrus (MFG), with the ipsilateral inferior frontal gyrus (IFG), and with contralateral PPC than that of the left posterior SPL. Furthermore, these asymmetric anatomical connections were closely related to behavioral performances. Our findings indicate that SPL plays a crucial role in regulating visuospatial attention, and dominance of visuospatial attention results from unbalanced interactions between the bilateral fronto-parietal networks and the interhemispheric parietal network. PMID:27047351

  14. The Neuroanatomical Basis for Posterior Superior Parietal Lobule Control Lateralization of Visuospatial Attention

    PubMed Central

    Wu, Yan; Wang, Jiaojian; Zhang, Yun; Zheng, Dingchen; Zhang, Jinfeng; Rong, Menglin; Wu, Huawang; Wang, Yinyan; Zhou, Ke; Jiang, Tianzi

    2016-01-01

    The right hemispheric dominance in visuospatial attention in human brain has been well established. Converging evidence has documented that ventral posterior parietal cortex (PPC) plays an important role in visuospatial attention. The role of dorsal PPC subregions, especially the superior parietal lobule (SPL) in visuospatial attention is still controversial. In the current study, we used repetitive transcranial magnetic stimulation (rTMS) and diffusion magnetic resonance imaging (MRI) techniques to test the role of posterior SPL in visuospatial attention and to investigate the potential neuroanatomical basis for right hemisphere dominance in visuospatial function. Transcranial magnetic stimulation (TMS) results unraveled that the right SPL predominantly mediated visuospatial attention compared to left SPL. Anatomical connections analyses between the posterior SPL and the intrahemispheric frontal subregions and the contralateral PPC revealed that right posterior SPL has stronger anatomical connections with the ipsilateral middle frontal gyrus (MFG), with the ipsilateral inferior frontal gyrus (IFG), and with contralateral PPC than that of the left posterior SPL. Furthermore, these asymmetric anatomical connections were closely related to behavioral performances. Our findings indicate that SPL plays a crucial role in regulating visuospatial attention, and dominance of visuospatial attention results from unbalanced interactions between the bilateral fronto-parietal networks and the interhemispheric parietal network. PMID:27047351

  15. Temporo-Parietal Junction Activity in Theory-of-Mind Tasks: Falseness, Beliefs, or Attention

    ERIC Educational Resources Information Center

    Aichhorn, Markus; Perner, Josef; Weiss, Benjamin; Kronbichler, Martin; Staffen, Wolfgang; Ladurner, Gunther

    2009-01-01

    By combining the false belief (FB) and photo (PH) vignettes to identify theory-of-mind areas with the false sign (FS) vignettes, we re-establish the functional asymmetry between the left and right temporo-parietal junction (TPJ). The right TPJ (TPJ-R) is specially sensitive to processing belief information, whereas the left TPJ (TPJ-L) is equally…

  16. Lateralization of Egocentric and Allocentric Spatial Processing after Parietal Brain Lesions

    ERIC Educational Resources Information Center

    Iachini, Tina; Ruggiero, Gennaro; Conson, Massimiliano; Trojano, Luigi

    2009-01-01

    The purpose of this paper was to verify whether left and right parietal brain lesions may selectively impair egocentric and allocentric processing of spatial information in near/far spaces. Two Right-Brain-Damaged (RBD), 2 Left-Brain-Damaged (LBD) patients (not affected by neglect or language disturbances) and eight normal controls were submitted…

  17. Sex Differences in Parietal Lobe Morphology: Relationship to Mental Rotation Performance

    ERIC Educational Resources Information Center

    Koscik, Tim; O'Leary, Dan; Moser, David J.; Andreasen, Nancy C.; Nopoulos, Peg

    2009-01-01

    Structural magnetic resonance imaging (MRI) studies of the human brain have reported evidence for sexual dimorphism. In addition to sex differences in overall cerebral volume, differences in the proportion of gray matter (GM) to white matter (WM) volume have been observed, particularly in the parietal lobe. To our knowledge there have been no…

  18. Contrasting Effects of Vocabulary Knowledge on Temporal and Parietal Brain Structure across Lifespan

    ERIC Educational Resources Information Center

    Richardson, Fiona M.; Thomas, Michael S. C.; Filippi, Roberto; Harth, Helen; Price, Cathy J.

    2010-01-01

    Using behavioral, structural, and functional imaging techniques, we demonstrate contrasting effects of vocabulary knowledge on temporal and parietal brain structure in 47 healthy volunteers who ranged in age from 7 to 73 years. In the left posterior supramarginal gyrus, vocabulary knowledge was positively correlated with gray matter density in…

  19. Parietal Lobe Volume Deficits in Adolescents with Schizophrenia and Adolescents with Cannabis Use Disorders

    ERIC Educational Resources Information Center

    Kumra, Sanjiv; Robinson, Paul; Tambyraja, Rabindra; Jensen, Daniel; Schimunek, Caroline; Houri, Alaa; Reis, Tiffany; Lim, Kelvin

    2012-01-01

    Objective: In early-onset schizophrenia (EOS), the earliest structural brain volumetric abnormalities appear in the parietal cortices. Early exposure to cannabis may represent an environmental risk factor for developing schizophrenia. This study characterized cerebral cortical gray matter structure in adolescents in regions of interest (ROIs) that…

  20. Role of Right Posterior Parietal Cortex in Maintaining Attention to Spatial Locations over Time

    ERIC Educational Resources Information Center

    Malhotra, Paresh; Coulthard, Elizabeth J.; Husain, Masud

    2009-01-01

    Recent models of human posterior parietal cortex (PPC) have variously emphasized its role in spatial perception, visuomotor control or directing attention. However, neuroimaging and lesion studies also suggest that the right PPC might play a special role in maintaining an alert state. Previously, assessments of right-hemisphere patients with…

  1. Transfer of Cognitive Training across Magnitude Dimensions Achieved with Concurrent Brain Stimulation of the Parietal Lobe

    PubMed Central

    Gessaroli, Erica; Hithersay, Rosalyn; Mitolo, Micaela; Didino, Daniele; Kanai, Ryota; Cohen Kadosh, Roi; Walsh, Vincent

    2013-01-01

    Improvement in performance following cognitive training is known to be further enhanced when coupled with brain stimulation. Here we ask whether training-induced changes can be maintained long term and, crucially, whether they can extend to other related but untrained skills. We trained overall 40 human participants on a simple and well established paradigm assessing the ability to discriminate numerosity–or the number of items in a set–which is thought to rely on an “approximate number sense” (ANS) associated with parietal lobes. We coupled training with parietal stimulation in the form of transcranial random noise stimulation (tRNS), a noninvasive technique that modulates neural activity. This yielded significantly better and longer lasting improvement (up to 16 weeks post-training) of the precision of the ANS compared with cognitive training in absence of stimulation, stimulation in absence of cognitive training, and cognitive training coupled to stimulation to a control site (motor areas). Critically, only ANS improvement induced by parietal tRNS + Training transferred to proficiency in other parietal lobe-based quantity judgment, i.e., time and space discrimination, but not to quantity-unrelated tasks measuring attention, executive functions, and visual pattern recognition. These results indicate that coupling intensive cognitive training with tRNS to critical brain regions resulted not only in the greatest and longer lasting improvement of numerosity discrimination, but importantly in this enhancement being transferable when trained and untrained abilities are carefully chosen to share common cognitive and neuronal components. PMID:24027289

  2. The Neural Dynamics of Fronto-Parietal Networks in Childhood Revealed using Magnetoencephalography.

    PubMed

    Astle, Duncan E; Luckhoo, Henry; Woolrich, Mark; Kuo, Bo-Cheng; Nobre, Anna C; Scerif, Gaia

    2015-10-01

    Our ability to hold information in mind is limited, requires a high degree of cognitive control, and is necessary for many subsequent cognitive processes. Children, in particular, are highly variable in how, trial-by-trial, they manage to recruit cognitive control in service of memory. Fronto-parietal networks, typically recruited under conditions where this cognitive control is needed, undergo protracted development. We explored, for the first time, whether dynamic changes in fronto-parietal activity could account for children's variability in tests of visual short-term memory (VSTM). We recorded oscillatory brain activity using magnetoencephalography (MEG) as 9- to 12-year-old children and adults performed a VSTM task. We combined temporal independent component analysis (ICA) with general linear modeling to test whether the strength of fronto-parietal activity correlated with VSTM performance on a trial-by-trial basis. In children, but not adults, slow frequency theta (4-7 Hz) activity within a right lateralized fronto-parietal network in anticipation of the memoranda predicted the accuracy with which those memory items were subsequently retrieved. These findings suggest that inconsistent use of anticipatory control mechanism contributes significantly to trial-to-trial variability in VSTM maintenance performance. PMID:25410426

  3. Human Topological Task Adapted for Rats: Spatial Information Processes of the Parietal Cortex

    PubMed Central

    Goodrich-Hunsaker, Naomi J.; Howard, Brian P.; Hunsaker, Michael R.; Kesner, Raymond P.

