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Sample records for syndrome supernumerary derivative

  1. Syndromes with supernumerary teeth.

    Science.gov (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

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

  2. Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease.

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    Prieto, Juan C; Garcia, Nilda M; Elder, Frederick F; Zinn, Andrew R; Baker, Linda A

    2007-11-01

    Phenotypically healthy carriers of the balanced 11;22 translocation, the most frequent non-Robertsonian constitutional translocation known in human beings, are at risk of having a progeny with supernumerary derivative (22)t(11;22) syndrome [der(22) syndrome]. We present the cases of 2 male patients with supernumerary der(22) syndrome [47,XY,+der(22)t(11;22)(q23;q11.2)mat], yielding partial trisomy for 22pter-q11 and 11q23-qter. These cases expand the phenotype of the der(22) syndrome, with the first case highlighting the phenotypic overlap of VACTERL and the second adding Hirschsprung's disease and intestinal malrotation to the list of associated anorectal anomalies. Because der(22) syndrome and cat eye syndrome (partial tetrasomy of 22q11) share a similar region of extra dosage on 22q11 and both typically manifest an anorectal phenotype, a dosage-sensitive gene for anorectal anomalies may be present in this locus.

  3. Supernumerary teeth in non-syndromic patients

    OpenAIRE

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh

    2012-01-01

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to ...

  4. Supernumerary teeth in non-syndromic patients.

    Science.gov (United States)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh

    2012-03-01

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  5. Supernumerary teeth in non-syndromic patients

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    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh [Nair Hospital Dental College, Maharashtra (India)

    2012-03-15

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  6. Supernumerary teeth in non-syndromic patients

    International Nuclear Information System (INIS)

    Mali, Santosh; Karjodkar, Freny Rashmiraj; Sontakke, Subodh; Sansare, Kaustubh

    2012-01-01

    Hyperdontia or supernumerary teeth without associated syndrome is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardner's syndrome, cleidocranial dysplasia, and so on. Five patients with supernumerary teeth visited our department. They had no familial history or other pathology, certain treatment protocols was modified due to the presence of supernumerary teeth. Non-syndromic supernumerary teeth, if asymptomatic, need to have periodical radiographic observation. If they showed no variation as they impacted in the jaw, careful examination is necessary because they may develop into pathological status such as dentigerous cysts. The importance of a precise clinical history and radiographic examination for patients with multiple supernumerary teeth should be emphasized.

  7. Crouzon syndrome with multiple supernumerary teeth.

    Science.gov (United States)

    Torun, G S; Akbulut, A

    2017-02-01

    Crouzon syndrome (CS) is an autosomal dominant disorder characterized by craniofacial deformities caused by the early closure of cranial sutures. It is diagnosed by the presence of a flat sphenoid bone, protrusion of eyeballs (exophthalmos), and midfacial hypoplasia. Although hypodontia is usually present in cases with CS, supernumerary teeth are rarely seen. A 16-year-old male patient with CS was referred to our clinic. He had a high forehead, beaked nose, hypertelorism, palpebral ptosis, and asymmetrical orbits. Bilateral multiple supernumerary teeth were observed in his upper and lower jaws. Early diagnosis of CS is helpful in dental and craniofacial treatment. Because of multiple facial and oral problems, this patient required a multidisciplinary treatment approach.

  8. Non-syndrome multiple supernumerary teeth: A case report.

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    Gündüz, Kaan; Muğlali, Mehtap

    2007-05-01

    The purpose of this case report is to present a case of a non-syndrome male patient with multiple supplemental supernumerary teeth in three quadrants of his mouth. Supernumerary teeth are described as the teeth formed in excess of the number found in a normal dentition. Prevalence of supernumerary teeth varies between 0.1% and 3.8% in the general Caucasian population. Multiple supernumerary teeth are not a common occurrence, although a single or a few supernumerary tooth/teeth in each case have been widely reported in the literature. An 11-year-old male presented for a routine preventive dental visit. A routine panoramic radiograph showed the presence of multiple supernumerary teeth which were located in the maxillary right canine incisor region, the maxillary left premolar region, and the mandibular right premolar region. The family's medical history was non-contributory, and an extraoral examination did not reveal any abnormality. It is rare to find multiple supernumerary teeth in individuals with no other associated diseases or syndromes. This case report presents a case of a non-syndrome male patient with multiple supplemental supernumerary teeth in three quadrants of his mouth.

  9. Non-syndromic supernumerary teeth: report of a case with 6 supernumerary teeth

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    Taghibakhsh M

    2011-02-01

    Full Text Available "nBackground and Aims: Multiple supernumerary teeth are rare and often found in association with syndromes such as Gardner, Cleidocranial dysplasia and cleft lip and palate, with a much less chance for isolated"nnon-syndromic cases. The aim of this study was to report a case with 6 supernumerary teeth without syndromic association."nCase Report: The patient was a 33 year-old female, referred to oral diseases and diagnosis department with chief complaint of sensitivity to cold and hot food in right upper premolar region. Oral examination revealed 5 erupted lingually supernumerary teeth (four in mandibular and one in maxillary premolar region, respectively. Further panoramic radiography clarified an extra impacted tooth in the palatal region of left premolar maxillary area. All extra teeth had been appeared since the age of 17 during one year, as the patient claimed. Medical history and thorough clinical and paraclinical examinations were not significant except for the hypothyroidism, since 5 years ago. No other family member noticed to be the case. Based on our findings, a diagnosis of non-syndromic multiple supernumerary teeth was established."nConclusion: A thorough examination of each patient presented with supernumerary teeth, including panoramic and intraoral radiographic images may provide valuable information regarding accompanying syndromes and unerupted teeth. Early diagnosis is an essential step for orthodontic or surgical decisions making, preventing or avoiding worsening complications such as malocclusion, adjacent normal teeth delayed eruption or rotation, diasthema, cystic lesions and resorption of contiguous teeth.

  10. Non-syndromic multiple supernumerary teeth: a rare entity.

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    Agrawal, Jiwanasha Manish; Agrawal, Manish Suresh; Nanjannawar, Lalita Girish; Adaki, Raghavendra Vithalappa

    2013-01-10

    Hyperdontia or supernumerary teeth without associated syndromes is a rare phenomenon, as supernumerary teeth are usually associated with cleft lip and palate or other syndromes such as Gardeners syndrome, cleidocranial dysplasia, trichorhinophalangic syndrome, etc. A 15-year-old girl reported for orthodontic treatment with a chief complaint of irregular teeth and unaesthetic smile. On examination class I malocclusion with severe crowding of upper anteriors, anterior open bite of 5 mm, cross bite with upper right posteriors, upper midline shift to right by 5 mm and two supernumerary teeth placed buccally in between 16 & 17 and 26 & 27, respectively, were found. On routine radiographical examination, two additional impacted supernumerary teeth were noticed distal to 18 and in mandibular arch in between roots of 35 and 36. A general physician was consulted who confirmed that there was no associated syndrome. Family history did not reveal any positive findings.

  11. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome.

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    Chen, Chih-Ping; Ko, Tsang-Ming; Chen, Yi-Yung; Su, Jun-Wei; Wang, Wayseen

    2013-09-15

    We present prenatal diagnosis of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 22 associated with cat eye syndrome (CES) using cultured amniocytes in a pregnancy with fetal microcephaly, intrauterine growth restriction, left renal hypoplasia, total anomalous pulmonary venous return with dominant right heart and right ear deformity. The sSMC was bisatellited and dicentric, and was characterized by multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH). The SALSA MLPA P250-B1 DiGeorge Probemix showed duplication of gene dosage in the CES region. aCGH showed a 1.26-Mb duplication at 22q11.1-q11.21 encompassing CECR1-CECR7. The sSMC was likely inv dup(22) (q11.21). Prenatal diagnosis of an sSMC(22) at amniocentesis should alert CES. MLPA, aCGH and fetal ultrasound are useful for rapid diagnosis of CES in case of prenatally detected sSMC(22). Copyright © 2013 Elsevier B.V. All rights reserved.

  12. Crouzon syndrome with multiple supernumerary teeth | Torun ...

    African Journals Online (AJOL)

    Although hypodontia is usually present in cases with CS, supernumerary teeth are rarely seen. A 16‑year‑old male patient with CS was referred to our clinic. He had a high forehead, beaked nose, hypertelorism, palpebral ptosis, and asymmetrical orbits. Bilateral multiple supernumerary teeth were observed in his upper and ...

  13. Non-syndrome associated multiple supernumerary teeth: A report of two cases

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    Nayak Ullal

    2006-05-01

    Full Text Available Multiple supernumerary teeth are usually associated with syndromes. On the contrary, multiple supernumerary teeth without association with any syndromes are very rare. This article presents a report of two cases with multiple supernumerary teeth not associated with any syndrome and emphasizes the routine advice of orthopantomogram whenever a single supernumerary tooth is detected irrespective of whether the patient has any syndrome or not.

  14. Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15

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    Sigman Marian

    2008-01-01

    Full Text Available Abstract Background Maternally-derived duplications that include the imprinted region on the proximal long arm of chromosome 15 underlie a complex neurobehavioral disorder characterized by cognitive impairment, seizures and a substantial risk for autism spectrum disorders1. The duplications most often take the form of a supernumerary pseudodicentric derivative chromosome 15 [der(15] that has been called inverted duplication 15 or isodicentric 15 [idic(15], although interstitial rearrangements also occur. Similar to the deletions found in most cases of Angelman and Prader Willi syndrome, the duplications appear to be mediated by unequal homologous recombination involving low copy repeats (LCR that are found clustered in the region. Five recurrent breakpoints have been described in most cases of segmental aneuploidy of chromosome 15q11-q13 and previous studies have shown that most idic(15 chromosomes arise through BP3:BP3 or BP4:BP5 recombination events. Results Here we describe four duplication chromosomes that show evidence of atypical recombination events that involve regions outside the common breakpoints. Additionally, in one patient with a mosaic complex der(15, we examined homologous pairing of chromosome 15q11-q13 alleles by FISH in a region of frontal cortex, which identified mosaicism in this tissue and also demonstrated pairing of the signals from the der(15 and the normal homologues. Conclusion Involvement of atypical BP in the generation of idic(15 chromosomes can lead to considerable structural heterogeneity.

  15. Non-syndrome patient with bilateral supernumerary teeth: Case report and 9-year follow-up.

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    Akgun, Ozlem Marti; Sabuncuoglu, Fidan; Altug, Ayberk; Altun, Ceyhan

    2013-01-01

    The presence of supernumerary teeth, also known as hyperdontia, is the condition of having teeth in addition to the regular number of teeth. The occurrence of multiple supernumerary teeth is often found in association with syndromes such as Gardner syndrome, Anderson-Fabry disease, Ellis-van Creveld syndrome, Ehlers-Danlos syndrome, incontinentia pigmenti, and Tricho-rhino-phalangeal syndrome. Only a few examples of nonsyndromic multiple supernumerary teeth have been reported in literature. In this report, we present the unusual case and 9-year follow up of a non-syndrome female patient with bilateral supernumerary teeth that occurred with an interval of several years.

  16. Prenatal diagnosis and genetic counseling in a fetus associated with risk of Angelman syndrome with a small supernumerary marker chromosome derived from chromosome 22.

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    Hu, Yu-An; Cui, Yingxia; Fan, Xiaobo; Wu, Qiuyue; Li, Weiwei; Wang, Weiping

    2016-01-01

    Angelman syndrome (AS) is a neurodevelopmental disorder. AS patients concomitant with sSMC are rather rare events. It will provide more useful and proper information for genetic counseling to identify the sSMC origin. A 27-year-old woman was referred for genetic counseling and prenatal diagnosis at 26 weeks of gestation due to her elder daughter, diagnosed as Angelman syndrome (AS) with an interstitial deletion in one of the chromosomes 15, carrying a small supernumerary marker chromosome (sSMC). The G-banding results of the woman and her current fetus both were 47,XX,+mar. In this paper, fluorescence in situ hybridization (FISH) results showed that there was no deletion of chromosome 15 in the woman and fetus. We demonstrated that the proband's sSMC was maternally inherited and was an inv dup(22)(q11.1) , and that the deletion in 15q11.2-q13.1 was de novo. Taking into account above results and normal phenotypes of the proband's mother, in this case we suggest that the sSMC don't increase the recurrence risk of AS. After prenatal diagnosis, the woman chose to continue the pregnancy, and finally gave birth to a normal female infant.

  17. Report of a case with 19 supernumerary teeth in a non-syndromic patient.

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    Yan, Lei; Yu, Long Wang; Bhandari, Kishor; Shan, Chang Li

    2014-04-01

    Supernumerary teeth occur frequently in human dentition, but presence of multiple supernumerary teeth in patients without any associated syndrome or systemic disorder is a rare phenomenon. Presence of supernumerary teeth in itself is not a problem and may not require removal in all cases but in certain conditions, they may be associated with several clinical complications and require removal. Here, we present a 14 year old female who complained of non emergence of permanent teeth. Orthopantomogram initially showed presence of fifteen impacted supernumerary teeth distributed in all quadrants, but later, cone-beam computed tomography further revealed four additional teeth, totaling to nineteen supernumerary teeth. Consultation with concerned specialists ruled out any syndromes or systemic disorders which led us to the diagnosis of "non-syndromic multiple supernumerary teeth" and this probably is the highest number of supernumerary teeth reported in a single non-syndromic patient till date.

  18. Non-syndromic multiple supernumerary teeth: meta-analysis.

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    Alvira-González, Joaquín; Gay-Escoda, Cosme

    2012-05-01

    Non-syndromic multiple supernumerary teeth (NSMST) is a condition with a very low prevalence and which is opportunely described in the literature by case reports or group of cases. This represents a problem when it comes to describing and discussing the characteristics of this disorder. A search was conducted in PubMed, Web of Knowledge, Science Direct, and Scopus databases to locate and identify cases and series of cases about articles on multiple supernumerary teeth not associated with syndromes that have been reported so far. The following data were recorded: age, gender, total number of supernumerary teeth, number of teeth in both the maxilla and mandible, respectively, and number of teeth in each dental series (incisor, canine-premolar, and molar). Bilaterality in dental series and its localization in either maxilla or mandible were also determined. A total of 46 cases including patients of both genders with a mean age of 19 years (SD = 6.826) and a ratio of 2.14:1 were identified. A total of 393 supernumeraries were reported; 43.26% (n = 170) were located in the maxilla and 56.74% (n = 223) in the mandible. No significant differences were found between genders with respect to the total number, involvement of the dental series, or distribution of supernumerary teeth in each of the arches. Although NSMST is a condition that has a higher incidence in the male gender, no differences have been found as to their number and localization in both genders. Bilaterality seems to be a common characteristic of this disorder. © 2011 John Wiley & Sons A/S.

  19. Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome.

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    Urioste, M; Visedo, G; Sanchís, A; Sentís, C; Villa, A; Ludeña, P; Hortigüela, J L; Martínez-Frías, M L; Fernández-Piqueras, J

    1994-01-01

    We have studied a girl, her sister and her mother who had a supernumerary marker chromosome in mosaicism. The marker was studied by cytogenetic methods and non-isotopic in situ hybridization with the single D22S9 DNA probe which maps to 22q11. The supernumerary chromosome was derived from a chromosome 22 and it did not present the same morphology in all the cells. At least 5 distinct types of the marker chromosome were detected and some of them were probably derived from each other (dynamic mosaicism). The proposita had an MCA pattern consistent with mild cat eye syndrome, while her sister and her mother had some of the manifestations described in this syndrome. A specific correlation could be established between phenotype and karyotype.

  20. Crouzon syndrome with multiple supernumerary teeth

    African Journals Online (AJOL)

    2016-04-26

    Apr 26, 2016 ... Fries PD, Katowitz JA. Congenital craniofacial anomalies of ophthalmic importance. Surv Ophthalmol 1990;35:87‑119. 2. Bowling EL, Burstein FD. Crouzon syndrome. Optometry 2006;77:217‑22. 3. Hlongwa P. Early orthodontic management of Crouzon syndrome: A case report. J Maxillofac Oral Surg 2009 ...

  1. Non-syndromic multiple supernumerary premolars: Clinicoradiographic report of five cases

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    Renu Tanwar

    2017-03-01

    Full Text Available Hyperdontia or supernumerary teeth in both arches without any syndromic manifestation are extremely rare. Supernumerary teeth are commonly associated with Gardner’s syndrome, cleft lip and palate, cleidocranial dysplasia and trichorhinopha-langeal syndrome. Five cases of non-syndromic multiple premolars of maxillary and mandibular arches in Indian patients are presented here. This case series reports three cases with multiple (9 in maximum, bilaterally impacted and erupted supernumerary teeth and two cases with supernumerary premolars in non-syndromic cases from Indian patients. Supernumerary teeth can be present in any region of the oral cavity. Although the occurrence of maxillary para-premolars is rare, radio-logical investigations play a major and decisive role in determining the management of such cases.

  2. Non-syndromic multiple supernumerary premolars: Clinicoradiographic report of five cases

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    Tanwar, Renu; Jaitly, Vipul; Sharma, Aadya; Heralgi, Rashmi; Ghangas, Munish; Bhagat, Ankur

    2017-01-01

    Hyperdontia or supernumerary teeth in both arches without any syndromic manifestation are extremely rare. Supernumerary teeth are commonly associated with Gardner’s syndrome, cleft lip and palate, cleidocranial dysplasia and trichorhinopha-langeal syndrome. Five cases of non-syndromic multiple premolars of maxillary and mandibular arches in Indian patients are presented here. This case series reports three cases with multiple (9 in maximum), bilaterally impacted and erupted supernumerary teeth and two cases with supernumerary premolars in non-syndromic cases from Indian patients. Supernumerary teeth can be present in any region of the oral cavity. Although the occurrence of maxillary para-premolars is rare, radio-logical investigations play a major and decisive role in determining the management of such cases. PMID:28413596

  3. Report of a case with 19 supernumerary teeth in a non-syndromic patient

    OpenAIRE

    Yan, Lei; Yu, Long Wang; Bhandari, Kishor; Shan, Chang Li

    2014-01-01

    Supernumerary teeth occur frequently in human dentition, but presence of multiple supernumerary teeth in patients without any associated syndrome or systemic disorder is a rare phenomenon. Presence of supernumerary teeth in itself is not a problem and may not require removal in all cases but in certain conditions, they may be associated with several clinical complications and require removal. Here, we present a 14 year old female who complained of non emergence of permanent teeth. Orthopantom...

  4. Mesiodens with an unusual morphology and multiple impacted supernumerary teeth in a non-syndromic patient.

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    Srivatsan, Pavithra; Aravindha Babu, N

    2007-01-01

    Supernumerary teeth are a relatively frequent disorder of odontogenesis characterized by an excess number of teeth. Mesiodens is the most common type of supernumerary tooth found in the premaxilla between the two central incisors. They can be supplemental (resembling natural teeth), conical, tuberculate or molariform. We present the case of a 19 year-old girl who presented with a mesiodens of an unusual morphology and multiple impacted supernumerary teeth not associated with any syndrome.

  5. Mesiodens with an unusual morphology and multiple impacted supernumerary teeth in a non-syndromic patient

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    Srivatsan Pavithra

    2007-01-01

    Full Text Available Supernumerary teeth are a relatively frequent disorder of odontogenesis characterized by an excess number of teeth. Mesiodens is the most common type of supernumerary tooth found in the premaxilla between the two central incisors. They can be supplemental (resembling natural teeth, conical, tuberculate or molariform. We present the case of a 19 year-old girl who presented with a mesiodens of an unusual morphology and multiple impacted supernumerary teeth not associated with any syndrome.

  6. Characteristics and prevalence of non-syndrome multiple supernumerary teeth: a retrospective study.

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    Açikgöz, A; Açikgöz, G; Tunga, U; Otan, F

    2006-05-01

    The goal of this study was to evaluate the radiological and clinical findings of non-syndromic multiple (five or more) supernumerary teeth in patients radiographically examined between 1999 and 2004. Among 9550 patients, 251 cases of supernumerary teeth were found, including six cases of multiple supernumerary teeth. Patients with multiple supernumerary teeth were evaluated for age, sex, unilateral or bilateral distribution of the teeth, localization, morphology and complications or associated pathologies such as dentigerous cysts, eruption anomalies, resorption of adjacent teeth, displacement of tooth germ, malformation, migration, neurological symptoms, and secondary and periapical infections. All patients were male and most of the multiple supernumerary teeth were seen in the premolar region. The prevalence of multiple supernumerary teeth was 0.06%. Out of 37 multiple supernumerary teeth examined, 30 were impacted. Various associated anomalies were seen in 21.6% of cases. Although the mean age was high (23.1 years), no pathologies such as root resorption on adjacent teeth or cystic formation were observed, in contradiction of previous studies. In agreement with previous studies, the majority of supernumerary teeth were seen in the lower premolar region. That all patients with multiple supernumerary teeth were male and that most of these teeth were impacted was also in agreement with previous studies. The order of location frequency in previous studies has been premolar-molar-anterior; we found the order to be premolar-anterior with no supernumerary molar teeth observed. It was also interesting that no serious pathological findings were recorded.

  7. Genetics and presence of non-syndromic supernumerary teeth: A mystery case report and review of literature

    OpenAIRE

    Khambete, Neha; Kumar, Rahul

    2012-01-01

    Presence of supernumerary teeth is well-recognized clinical phenomenon. However, it is uncommon to find multiple supernumeraries in individuals with no other associated disease or syndrome. Presence of multiple supernumerary teeth is thought to have genetic component. We report a rare case where multiple supernumerary teeth were seen without presence of any other syndrome in 3 generations; father, son, and two grandsons. We also present a review of similar cases published in literature till d...

  8. Prevalence and characteristics of supernumerary teeth in a non-syndromic South Indian pediatric population.

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    Anegundi, Rajesh T; Tegginmani, Veeresh S; Battepati, Prashant; Tavargeri, Anand; Patil, Shruthi; Trasad, Vijay; Jain, Garima

    2014-01-01

    Supernumerary teeth are one of the most widely reported and significant anomaly in patients affecting the primary and early mixed dentition. To describe the distribution and characteristics of the supernumerary teeth in South Indian population of paediatric patients. In a 12 year retrospective study, a total of 63,569 patients up to the age of 14 years who visited our department between June 2003 and May 2013 were revised.790 cases of supernumerary teeth were found. Patients were evaluated for age, sex, site, status of dentition, number, position, orientation and type of supernumerary teeth. Statistical analysis was carried out using chi square test. 790 subjects with supernumerary teeth (481 males and 309 females) were detected, revealing male-female ratio of 1.55:1.The most common supernumerary teeth were mesiodens (82.28%), the most common site was the anterior maxilla (92.53%)region. Majority of patients had a single erupted supernumerary oriented straight in the arch. Patients in mixed dentition stage reported with maximum number of supernumerary teeth. The prevalence of supernumerary teeth in non syndromic South Indian paediatric population is 1.24% with slight male predilection and conical mesiodens being the commonest.

  9. Prevalence and characteristics of supernumerary teeth in a non-syndromic South Indian pediatric population

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    Rajesh T Anegundi

    2014-01-01

    Full Text Available Background: Supernumerary teeth are one of the most widely reported and significant anomaly in patients affecting the primary and early mixed dentition. Aim: To describe the distribution and characteristics of the supernumerary teeth in South Indian population of paediatric patients. Design: In a 12 year retrospective study, a total of 63,569 patients up to the age of 14 years who visited our department between June 2003 and May 2013 were revised.790 cases of supernumerary teeth were found. Patients were evaluated for age, sex, site, status of dentition, number, position, orientation and type of supernumerary teeth. Statistical analysis was carried out using chi square test. Results: 790 subjects with supernumerary teeth (481 males and 309 females were detected, revealing male-female ratio of 1.55:1.The most common supernumerary teeth were mesiodens (82.28%, the most common site was the anterior maxilla (92.53%region. Majority of patients had a single erupted supernumerary oriented straight in the arch. Patients in mixed dentition stage reported with maximum number of supernumerary teeth. Conclusions: The prevalence of supernumerary teeth in non syndromicSouth Indian paediatric population is 1.24% with slight male predilection and conical mesiodens being the commonest.

  10. Supernumerary ring chromosome: an etiology for Pallister-Killian syndrome?

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    Lloveras, E; Canellas, A; Cirigliano, V; Català, V; Cerdan, C; Plaja, A

    2013-01-01

    Characterization of marker chromosomes before the introduction of array CGH (aCGH) assays was only based on their banding patterns (G, C, and NOR staining) and fluorescent in situ hybridization techniques. The use of aCGH greatly improves the identification of marker chromosomes in some cases. We describe an atypical case of Pallister-Killian syndrome (PKS) detected at prenatal diagnosis with a very unusual cytogenetic presentation: a supernumerary ring chromosome including two copies of 12p. A similar anomaly described in a postnatal patient suggests ring chromosome as a possible cause of PKS. Extra ring chromosomes might be a more common etiology for PKS than previously thought, given the difficulty in their characterization before the advent of aCGH. Copyright © 2013 S. Karger AG, Basel.

  11. Genetics and presence of non-syndromic supernumerary teeth: A mystery case report and review of literature.

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    Khambete, Neha; Kumar, Rahul

    2012-10-01

    Presence of supernumerary teeth is well-recognized clinical phenomenon. However, it is uncommon to find multiple supernumeraries in individuals with no other associated disease or syndrome. Presence of multiple supernumerary teeth is thought to have genetic component. We report a rare case where multiple supernumerary teeth were seen without presence of any other syndrome in 3 generations; father, son, and two grandsons. We also present a review of similar cases published in literature till date. The role of genetics in development of supernumerary teeth is highlighted.

  12. Genetics and presence of non-syndromic supernumerary teeth: A mystery case report and review of literature

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    Neha Khambete

    2012-01-01

    Full Text Available Presence of supernumerary teeth is well-recognized clinical phenomenon. However, it is uncommon to find multiple supernumeraries in individuals with no other associated disease or syndrome. Presence of multiple supernumerary teeth is thought to have genetic component. We report a rare case where multiple supernumerary teeth were seen without presence of any other syndrome in 3 generations; father, son, and two grandsons. We also present a review of similar cases published in literature till date. The role of genetics in development of supernumerary teeth is highlighted.

  13. Non-syndromic multiple supernumerary teeth among patients seen ...

    African Journals Online (AJOL)

    Background: The global prevalence of multiple supernumerary teeth for permanent and primary dentition in various populations is between 0.05- 5.3% and 0.2-0.8%. A previous study in Nigeria reported a very low prevalence of multiple supernumeraries. Aim: To ascertain any variation in the prevalence and presentation of ...

  14. Multiple supernumerary teeth not associated with complex syndromes: a retrospective study.

    Science.gov (United States)

    Yagüe-García, José; Berini-Aytés, Leonardo; Gay-Escoda, Cosme

    2009-07-01

    To determine the epidemiology and describe the clinical and radiographic characteristics, the type of treatment, and the possible delayed appearance of new supernumerary teeth in patients with non-syndromic multiple hyperdontia. We conducted a small retrospective observational study of 8 patients diagnosed with non-syndromic multiple hyperodontia. Multiple hyperdontia not associated to complex syndromes was defined as apparently generally healthy patients with one or more supernumerary teeth in two or more areas. The average patient age was 16.23 years; males predominated (3:1). Multiple hyperodontia with a minimum of 2 and a maximum of 9 supernumerary teeth was found (total: 34 mean: 4.25). The most frequent location was the upper jaw (76.47%). Eumorphic teeth were seen at lower premolar level, while the rest were all heteromorphic. There was altered eruption of the contiguous teeth of 4 of the impacted supernumerary teeth all the rest being asymptomatic. Extraction was the treatment in all patients, and in one of them the delayed appearance of 4 supernumerary teeth was detected. Multiple hyperodontia rarely occurs without being associated with complex syndromes. Prophylactic surgical removal of the supernumerary teeth is generally the treatment of choice.

  15. Sequential supernumerary teeth development in a non-syndromic patient; report of a rare case.

    Science.gov (United States)

    Jafarian, Mohammad; Nazemi, Bahareh; Bargrizan, Majid; Ramezani, Jamileh; Ansari, Ghassem

    2013-11-01

    Isolated impacted supernumerary teeth are quite rare, but they can be seen associated with several syndromes such as cleidocranial dysostosis or Gardner's syndrome. This article aims to discuss a case of sequential formation of supernumerary teeth with no other associated disease or syndrome. A 17-year-old Iranian male with 8 impacted supernumerary teeth was referred to the department of pediatric dental clinic at Shahid Beheshti Medical University in Tehran with a history of several impacted unerupted teeth. Repeated and periodical clinical and radiographic examinations revealed newly formed teeth buds in unusual dental ages. All extra teeth were associated with generalized enamel hypoplasia to some degree on their relative permanent adjacent teeth. The patient did not have any record of a systemic disease or any syndromic condition to relate his dental problem to. This rare condition involved repeated and continued formation of extra teeth out of the normal numbers and dental age evident in serial radiographs.

  16. Sequential supernumerary teeth development in a non-syndromic patient; report of a rare case.

    Directory of Open Access Journals (Sweden)

    Mohammad Jafarian

    2013-12-01

    Full Text Available Isolated impacted supernumerary teeth are quite rare, but they can be seen associated with several syndromes such as cleidocranial dysostosis or Gardner's syndrome. This article aims to discuss a case of sequential formation of supernumerary teeth with no other associated disease or syndrome. A 17-year-old Iranian male with 8 impacted supernumerary teeth was referred to the department of pediatric dental clinic at Shahid Beheshti Medical University in Tehran with a history of several impacted unerupted teeth. Repeated and periodical clinical and radiographic examinations revealed newly formed teeth buds in unusual dental ages. All extra teeth were associated with generalized enamel hypoplasia to some degree on their relative permanent adjacent teeth. The patient did not have any record of a systemic disease or any syndromic condition to relate his dental problem to. This rare condition involved repeated and continued formation of extra teeth out of the normal numbers and dental age evident in serial radiographs.

  17. Multiple Supernumerary Teeth in a Non-Syndromic Patient: A Case Report

    Directory of Open Access Journals (Sweden)

    Majid Eshgh Pour

    2013-01-01

    Full Text Available Introduction: Multiple supernumerary teeth are a rare phenomenon. It occurs more often in patients with syndromes such as Gardner's syndrome, cleidocranial dysplasia and so on. This phenomenon in absence of such syndromes is rare. The purpose of this report was to introduce a case of non-syndromic multiple supernumerary impacted teeth.Case Report: A 29-year-old woman with no skeletal, metabolic, systemic and mental disorder was referred to oral and maxillofacial department of Mashhad dental school. In clinical evaluation, seven Permanent teeth were missing. In radiographic evaluation, there were a total of 15 impacted teeth which 7 of them were supernumerary.Conclusion: Missing or Excess of one or more teeth usually leads to occlusal and functional problems. In these cases, a complete clinical and radiographic examination accompanieal by a precise history should be performed to plan a suitable surgical-orthodontic-prosthetic treatment.

  18. Non-syndromic multiple supernumerary teeth in permanent dentition: a rare phenomenon

    Science.gov (United States)

    Yadav, Rakesh Kumar; Rao, Jitendra; Yadav, Lakhya; Hasija, Mukesh

    2013-01-01

    Hyperdontia or supernumerary teeth in the absence of associated systemic condition or syndrome is an uncommon phenomenon. Non-syndromic supernumerary teeth need to have periodical radiographic observation. In the case of asymptomatic condition, as they impacted in the jaw, a careful examination is necessary because they may develop into pathological status such as dentigerous cysts. Surgical removal of such teeth is indicated if evidence of any pathologies, such as cystic lesion, resorption, delayed eruption, altered eruption and displacement of adjacent teeth, is evident or have occurred. PMID:23704431

  19. Absence of lambda immunoglobulin sequences on the supernumerary chromosome of the "cat eye" syndrome.

    Science.gov (United States)

    Hough, C A; White, B N; Holden, J J

    1995-09-11

    The supernumerary bisatellited chromosome causing the "cat eye" syndrome (CES) is of chromosome 22 origin and consists of an inverted duplication of the 22pter-->22q11.2 region. To determine the extent of involvement of band q11.2 on the bisatellited chromosome, copy number assessment of sequences homologous to cloned lambda immunoglobulin (lambda Ig) gene region probes was carried out on DNA from individuals with CES using densitometric analysis of Southern blots. None of the 10 lambda Ig sequences studied was found in increased copy number in DNA from any of the 10 CES individuals tested, indicating that these sequences are not present on the supernumerary chromosome. The breakpoints involved in the generation of the bisatellited supernumerary chromosome associated with CES are therefore proximal to the lambda Ig gene region.

  20. Multiple supernumerary teeth without any associated systemic condition or syndrome: a case report.

    Science.gov (United States)

    Baysan, Aylin; Djemal, Serpil

    2011-10-01

    A 49-year-old Black African male, originally of Nigerian origin, was referred by his dentist regarding a bad taste in the mouth. He was seen in a general restorative clinic at Barts and the London NHS Trust. Clinical examination did not reveal any relevant abnormalities. A panoramic tomography, however, showed the presence of multiple supernumerary teeth, which were located in the maxillary right and left premolar and molar regions, and the mandibular left premolar region. The family's history was non-contributory. The patient was unaware of the supernumerary teeth and, as far as he knew, there were no other members of his family with a similar problem. A decision regarding the appropriate management of supernumerary teeth should be considered carefully since surgical removal of the teeth may cause damage to adjacent structures, including bone. In this respect, it is interesting and rare to find multiple supernumerary teeth in individuals with no other associated diseases or syndromes elucidated by clinical and historical enquiry.

  1. A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15.

    Science.gov (United States)

    Quinonez, Shane C; Gelehrter, Thomas D; Uhlmann, Wendy R

    2017-01-01

    Small supernumerary marker chromosomes (sSMC) are abnormal chromosomes that cannot be characterized by standard banding cytogenetic techniques. A minority of sSMC contain a neocentromere, which is an ectopic centromere lacking the characteristic alpha-satellite DNA. The phenotypic manifestations of sSMC and neocentromeric sSMC are variable and range from severe intellectual disability and multiple congenital anomalies to a normal phenotype. Here we report a patient with a diagnosis of Marfan syndrome and infertility found to have an abnormal karyotype consisting of a chromosome 15 deletion and a ring-type sSMC likely stabilized by a neocentromere derived via a mechanism initially described by Barbara McClintock in 1938. Analysis of the sSMC identified that it contained the deleted chromosome 15 material and also one copy of FBN1, the gene responsible for Marfan syndrome. We propose that the patient's diagnosis arose from disruption of the FBN1 allele on the sSMC. To date, a total of 29 patients have been reported with an sSMC derived from a chromosomal deletion. We review these cases with a specific focus on the resultant phenotypes and note significant difference between this class of sSMC and other types of sSMC. Through this review we also identified a patient with a clinical diagnosis of neurofibromatosis type 1 who lacked a family history of the condition but was found to have a chromosome 17-derived sSMC that likely contained NF1 and caused the patient's disorder. We also review the genetic counseling implications and recommendations for a patient or family harboring an sSMC. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  2. Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region.

    Science.gov (United States)

    Mears, A J; el-Shanti, H; Murray, J C; McDermid, H E; Patil, S R

    1995-09-01

    Cat eye syndrome (CES) is typically associated with a supernumerary bisatellited marker chromosome (inv dup 22pter-22q11.2) resulting in four copies of this region. We describe an individual showing the inheritance of a minute supernumerary double ring chromosome 22, which resulted in expression of all cardinal features of CES. The size of the ring was determined by DNA dosage analysis and FISH analysis for five loci mapping to 22q11.2. The probes to the loci D22S9, D22S43, and ATP6E were present in four copies, whereas D22S57 and D22S181 were present in two copies. This finding further delineates the distal boundary of the critical region of CES, with ATP6E being the most distal duplicated locus identified. The phenotypically normal father and grandfather of the patient each had a small supernumerary ring chromosome and demonstrated three copies for the loci D22S9, D22S43, and ATP6E. Although three copies of this region have been reported in other cases with CES features, it is possible that the presence of four copies leads to greater susceptibility.

  3. Minute supernumerary ring chromosome 22 associated with cat eye syndrome: Further delineation of the critical region

    Energy Technology Data Exchange (ETDEWEB)

    Mears, A.J.; McDermid, H.E. [Univ. of Alberta, Edmonton (Canada); El-Shanti, H. [Jordan Univ. of Science and Technology, Irbid (Jordan)] [and others

    1995-09-01

    Cat eye syndrome (CES) is typically associated with a supernumerary bisatellited marker chromosome (inv dup 22pter-22q11.2) resulting in four copies of this region. We describe an individual showing the inheritance of a minute supernumerary double ring chromosome 22, which resulted in expression of all cardinal features of CES. The size of the ring was determined by DNA dosage analysis and FISH analysis for five loci mapping to 22q11.2. The probes to the loci D22S9, D22S43, and ATP6E were present in four copies, whereas D22S57 and D22S181 were present in two copies. This finding further delineates the distal boundary of the critical region of CES, with ATP6E being the most distal duplicated locus identified. The phenotypically normal father and grandfather of the patient each had a small supernumerary ring chromosome and demonstrated three copies for the loci D22S9, D22S43, and ATP6E. Although three copies of this region have been reported in other cases with CES features, it is possible that the presence of four copies leads to greater susceptibility. 35 refs., 4 figs., 2 tabs.

  4. Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.

    Science.gov (United States)

    Bélien, Valérie; Gérard-Blanluet, Marion; Serero, Stéphane; Le Dû, Nathalie; Baumann, Clarisse; Jacquemont, Marie-Line; Dupont, Céline; Krabchi, Kada; Drunat, Séverine; Elbez, Annie; Janaud, Jean-Claude; Benzacken, Brigitte; Verloes, Alain; Tabet, Anne-Claude; Aboura, Azzedine

    2008-07-15

    Small supernumerary marker chromosomes are present in about 0.05% of the human population. In approximately 28% of persons with these markers (excluding the approximately 60% derived from one of the acrocentric chromosomes), an abnormal phenotype is observed. We report on a 3-month-old girl with intrauterine growth retardation, craniofacial features, hypotonia, partial coloboma of iris and total anomalous pulmonary venous return. Cytogenetic analysis showed the presence of a supernumerary marker chromosome, identified by fluorescence in situ hybridization as part of chromosome 22, and conferring a proximal partial trisomy 22q22.21, not encompassing the DiGeorge critical region (RP11-154H4 + , TBX1-). This observation adds new information relevant to cat eye syndrome and partial trisomy of 22q. 2008 Wiley-Liss, Inc.

  5. Non-syndromic multiple impacted supernumerary teeth with peripheral giant cell granuloma

    Science.gov (United States)

    Bansal, Pankaj; Rohatgi, Sumidha; Agnihotri, Archana; Gupta, Ashish

    2011-01-01

    Peripheral giant cell granuloma (PGCG) is a relatively frequent benign reactive lesion of the gingiva, originating from the periosteum or periodontal membrane following local irritation or chronic trauma. PGCG manifests as a red-purple nodule located in the region of the gingiva or edentulous alveolar margins. The lesion can develop at any age, although it is more common between the second and third decades of life, and shows a slight female predilection. PGCG is a soft tissue lesion that very rarely affects the underlying bone, although the latter may suffer superficial erosion. A supernumerary tooth is one that is additional to the normal series and can be found in almost any region of the dental arch. These teeth may be single, multiple, erupted or unerupted and may or may not be associated with syndrome. Usually, they cause one or the other problem in eruption or alignment of teeth, but may also present without disturbing the normal occlusion or eruption pattern. Management of these teeth depends on the symptoms. Presented here is a case of PGCG in relation to the lower left permanent first molar with three supernumerary teeth in the mandibular arch but no associated syndrome. PMID:22114454

  6. Non-syndromic multiple impacted supernumerary teeth with peripheral giant cell granuloma

    Directory of Open Access Journals (Sweden)

    Pankaj Bansal

    2011-01-01

    Full Text Available Peripheral giant cell granuloma (PGCG is a relatively frequent benign reactive lesion of the gingiva, originating from the periosteum or periodontal membrane following local irritation or chronic trauma. PGCG manifests as a red-purple nodule located in the region of the gingiva or edentulous alveolar margins. The lesion can develop at any age, although it is more common between the second and third decades of life, and shows a slight female predilection. PGCG is a soft tissue lesion that very rarely affects the underlying bone, although the latter may suffer superficial erosion. A supernumerary tooth is one that is additional to the normal series and can be found in almost any region of the dental arch. These teeth may be single, multiple, erupted or unerupted and may or may not be associated with syndrome. Usually, they cause one or the other problem in eruption or alignment of teeth, but may also present without disturbing the normal occlusion or eruption pattern. Management of these teeth depends on the symptoms. Presented here is a case of PGCG in relation to the lower left permanent first molar with three supernumerary teeth in the mandibular arch but no associated syndrome.

  7. Multiple bilateral supernumerary mandibular premolars in a non-syndromic patient with associated orthokeratised odontogenic cyst- A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Vikrant O Kasat

    2012-01-01

    Full Text Available Multiple supernumerary teeth are very rare, accounting for less than 1% of cases. They are commonly associated with syndromes like Gardner′s syndrome and cleidocranial dysostosis and cleft lip and palate. Non-syndromic multiple supernumerary teeth have a predilection to occur in the mandibular premolar region. Orthokeratinized odontogenic cyst (OOC is a relatively uncommon developmental cyst comprising about 10% of the cases that had been previously implied as odontogenic keratocysts. More than half of the cases of OOC are associated with impacted tooth; but not a single case of OOC associated with supernumerary teeth is reported. Hence, the purpose of this article is to report the first case of multiple supernumerary mandibular premolars associated with OOC in a 35-year-old male and to review the literature associated with multiple bilateral supernumerary mandibular premolars.

  8. Absence of {lambda} immunoglobulin sequences on the supernumerary chromosome of the {open_quotes}cat eye{close_quotes} syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hough, C.A.; White, B.N.; Holden, J.J.A. [Queen`s Univ., Kingston, Ontario (Canada)

    1995-09-11

    The supernumerary bisatellited chromosome causing the {open_quotes}cat eye{close_quotes} syndrome (CES) is of chromosome 22 origin and consists of an inverted duplication of the 22pter{r_arrow}22q11.2 region. To determine the extent of involvement of band q11.2 on the bisatellited chromosome, copy number assessment of sequences homologous to cloned {lambda} immunoglobulin ({lambda} Ig) gene region probes was carried out on DNA from individuals with CES using densitometric analysis of Southern blots. None of the 10 {lambda} Ig sequences studied was found in increased copy number in DNA from any of the 10 CES individuals tested, indicating that these sequences are not present on the supernumerary chromosome. The breakpoints involved in the generation of the bisatellited supernumerary chromosome associated with CES are therefore proximal to the {lambda} Ig gene region. 20 refs., 1 fig., 3 tabs.

  9. Prevalence rate of supernumerary teeth among non-syndromic South Indian population: An analysis.

    Science.gov (United States)

    Mahabob, M Nazargi; Anbuselvan, G J; Kumar, B Senthil; Raja, S; Kothari, Sucitha

    2012-08-01

    Supernumerary teeth are considered as one of the most significant dental anomalies during the primary and early mixed dentition stage. The main objective of the study was to determine the prevalence rate of supernumerary teeth in the patients who reported to the Department of Oral Medicine and Radiology and to study the associated clinical complications. A longitudinal observational study was conducted of 2216 patients for a period of 4 months with the documentation of demographic data, the presence of supernumerary teeth, their location, and associated complications such as mechanical trauma, dental caries, and associated pathology. The study recorded 27 supernumerary teeth from the examined 2216 patients. This yields a prevalence of 1.2%, with greater frequency in males which was 1.49% and in females the frequency was 0.85%. The greatest proportion of supernumerary teeth was found in the maxillary anterior region (77.8%). Out of this, 85.7% were classified as mesiodens based on their location. The displacement of adjacent teeth was the most common finding, followed by dental caries. The prevalence of supernumerary teeth in this study was 1.2% which is in agreement with that reported in similar studies and the maxillary mesiodens was the most common location. Displacement of adjacent teeth was the most common finding.

  10. Prevalence rate of supernumerary teeth among non-syndromic South Indian population: An analysis

    Directory of Open Access Journals (Sweden)

    M Nazargi Mahabob

    2012-01-01

    Full Text Available Aim: Supernumerary teeth are considered as one of the most significant dental anomalies during the primary and early mixed dentition stage. The main objective of the study was to determine the prevalence rate of supernumerary teeth in the patients who reported to the Department of Oral Medicine and Radiology and to study the associated clinical complications. Materials and Methods: A longitudinal observational study was conducted of 2216 patients for a period of 4 months with the documentation of demographic data, the presence of supernumerary teeth, their location, and associated complications such as mechanical trauma, dental caries, and associated pathology. Results: The study recorded 27 supernumerary teeth from the examined 2216 patients. This yields a prevalence of 1.2%, with greater frequency in males which was 1.49% and in females the frequency was 0.85%. The greatest proportion of supernumerary teeth was found in the maxillary anterior region (77.8%. Out of this, 85.7% were classified as mesiodens based on their location. The displacement of adjacent teeth was the most common finding, followed by dental caries. Conclusion: The prevalence of supernumerary teeth in this study was 1.2% which is in agreement with that reported in similar studies and the maxillary mesiodens was the most common location. Displacement of adjacent teeth was the most common finding.

  11. Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome.

    Science.gov (United States)

    Ko, Jung Min; Kim, Jun Bum; Pai, Ki Soo; Yun, Jun-No; Park, Sang-Jin

    2010-12-01

    The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES is quite rare, and there has been no report of Korean CES cases with molecular cytogenetic confirmation. In this study, we present the phenotypic and genetic characteristics of a 3-month-old boy with CES. Clinical findings included micropthalmia, multiple colobomata, and renal and genital anomalies. Cytogenetic analyses showed the presence of a supernumerary marker chromosome, which was identified as a bisatellited and isodicentric chromosome derived from an acrocentric chromosome. The results of array comparative genomic hybridization and fluorescence in situ hybridization studies confirmed the karyotype as 47,XY,+mar.ish idic(22)(q11.1) (D22S43+).arr 22q11.1(15,500,000-15,900,000)x4, resulting in a partial tetrasomy of 22q11.1. To the best of our knowledge, this is the first report in Korea of CES confirmed by cytogenetic and molecular cytogenetic analyses.

  12. Retrospective study of 145 supernumerary teeth.

    Science.gov (United States)

    Fernández Montenegro, Paula; Valmaseda Castellón, Eduard; Berini Aytés, Leonardo; Gay Escoda, Cosme

    2006-07-01

    The goal of the present retrospective study is to describe the distribution of the supernumerary teeth in a population of patients that have been attended at the Public Clinic of the Department of Oral Surgery. Supernumerary teeth and multiple hyperdontia are usually associated with different syndromes, such as Gardner syndrome, or with facial fissures; however, they can appear in patients without any pathology. Their prevalence oscillates to 0.5-3.8% in patients with permanent teeth and to 0.35-0.6% in patients with primary teeth. A total of 36,057 clinical histories of patients that were admitted at the clinic between September of 1991 and March of 2003 were revised. The following data were extrapolated: age, sex, number of extracted supernumerary teeth, localization, morphology and type of supernumerary teeth. Consequently, 102 patients were included into the present study. Of the 147 supernumerary teeth identified in the oral cavities of patients 145 were extracted. The most frequent supernumerary teeth identified were mesiodens (46.9%), followed by premolars (24.1%) and fourth molars or distal molars (18%). As for location, 74.5% of the supernumerary teeth were found in the superior maxillary bone and 46.9% of the supernumerary teeth were present in the palatine/lingual area. Heteromorphology was found in two thirds of the supernumerary teeth, with conical shape being the most frequent. Finally, 29.7% of the supernumerary teeth had occlusion with permanent teeth, and mesiodens were the predominating type of supernumerary teeth that showed this feature. Mesiodens very frequently cause retention of permanent incisors, which erupt spontaneously after the extraction of supernumerary teeth, if there is sufficient space in the dental arch and if they conserve the eruptive force. Generally, supernumerary premolars are eumorphic and are casually discovered during radiological exam, if not producing any symptomology.

  13. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 11.

    Science.gov (United States)

    Chen, Chih-Ping; Chen, Ming; Wang, Pu-Tsui; Chern, Schu-Rern; Chen, Shin-Wen; Lai, Shih-Ting; Wu, Peih-Shan; Chang, Shun-Ping; Pan, Chen-Wen; Wang, Wayseen

    2017-06-01

    We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 11. A 37-year-old, gravida 3, para 2, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar[18]/46,XX[4]. The parental karyotypes were normal. Level II ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) on the DNA extracted from cultured amniocytes revealed no genomic imbalance. The sSMC was characterized by spectral karyotyping (SKY) using 24-color SKY probes and fluorescence in situ hybridization (FISH) using a whole chromosome paint (wcp) probe and a CEP11 (D11Z1) probe. The result was 47,XX,+mar.ish(11)(SKY+, wcp11+, D11Z1+)[16]/46,XX[4], indicating that the sSMC was derived from chromosome 11. A healthy female baby was delivered at 37 weeks of gestation with no phenotypic abnormalities. The cord blood had a karyotype of 47,XX,+mar[32]/46,XX[8]. Polymorphic DNA marker analysis of the blood excluded uniparental disomy 11. The female infant was normal in growth and psychomotor development during follow-ups at two months of age. aCGH, SKY and FISH are useful in prenatal diagnosis of an sSMC derived from the centromeric region of a non-acrocentric chromosome. Copyright © 2017. Published by Elsevier B.V.

  14. Non-syndromic multiple supernumerary teeth: report of a case with 13 supplemental teeth

    Science.gov (United States)

    Ansari, Afroz Alam; Malhotra, Seema; Pandey, Ramesh Kumar; Bharti, Kusum

    2013-01-01

    The presence of supernumerary teeth (STs) may give rise to a variety of clinical problems. These include failure of a tooth to erupt, delayed eruption, ectopic eruption, diastema, rotation of adjacent teeth, displacement of teeth and crowding. This case describes a 14-year-old male patient who presented with the complaint of pain in the left mandibular posterior region. Intraoral examination revealed the presence of carious retained deciduous second molar in this region. An orthopantomogram was advised which ‘initially’ revealed 11 STs, positioned in all four quadrants in posterior regions. Two more STs were detected in the following investigations totalling 13. Dental literature rarely reports presence of STs in such a large number. The objective of this case is to report detection of STs, radiographic examination, extraction of the retained deciduous molars and STs in the mandible to facilitate eruption of mandibular premolars. PMID:23470670

  15. Prevalence and characteristics of supernumerary teeth in a non-syndrome Turkish population: associated pathologies and proposed treatment.

    Science.gov (United States)

    Celikoglu, Mevlut; Kamak, Hasan; Oktay, Hüsamettin

    2010-07-01

    The objectives of the present study were to investigate the prevalence and characteristics of supernumerary teeth and evaluate the associated pathologies and treatment protocol in a Turkish patient population. A retrospective study was performed using full-mouth periapical and panoramic radiographs of 3491 patients (2146 females and 1345 males) ranging in age from 12 to 25. For each patient with supernumerary teeth we recorded the demographic variables (including age, sex), number, location, position, type, and morphology of supernumerary teeth, associated pathologies or complications, and whether any treatment has been carried out. The Pearson chi-squared test was used to determine potential differences in the distribution of supernumerary teeth when stratified by gender. Supernumerary teeth were detected in 42 subjects (1.2%), of which 27 were males and 15 were females with a 1.8:1 male female ratio (psupernumerary teeth were mesiodens (31.3%) followed by premolar (25.0%), lateral (22.9%), distomolar (14.5%), paramolar (4.2%), and canine (2.1%). Of the 48 supernumerary teeth examined, 50.0% (n=24) were conical, 81.3% (n=39) were in a vertical position, and 20.8% (n=10) were erupted. Supernumerary teeth caused rotation or displacement of the adjacent teeth in 14 cases, and the impaction of the permanent teeth in 8 cases. The prevalence of supernumerary teeth in our series was found to be 1.2%, the most frequent type being mesiodens. Rotation or displacement of permanent teeth was the most frequent complication caused by supernumerary teeth.

  16. The epidemiology of supernumerary teeth and the associated molecular mechanism.

    Science.gov (United States)

    Lu, Xi; Yu, Fang; Liu, Junjun; Cai, Wenping; Zhao, Yumei; Zhao, Shouliang; Liu, Shangfeng

    2017-07-03

    Supernumerary teeth are common clinical dental anomalies. Although various studies have provided abundant information regarding genes and signaling pathways involved in tooth morphogenesis, which include Wnt, FGF, BMP, and Shh, the molecular mechanism of tooth formation, especially for supernumerary teeth, is still unclear. In the population, some cases of supernumerary teeth are sporadic, while others are syndrome-related with familial hereditary. The prompt and accurate diagnosis of syndrome related supernumerary teeth is quite important for some distinctive disorders. Mice are the most commonly used model system for investigating supernumerary teeth. The upregulation of Wnt and Shh signaling in the dental epithelium results in the formation of multiple supernumerary teeth in mice. Understanding the molecular mechanism of supernumerary teeth is also a component of understanding tooth formation in general and provides clinical guidance for early diagnosis and treatment in the future.

  17. Derivation and characterisation of hESC lines from supernumerary embryos, experience from Odense, Denmark

    DEFF Research Database (Denmark)

    Harkness, Linda; Rasmussen, Iben Anne; Erb, Karin

    2010-01-01

    The derivation and characterisation of human embryonic stem cells provides a source of pluripotent stem cells with potential for clinical applications. Utilising locally sourced embryos from two IVF clinics, we derived and characterised five new cell lines for use in a non-clinical setting. Analy...

  18. X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report.

    Science.gov (United States)

    Telepova, Alena S; Romanenko, Svetlana A; Lemskaya, Natalya A; Maksimova, Yulia V; Shorina, Asia R; Yudkin, Dmitry V

    2017-01-01

    Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the centromeric region of chromosome X. Additionally, we showed no telomeric sequences and no XIST sequence in the marker chromosome. This is the first report of these two syndromes accompanied by the presence of a marker chromosome. Marker chromosome was X-derived and originated from centromeric region. Patient has mild symptoms but there is no XIST gene in marker chromosome. CPG137. Registered 03 March 2017.

  19. Management of supernumerary teeth

    Science.gov (United States)

    Parolia, Abhishek; Kundabala, M; Dahal, Marisha; Mohan, Mandakini; Thomas, Manuel S

    2011-01-01

    Supernumerary paramolars are the rare anomalies of the maxillofacial complex. These are more common in the maxilla than in the mandible. This article reviews the etiology, frequency, classification, complications, diagnosis and management of supernumerary teeth (bilateral maxillary paramolars) PMID:22025821

  20. Management of supernumerary teeth.

    Science.gov (United States)

    Parolia, Abhishek; Kundabala, M; Dahal, Marisha; Mohan, Mandakini; Thomas, Manuel S

    2011-07-01

    Supernumerary paramolars are the rare anomalies of the maxillofacial complex. These are more common in the maxilla than in the mandible. This article reviews the etiology, frequency, classification, complications, diagnosis and management of supernumerary teeth (bilateral maxillary paramolars).

  1. Supernumerary teeth in Indian children: a survey of 300 cases.

    Science.gov (United States)

    Sharma, Amita; Singh, Varun Pratap

    2012-01-01

    The aim of this investigation was to study children with supernumerary teeth who visited the Department of Pedodontics and Preventive Dentistry, Government Dental College and Hospital, Rohtak, Haryana, India. Only children with supernumerary teeth were included in the study while patients having supernumerary teeth with associated syndromes were excluded. Supernumeraries were detected by clinical and radiographic examination. The results indicated that males were affected more than females with a sex ratio of 2.9 : 1. Single supernumerary tooth was seen in 79% of the patients, 20% had double, and 1% had three or more supernumeraries. Premaxillary supernumeraries accounted for 93.8% of the cases. Conical shaped supernumerary teeth were the most common type (59.7%). Majority of supernumeraries remained unerupted (65%). Fusion of supernumerary tooth with a regular tooth was observed in 4% of the patients. Talon cusp, an associated dental anomaly, was seen in 5% of the cases. Simultaneous hypodontia occurred in 2.3% of patients with supernumeraries.

  2. Supernumerary Teeth in Indian Children: A Survey of 300 Cases

    Directory of Open Access Journals (Sweden)

    Amita Sharma

    2012-01-01

    Full Text Available The aim of this investigation was to study children with supernumerary teeth who visited the Department of Pedodontics and Preventive Dentistry, Government Dental College and Hospital, Rohtak, Haryana, India. Only children with supernumerary teeth were included in the study while patients having supernumerary teeth with associated syndromes were excluded. Supernumeraries were detected by clinical and radiographic examination. The results indicated that males were affected more than females with a sex ratio of 2.9 : 1. Single supernumerary tooth was seen in 79% of the patients, 20% had double, and 1% had three or more supernumeraries. Premaxillary supernumeraries accounted for 93.8% of the cases. Conical shaped supernumerary teeth were the most common type (59.7%. Majority of supernumeraries remained unerupted (65%. Fusion of supernumerary tooth with a regular tooth was observed in 4% of the patients. Talon cusp, an associated dental anomaly, was seen in 5% of the cases. Simultaneous hypodontia occurred in 2.3% of patients with supernumeraries.

  3. Study of the frequency, localisation and morphology of supernumerary teeth in 1960 Spanish non-syndromic paediatric patients.

    Science.gov (United States)

    Ferrés-Amat, E; Maura-Solivellas, I; Prats-Armengol, J; Ferrés-Amat, E; Mareque-Bueno, J; Ferrés-Padró, E

    2015-03-01

    The main objective was to study supernumerary teeth diagnosed during the routine checkups at the Paediatric Dentistry Service of Hospital de Nens, Barcelona (Spain), for four months. A transversal, descriptive study, was performed in 1,960 patients, aged 1 to 17 years, visited during routine oral checkups. An intraoral exploration (with intraoral mirror and probe) was performed to all patients, and subjects older than 5 years also underwent panoramic x-ray examination. A total of 33 patients showed supernumerary teeth (1.68%), 22 boys and 11 girls. A total of 10 patients (8 boys/2 girls) had supernumerary teeth in the temporary dentition, 20 patients (12 boys/8 girls) in the permanent dentition and 3 patients (2 boys/1girls) in both temporary and permanent dentition. A total of 46 supernumerary teeth were diagnosed. Any alteration in the number of teeth in patients younger than 5 years are difficult to diagnose, as x-rays are usually not taken. We believe that starting at 5 years old, a radiological exploration (panoramic x-ray) has to be carried out as a complement to the clinical examination.

  4. Genetic background of supernumerary teeth.

    Science.gov (United States)

    Subasioglu, Asli; Savas, Selcuk; Kucukyilmaz, Ebru; Kesim, Servet; Yagci, Ahmet; Dundar, Munis

    2015-01-01

    Supernumerary teeth (ST) are odontostomatologic anomaly characterized by as the existence excessive number of teeth in relation to the normal dental formula. This condition is commonly seen with several congenital genetic disorders such as Gardner's syndrome, cleidocranial dysostosis and cleft lip and palate. Less common syndromes that are associated with ST are; Fabry Disease, Ellis-van Creveld syndrome, Nance-Horan syndrome, Rubinstein-Taybi Syndrome and Trico-Rhino-Phalangeal syndrome. ST can be an important component of a distinctive disorder and an important clue for early diagnosis. Certainly early detecting the abnormalities gives us to make correct management of the patient and also it is important for making well-informed decisions about long-term medical care and treatment. In this review, the genetic syndromes that are related with ST were discussed.

  5. Whole-exome sequencing analysis of supernumerary teeth occurrence in Japanese individuals.

    Science.gov (United States)

    Takahashi, Masahiro; Hosomichi, Kazuyoshi; Yamaguchi, Tetsutaro; Yano, Keisuke; Funatsu, Takahiro; Adel, Mohamed; Haga, Shugo; Maki, Koutaro; Tajima, Atsushi

    2017-01-01

    A common disorder of human dentition is the existence of supernumerary teeth. Impacted supernumerary teeth occur most frequently in the maxillary incisor area and are termed mesiodens. We conducted whole-exome sequencing of non-syndromic Japanese individuals possessing supernumerary teeth to identify genes and/or loci involved in the pathogenesis of the condition.

  6. Bilateral tuberculate supernumerary teeth.

    Science.gov (United States)

    Eigbobo, Joycelyn Odegua; Osagbemiro, Babatope Bamidele

    2011-05-16

    Supernumerary teeth are teeth in excess of the normal series occurring in any region of the dental arch. They are located mostly in the anterior maxillary region and are classified according to their location and morphology. The tuberculate type of supernumerary tooth possesses more than one cusp or tubercle (barrel shaped). It is rare to find bilateral tuberculate supernumerary teeth in the premaxillary region and when found they rarely erupt. This report describes a 13-year-old boy with erupted palatally placed bilateral tuberculate supernumerary teeth. The presence of these supernumerary teeth led to the labial displacement and rotations of the anterior maxillary teeth. The treatment involved extraction of the supernumerary teeth and a referral for orthodontic management of the crowding, displacement and rotations. The occurrence of erupted palatally placed tuberculate anterior teeth in this case is a rare experience. However, the associated orthodontic problems are within familiar spectrum.

  7. Fibroadenoma in supernumerary breast.

    Science.gov (United States)

    Eroglu, A

    2007-01-01

    The presence of supernumerary breast (or polymastia) is not uncommon; however, reports of fibroadenoma in supernumerary breast tissue are rare. The present article reports a case of fibroadenoma developing in the supernumerary breast located below the normal left pectoral breast in a 26-year-old woman. Clinical and ultrasonographic examination of both pectoral breasts revealed no abnormalities but a mass was found in the third breast. The patient underwent resection of the supernumerary breast and the histopathological examination showed an intracanalicular type of fibroadenoma within the breast tissue.

  8. A novel mutation of adenomatous polyposis coli (APC) gene results in the formation of supernumerary teeth.

    Science.gov (United States)

    Yu, Fang; Cai, Wenping; Jiang, Beizhan; Xu, Laijun; Liu, Shangfeng; Zhao, Shouliang

    2018-01-01

    Supernumerary teeth are teeth that are present in addition to normal teeth. Although several hypotheses and some molecular signalling pathways explain the formation of supernumerary teeth, but their exact disease pathogenesis is unknown. To study the molecular mechanisms of supernumerary tooth-related syndrome (Gardner syndrome), a deeper understanding of the aetiology of supernumerary teeth and the associated syndrome is needed, with the goal of inhibiting disease inheritance via prenatal diagnosis. We recruited a Chinese family with Gardner syndrome. Haematoxylin and eosin staining of supernumerary teeth and colonic polyp lesion biopsies revealed that these patients exhibited significant pathological characteristics. APC gene mutations were detected by PCR and direct sequencing. We revealed the pathological pathway involved in human supernumerary tooth development and the mouse tooth germ development expression profile by RNA sequencing (RNA-seq). Sequencing analysis revealed that an APC gene mutation in exon 15, namely 4292-4293-Del GA, caused Gardner syndrome in this family. This mutation not only initiated the various manifestations typical of Gardner syndrome but also resulted in odontoma and supernumerary teeth in this case. Furthermore, RNA-seq analysis of human supernumerary teeth suggests that the APC gene is the key gene involved in the development of supernumerary teeth in humans. The mouse tooth germ development expression profile shows that the APC gene plays an important role in tooth germ development. We identified a new mutation in the APC gene that results in supernumerary teeth in association with Gardner syndrome. This information may shed light on the molecular pathogenesis of supernumerary teeth. Gene-based diagnosis and gene therapy for supernumerary teeth may become available in the future, and our study provides a high-resolution reference for treating other syndromes associated with supernumerary teeth. © 2017 The Authors. Journal of

  9. Supernumerary teeth in clinical practice

    OpenAIRE

    Anna K. Szkaradkiewicz; Tomasz M. Karpiński

    2011-01-01

    Introduction: Hyperdontia is the condition of having supernumerary teeth, or teeth which appear in addition to the regular number of teeth. The prevalence rates of supernumerary teeth in the permanent dentition amounts 0.1-6.9%, and in deciduous dentition 0.4-0.8%. The presence of supernumerary teeth can be found in everyday dental practice. Case presentation: We describe 3 cases of patients with supernumerary teeth. First patient had supernumerary lateral incisor 12s, second - premolar fu...

  10. Supernumerary teeth in clinical practice

    Directory of Open Access Journals (Sweden)

    Anna K. Szkaradkiewicz

    2011-07-01

    Full Text Available Introduction: Hyperdontia is the condition of having supernumerary teeth, or teeth which appear in addition to the regular number of teeth. The prevalence rates of supernumerary teeth in the permanent dentition amounts 0.1-6.9%, and in deciduous dentition 0.4-0.8%. The presence of supernumerary teeth can be found in everyday dental practice.Case presentation: We describe 3 cases of patients with supernumerary teeth. First patient had supernumerary lateral incisor 12s, second - premolar fused, multicuspid, supernumerary deciduous tooth 64s of having several interconnected roots, and third - erupted odontoma between teeth 13 and 14. In all cases treatment involved the removal of the supernumerary tooth.Conclusions: The decision on proceeding with the supernumerary teeth should be based on the full clinical picture and interview. Early diagnosis and removal of supernumerary teeth allow to avoid or reduce possible complications.

  11. Characteristics, clinical features and treatment of supernumerary teeth.

    Science.gov (United States)

    Yassin, Othman M; Hamori, Eman

    2009-01-01

    To determine the characteristics, clinical features and treatment of supernumerary teeth in a general district hospital in the North of Jordan. This retrospective study was conducted at Prince Rashid Al-Hassan Hospital in Irbid. The medical records of 139 patients who were diagnosed to have supernumerary teeth during the period April 1993 - June 2007 were reviewed. Clinical data on the location, number eruption status, stages of development, and the types of supernumerary teeth were recorded, along with information on demographics, treatment, associated systemic syndromes, effects on adjacent teeth, and treatment. The male to female ratio was 2.2:1. Of the 186 supernumerary teeth investigated (65.0%) were conical, (23.7%) supplemental, (10.8%) tuberculate and (0.5%) odontoma. Two-thirds of the supernumeraries were erupted. Of this sample (21.6%) patients had multiple supernumerary teeth. The most frequent location was at the premaxilla level. The most common effect on adjacent teeth was delayed eruption (23.1%). Simple and surgical extractions of supernumerary teeth were done for (81.7%) of the cases and orthodontic treatment was needed in (74.1%) of patients. Supernumerary teeth are an uncommon dental entity. An early diagnosis prevents or reduces the risk of complications and when combined with an earlier removal has a better prognosis.

  12. Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization.

    Science.gov (United States)

    Reeser, S L; Donnenfeld, A E; Miller, R C; Sellinger, B S; Emanuel, B S; Driscoll, D A

    1994-11-01

    Cytogenetic studies of cultured amniocytes demonstrated a karyotype of 46,XX/47,XX, +mar. A bisatellited, dicentric, distamycin-DAPI negative, NOR-positive marker was present in 76 per cent of the metaphases examined. Similar markers have been associated with cat eye syndrome (CES). We report on the utilization of fluorescence in situ hybridization (FISH) with a 14/22 alpha-satellite probe and a chromosome 22-specific cosmid for locus D22S9 to determine the origin of the prenatally detected supernumerary marker chromosome. FISH studies demonstrated that the marker is a derivative of chromosome 22 and enabled us to provide the family with additional prognostic information.

  13. Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotype.

    Science.gov (United States)

    Kvarnung, Malin; Lindstrand, Anna; Malmgren, Helena; Thåström, Anders; Jacobson, Lena; Dahl, Niklas; Lundin, Johanna; Blennow, Elisabeth

    2012-05-01

    We have studied a family with repeated transmission of mosaicism for a supernumerary marker chromosome (SMC), giving rise to varying symptoms of the cat eye syndrome (CES) in the offspring. The frequency of the SMC was investigated using FISH with probes from the CES critical region on lymphocytes as well as buccal cells. The same probes were used to study the frequency of the SMC in spermatozoa from the father. The SMC was characterized in detail using array-CGH and was found to correspond to a symmetrical cat eye SMC type I, with two extra copies of the most proximal part of 22q11, not extending into the classical 22q11.2 deletion region. Mosaicism for the SMC was detected in 4 out of 7 family members, the father and all his three children. The degree of mosaicism varied greatly between individuals as well as between tissues, with twice as many cells with the SMC in epithelial cells compared to blood. The highest frequency (almost 50%) was found in spermatozoa from the father. There was a direct correlation between the degree of mosaicism and the symptoms, varying from no obvious symptoms to classical CES. The study confirms the occurrence of direct transmission of SMC-mosaicism in CES. The results indicate that examination of parental epithelial cells should be preferred compared to blood cells in order to exclude a recurrence risk in parents of a child with CES. Interphase FISH analysis of spermatozoa is the most sensitive method to exclude paternal germ line mosaicsm. Copyright © 2012 Wiley Periodicals, Inc.