    2008-01-01

    Human research has shown that lesions of the parietal cortex disrupt spatial information processing, specifically topological information. Similar findings have been found in nonhumans. It has been difficult to determine homologies between human and non-human mnemonic mechanisms for spatial information processing because methodologies and neuropathology differ. The first objective of the present study was to adapt a previously established human task for rats. The second objective was to better characterize the role of parietal cortex (PC) and dorsal hippocampus (dHPC) for topological spatial information processing. Rats had to distinguish whether a ball inside a ring or a ball outside a ring was the correct, rewarded object. After rats reached criterion on the task (>95%) they were randomly assigned to a lesion group (control, PC, dHPC). Animals were then re-tested. Post-surgery data show that controls were 94% correct on average, dHPC rats were 89% correct on average, and PC rats were 56% correct on average. The results from the present study suggest that the parietal cortex, but not the dHPC processes topological spatial information. The present data are the first to support comparable topological spatial information processes of the parietal cortex in humans and rats. PMID:18571941

  4. The precision of value-based choices depends causally on fronto-parietal phase coupling

    PubMed Central

    Polanía, Rafael; Moisa, Marius; Opitz, Alexander; Grueschow, Marcus; Ruff, Christian C.

    2015-01-01

    Which meal would you like today, chicken or pasta? For such value-based choices, organisms must flexibly integrate various types of sensory information about internal states and the environment to transform them into actions. Recent accounts suggest that these choice-relevant processes are mediated by information transfer between functionally specialized but spatially distributed brain regions in parietal and prefrontal cortex; however, it remains unclear whether such fronto-parietal communication is causally involved in guiding value-based choices. We find that transcranially inducing oscillatory desynchronization between the frontopolar and -parietal cortex leads to more inaccurate choices between food rewards while leaving closely matched perceptual decisions unaffected. Computational modelling shows that this exogenous manipulation leads to imprecise value assignments to the choice alternatives. Thus, our study demonstrates that accurate value-based decisions critically involve coherent rhythmic information transfer between fronto-parietal brain areas and establishes an experimental approach to non-invasively manipulate the precision of value-based choices in humans. PMID:26290482

  5. Attentional Demands Predict Short-Term Memory Load Response in Posterior Parietal Cortex

    ERIC Educational Resources Information Center

    Magen, Hagit; Emmanouil, Tatiana-Aloi; McMains, Stephanie A.; Kastner, Sabine; Treisman, Anne

    2009-01-01

    Limits to the capacity of visual short-term memory (VSTM) indicate a maximum storage of only 3 or 4 items. Recently, it has been suggested that activity in a specific part of the brain, the posterior parietal cortex (PPC), is correlated with behavioral estimates of VSTM capacity and might reflect a capacity-limited store. In three experiments that…

  6. The precision of value-based choices depends causally on fronto-parietal phase coupling.

    PubMed

    Polanía, Rafael; Moisa, Marius; Opitz, Alexander; Grueschow, Marcus; Ruff, Christian C

    2015-01-01

    Which meal would you like today, chicken or pasta? For such value-based choices, organisms must flexibly integrate various types of sensory information about internal states and the environment to transform them into actions. Recent accounts suggest that these choice-relevant processes are mediated by information transfer between functionally specialized but spatially distributed brain regions in parietal and prefrontal cortex; however, it remains unclear whether such fronto-parietal communication is causally involved in guiding value-based choices. We find that transcranially inducing oscillatory desynchronization between the frontopolar and -parietal cortex leads to more inaccurate choices between food rewards while leaving closely matched perceptual decisions unaffected. Computational modelling shows that this exogenous manipulation leads to imprecise value assignments to the choice alternatives. Thus, our study demonstrates that accurate value-based decisions critically involve coherent rhythmic information transfer between fronto-parietal brain areas and establishes an experimental approach to non-invasively manipulate the precision of value-based choices in humans. PMID:26290482

  7. Lower neuronal variability in the monkey dorsolateral prefrontal than posterior parietal cortex.

    PubMed

    Qi, Xue-Lian; Constantinidis, Christos

    2015-10-01

    The dorsolateral prefrontal and posterior parietal cortex are two brain areas involved in cognitive functions such as spatial attention and working memory. When tested with identical tasks, only subtle differences in firing rate are present between neurons recorded in the two areas. In this article we report that major differences in neuronal variability characterize the two areas during working memory. The Fano factors of spike counts in dorsolateral prefrontal neurons were consistently lower than those of the posterior parietal cortex across a range of tasks, epochs, and conditions in the same monkeys. Variability differences were observed despite minor differences in firing rates between the two areas in the tasks tested and higher overall firing rate in the prefrontal than in the posterior parietal sample. Other measures of neuronal discharge variability, such as the coefficient of variation of the interspike interval, displayed the same pattern of lower prefrontal variability. Fano factor values were negatively correlated with performance in the working memory task, suggesting that higher neuronal variability was associated with diminished task performance. The results indicate that information involving remembered stimuli is more reliably represented in the prefrontal than the posterior parietal cortex based on the variability of neuronal responses, and suggest functional differentiation between the two areas beyond differences in firing rate. PMID:26269556

  8. Reconsidering harbingers of dementia: progression of parietal lobe white matter hyperintensities predicts Alzheimer's disease incidence.

    PubMed

    Brickman, Adam M; Zahodne, Laura B; Guzman, Vanessa A; Narkhede, Atul; Meier, Irene B; Griffith, Erica Y; Provenzano, Frank A; Schupf, Nicole; Manly, Jennifer J; Stern, Yaakov; Luchsinger, José A; Mayeux, Richard

    2015-01-01

    Accumulating evidence implicates small vessel cerebrovascular disease, visualized as white matter hyperintensities (WMH) on T2-weighted magnetic resonance imaging, in the pathogenesis and diagnosis of Alzheimer's disease (AD). Cross-sectional volumetric measures of WMH, particularly in the parietal lobes, are associated with increased risk of AD. In the present study, we sought to determine whether the longitudinal regional progression of WMH predicts incident AD above-and-beyond traditional radiological markers of neurodegeneration (i.e., hippocampal atrophy and cortical thickness). Three hundred three nondemented older adults (mean age = 79.24 ± 5.29) received high-resolution magnetic resonance imaging at baseline and then again 4.6 years (standard deviation = 1.01) later. Over the follow-up interval 26 participants progressed to AD. Using structural equation modeling, we calculated latent difference scores of parietal and nonparietal WMH, hippocampus volumes, and cortical thickness values in AD-related regions. Within the structural equation modeling framework, we determined whether baseline or change scores or both predicted AD conversion, while controlling for several time-invariant relevant variables. Smaller baseline hippocampus volume, change in hippocampus volume (i.e., atrophy), higher baseline parietal lobe WMH, and increasing parietal lobe WMH volume but not WMH in other regions or measures of cortical thickness, independently predicted progression to AD. The findings provide strong evidence that regionally accumulating WMH predict AD onset in addition to hallmark neurodegenerative changes typically associated with AD. PMID:25155654

  9. Prehension Movements in a Patient (AC) with Posterior Parietal Cortex Damage and Posterior Callosal Section

    ERIC Educational Resources Information Center

    Frak, Victor; Paulignan, Yves; Jeannerod, Marc; Michel, Francois; Cohen, Henri

    2006-01-01

    Prehension movements of the right hand were recorded in a right-handed man (AC), with an injury to the left posterior parietal cortex (PPC) and with a section of the left half of the splenium. The kinematic analysis of AC's grasping movements in direct and perturbed conditions was compared to that of five control subjects. A novel effect in…

  10. Altered network properties of the fronto-parietal network and the thalamus in impaired consciousness☆

    PubMed Central

    Crone, Julia Sophia; Soddu, Andrea; Höller, Yvonne; Vanhaudenhuyse, Audrey; Schurz, Matthias; Bergmann, Jürgen; Schmid, Elisabeth; Trinka, Eugen; Laureys, Steven; Kronbichler, Martin

    2013-01-01

    Recovery of consciousness has been associated with connectivity in the frontal cortex and parietal regions modulated by the thalamus. To examine this model and to relate alterations to deficits in cognitive functioning and conscious processing, we investigated topological network properties in patients with chronic disorders of consciousness recovered from coma. Resting state fMRI data of 34 patients with unresponsive wakefulness syndrome and 25 in minimally conscious state were compared to 28 healthy controls. We investigated global and local network characteristics. Additionally, behavioral measures were correlated with the local metrics of 28 regions within the fronto-parietal network and the thalamus. In chronic disorders of consciousness, modularity at the global level was reduced suggesting a disturbance in the optimal balance between segregation and integration. Moreover, network properties were altered in several regions which are associated with conscious processing (particularly, in medial parietal, and frontal regions, as well as in the thalamus). Between minimally conscious and unconscious patients the local efficiency of medial parietal regions differed. Alterations in the thalamus were particularly evident in non-conscious patients. Most of the regions affected in patients with impaired consciousness belong to the so-called ‘rich club’ of highly interconnected central nodes. Disturbances in their topological characteristics have severe impact on information integration and are reflected in deficits in cognitive functioning probably leading to a total breakdown of consciousness. PMID:24455474

  11. Assembly and use of new task rules in fronto-parietal cortex.

    PubMed

    Dumontheil, Iroise; Thompson, Russell; Duncan, John

    2011-01-01

    Severe capacity limits, closely associated with fluid intelligence, arise in learning and use of new task rules. We used fMRI to investigate these limits in a series of multirule tasks involving different stimuli, rules, and response keys. Data were analyzed both during presentation of instructions and during later task execution. Between tasks, we manipulated the number of rules specified in task instructions, and within tasks, we manipulated the number of rules operative in each trial block. Replicating previous results, rule failures were strongly predicted by fluid intelligence and increased with the number of operative rules. In fMRI data, analyses of the instruction period showed that the bilateral inferior frontal sulcus, intraparietal sulcus, and presupplementary motor area were phasically active with presentation of each new rule. In a broader range of frontal and parietal regions, baseline activity gradually increased as successive rules were instructed. During task performance, we observed contrasting fronto-parietal patterns of sustained (block-related) and transient (trial-related) activity. Block, but not trial, activity showed effects of task complexity. We suggest that, as a new task is learned, a fronto-parietal representation of relevant rules and facts is assembled for future control of behavior. Capacity limits in learning and executing new rules, and their association with fluid intelligence, may be mediated by this load-sensitive fronto-parietal network. PMID:20146600

  12. Auditory Spatial Coding Flexibly Recruits Anterior, but Not Posterior, Visuotopic Parietal Cortex.

    PubMed

    Michalka, Samantha W; Rosen, Maya L; Kong, Lingqiang; Shinn-Cunningham, Barbara G; Somers, David C

    2016-03-01

    Audition and vision both convey spatial information about the environment, but much less is known about mechanisms of auditory spatial cognition than visual spatial cognition. Human cortex contains >20 visuospatial map representations but no reported auditory spatial maps. The intraparietal sulcus (IPS) contains several of these visuospatial maps, which support visuospatial attention and short-term memory (STM). Neuroimaging studies also demonstrate that parietal cortex is activated during auditory spatial attention and working memory tasks, but prior work has not demonstrated that auditory activation occurs within visual spatial maps in parietal cortex. Here, we report both cognitive and anatomical distinctions in the auditory recruitment of visuotopically mapped regions within the superior parietal lobule. An auditory spatial STM task recruited anterior visuotopic maps (IPS2-4, SPL1), but an auditory temporal STM task with equivalent stimuli failed to drive these regions significantly. Behavioral and eye-tracking measures rule out task difficulty and eye movement explanations. Neither auditory task recruited posterior regions IPS0 or IPS1, which appear to be exclusively visual. These findings support the hypothesis of multisensory spatial processing in the anterior, but not posterior, superior parietal lobule and demonstrate that recruitment of these maps depends on auditory task demands. PMID:26656996

  13. The Role of the Parietal Lobe in Visual Extinction Studied with Transcranial Magnetic Stimulation

    ERIC Educational Resources Information Center

    Battelli, Lorella; Alvarez, George A.; Carlson, Thomas; Pascual-Leone, Alvaro

    2009-01-01

    Interhemispheric competition between homologous areas in the human brain is believed to be involved in a wide variety of human behaviors from motor activity to visual perception and particularly attention. For example, patients with lesions in the posterior parietal cortex are unable to selectively track objects in the contralesional side of…

  14. Auditory Spatial Coding Flexibly Recruits Anterior, but Not Posterior, Visuotopic Parietal Cortex

    PubMed Central

    Michalka, Samantha W.; Rosen, Maya L.; Kong, Lingqiang; Shinn-Cunningham, Barbara G.; Somers, David C.

    2016-01-01

    Audition and vision both convey spatial information about the environment, but much less is known about mechanisms of auditory spatial cognition than visual spatial cognition. Human cortex contains >20 visuospatial map representations but no reported auditory spatial maps. The intraparietal sulcus (IPS) contains several of these visuospatial maps, which support visuospatial attention and short-term memory (STM). Neuroimaging studies also demonstrate that parietal cortex is activated during auditory spatial attention and working memory tasks, but prior work has not demonstrated that auditory activation occurs within visual spatial maps in parietal cortex. Here, we report both cognitive and anatomical distinctions in the auditory recruitment of visuotopically mapped regions within the superior parietal lobule. An auditory spatial STM task recruited anterior visuotopic maps (IPS2–4, SPL1), but an auditory temporal STM task with equivalent stimuli failed to drive these regions significantly. Behavioral and eye-tracking measures rule out task difficulty and eye movement explanations. Neither auditory task recruited posterior regions IPS0 or IPS1, which appear to be exclusively visual. These findings support the hypothesis of multisensory spatial processing in the anterior, but not posterior, superior parietal lobule and demonstrate that recruitment of these maps depends on auditory task demands. PMID:26656996

  15. The Role of the Right Posterior Parietal Cortex in Temporal Order Judgment

    ERIC Educational Resources Information Center

    Woo, Sung-Ho; Kim, Ki-Hyun; Lee, Kyoung-Min

    2009-01-01

    Perceived order of two consecutive stimuli may not correspond to the order of their physical onsets. Such a disagreement presumably results from a difference in the speed of stimulus processing toward central decision mechanisms. Since previous evidence suggests that the right posterior parietal cortex (PPC) plays a role in modulating the…