  14. Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report

    Directory of Open Access Journals (Sweden)

    Hamid Ahmed B

    2010-08-01

    Full Text Available Abstract Introduction Small supernumerary marker chromosomes are still a problem in cytogenetic diagnostic and genetic counseling. This holds especially true for the rare cases with multiple small supernumerary marker chromosomes. Most such cases are reported to be clinically severely affected due to the chromosomal imbalances induced by the presence of small supernumerary marker chromosomes. Here we report the first case of a patient having four different small supernumerary marker chromosomes which, apart from slight developmental retardation in youth and non-malignant hyperpigmentation, presented no other clinical signs. Case presentation Our patient was a 30-year-old Caucasian man, delivered by caesarean section because of macrosomy. At birth he presented with bilateral cryptorchidism but no other birth defects. At age of around two years he showed psychomotor delay and a bilateral convergent strabismus. Later he had slight learning difficulties, with normal social behavior and now lives an independent life as an adult. Apart from hypogenitalism, he has multiple hyperpigmented nevi all over his body, short feet with pes cavus and claw toes. At age of 30 years, cytogenetic and molecular cytogenetic analysis revealed a karyotype of 50,XY,+min(6(:p11.1-> q11.1:,+min(8(:p11.1->q11.1:,+min(11(:p11.11->q11:,+min(12(:p11.2~12->q10:, leading overall to a small partial trisomy in 12p11.1~12.1. Conclusions Including this case, four single case reports are available in the literature with a karyotype 50,XN,+4mar. For prenatally detected multiple small supernumerary marker chromosomes in particular we learn from this case that such a cytogenetic condition may be correlated with a positive clinical outcome.

  15. The Diagnosis and Management of Multiple Supernumerary Teeth Involving Both Jaws.

    Science.gov (United States)

    Öz, A Alper; Baş, Burcu; Öz, Aslihan Zeynep

    2015-01-01

    Supernumerary teeth are frequently seen anomalies however its occurrence in both jaws is rare without being associated with complex syndromes. This case report describes the orthodontic and surgical treatment of a 13-year-old boy with nonsyndromal multiple and abnormal supernumerary teeth. The patient had several erupted and unerupted supernumerary teeth involving both jaws. Two abnormal tuberculate type erupted supernumerary teeth were present at the site of upper central incisors which leads to the impaction of the permanent incisors. In this report, clinical and radiographic evaluation as well as the treatment alternatives of this rare case was presented.

  16. Bilateral supernumerary primary maxillary canines

    Directory of Open Access Journals (Sweden)

    Santanu Mukhopadhyay

    2018-01-01

    Full Text Available Supernumerary teeth are more common in the permanent than in primary dentition. In the primary dentition, the anomaly is most frequently observed in the maxillary lateral incisor region, followed by the maxillary midline where they are termed as mesiodens. Supernumerary teeth in the primary canine region are rare. This paper describes a rare case of nonsyndromic supernumerary primary maxillary canine distributed bilaterally in a 4-year-old boy. Both the supernumeraries resembled size and shape of normal primary canine. The right supplemental canine is high labially placed, whereas the left one is seen normally aligned in the dental arch distal to lateral incisor. One of the most significant sequelae of primary supernumerary teeth is their duplication in the permanent series. Radiographic examination of supernumerary primary canine did not indicate any such anomaly in the permanent dentition. The patient was kept under observation.

  17. [Multiple supernumerary teeth: a case report].

    Science.gov (United States)

    Chen, Jun; Zhang, Qing-Fu; Liu, Guo-Qin; Zhao, Hai-Jun; Zhang, Xin-Hai

    2010-02-01

    Supernumerary teeth is one of the dysplasia that the number of the teeth are more than physical number. Most cases of reports were with 1-2 supernumerary teeth and rare cases were with more than 3 supernumerary teeth. A 17-year old female patient of 7 impacted supernumerary teeth were found because of toothache of premolar caused by impacted supernumerary teeth and were treated by extraction of impacted supernumerary teeth.

  18. Supernumerary teeth: case report and literature review

    International Nuclear Information System (INIS)

    Bolanos Lopez, Violeta

    2008-01-01

    Supernumerary teeth (ST) have been an anomaly of tooth development, this is refered to the increase in the number of pieces in the normal dentition. It can be unique, multiple, unilateral or bilateral, normal or altered form; appear erupted, impacted or retained. Both dentitions are affected, but is most common in the permanent. The literature review has covered and mentioned spanned supernumerary teeth, the definition, etiology, characteristics and classification according to number, position and shape; as diagnose, alterations or clinical sequelae - eruptive associated with them and possible treatments to be done when it occurs. The presence of mechanical accidents have been a frequent complication, within this, displacement of adjacent teeth has been the most common; is associated with different syndromes such as lip and palate cleft; however, they can not be related with pathologies; being mesiodens the most frequent. (author) [es

  19. Supernumerary teeth in Nepalese children.

    Science.gov (United States)

    Singh, Varun Pratap; Sharma, Amita; Sharma, Sonam

    2014-01-01

    The objectives of the present study were to investigate the prevalence and characteristics of supernumerary teeth in a patient sample of Nepalese children. A survey was performed on 2684 patients (1829 females and 1035 males) ranging in age from 6 to 14 for the presence of supernumerary teeth. For each patient with supernumerary teeth the demographic variables (age and sex), number, location, eruption status, and morphology were recorded. Descriptive statistics were performed. Supernumerary teeth were detected in 46 subjects (1.6%), of which 26 were males and 20 were females with a male : female ratio of 1.3 : 1. The most commonly found supernumerary tooth was mesiodens followed by maxillary premolars, maxillary lateral incisor, and mandibular lateral incisor. Of the 55 supernumerary teeth examined, 58.18% (n = 32) had conical morphology, followed by tuberculate (30.90%, n = 17) and supplemental (10.90%, n = 6) forms. The majority of the supernumerary teeth were erupted (56.36%, n = 31). The prevalence of supernumerary teeth in Nepalese children was found to be 1.6%, the most frequent type being mesiodens. Conical morphology was found to be the most common form of supernumerary tooth.

  20. Supernumerary Teeth in Nepalese Children

    Directory of Open Access Journals (Sweden)

    Varun Pratap Singh

    2014-01-01

    Full Text Available Objective. The objectives of the present study were to investigate the prevalence and characteristics of supernumerary teeth in a patient sample of Nepalese children. Study Design. A survey was performed on 2684 patients (1829 females and 1035 males ranging in age from 6 to 14 for the presence of supernumerary teeth. For each patient with supernumerary teeth the demographic variables (age and sex, number, location, eruption status, and morphology were recorded. Descriptive statistics were performed. Results. Supernumerary teeth were detected in 46 subjects (1.6%, of which 26 were males and 20 were females with a male : female ratio of 1.3 : 1. The most commonly found supernumerary tooth was mesiodens followed by maxillary premolars, maxillary lateral incisor, and mandibular lateral incisor. Of the 55 supernumerary teeth examined, 58.18% (n=32 had conical morphology, followed by tuberculate (30.90%, n=17 and supplemental (10.90%, n=6 forms. The majority of the supernumerary teeth were erupted (56.36%, n=31. Conclusion. The prevalence of supernumerary teeth in Nepalese children was found to be 1.6%, the most frequent type being mesiodens. Conical morphology was found to be the most common form of supernumerary tooth.

  1. Phenotypic Characterization of Derivative 22 Syndrome: Case ...

    Indian Academy of Sciences (India)

    DEEPTI

    E-mail: shubharaophadke@gmail.com. Conflict of Interest Statement: There is no conflict of interest among the authors. Key words: Emanuel syndrome; derivative chromosome 22; microarray; intellectual disability; chromosomal rearrangement. Abstract. Emanuel syndrome is characterized by severe intellectual disability, ...

  2. Multiple Supplemental Supernumerary Premolars: Unusual Presentation in a Nonsyndrome Patient

    Directory of Open Access Journals (Sweden)

    Ashwini Ramakrishna

    2013-01-01

    Full Text Available Supplementary teeth in the dental arch are a rare occurrence. Though they are mostly reported in association with syndromes they can also present in the absence of systemic pathology. This paper reports a case with multiple supernumerary teeth along with discussion of the frequency, types, complications, and management of such occurrence.

  3. Interrupted aortic arch type B in A patient with cat eye syndrome.

    Science.gov (United States)

    Belangero, Sintia Iole Nogueira; Bellucco, Fernanda Teixeira da Silva; Cernach, Mirlene C S P; Hacker, April M; Emanuel, Beverly S; Melaragno, Maria Isabel

    2009-05-01

    We report a patient with cat eye syndrome and interrupted aortic arch type B, a typical finding in the 22q11.2 deletion syndrome. Chromosomal analysis and fluorescent in situ hybridization (FISH) showed a supernumerary bisatellited isodicentric marker chromosome derived from chromosome 22. The segment from 22pter to 22q11.2 in the supernumerary chromosome found in our patient does not overlap with the region deleted in patients with the 22q11.2 deletion syndrome. However, the finding of an interrupted aortic arch type B is unusual in CES, although it is a frequent heart defect in the 22q11 deletion syndrome.

  4. Twelve Impacted Supernumerary Teeth in a Nonsyndromic Patient: A Rare Case Report.

    Science.gov (United States)

    Al-Iryani, Ghassan M; Ali, Fareedi Mukram

    2017-04-01

    Teeth in excess number than the normal count are called supernumerary teeth. They can be either unilateral or bilateral and single or multiple, found at any place in the dental arch, but most commonly found in the anterior maxillary region. Supernumerary teeth are commonly associated with syndromes when present in more numbers, but can be idiopathic. The present study shows a case report of a 16-year-old female patient who reported with overretained deciduous teeth. A panoramic radiograph showed multiple impacted supernumerary teeth. Based on clinical features and radiographic examination, a diagnosis of idiopathic hyperdontia was given. In such types of patients, management must be planned by a multidisciplinary approach.

  5. Late-Developing Supernumerary Premolars: Analysis of Different Therapeutic Approaches

    Directory of Open Access Journals (Sweden)

    Sergio Paduano

    2016-01-01

    Full Text Available This case series describes the different potential approaches to late-developing supernumerary premolars (LDSP. LDSP are supernumerary teeth (ST formed after the eruption of the permanent dentition; usually they develop in the premolar region of the upper and lower jaw. The choice to extract or to monitor the LDSP depends on many factors and has to be carefully planned due to the several risks that either the monitoring or the extraction could provoke. These four cases of LDSP showed different treatment plan alternatives derived from a scrupulous assessment of the clinical and radiographic information.

  6. Surgical management of multiple supernumerary teeth and an impacted maxillary permanent central incisor.

    Science.gov (United States)

    Rallan, Mandeep; Rallan, Neelakshi Singh; Goswami, Mousumi; Rawat, Kamini

    2013-05-22

    Hyperdontia is the condition of having supernumerary teeth, or teeth which appear in addition to the regular number of teeth. It is a developmental anomaly and has been argued to arise from multiple aetiologies. The most common site is the maxillary incisor region; but the prevalence of more than three teeth supernumerary tooth is less than 1%. A case of 13 year male patient is reported with a multiple impacted supernumerary tooth in maxillary anterior region hindering the eruption of right permanent central incisor. The supernumerary tooth was treated via surgical approach followed by an interim prosthesis for permanent central incisor which later on erupted in due course of time. Background Supernumerary teeth may be defined as any teeth or tooth substance in excess of the usual configuration of 20 deciduous and 32 permanent teeth. The presence of supernumerary teeth in the premaxillary region often poses unique diagnostic and managerial concerns for the practitioner. Rarely is the surplus number compensated by an absence or deficiency of other teeth. Therefore, the dysfunctional nature of supernumerary teeth and their ability to create a variety of pathological disturbances in the normal eruption and position of adjacent teeth warrants their early detection and prudent management. Approximately 76-86% of cases represent single-tooth hyperdontia, with two supernumerary teeth noted in 12-23% and three or more extra teeth noted in less than 1% of cases. Multiple supernumerary teeth are also associated with many syndromes like cleidocranial dysplasia and Gardner’s syndrome etc. However, it is rare to find multiple supernumeraries in individuals with no other associated disease or syndrome. In such cases, the maxillary anterior region is the common site of occurrence. The exact aetiology is not clearly understood. The supernumerary teeth result from any disturbance in the initiation and proliferation stages of odontogenesis. There are several theories regarding the

  7. Differential expressions of bilaterally unerupted supernumerary teeth

    Directory of Open Access Journals (Sweden)

    S Masih

    2011-01-01

    Full Text Available This article presents a case of bilateral unerupted supernumerary teeth in the mandibular premolar region. Surgical removal of the right-sided supernumerary tooth had to be carried out as it was impeding the eruption of the mandibular first premolar. However, its supernumerary antimere, lay dormant.

  8. Supernumerary ring chromosomes derived from the long arm of chromosome 12 as the primary cytogenetic anomaly in a rare soft tissue chondroma.

    Science.gov (United States)

    Shadan, F F; Mascarello, J T; Newbury, R O; Dennis, T; Spallone, P; Stock, A D

    2000-04-15

    Supernumerary ring chromosomes varying with respect to both size and number were found as the primary cytogenetic anomaly in a rare benign soft tissue chondroma resected from the floor of the mouth of a 3-year-old girl. Reverse fluorescence in situ hybridization paint probes prepared by polymerase chain reaction from microdissected rings produced fluorescent signal over two large but discontinuous parts of the chromosome 12 long arm, subdivided into four regions. This case expands the spectrum of mesenchymal neoplasms in which ring chromosomes have been described as the primary genetic anomaly. A review of the literature reporting similar findings in other soft tissue tumors further supports the possibility that low-level amplification of chromosome 12 long-arm regions may contribute to abnormal cellular proliferation in a variety of mesenchymal tumors. Genes implicated in the control of the cell cycle such as sarcoma amplified sequence (SAS), the human homolog of the murine double-minute type 2 gene (MDM-2), proto-oncogenes CHOP/GADD153, GLI, A2MR, cyclin-dependent kinase (CDK4), and the high mobility group (HMGIC) gene implicated in mesenchymal tumorigenesis are all located on the long arm of chromosome 12. Chromosomal abnormalities involving the 12q13-q15 region are associated with a wide range of benign soft tissue tumors and sarcomas.

  9. Interrupted Aortic Arch Type B in A Patient with Cat Eye Syndrome

    OpenAIRE

    Belangero, Sintia Iole Nogueira; Bellucco, Fernanda Teixeira da Silva; Cernach, Mirlene C. S. P.; Hacker, April M.; Emanuel, Beverly S.; Melaragno, Maria Isabel

    2009-01-01

    We report a patient with cat eye syndrome and interrupted aortic arch type B, a typical finding in the 22q11.2 deletion syndrome. Chromosomal analysis and fluorescent in situ hybridization (FISH) showed a supernumerary bisatellited isodicentric marker chromosome derived from chromosome 22. The segment from 22pter to 22q11.2 in the supernumerary chromosome found in our patient does not overlap with the region deleted in patients with the 22q11.2 deletion syndrome. However, the finding of an in...

  10. Supernumerary teeth "mesiodens". Case report.

    Science.gov (United States)

    Itro, A; Difalco, P

    2003-09-01

    The supernumerary tooth is an anomaly of dental eruption that is not rare to find in the clinical practice. Among the supernumerary teeth the "mesiodens" is most frequent. The mesiodens is found in the region of the superior central incisors and it can be the cause of many complications. The aim of this work is the description of a rare symptomatic case of mesiodens and the diagnostic and therapeutic strategies to adopt when this dental anomaly occurs. In particular the authors suggest making radiographic examinations only in the family of patients with dental anomalies of number, thinking that the incidence of such anomalies is too low to justify mass radiographic examinations.

  11. Late developing supernumeraries in a case of nonsyndromic multiple supernumerary teeth.

    Science.gov (United States)

    Bozkurt, Mine; Bezgin, Tugba; Tüzüner Öncül, Ayşegül; Göçer, Rukiye; Sarı, Şaziye

    2015-01-01

    Objective. This case report presents 3-year follow-up of a case of nonsyndromic multiple supernumerary teeth (NSMST) with 11 supernumerary teeth, 2 of which showed subsequent formation. Case Report. A 10-year-old girl was referred to the dental clinic with the chief complaint of delayed eruption. Radiographic examination showed 9 retained supernumerary teeth. The treatment plan consisted of extraction of the supernumerary teeth and associated primary teeth in order to allow the permanent teeth to erupt. After 2 years of follow-up, 2 additional supernumerary teeth were observed. Conclusion. Regular follow-up for late forming supernumeraries is crucial for NSMST cases.

  12. Supernumerary kidney presenting as pyonephrosis

    Directory of Open Access Journals (Sweden)

    Senthilnathan Ramasamy

    2009-01-01

    Full Text Available Renal anomalies constitute a majority of all congenital anomalies of urinary tract. Many anomalies warrant surgical intervention and some may not. Supernumerary kidney is an extremely rare anomaly; its association with horseshoe kidney is rare. A bizarre presentation in this patient-made preoperative diagnosis impossible. We report this extremely rare anomaly and its recognition and subsequent management.

  13. Identification of supernumerary teeth in 2D and 3D: review of literature and a proposal.

    Science.gov (United States)

    Toureno, Leo; Park, Jae Hyun; Cederberg, Robert A; Hwang, Eui Hwan; Shin, Je-Won

    2013-01-01

    Supernumerary teeth occur in both syndromic and nonsyndromic patients, and dental professionals are likely to encounter such teeth in their professional careers. There are three main numbering systems used to identify teeth today: the Universal/ National, the Palmer/Zsigmondy notation, and the Federation Dentaire Internationale (FDI) numbering systems. However, a review of the literature suggests that none of these three consistently addresses the identification of supernumerary teeth. Being able to communicate the location of supernumerary teeth is important for dental professionals, especially in interdisciplinary situations. This article proposes a guideline to locate and identify supernumerary teeth in two and three dimensions, which may reduce treatment errors and improve communication among health care providers and third-party administrators.

  14. Prevalence of supernumerary teeth based on panoramic radiographs revisited.

    Science.gov (United States)

    Anthonappa, Robert P; King, Nigel M; Rabie, A Bakr M

    2013-01-01

    The purposes of this study were to: (1) identify, within the literature, reports on the prevalence of supernumerary teeth that have used panoramic radiographs (PRs) as a diagnostic tool; and (2) reanalyze the prevalence data based on the current sensitivity figures for PRs in identifying supernumerary teeth. A comprehensive literature search in three databases identified 16 potential studies, of which seven were included in the final analysis. Based on the recent sensitivity data for PRs in identifying supernumerary teeth, the equation "P=r/q" was derived to reanalyze the prevalence data. Multiple regression analysis and paired t test were employed for the statistical analysis. The prevalence figure ranged from 1.2 percent to three percent, and, subsequent to the application of the adjustment factor, it increased to range from 2.4 percent to six percent. The prevalence figures for males was significantly higher than for females (RR=1.37). Furthermore, due to insufficient studies, statistical analysis was unable to elicit ethnical differences in the prevalence figures. The prevalence of supernumerary teeth is higher than indicated in the published reports and ranges from 2.4 percent to six percent or possibly even higher.

  15. Aetiology of supernumerary teeth: a literature review.

    Science.gov (United States)

    Anthonappa, R P; King, N M; Rabie, A B M

    2013-10-01

    Supernumerary teeth are teeth, or tooth-like structures that have either erupted or remain unerupted in addition to the 20 primary and 32 permanent teeth. This paper attempts to (a) provide an overview of the proposed hypotheses and the current understanding of the aetiology of supernumerary teeth, and (b) review the published cases of supernumerary teeth occurring in families. No studies have been able to distinguish between different aetiologies for the different locations of supernumerary teeth, while, from a developmental or molecular perspective, the proposed hypotheses may be plausible and explains the origin of different types of supernumerary teeth. The only clearly evident feature, based on the existing published reports, is that it is logical to state that supernumerary teeth have a genetic component in their aetiology.

  16. A coding solution for supernumerary teeth.

    Science.gov (United States)

    van der Westhuijzen, A J; Morkel, J A

    2011-08-01

    In South Africa payments for treatment rendered are routinely delayed because of the medical fund industry's apparent inability to capture codes denoting supernumerary teeth. The suggested protocol allows for up to 13 supernumerary teeth to be identified by two digits. Meetings planned between SADA and key funding stakeholders to "ensure that protocols related to tooth numbering are acceptable", provide the ideal opportunity to introduce the suggested two-digit protocol for numbering supernumerary teeth. If this proposal is implemented, it could alleviate the frustration associated with the rejection of accounts where supernumerary teeth are appropriately identified.

  17. Histological Evaluation and Management of Rare Case of Supernumerary “Ghost” Teeth

    Directory of Open Access Journals (Sweden)

    Dino Re

    2017-01-01

    Full Text Available Supernumerary teeth are teeth that exceed the normal dental formula. Their prevalence in the permanent dentition is 1–14% and they occur more frequently in maxilla with a sex ratio of 2 : 1 in favor of males. They are often associated with syndromes but there are examples of nonsyndromic multiple supernumerary teeth reported in the literature. CBCT is usually the best exam for radiographic diagnosis and treatment planning, because it provides 3D information about location and morphology of supernumerary teeth. This paper reports a rare case of four supernumerary teeth in a nonsyndromic 9-year-old boy. The peculiarity of this case is that two more exceeding teeth were found during surgical procedure. After extraction, all the teeth underwent a histological undecalcified processing for light microscopical examination. The two “ghost” supernumerary teeth seemed to be primordial dental germs, possibly resulting from an altered odontogenic process. After supernumerary teeth extraction, X-rays and exfoliation monitoring are recommended, since permanent retained teeth often erupt naturally or, at least, improve their condition. Radiographic follow-up is also useful in order to assess the formation of further teeth due to the hyperactivity of the dental lamina.

  18. Histological Evaluation and Management of Rare Case of Supernumerary “Ghost” Teeth

    Science.gov (United States)

    Canciani, Elena; Buccarella, Laura; Toma, Marilisa; Butti, Andrea Carlo; Dellavia, Claudia

    2017-01-01

    Supernumerary teeth are teeth that exceed the normal dental formula. Their prevalence in the permanent dentition is 1–14% and they occur more frequently in maxilla with a sex ratio of 2 : 1 in favor of males. They are often associated with syndromes but there are examples of nonsyndromic multiple supernumerary teeth reported in the literature. CBCT is usually the best exam for radiographic diagnosis and treatment planning, because it provides 3D information about location and morphology of supernumerary teeth. This paper reports a rare case of four supernumerary teeth in a nonsyndromic 9-year-old boy. The peculiarity of this case is that two more exceeding teeth were found during surgical procedure. After extraction, all the teeth underwent a histological undecalcified processing for light microscopical examination. The two “ghost” supernumerary teeth seemed to be primordial dental germs, possibly resulting from an altered odontogenic process. After supernumerary teeth extraction, X-rays and exfoliation monitoring are recommended, since permanent retained teeth often erupt naturally or, at least, improve their condition. Radiographic follow-up is also useful in order to assess the formation of further teeth due to the hyperactivity of the dental lamina. PMID:28546879

  19. Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth

    DEFF Research Database (Denmark)

    Nieminen, Pekka; Morgan, Neil V; Fenwick, Aimée L

    2011-01-01

    Craniosynostosis and supernumerary teeth most often occur as isolated developmental anomalies, but they are also separately manifested in several malformation syndromes. Here, we describe a human syndrome featuring craniosynostosis, maxillary hypoplasia, delayed tooth eruption, and supernumerary...... and remodeling of limb bones has been previously described. We conclude that IL11 signaling is essential for the normal development of craniofacial bones and teeth and that its function is to restrict suture fusion and tooth number. The results open up the possibility of modulation of IL11 signaling...

  20. Bilateral Supernumerary Kidney: A Very Rare Presentation

    International Nuclear Information System (INIS)

    Keskin, Suat; Batur, Abdussamet; Keskin, Zeynep; Koc, Abdulkadir; Firat Ozcan, Irfan

    2014-01-01

    To our knowledge, bilateral supernumerary kidney is a very rare renal abnormality and there are five cases presented in the literature. It is difficult to diagnose supernumerary kidney and clinicians have not detected most cases preoperatively. Laboratory and imaging studies were acquired and carefully examined. The normal laboratory tests were found. Emergency ultrasonography was performed and they revealed no signs of parenchymal abnormality in both kidneys. Serial imaging study including enhanced computed tomography (CT) was performed. An imaging study identified bilateral supernumerary kidney with expanded collecting systems. On each side, significant rotation anomaly was found. In addition, there were two different renal arteries originating from the aorta. This report presents radiological determinations of supernumerary kidney bilaterally in a young man. We think that CT commonly appears to be enough for the diagnosis of supernumerary kidneys

  1. Bilateral Supernumerary Kidney: A Very Rare Presentation

    Science.gov (United States)

    Keskin, Suat; Batur, Abdussamet; Keskin, Zeynep; Koc, Abdulkadir; Firat Ozcan, Irfan

    2014-01-01

    To our knowledge, bilateral supernumerary kidney is a very rare renal abnormality and there are five cases presented in the literature. It is difficult to diagnose supernumerary kidney and clinicians have not detected most cases preoperatively. Laboratory and imaging studies were acquired and carefully examined. The normal laboratory tests were found. Emergency ultrasonography was performed and they revealed no signs of parenchymal abnormality in both kidneys. Serial imaging study including enhanced computed tomography (CT) was performed. An imaging study identified bilateral supernumerary kidney with expanded collecting systems. On each side, significant rotation anomaly was found. In addition, there were two different renal arteries originating from the aorta. This report presents radiological determinations of supernumerary kidney bilaterally in a young man. We think that CT commonly appears to be enough for the diagnosis of supernumerary kidneys. PMID:25780543

  2. Rare molariform supernumerary teeth: Why are they bilateral?

    Science.gov (United States)

    Jain, Parul; Kaul, Rahul; Saha, Subrata

    2017-01-01

    Anterior supernumerary teeth in the permanent dentition may be supplemental or rudimentary. Rudimentary types are further classified as conical, tuberculate, and molariform. The molariform type has been only rarely reported. We report a rare variety of anterior supernumerary teeth - the molariform type, occurring bilaterally and in association with a midline supernumerary tooth. We also suggest a hypothesis for the bilateral occurrence of supernumerary teeth.

  3. An epidemiological study on supernumerary teeth: a survey on 5,000 people.

    Science.gov (United States)

    Kumar, Dara Kalyan; Gopal, K Saraswathy

    2013-07-01

    The formation of dental tissues is a highly delicate and complex phenomenon. Any alteration in this process leads to various dental anomalies which affect the tooth number, size, shape and structure. Supernumerary teeth are one such anomaly which affects the tooth number. Supernumerary teeth can give rise to various complications and pathologies or they may have a familial / syndromic association. They may occur along with other dental anomalies. Thus, such teeth have a definite clinical significance. The aim of the following study was to know the prevalence of the supernumerary teeth and the distribution of the cases according to the age, sex, jaw, region, eruption status, and the position. A total of 5000 patients were examined for a period of 1 year's duration and they were divided into different groups. Group I consisted of individuals who were aged between 5-20 years, Group II consisted of individuals who were aged between 21-40 years, and Group III consisted of individuals who were aged 41 years and above. The dental examination was conducted by using a mouth mirror and a probe, to determine the presence of supernumerary teeth. All the cases with supernumerary teeth were further observed and the details were recorded in a prepared porforma. These cases were also subjected to general physical examinations (to rule out any syndromes) and radiographic examinations. Photographs were also made. Although supernumerary teeth is an unusual anomaly, it is not as rare as was previously reported. The identification of this anomaly could provide a hint towards the possibility of complications, pathologies, other dental anomalies, syndromes and a familial association.

  4. Supernumerary teeth in a Turkish population.

    Science.gov (United States)

    Esenlik, Elçin; Sayin, M Ozgür; Atilla, A Onur; Ozen, Tuncer; Altun, Ceyhan; Başak, Feridun

    2009-12-01

    Our aim in this study was to investigate the frequency, distribution, sex differences, and characteristics of supernumerary teeth in a referred Turkish population. A total of 2599 patients' panoramic radiographs (1360 girls, 1239 boys) were evaluated, including children in both the mixed and the permanent dentitions. Their mean age was 8.6 +/- 0.23 years. Number, location, classification, side, and impaction of supernumerary teeth were evaluated. Furthermore, the development of these teeth was evaluated. Eighty-four supernumerary teeth were found on 69 radiographs; 9 were deciduous and 75 were permanent teeth. Most supernumerary teeth were in the premaxillary region (67%). Mesiodens (n = 43) was the most frequent supernumerary tooth (51.2%). This was followed by the maxillary lateral incisor (15.5%), the mandibular premolar (14.3%), the maxillary canine (9.5%), the maxillary premolar (6%), the mandibular lateral incisor (2.4%), and the mandibular canine (1.2%). Sixty-two (73.8%) supernumerary teeth were impacted. The male-female ratio was 1.13:1, which was not statistically significant. The prevalence of supernumerary teeth in Turkish children was 2.7% in this study.

  5. Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8(::p12→q13.1:: associated with phenotypic abnormalities

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2016-12-01

    Conclusion: Mosaic sSMC(8 derived from r(8(::p12→q13.1:: can present phenotypic abnormalities. Chromosome 8q12 duplication syndrome should be included in differential diagnosis when an sSMC(8 contains 8q12.2 and CHD7.

  6. Fibroadenoma in axillary supernumerary breast: case report

    Directory of Open Access Journals (Sweden)

    Délio Marques Conde

    Full Text Available CONTEXT: Supernumerary breast tissue may be affected by the same diseases and alterations that compromise topical breast tissue. Nevertheless, reports of fibroadenoma in supernumerary breast tissue in the axillae are rare. OBJECTIVE: To describe a case of fibroadenoma in an axillary supernumerary breast. DESIGN: Case report. CASE REPORT: A 39-year-old woman was referred to the gynecology and obstetrics outpatient clinic at Hospital Estadual Sumaré, complaining of bilateral axillary masses. The patient reported cosmetic problems and local pain and discomfort. On physical examination, alterations compatible with bilateral axillary accessory breasts, without palpable nodules, were observed. Supplementary examinations (mammography and ultrasonography revealed a 1.1 cm mass in the right axillary breast. The patient underwent resection of the supernumerary breasts and histopathological examination revealed fibroadenoma of the right axillary breast tissue.

  7. Molecular Genetics of Supernumerary Tooth Formation

    Science.gov (United States)

    Wang, Xiu-Ping; Fan, Jiabing

    2011-01-01

    Summary Despite advances in the knowledge of tooth morphogenesis and differentiation, relatively little is known about the aetiology and molecular mechanisms underlying supernumerary tooth formation. A small number of supernumerary teeth may be a common developmental dental anomaly, while multiple supernumerary teeth usually have a genetic component and they are sometimes thought to represent a partial third dentition in humans. Mice, which are commonly used for studying tooth development, only exhibit one dentition, with very few mouse models exhibiting supernumerary teeth similar to those in humans. Inactivation of Apc or forced activation of Wnt/β(catenin signalling results in multiple supernumerary tooth formation in both humans and in mice, but the key genes in these pathways are not very clear. Analysis of other model systems with continuous tooth replacement or secondary tooth formation, such as fish, snake, lizard, and ferret, is providing insights into the molecular and cellular mechanisms underlying succesional tooth development, and will assist in the studies on supernumerary tooth formation in humans. This information, together with the advances in stem cell biology and tissue engineering, will pave ways for the tooth regeneration and tooth bioengineering. PMID:21309064

  8. Evaluation of nonsyndromic multiple supernumerary teeth using three-dimensional computerized tomography: a case report and literature review.

    Science.gov (United States)

    Wang, Wen-Mei; Wang, Xiang; Wang, Tie-Mei

    2010-01-01

    The aims of this report are to present a case of nonsyndromic multiple supernumerary teeth and a discussion of the value of three-dimensional computerized tomography (3D CT) for precise radiographic imaging of the anomaly. Multiple supernumerary teeth without any associated syndromes are very rare. Exact radiographic presentations with an associated diagnosis of nonsyndromic multiple supernumerary teeth have not been well published. A young Chinese female patient presented with asymmetrical nonsyndromic multiple supernumerary teeth in the premolar and molar regions of her mouth. A 3D CT was used to evaluate the exact location and orientation of these teeth and to guide the treatment strategy. The use of 3D CT for the evaluation of supernumerary teeth proved to be very useful in determining their size, location, and state of development, as well as their impact on adjacent teeth and tissues in a 15-year-old patient. The 3D CT is a very useful radiological tool to assess nonsyndromic multiple supernumerary teeth.

  9. Prevalence and characterıstıcs of supernumerary teeth in a child population from Central Anatolıa - Turkey.

    Science.gov (United States)

    Arikan, Volkan; Ozgul, Betul Memis; Firdevs, Tulga O Z

    2013-12-01

    This article aimed to characterize the incidence of supernumerary teeth in Turkish children according to sex, location, number and morphology and to explore possible correlations between these variables. The study population comprised 7,551 non-syndromic patients aged 3-16 years who applied for routine check-ups at the Ankara University Department of Pediatric Dentistry between January 2009 and January 2010. The population included children in deciduous, mixed and permanent dentition. Both clinical and radiographic examinations were conducted. Demographic variables (age, sex) as well as number, location (maxilla or mandible), position, type and morphology of supernumeraries were recorded for all patients with supernumerary teeth. Supernumerary teeth with odontomes were also noted. Of the 7,551 patients examined, supernumerary teeth were detected in 74 patients (0.98%). Of these, 48 were male and 26 were female (male-to-female ratio: 1.84:1). A total of 84 supernumerary teeth were detected, 80 (95.2%) of which were permanent teeth and 4 (4.8%) of which were deciduous teeth (n=4). Most supernumerary teeth (n=59, 70.2%) were located in the maxillary arch. The most common supernumerary teeth were mesiodens (36.9%), followed by supernumerary teeth located in the maxillary incisor region (33.3%), the mandibular premolar region (17.9%), the mandibular molar region (5.9%), the mandibular incisor region (4.8%) and the mandibular canine region (1.2%). The prevalence of supernumerary teeth was found to be 0.98% and mesiodens was the most frequent type.

  10. Supernumerary Nipples, Congenital Scoliosis, Spina Bifida, Diastematomyelia, and Crossed Renal Ectopia in a child

    Directory of Open Access Journals (Sweden)

    Kiran Panthee

    2016-11-01

    Full Text Available Introduction: Supernumerary nipples are common anomalies which may be associated with several systemic disorders, particularly urinary tract abnormalities.   Case report: Here we report a case of a 4½ year old male presenting to the pediatric out patient clinic with fever for three days and recurrent sinopulmonary infections. The child had supernumerary nipples over the right side with deformed thoracic cage, congenital scoliosis, diastematomyelia, crossed renal ectopia, and spina bifida. All the conditions present together did not match any syndrome reported till date.   Conclusion: This was a rare syndrome and did not match fully with any known syndromes till date. This case warranted further investigation for its definite diagnosis but we do not have resources to that extent.

  11. Supernumerary teeth: review of literature and decision support system.

    Science.gov (United States)

    Amarlal, Deepti; Muthu, M S

    2013-01-01

    Supernumerary teeth are those which are additional or in excess of the normal number. They can be either single or multiple, unilateral or bilateral and can be present anywhere in the dental arch with predilection for the premaxilla. Supernumerary teeth are mostly classified on position and form. Timing of surgical intervention of supernumerary teeth has been controversial with various authors having different opinions. Hence a new decision support system is put forward which can help in the treatment planning of supernumerary teeth.