  16. The role of parietal cortex in the formation of color and motion based concepts

    PubMed Central

    Cheadle, Samuel W.; Zeki, Semir

    2014-01-01

    Imaging evidence shows that separate subdivisions of parietal cortex, in and around the intraparietal sulcus (IPS), are engaged when stimuli are grouped according to color and to motion (Zeki and Stutters, 2013). Since grouping is an essential step in the formation of concepts, we wanted to learn whether parietal cortex is also engaged in the formation of concepts according to these two attributes. Using functional magnetic resonance imaging (fMRI), and choosing the recognition of concept-based color or motion stimuli as our paradigm, we found that there was strong concept-related activity in and around the IPS, a region whose homolog in the macaque monkey is known to receive direct but segregated anatomical inputs from V4 and V5. Parietal activity related to color concepts was juxtaposed but did not overlap with activity related to motion concepts, thus emphasizing the continuation of the segregation of color and motion into the conceptual system. Concurrent retinotopic mapping experiments showed that within the parietal cortex, concept-related activity increases within later stage IPS areas. PMID:25120447

  17. Protein kinase C-α attenuates cholinergically stimulated gastric acid secretion of rabbit parietal cells

    PubMed Central

    Fährmann, Michael; Kaufhold, Marc; Pfeiffer, Andreas F; Seidler, Ursula

    2003-01-01

    The phorbolester 12-O-tetradecanoyl phorbol-13-acetate (TPA), an activator of protein kinase C (PKC), inhibits cholinergic stimulation of gastric acid secretion. We observed that this effect strongly correlated with the inhibition of Ca2+/calmodulin-dependent protein kinase II (CaMKII) activity in rabbit parietal cells. The aim of this study was to specify the function of PKC-α in cholinergically stimulated H+ secretion. PKC-α represents the only calcium-dependent PKC isoenzyme that has been detected in rabbit parietal cells. Gö 6976, an inhibitor of calcium-dependent PKC, concentration-dependently antagonized the inhibitory effect of TPA, and, therefore, revealed the action of PKC-α on carbachol-induced acid secretion in rabbit parietal cells. TPA exerted no additive inhibition of carbachol-stimulated acid secretion if acid secretion was partially inhibited by the potent CaMKII inhibitor 1-[N,O-bis(5-isoquinolinsulfonyl)-N-methyl-L-tyrosyl]-4-phenyl-piperazine (KN-62). Since both kinase modulators, TPA and KN-62, affected no divergent signal transduction pathways in the parietal cell, an in vitro model has been used to study if PKC directly targets CaMKII. CaMKII purified from parietal cell-containing gastric mucosa of pig, was transphosphorylated by purified cPKC containing PKC-α up to 1.8 mol Pi per mol CaMKII in vitro. The autonomy site of CaMKII was not transphosphorylated by PKC. The phosphotransferase activity of the purified CaMKII was in vitro inhibited after transphosphorylation by PKC if calmodulin was absent during transphosphorylation. Attenuation of CaMKII activity by PKC showed strong similarity to the downregulation of CaMKII by basal autophosphorylation. Our results suggest that PKC-α and CaMKII are closely functionally linked in a cholinergically induced signalling pathway in rabbit parietal cells. We assume that in cholinergically stimulated parietal cells PKC-α transinhibits CaMKII activity, resulting in an attenuation of acid secretion

  18. Optic ataxia as a result of the breakdown of the global tuning fields of parietal neurones.

    PubMed

    Battaglia-Mayer, Alexandra; Caminiti, Roberto

    2002-02-01

    Optic ataxia is characterized by an impaired visual control of the direction of arm reaching to a visual target, accompanied by defective hand orientation and grip formation. In humans, optic ataxia is associated with lesions of the superior parietal lobule (SPL), which also affect visually guided saccades and other forms of eye-hand coordination. In the last 10 years, anatomical and physiological studies of the SPL have shed new light on the role of parietal cortex in the control of combined eye-hand movements to visual targets, and on the underlying distributed network which links parietal to frontal cortex. A main emerging functional feature of SPL neurones seems to be their capacity to combine, in a spatially congruent fashion, different directional eye- and hand-related information, that any coding scheme so far proposed, considers essential for the composition of motor commands for reaching. This integration occurs within the global tuning field of parietal neurones, is context-dependent and involves eye and hand information that shares the same directional properties. Depending on task demands, this integration of signals can result in the representation of different reference frames for coordinated eye-hand movements. The dynamic operations occurring within the global tuning fields might depend, at least in part, on the reciprocal sets of association connections linking the SPL and the premotor areas of the frontal lobe. From this picture, the SPL emerges as both a main source of visual input to the frontal cortex and a key structure for visuomotor integration based on re-entrant signalling and, therefore, as a crucial node in the visual control of movement. It is hypothesized that in parietal patients, the directional errors that characterize reaching are a consequence of the breakdown of the combination of directional eye and hand information within the global tuning fields of parietal neurones. In these patients, the spatial match among information about

  19. CT and MR Imaging in a Large Series of Patients with Craniofacial Fibrous Dysplasia

    PubMed Central

    Atalar, Mehmet Haydar; Salk, Ismail; Savas, Recep; Uysal, Ismail Onder; Egilmez, Hulusi

    2015-01-01

    Summary Background In this retrospective review of patients with craniofacial fibrous dysplasia (FD), the clinical and radiological findings of CT and MR scan were analyzed. Material/Methods The study material included 32 patients, at 9 to 68 years of age that were directed for differential diagnostics of several disorders in the head. We recorded CT and MRI data related to the lesion number, location, sidedness, appearance, and sex of the cases with craniofacial FD. Results Of 32 patients involved in this study, 17 had monostotic and 15 had polyostotic involvement pattern. Bones most commonly involved by monostotic involvement in females were, in descending order, mandibular, maxillary, and sphenoid bones, while the sphenoid bone was involved the most in males. Leontiasis ossea was observed in 2 patients. Sclerotic and mixed lesion types were more common in both females and males. In T1- and T2-weighted MRI sequences, hypointensity was more common compared to hyperintensity or heterogeneous intensity. The type of enhancement of lesions was found similar after contrast medium administration. Conclusions In the presence of craniofacial FD during CT or MRI imaging of the head, a detailed description of FD lesions may provide an important clinical benefit by increasing radiological experience during the diagnostics of this rare disorder. PMID:26000068

  20. Bioabsorbable plates and screws in pediatric craniofacial surgery: a review of 22 cases.

    PubMed

    Kumar, A V; Staffenberg, D A; Petronio, J A; Wood, R J

    1997-03-01

    The purpose of this study was to evaluate the application of bioabsorbable fixation devices in reconstructive craniofacial procedures in the pediatric population. We reviewed 22 cases in which bioabsorbable plates and screws were used in craniofacial surgery for reconstruction. The procedures were performed in a 7-month period. The patients ranged in age from 5 to 228 months at the time of surgery (mean, 76.7 months). The postoperative clinical follow-up ranged from 2 to 16 weeks. The fixation devices were evaluated with regards to satisfactory fixation at the time of procedure. The postoperative follow-up evaluated clinical wound healing, signs of infection or local inflammation, and visibility or palpability of plates through the skin. All patients except one showed satisfactory wound healing with no sign of infection or local inflammation. The plates provided satisfactory fixation and were not visible through the skin. Two patients had plates that were palpable at the 4-month follow-up period. One patient with repair of a blow-out fracture of the orbit with resorbable mesh had redness and swelling over the wound site 2 weeks postoperatively with resolution 4 weeks postoperatively. Our early experience suggests reabsorbable fixation is an attractive option in pediatric plastic and craniofacial surgery. With further experience, this technology may represent the standard of care in reconstruction of the infant calvarium. PMID:10332274

  1. Interaction between otorhinolaryngology and orthodontics: correlation between the nasopharyngeal airway and the craniofacial complex