  12. Rare molariform supernumerary teeth: Why are they bilateral?

    Directory of Open Access Journals (Sweden)

    Parul Jain

    2017-01-01

    Full Text Available Anterior supernumerary teeth in the permanent dentition may be supplemental or rudimentary. Rudimentary types are further classified as conical, tuberculate, and molariform. The molariform type has been only rarely reported. We report a rare variety of anterior supernumerary teeth - the molariform type, occurring bilaterally and in association with a midline supernumerary tooth. We also suggest a hypothesis for the bilateral occurrence of supernumerary teeth.

  13. The management of premolar supernumeraries in three orthodontic cases.

    LENUS (Irish Health Repository)

    McNamara, C M

    1997-01-01

    This paper reviews the incidence, etiology and location of supernumerary teeth with emphasis on premolar supernumeraries and examines the management of supernumerary premolars of three patients undergoing orthodontics. These cases demonstrate that the management of premolars is assessed individually and treatments based on potential complications, which may occur during the orthodontic and surgical management of the dentition. Progress and posttreatment radiographs are recommended for the assessment of late forming supernumerary teeth.

  14. Delayed formation of multiple supernumerary teeth

    Directory of Open Access Journals (Sweden)

    Yai-Tin Lin

    2009-09-01

    Full Text Available Multiple supernumerary teeth in either the maxillary anterior or premolar region can cause uneruption or impaction of the succedaneous permanent teeth. Supernumerary premolars are special in terms of their late development and recurrence. This case report details the use of multiple phases of orthodontic traction in order to obtain ideal clinical results. An 8-year 4-month-old healthy boy had an impacted left upper central incisor and multiple supernumerary teeth among the incisors and premolars. The impacted incisor was successfully moved to its proper position by orthodontic traction and a closed eruption technique. One year later, surgical extraction of three supernumerary premolars was performed. The same traction procedure with the closed eruption technique was successfully used to pull the mandibular left first premolar into its occlusion. A normal appearance of the anterior teeth and posterior occlusion were achieved after two phases of orthodontic traction. The exposed incisor and premolar presented a proper gingival contour and acceptable attached gingiva. Multiple supernumerary teeth can cause multiple sites of unerupted permanent teeth that make the treatment procedures variable and complicated. The impacted teeth can be moved to their proper position by multiple phases of orthodontic traction and a closed eruption technique.

  15. Immune therapeutic potential of stem cells from human supernumerary teeth.

    Science.gov (United States)

    Makino, Y; Yamaza, H; Akiyama, K; Ma, L; Hoshino, Y; Nonaka, K; Terada, Y; Kukita, T; Shi, S; Yamaza, T

    2013-07-01

    Discoveries of immunomodulatory functions in mesenchymal stem cells (MSCs) have suggested that they might have therapeutic utility in treating immune diseases. Recently, a novel MSC population was identified from dental pulp of human supernumerary teeth, and its multipotency characterized. Herein, we first examined the in vitro and in vivo immunomodulatory functions of human supernumerary tooth-derived stem cells (SNTSCs). SNTSCs suppressed not only the viability of T-cells, but also the differentiation of interleukin 17 (IL-17)-secreting helper T (Th17)-cells in in vitro co-culture experiments. In addition, systemic SNTSC transplantation ameliorated the shortened lifespan and elevated serum autoantibodies and nephritis-like renal dysfunction in systemic lupus erythematosus (SLE) model MRL/lpr mice. SNTSC transplantation also suppressed in vivo increased levels of peripheral Th17 cells and IL-17, as well as ex vivo differentiation of Th17 cells in MRL/lpr mice. Adoptive transfer experiments demonstrated that SNTSC-transplanted MRL/lpr mouse-derived T-cell-adopted immunocompromised mice showed a longer lifespan in comparison with non-transplanted MRL/lpr mouse-derived T-cell-adopted immunocompromised mice, indicating that SNTSC transplantation suppresses the hyper-immune condition of MRL/lpr mice through suppressing T-cells. Analysis of these data suggests that SNTSCs are a promising MSC source for cell-based therapy for immune diseases such as SLE.

  16. Phenotypic characterization of derivative 22 syndrome: case series ...

    Indian Academy of Sciences (India)

    DEEPTI SAXENA

    2018-03-05

    Mar 5, 2018 ... Abstract. Emanuel syndrome is caused due to an additional derivative chromosome 22 and is characterized by severe intellectual disability, microcephaly, failure to thrive, preauricular tags or pits, ear anomalies, cleft or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects and ...

  17. Supernumerary teeth: Report of four unusual cases

    Directory of Open Access Journals (Sweden)

    Arun Kumar

    2012-01-01

    Full Text Available Supernumerary tooth denotes duplication of tooth in the normal series. It is a developmental anomaly and has been argued to arise from multiple etiologies. These teeth may remain embedded in the alveolar bone or can erupt into the oral cavity. The supernumerary tooth might cause esthetic and/or functional problems, especially if it is situated in the maxillary anterior region. Complications reported were delayed or prevented eruption of succedaneous teeth, displacement or rotation, crowding of the affected region, abnormal diastema, dilacerations, cystic formation, and sometime eruption into the nasal cavity. In this case report, four unusual cases of supernumerary teeth that resulted in varying degrees of disturbances in permanent dentition are presented. Conservative surgical intervention and light orthodontic forces were used to bring the teeth into normal position with minimal disturbance to the surrounding oral structures.

  18. Tuberculate and odontoma type supernumerary teeth.

    Science.gov (United States)

    Tarján, Ildikó; Gyulai, Szabolcs G; Soós, Attila; Rózsa, Noémi

    2005-11-01

    An 8-and-a-half-year-old girl with supernumerary teeth of tuberculate and odontoma type is described. Treatment of the patient is carried out on conventional lines with a combination of surgical and orthodontic methods. The upper tuberculate type supernumerary teeth were extracted and, after surgical exposure, the upper permanent first incisors were aligned with removable appliances. After secondary dentition was completed, the lower odontoma type supernumerary tooth was removed surgically, and also the maxillary and mandibular first premolars were extracted because of severe crowding, and fixed orthodontic appliances were used to align the permanent dentition. Early diagnosis and treatment of this anomaly is necessary to avoid more serious consequences and to prevent severe orthodontic disturbances.

  19. Laparoscopic management of tumor in supernumerary ovary

    Directory of Open Access Journals (Sweden)

    Ved Prakash

    2016-01-01

    Full Text Available Laparoscopic management of most of the adnexal masses has become feasible in the present era of advancing endoscopic techniques. A postmenopausal lady presented with lump in the abdomen, appeared to be a solid ovarian mass on ultrasound, and magnetic resonance imaging. On laparoscopy, both the ovaries were normal and the mass was not connected to uterus or adnexa. The mass was removed and histopathology confirmed it to be ovarian tissue thus confirming it to be a tumor in a supernumerary ovary. Examples of supernumerary ovary are among the rarest of gynecological abnormalities.

  20. Embedded supernumerary teeth: The hidden troubles

    Directory of Open Access Journals (Sweden)

    Arati Panchbhai

    2015-01-01

    Full Text Available Supernumerary teeth or Hyperdontia is reported to be more common in the permanent dentition than deciduous dentition. The incidence of hyperdontia is found to be in the range of 0.1-3.8%. The timely diagnosis and therapeutic interventions may avoid the unwanted complications.

  1. Supernumerary maxillary and Mandibular Fourth Molars.

    Science.gov (United States)

    1981-09-23

    being the most common. Other areas, in the order of frequency, are molars (fourth), lateral incisors, premolars and cuspids. In the mandibular arch, the... premolar area is the most common site for supernumerary teeth followed by the molar (fourth) 3 and central incisor area, and cuspid region. Numerous

  2. Phenotypic variability of the cat eye syndrome. Case report and review of the literature.

    Science.gov (United States)

    Rosias, P R; Sijstermans, J M; Theunissen, P M; Pulles-Heintzberger, C F; De Die-Smulders, C E; Engelen, J J; Van Der Meer, S B

    2001-01-01

    We present a male infant with preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome. The clinical features in our patient show phenotypic overlap with the cat eye syndrome, as illustrated by the review of 105 reported cases. Cytogenetic analysis revealed a supernumerary marker chromosome, which was identified by microdissection and fluorescence in situ hybridization as an isodicentric chromosome 22(pter --> q11.2::q11.2 --> pter). It was proved with probes specific for the cat eye syndrome critical region that this region was present in quadruplicate in the propositus. We conclude that CES is characterized by large phenotypic variability, ranging from near normal to severe malformations, as reflected in the neurodevelopmental outcome. Preauricular skin tags and/or pits are the most consistent features, and suggest the presence of a supernumerary bisatellited marker chromosome 22 derived from duplication of the CES critical region.

  3. Multiple maxillary and mandibular supernumerary teeth in twins: 5-year follow-up

    OpenAIRE

    Liu, Jeng-Fen; Chen, Hui-Ling

    2014-01-01

    This is a case report of multiple supernumerary teeth of identical twins with 5 years of follow-up. The occurrence of supernumerary teeth in twins is an unusual event. This case report describes 7-year-old Taiwanese twin brothers who both presented with multiple supernumerary teeth in the premaxillary and mandibular premolar regions. The supernumerary premolars developed much later than the premaxillary supernumerary teeth in these twins. The supernumerary premolars caused impaction of the ma...

  4. Bilateral Supernumerary Teeth in Deciduous Dentition-A Rarity

    OpenAIRE

    Acharya, Sonu; Ghosh, Chiranjit; Mondal, Pradeep Kumar

    2014-01-01

    Supernumerary teeth are considered as one of the most significant dental anomalies during the primary and early mixed dentition stages. They are of great concern to the dentists and parents because of the eruption, occlusal, and esthetic problems they can cause. Supernumerary teeth occur more frequently in the permanent dentition but rarely in primary dentition and more often seen in males. A supernumerary tooth in the primary dentition can cause ectopic or delayed eruption of permanent centr...

  5. Canaliculitis in supernumerary puncta and canaliculi

    Directory of Open Access Journals (Sweden)

    Ku Chui Yong

    2011-08-01

    Full Text Available We report the first case of supernumerary puncta and canaliculi presented with canaliculitis. A-59 year-old gentleman presented with painful swelling of the left lower lid for a week, which was associated with epiphora. The swelling was confined to the nasal aspect of the left lower lid (0.5¥0.5 mm with inflamed overlying skin. Two puncta (0.5 mm apart were noted. The outer punctum at the normal anatomical position was a cul-de-sac while the inner punctum it the caruncle was patent. We described the embryology leading to supernumerary puncta and canaliculi to explain the paradoxical patency of the abnormally located punctum as well as the pathomechanism leading to canaliculitis. The patient was treated with oral cloxacillin 500 mg, 6 hourly for 5 days; the cellulitis subsided after three days.

  6. FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients.

    Science.gov (United States)

    Bettio, D; Rizzi, N; Giardino, D; Gurrieri, F; Silvestri, G; Grugni, G; Larizza, L

    1997-01-10

    A small supernumerary chromosome was observed in two Prader-Willi syndrome (PWS) patients. The clinical diagnosis of PWS was confirmed by the ascertainment of the deletion of region 15q11-13 in one case and uniparental disomy (UPD) of the same region in the other. The markers were negative for dystamycinA/DAPI banding, did not contain NOR-positive satellites, and had an appearance consistent with a very small ring chromosome. Fluorescent in situ hybridization (FISH) analysis with the "all human centromere" probe indicated the presence of centromeric sequences in both markers. Chromosomal in situ suppression hybridization with chromosome specific libraries demonstrated that the small markers in the deleted and UPD patient originated from chromosome 15 and X, respectively. To the best of our knowledge these are the only PWS patients reported with a supernumerary marker chromosome other than inv dup(15) characterized by FISH.

  7. Supernumerary teeth: Review of literature and decision support system

    Directory of Open Access Journals (Sweden)

    Deepti Amarlal

    2013-01-01

    Full Text Available Supernumerary teeth are those which are additional or in excess of the normal number. They can be either single or multiple, unilateral or bilateral and can be present anywhere in the dental arch with predilection for the premaxilla. Supernumerary teeth are mostly classified on position and form. Timing of surgical intervention of supernumerary teeth has been controversial with various authors having different opinions. Hence a new decision support system is put forward which can help in the treatment planning of supernumerary teeth.

  8. The effects of impacted premaxillary supernumerary teeth on permanent incisors.

    Science.gov (United States)

    Jung, Yun-Hoa; Kim, Ji-Yeon; Cho, Bong-Hae

    2016-12-01

    The aim of this study was to examine the radiographic features associated with impacted premaxillary supernumerary teeth, to determine the relationship between their characteristics and their effects on permanent incisors, and to investigate the types of orthodontic treatment that patients received after the extraction of impacted supernumerary teeth. The clinical records and radiographs of 193 patients whose impacted premaxillary supernumerary teeth were removed were retrospectively reviewed, and 241 impacted supernumerary teeth were examined. Cone-beam computed tomographic images and panoramic radiographs were examined to determine the number, location, sagittal position, orientation, and morphology of the supernumerary teeth. Their effects on permanent incisors and the orthodontic treatment received by patients after the extraction of the supernumeraries were also investigated. Supernumerary teeth were most frequently observed in the central incisor region, in the palatal position, in the inverted orientation, and were most commonly conical in shape. The most common complication was median diastema, followed by displacement and delayed eruption of the adjacent incisors. Ten (71.4%) of the 14 odontomas showed delayed eruption of the adjacent incisors. Displacement of the incisors was more frequently observed in association with supernumerary teeth with tuberculate or supplemental shapes. Orthodontic traction was most frequently performed after the removal of odontomas. In 32 cases (13.3%), permanent incisors erupted after the orthodontic creation of sufficient space. Median diastema was most common complication. The delayed eruption of incisors was common in supernumerary teeth with a vertical orientation and an odontoma shape.

  9. Prevalence, etiology, diagnosis, treatment and complications of supernumerary teeth.

    Science.gov (United States)

    Ata-Ali, Fadi; Ata-Ali, Javier; Peñarrocha-Oltra, David; Peñarrocha-Diago, Miguel

    2014-10-01

    The aim of this article was to review the literature on supernumerary teeth, analyzing their prevalence, etiology, diagnosis, treatment and possible complications. An electronic search was made in the Pubmed-Medline database up to January 2014 using the key search terms "multiple supernumerary teeth" (n=279), "prevalence supernumerary teeth" (n=361), and "supernumerary teeth" (n=2412). In addition to the articles initially identified, others were included in the review proceeding from a manual search and from any references considered of relevance. Supernumerary teeth are those that exceed the normal dental formula. They are more common in men, more common in the upper maxilla, and more prevalent in permanent dentition. Complications associated with supernumerary teeth include dental impaction, delayed eruption, ectopic eruption, overcrowding, spacing anomalies and the formation of follicular cysts. The treatment of supernumerary teeth depends on their type, position, and possible complications, detected clinically and radiographically. No clear consensus exists as to the best time to extract unerupted supernumerary teeth. Key words:Hyperdoncia, supernumerary teeth, impacted teeth, treatment, permanent teeth, deciduous teeth.

  10. The effects of impacted premaxillary supernumerary teeth on permanent incisors

    Energy Technology Data Exchange (ETDEWEB)

    Jung, Yun Hoa; Kim, Ji Yeon; Cho, Bong Hae [School of Dentistry, Pusan National University, Yangsan (Korea, Republic of)

    2016-12-15

    The aim of this study was to examine the radiographic features associated with impacted premaxillary supernumerary teeth, to determine the relationship between their characteristics and their effects on permanent incisors, and to investigate the types of orthodontic treatment that patients received after the extraction of impacted supernumerary teeth. The clinical records and radiographs of 193 patients whose impacted premaxillary supernumerary teeth were removed were retrospectively reviewed, and 241 impacted supernumerary teeth were examined. Cone-beam computed tomographic images and panoramic radiographs were examined to determine the number, location, sagittal position, orientation, and morphology of the supernumerary teeth. Their effects on permanent incisors and the orthodontic treatment received by patients after the extraction of the supernumeraries were also investigated. Supernumerary teeth were most frequently observed in the central incisor region, in the palatal position, in the inverted orientation, and were most commonly conical in shape. The most common complication was median diastema, followed by displacement and delayed eruption of the adjacent incisors. Ten (71.4%) of the 14 odontomas showed delayed eruption of the adjacent incisors. Displacement of the incisors was more frequently observed in association with supernumerary teeth with tuberculate or supplemental shapes. Orthodontic traction was most frequently performed after the removal of odontomas. In 32 cases (13.3%), permanent incisors erupted after the orthodontic creation of sufficient space. Median diastema was most common complication. The delayed eruption of incisors was common in supernumerary teeth with a vertical orientation and an odontoma shape.

  11. The effects of impacted premaxillary supernumerary teeth on permanent incisors

    International Nuclear Information System (INIS)

    Jung, Yun Hoa; Kim, Ji Yeon; Cho, Bong Hae

    2016-01-01

    The aim of this study was to examine the radiographic features associated with impacted premaxillary supernumerary teeth, to determine the relationship between their characteristics and their effects on permanent incisors, and to investigate the types of orthodontic treatment that patients received after the extraction of impacted supernumerary teeth. The clinical records and radiographs of 193 patients whose impacted premaxillary supernumerary teeth were removed were retrospectively reviewed, and 241 impacted supernumerary teeth were examined. Cone-beam computed tomographic images and panoramic radiographs were examined to determine the number, location, sagittal position, orientation, and morphology of the supernumerary teeth. Their effects on permanent incisors and the orthodontic treatment received by patients after the extraction of the supernumeraries were also investigated. Supernumerary teeth were most frequently observed in the central incisor region, in the palatal position, in the inverted orientation, and were most commonly conical in shape. The most common complication was median diastema, followed by displacement and delayed eruption of the adjacent incisors. Ten (71.4%) of the 14 odontomas showed delayed eruption of the adjacent incisors. Displacement of the incisors was more frequently observed in association with supernumerary teeth with tuberculate or supplemental shapes. Orthodontic traction was most frequently performed after the removal of odontomas. In 32 cases (13.3%), permanent incisors erupted after the orthodontic creation of sufficient space. Median diastema was most common complication. The delayed eruption of incisors was common in supernumerary teeth with a vertical orientation and an odontoma shape

  12. Bilateral supernumerary teeth in deciduous dentition-a rarity.

    Science.gov (United States)

    Acharya, Sonu; Ghosh, Chiranjit; Mondal, Pradeep Kumar

    2014-05-01

    Supernumerary teeth are considered as one of the most significant dental anomalies during the primary and early mixed dentition stages. They are of great concern to the dentists and parents because of the eruption, occlusal, and esthetic problems they can cause. Supernumerary teeth occur more frequently in the permanent dentition but rarely in primary dentition and more often seen in males. A supernumerary tooth in the primary dentition can cause ectopic or delayed eruption of permanent central incisors which will further alter occlusion and may compromise esthetics and formation of dentigerous cysts. Here we discuss a case of bilateral supernumerary teeth in deciduous dentition in a female child.

  13. Variabilidade fenotípica na síndrome do cromossomo supernumerário der(22t(11;22 (síndrome de Emanuel Phenotypical variability in supernumerary chromosome der(22t(11;22 syndrome (Emanuel syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano M. Rosa

    2010-09-01

    Full Text Available OBJETIVO: Relatar dois pacientes com a síndrome de Emanuel (SE ou cromossomo supernumerário der(22t(11;22, secundária a translocações balanceadas familiares, apresentando fenótipos distintos. DESCRIÇÃO DE CASO: O primeiro paciente é uma menina branca de cinco anos de idade, apresentando hipotonia, atraso no desenvolvimento neuropsicomotor, movimentos estereotipados, microcefalia, ptose palpebral, orelhas proeminentes, fossetas e apêndices pré-auriculares, e imperfuração anal. As avaliações adicionais identificaram hipoplasia cerebral e estenose da válvula pulmonar. Possuía história também de laringotraqueomalácia e fenda palatina. O segundo paciente é um menino branco de seis meses de idade com hipotonia, movimentos coreoatetóticos, déficit de crescimento, microcefalia, microssomia hemifacial, fenda palatina, microtia, apêndices pré-auriculares e polegares proximalmente implantados. A ecocardiografia demonstrou estenose da válvula pulmonar, comunicação interatrial e interventricular, persistência do canal arterial e da veia cava superior esquerda. A radiografia de tórax identificou uma costela cervical. O cariótipo por bandas GTG mostrou a presença, em ambos os pacientes, de um cromossomo adicional der(22t(11;22, secundário a uma translocação balanceada materna no primeiro caso e paterna no segundo caso. COMENTÁRIOS: Apesar de a primeira paciente apresentar achados frequentes da SE, o caso adicional representa a segunda descrição da literatura com um fenótipo de espectro óculo-aurículo-vertebral (EOAV. Assim, ambos salientam a variabilidade clínica observada na SE e a importância da avaliação cariotípica em indivíduos com fenótipo de EOAV.OBEJECTIVE: To report two patients with Emanuel syndrome (ES or supernumerary chromosome der(22t(11;22, secondary to familial balanced translocations, presenting distinct phenotypes. CASES DESCRIPTION: The first patient was a five-year-old white girl presenting

  14. Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.

    Science.gov (United States)

    Melo, Cláudia; Gama-de-Sousa, Susana; Almeida, Filipa; Rendeiro, Paula; Tavares, Purificação; Cardoso, Helena; Carvalho, Sónia

    2013-10-15

    Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable phenotype comprising anal atresia, coloboma of the iris and preauricular tags or pits. We report a girl with cat eye syndrome, presenting short stature, with growth hormone deficiency due to posterior pituitary ectopia. Short stature is a common feature of this syndrome, and the association with a structural pituitary anomaly has been described, however growth hormone deficiency and the underlying mechanisms are rarely reported. A review on short stature and growth hormone deficiency in cat eye syndrome is conducted. © 2013 Elsevier B.V. All rights reserved.

  15. supernumerary teeth, polimorfisme gen vitamin D reseptor (VDR)

    OpenAIRE

    ASMAWATI

    2014-01-01

    Latar Belakang: Anomali gigi supernumerary teeth adalah kelainan bentuk dan jumlah gigi yang dapat menyebabkan masalah maloklusi, menganggu estetik dan deviasi ordinat gigi. Pada kondisi yang tidak erupsi dapat menyebabkan ameloblastoma dan odontogenic neoplasma. Adanya dugaan kuat faktor herediter sebagai penyebab terjadinya sehingga memerlukan penelitian genetik molekuler untuk membuktikan faktor genetik sebagai faktor risiko terjadinya supernumerary teeth,sehingga meningkatkan optimalisa...

  16. The incidence and pattern of supernumerary digital flexion creases ...

    African Journals Online (AJOL)

    The incidence and pattern of supernumerary digital flexion creases amongst the population of Ekpoma in Edo, Nigeria. ... This study on the incidence of supernumerary digital flexion crease was carried out among undergraduate students in the faculty of Basic Medical Sciences, College of Medicine, Ambrose Alli University, ...

  17. Dentigerous cyst associated with an impacted anterior maxillary supernumerary tooth.

    Science.gov (United States)

    Shah, Kaushal Mahendra; Karagir, Amol; Adaki, Shridevi; Pattanshetti, Channaveer

    2013-01-31

    Most typical dentigerous cysts are commonly seen in association with third molars and maxillary canines. Only 5-6% of dentigerous cysts are associated with supernumerary teeth. We report a rare case of dentigerous cyst associated with an impacted anterior maxillary supernumerary tooth. The patient was treated surgically by enucleation of the cyst.

  18. Tuberculate Supernumerary Teeth: Report of A Case Showing ...

    African Journals Online (AJOL)

    Tuberculate supernumerary teeth are found in the maxillary anterior region. They usually result in oral problems such as malocclusion, food impaction, poor aesthetics and cyst formation. There is paucity of literature on this anomaly in our environment. This paper describes a case of tuberculate supernumerary teeth with ...

  19. Supernumerary kidney in a child with OEIS complex.

    Science.gov (United States)

    Janda, Gregory M; Nepple, Kenneth G; Cooper, Christopher S; Austin, J Christopher

    2009-08-01

    Supernumerary kidney and cloacal exstrophy are rare anomalies of the genitourinary tract. We present an exceedingly rare case of a supernumerary third kidney discovered by antegrade nephrostography of a 6-month-old child with OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects).

  20. Misdiagnosis of an impacted supernumerary tooth from a panographic radiograph.

    Science.gov (United States)

    McVaney, T P; Kalkwarf, K L

    1976-05-01

    A panographic radiograph of a 31-year-old man revealed the presence of an impacted supernumerary paramolar. Periapical radiographs of the same area failed to confirm the existence of this supernumerary tooth. A review of the inherent distortion factors present in panographic radiography leading to the misdiagnosis is discussed.

  1. Supernumerary primary teeth and the clinical significance: a report ...

    African Journals Online (AJOL)

    Supernumerary teeth occur frequently in the permanent dentition but they are rare in the primary dentition. Supernumerary teeth in the primary dentition usually erupt normally and are frequently of the supplemental type. The issue of differentiating the supplemental tooth from the normal series requires careful consideration.

  2. Multilobed mesiodens: a supernumerary tooth with unusual morphology.

    Science.gov (United States)

    Dave, Bhavna; Patel, Jalark; Swadas, Milan; Mallikarjuna, Rachappa

    2013-02-06

    An 8-year-old boy came with a chief complaint of an abnormally shaped tooth situated in upper front teeth region. On examination a supernumerary tooth with multiple lobes was present palatally to the maxillary right permanent central incisor. The morphology of the tooth crown was found to be unusual due to the presence of five lobes in the crown portion. Because of the supernumerary tooth, the permanent right central incisor was displaced labially. Radiographic examination showed a completely formed supernumerary tooth with dilacerated root. On the basis of clinical and radiographic examination, the supernumerary tooth was diagnosed as multilobed mesiodens. Since patient expressed dissatisfaction with the presence of supernumerary tooth, it was decided to extract this mesiodens followed by orthodontic treatment for alignment of labially placed maxillary right permanent central incisor.

  3. Bilaterally impacted mandibular supernumerary premolars associated with unusual clinical complications

    Directory of Open Access Journals (Sweden)

    Zameer Pasha

    2013-01-01

    Full Text Available Supernumerary teeth are extra teeth in comparison to the normal dentition. Their prevalence varies between 0.1% and 3.8%. Supernumeraries are more common in permanent dentition and its incidence is higher in maxillary incisor region, followed by maxillary third molar and mandibular molar, premolar, canine, and lateral incisor. The prevalence of supernumerary premolars is between 0.075-0.26%, and they may occur in single or multiple numbers Bilateral occurrence is uncommon and large percentage of supernumerary premolars remains impacted, unerupted, and usually asymptomatic; radiograph plays an important role in diagnosis of these. The present paper reports a case of bilaterally impacted completely developed supernumerary premolars associated with common clinical complication in unusual manner along with taurodontism of the upper and lower molars.

  4. Impacted supernumerary tooth in coronoid process: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Won Se; Lee, Je Ho; Park, Hyok; Jung, Ho Gul; Kim, Kee Deog [Yonsei University College of Dentistry, Seoul (Korea, Republic of)

    2010-06-15

    Impaction of tooth is a situation in which an unerupted tooth is wedged against another tooth or teeth or otherwise located so that it cannot erupt normally. The supernumerary tooth is also called as hyperdontia and defined as the condition of having additional tooth to the regular number of teeth. The most common supernumerary tooth is a mesiodens, which is a mal-formed, peg-like tooth that occurs between the maxillary incisors. The supernumerary tooth is commonly impacted but they are frequently impacted on maxilla. Ectopic impaction of supernumerary tooth on mandibular condyle, coronoid process, ascending ramus, and pterygomandibular space is very rare condition. In this case, we report a case of impacted supernumerary tooth on mandibular sigmoid notch without definite pathologic change.

  5. Complex rearranged small supernumerary marker chromosomes (sSMC, three new cases; evidence for an underestimated entity?

    Directory of Open Access Journals (Sweden)

    Mkrtchyan Hasmik

    2008-04-01

    Full Text Available Abstract Background Small supernumerary marker chromosomes (sSMC are present ~2.6 × 106 human worldwide. sSMC are a heterogeneous group of derivative chromosomes concerning their clinical consequences as well as their chromosomal origin and shape. Besides the sSMC present in Emanuel syndrome, i.e. der(22t(11;22(q23;q11, only few so-called complex sSMC are reported. Results Here we report three new cases of unique complex sSMC. One was a de novo case with a dic(13 or 21;22 and two were maternally derived: a der(18t(8;18 and a der(13 or 21t(13 or 21;18. Thus, in summary, now 22 cases of unique complex sSMC are available in the literature. However, this special kind of sSMC might be under-diagnosed among sSMC-carriers. Conclusion More comprehensive characterization of sSMC and approaches like reverse fluorescence in situ hybridization (FISH or array based comparative genomic hybridization (array-CGH might identify them to be more frequent than only ~0.9% among all sSMC.

  6. Hemangioendothelioma of bone in a patient with a constitutional supernumerary marker

    DEFF Research Database (Denmark)

    Rogatto, S R; Rainho, C A; Zhang, Z M

    1999-01-01

    A 13-year old girl was diagnosed as having a bone hemangioendothelioma. Cytogenetic studies identified the presence of a small supernumerary marker chromosome in this patient. Classical cytogenetic methods using G-, C-, Ag-NOR-banding were supplemented by spectral karyotyping (SKY) and fluorescence...... in situ hybridization to reveal a karyotype 47,XX,+mar.ish der(22)(D22S543+) karyotype in cells derived from the tumor and lymphocytes. These findings suggest that the supernumerary marker chromosome originated from the proximal centromeric region of chromosome 22, and that trisomy of the region 22q11...... was not associated with adverse phenotypic effects, but that the presence of trisomy 22q11 may be related to the development of this tumor....

  7. A sixteen year sample of surgically treated supernumerary teeth.

    Science.gov (United States)

    Pippi, R

    2011-03-01

    Supernumerary teeth represent a numerical dental anomaly in which more teeth than the norm are present in the dentition. A sixteen year sample of supernumerary teeth has been reviewed in order to analyse epidemiological data, morphological and topographic features of these teeth, especially of those located in the praemaxillary region. All cases in which supernumerary teeth were surgically treated from 1991 to 2006 at the Oral Surgery Unit of the Sapienza University of Rome have been reviewed. 118 Caucasian subjects with supernumerary teeth have been reviewed in the range of age comprised between 5 and 42 years: 191 SNTs were collected, 136 from the upper jaw and 55 from the mandible. In the maxilla the incisor region was more frequently involved (67.65%), while in the mandible the one most frequently involved was the premolar region (69.1%). Conoid was the most frequent type of supernumerary teeth. Uneruption of the contiguous permanent teeth was the most commonly associated pathological condition, found in 81 out of the 191 cases of supernumerary teeth (40 patients, 42.4%). Tuberculated, infundibuliform and incisiform-shaped teeth caused uneruption of permanent teeth more frequently than the other morphological types of supernumerary teeth. In the upper incisor area, the extraction of SNT is mandatory as early as they are diagnosed, especially if they are tuberculated, infundibuliform and incisiform-shaped, if they are located palatally or just in the middle of the ridge and when more than one SNT is present.

  8. Multiple Impacted Permanent and Supernumerary Teeth in the Anterior Mandible of Nonsyndromic Case: A Systematic Review and Multidisciplinary Approach to Management

    Directory of Open Access Journals (Sweden)

    Pushkar Gawande

    2015-01-01

    Full Text Available Multiple impacted permanent and supernumerary teeth have been associated with the syndromes and metabolic disorders. Approximately, 75% of all the supernumerary teeth are impacted and are asymptomatic. Consequently, most such teeth constitute casual findings in the context of routine X-ray studies. Lack of eruptive force and rotation of tooth buds may cause multiple impactions, and additional examinations may be necessary to exclude systemic and metabolic conditions. We present a rare nonsyndromic case with 11 multiple impacted teeth in the anterior mandible, with systematic literature review and multidisciplinary management.

  9. Odontomas and supernumerary teeth: is there a common origin?

    Science.gov (United States)

    Pippi, Roberto

    2014-01-01

    The aim of the present work is to analyze all scientific evidence to verify whether similarities supporting a unified explanation for odontomas and supernumerary teeth exist. A literature search was first conducted for epidemiologic studies indexed by PubMed, to verify their worldwide incidence. The analysis of the literature data shows some interesting similarities between odontomas and supernumerary teeth concerning their topographic distribution and pathologic manifestations. There is also some indication of common genetic and immuno-histochemical factors. Although from a nosological point of view, odontomas and supernumeraries are classified as distinct entities, they seem to be the expression of the same pathologic process, either malformative or hamartomatous.

  10. Existence of inelastic supernumerary nuclear rainbow in 16O+12C scattering

    Science.gov (United States)

    Ohkubo, S.; Hirabayashi, Y.; Ogloblin, A. A.

    2017-08-01

    The existence of a supernumerary nuclear rainbow in inelastic scattering is reported. This is done by studying inelastic 16O scattering from 12C, exciting the 2+ (4.44 MeV) state of 12C and elastic scattering at the incident energies in the range 124-200 MeV, using the coupled channels method. An extended double folding potential is used. This is derived from realistic wave functions for 12C and 16O calculated with a microscopic α cluster model and a finite-range density-dependent nucleon-nucleon force. Excitations to the 2+ (4.44 MeV), 3- (9.64 MeV), and 4+ (14.08 MeV) states of 12C, and the 3- (6.13 MeV) and 2+ (6.92 MeV) states of 16O are included in the coupled channels calculations. The emergence of the supernumerary bow is understood by the properties of both the Luneburg-lens-like potential in the internal region and diffuse attraction in the outer region. The existence of a supernumerary rainbow for inelastic scattering in addition to the existence of a dynamically created secondary rainbow and a dynamically refracted primary rainbow for elastic scattering, which are not observed in meteorological rainbows, further deepens the understanding of nuclear rainbows.

  11. Multiple maxillary and mandibular supernumerary teeth in twins: 5-year follow-up

    Directory of Open Access Journals (Sweden)

    Jeng-Fen Liu

    2014-06-01

    Full Text Available This is a case report of multiple supernumerary teeth of identical twins with 5 years of follow-up. The occurrence of supernumerary teeth in twins is an unusual event. This case report describes 7-year-old Taiwanese twin brothers who both presented with multiple supernumerary teeth in the premaxillary and mandibular premolar regions. The supernumerary premolars developed much later than the premaxillary supernumerary teeth in these twins. The supernumerary premolars caused impaction of the mandibular first premolars. Cases with multiple supernumerary teeth in twins are unusual, especially of supernumerary teeth affecting both the premaxilla and mandible. Such cases imply that heredity plays a role in the occurrence of supernumerary teeth.

  12. Empirically derived dietary habits are associated with irritable bowel syndrome.

    Science.gov (United States)

    Zaribaf, Fatemeh; Keshteli, Ammar Hassanzadeh; Esmaillzadeh, Ahmad; Saneei, Parvane; Feizi, Awat; Daghaghzadeh, Hamed; Feinle-Bisset, Christine; Adibi, Peyman

    2018-03-13

    The associations between empirically derived dietary habits and irritable bowel syndrome (IBS) have not been investigated. This study aimed to assess the relationship between empirically derived dietary habits and IBS in a large population of Iranian adults. In a cross-sectional study, dietary habits of 4763 adults were assessed in three domains, "meal pattern", "eating rate" and "intra-meal fluid intake". We used latent class analysis to identify classes of dietary habits. IBS was defined based on ROME III criteria. IBS was prevalent in 20.3% (n = 966) of the study population. Two distinct classes of meal patterns: "regular" and "irregular", three classes of eating rates: "moderate", "moderate-to-slow" and "moderate-to-fast" and two classes of fluid ingestion with meals: "moderate" and "heavy intra-meal drinking" were identified. After adjustment for confounders, "heavy intra-meal fluid intake" was protectively associated with IBS (OR = 0.79; 95% CI:0.64-0.96). When potential confounders were considered, "meal pattern" and "eating rate" were not significantly associated with IBS in the whole population. After adjustment for confounders, women with "irregular meal pattern" had a 30% greater risk of having IBS, compared with those with "regular meal pattern" (OR = 1.30; 95% CI:1.02-1.67). Overweight participants with "fast eating rate" were 70% more likely to have IBS, compared to those with "moderate eating rate" (OR = 1.70; 95% CI:1.13-2.55). "Irregular meal pattern" was related to frequency and severity of abdominal pain. We found a significant association between heavy intra-meal fluid intake" and IBS. More large-scale prospective studies are needed to affirm this association.

  13. Clinical management of supernumerary teeth: A report of two cases

    Directory of Open Access Journals (Sweden)

    Mittal M

    2010-09-01

    Full Text Available Supernumerary tooth may closely resemble the teeth of the group to which it belongs, i.e. molars, premolars or anterior teeth, or it may bear little resemblancein size or shape to which it is associated. Many complications can be associated with supernumeraries, like impaction, delayed eruption or ectopic eruption of adjacent teeth, crowding, development of median diastema and eruption into floor of the nasal cavity. This may also cause the formation of follicular cysts with significant bone destruction. Early intervention to remove it is usually required to obtain reasonable alignment and occlusal relationship. This article will present the clinical management of an (i impacted supernumerary tooth impeding the eruption of maxillary central incisor and (ii erupted supernumerary tooth with midline diastema.

  14. Multiple Non-Syndromic Bilaterally Erupted Para Premolars in the Mandibular Arch: A Case Report

    Directory of Open Access Journals (Sweden)

    Amit Mehra

    2017-07-01

    Full Text Available Supernumerary teeth are the teeth present in addition to the normal set of teeth and are not uncommon in the general population. Presence of supernumerary teeth may affect the aesthetics of an individual and hence need appropriate management. It is however rare to find multiple supernumerary teeth which are not associated with any syndromes. Non-syndromic multiple supernumerary teeth have a predilection to occur in the mandibular premolar region. This paper reports an unusual case of an 18 year old boy with two completely erupted additional premolars on either side of the mandibular arch.

  15. Rare occurrence of bilaterally impacted mandibular supernumerary teeth

    Directory of Open Access Journals (Sweden)

    Vinay Kumar Bhardwaj

    2012-01-01

    Full Text Available Introduction: Supernumerary teeth are present in addition to the normal complement of teeth in permanent or deciduous dentitions. Incidence is high in permanent dentition, affects both the gender. They are more common in males, with the male to female ratio of 2:1. When the supernumerary teeth are causing problems such as, extensive resorption of adjacent teeth, hindering the eruption or malposition of permanent teeth, early surgical intervention is recommended. Case Report: A case of bilaterally impacted supernumerary premolars was reported when an orthopentomograph view was taken which revealed the presence of additional teeth impacted in relation to 35-36 and 45-46. Surgical removal was done as they were resorbing the roots of teeth in their vicinity. Discussion: Literature reports increased occurrence of the supernumeraries in the maxilla but supernumerary premolars are more likely to develop in the mandible. Etiology of supernumerary teeth is ambiguous and is due to following conditions:atavism or reversion, heredity, aberrations during embryologic formation, progress zone, and unified etiologic explanation.

  16. Supernumerary teeth: an investigating tool in forensic crime investigation.

    Science.gov (United States)

    Multani, Rupinder Kaur; Sangeri, Kishore Kumar; Ramalakshmi, M; Pavithra, S; Rajesh, M; Singh, Laiphrakpam Girindra

    2015-05-01

    Supernumerary tooth is an additional entity to the normal series and is seen in all the quadrants of the jaw. The prevalence rates of supernumerary teeth in the permanent dentition, reported in the literature, vary between 0.1% and 6.9%. The presence of supernumerary teeth may be part of developmental disorders. As supernumerary tooth is a rare condition, it can be used as identification tool for crime investigation. A total of 30 volunteers with a supernumerary tooth were analyzed and casts were made after taking alginate impression. All the casts were coded and were given to five observers for correct identification of those volunteers with respective prepared cast. Personal identification and the cast identification of volunteers were done (cast of the volunteers). The matching identification is followed as below: Of five observers 1(st) observer able to detect 25 (83%), 2(nd) observer 27 (90%), 3(rd) observer 26 (87%), 4(th) observer 25 (83%) and 5(th) observer 28 (91%). As positive matching identification was 87%, supernumerary tooth can be used for crime investigation and used as greatest weapon in criminal identification.

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

    Energy Technology Data Exchange (ETDEWEB)

    James, R.S.; Crolla, J.A.; Sitch, F.L. [Salisbury District Hospital, Wiltshire (United Kingdom)] [and others

    1994-09-01

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

  18. Nonsyndromic multiple supernumerary teeth: A case report of 11 supernumerary teeth

    OpenAIRE

    Balaji Krishnan; Balaji Narasimhan; C Nirupama

    2012-01-01

    Hyperdontia is an odontostomatologic anomaly characterized by an excess in both erupted and non-erupted teeth number. A23-year-old female patient reported to us with a chief complaint of malaligned teeth and inability to maintain oral hygiene. Extraoral examination did not reveal any abnormality. Intraoral examination revealed multiple supernumerary teeth in maxillary and mandibular premolar region. The teeth present were: 11, 12,13,14,16,17,18.21,22,23,24,25,26,27,28,31,32,33, 34, 35. 36, 37...

  19. Plant-derived therapeutics for the treatment of metabolic syndrome.

    Science.gov (United States)

    Graf, Brittany L; Raskin, Ilya; Cefalu, William T; Ribnicky, David M

    2010-10-01

    Metabolic syndrome is defined as a set of coexisting metabolic disorders that increase an individual's likelihood of developing type 2 diabetes, cardiovascular disease and stroke. Medicinal plants, some of which have been used for thousands of years, serve as an excellent source of bioactive compounds for the treatment of metabolic syndrome because they contain a wide range of phytochemicals with diverse metabolic effects. In order for botanicals to be effectively used against metabolic syndrome, however, botanical preparations must be characterized and standardized through the identification of their active compounds and respective modes of action, followed by validation in controlled clinical trials with clearly defined endpoints. This review assesses examples of commonly known and partially characterized botanicals to describe specific considerations for the phytochemical, preclinical and clinical characterization of botanicals associated with metabolic syndrome.

  20. Bilateral Maxillary Central Incisor Impaction associated with Developing Supernumerary Premolars in the Mandibular Arch

    Directory of Open Access Journals (Sweden)

    Mitali Mishra

    2014-01-01

    We report a case of 15-year-old girl with bilaterally impacted supernumeraries in the premaxilla region associated with asymptomatic impacted developing supernumerary premolars in the mandibular arch. The supernumeraries of premaxilla region impeded the eruption of the permanent maxillary central incisors. The impacted supernumerary tooth was surgically removed and brackets bonded to the central incisors to apply orthodontic extrusive force which brought the central incisors down to their proper position in the dental arch.

  1. Effects of supernumerary chromosomes on production of pigment in Haplopappus gracilis.

    Science.gov (United States)

    JACKSON, R C; NEWMARK, P

    1960-11-04

    One of the two types of supernumerary chromosomes found in Haplopappus gracilis effects pigment production in the achene walls. When one, two, and four supernumerary chromosomes were added to the basic complement, a corresponding increase in the amount of one type of pigment was found to occur. No overlapping of the effects on pigment production was observed among different numbers of supernumeraries or between the supernumeraries and normal chromosome complement.

  2. Small Supernumerary Marker Chromosomes in Human Infertility.

    Science.gov (United States)

    Armanet, Narjes; Tosca, Lucie; Brisset, Sophie; Liehr, Thomas; Tachdjian, Gérard

    2015-01-01

    Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be unambiguously identified by banding cytogenetics. The objective of this study was to provide an overview of sSMC frequency and characterization in a context of infertility and to review the literature describing sSMC in relation with male and female infertility. Therefore, a systematic literature review on sSMC associated with infertility was conducted by means of a PubMed literature and a sSMC database (http://ssmc-tl.com/sSMC.html) search. A total of 234 patients with infertility were identified as carriers of sSMC. All chromosomes, except chromosomes 10, 19 and the X, were involved in sSMC, and in 72% the sSMC originated from acrocentric chromosomes. Euchromatic imbalances were caused by the presence of sSMC in 30% of the cases. Putative genes have been identified in only 1.2% of sSMC associated with infertility. The implication of sSMC in infertility could be due to a partial trisomy of some genes but also to mechanical effects perturbing meiosis. Further precise molecular and interphase-architecture studies on sSMC are needed in the future to characterize the relationship between this chromosomal anomaly and human infertility. © 2015 S. Karger AG, Basel.

  3. The radiographic localization of unerupted maxillary incisors and supernumeraries

    International Nuclear Information System (INIS)

    Kim, Jae Duk; Lee, Chang Yul; You, Choong Hyun

    2003-01-01

    To evaluate the use of the vertical tube shift from a panoramic film and a periapical film to localize unerupted maxillary incisors and supernumeraries. The total of 103 displaced maxillary incisors or embedded supernumeraries were examined in this study. The vertical tube shift technique with panoramic and periapical radiography by normal projection taken and compared to localize the position of the embedded maxillary incisors or supernumeraries by a radiologist and 5 general dentists. The gold standard used for the radiographic comparisons was the true position of the embedded tooth as confirmed by horizontal tube shift technique using three periapical radiographs. The general dentist examiners were instructed on the use of the modified acronym 'SLDOBU' by the radiologist as it pertains to panoramic radiographs as the principle of vertical tube shift. All of the embedded maxillary incisors and supernumeraries were successfully located using the vertical tube shift from a panoramic and a maxillary anterior periapical radiograph by the radiologist and 5 general dentists. The use of a panoramic film with a periapical film combination for a vertical tube shift can be useful to localize unerupted maxillary incisors and supernumeraries.

  4. The radiographic localization of unerupted maxillary incisors and supernumeraries

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jae Duk; Lee, Chang Yul; You, Choong Hyun [Chosun University College of Medicine, Kwangju (Korea, Republic of)

    2003-12-15

    To evaluate the use of the vertical tube shift from a panoramic film and a periapical film to localize unerupted maxillary incisors and supernumeraries. The total of 103 displaced maxillary incisors or embedded supernumeraries were examined in this study. The vertical tube shift technique with panoramic and periapical radiography by normal projection taken and compared to localize the position of the embedded maxillary incisors or supernumeraries by a radiologist and 5 general dentists. The gold standard used for the radiographic comparisons was the true position of the embedded tooth as confirmed by horizontal tube shift technique using three periapical radiographs. The general dentist examiners were instructed on the use of the modified acronym 'SLDOBU' by the radiologist as it pertains to panoramic radiographs as the principle of vertical tube shift. All of the embedded maxillary incisors and supernumeraries were successfully located using the vertical tube shift from a panoramic and a maxillary anterior periapical radiograph by the radiologist and 5 general dentists. The use of a panoramic film with a periapical film combination for a vertical tube shift can be useful to localize unerupted maxillary incisors and supernumeraries.

  5. Multidisciplinary management of impacted central incisors due to supernumerary teeth and an associated dentigerous cyst

    OpenAIRE

    Kalaskar, Ritesh R.; Kalaskar, Ashita R.

    2011-01-01

    Supernumerary teeth are the most common developmental dental anomaly resulting from hyperactivity of dental lamina, dichotomy, environmental factor, or polygenetic process of atavism. Supernumerary teeth present classical oral complication such as impaction of adjacent teeth, crowding, diastema formation, rotation, displacement of teeth, and occlusal interference. A dentigerous cyst associated with anterior supernumerary teeth (mesiodens) is rare and accounts for 5% of all dentigerous cysts. ...

  6. Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

    Directory of Open Access Journals (Sweden)

    Hoogeboom A Jeannette M

    2010-07-01

    Full Text Available Abstract Background Several cases have been reported of patients with a ring chromosome 18 replacing one of the normal chromosomes 18. Less common are patients with a supernumerary ring chromosomes 18. High resolution whole genome examination in patients with multiple congenital abnormalities might reveal cytogenetic abnormalities of an unexpected complexity. Results We report a 24 years old male patient with lower spinal anomalies, hypospadia, bifid scrotum, cryptorchism, anal atresia, kidney stones, urethra anomalies, radial dysplasia, and a hypoplastic thumb. Some of the anomalies overlap with the VACTERL association. Chromosome analysis of cultured peripheral blood lymphocytes revealed an additional ring chromosome in 13% of the metaphases. Both parents had a normal karyotype, demonstrating the de novo origin of this ring chromosome. FISH analysis using whole chromosome paints showed that the additional chromosomal material was derived from chromosome 18. Chromosome analysis of cultured fibroblasts revealed only one cell with the supernumerary ring chromosome in the 400 analyzed. To characterize the ring chromosome in more detail peripheral blood derived DNA was analyzed using SNP-arrays. The array results indicated a 5 Mb gain of the pericentromeric region of chromosome 18q10-q11.2. FISH analysis using BAC-probes located in the region indicated the presence of 6 signals on the r(18 chromosome. In addition, microsatellite analysis demonstrated that the unique supernumerary ring chromosome was paternally derived and both normal copies showed biparental disomy. Conclusions We report on an adult patient with multiple congenital abnormalities who had in 13% of his cells a unique supernumerary ring chromosome 18 that was composed of 6 copies of the 5 Mb gene rich region of 18q11.

  7. Unique case of a geminated supernumerary tooth with trifid crown

    Energy Technology Data Exchange (ETDEWEB)

    Ather, Amber; Ather, Hunaiza; Sheth, Sanket Milan; Muliya, Vidya Saraswathi [Manipal College of Dental Sciences, Manipal (Korea, Republic of)

    2012-09-15

    Gemination, a relatively uncommon dental anomaly, is characterized by its peculiar representation as a tooth with a bifid crown and a common root and root canal. It usually occurs in primary dentition. To come across gemination in a supernumerary tooth is a rare phenomenon. The purpose of this paper is to present a unique case of hyperdontia wherein gemination in an impacted supernumerary tooth resulted in a trifid crown unlike the usual bifid crown. The role of conventional radiographs as well as computed tomography, to accurately determine the morphology and spatial location, and to arrive at a diagnosis, is also emphasized in this paper.

  8. Paramolar - A supernumerary molar: A case report and an overview.

    Science.gov (United States)

    Nayak, Gurudutt; Shetty, Shashit; Singh, Inderpreet; Pitalia, Deepti

    2012-11-01

    Paramolar is a supernumerary molar usually small and rudimentary, most commonly situated buccally or palatally to one of the maxillary molars. Paramolar is a developmental anomaly and has been argued to arise from a combination of genetic and environmental factors. Reports of this entity are rarely found in the dental literature. This article presents a case report of an unusual occurrence of a paramolar in the maxilla in otherwise a healthy individual. In addition, literature review, prevalence, classification, etiology, complications, diagnosis, and therapeutic strategies that may be adopted when supernumeraries occurs have been discussed.

  9. Paramolar - A supernumerary molar: A case report and an overview

    Directory of Open Access Journals (Sweden)

    Gurudutt Nayak

    2012-01-01

    Full Text Available Paramolar is a supernumerary molar usually small and rudimentary, most commonly situated buccally or palatally to one of the maxillary molars. Paramolar is a developmental anomaly and has been argued to arise from a combination of genetic and environmental factors. Reports of this entity are rarely found in the dental literature. This article presents a case report of an unusual occurrence of a paramolar in the maxilla in otherwise a healthy individual. In addition, literature review, prevalence, classification, etiology, complications, diagnosis, and therapeutic strategies that may be adopted when supernumeraries occurs have been discussed.

  10. Supernumerary Teeth in Primary Dentition and Early Intervention: A Series of Case Reports

    Science.gov (United States)

    Bahadure, Rakesh N.; Thosar, Nilima; Jain, Eesha S.; Kharabe, Vidhi; Gaikwad, Rahul

    2012-01-01

    Supernumerary teeth are considered as one of the most significant dental anomalies during the primary and early mixed dentition stages. They are of great concern to the dentists and parents because of the eruption, occlusal, and esthetic problems they can cause. Supernumerary teeth occur more frequently in the permanent dentition but rarely in primary dentition. Mesiodens is the most common type of supernumerary teeth but rarely seen in lower arch. Early recognition and diagnosis of supernumerary teeth is important to prevent further complications in permanent dentition. Four cases of supernumerary teeth with mesiodens in upper and lower arch in primary dentition and their management have been discussed. PMID:22888456

  11. Supernumerary teeth in primary dentition and early intervention: a series of case reports.

    Science.gov (United States)

    Bahadure, Rakesh N; Thosar, Nilima; Jain, Eesha S; Kharabe, Vidhi; Gaikwad, Rahul

    2012-01-01

    Supernumerary teeth are considered as one of the most significant dental anomalies during the primary and early mixed dentition stages. They are of great concern to the dentists and parents because of the eruption, occlusal, and esthetic problems they can cause. Supernumerary teeth occur more frequently in the permanent dentition but rarely in primary dentition. Mesiodens is the most common type of supernumerary teeth but rarely seen in lower arch. Early recognition and diagnosis of supernumerary teeth is important to prevent further complications in permanent dentition. Four cases of supernumerary teeth with mesiodens in upper and lower arch in primary dentition and their management have been discussed.

  12. Supernumerary Teeth in Primary Dentition and Early Intervention: A Series of Case Reports

    Directory of Open Access Journals (Sweden)

    Rakesh N. Bahadure

    2012-01-01

    Full Text Available Supernumerary teeth are considered as one of the most significant dental anomalies during the primary and early mixed dentition stages. They are of great concern to the dentists and parents because of the eruption, occlusal, and esthetic problems they can cause. Supernumerary teeth occur more frequently in the permanent dentition but rarely in primary dentition. Mesiodens is the most common type of supernumerary teeth but rarely seen in lower arch. Early recognition and diagnosis of supernumerary teeth is important to prevent further complications in permanent dentition. Four cases of supernumerary teeth with mesiodens in upper and lower arch in primary dentition and their management have been discussed.

  13. Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth

    Science.gov (United States)

    Nieminen, Pekka; Morgan, Neil V.; Fenwick, Aimée L.; Parmanen, Satu; Veistinen, Lotta; Mikkola, Marja L.; van der Spek, Peter J.; Giraud, Andrew; Judd, Louise; Arte, Sirpa; Brueton, Louise A.; Wall, Steven A.; Mathijssen, Irene M.J.; Maher, Eamonn R.; Wilkie, Andrew O.M.; Kreiborg, Sven; Thesleff, Irma

    2011-01-01

    Craniosynostosis and supernumerary teeth most often occur as isolated developmental anomalies, but they are also separately manifested in several malformation syndromes. Here, we describe a human syndrome featuring craniosynostosis, maxillary hypoplasia, delayed tooth eruption, and supernumerary teeth. We performed homozygosity mapping in three unrelated consanguineous Pakistani families and localized the syndrome to a region in chromosome 9. Mutational analysis of candidate genes in the region revealed that all affected children harbored homozygous missense mutations (c.662C>G [p.Pro221Arg], c.734C>G [p.Ser245Cys], or c.886C>T [p.Arg296Trp]) in IL11RA (encoding interleukin 11 receptor, alpha) on chromosome 9p13.3. In addition, a homozygous nonsense mutation, c.475C>T (p.Gln159X), and a homozygous duplication, c.916_924dup (p.Thr306_Ser308dup), were observed in two north European families. In cell-transfection experiments, the p.Arg296Trp mutation rendered the receptor unable to mediate the IL11 signal, indicating that the mutation causes loss of IL11RA function. We also observed disturbed cranial growth and suture activity in the Il11ra null mutant mice, in which reduced size and remodeling of limb bones has been previously described. We conclude that IL11 signaling is essential for the normal development of craniofacial bones and teeth and that its function is to restrict suture fusion and tooth number. The results open up the possibility of modulation of IL11 signaling for the treatment of craniosynostosis. PMID:21741611

  14. Analyses of 1100 Supernumerary Teeth in a Nonsyndromic Turkish ...

    African Journals Online (AJOL)

    Purpose: The aim of this study was to analyze the clinical and radiological features of supernumerary teeth (ST), record the related complications, and discuss different forms of treatment. Materials and Methods: A total of 111,293 patients were examined over a 3‑year period. The patients' ages and genders, in addition to ...

  15. Supernumerary registrar experience at the University of Cape Town ...

    African Journals Online (AJOL)

    Background. Despite supernumerary registrars (SNRs) being hosted in South African (SA) training programmes, there are no reports of their experience. Objectives. To evaluate the experience of SNRs at the University of Cape Town, SA, and the experience of SNRs from the perspective of. SA registrars (SARs). Methods.

  16. Bilateral anomalies of renal pelves presenting with supernumerary ...

    African Journals Online (AJOL)

    The left kidney was observed to have dilated triangular renal pelvis with a base measuring 4cm, it was associated with supernumerary testicular veins both which drained into the left renal vein. Congenital anomalies of the renal pelvis can lead to pelvicoureteric obstruction, urinary tract infection, stone and cancer formation.

  17. Cleidocranial dysplasia presenting with retained deciduous teeth and impacted permanent and supernumerary teeth

    Directory of Open Access Journals (Sweden)

    Mahalakshmi Ikkanur Puttaranganaik

    2014-01-01

    Full Text Available Cleidocranial dysplasia is a disease that occurs secondary to a dominant autosomal inheritance. There is no predilection for any genre or ethnic group. As there is a delay in the eruption and/or absence of permanent teeth, the patients usually report to a dental surgeon for replacement of the missing teeth. This condition is characterized by several cranial malformations and underdevelopment, absence of clavicles, and multiple impacted supernumerary and permanent teeth. The diagnosis of the condition is usually based on the presence of the above-mentioned main features and on clinical and familial evidence. Here we report a rare case of cleidocranial dysplasia in a male patient, having most of the characteristic features of this syndrome.

  18. Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

    OpenAIRE

    Jedraszak, Guillaume; Receveur, Aline; Andrieux, Joris; Mathieu-Dramard, Michèle; Copin, Henri; Morin, Gilles

    2015-01-01

    Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chrom...

  19. Supernumerary and absent limbs and digits of the lower limb: a review of the literature.

    Science.gov (United States)

    Klaassen, Zachary; Shoja, Mohammadali M; Tubbs, R Shane; Loukas, Marios

    2011-07-01

    Anatomical history over centuries includes description of a wide variety of malformations involving the lower limbs. This article offers an organized review of these diverse abnormalities, including new understanding of mechanisms through recent discoveries in genetics and molecular biology. In 19th century Europe, a number of unique anomalies were reported, as well as evidence of foot amputations occurring in ancient Peruvian culture. Embryologically, the limbs develop early, with the lower limb being recognizable for the first time at stage 13 of development. By stage 23, the toes are clearly defined and by birth, although the legs appear bowed, the tibia and fibula are straight. Removal of the apical ectodermal ridge results in cessation of limb development, conversely, a second apical ectodermal ridge results in duplication of distal structures. Supernumerary limbs have been documented to occur as part of a teratoma with unique morphology and accompanying blood supply. Additionally, many examples of polydactyly occur in the foot postulating that deletion of chromosome 22q11 is involved in postaxial polydactyly. Such deletions occur near the middle of the chromosome at a location designated q11.2 (i.e., on the long arm of one of the pair of chromosomes 22) and this syndrome is also referred to as DiGeorge syndrome, which has a prevalence estimated at 1:4,000. Absence of the lower limbs has also been noted, with hypoplasia of the fibula being the most common manifestation of congenital bone absences in the lower limb. In addition to fibular aplasia, cases of tibial aplasia have been reported. This article is important for surgeons attempting correctional repair of lower limb anomalies, as well as providing analysis of the historical, anatomical and clinical aspects of supernumerary and absent limbs and digits for the lower limb. Copyright © 2011 Wiley-Liss, Inc.

  20. The detailed evaluation of supernumerary teeth with the aid of cone beam computed tomography

    International Nuclear Information System (INIS)

    Tumen, E.C.; Yavuz, I.; Atakul, F.; Tumen, D.S.; Hamamci, N.; Berber, G.; Uysal, E.

    2010-01-01

    The aim of this paper is to demonstrate the application of a recently developed three-dimensional imaging system, cone beam computed tomography, in the detailed evaluation of supernumerary teeth. Two-hundred and twenty three patients with supernumerary teeth (68 females and 155 males) were included in this study. Patients ranged in age from 12 to 25 years. Supernumerary teeth were detected by clinical examination and traditional radiographies. Moreover, careful investigation for more details was made with the cone beam computed tomography. Supernumerary teeth which were detected with the examinations of the cone beam computed tomography images were classified according to the number, location, shape and eruption rate. The prevalence of supernumerary teeth was determined to be 1.45% of the study population. Males were affected more than females in a ratio of 2.3:1. Supernumerary teeth were most frequently located in 86.2% of the cases in the maxilla; 10.1% in the mandible and 3.7% both in the maxilla and mandible. Supernumerary teeth were most commonly conical in shape (68.8%). One supernumerary tooth was present in 67.7% of the patients, 30.9% had two, and 1.4% had three supernumeraries. Definite and early diagnosis of the supernumerary teeth is very important. Detailed examinations and evaluations of these teeth with three-dimensional images is very beneficial in terms of treatment planning and preventing complications which may occur.

  1. Gene expression profiling in a mouse model identifies fetal liver- and placenta-derived potential biomarkers for Down syndrome screening

    NARCIS (Netherlands)

    Pennings, J.L.A.; Rodenburg, W.; Imholz, S.; Koster, M.P.H.; van Oostrom, C.T.M.; Breit, T.M.; Schielen, P.C.J.I.; de Vries, A.

    2011-01-01

    Background: As a first step to identify novel potential biomarkers for prenatal Down Syndrome screening, we analyzed gene expression in embryos of wild type mice and the Down Syndrome model Ts1Cje. Since current Down Syndrome screening markers are derived from placenta and fetal liver, these tissues

  2. Tetrasomy 15q12 in a patient with Angelman-like syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ringer, K. [Univ. of Missouri School of Medicine, Kansas City, MO (United States); Huang, B.; Christian, S. [National Center for Human Genome Research, Bethesda, MD (United States)] [and others

    1994-09-01

    Supernumerary psu dic(15;15) chromosomes make up approximately 40% of livebirths possessing marker chromosomes. Markers with various chromosomal contents as well as a spectrum of phenotypes have been described. A few individuals with Angelman syndrome (AS) who have paternal uniparental disomy (UPD) for chromosome 15 or a 15q12 deletion in addition to a supernumerary psu dic(15;15) have been reported. We studied a patient who had a clinical phenotype consistent with AS including ataxic gait, severe mental retardation, absent speech and inappropriate laughter. Cytogenetic and FISH analysis showed a 47,XX,+psu dic(15q12;15q12) karyotype in which the supernumerary chromosome was positive for DNA probes in the AS critical region. Additional molecular analyses confirmed the presence of four copies of the 15q11{r_arrow}13 segment and that the psu dic(15;15) was maternal in origin. Two distal chromosome 15 markers showed normal, biparental inheritance for the two normal 15 homologues. A patient similar to ours was outlined by Stupca et al., although results of DNA analyses and parental origin were not given. In both patients, tetrasomy 15q12 resulted in an AS phenotype. The significance of the ratio of maternally:paternally derived sequences, 3:1 in our case, is unknown at present.

  3. Prevalence, characteristics, and complications of supernumerary teeth in nonsyndromic pediatric population of South India: A clinical and radiographic study

    Directory of Open Access Journals (Sweden)

    Gibi Syriac

    2017-01-01

    Full Text Available Introduction: Supernumerary teeth are the presence of more number of teeth over the normal dental formula and may occur in permanent as well as early mixed dentition. This study determined the prevalence, characteristics, and complications caused by supernumerary teeth in nonsyndromic South Indian pediatric population. Materials and Methods: Characteristics of supernumerary teeth determined by clinical and radiographic examination were recorded. The age, sex, number of supernumerary teeth, eruption status, morphology, position, orientation, and complications (if any associated with supernumerary teeth were recorded for each patient who had supernumerary teeth. The data collected were statistically analyzed. Results: Supernumerary teeth were detected in 45 subjects (1.1%, of which 34 (75.6% were male and 11 (24.4% were female. There was no association between the number of supernumerary teeth and the gender of the patient. The total number of supernumerary teeth among the affected 45 patients was 54. The average number of supernumerary teeth per person was 1.2. The number of supernumerary teeth was one in 35 cases, two in 8 cases, and 3 in 1 case. Of the 45 patients, 8 patients with supernumerary teeth were in deciduous dentition stage, 29 patients were in mixed dentition stage, and 8 patients were in permanent dentition stage. Most supernumerary teeth presented in the anterior maxilla. Morphologically, conical-shaped supernumerary teeth were the most common finding. 68.5% of supernumerary teeth presented with straight orientation and inverted orientation was seen in 24.1%. Complications seen in patients with supernumerary teeth were delayed or noneruption of adjacent tooth malposition or rotation of adjacent teeth, diastema formation, and formation of dentigerous cyst. Conclusions: Supernumerary teeth have an incidence of 1.1% in South Indian population and can cause many complications that can harm the developing occlusion. Knowledge about

  4. Prevalence, Characteristics, and Complications of Supernumerary Teeth in Nonsyndromic Pediatric Population of South India: A Clinical and Radiographic Study.

    Science.gov (United States)

    Syriac, Gibi; Joseph, Elizabeth; Rupesh, S; Philip, John; Cherian, Sunu Alice; Mathew, Josey

    2017-11-01

    Supernumerary teeth are the presence of more number of teeth over the normal dental formula and may occur in permanent as well as early mixed dentition. This study determined the prevalence, characteristics, and complications caused by supernumerary teeth in nonsyndromic South Indian pediatric population. Characteristics of supernumerary teeth determined by clinical and radiographic examination were recorded. The age, sex, number of supernumerary teeth, eruption status, morphology, position, orientation, and complications (if any) associated with supernumerary teeth were recorded for each patient who had supernumerary teeth. The data collected were statistically analyzed. Supernumerary teeth were detected in 45 subjects (1.1%), of which 34 (75.6%) were male and 11 (24.4%) were female. There was no association between the number of supernumerary teeth and the gender of the patient. The total number of supernumerary teeth among the affected 45 patients was 54. The average number of supernumerary teeth per person was 1.2. The number of supernumerary teeth was one in 35 cases, two in 8 cases, and 3 in 1 case. Of the 45 patients, 8 patients with supernumerary teeth were in deciduous dentition stage, 29 patients were in mixed dentition stage, and 8 patients were in permanent dentition stage. Most supernumerary teeth presented in the anterior maxilla. Morphologically, conical-shaped supernumerary teeth were the most common finding. 68.5% of supernumerary teeth presented with straight orientation and inverted orientation was seen in 24.1%. Complications seen in patients with supernumerary teeth were delayed or noneruption of adjacent tooth malposition or rotation of adjacent teeth, diastema formation, and formation of dentigerous cyst. Supernumerary teeth have an incidence of 1.1% in South Indian population and can cause many complications that can harm the developing occlusion. Knowledge about supernumerary teeth may help the dentist in early diagnosis and early

  5. Nuclear Nox4-Derived Reactive Oxygen Species in Myelodysplastic Syndromes

    Directory of Open Access Journals (Sweden)

    Marianna Guida

    2014-01-01

    Full Text Available A role for intracellular ROS production has been recently implicated in the pathogenesis and progression of a wide variety of neoplasias. ROS sources, such as NAD(PH oxidase (Nox complexes, are frequently activated in AML (acute myeloid leukemia blasts and strongly contribute to their proliferation, survival, and drug resistance. Myelodysplastic syndromes (MDS comprise a heterogeneous group of disorders characterized by ineffective hematopoiesis, with an increased propensity to develop AML. The molecular basis for MDS progression is unknown, but a key element in MDS disease progression is the genomic instability. NADPH oxidases are now recognized to have specific subcellular localizations, this targeting to specific compartments for localized ROS production. Local Nox-dependent ROS production in the nucleus may contribute to the regulation of redox-dependent cell growth, differentiation, senescence, DNA damage, and apoptosis. We observed that Nox1, 2, and 4 isoforms and p22phox and Rac1 subunits are expressed in MDS/AML cell lines and MDS samples, also in the nuclear fractions. Interestingly, Nox4 interacts with ERK and Akt1 within nuclear speckle domain, suggesting that Nox4 could be involved in regulating gene expression and splicing factor activity. These data contribute to the elucidation of the molecular mechanisms used by nuclear ROS to drive MDS evolution to AML.

  6. BILATERAL MOLARIFORM SUPERNUMERARY TEETH IN THE ANTERIOR MAXILLA: A REPORT OF TWO CASES

    Directory of Open Access Journals (Sweden)

    Mehmet Cem ÖZDEN

    2017-01-01

    Full Text Available Supernumerary teeth are additional teeth besides the normal series and can be found in any region of the dental arch. Supernumerary teeth can be classified according to their form and locations. Early diagnosis and treatment of patients with supernumerary teeth may prevent or minimize complications. The treatment options depend on the type and position of the supernumerary tooth and its effect on the adjacent structures. Two male patients were referred to our clinic due to swelling in their maxillae and interrupted eruption of teeth. Upon radiological examination of the patients, impacted supernumerary teeth were found. Surgical removal of these teeth were perfomed and they were found to be molariform. We aim to present the two rare cases of molariform supernumerary teeth in this article.