    PubMed Central

    Stellzig-Eisenhauer, Angelika; Meyer-Marcotty, Philipp

    2011-01-01

    In terms of pathophysiology, an anatomically narrow airway is a predisposing factor for obstruction of the upper respiratory tract. The correlation between the nasopharyngeal airway and the craniofacial structures is discussed in this context. Thus a mutual interaction between the pharynx and the mandibular position was demonstrated, whereby the transverse dimension of the nasopharynx was significantly larger in patients with prognathism than in patients with retrognathism. The influence of chronic obstruction of the nasal airway on craniofacial development was also discussed. The form-and-function interaction, which ought to explain the causal relationship between nasal obstruction and craniofacial growth, appears to be of a multifactorial rather than a one-dimensional, linear nature. It is not disputed, however, that expanding the maxilla improves not only nasal volume and nasal flow, but also the subjective sensation of patients, although it is not possible to make a prognostic statement about the extent of this improvement because of the differing reactions of individuals. Orthodontic appliances for advancing the mandible can also be successfully used in the treatment of mild obstructive sleep apnea syndrome. This treatment method should be considered particularly for patients who are unwilling to undergo or cannot tolerate CPAP (continuous positive airway pressure) treatment. PMID:22073108

  2. In vivo impact of Dlx3 conditional inactivation in Neural Crest-Derived Craniofacial Bones

    PubMed Central

    Duverger, Olivier; Isaac, Juliane; Zah, Angela; Hwang, Joonsung; Berdal, Ariane; Lian, Jane B.; Morasso, Maria I.

    2012-01-01

    Mutations in DLX3 in humans lead to defects in craniofacial and appendicular bones, yet the in vivo activity related to Dlx3 function during normal skeletal development have not been fully elucidated. Here we used a conditional knockout approach to analyze the effects of neural crest deletion of Dlx3 on craniofacial bones development. At birth, mutant mice exhibit a normal overall positioning of the skull bones, but a change in the shape of the calvaria was observed. Molecular analysis of the genes affected in the frontal bones and mandibles from these mice identified several bone markers known to affect bone development, with a strong prediction for increased bone formation and mineralization in vivo. Interestingly, while a subset of these genes were similarly affected in frontal bones and mandibles (Sost, Mepe, Bglap, Alp, Ibsp, Agt), several genes, including Lect1 and Calca, were specifically affected in frontal bones. Consistent with these molecular alterations, cells isolated from the frontal bone of mutant mice exhibited increased differentiation and mineralization capacities ex vivo, supporting cell autonomous defects in neural crest cells. However, adult mutant animals exhibited decreased bone mineral density in both mandibles and calvaria, as well as a significant increase in bone porosity. Together, these observations suggest that mature osteoblasts in the adult respond to signals that regulate adult bone mass and remodeling. This study provides new downstream targets for Dlx3 in craniofacial bone, and gives additional evidence of the complex regulation of bone formation and homeostasis in the adult skeleton. PMID:22886599

  3. Indications for Computer-Aided Design and Manufacturing in Congenital Craniofacial Reconstruction.

    PubMed

    Fisher, Mark; Medina, Miguel; Bojovic, Branko; Ahn, Edward; Dorafshar, Amir H

    2016-09-01

    The complex three-dimensional relationships in congenital craniofacial reconstruction uniquely lend themselves to the ability to accurately plan and model the result provided by computer-aided design and manufacturing (CAD/CAM). The goal of this study was to illustrate indications where CAD/CAM would be helpful in the treatment of congenital craniofacial anomalies reconstruction and to discuss the application of this technology and its outcomes. A retrospective review was performed of all congenital craniofacial cases performed by the senior author between 2010 and 2014. Cases where CAD/CAM was used were identified, and illustrative cases to demonstrate the benefits of CAD/CAM were selected. Preoperative appearance, computerized plan, intraoperative course, and final outcome were analyzed. Preoperative planning enabled efficient execution of the operative plan with predictable results. Risk factors which made these patients good candidates for CAD/CAM were identified and compiled. Several indications, including multisuture and revisional craniosynostosis, facial bipartition, four-wall box osteotomy, reduction cranioplasty, and distraction osteogenesis could benefit most from this technology. We illustrate the use of CAD/CAM for these applications and describe the decision-making process both before and during surgery. We explore why we believe that CAD/CAM is indicated in these scenarios as well as the disadvantages and risks. PMID:27516839

  4. Sensitivity analysis of a validated subject-specific finite element model of the human craniofacial skeleton.

    PubMed

    Szwedowski, T D; Fialkov, J; Whyne, C M

    2011-01-01

    Developing a more complete understanding of the mechanical response of the craniofacial skeleton (CFS) to physiological loads is fundamental to improving treatment for traumatic injuries, reconstruction due to neoplasia, and deformities. Characterization of the biomechanics of the CFS is challenging due to its highly complex structure and heterogeneity, motivating the utilization of experimentally validated computational models. As such, the objective of this study was to develop, experimentally validate, and parametrically analyse a patient-specific finite element (FE) model of the CFS to elucidate a better understanding of the factors that are of intrinsic importance to the skeletal structural behaviour of the human CFS. An FE model of a cadaveric craniofacial skeleton was created from subject-specific computed tomography data. The model was validated based on bone strain measurements taken under simulated physiological-like loading through the masseter and temporalis muscles (which are responsible for the majority of craniofacial physiologic loading due to mastication). The baseline subject-specific model using locally defined cortical bone thicknesses produced the strongest correlation to the experimental data (r2 = 0.73). Large effects on strain patterns arising from small parametric changes in cortical thickness suggest that the very thin bony structures present in the CFS are crucial to characterizing the local load distribution in the CFS accurately. PMID:21381488

  5. Analysis of the upper massif of the craniofacial with the radial method – practical use

    PubMed Central

    Lepich, Tomasz; Dąbek, Józefa; Stompel, Daniel; Gielecki, Jerzy S.

    2011-01-01

    Introduction The analysis of the upper massif of the craniofacial (UMC) is widely used in many fields of science. The aim of the study was to create a high resolution computer system based on a digital information record and on vector graphics, that could enable dimension measuring and evaluation of craniofacial shape using the radial method. Material and methods The study was carried out on 184 skulls, in a good state of preservation, from the early middle ages. The examined skulls were fixed into Molisson's craniostat in the author's own modification. They were directed in space towards the Frankfurt plane and photographed in frontal norm with a digital camera. The parameters describing the plane and dimensional structure of the UMC and orbits were obtained thanks to the computer analysis of the function recordings picturing the craniofacial structures and using software combining raster graphics with vector graphics. Results It was compared mean values of both orbits separately for male and female groups. In female skulls the comparison of the left and right side did not show statistically significant differences. In male group, higher values were observed for the right side. Only the circularity index presented higher values for the left side. Conclusions Computer graphics with the software used for analysing digital pictures of UMC and orbits increase the precision of measurements as well as the calculation possibilities. Recognition of the face in the post mortem examination is crucial for those working on identification in anthropology and criminology laboratories. PMID:22291834

  6. The Partnership of Medical Genetics and Oral and Maxillofacial Surgery When Evaluating Craniofacial Anomalies.

    PubMed

    Lin, Angela E

    2015-12-01

    A medical geneticist who has an interest in craniofacial anomalies forms a natural partnership with an oral and maxillofacial surgeon, which facilitates patient care. Using complementary diagnostic and therapeutic skills, the search for a recognizable pattern can lead to a syndrome diagnosis. After the initial examination, there is usually genetic testing to confirm the clinical diagnosis. Once established, care coordination and genetic counseling can be provided for the parents and the patient. Enrolling the patient into a research study could be helpful to understand the diagnosis but, in some circumstances, might not have immediate clinical relevance. A multidisciplinary craniofacial team is generally necessary for long-term management. This article discusses illustrative patients evaluated from 2007 through 2011 with the senior oral and maxillofacial surgeon at the Massachusetts General Hospital (Leonard B. Kaban, DMD, MD). These include single patients with the Nablus mask-like facies syndrome and auriculo-condylar syndrome and a series of 20 patients with Gorlin syndrome followed by a multispecialty team. A successful collaboration between a medical geneticist and an oral and maxillofacial surgeon optimizes the treatment of patients with craniofacial anomalies. PMID:26608141