  7. Bilateral molariform supernumerary teeth in the anterior maxilla: a report of two cases.

    Science.gov (United States)

    Ozden, Mehmet Cem; Taysi, Mert; Cankaya, A Burak; Yildirim, Mustafa Sami

    2017-01-01

    Supernumerary teeth are additional teeth besides the normal series and can be found in any region of the dental arch. Supernumerary teeth can be classified according to their form and locations. Early diagnosis and treatment of patients with supernumerary teeth may prevent or minimize complications. The treatment options depend on the type and position of the supernumerary tooth and its effect on the adjacent structures. Two male patients were referred to our clinic due to swelling in their maxillae and interrupted eruption of teeth. Upon radiological examination of the patients, impacted supernumerary teeth were found. Surgical removal of these teeth were perfomed and they were found to be molariform. We aim to present the two rare cases of molariform supernumerary teeth in this article.

  8. Impacted maxillary anterior supernumerary teeth: a survey of forty-two cases.

    Science.gov (United States)

    Yoon, Richard K; Chussid, Steven; Davis, Martin J

    2008-11-01

    The purpose of this retrospective study was to examine the location of impacted maxillary anterior supernumerary teeth that subsequently were removed from pediatric patients at Children's Hospital of New York-Presbyterian. The study population consisted of 42 children diagnosed with impacted maxillary anterior supernumerary teeth. The impacted maxillary anterior supernumerary teeth were surgically removed by one faculty member in the hospital operating room with the aid of general anesthesia between 1994 and 2000. The total number of impacted maxillary anterior supernumerary teeth was 51. All were located palatally on either side of the midline and were surgically removed from a palatal access. In the absence of clear imaging evidence to the contrary, it is recommended that the preferred surgical approach for the removal of impacted maxillary anterior supernumerary teeth should be the palatal approach. Relatedly, the term mesiodens is misleading and is generally inaccurate for describing impacted maxillary anterior supernumerary teeth. Palatodens would be a more appropriate descriptive term.

  9. Supernumerary Teeth in the Maxillary Anterior Region: The Dilemma of Early Versus Late Surgical Intervention.

    Science.gov (United States)

    Sarne, Ofer; Shapira, Yehoshua; Blumer, Sigalit; Finkelstein, Tamar; Schonberger, Shirley; Bechor, Naomi; Shpack, Nir

    Supernumerary teeth are the most common developmental dental anomalies in the maxillary anterior region causing interference to the developing permanent incisors resulting in poor dental and facial esthetics. Two different opinions regarding the timing for surgical removal of the supernumerary teeth are presented. In this case report, three brothers with supernumerary teeth in the maxillary anterior region are presented, their surgical and orthodontic management and outcome are discussed.

  10. An unusual presentation of generalized aggressive periodontitis with multiple impacted supernumerary teeth.

    Science.gov (United States)

    Salman, Arif; Meethil, Archana

    2012-07-01

    Aggressive periodontitis is a rare condition that progresses rapidly but affects only a small percentage of population. Most of the cases are familial. The presence of supernumerary teeth is also rather rare and often familial. Therefore, a concomitant presentation of aggressive periodontitis and supernumerary teeth in an individual has generated a great interest among clinicians. Here, we report a rare nonsyndromic case of generalized aggressive periodontitis with multiple impacted supernumerary teeth.

  11. Prevalence of impacted and supernumerary teeth in the North Indian population

    OpenAIRE

    Patil, Santosh; Maheshwari, Sneha

    2014-01-01

    Objectives: Dental impaction is a very frequent problem. Supernumerary teeth, or hyperdontia, are the presence of additional teeth to the normal series in the either of the dentition. The presence of impacted and/or supernumerary teeth can cause various complications. The objective of the present study was to determine the prevalence of impacted and supernumerary teeth in the North Indian population. Study Design: The panoramic radiographic records of 4750 patients attending the Department of...

  12. Supernumerary Teeth in Primary Dentition and Early Intervention: A Series of Case Reports

    OpenAIRE

    Bahadure, Rakesh N.; Thosar, Nilima; Jain, Eesha S.; Kharabe, Vidhi; Gaikwad, Rahul

    2012-01-01

    Supernumerary teeth are considered as one of the most significant dental anomalies during the primary and early mixed dentition stages. They are of great concern to the dentists and parents because of the eruption, occlusal, and esthetic problems they can cause. Supernumerary teeth occur more frequently in the permanent dentition but rarely in primary dentition. Mesiodens is the most common type of supernumerary teeth but rarely seen in lower arch. Early recognition and diagnosis of supernume...

  13. Prevalence and morphology of supernumerary teeth in the population of a Swiss community. Short communication.

    Science.gov (United States)

    Schmuckli, Regula; Lipowsky, Claudia; Peltomäki, Timo

    2010-01-01

    The objective of the study was to determine the current prevalence of supernumerary teeth (PST) in the population of a Swiss community. 3,004 orthopantomograms (OPTs) routinely produced during the annual school dental examinations in the Winterthur municipality from 1990 to 2005 served as the study basis (average age 9.45 years, 1391 girls, 1613 boys, age range 6-15 years). The study found 44 supernumerary teeth, which yields a prevalence of 1.5%. The prevalence among boys was higher than among girls, with 1.1% and 0.4%, respectively. The greatest proportion of supernumerary teeth was found in the maxillary anterior region (38 of 44 teeth, 86%). Based on their position, 33 of these were classified as mesiodens. Five supernumerary teeth had the same shape as a maxillary lateral incisor. In the mandibular anterior region, five supernumerary teeth were shaped the same as the permanent mandibular incisors. 70% of the supernumerary teeth were conical. The prevalence of supernumerary teeth is low (1.5%) and comparable to similar studies in the literature. The majority (86%) of supernumerary teeth are located in the maxillary anterior region. Thus, in the case of retention or delayed eruption, dentists should bear in mind that supernumerary teeth may be the cause.

  14. Cone beam computed tomography for diagnosis and treatment planning of supernumerary teeth.

    Science.gov (United States)

    Gurgel, Carla Vecchione; Costa, Ana Lidia Soares; Kobayashi, Tatiana Yurico; Rios, Daniela; Silva, Salete Moura Bonifacio; Machado, Maria Aperecida de Andrade Moreira; Oliveira, Thais Marchini

    2012-01-01

    Conventional radiographic images are frequently used to detect supernumerary teeth. However, recent developments in 3D imaging systems have enabled dentists to better visualize supernumerary teeth, with better contrast and more details. Cone beam computed tomography (CBCT) has improved diagnosis and treatment planning of patients with supernumerary teeth. The decision to use CBCT should be based on the diagnostic information required. This article presents three case reports of patients with supernumerary teeth to demonstrate the need for accurate diagnosis and treatment planning based on a comprehensive evaluation using CBCT.

  15. Characteristics of premaxillary supernumerary teeth in primary and mixed dentitions: a retrospective analysis of 212 cases.

    Science.gov (United States)

    Shekhar, Madiraju G

    2012-08-01

    To investigate the characteristics and distribution of premaxillary supernumerary teeth affecting primary and mixed dentitions in Indian children. This retrospective analysis included 11 200 children, aged 3-12 years, who attended a pediatric dental clinic for dental care during the period 2007-2010. The children were divided into group I (aged 3-6 years) and group II (aged 7-12 years), and data regarding maxillary anterior supernumerary teeth, diagnosed both as isolated and/or as unexpected findings during routine clinical and radiological examinations, were gathered. Pearson's χ(2) -test, with a 0.05 level of significance, was used for the analysis. The overall prevalence of premaxillary supernumerary teeth in primary and mixed dentitions was 1.9%. Single supernumerary teeth (84.9%) and conical morphology (68.7%) were commonly seen in both groups. The most common sagittal position was palatal (92.3%) among both erupted and impacted maxillary anterior supernumerary teeth. The prevalence of premaxillary supernumerary teeth in Indian children found in this study was 1.9%, with an overall male to female ratio of 1.7:1. Single supernumerary teeth, conical morphology, and erupted supernumerary teeth were the most commonly seen. Supernumerary teeth associated with clinical complications were relatively low (48%), and axial rotation or displacement of maxillary incisors was the most common sequelae. © 2012 Blackwell Publishing Asia Pty Ltd.

  16. Dentigerous cyst in a child associated with multiple inverted supernumerary teeth: a rare occurrence.

    Science.gov (United States)

    Agrawal, Neeraj K

    2012-01-01

    Dentigerous cysts associated with supernumerary teeth are rare with most of them developing around a mesiodens in the anterior maxilla. Dentigerous cysts from multiple supernumerary teeth, especially with inverted tooth, are rare in other regions of the maxilla. We report a unique case of a dentigerous cyst in a child associated with multiple inverted supernumerary teeth and relevant review of literarature. Dentigerous cyst arising from multiple supernumerary teeth and not anterior maxillary mesiodens is quite uncommon. In a child, such findings associated with inverted tooth are still rare. Such cysts should be managed by excision as soon as possible.

  17. [Evaluation of cone-beam CT in diagnosis of supernumerary teeth in the anterior maxilla].

    Science.gov (United States)

    Wen, Chenni; Li, Guo; Ren, Jiayin; Zheng, Guangning

    2012-08-01

    To evaluate the value of cone-beam CT (CBCT) in the diagnosis and orientation of supernumerary teeth in the anterior maxilla. 195 supernumerary teeth in the anterior maxilla of 146 patients were included, which were examined by CBCT. The number, shape, size, 3-dimensional position, growth direction of the supernumeraries and their relationship with the neighboring teeth were analyzed. The 146 patients aged from 5 to 39, and males were affected more than females in a ratio of 2.95:1. 102 (69.9%) patients had single supernumerary teeth. Of the 195 supernumerary teeth, 126 (64.6%) were near the middle line, 131 (67.2%) were conical, 51 (26.2%) were curved root, 98 (50.3%) were inverted and had a length of (11.97 +/- 2.40) mm. The supernumerary teeth often caused complications. The position of the supernumerary teeth is varied in the maxilla, and often causes permanent dentition complications. CBCT imaging yields accurate 3-dimensional pictures of supernumerary teeth, local dental and bony structures, which is helpful for diagnosis and orientation of supernumerary teeth.

  18. Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

    Science.gov (United States)

    Jedraszak, Guillaume; Braun, Karine; Receveur, Aline; Decamp, Matthieu; Andrieux, Joris; Rabbind Singh, Amrathlal; Copin, Henri; Bremond-Gignac, Dominique; Mathieu, Michèle; Rochette, Jacques; Morin, Gilles

    2015-10-01

    Growth hormone deficiency affects roughly between one in 3000 and one in 4000 children with most instances of growth hormone deficiency being idiopathic. Growth hormone deficiency can also be associated with genetic diseases or chromosome abnormalities. Association of growth hormone deficiency together with hypothalamic-pituitary axis malformation and Cat-Eye syndrome is a very rare condition. We report a family with two brothers presenting with growth delay due to a growth hormone deficiency associated with a polymalformation syndrome. They both displayed pre-auricular pits and tags, imperforate anus and Duane retraction syndrome. Both parents and a third unaffected son displayed normal growth pattern. Cerebral MRI showed a hypothalamic-pituitary axis malformation in the two affected brothers. Cytogenetic studies revealed a type I small supernumerary marker chromosome derived from chromosome 22 resulting in a tetrasomy 22pter-22q11.21 characteristic of the Cat-Eye syndrome. The small supernumerary marker chromosome was present in the two affected sons and the mother in a mosaic state. Patients with short stature due to growth hormone deficiency should be evaluated for chromosomal abnormality. Family study should not be underestimated. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  19. Clinical and radiological evaluation of inverse impaction of supernumerary teeth

    Science.gov (United States)

    Kurklu, Esma; Gencay, Koray; Ak, Gulsum

    2013-01-01

    Objective: To describe the clinical and radiological features of children with inverted supernumerary teeth. Study Design: Thirty eight patients with inverted supernumerary teeth (ST) were enrolled in this descriptive and restrospective study. Data from patient records including age, gender, status of dentition, number of ST, number of ST in inverted position, coexistence of ST in inverted and normal direction of eruption, location, orientation, morphology, clinical complications, management and radiography were assessed during 3-years period. Results: Thirty eight patients with a mean age of 9.10±1.97 years (range:6-13) and a strong male preponderance of 3.7:1 (male:30, female:8) had a total of 69 ST, of which 41 were in inverted position. Thirty five patients had one (92.1%) inverted tooth, whereas 3 patients had two inverted teeth per case (7.9%). All cases were located in the maxilla. Midline was the most frequent site for the single inverted supernumerary tooth in 18 (47.4%) patients, followed equally by the right and left premaxillary region in 10 patients each (26.3%). Regarding morphology, 30 patients had conical (78.9%) and 8 (21.1%) had incisiform ST. No tuberculate shaped ST was detected. There was no statistically significant difference between number of inverted teeth and delayed tooth eruption, diastema, local malocclusion, palatinal swelling (p>0.05). There was no statistically significant difference between complications and age (p>0.05). Surgical removal at the time of diagnosis with subsequent follow-up during completion of permanent dentition was the treatment approach in all cases. Conclusions: Thorough clinical examination followed by a comprehensive radiographic screening is the crucial determinant of an accurate diagnosis of an impacted ST. Early diagnosis and timely management are key factors to prevent or minimize the complications, which may influence function and esthetics of the teeth and even psychological condition of the growing

  20. Paramolar - A supernumerary molar: A case report and an overview

    OpenAIRE

    Gurudutt Nayak; Shashit Shetty; Inderpreet Singh; Deepti Pitalia

    2012-01-01

    Paramolar is a supernumerary molar usually small and rudimentary, most commonly situated buccally or palatally to one of the maxillary molars. Paramolar is a developmental anomaly and has been argued to arise from a combination of genetic and environmental factors. Reports of this entity are rarely found in the dental literature. This article presents a case report of an unusual occurrence of a paramolar in the maxilla in otherwise a healthy individual. In addition, literature review, prevale...

  1. Cat eye syndrome associated with aganglionosis of the small and large intestine.

    OpenAIRE

    Ward, J; Sierra, I A; D'Croz, E

    1989-01-01

    A newborn male infant is presented with the characteristic phenotype of the cat eye syndrome and a small supernumerary chromosome shorter than a 22. He also had complete absence of parasympathetic ganglion cells throughout the small and large intestine.

  2. Characteristics of Supernumerary Teeth in Nonsyndromic Population in an Urban Dental School Setting.

    Science.gov (United States)

    McBeain, Mackensie; Miloro, Michael

    2017-10-16

    The purpose of this study was to analyze the clinical records of all patients evaluated for supernumerary teeth at the University of Illinois-Chicago Department of Oral and Maxillofacial Surgery postgraduate clinic from January 1, 2010 to October 31, 2015 to determine the demographics of impacted supernumerary teeth among different ethnicities in the city of Chicago. A retrospective case series was completed on patients eligible for inclusion in the study who had a diagnosis of at least 1 full bony impacted supernumerary tooth (D7240). Other variables evaluated included date of surgical intervention, age at time of treatment, gender, ethnicity, location and number of supernumerary teeth present, and family history of supernumerary teeth. There were 459 male and 308 female patients (male-to-female ratio, 1.5:1). Patient ages ranged from 4 to 51 years (average, 13.1) at the time of surgery. Five hundred seventy-three patients (74.7%) were of Hispanic descent. Supernumerary teeth were found most frequently in the maxilla (69.9%), specifically in the central incisor region (526 teeth; 51.2%). Of the responding patient sample (258 patients), 53 patients (20.5%) reported a family history of supernumerary dentition. Of these 53 patients who reported a family history of supernumerary dentition, 37 (69.8%) were of Hispanic descent. Most of these Hispanic patients (83.8%) originated from Mexico. The incidence of supernumerary teeth is higher in male patients (male-to-female ratio, 1.5:1), and these teeth are most frequently found in the maxilla (69.9%), specifically the central incisor region (51.2%). A large percentage of patients (20.5%) also had first-degree relatives with a supernumerary dentition, and this fact might warrant further investigation into the possible genetics responsible for the formation of supernumerary teeth. Copyright © 2017 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  3. Prevalence, characteristics, and complications of supernumerary teeth in nonsyndromic pediatric population of South India: A clinical and radiographic study

    OpenAIRE

    Gibi Syriac; Elizabeth Joseph; S Rupesh; John Philip; Sunu Alice Cherian; Josey Mathew

    2017-01-01

    Introduction: Supernumerary teeth are the presence of more number of teeth over the normal dental formula and may occur in permanent as well as early mixed dentition. This study determined the prevalence, characteristics, and complications caused by supernumerary teeth in nonsyndromic South Indian pediatric population. Materials and Methods: Characteristics of supernumerary teeth determined by clinical and radiographic examination were recorded. The age, sex, number of supernumerary teeth, er...

  4. Radiographic Follow-Up during Orthodontic Treatment for Early Diagnosis of Sequential Supernumerary Teeth.

    Science.gov (United States)

    Suga, Selma Sano; Kruly, Paula de Castro; Garrido, Talissa Mayer; Matumoto, Marise Sano Suga; Suga, Uhana Seifert Guimarães; Terada, Raquel Sano Suga

    2016-01-01

    Most supernumerary teeth are impacted and asymptomatic. Objective. The aim of this paper is to describe two cases of sequential development of supernumerary teeth in the mandibular premolar region, identified during orthodontic treatment. Reports. The first case describes the radiographic follow-up of a female patient that presented a supernumerary tooth at the age of 9 years and 10 months in the right mandibular premolar region, followed by a further supernumerary tooth in the left mandibular premolar region identified at the age of 11 years and 3 months. In the second case, the radiographic follow-up of a male patient demonstrated 3 supernumerary teeth in the premolar region at the age of 16 years. During orthognathic surgery planning at the age of 20 years and 5 months, a supplemental supernumerary tooth was found in the left mandibular region. Conclusion. Considering the late developing of supernumerary premolars, appropriate follow-up with panoramic radiographs of patients with previous experience of supernumerary teeth is essential for early diagnosis of supplemental premolars to prevent possible complications.

  5. Diagnosis and Surgical Management of Nonsyndromic Nine Supernumerary Teeth and Leong's Tubercle.

    Science.gov (United States)

    Cruz, Christiane V; Soares, Andrea L; Braga, David N; Costa, Marcelo C

    2016-01-01

    Nonsyndromic multiple supernumerary teeth (ST) and Leong's tubercle are a condition with a very low prevalence and a multidisciplinary approach is required to restore function and aesthetics. So, this case report aimed at presenting a rare case of nonsyndromic nine supernumerary teeth and Leong's tubercle in a pediatric patient, without any evident familial history, showing its diagnosis and surgical management.

  6. Prevalence of impacted and supernumerary teeth in the North Indian population.

    Science.gov (United States)

    Patil, Santosh; Maheshwari, Sneha

    2014-04-01

    Dental impaction is a very frequent problem. Supernumerary teeth, or hyperdontia, are the presence of additional teeth to the normal series in the either of the dentition. The presence of impacted and/or supernumerary teeth can cause various complications. The objective of the present study was to determine the prevalence of impacted and supernumerary teeth in the North Indian population. The panoramic radiographic records of 4750 patients attending the Department of Oral Medicine and Radiology, Jodhpur Dental College General Hospital between September 2008 to December 2012 were examined for this retrospective study. The ages of the patients ranged from 8 to 72 years, with a mean of 34.6 years. A total of 798 (16.8%) patients presented with 1126 impacted teeth. Impacted canines were the most prevalent (9.7%), followed by impacted premolars (4.3%). Supernumerary teeth (1.6%) and impacted molars (1.2%) were less prevalent. Among the 842 impacted teeth, the most frequently affected teeth were the canines (56.7%), followed by premolars (27.8%), and supernumerary teeth (9.3%), while the prevalence of impacted molars was quite lower (6.2%). The most frequently impacted teeth were maxillary canines and the mesiodens were the most common supernumerary tooth. The early diagnosis of supernumerary and impacted teeth is essential to prevent malocclusion and malalignment of permanent teeth demonstrating the importance of panoramic radiographs in their detection. Key words:Impacted, supernumerary, prevalence, canines, mesiodens.

  7. Prevalence of impacted and supernumerary teeth in the North Indian population

    Science.gov (United States)

    Maheshwari, Sneha

    2014-01-01

    Objectives: Dental impaction is a very frequent problem. Supernumerary teeth, or hyperdontia, are the presence of additional teeth to the normal series in the either of the dentition. The presence of impacted and/or supernumerary teeth can cause various complications. The objective of the present study was to determine the prevalence of impacted and supernumerary teeth in the North Indian population. Study Design: The panoramic radiographic records of 4750 patients attending the Department of Oral Medicine and Radiology, Jodhpur Dental College General Hospital between September 2008 to December 2012 were examined for this retrospective study. The ages of the patients ranged from 8 to 72 years, with a mean of 34.6 years. Results: A total of 798 (16.8%) patients presented with 1126 impacted teeth. Impacted canines were the most prevalent (9.7%), followed by impacted premolars (4.3%). Supernumerary teeth (1.6%) and impacted molars (1.2%) were less prevalent. Among the 842 impacted teeth, the most frequently affected teeth were the canines (56.7%), followed by premolars (27.8%), and supernumerary teeth (9.3%), while the prevalence of impacted molars was quite lower (6.2%). Conclusion: The most frequently impacted teeth were maxillary canines and the mesiodens were the most common supernumerary tooth. The early diagnosis of supernumerary and impacted teeth is essential to prevent malocclusion and malalignment of permanent teeth demonstrating the importance of panoramic radiographs in their detection. Key words:Impacted, supernumerary, prevalence, canines, mesiodens. PMID:24790709

  8. [Clinical retrospective study of navigation guided impacted maxillary supernumerary tooth extraction].

    Science.gov (United States)

    Lyu, K; Yang, R T; Zhou, H H; Li, Z; Li, Z B; Yang, X W

    2018-02-09

    Objective: To analyze the efficiency and safety of navigation guided extraction of impacted supernumerary tooth. Methods: Twenty-five cases of navigation guided supernumerary tooth extraction and 25 cases of non-navigation guided supernumerary tooth extraction (control group) were included in the study. Each group had 3 cases with one impacted supernumerary tooth and 22 cases with two impacted teeth. Results: Preoperative navigation system designing time was (45.0±8.0) min in average. Navigation system installation time was (15.0±2.8) min. The average operation time was (0.64±0.08) hour in navigation group and (0.91±0.09) hour in control group. Conclusions: Navigation guided extraction of impacted supernumerary tooth takes less time for operation but more time for the preoperative navigation system design.

  9. Investigation of impacted supernumerary teeth: a cone beam computed tomograph (cbct) study.

    Science.gov (United States)

    Gurler, Gokhan; Delilbasi, Cagri; Delilbasi, Evren

    2017-01-01

    The purpose of this study was to investigate the impacted supernumerary teeth which were initially detected on panoramic radiographs by using cone beam computed tomography (CBCT). In this retrospective study, supernumerary teeth diagnosed on panoramic radiographs taken from patients who had admitted for routine dental treatment were evaluated using CBCT. Patients' age, gender, systemic conditions as well as number of supernumerary teeth, unilateral-bilateral presence, anatomical localization (maxilla, mandible, anterior-premolar-molar, mesiodens-lateral-canine, parapremolar-paramolar-distomolar) shape (rudimentary, supplemental, tuberculate, odontoma), position (palatal-lingual-buccal-labial-central), shortest distance between the tooth and adjacent cortical plate, complications and treatment were assessed. A total of 47 impacted supernumerary teeth in 34 patients were investigated in this study. Of these, 33 (70.2%) were unilateral and 14 (29.8%) were bilateral. Only 1 supernumerary tooth was found in 27 patients (79.4%) whereas 7 patients (20.6%) had 2 or more supernumerary teeth. Most of the teeth located in the anterior region (74.4%) of the jaws and maxilla (74.4%). Twenty teeth (42.5%) were mesiodens, 11 (23.4%) were lateral or canine, 14 (29.7%) were parapremolar and 2(4.4%) were distomolar. Twenty-seven teeth (57.4%) were rudimentary, 15 (31.9%) were supplemental and 5 (10.7%) were odontoma in shape. The shortest distance between the supernumerary tooth and adjacent cortical plate varied between 0 to 2.5 mm with a mean of 0.66 mm. The most common clinical complaint was the non-eruption of permanent teeth (42.5%). All supernumerary teeth were removed under local anesthesia. Orthodontic traction was performed for those impacted permanent teeth if necessary. Impacted supernumerary teeth are usually in close proximity to cortical bone. Although this may facilitate surgical access, there is a risk of damaging surrounding anatomical structures. Therefore, CBCT

  10. [Serous cystadenoma in supernumerary ovary. Case report and literature review].

    Science.gov (United States)

    Fregoso-García, María del Carmen; Campomanes-Azamar, Rubén Darío; Rodríguez-Chávez, José Luis; Madrigal-Rodríguez, Victor Manuel; Bañuelos-Franco, Alberto

    2015-11-01

    The ovaries accessories, ectopic and supernumerary represent a rare gynecological disorder; incidence ranges from 129,000 to 1:700,000 cases. Patient 55 years of age who arrived at by diffuse abdominal pain 2 weeks of evolution, nausea and vomiting, with no history of chronic degenerative diseases or surgical. Palpation abdomen soft depressible globoso palpable mass at the expense of 30x20 cm, painless to superficial and deep pressure. Bimanual: anteversoflexion uterus 9 cm, 20 cm tumor, soft, fixed, mild pain in the cervical mobilization funds free bag. Laboratory tests and tumor markers for ovarian unchanged. The abdominopelvic ultrasound ecomixta reported prodomain cystic mass of 28x13x26 cm, volume 5,470 mL, with papillary projections, septa and caps 6 mm thick. Contrasted abdominal tomography: nodular image of 20 cm, heterogeneous, predominantly cystic, with septa, uptake of contrast medium in the pelvic cavity of probable ovarian origin. laparotomy was performed and found: 8 cm uterus, normal, both atrophic ovaries; 30x20 cm tumor, smooth edges, with neovascularization and areas of calcification with serous content of 5,000 cc, attached to the handles of the jejunum and ileum; transverse colon, back and tail of the pancreas; It was dissected into the retroperitoneum and great vessels, apparent root of the prevertebral fascia. The supernumerary ovary is an extremely rare disorder, but should be considered in patients with abdominal tumors.

  11. Characteristics of 351 supernumerary molar teeth In Turkish population

    Science.gov (United States)

    Kara, Muhammed İ.; Ay, Sinan; Bereket, Cihan; Şener, İsmail; Bülbül, Mehmet; Ezirganlı, Şeref; Polat, Hidayet B.

    2012-01-01

    Objective: The aim of the present study was to evaluate the demographic profile of supernumerary molar (SM) teeth in people in various regions of Turkey. Study Design: A retrospective analysis was carried out on an initial sample of 104,902 subjects drawn from the ortopantographics files from 10 clinics in 7 Turkish cities with documentation of demographic data, the presence of SM teeth, their location, eruption, morphology, and position within the arch. In one region associated patho­logies and treatments were also evaluated. Results: Three hundred fifty-one SMs were detected in 288 patients, constituting 0.33% of the study subjects, with a greater frequency in females (56.4%). SMs were found more frequently in the maxilla (87.7%) than in the mandible, and distomolars (62.9%) were more common than paramolars. The SMs encountered were mostly of conical shape (45.7%), impacted (81.1%), and in a vertical position (52.1). The 33% of SM teeth were related to impacted molar teeth. Conclusion: The most common complication involving these teeth was soft tissue irritation. Demographic data from such specific extensive studies are crucial for improved diagnosis of SM teeth. Early detection allows for measures against complications and more successful therapy. Key words:Supernumerary molars, distomolar, paramolar, prevalence. PMID:22143736

  12. Diagnostic tools used to predict the prevalence of supernumerary teeth: a meta-analysis.

    Science.gov (United States)

    Anthonappa, R P; King, N M; Rabie, A B M

    2012-09-01

    This study sought to (i) determine the variations in prevalence figures based on the diagnostic tools employed, and (ii) provide an insight into the prevalence of supernumerary teeth. A comprehensive literature search of the prevalence reports on supernumerary teeth was conducted using two databases. Two independent observers rated these articles according to exclusion and inclusion criteria. 28 papers were included in the analysis to determine the variations in the prevalence figures in relation to the method of diagnosis, and 14 studies were included to estimate the prevalence figures for supernumerary teeth. Statistical analysis was computed using analysis of variance (ANOVA), Student Neumann-Keuls (SNK) test and multiple regression analysis. Statistically significant differences were evident in the prevalence figures based only on a clinical examination compared with groups that also employed radiographs (p supernumerary teeth ranged from 0% to 3%. The mean prevalence value for the European white population [1.6% (±0.6)] was lower than that of the southern Chinese population [2.7% (±0.14)]. The overall prevalence of supernumerary teeth for males was significantly higher than for females [relative risk = 1.37 (1.13-1.50)]. Clinical examination plus some types of radiograph(s) are essential for determining the prevalence of supernumerary teeth; nevertheless, it is still underestimated. Several disparities in the prevalence reports make the available data on supernumerary teeth questionable.

  13. Prevalence and characteristics of supernumerary teeth: A survey on 7348 people.

    Science.gov (United States)

    Demiriz, Levent; Durmuşlar, Mustafa Cenk; Mısır, Ahmet Ferhat

    2015-05-01

    The aim of the present study was to determine the prevalence of supernumerary teeth with by evaluating a large group of adult patients in Turkey and to investigate the characteristics of supernumerary teeth with their complications and treatment options. This descriptive and retrospective study was carried out in 7348 adult patients aged over 18 years (3212 females and 4136 males). The characteristics of the supernumerary teeth were noted and the diagnosis was made during clinical and radiographic examination with the help of panaromic, periapical, and occlusal radiography. Information on the demographic variables for each patient, including age and gender, were colleceted. All supernumerary teeth were classfied under several titles such as location, position, morphology, eruption, clinical complications, and treatment protocols. The data obtained were subjected to statistical analysis. Chi-squared test was used to determine differences in distribution of supernumerary teeth when stratified by gender. The statistical significance was established by confidence interval of 95% (P ≤ 0.05). 123 (2.14%) affected patients (69 females and 54 males) were observed with a female:male ratio of 1.28:1 (P supernumerary teeth were detected in all affected patients. Supernumerary teeth may be observed in adults patients with a similar frequency (2.14%) as in children and young adolescents, and clinicians should take measures and examine all patients carefully even at older ages.

  14. Piezoelectric ultrasonic bone surgery system in the extraction surgery of supernumerary teeth.

    Science.gov (United States)

    Gao, Yongbo; Lin, Zhenyan; Rodella, Luigi Fabrizio; Buffoli, Barbara; Wu, Xifeng; Zhou, Yanmin

    2014-12-01

    The anterior maxillary region is a common site for supernumerary teeth. The aim of this study was to compare the use of piezoelectric ultrasonic bone surgery for the extraction of supernumerary teeth and the use of traditional method using bone chisels. 60 patients with supernumerary anterior maxillary teeth were considered in this study. They were randomly divided into two groups: 1) the control group, in which the supernumerary teeth were extracted using the traditional bone chisels method; 2) the experimental group, in which the supernumerary teeth were extracted using a piezoelectric ultrasonic bone surgery system. The operative time, amount of bleeding and post-operative pain were quantified and compared; in addition, the post-operative swelling was evaluated. We observed a significant decrease (P supernumerary teeth was longer using the piezoelectric ultrasonic bone surgery system, the amount of bleeding and the post-operative complications were less, so this system could be considered an appropriate surgical method for the extraction of supernumerary teeth. Crown Copyright © 2014. Published by Elsevier Ltd. All rights reserved.

  15. Multiple supernumerary teeth associated with an impacted maxillary central incisor: Surgical and orthodontic management

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    Ramakrishna Yeluri

    2012-01-01

    Full Text Available Various anomalies in the size, shape, number, structure and eruption of the teeth are often observed clinical conditions. Supernumerary teeth can be found in almost any region of the dental arch, and most of the times they are asymptomatic, and are routinely found during radiographic evaluation. The most common cause of impacted maxillary incisors is the presence of the supernumerary teeth. This paper describes a case of multiple supernumerary teeth associated with an impacted permanent maxillary central incisor in an 11-year old child along with its surgical and orthodontic management.

  16. Multiple supernumerary teeth associated with an impacted maxillary central incisor: Surgical and orthodontic management.

    Science.gov (United States)

    Yeluri, Ramakrishna; Hegde, Manjunath; Baliga, Sudhindra; Munshi, Autar Krishen

    2012-04-01

    Various anomalies in the size, shape, number, structure and eruption of the teeth are often observed clinical conditions. Supernumerary teeth can be found in almost any region of the dental arch, and most of the times they are asymptomatic, and are routinely found during radiographic evaluation. The most common cause of impacted maxillary incisors is the presence of the supernumerary teeth. This paper describes a case of multiple supernumerary teeth associated with an impacted permanent maxillary central incisor in an 11-year old child along with its surgical and orthodontic management.

  17. Tuberculate supernumerary teeth: report of a case showing typical and atypical features and the management.

    Science.gov (United States)

    Utomi, I L

    2012-01-01

    Tuberculate supernumerary teeth are found in the maxillary anterior region. They usually result in oral problems such as malocclusion, food impaction, poor aesthetics and cyst formation. There is paucity of literature on this anomaly in our environment. This paper describes a case of tuberculate supernumerary teeth with typical and atypical features of supernumerary teeth in this region. Treatment is carried out with a combination of surgical and orthodontic methods. Early diagnosis and treatment of this anomaly is suggested to avoid more serious consequences and to prevent severe orthodontic complications.

  18. Multiple supernumerary teeth and odontoma in the maxilla: A case report

    Directory of Open Access Journals (Sweden)

    P B Sood

    2010-01-01

    Full Text Available Most supernumerary impacted teeth are located in the anterior maxillary region. They are classified according to their form and location. Their presence may give rise to a variety of clinical problems. The detection of supernumerary teeth is best achieved by thorough clinical and radiographic examination. Their management should form part of a comprehensive treatment plan. This article presents an overview of the diagnostic problems associated with multiple supernumerary impacted teeth and includes a discussion of the classification, diagnosis, and management of this difficult clinical entity.

  19. Severe psychomotor delay in a severe presentation of cat-eye syndrome.

    Science.gov (United States)

    Jedraszak, Guillaume; Receveur, Aline; Andrieux, Joris; Mathieu-Dramard, Michèle; Copin, Henri; Morin, Gilles

    2015-01-01

    Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.

  20. Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

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    Guillaume Jedraszak

    2015-01-01

    Full Text Available Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.

  1. Reliability of horizontal and vertical tube shift techniques in the localisation of supernumerary teeth.

    Science.gov (United States)

    Mallineni, S K; Anthonappa, R P; King, N M

    2016-12-01

    To assess the reliability of the vertical tube shift technique (VTST) and horizontal tube shift technique (HTST) for the localisation of unerupted supernumerary teeth (ST) in the anterior region of the maxilla. A convenience sample of 83 patients who attended a major teaching hospital because of unerupted ST was selected. Only non-syndromic patients with ST and who had complete clinical and radiographic and surgical records were included in the study. Ten examiners independently rated the paired set of radiographs for each technique. Chi-square test, paired t test and kappa statistics were employed to assess the intra- and inter-examiner reliability. Paired sets of 1660 radiographs (830 pairs for each technique) were available for the analysis. The overall sensitivity for VTST and HTST was 80.6 and 72.1% respectively, with slight inter-examiner and good intra-examiner reliability. Statistically significant differences were evident between the two localisation techniques (p < 0.05). Localisation of unerupted ST using VTST was more successful than HTST in the anterior region of the maxilla.

  2. Presence of harmless small supernumerary marker chromosomes hampers molecular genetic diagnosis: a case report.

    Science.gov (United States)

    Nelle, Heike; Schreyer, Isolde; Ewers, Elisabeth; Mrasek, Kristin; Kosyakova, Nadezda; Merkas, Martina; Hamid, Ahmed Basheer; Fahsold, Raimund; Ujfalusi, Anikó; Anderson, Jasen; Rubtsov, Nikolai; Küchler, Alma; von Eggeling, Ferdinand; Hentschel, Julia; Weise, Anja; Liehr, Thomas

    2010-01-01

    Mental retardation is correlated in approximately 0.4% of cases with the presence of a small supernumerary marker chromosome (sSMC). However, here we report a case of a carrier of a heterochromatic harmless sSMC with fragile X syndrome (Fra X). In approximately 2% of sSMC cases, similar heterochromatic sSMC were observed in a clinically abnormal carriers. In a subset of such cases, uniparental disomy (UPD) of the corresponding sister chromosomes was shown to be the cause of mental retardation. For the remainder of the cases, including the present one, the sSMC was just a random finding not related to the clinical phenotype. Thus, it is proposed to test patients with heterochromatic sSMC and mental retardation of unclear cause as follows: i) exclude UPD, ii) test for Fra X as it is a major cause of inherited mental retardation, and iii) perform chip-based assays or tests for special genetic diseases according to the phenotype. In any case, the diagnosis of a cytogenetic aberration such as an sSMC should not automatically be considered the resolution of a clinical case.

  3. Morphologic characteristics, location, and associated complications of maxillary and mandibular supernumerary teeth as evaluated using cone beam computed tomography.

    Science.gov (United States)

    Mossaz, Jessica; Kloukos, Dimitrios; Pandis, Nikolaos; Suter, Valerie G A; Katsaros, Christos; Bornstein, Michael M

    2014-12-01

    To evaluate the location and morphologic characteristics of supernumerary teeth and to assess the frequency and extent of root resorption of adjacent teeth using cone beam computed tomography (CBCT). CBCT scans of 82 patients with supernumerary teeth in the maxilla and mandible were evaluated by two orthodontists independently. Data regarding the type, shape, and three-dimensional (3D) location of the supernumeraries including the frequency and extent of root resorption of adjacent teeth were recorded and evaluated for possible associations. The study comprised a total of 101 supernumerary teeth. Most of the patients (80.5 per cent) exhibited one single supernumerary tooth, while 15.8 per cent had two and 3.7 per cent had three supernumeraries. Males were affected more than females with a ratio of 1.65:1. Mesiodentes were the most frequently diagnosed type of supernumerary teeth (48.52 per cent), followed by supernumerary premolars (23.76 per cent) and lateral incisors (18.81 per cent). Supernumeraries were most commonly conical in shape (42.6 per cent) with a normal or inclined vertical position (61.4 per cent). Root resorption of adjacent teeth was detected for 22.8 per cent of the supernumerary teeth, most frequently for supernumerary premolars. There was a significant association between root resorption of adjacent teeth and type and shape of tooth. Interrater agreement for the measurements performed showed kappa values ranging from 0.55 to 1 with a kappa value of 1 for type and shape of the supernumerary teeth. CBCT provides 3D information about location and shape of supernumerary teeth as well as prevalence and degree of root resorption of neighbouring teeth with moderate to high interrater correlation. © The Author 2014. Published by Oxford University Press on behalf of the European Orthodontic Society. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  4. Diagnosis and management of supernumerary (mesiodens): a review of the literature.

    Science.gov (United States)

    Meighani, G; Pakdaman, A

    2010-01-01

    Supernumerary tooth is one of the developmental problems in children. Mesiodens is a supernumerary tooth present in the midline between the two central incisors. It usually results in oral problems such as malocclusion, food impaction, poor aesthetics, and cyst formation. The prevalence of mesiodens varies between 0.09% and 2.05% in different studies. This paper reviews current literature on etiology, prevalence, diagnosis, and management of this problem. Accordingly, early diagnosis and treatment is suggested to prevent orthodontic and pathologic complications.

  5. An unusual presentation of generalized aggressive periodontitis with multiple impacted supernumerary teeth

    OpenAIRE

    Salman, Arif; Meethil, Archana

    2012-01-01

    Aggressive periodontitis is a rare condition that progresses rapidly but affects only a small percentage of population. Most of the cases are familial. The presence of supernumerary teeth is also rather rare and often familial. Therefore, a concomitant presentation of aggressive periodontitis and supernumerary teeth in an individual has generated a great interest among clinicians. Here, we report a rare nonsyndromic case of generalized aggressive periodontitis with multiple impacted supernume...

  6. Agenesis of premolar associated with submerged primary molar and a supernumerary premolar: An unusual case report

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    S. V. S. G. Nirmala

    2012-01-01

    Full Text Available The combination of submerged primary molar, agenesis of permanent successor with a supernumerary in the same place is very rare. The purpose of this article is to report a case of submerged mandibular left second primary molar with supernumerary tooth in the same region along with agenesis of second premolar in an 11-year-old girl, its possible etiological factors, and a brief discussion on treatment options.

  7. Gardner′s Syndrome

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    Sapna Panjwani

    2011-01-01

    Full Text Available Gardner′s syndrome is an autosomal dominant disease and is a subtype of familial adenomatous polyposis. It is characterized by adenomatous intestinal polyps, multiple osteomas in the skull, maxillae, mandible, and multiple cutaneous and subcutaneous masses (epidermoids and desmoid. Intestinal polyps, if not treated, have 100% chance of becoming malignant. We report a case of a 25-year-old female patient with Gardner′s syndrome, with clinical manifestations including impacted supernumerary teeth, odontomes, sebaceous cyst on the scalp, and osteomas. It is important for the general dental practitioners to be aware of the clinical and radiological characteristics of Gardner′s syndrome.

  8. Management and outcome following extraction of 303 supernumerary teeth in pediatric patients.

    Science.gov (United States)

    Mínguez-Martinez, Ignacio; Ata-Ali, Javier; Bonet-Coloma, Cristina; Peñarrocha-Oltra, David; Peñarrocha-Diago, Maria A; Minguez-Sanz, Juan M

    2012-01-01

    The purpose of this study was to describe the treatment of permanent teeth impacted by supernumerary teeth and their outcome following extraction. The study population comprised 200 2- to 14-year-olds. A total of 303 supernumerary teeth were removed from the 200 patients. Surgery was performed on: 129 teeth (~43%) from the vestibular and palatine/lingual (mixed) side; 110 teeth (~36%) from the palatine/lingual side; and 64 teeth (~21%) from the vestibular side. Regarding the shape of the supernumerary teeth, the distribution was: 118 conoid teeth; 92 supplementary teeth; 66 tuberculate teeth; and 27 teeth of varied shapes. In approximately 61% of the permanent teeth (159 teeth), the supernumerary teeth caused impaction of the former, while no case of impaction was recorded in the case of the primary dentition. The impacted permanent teeth evolved favorably in 100% of the orthodontic tractions, in 80% of the relocations, and in approximately 65% of the conductive alveolectomies. The highest percentage success rate in treating permanent teeth impacted by supernumerary teeth corresponded to those cases in which surgery could be combined with orthodontic treatment. There were no displacements of neighboring buds during removal of the supernumerary teeth in the primary dentition.

  9. Lateral incisor agenesis, canine impaction and characteristics of supernumerary teeth in a South European male population.

    Science.gov (United States)

    Delli, Konstantina; Livas, Christos; Bornstein, Michael M

    2013-07-01

    To assess the prevalence of lateral incisor agenesis impacted canines and supernumerary teeth in a young adult male population. The panoramic radiographs of 1745 military students (mean age: 18.6 ± 0.52 years) who attended the Center of Aviation Medicine of the Armed Forces of Greece during the period 1997-2011 were initially analyzed for lateral incisor agenesis by two observers. After exclusion of the known orthodontic cases, a subgroup of 1636 examinees (mean age: 18.6 ± 0.44 years) was evaluated for canine impaction and supernumerary teeth. Twenty-eight missing lateral incisors were observed in 22 military students, indicating an incidence of 1.3% in the investigated population. No lateral incisor agenesis was detected in the mandibular arch. A prevalence rate of 0.8% was determined for canine impaction in the sample of young adults. The majority of impacted teeth (86.7%) were diagnosed in the maxillary arch. Thirty-five supernumerary teeth were observed in 24 examinees (prevalence rate: 1.5%). The ratio of supernumerary teeth located in the maxilla versus the mandible was 2.2:1. The most common type of supernumerary tooth was the upper distomolar. The prevalence of lateral incisor agenesis, canine impaction, and supernumerary teeth ranged from 0.8 to 1.5% in the sample of male Greek military students.

  10. Screening, isolation and optimization of anti–white spot syndrome virus drug derived from marine plants

    Science.gov (United States)

    Chakraborty, Somnath; Ghosh, Upasana; Balasubramanian, Thangavel; Das, Punyabrata

    2014-01-01

    Objective To screen, isolate and optimize anti-white spot syndrome virus (WSSV) drug derived from various marine floral ecosystems and to evaluate the efficacy of the same in host–pathogen interaction model. Methods Thirty species of marine plants were subjected to Soxhlet extraction using water, ethanol, methanol and hexane as solvents. The 120 plant isolates thus obtained were screened for their in vivo anti-WSSV property in Litopenaeus vannamei. By means of chemical processes, the purified anti-WSSV plant isolate, MP07X was derived. The drug was optimized at various concentrations. Viral and immune genes were analysed using reverse transcriptase PCR to confirm the potency of the drug. Results Nine plant isolates exhibited significant survivability in host. The drug MP07X thus formulated showing 85% survivability in host. The surviving shrimps were nested PCR negative at the end of the 15 d experimentation. The lowest concentration of MP07X required intramuscularly for virucidal property was 10 mg/mL. The oral dosage of 1 000 mg/kg body weight/day survived at the rate of 85%. Neither VP28 nor ie 1 was expressed in the test samples at 42nd hour and 84th hour post viral infection. Conclusions The drug MP07X derived from Rhizophora mucronata is a potent anti-WSSV drug. PMID:25183065

  11. Screening, isolation and optimization of anti-white spot syndrome virus drug derived from marine plants.

    Science.gov (United States)

    Chakraborty, Somnath; Ghosh, Upasana; Balasubramanian, Thangavel; Das, Punyabrata

    2014-05-01

    To screen, isolate and optimize anti-white spot syndrome virus (WSSV) drug derived from various marine floral ecosystems and to evaluate the efficacy of the same in host-pathogen interaction model. Thirty species of marine plants were subjected to Soxhlet extraction using water, ethanol, methanol and hexane as solvents. The 120 plant isolates thus obtained were screened for their in vivo anti-WSSV property in Litopenaeus vannamei. By means of chemical processes, the purified anti-WSSV plant isolate, MP07X was derived. The drug was optimized at various concentrations. Viral and immune genes were analysed using reverse transcriptase PCR to confirm the potency of the drug. Nine plant isolates exhibited significant survivability in host. The drug MP07X thus formulated showing 85% survivability in host. The surviving shrimps were nested PCR negative at the end of the 15 d experimentation. The lowest concentration of MP07X required intramuscularly for virucidal property was 10 mg/mL. The oral dosage of 1 000 mg/kg body weight/day survived at the rate of 85%. Neither VP28 nor ie 1 was expressed in the test samples at 42nd hour and 84th hour post viral infection. The drug MP07X derived from Rhizophora mucronata is a potent anti-WSSV drug.

  12. Empirically derived dimensional syndromes of self-reported psychopathology: Cross-cultural comparisons of Portuguese and US elders.

    Science.gov (United States)

    Ivanova, Masha Y; Achenbach, Thomas; Leite, Manuela; Almeida, Vera; Caldas, Carlos; Turner, Lori; Dumas, Julie A

    2018-05-01

    As the world population ages, mental health professionals increasingly need empirically supported assessment instruments for older adult psychopathology. This study tested the degree to which syndromes derived from self-ratings of psychopathology by elders in the US would fit self-ratings by elders in Portugal. The Older Adult Self-Report (OASR) was completed by 352 60- to 102-year-olds in Portuguese community and residential settings. Confirmatory factor analyses tested the fit of the 7-syndrome OASR model to self-ratings by Portuguese elders. The primary fit index (Root Mean Square Error of Approximation) showed good fit, while secondary fit indices (the Comparative Fit Index and the Tucker-Lewis Index) showed acceptable fit. Loadings of 95 of the 97 items on their expected syndromes were statistically significant (mean = .63), indicating that the items measured the syndromes well. Correlations between latent factors, ie, between the hypothesized syndrome constructs measured by the items, averaged .66. The correlations between syndromes reflect varying degrees of comorbidity between problems comprising particular pairs of syndromes. The results support the syndrome structure of the OASR for Portuguese elders, offering Portuguese clinicians and researchers a useful instrument for assessing a broad spectrum of psychopathology. The results also offer a core of empirically supported taxonomic constructs of later life psychopathology as a basis for advancing clinical practice, training, and cross-cultural research. Copyright © 2017 John Wiley & Sons, Ltd.

  13. Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

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    Akarsu Nurten

    2010-05-01

    Full Text Available Abstract Background Genomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (1p34.2 and patients with this syndrome have been diagnosed with hypoglycorrhachia, mental and developmental delay, microcephaly and seizures. Furthermore, 1q terminal deletions have been submitted in the recent reports and the absence of corpus callosum has been related to the deletion between C1orf100 and C1orf121 in 1q44. Results This study reports on a sibling pair with developmental delay, mental retardation, microcephaly, hypotonia, epilepsy, facial dysmorphism, ataxia and impaired speech. Chromosome analysis revealed a derivative chromosome 1 in both patients. FISH and MCB analysis showed two interstitial deletions at 1p34.2 and 1q44. SNP array and array-CGH analysis also determined the sizes of deletions detailed. The deleted region on 1p34.2 encompasses 33 genes, among which is GLUT1 gene (SLC2A1. However, the deleted region on 1q44 includes 59 genes and distal-proximal breakpoints were located in the ZNF672 gene and SMYD3 gene, respectively. Conclusion Haploinsufficiency of GLUT1 leads to GLUT1 deficiency syndrome, consistent with the phenotype in patients of this study. Conversely, in the deleted region on 1q44, none of the genes are related to findings in these patients. Additionally, the results confirm previous reports on that corpus callosal development may depend on the critical gene(s lying in 1q44 proximal to the SMYD3 gene.

  14. Autologous Bone Marrow-Derived Stem Cells for Treating Diabetic Neuropathy in Metabolic Syndrome

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    Wei Liu

    2017-01-01

    Full Text Available Diabetic neuropathy is one of the most common and serious complications of diabetes mellitus and metabolic syndrome. The current therapy strategies, including glucose control and pain management, are not effective for most patients. Growing evidence suggests that infiltration of inflammation factors and deficiency of local neurotrophic and angiogenic factors contribute significantly to the pathologies of diabetic neuropathy. Experimental and clinical studies have shown that bone marrow-derived stem cells (BMCs therapy represents a novel and promising strategy for tissue repair through paracrine secretion of multiple cytokines, which has a potential to inhibit inflammation and promote angiogenesis and neurotrophy in diabetic neuropathy. In this review, we discuss the clinical practice in diabetic neuropathy and the therapeutic effect of BMC. We subsequently illustrate the functional impairment of autologous BMCs due to the interrupted bone marrow niche in diabetic neuropathy. We anticipate that the functional restoration of BMCs could improve their therapeutic effect and enable their wide applications in diabetic neuropathy.

  15. [Supernumerary teeth in the maxilla and mandible-an interdisciplinary challenge. Part 1: epidemiology, etiology, classification and associated complications].

    Science.gov (United States)

    Mossaz, Jessica; Suter, Valerie G A; Katsaros, Christos; Bornstein, Michael M

    2016-01-01

    Supernumerary teeth develop in addition to the normal dentition and are a therapeutic challenge for pedodontists, orthodontists and oral surgeons alike. Therefore, interdisciplinary treatment concepts are needed for the benefit of the patient. In the present, two-parted literature review on supernumerary teeth, current classification, associated complications, diagnostic steps and different therapeutic approches are presented and discussed. Supernumerary teeth are diagnosed in the primary and permanent dentition. Supernumerary incisors, canines, premolars, and molars, as well as distomolars and mesiodentes can be seen according to the location of the supernumerary teeth. Furthermore, based on the morphology of the supernumeraries four different types can be differentiated: conical, tuberculate, supplemental, and odontoma. Supernumerary teeth often remain asymptomatic, and are only diagnosed incidentally during a routine dental visit on radiographs (often intraoral). Nevertheless, various complications have been reported in the literature for supernumerary teeth such as disturbed eruption, malpositioning/rotation, root resorption of neighbouring teeth, and development of dentigerous cysts in impacted supernumeraries. Root resorption of neighbouring teeth can be radiographically diagnosed in up to 22.8% of the cases.

  16. INVESTIGATION OF IMPACTED SUPERNUMERARY TEETH: A CONE BEAM COMPUTED TOMOGRAPH (CBCT STUDY

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    Gökhan GÜRLER

    2017-10-01

    Full Text Available Purpose: The purpose of this study was to investigate the impacted supernumerary teeth which were initially detected on panoramic radiographs by using cone beam computed tomography (CBCT. Materials and Methods: In this retrospective study, supernumerary teeth diagnosed on panoramic radiographs taken from patients who had admitted for routine dental treatment were evaluated using CBCT. Patients’ age, gender, systemic conditions as well as number of supernumerary teeth, unilateral-bilateral presence, anatomical localization (maxilla, mandible, anterior-premolar-molar, mesiodens-lateral-canine, parapremolar-paramolar-distomolar shape (rudimentary, supplemental, tuberculate, odontoma, position (palatal-lingual-buccal-labial-central, shortest distance between the tooth and adjacent cortical plate, complications and treatment were assessed. Results: A total of 47 impacted supernumerary teeth in 34 patients were investigated in this study. Of these, 33 (70.2% were unilateral and 14 (29.8% were bilateral. Only 1 supernumerary tooth was found in 27 patients (79.4% whereas 7 patients (20.6% had 2 or more supernumerary teeth. Most of the teeth located in the anterior region (74.4% of the jaws and maxilla (74.4%. Twenty teeth (42.5% were mesiodens, 11 (23.4% were lateral or canine, 14 (29.7% were parapremolar and 2(4.4% were distomolar. Twenty-seven teeth (57.4% were rudimentary, 15 (31.9% were supplemental and 5 (10.7% were odontoma in shape. The shortest distance between the supernumerary tooth and adjacent cortical plate varied between 0 to 2.5 mm with a mean of 0.66 mm. The most common clinical complaint was the non-eruption of permanent teeth (42.5%. All supernumerary teeth were removed under local anesthesia. Orthodontic traction was performed for those impacted permanent teeth if necessary. Conclusion: Impacted supernumerary teeth are usually in close proximity to cortical bone. Although this may facilitate surgical access, there is a risk of

  17. A clinical, cytogenetic, FISH and molecular study of supernumerary marker 15 chromosomes

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    Dennis, N.R. [Princess Anne Hospital, Southampton (United Kingdom); Crolla, J.A.; Harvey, J.F. [Salisbury District Hospital (United Kingdom)

    1994-09-01

    We studied 17 patients with supernumerary marker chromosomes shown by fluorescent in situ hybridization (FISH) with the 15-centromere specific probe pTRA-25 to be 15-derived. Genetic constitution of the marker chromosomes was investigated using FISH, Southern blot analysis and PCR for proximal and distal loci on 15q as well as conventional cytogenetics. Eight of the 17 patients were mentally retarded. Six of the eight carried a de novo marker 15 containing one or two doses of loci known to be in or near the Prader-Willi/Angelman (PWS/AS) region, whereas none of the nine non-retarded patients had duplications of this region, and only two of the eight whose parents were available had a de novo marker. None of the mentally retarded patients had PWS or AS. In two retarded patients (one de novo, one familial) there was no duplication of the PWS/AS region. Uniparental disomy affecting the normal 15 homologs was excluded in 10 of the patients, including all eight with mental retardation.

  18. Plant-derived chimeric virus particles for the diagnosis of primary Sjögren syndrome

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    Elisa eTinazzi

    2015-12-01

    Full Text Available Plants are ideal for the production of protein-based nanomaterials because they synthesize and assemble complex multimeric proteins that cannot be expressed efficiently using other platforms. Plant viruses can be thought of as self-replicating proteinaceous nanomaterials generally stable and easily produced in high titers. We used Potato virus X (PVX chimeric virus particles (CVPs and Cowpea mosaic virus (CPMV empty virus-like particles (eVLPs to display a linear peptide (lipo derived from human lipocalin , which is immunodominant in Sjögren’s syndrome (SjS and is thus recognized by autoantibodies in SjS patient serum. These virus-derived nanoparticles (VNPs were thus used to develop a diagnostic assay for SjS based on a direct enzyme linked immunosorbent assay (ELISA format. We found that PVX-lipo formulations were more sensitive than the chemically synthesized immunodominant peptide and equally specific when used to distinguish between healthy individuals and SjS patients. Our novel assay therefore allows the diagnosis of SjS using a simple, low-invasive serum test, contrasting with the invasive labial biopsy required for current tests. Our results demonstrate that nanomaterials based on plant viruses can be used as diagnostic reagents for SjS, and could also be developed for the diagnosis of other diseases.

  19. Plant-Derived Chimeric Virus Particles for the Diagnosis of Primary Sjögren Syndrome.

    Science.gov (United States)

    Tinazzi, Elisa; Merlin, Matilde; Bason, Caterina; Beri, Ruggero; Zampieri, Roberta; Lico, Chiara; Bartoloni, Elena; Puccetti, Antonio; Lunardi, Claudio; Pezzotti, Mario; Avesani, Linda

    2015-01-01

    Plants are ideal for the production of protein-based nanomaterials because they synthesize and assemble complex multimeric proteins that cannot be expressed efficiently using other platforms. Plant viruses can be thought of as self-replicating proteinaceous nanomaterials generally stable and easily produced in high titers. We used Potato virus X (PVX), chimeric virus particles, and Cowpea mosaic virus, empty virus-like particles to display a linear peptide (lipo) derived from human lipocalin, which is immunodominant in Sjögren's syndrome (SjS) and is thus recognized by autoantibodies in SjS patient serum. These virus-derived nanoparticles were thus used to develop a diagnostic assay for SjS based on a direct enzyme linked immunosorbent assay format. We found that PVX-lipo formulations were more sensitive than the chemically synthesized immunodominant peptide and equally specific when used to distinguish between healthy individuals and SjS patients. Our novel assay therefore allows the diagnosis of SjS using a simple, low-invasive serum test, contrasting with the invasive labial biopsy required for current tests. Our results demonstrate that nanomaterials based on plant viruses can be used as diagnostic reagents for SjS, and could also be developed for the diagnosis of other diseases.

  20. Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells

    Science.gov (United States)

    Fink, James J.; Robinson, Tiwanna M.; Germain, Noelle D.; Sirois, Carissa L.; Bolduc, Kaitlyn A.; Ward, Amanda J.; Rigo, Frank; Chamberlain, Stormy J.; Levine, Eric S.

    2017-01-01

    Angelman syndrome (AS) is a neurogenetic disorder caused by deletion of the maternally inherited UBE3A allele and is characterized by developmental delay, intellectual disability, ataxia, seizures and a happy affect. Here, we explored the underlying pathophysiology using induced pluripotent stem cell-derived neurons from AS patients and unaffected controls. AS-derived neurons showed impaired maturation of resting membrane potential and action potential firing, decreased synaptic activity and reduced synaptic plasticity. These patient-specific differences were mimicked by knocking out UBE3A using CRISPR/Cas9 or by knocking down UBE3A using antisense oligonucleotides. Importantly, these phenotypes could be rescued by pharmacologically unsilencing paternal UBE3A expression. Moreover, selective effects of UBE3A disruption at late stages of in vitro development suggest that changes in action potential firing and synaptic activity may be secondary to altered resting membrane potential. Our findings provide a cellular phenotype for investigating pathogenic mechanisms underlying AS and identifying novel therapeutic strategies. PMID:28436452

  1. Severe acute respiratory syndrome coronavirus (SARS-CoV) infection inhibition using spike protein heptad repeat-derived peptides.

    NARCIS (Netherlands)

    B.J. Bosch (Berend Jan); B.E.E. Martina (Byron); R. van der Zee (Ruurd); J. Lepault (Jean); B.J. Haijema; C. Versluis (Cees); A.J.R. Heck (Albert); R. de Groot (Ronald); A.D.M.E. Osterhaus (Albert); P.J.M. Rottier (Peter)

    2004-01-01

    textabstractThe coronavirus SARS-CoV is the primary cause of the life-threatening severe acute respiratory syndrome (SARS). With the aim of developing therapeutic agents, we have tested peptides derived from the membrane-proximal (HR2) and membrane-distal (HR1) heptad repeat region of the spike

  2. Impact Of Mutation-derived Antigens In Immune Recognition Of Hematological Malignancies, Specifically Myeloid Dysplastic Syndromes (MDS)

    DEFF Research Database (Denmark)

    Saini, Sunil Kumar; Dorfmüller, S.; Bjerregaard, Anne-Mette

    2016-01-01

    Mutation-derived neoepitopes have been suggested as a major component for immune recognition of solid tumors with a high mutational load, e.g. Melanoma and Non-Small-Cell Lung Cancer (NSCLC). Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid neoplasms characterized by increasing...

  3. Impact Of Mutation-derived Antigens In Immune Recognition Of Hematological Malignancies, Specifically Myeloid Dysplastic Syndromes (MDS)

    DEFF Research Database (Denmark)

    Saini, Sunil Kumar; Dorfmüller, S.; Bjerregaard, Anne-Mette

    2016-01-01

    Mutation-derived neoepitopes have been suggested as a major component for immune recognition of solid tumors with a high mutational load, e.g. Melanoma and Non-Small-Cell Lung Cancer (NSCLC). Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid neoplasms characterized by increasing...... to the generation of tumor-specific neoepitopes....

  4. Association of mast cell-derived VEGF and proteases in Dengue shock syndrome.

    Directory of Open Access Journals (Sweden)

    Takahisa Furuta

    Full Text Available BACKGROUND: Recent in-vitro studies have suggested that mast cells are involved in Dengue virus infection. To clarify the role of mast cells in the development of clinical Dengue fever, we compared the plasma levels of several mast cell-derived mediators (vascular endothelial cell growth factor [VEGF], soluble VEGF receptors [sVEGFRs], tryptase, and chymase and -related cytokines (IL-4, -9, and -17 between patients with differing severity of Dengue fever and healthy controls. METHODOLOGY/PRINCIPAL FINDINGS: The study was performed at Children's Hospital No. 2, Ho Chi Minh City, and Vinh Long Province Hospital, Vietnam from 2002 to 2005. Study patients included 103 with Dengue fever (DF, Dengue hemorrhagic fever (DHF, and Dengue shock syndrome (DSS, as diagnosed by the World Health Organization criteria. There were 189 healthy subjects, and 19 febrile illness patients of the same Kinh ethnicity. The levels of mast cell-derived mediators and -related cytokines in plasma were measured by ELISA. VEGF and sVEGFR-1 levels were significantly increased in DHF and DSS compared with those of DF and controls, whereas sVEGFR-2 levels were significantly decreased in DHF and DSS. Significant increases in tryptase and chymase levels, which were accompanied by high IL-9 and -17 concentrations, were detected in DHF and DSS patients. By day 4 of admission, VEGF, sVEGFRs, and proteases levels had returned to similar levels as DF and controls. In-vitro VEGF production by mast cells was examined in KU812 and HMC-1 cells, and was found to be highest when the cells were inoculated with Dengue virus and human Dengue virus-immune serum in the presence of IL-9. CONCLUSIONS: As mast cells are an important source of VEGF, tryptase, and chymase, our findings suggest that mast cell activation and mast cell-derived mediators participate in the development of DHF. The two proteases, particularly chymase, might serve as good predictive markers of Dengue disease severity.

  5. Association of Mast Cell-Derived VEGF and Proteases in Dengue Shock Syndrome

    Science.gov (United States)

    Furuta, Takahisa; Murao, Lyre Anni; Lan, Nguyen Thi Phuong; Huy, Nguyen Tien; Huong, Vu Thi Que; Thuy, Tran Thi; Tham, Vo Dinh; Nga, Cao Thi Phi; Ha, Tran Thi Ngoc; Ohmoto, Yasukazu; Kikuchi, Mihoko; Morita, Kouichi; Yasunami, Michio; Hirayama, Kenji; Watanabe, Naohiro

    2012-01-01

    Background Recent in-vitro studies have suggested that mast cells are involved in Dengue virus infection. To clarify the role of mast cells in the development of clinical Dengue fever, we compared the plasma levels of several mast cell-derived mediators (vascular endothelial cell growth factor [VEGF], soluble VEGF receptors [sVEGFRs], tryptase, and chymase) and -related cytokines (IL-4, -9, and -17) between patients with differing severity of Dengue fever and healthy controls. Methodology/Principal Findings The study was performed at Children's Hospital No. 2, Ho Chi Minh City, and Vinh Long Province Hospital, Vietnam from 2002 to 2005. Study patients included 103 with Dengue fever (DF), Dengue hemorrhagic fever (DHF), and Dengue shock syndrome (DSS), as diagnosed by the World Health Organization criteria. There were 189 healthy subjects, and 19 febrile illness patients of the same Kinh ethnicity. The levels of mast cell-derived mediators and -related cytokines in plasma were measured by ELISA. VEGF and sVEGFR-1 levels were significantly increased in DHF and DSS compared with those of DF and controls, whereas sVEGFR-2 levels were significantly decreased in DHF and DSS. Significant increases in tryptase and chymase levels, which were accompanied by high IL-9 and -17 concentrations, were detected in DHF and DSS patients. By day 4 of admission, VEGF, sVEGFRs, and proteases levels had returned to similar levels as DF and controls. In-vitro VEGF production by mast cells was examined in KU812 and HMC-1 cells, and was found to be highest when the cells were inoculated with Dengue virus and human Dengue virus-immune serum in the presence of IL-9. Conclusions As mast cells are an important source of VEGF, tryptase, and chymase, our findings suggest that mast cell activation and mast cell-derived mediators participate in the development of DHF. The two proteases, particularly chymase, might serve as good predictive markers of Dengue disease severity. PMID:22363824

  6. Effect of brain-derived neurotrophic factor on the formation of psycho-vegetative syndrome with brain injury

    Directory of Open Access Journals (Sweden)

    Selyanina N.V.

    2016-09-01

    Full Text Available Aim: to determine the role of brain-derived neurotrophic factor in the formation and forecasting of psycho-vegetative syndrome in patients with cerebral mild to moderate injury. Material and Methods. There have been 150 patients with contusion of the brain, examined. Indicators of neurological, psycho-vegetative status, quantitative content of brain-derived neurotrophic factor (BDNF and nerve growth factor (NGF in the serum were studied. Results. At patients with brain contusion neurological, psycho-vegetative disturbances and decrease neurotrophic factors are determined. It was found to depend of the content of BDNF and psycho-vegetative indicators. Conclusion. The level of brain-derived neurotrophic factor serum (less than 300 pg/ml is a predictor of psycho-vegetative syndrome in the long term of the brain injury.

  7. Mesiodens--diagnosis and management of a common supernumerary tooth.

    Science.gov (United States)

    Russell, Kathleen A; Folwarczna, Magdalena A

    2003-06-01

    Mesiodentes are the most common supernumerary teeth, occurring in 0.15% to 1.9% of the population. Given this high frequency, the general dentist should be knowledgeable about the signs and symptoms of mesiodentes and appropriate treatment. The cause of mesiodentes is not fully understood, although proliferation of the dental lamina and genetic factors have been implicated. Mesiodentes can cause delayed or ectopic eruption of the permanent incisors, which can further alter occlusion and appearance. It is therefore important for the clinician to diagnose a mesiodens early in development to allow for optimal yet minimal treatment. Treatment options may include surgical extraction of the mesiodens. If the permanent teeth do not erupt in a reasonable period after the extraction, surgical exposure and orthodontic treatment may be required to ensure eruption and proper alignment of the teeth. In some instances, fixed orthodontic therapy is also required to create sufficient arch space before eruption and alignment of the incisor(s). Early diagnosis allows the most appropriate treatment, often reducing the extent of surgery, orthodontic treatment and possible complications. This paper outlines the causes and modes of presentation of mesiodentes, and presents guidelines for diagnosis and management of nonsyndromic mesiodentes.

  8. Mirror imaging of impacted and supernumerary teeth in dizygotic twins: A case report.

    Science.gov (United States)

    Cassetta, Michele; Altieri, Federica; Giordano, Alessandra

    2015-02-01

    Mesiodens is the most common type of supernumerary tooth found in the premaxilla. It might be discovered by the clinical examination by chance on a radiograph or as the cause of an unerupted maxillary central incisor. The genetic transmission of supernumerary and impacted teeth is poorly understood. Mirror imaging in twins has been reported frequently in relation to several unilateral dental anomalies including mesiodens. This phenomenon is the appearance of an asymmetrical feature or anomaly occurring on the right side of one twin but on the left side of the other twin. The event of mesiodens mirror imaging in monozygotic twins has been described in literature. This is the first reported case of mesiodens mirror images in dizygotic twins. The de-scribed mesiodens caused the eruption failure of maxillary permanent incisors. The super-numerary teeth were removed to facilitate the spontaneous eruption of the impacted perma-nent maxillary incisors. Studies related to supernumerary teeth can be useful to clinicians in the early diagnosis of this anomaly. Clinical and radiographic examinations provide a correct therapeutic approach. Key words:Supernumerary teeth, twins, dental development.

  9. Gene expression profiling in a mouse model identifies fetal liver- and placenta-derived potential biomarkers for Down Syndrome screening.