  7. Lyophilized platelet-rich fibrin (PRF) promotes craniofacial bone regeneration through Runx2.

    PubMed

    Li, Qi; Reed, David A; Min, Liu; Gopinathan, Gokul; Li, Steve; Dangaria, Smit J; Li, Leo; Geng, Yajun; Galang, Maria-Therese; Gajendrareddy, Praveen; Zhou, Yanmin; Luan, Xianghong; Diekwisch, Thomas G H

    2014-01-01

    Freeze-drying is an effective means to control scaffold pore size and preserve its composition. The purpose of the present study was to determine the applicability of lyophilized Platelet-rich fibrin (LPRF) as a scaffold for craniofacial tissue regeneration and to compare its biological effects with commonly used fresh Platelet-rich fibrin (PRF). LPRF caused a 4.8-fold±0.4-fold elevation in Runt-related transcription factor 2 (Runx2) expression in alveolar bone cells, compared to a 3.6-fold±0.2-fold increase when using fresh PRF, and a more than 10-fold rise of alkaline phosphatase levels and mineralization markers. LPRF-induced Runx2 expression only occurred in alveolar bone and not in periodontal or dental follicle cells. LPRF also caused a 1.6-fold increase in osteoblast proliferation (p<0.001) when compared to fresh PRF. When applied in a rat craniofacial defect model for six weeks, LPRF resulted in 97% bony coverage of the defect, compared to 84% for fresh PRF, 64% for fibrin, and 16% without scaffold. Moreover, LPRF thickened the trabecular diameter by 25% when compared to fresh PRF and fibrin, and only LPRF and fresh PRF resulted in the formation of interconnected trabeculae across the defect. Together, these studies support the application of lyophilized PRF as a biomimetic scaffold for craniofacial bone regeneration and mineralized tissue engineering. PMID:24830554

  8. A role for chemokine signaling in neural crest cell migration and craniofacial development

    PubMed Central

    Killian, Eugenia C. Olesnicky; Birkholz, Denise A.; Artinger, Kristin Bruk

    2009-01-01

    Neural crest cells (NCCs) are a unique population of multipotent cells that migrate along defined pathways throughout the embryo and give rise to many diverse cell types including pigment cells, craniofacial cartilage and the peripheral nervous system (PNS). Aberrant migration of NCCs results in a wide variety of congenital birth defects including craniofacial abnormalities. The chemokine Sdf1 and its receptors, Cxcr4 and Cxcr7, have been identified as key components in the regulation of cell migration in a variety of tissues. Here we describe a novel role for the zebrafish chemokine receptor Cxcr4a in the development and migration of cranial NCCs (CNCCs). We find that loss of Cxcr4a, but not Cxcr7b results in aberrant CNCC migration, defects in the neurocranium, as well as cranial ganglia dismorphogenesis. Moreover, overexpression of either Sdf1b or Cxcr4a causes aberrant CNCC migration and results in ectopic craniofacial cartilages. We propose a model in which Sdf1b signaling from the pharyngeal arch endoderm and optic stalk to Cxcr4a expressing CNCCs is important for both the proper condensation of the CNCCs into pharyngeal arches and the subsequent patterning and morphogenesis of the neural crest derived tissues. PMID:19576198

  9. Lyophilized Platelet-Rich Fibrin (PRF) Promotes Craniofacial Bone Regeneration through Runx2

    PubMed Central

    Li, Qi; Reed, David A.; Min, Liu; Gopinathan, Gokul; Li, Steve; Dangaria, Smit J.; Li, Leo; Geng, Yajun; Galang, Maria-Therese; Gajendrareddy, Praveen; Zhou, Yanmin; Luan, Xianghong; Diekwisch, Thomas G. H.

    2014-01-01

    Freeze-drying is an effective means to control scaffold pore size and preserve its composition. The purpose of the present study was to determine the applicability of lyophilized Platelet-rich fibrin (LPRF) as a scaffold for craniofacial tissue regeneration and to compare its biological effects with commonly used fresh Platelet-rich fibrin (PRF). LPRF caused a 4.8-fold ± 0.4-fold elevation in Runt-related transcription factor 2 (Runx2) expression in alveolar bone cells, compared to a 3.6-fold ± 0.2-fold increase when using fresh PRF, and a more than 10-fold rise of alkaline phosphatase levels and mineralization markers. LPRF-induced Runx2 expression only occurred in alveolar bone and not in periodontal or dental follicle cells. LPRF also caused a 1.6-fold increase in osteoblast proliferation (p < 0.001) when compared to fresh PRF. When applied in a rat craniofacial defect model for six weeks, LPRF resulted in 97% bony coverage of the defect, compared to 84% for fresh PRF, 64% for fibrin, and 16% without scaffold. Moreover, LPRF thickened the trabecular diameter by 25% when compared to fresh PRF and fibrin, and only LPRF and fresh PRF resulted in the formation of interconnected trabeculae across the defect. Together, these studies support the application of lyophilized PRF as a biomimetic scaffold for craniofacial bone regeneration and mineralized tissue engineering. PMID:24830554

  10. Apert Syndrome: Outcomes From the Australian Craniofacial Unit's Birth to Maturity Management Protocol.

    PubMed

    David, David J; Anderson, Peter; Flapper, Walter; Syme-Grant, Jonathan; Santoreneos, Steven; Moore, Mark

    2016-07-01

    The complex, progressive, multisystem nature of Apert syndrome presents many challenges to managing surgeons. Based on the pioneering work of Paul Tessier, the senior author developed a multidisciplinary birth to maturity management protocol for Apert syndrome. Between 1975 and 2014 the Australian Craniofacial Unit has treated 174 Apert syndrome patients and 28 have completed full protocol management. This paper reviews the scientific contribution made to the management of Apert syndrome by the Australian Craniofacial Unit, the development and evolution of the protocol and presents comprehensive data on the surgical and nonsurgical craniofacial interventions, and outcomes for the 28 patients who have completed the programme; 26 had normal visual acuity, 22 had normal hearing, 20 achieved normal or nearly normal speech, 24 a functional class I occlusion, 18 completed mainstream schooling of whom at least 8 went on to tertiary education, at least 13 gained employment and 15 developed good social groups. These outcomes equal or exceed those presented by other authors and provide compelling evidence of the value of protocol management in clinical outcomes, in addition to their value in international collaboration, and scientific development of future therapeutic strategies for the management of Apert syndrome. PMID:27380568

  11. Three-dimensional spiral CT for craniofacial surgical planning and evaluation

    NASA Astrophysics Data System (ADS)

    Cavalcanti, Marcelo G.; Vannier, Michael W.

    1998-06-01

    Purpose: To evaluate measurement accuracy of 3D volumetric medical imaging from Spiral CT for craniofacial surgical planing. Material and methods: The study population consisted of 5 cadaver heads that were imaged on a spiral CT scanner with volumetric technique high-resolution contiguous axial slices 3mm thickness and 2mm/sec table feed, with 120Kvp and 200 mA. The archived CT data were stored on optical disks to allow full retrospective review of any image. The data sets were transferred to a networked computer workstation, to generated 3D volumetric images for subsequent manipulation and analyses. The computer graphics workstation allowed to do measurements, based on conventional craniometric anatomic landmarks, by 2 observers with 2 sessions each. The specimens were then submitted to a dynamic blunt force, in an effort to simulate craniofacial fractures, scanned and measured again. The soft tissues were then partially subsequently removed and the measurements were repeated by electromagnetic digitizer. Statistical analysis was done using analysis of variance. Results: Measurements from 3D spiral CT scans can be precise with high repeatability and sufficient accuracy for surgical planing. Conclusion: 3D computer graphics by spiral CT allowed, in vitro, sufficient precision for assessment of surgical management. Digital volumetric spiral CT imaging is valid quantitatively and qualitatively for craniofacial surgical planning and evaluation.

  12. Inheritance of craniofacial features in Colombian families with class III malocclusion

    PubMed Central

    Otero, L; Quintero, L; Champsaur, D; Simanca, E

    2010-01-01

    Introduction The inheritance of class III malocclusion has been well documented, but the inheritance of craniofacial structures in Colombian families with this malocclusion has been not yet reported. Patients and methods The study sample of 25 families comprised 186 untreated orthodontic individuals from 8 to 60 years old. Pedigrees were drawn using Cyrillic software. Complete family histories for each proband were ascertained and the affection status of relatives was confirmed by lateral cephalograms and facial and dental photographs. Analysis of variance and odds ratio test for each parameter was performed to estimate inheritance from parents to offspring and to determine similar phenotypic features in relatives. Results The analysis of the pedigrees suggests autosomal dominant inheritance. The craniofacial characteristics that showed more resemblance between parents and offspring were middle facial height, shorter anterior cranial base and mandibular prognathism. In contrast the protrusion of upper lip and maxillary retrusion were the phenotypic features that contributed to class III in the majority of families. Conclusion Knowledge of the inheritance of craniofacial phenotypes in class III malocclusion will enable the design of new therapies to treat this malocclusion. PMID:23776347

  13. Neural Crest-Specific TSC1 Deletion in Mice Leads to Sclerotic Craniofacial Bone Lesion.

    PubMed

    Fang, Fang; Sun, Shaogang; Wang, Li; Guan, Jun-Lin; Giovannini, Marco; Zhu, Yuan; Liu, Fei

    2015-07-01

    Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in either TSC1 or TSC2. TSC has high frequency of osseous manifestations such as sclerotic lesions in the craniofacial region. However, an animal model that replicates TSC craniofacial bone lesions has not yet been described. The roles of Tsc1 and the sequelae of Tsc1 dysfunction in bone are unknown. In this study, we generated a mouse model of TSC with a deletion of Tsc1 in neural crest-derived (NCD) cells that recapitulated the sclerotic craniofacial bone lesions in TSC. Analysis of this mouse model demonstrated that TSC1 deletion led to enhanced mTORC1 signaling in NCD bones and the increase in bone formation is responsible for the aberrantly increased bone mass. Lineage mapping revealed that TSC1 deficient NCD cells overpopulated the NCD bones. Mechanistically, hyperproliferation of osteoprogenitors at an early postnatal stage accounts for the increased osteoblast pool. Intriguingly, early postnatal treatment with rapamycin, an mTORC1 inhibitor, can completely rescue the aberrant bone mass, but late treatment cannot. Our data suggest that enhanced mTOR signaling in NCD cells can increase bone mass through enlargement of the osteoprogenitor pool, which likely explains the sclerotic bone lesion observed in TSC patients. PMID:25639352

  14. In vivo impact of Dlx3 conditional inactivation in neural crest-derived craniofacial bones.

    PubMed

    Duverger, Olivier; Isaac, Juliane; Zah, Angela; Hwang, Joonsung; Berdal, Ariane; Lian, Jane B; Morasso, Maria I

    2013-03-01

    Mutations in DLX3 in humans lead to defects in craniofacial and appendicular bones, yet the in vivo activities related to Dlx3 function during normal skeletal development have not been fully elucidated. Here we used a conditional knockout approach to analyze the effects of neural crest deletion of Dlx3 on craniofacial bones development. At birth, mutant mice exhibit a normal overall positioning of the skull bones, but a change in the shape of the calvaria was observed. Molecular analysis of the genes affected in the frontal bones and mandibles from these mice identified several bone markers known to affect bone development, with a strong prediction for increased bone formation and mineralization in vivo. Interestingly, while a subset of these genes were similarly affected in frontal bones and mandibles (Sost, Mepe, Bglap, Alp, Ibsp, Agt), several genes, including Lect1 and Calca, were specifically affected in frontal bones. Consistent with these molecular alterations, cells isolated from the frontal bone of mutant mice exhibited increased differentiation and mineralization capacities ex vivo, supporting cell autonomous defects in neural crest cells. However, adult mutant animals exhibited decreased bone mineral density in both mandibles and calvaria, as well as a significant increase in bone porosity. Together, these observations suggest that mature osteoblasts in the adult respond to signals that regulate adult bone mass and remodeling. This study provides new downstream targets for Dlx3 in craniofacial bone, and gives additional evidence of the complex regulation of bone formation and homeostasis in the adult skeleton. PMID:22886599

  15. A cross-sectional study on the relationship between craniofacial morphology and the coronoid process.

    PubMed

    Torisu, Takahiro; Yamada, Kazuhiro; Fukui, Tadao; Yamaki, Masaki; Nakamura, Junichi; Saito, Isao

    2009-12-01

    Although there have been some reports on the relationship between craniofacial morphology and the activity of the temporal muscle attached to the coronoid process, such relationship is still unclear. The aim of the present study was therefore to investigate the relationship between the coronoid process and overall craniofacial morphology using lateral cephalograms of 60 female subjects (mean age 9.6 years) without mandibular deviation. Statistical testing was undertaken using stepwise regression analysis. Anterior coronoid marginal depth correlated negatively (r = 0.71) with gonial angle, SNA, and overjet. The coronoid angle also correlated negatively (r = 0.86) with both the vertical and horizontal lengths from sella to the coronoid tip as well as with the horizontal length from sella to the posterior ramus margin. Furthermore, the coronoid length correlated positively (r = 0.61) with the coronoid angle and the anterior coronoid marginal depth. The coronoid width was also positively (r = 0.69) correlated with overbite. Coronoid process morphology is related not only to mandibular morphology and position but also to maxillary position and the dental relationship in the anterior region. It therefore seems clear that coronoid process morphology might be related to temporal muscle functioning and its associated craniofacial morphological measurements. PMID:19622629

  16. Contribution of the posterior parietal cortex in reaching, grasping, and using objects and tools

    PubMed Central

    Vingerhoets, Guy

    2014-01-01

    Neuropsychological and neuroimaging data suggest a differential contribution of posterior parietal regions during the different components of a transitive gesture. Reaching requires the integration of object location and body position coordinates and reaching tasks elicit bilateral activation in different foci along the intraparietal sulcus. Grasping requires a visuomotor match between the object's shape and the hand's posture. Lesion studies and neuroimaging confirm the importance of the anterior part of the intraparietal sulcus for human grasping. Reaching and grasping reveal bilateral activation that is generally more prominent on the side contralateral to the hand used or the hemifield stimulated. Purposeful behavior with objects and tools can be assessed in a variety of ways, including actual use, pantomimed use, and pure imagery of manipulation. All tasks have been shown to elicit robust activation over the left parietal cortex in neuroimaging, but lesion studies have not always confirmed these findings. Compared to pantomimed or imagined gestures, actual object and tool use typically produces activation over the left primary somatosensory region. Neuroimaging studies on pantomiming or imagery of tool use in healthy volunteers revealed neural responses in possibly separate foci in the left supramarginal gyrus. In sum, the parietal contribution of reaching and grasping of objects seems to depend on a bilateral network of intraparietal foci that appear organized along gradients of sensory and effector preferences. Dorsal and medial parietal cortex appears to contribute to the online monitoring/adjusting of the ongoing prehensile action, whereas the functional use of objects and tools seems to involve the inferior lateral parietal cortex. This functional input reveals a clear left lateralized activation pattern that may be tuned to the integration of acquired knowledge in the planning and guidance of the transitive movement. PMID:24634664

  17. Fronto-Parietal Connectivity Is a Non-Static Phenomenon with Characteristic Changes during Unconsciousness

    PubMed Central

    Kochs, Eberhard F.; Ilg, Rüdiger; Schneider, Gerhard

    2014-01-01

    Background It has been previously shown that loss of consciousness is associated with a breakdown of dominating fronto-parietal feedback connectivity as assessed by electroencephalogram (EEG) recordings. Structure and strength of network connectivity may change over time. Aim of the current study is to investigate cortico-cortical connectivity at different time intervals during consciousness and unconsciousness. For this purpose, EEG symbolic transfer entropy (STEn) was calculated to indicate cortico-cortical information transfer at different transfer times. Methods The study was performed in 15 male volunteers. 29-channel EEG was recorded during consciousness and propofol-induced unconsciousness. EEG data were analyzed by STEn, which quantifies intensity and directionality of the mutual information flow between two EEG channels. STEn was computed over fronto-parietal channel pair combinations (10 s length, 0.5–45 Hz total bandwidth) to analyze changes of intercortical directional connectivity. Feedback (fronto → parietal) and feedforward (parieto → frontal) connectivity was calculated for transfer times from 25 ms to 250 ms in 5 ms steps. Transfer times leading to maximum directed interaction were identified to detect changes of cortical information transfer (directional connectivity) induced by unconsciousness (p<0.05). Results The current analyses show that fronto-parietal connectivity is a non-static phenomenon. Maximum detected interaction occurs at decreased transfer times during propofol-induced unconsciousness (feedback interaction: 60 ms to 40 ms, p = 0.002; feedforward interaction: 65 ms to 45 ms, p = 0.001). Strength of maximum feedback interaction decreases during unconsciousness (p = 0.026), while no effect of propofol was observed on feedforward interaction. During both consciousness and unconsciousness, intensity of fronto-parietal interaction fluctuates with increasing transfer times. Conclusion Non-stationarity of directional

  18. Immune response to Mycobacterium tuberculosis infection in the parietal pleura of patients with tuberculous pleurisy.

    PubMed

    Caramori, Gaetano; Lasagna, Lisa; Casalini, Angelo G; Adcock, Ian M; Casolari, Paolo; Contoli, Marco; Tafuro, Federica; Padovani, Anna; Chung, Kian Fan; Barnes, Peter J; Papi, Alberto; Rindi, Guido; Bertorelli, Giuseppina

    2011-01-01

    The T lymphocyte-mediated immune response to Mycobacterium tuberculosis infection in the parietal pleura of patients with tuberculous pleurisy is unknown. The aim of this study was to investigate the immune response in the parietal pleura of tuberculous pleurisy compared with nonspecific pleuritis. We have measured the numbers of inflammatory cells particularly T-cell subsets (Th1/Th2/Th17/Treg cells) in biopsies of parietal pleura obtained from 14 subjects with proven tuberculous pleurisy compared with a control group of 12 subjects with nonspecific pleuritis. The number of CD3+, CD4+ and CCR4+ cells and the expression of RORC2 mRNA were significantly increased in the tuberculous pleurisy patients compared with the nonspecific pleuritis subjects. The number of toluidine blue+ cells, tryptase+ cells and GATA-3+ cells was significantly decreased in the parietal pleura of patients with tuberculous pleurisy compared with the control group of nonspecific pleuritis subjects. Logistic regression with receiver operator characteristic (ROC) analysis for the three single markers was performed and showed a better performance for GATA-3 with a sensitivity of 75%, a specificity of 100% and an AUC of 0.88. There was no significant difference between the two groups of subjects in the number of CD8, CD68, neutrophil elastase, interferon (IFN)-γ, STAT4, T-bet, CCR5, CXCR3, CRTH2, STAT6 and FOXP3 positive cells. Elevated CD3, CD4, CCR4 and Th17 cells and decreased mast cells and GATA-3+ cells in the parietal pleura distinguish patients with untreated tuberculous pleurisy from those with nonspecific pleuritis. PMID:21829471

  19. Integration of comprehensive 3D microCT and signaling analysis reveals differential regulatory mechanisms of craniofacial bone development.

    PubMed

    Ho, Thach-Vu; Iwata, Junichi; Ho, Hoang Anh; Grimes, Weston C; Park, Shery; Sanchez-Lara, Pedro A; Chai, Yang

    2015-04-15

    Growth factor signaling regulates tissue-tissue interactions to control organogenesis and tissue homeostasis. Specifically, transforming growth factor beta (TGFβ) signaling plays a crucial role in the development of cranial neural crest (CNC) cell-derived bone, and loss of Tgfbr2 in CNC cells results in craniofacial skeletal malformations. Our recent studies indicate that non-canonical TGFβ signaling is activated whereas canonical TGFβ signaling is compromised in the absence of Tgfbr2 (in Tgfbr2(fl/fl);Wnt1-Cre mice). A haploinsufficiency of Tgfbr1 (aka Alk5) (Tgfbr2(fl/fl);Wnt1-Cre;Alk5(fl/+)) largely rescues craniofacial deformities in Tgfbr2 mutant mice by reducing ectopic non-canonical TGFβ signaling. However, the relative involvement of canonical and non-canonical TGFβ signaling in regulating specific craniofacial bone formation remains unclear. We compared the size and volume of CNC-derived craniofacial bones (frontal bone, premaxilla, maxilla, palatine bone, and mandible) from E18.5 control, Tgfbr2(fl/fl);Wnt1-Cre, and Tgfbr2(fl/fl);Wnt1-Cre;Alk5(fl/+)mice. By analyzing three dimensional (3D) micro-computed tomography (microCT) images, we found that different craniofacial bones were restored to different degrees in Tgfbr2(fl/fl);Wnt1-Cre;Alk5(fl/+) mice. Our study provides comprehensive information on anatomical landmarks and the size and volume of each craniofacial bone, as well as insights into the extent that canonical and non-canonical TGFβ signaling cascades contribute to the formation of each CNC-derived bone. Our data will serve as an important resource for developmental biologists who are interested in craniofacial morphogenesis. PMID:25722190

  20. Matrix metalloproteinase-9 expression is enhanced in renal parietal epithelial cells of zucker diabetic Fatty rats and is induced by albumin in in vitro primary parietal cell culture.

    PubMed

    Zhang, Yuanyuan; George, Jasmine; Li, Yun; Olufade, Rebecca; Zhao, Xueying

    2015-01-01

    As a subfamily of matrix metalloproteinases (MMPs), gelatinases including MMP-2 and MMP-9 play an important role in remodeling and homeostasis of the extracellular matrix. However, conflicting results have been reported regarding their expression level and activity in the diabetic kidney. This study investigated whether and how MMP-9 expression and activity were changed in glomerular epithelial cells upon albumin overload. In situ zymography, immunostaining and Western blot for renal MMP gelatinolytic activity and MMP-9 protein expression were performed in Zucker lean and Zucker diabetic rats. Confocal microscopy revealed a focal increase in gelatinase activity and MMP-9 protein in the glomeruli of diabetic rats. Increased glomerular MMP-9 staining was mainly observed in hyperplastic parietal epithelial cells (PECs) expressing claudin-1 in the diabetic kidneys. Interestingly, increased parietal MMP-9 was often accompanied by decreased staining for podocyte markers (nephrin and podocalyxin) in the sclerotic area of affected glomeruli in diabetic rats. Additionally, urinary excretion of podocyte marker proteins was significantly increased in association with the levels of MMP-9 and albumin in the urine of diabetic animals. To evaluate the direct effect of albumin on expression and activity of MMP-9, primary cultured rat glomerular PECs were incubated with rat serum albumin (0.25 - 1 mg/ml) for 24 - 48 hrs. MMP-9 mRNA levels were significantly increased following albumin treatment. Meanwhile, albumin administration resulted in a dose-dependent increase in MMP-9 protein and activity in culture supernatants of PECs. Moreover, albumin activated p44/42 mitogen-activated protein kinase (MAPK) in PECs. Inhibition of p44/42 MAPK suppressed albumin-induced MMP-9 secretion from glomerular PECs. Taken together, we have demonstrated that an up-regulation of MMP-9 in activated parietal epithelium is associated with a loss of adjacent podocytes in progressive diabetic nephropathy