    Directory of Open Access Journals (Sweden)

    Jeroen L A Pennings

    Full Text Available BACKGROUND: As a first step to identify novel potential biomarkers for prenatal Down Syndrome screening, we analyzed gene expression in embryos of wild type mice and the Down Syndrome model Ts1Cje. Since current Down Syndrome screening markers are derived from placenta and fetal liver, these tissues were chosen as target. METHODOLOGY/PRINCIPAL FINDINGS: Placenta and fetal liver at 15.5 days gestation were analyzed by microarray profiling. We confirmed increased expression of genes located at the trisomic chromosomal region. Overall, between the two genotypes more differentially expressed genes were found in fetal liver than in placenta. Furthermore, the fetal liver data are in line with the hematological aberrations found in humans with Down Syndrome as well as Ts1Cje mice. Together, we found 25 targets that are predicted (by Gene Ontology, UniProt, or the Human Plasma Proteome project to be detectable in human serum. CONCLUSIONS/SIGNIFICANCE: Fetal liver might harbor more promising targets for Down Syndrome screening studies. We expect these new targets will help focus further experimental studies on identifying and validating human maternal serum biomarkers for Down Syndrome screening.

  10. [Supernumerary teeth in the maxilla and mandible-an interdisciplinary challenge. Part 2: diagnostic pathways and current therapeutic concepts].

    Science.gov (United States)

    Mossaz, Jessica; Suter, Valerie G A; Katsaros, Christos; Bornstein, Michael M

    2016-01-01

    Proper localization of supernumerary teeth is very important for the diagnosis, treatment planning, and prior to any surgical intervention. Traditionally, supernumerary teeth were diagnosed and located using two-dimensional (2D) radiographic methods such as panoramic views, cephalometric imaging, and also intraoral (also often occlusal) radiographs. With the introduction of cone beam computed tomography (CBCT) in dental medicine, this three-dimensional (3D) imaging technique is now more and more used for the exact localisation of supernumerary teeth and the diagnosis of root resorption of adjacent teeth. Treatment planning depends on various factors such as the time of diagnosis, the age of the patient, the position of the supernumerary tooth and possible complications. In the present second part of this review article on supernumerary teeth in the maxilla and mandible, the diagnostic workflow and current treatment concepts will be presented and critically discussed.

  11. Management of Delayed Eruption of Permanent Maxillary Incisor associated with the Presence of Supernumerary Teeth: A Case Report.

    Science.gov (United States)

    Manuja, Naveen; Nagpal, Rajni; Singh, Mousumi; Chaudhary, Seema

    2011-01-01

    A supernumerary tooth is one that is additional to the normal series and can be found in almost any region of the dental arch. Clinically, supernumerary teeth are able to cause different local disorders. It is important for the dentist to be aware of the clinical complications of supernumerary teeth, the most common being the delayed eruption of permanent teeth. Early diagnosis and management of supernumerary teeth is important to prevent the need for more complex surgical and orthodontic treatment. This case report highlights the problem of delayed eruption of permanent maxillary left central incisor in a 9-year-old boy due to two supernumerary teeth, one tuberculate type and other impacted inverted mesiodens.

  12. Management of Delayed Eruption of Permanent Maxillary Incisor associated with the Presence of Supernumerary Teeth: A Case Report

    Science.gov (United States)

    Nagpal, Rajni; Singh, Mousumi; Chaudhary, Seema

    2011-01-01

    A supernumerary tooth is one that is additional to the normal series and can be found in almost any region of the dental arch. Clinically, supernumerary teeth are able to cause different local disorders. It is important for the dentist to be aware of the clinical complications of supernumerary teeth, the most common being the delayed eruption of permanent teeth. Early diagnosis and management of supernumerary teeth is important to prevent the need for more complex surgical and orthodontic treatment. This case report highlights the problem of delayed eruption of permanent maxillary left central incisor in a 9-year-old boy due to two supernumerary teeth, one tuberculate type and other impacted inverted mesiodens. PMID:27678238

  13. Autologous adipocyte derived stem cells favour healing in a minipig model of cutaneous radiation syndrome.

    Directory of Open Access Journals (Sweden)

    Fabien Forcheron

    Full Text Available Cutaneous radiation syndrome (CRS is the delayed consequence of localized skin exposure to high doses of ionizing radiation. Here we examined for the first time in a large animal model the therapeutic potential of autologous adipose tissue-derived stroma cells (ASCs. For experiments, Göttingen minipigs were locally gamma irradiated using a (60Co source at the dose of 50 Gy and grafted (n = 5 or not (n = 8. ASCs were cultured in MEM-alpha with 10% fetal calf serum and basic fibroblast growth factor (2 ng.mL(-1 and post irradiation were intradermally injected on days 25, 46, 67 and finally between days 95 and 115 (50 × 10(6 ASCs each time into the exposed area. All controls exhibited a clinical evolution with final necrosis (day 91. In grafted pigs an ultimate wound healing was observed in four out of five grafted animals (day 130 +/- 28. Immunohistological analysis of cytokeratin expression showed a complete epidermis recovery. Grafted ASCs accumulated at the dermis/subcutis barrier in which they attracted numerous immune cells, and even an increased vasculature in one pig. Globally this study suggests that local injection of ASCs may represent a useful strategy to mitigate CRS.

  14. Expansion of Myeloid-Derived Suppressor Cells in Patients with Acute Coronary Syndrome

    Directory of Open Access Journals (Sweden)

    Yan-ge Wang

    2015-01-01

    Full Text Available Aim: The aim of this study was to explore whether the circulating frequency and function of myeloid-derived suppressor cells (MDSCs are altered in patients with acute coronary syndrome (ACS. Methods: The frequency of MDSCs in peripheral blood was determined by flow cytometry, and mRNA expression in purified MDSCs was analyzed by real-time reverse transcription polymerase chain reaction (RT-PCR. The suppressive function of MDSCs isolated from different groups was also determined. The plasma levels of certain cytokines were determined using Bio-Plex Pro™ Human Cytokine Assays. Results: The frequency of circulating CD14+HLA-DR-/low MDSCs; arginase-1 (Arg-1 expression; and plasma levels of interleukin (IL-1β, IL-6, tumor necrosis factor (TNF-α, and IL-33 were markedly increased in ACS patients compared to stable angina (SA or control patients. Furthermore, MDSCs from ACS patients were more potent suppressors of T-cell proliferation and IFN-γ production than those from the SA or control groups at ratios of 1:4 and 1:2; this effect was partially mediated by Arg-1. In addition, the frequency of MDSCs was positively correlated with plasma levels of IL-6, IL-33, and TNF-α. Conclusions: We observed an increased frequency and suppressive function of MDSCs in ACS patients, a result that may provide insights into the mechanisms involved in ACS.

  15. Radioprotection against radiation induced bone marrow syndrome by a semi-synthetic derivative of chlorophyll

    International Nuclear Information System (INIS)

    Suryavanshi, Shweta; Sharma, Deepak; Checker, Rahul; Santosh Kumar, S.; Sainis, Krishna B.

    2014-01-01

    A plethora of biological properties have been attributed to chlorophyllin (CHL), the water soluble derivative of the green plant pigment chlorophyll. Several studies are available describing its ability to modify genotoxic effects. It has been shown that administration CHL to human lymphopenic individuals led to the recovery and restoration of the immune system and also inhibited aflatoxin B1-DNA binding in individuals residing in high risk exposure to this liver carcinogen. The present study is aimed at establishing radioprotective efficacy of CHL against ionizing radiation induced hematopoietic syndrome. CHL offered complete protection against whole body irradiation (WBI, 7 Gy) induced mortality in mice. This observation was supported by increase in the number of macroscopic endogenous colonies enumerated on the surface of the spleens taken from CHL+WBI group as compared to WBI group. Radioprotection by CHL was found to be mediated by increasing the frequency of hematopoietic stem cells (HSCs) as evaluated by side population assay. Administration of CHL induced G1 arrest in bone marrow cells, increased number of granulocytes and neutrophils in the peripheral blood. At the molecular level, activation of ERK was observed in bone marrow cells obtained from CHL administered mice. In conclusion, CHL mediated radioprotection was attributed to increased stem cell numbers, G1 arrest in bone marrow cells, increased neutrophil numbers and ERK activation. (author)

  16. Empirical derivation to improve the definition of the metabolic syndrome in the evaluation of cardiovascular disease risk.

    Science.gov (United States)

    Wildman, Rachel P; McGinn, Aileen P; Kim, Mimi; Muntner, Paul; Wang, Dan; Cohen, Hillel W; Ogorodnikova, Alexandra D; Reynolds, Kristi; Fonseca, Vivian

    2011-03-01

    To examine whether a quantitatively derived metabolic syndrome definition predicts incident cardiovascular disease (CVD) events better than do existing definitions. Data were pooled from the Atherosclerosis Risk in Communities, Cardiovascular Health, and Framingham Offspring studies (n = 20,581). Incident coronary heart disease and stroke events were ascertained over 9 years. The sensitivity for incident CVD events was higher and the specificity lower for the empirically derived versus the Adult Treatment Panel (ATP) III, International Diabetes Federation (IDF), or Harmonized metabolic syndrome definitions (sensitivity/specificity 0.65/0.53 vs. 0.53/0.63, 0.51/0.66, and 0.64/0.56, respectively), resulting in no overall improvement in discrimination. Multivariable-adjusted hazard ratios for incident CVD events were similar across definitions and were 1.7 (95% CI 1.6-1.9) for ATP III, 1.8 (1.6-2.0) for IDF, 1.9 (1.7-2.0) for Harmonized, and 1.7 (1.6-1.9) for the empirically derived definition. Empirical derivation of the metabolic syndrome definition did not improve CVD discrimination or risk prediction.

  17. Impacted incisors associated with supernumerary teeth treated with a modified Haas appliance.

    Science.gov (United States)

    Sant'Anna, Eduardo Franzotti; Marquezan, Mariana; Sant'Anna, Claudia Franzotti

    2012-12-01

    Tooth impaction involves factors such as lack of space in the alveolar process, trauma, ankylosis, and mechanical barriers such as abnormal frenum, supernumerary teeth, tumors, and local cysts. When impaction occurs in the anterior region, esthetics are compromised. This report describes the successful approach to treatment for a young boy who had 2 supernumerary teeth associated with impaction of the left central and lateral permanent incisors. Treatment consisted of extracting the supernumerary teeth and performing maxillary expansion with a modified Haas appliance to guide the left central incisor into its appropriate position. The teeth erupted spontaneously after maxillary expansion and an increase in space. A fixed edgewise appliance was placed incrementally to correct the maxillary anterior tooth positions and finish the treatment. Adequate esthetics and function were achieved. Copyright © 2012 American Association of Orthodontists. Published by Mosby, Inc. All rights reserved.

  18. Impacted Supernumerary Teeth–Early or Delayed Intervention: Decision Making Dilemma?

    Science.gov (United States)

    Marwah, Nikhil

    2012-01-01

    Abstract Supernumerary teeth are considered to be one of the most significant dental anomalies affecting the primary and early mixed dentition and may cause a variety of pathological disturbances to the developing permanent dentition. Early diagnosis and prompt treatment is necessary for prevention of deleterious effects on dentoalveolar structures. However, the time of intervention is the most crucial factor governing the outcome of surgical management of hyperdontia. The aim of this case report is to share knowledge about management of such cases, which might assist the clinician in decision-making in cases of impacted supernumerary teeth. How to cite this article: Gupta S, Marwah N. Impacted Supernumerary Teeth–Early or Delayed Intervention: Decision Making Dilemma?. Int J Clin Pediatr Dent 2012;5(3):226-230. PMID:25206175

  19. Impacted supernumerary teeth-early or delayed intervention: decision making dilemma?

    Science.gov (United States)

    Gupta, Seema; Marwah, Nikhil

    2012-09-01

    Supernumerary teeth are considered to be one of the most significant dental anomalies affecting the primary and early mixed dentition and may cause a variety of pathological disturbances to the developing permanent dentition. Early diagnosis and prompt treatment is necessary for prevention of deleterious effects on dentoalveolar structures. However, the time of intervention is the most crucial factor governing the outcome of surgical management of hyperdontia. The aim of this case report is to share knowledge about management of such cases, which might assist the clinician in decision-making in cases of impacted supernumerary teeth. How to cite this article: Gupta S, Marwah N. Impacted Supernumerary Teeth-Early or Delayed Intervention: Decision Making Dilemma?. Int J Clin Pediatr Dent 2012;5(3):226-230.

  20. Morphological and topographical characteristics of posterior supernumerary molar teeth: an epidemiological study on 25,186 subjects.

    Science.gov (United States)

    Cassetta, Michele; Altieri, Federica; Giansanti, Matteo; Di-Giorgio, Roberto; Calasso, Sabrina

    2014-11-01

    To investigate the prevalence , gender difference , arch , morphology and position within the arch of supernumerary molar (SM) teeth in a referred Italian Caucasian population. Records of 25,186 young patients were evaluated. Only data related to supernumerary teeth in the posterior region of the jaws were analyzed. The diagnosis of hyperdontia was formulated during the clinical and radiological examinations based on panoramic radiographs. Statistical analysis was conducted at level of subjects in the assessment of prevalence of SMs and sex ratio. Statistical analysis was conducted at level of teeth according to their morphological and topographic characteristics. The analysis of association between supernumerary morphology and arch, between supernumerary position and arch and between morphology and position was performed using the χ2 test (P≤ 0.05). 61 posterior supernumerary teeth were found in 45 patients. The male to female ratio was 2.5:1 ;the mean age was 21.23 (IC:95%).The SMs were found more frequently in the maxilla (62.3%) than in the mandible; supernumerary teeth (60.7%) were more frequent than supplemental teeth. The SMs were mostly of tuberculate shape (56.8%) and paramolars teeth (64.9%) were more common than distomolars. 54% of teeth were erupted in the arch. No statistically significant relationship were found between the supernumerary teeth shape and the arch (P= 0.087) , between supernumerary teeth position and the arch (P=0.511) and between morphology and position (P=0.216). Epidemiological studies related to supernumerary teeth can be useful to clinicians in the early diagnosis of this anomaly. In this retrospective study the prevalence of SMs was 0.18%. SMs were more frequent in males and in the maxilla. Supernumerary were more frequent than supplemental; the conical morphology and paramolar position were the most common shape and position.

  1. Unusual Case of a Talon Cusp on a Supernumerary Tooth in Association with a Mesiodens

    Directory of Open Access Journals (Sweden)

    Prashant Babaji

    2010-06-01

    Full Text Available Talon cusp is an accessory cusp similar to a projection, extending from the cingulum or cemento-enamel junction to the incisal edge. It occurs on labial or palatal surfaces of primary or permanent anterior teeth in both arches. This accessory cusp can occur as an isolated entity or in association with other dental anomalies. Occurrence of a talon cusp on supernumerary teeth is rare and uncommon. This paper reports an unusual case of a talon cusp on a supernumerary tooth in association with mesiodens.

  2. Navigation-Guided Extraction of Impacted Supernumerary Teeth: A Case Report.

    Science.gov (United States)

    Wang, Jing; Cui, Nian-Hui; Guo, Yu-Jiao; Zhang, Wei

    2017-06-01

    Supernumerary teeth usually result in retarded eruption, malocclusion, poor esthetics, and cyst formation. Management involves surgical extraction, which can be challenging in certain complicated cases owing to the risk of injury to young permanent tooth germs or fragile roots. The present report describes a novel preoperative computer-assisted and intraoperative navigation-guided surgical treatment for a case of complicated impacted supernumerary teeth. The report highlights accurate tooth location and minimal invasion with use of the navigation-guided system. Moreover, it discusses various treatment considerations during such a procedure. Copyright © 2017 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  3. Unusual case of a talon cusp on a supernumerary tooth in association with a mesiodens.

    Science.gov (United States)

    Babaji, Prashant; Sanadi, Firoza; Melkundi, Mahesh

    2010-01-01

    Talon cusp is an accessory cusp similar to a projection, extending from the cingulum or cemento-enamel junction to the incisal edge. It occurs on labial or palatal surfaces of primary or permanent anterior teeth in both arches. This accessory cusp can occur as an isolated entity or in association with other dental anomalies. Occurrence of a talon cusp on supernu-merary teeth is rare and uncommon. This paper reports an unusual case of a talon cusp on a supernumerary tooth in association with mesiodens.

  4. Diagnosis and Management of Supernumerary (Mesiodens: A Review of the Literature

    Directory of Open Access Journals (Sweden)

    G. Meighani

    2010-03-01

    Full Text Available Supernumerary tooth is one of the developmental problems in children. Mesiodens is a supernumerary tooth present in the midline between the two central incisors. It usually results in oral problems such as malocclusion, food impaction, poor aesthetics, and cyst formation. The prevalence of mesiodens varies between 0.09% and 2.05% in different studies.This paper reviews current literature on etiology, prevalence, diagnosis, and management of this problem. Accordingly, early diagnosis and treatment is suggested to preventorthodontic and pathologic complications.

  5. Dentigerous cyst in the maxilla associated with two supernumerary teeth: A rare entity

    Directory of Open Access Journals (Sweden)

    Sk. Abdul Mahmud

    2015-01-01

    Full Text Available A dentigerous cyst is a developmental odontogenic cyst, which apparently develops by accumulation of fluid between the reduced enamel epithelium and the crown of an unerupted tooth. Through various cases that have been reported, it is observed that 95% of this cyst is associated with permanent dentition while only 5-6% is in association with supernumerary teeth. Mesiodens, a supernumerary tooth situated between the maxillary central incisors, has a prevalence of 0.15-1.9%. Here, a dentigerous cyst in association with a pair of impacted mesiodens is reported in a 56-year-old female patient.

  6. Paramolar – A supernumerary molar: A case report and an overview

    Science.gov (United States)

    Nayak, Gurudutt; Shetty, Shashit; Singh, Inderpreet; Pitalia, Deepti

    2012-01-01

    Paramolar is a supernumerary molar usually small and rudimentary, most commonly situated buccally or palatally to one of the maxillary molars. Paramolar is a developmental anomaly and has been argued to arise from a combination of genetic and environmental factors. Reports of this entity are rarely found in the dental literature. This article presents a case report of an unusual occurrence of a paramolar in the maxilla in otherwise a healthy individual. In addition, literature review, prevalence, classification, etiology, complications, diagnosis, and therapeutic strategies that may be adopted when supernumeraries occurs have been discussed. PMID:23559961

  7. Bilateral double dens invaginatus in multituberculated maxillary central incisors with impacted supernumerary teeth: A rare case

    Directory of Open Access Journals (Sweden)

    Pradhuman Verma

    2015-01-01

    Full Text Available Dens Invaginatus (DI is a rare developmental malformation of teeth, resulting from an infolding of dental papilla. The increased risk of pulpal pathologies associated with DI makes it clinical relevant. Only few cases have been reported where double DI was found associated with supernumerary teeth. Diagnosis of DI with the conventional radiographs is not easy, so advanced imaging modalities are must. This paper highlights a rare case of bilateral double DI in multituberculated maxillary central incisors with impacted supernumerary teeth with its clinical and imaging features.

  8. Quality of life for post-polio syndrome: a patient derived, Rasch standard scale.

    Science.gov (United States)

    Young, Carolyn A; Quincey, Anne-Marie C; Wong, Samantha M; Tennant, Alan

    2018-03-01

    To design a disease-specific quality of life (QoL) questionnaire for people with post-polio syndrome (PPS). Qualitative interviews were conducted with 45 people with PPS to identify themes and derive potential items reflecting impact upon QoL. After cognitive debriefing, these were made into a questionnaire pack along with comparative questionnaires and posted to 319 patients. The 271 (85%) returned questionnaires were subjected to exploratory factor analysis (EFA) and Rasch analysis. A 25 item scale, the post-polio quality of life scale (PP-QoL), showed good fit to the Rasch model (conditional chi-square p = 0.156), unidimensionality (% t-tests 2.0: CI 0.7-3.8), and Cronbach's alpha of 0.87. With the latent estimate transformed to a 0-100 scale, the mean score was 56.9 (SD 18.5) with only 3.3% of respondents at the floor or ceiling of the scale. Test-retest reliability showed an intraclass correlation coefficient (ICC) (2.1) of 0.916, and correlation of 0.85. The disease-specific PP-QoL demonstrated excellent reliability, appropriate concurrent validity, and satisfied the standards of the Rasch model. It enables examination of the impact of health status upon perceived QoL, and the impact of rehabilitation interventions. The scale is freely available for academic or not-for-profit users to improve research in this neglected, disabling condition. Implications for Rehabilitation In post-polio syndrome (PPS), existing work examines aspects of health-related quality of life (HRQoL), such as activity limitations. A disease-specific QoL measure would enable researchers to model the impact of health status, such as fatigue or mobility restrictions, upon QoL in PPS. The post-polio quality of life scale (PP-QoL) is based on the patients' lived experience, meets Rasch standards and is free for use for academic and not-for-profit researchers. The raw score is reliable for individual use in clinical settings, and interval scale transformation is available for parametric

  9. Chromosome 21-derived MicroRNAs Provide an Etiological Basis for Aberrant Protein Expression in Human Down Syndrome Brains*

    OpenAIRE

    Kuhn, Donald E.; Nuovo, Gerard J.; Terry, Alvin V.; Martin, Mickey M.; Malana, Geraldine E.; Sansom, Sarah E.; Pleister, Adam P.; Beck, Wayne D.; Head, Elizabeth; Feldman, David S.; Elton, Terry S.

    2009-01-01

    Down syndrome (DS), or Trisomy 21, is the most common genetic cause of cognitive impairment and congenital heart defects in the human population. Bioinformatic annotation has established that human chromosome 21 (Hsa21) harbors five microRNA (miRNAs) genes: miR-99a, let-7c, miR-125b-2, miR-155, and miR-802. Our laboratory recently demonstrated that Hsa21-derived miRNAs are overexpressed in DS brain and heart specimens. The aim of this study was to identify important Hsa21-derived miRNA/mRNA t...

  10. Satellite DNA content illuminates the ancestry of a supernumerary (B) chromosome.

    Science.gov (United States)

    Ruiz-Ruano, Francisco J; Cabrero, Josefa; López-León, María Dolores; Camacho, Juan Pedro M

    2017-08-01

    B chromosomes are supernumerary genomic elements most likely derived from the standard (A) chromosomes, whose dispensability has freed their DNA sequences to evolve fast, thus making it difficult to uncover their ancestry. Here, we show the ancestry of a B chromosome in the grasshopper Eumigus monticola by means of the high-throughput analysis of the satellitome, i.e., the whole collection of satellite DNA (satDNA). The satellitome found in this species consists of 27 satDNA families, with monomer length between 5 and 325 nt and A + T content between 42.9 and 83.3 %. Two out of the 20 clustered satDNA families (EmoSat26-41 and EmoSat27-102) were observed only on the B chromosome. The A chromosome carrying the highest number of satDNA families was the megameric S8 (13 families), six of which were also present in the B chromosome, and three of these were exclusive of the S8 and B chromosomes. The absence in the B chromosome of the H3 histone gene cluster (located interstitially on S8) and three satDNA families (located distally on S8) allowed delimiting the possible origin of the B chromosome to the proximal third of the S8 autosome, through a breakpoint between EmoSat11-122 and the H3 cluster. Interestingly, bioinformatic analysis revealed the presence of seeds for the two B-specific satDNAs in the A chromosomes, suggesting their massive amplification in the B chromosome after its origin. Therefore, intraspecifically arisen B chromosomes can harbor DNA sequences apparently being B-specific.

  11. Vaccine-derived poliomyelitis and postpolio syndrome: an Italian Cutter Incident

    Science.gov (United States)

    Guarascio, Paolo

    2014-01-01

    Post-polio syndrome is a condition characterized by increased muscle weakness, atrophy, fatigue and pain developing several years after the acute polio event. We describe a 52-year-old patient who experienced post-polio syndrome; he had contracted acute paralytic poliomyelitis at 12 months of age, shortly after the third dose of Salk polio vaccine. PMID:25057364

  12. Vaccine-derived poliomyelitis and postpolio syndrome: an Italian Cutter Incident

    OpenAIRE

    Lusi, Elena Angela; Guarascio, Paolo

    2014-01-01

    Post-polio syndrome is a condition characterized by increased muscle weakness, atrophy, fatigue and pain developing several years after the acute polio event. We describe a 52-year-old patient who experienced post-polio syndrome; he had contracted acute paralytic poliomyelitis at 12 months of age, shortly after the third dose of Salk polio vaccine.

  13. Derivative 11;22 (Emanuel Syndrome: A Case Report and A Review

    Directory of Open Access Journals (Sweden)

    Madan Gopal Choudhary

    2013-01-01

    Full Text Available Emanuel syndrome (ES is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate, with the classical features of Emanuel syndrome.

  14. A rarity in diagnosis - Non-syndromic concomitant Hypo-hyperdontia

    Directory of Open Access Journals (Sweden)

    Nishant Chourasia

    2012-01-01

    Full Text Available Though developmental defects of human dentition are not uncommon, agenesis of teeth in a patient who also presents with a supernumerary tooth, is one of the rare numerical anomalies in human dentition known as concomitant hypo-hyperdontia. Due to its occasional occurrence and lack of knowledge about hypo-hyperdontia, diagnosing this condition may be difficult or may be missed by dental practitioners. Many syndromes may also mask early detection of these cases, thus neglecting many treatment planning considerations of the dentition. This review paper presents literature on concomitant hypo- hyperdontia at a glance, so that clinicians can derive assistance in dealing with this anomaly, should they ever come across it.

  15. Taurodontism in children with hypodontia and supernumerary teeth: a case control study.

    Science.gov (United States)

    Kan, Wayne Y W; Seow, W Kim; Holcombe, Trevor

    2010-01-01

    The aim of the present investigation was to compare the prevalence of taurodontism in the permanent mandibular first molars of nonsyndromic children with hypodontia and supernumerary teeth with age- and gender-matched controls. The crown-body root ratios of the permanent first molars were determined from orthopantomograms of 83 children with hypodontia (> or =1 missing teeth) and 37 children with supernumerary teeth (> or =1 extra teeth) compared with normal case controls. In children with hypodontia, only girls showed a significantly higher tendency for taurodontism compared to case controls (P=.003), while boys with hypodontia showed a similar prevalence of taurodontism as controls (P=.83). Children with multiple missing teeth were significantly more susceptible to taurodontism than children with a single missing tooth (P=.004). By contrast, the prevalence of taurodontism in children with supernumerary teeth was not significantly different from that of controls. Compared to normal case controls, children with nonsyndromic hypodontia are more likely to show taurodontism of the permanent first molar teeth whereas children with nonsyndromic supernumerary teeth are not.

  16. Multiple crown size variables of the upper incisors in patients with supernumerary teeth compared with controls

    NARCIS (Netherlands)

    Khalaf, K.; Smith, R. N.; Elcock, C.; Brook, A. H.

    2009-01-01

    Aims: As part of ongoing studies of the aetiology of dental anomalies the aims of this study were to identify multiple components of tooth size of the upper permanent incisors in 34 patients with supernumerary teeth and to compare them with those in a control group to determine whether the presence

  17. Supernumerary Molars and Wisdom Tooth Shape Alterations in Patients with Neurofibromatosis Type 1

    Directory of Open Access Journals (Sweden)

    Reinhard E. Friedrich

    2017-12-01

    Full Text Available Objectives: The purpose of the present study was the systematic investigation of numerical and morphological aberrations of teeth in the wisdom teeth region in neurofibromatosis type 1 patients. Material and Methods: The panoramic radiographs of 179 patients were analysed for supernumerary molars and dysplastic wisdom teeth with special reference to facial tumour type. The results were compared to radiographic findings obtained in panoramic radiographs of age- and sex-matched controls. Results: The total number of dysplastic or supernumerary molars was 21 (17 individuals, 4.75% and predominantly a finding of the maxilla (maxilla: 15, mandible: 1, maxilla and mandible: 1. Differences of dental findings between neurofibromatosis type 1 (NF1 patients (n = 15 and the control group (n = 2 were statistically significant (P < 0.01. All individuals with supernumerary molars were diagnosed as being affected with NF1. This difference achieved statistical significance when it was considered that the event may occur at least once per quadrant, and thus the individual potentially needs to be considered four times (P = 0.0038. Conclusions: This investigation revealed that supernumerary molars and aberrations in wisdom tooth form are more common in patients than in age- and sex-matched controls. There is no association between these findings and a specific feature of the disease, id est facial manifestation of a trigeminal nerve sheath tumour (plexiform neurofibroma. The cause of this phenomenon is unknown. A review of these dental findings on other neurofibromatosis type 1 study groups should be attempted.

  18. Evaluation of the accuracy of cone beam computed tomography on measuring impacted supernumerary teeth.

    Science.gov (United States)

    Demiriz, Levent; Hazar Bodrumlu, Ebru; İçen, Murat; Durmuşlar, Mustafa Cenk

    2016-11-01

    Supernumerary teeth may affect the tooth eruption negatively if they occur on the eruption way, and the treatment choice is usually the extraction to prevent the impaction of adjacent permanent teeth. CBCT enables clear and three dimensional images, and it may be helpful to determine the exact location and to measure the dimensions of the supernumerary tooth to avoid any complication during the extraction process. The aim of the present study was to evaluate the accuracy of CBCT on measuring the tooth length and crown width of impacted supernumerary teeth. Twenty-five impacted supernumerary teeth were evaluated using CBCT, and each sample's tooth length and crown width were measured prior to the extraction. After all the extractions were completed, the actual measurements were performed on the same samples. The differences between CBCT and actual measurements were evaluated statistically. Measurements on CBCT images were significantly larger than the actual measurements on tooth length and crown width. For tooth length and crown width, p value was found as 0.045, and <0.001, respectively. The results of the present study should be considered as important by clinicians during the treatment planning to decrease any complication risk under certain conditions such as being so close to an important anatomical structure or the root of an adjacent tooth. SCANNING 38:579-584, 2016. © 2016 Wiley Periodicals, Inc. © Wiley Periodicals, Inc.

  19. [Diagnosis and treatment of supernumerary teeth in the premaxillary region: a literature review].

    Science.gov (United States)

    Ratson, T

    2013-01-01

    Supernumerary teeth are more frequently located in the premaxillary region. Mesiodentes are the most common supernumerary teeth, occurring in 0.15% to 1.9% of the population. Supernumerary teeth are frequently diagnosed in a random radiograph, or after clinical symptoms appear. The majority of the complications consist of delayed or ectopic eruption of the permanent incisors. It is important for the clinician to be aware of the phenomenon and its implications, in order to diagnose it as early as possible. Extraction of the supernumerary teeth in the late mixed dentition, will minimize the chances of damaging the adjacent permanent teeth, but will reduce the possibility of spontaneous eruption of an impacted permanent incisor. Extraction in the early mixed dentition can expedite the eruption of the permanent incisor, although it may involve sedation or general anesthesia, due to lack of cooperation in the young patient. Because to the risk of uneruption of the permanent impacted incisor, exposure of the teeth and bonding a ligature or bracket at the same procedure, and providing a possibility for the dentist to make the incisor erupt after the first operation, should the incisor not erupt spontaneously. Treating these cases require the cooperation of pediatric dentist, orthodontic and dental surgeon, and sometimes the involvement of an anesthesiologist.

  20. Multiple unerupted and supernumerary teeth in a patient with cleidocranial dysplasia.

    Science.gov (United States)

    Omami, Galal

    2018-02-01

    Cleidocranial dysplasia is an extremely rare familial disorder characterized by partial or complete absence of clavicles, characteristic craniofacial deformities, and the presence of numerous supernumerary and unerupted teeth. Here, the author reviews the striking radiographic findings of cleidocranial dysplasia in a 16-year-old adolescent boy who presented with delayed teeth eruption.

  1. Supernumerary right kidney with it own urethra: a case report and ...

    African Journals Online (AJOL)

    Supernumerary right kidney with it own urethra: a case report and literature review. Ilunga Kandolo Simon, Matungulu Matungulu Charles, Musau Nkola Angel, Kimba Mukanya Pascal, Mwarabu Much'apa Bienfait, Lumbu Nora, Ndaie Kabamba Julie, Kabange Umba Irene, Elmer Delgado, Kabyla Ilunga Benjamin, Ngongo ...

  2. Multidisciplinary management of impacted central incisors due to supernumerary teeth and an associated dentigerous cyst

    Directory of Open Access Journals (Sweden)

    Ritesh R Kalaskar

    2011-01-01

    Full Text Available Supernumerary teeth are the most common developmental dental anomaly resulting from hyperactivity of dental lamina, dichotomy, environmental factor, or polygenetic process of atavism. Supernumerary teeth present classical oral complication such as impaction of adjacent teeth, crowding, diastema formation, rotation, displacement of teeth, and occlusal interference. A dentigerous cyst associated with anterior supernumerary teeth (mesiodens is rare and accounts for 5% of all dentigerous cysts. The present case reports describe the successful management of the impacted permanent maxillary central incisor positioned high in the vestibule. A combination of surgical and orthodontic techniques was employed to improve treatment outcome with greater hard and soft tissue preservation and to prevent psychological problems. In the surgical phase, supernumerary teeth and dentigerous cyst were removed. Subsequently traction was employed by bonding bracket on the labial surface using closed and open eruption techniques. Successively, fixed orthodontic treatment was started to align permanent maxillary central incisors in an occlusal plane. Thus, combination of surgical and orthodontic method can be the treatment of choice over surgical extraction, implant placement, and surgical repositioning.

  3. Multidisciplinary management of impacted central incisors due to supernumerary teeth and an associated dentigerous cyst.

    Science.gov (United States)

    Kalaskar, Ritesh R; Kalaskar, Ashita R

    2011-01-01

    Supernumerary teeth are the most common developmental dental anomaly resulting from hyperactivity of dental lamina, dichotomy, environmental factor, or polygenetic process of atavism. Supernumerary teeth present classical oral complication such as impaction of adjacent teeth, crowding, diastema formation, rotation, displacement of teeth, and occlusal interference. A dentigerous cyst associated with anterior supernumerary teeth (mesiodens) is rare and accounts for 5% of all dentigerous cysts. The present case reports describe the successful management of the impacted permanent maxillary central incisor positioned high in the vestibule. A combination of surgical and orthodontic techniques was employed to improve treatment outcome with greater hard and soft tissue preservation and to prevent psychological problems. In the surgical phase, supernumerary teeth and dentigerous cyst were removed. Subsequently traction was employed by bonding bracket on the labial surface using closed and open eruption techniques. Successively, fixed orthodontic treatment was started to align permanent maxillary central incisors in an occlusal plane. Thus, combination of surgical and orthodontic method can be the treatment of choice over surgical extraction, implant placement, and surgical repositioning.

  4. An impacted central incisor due to supernumerary teeth: a multidisciplinary approach.

    Science.gov (United States)

    Ferrazzano, G F; Cantile, T; Roberto, L; Baldares, S; Manzo, P; Martina, R

    2014-07-01

    Hyperdontia is a disorder of odontogenesis characterised by excess teeth. Many complications can be associated with supernumerary teeth, such as crowding, tooth displacement, diastema, deep caries, retention or impaction, delayed eruption or ectopic eruption of adjacent teeth, aesthetic problems, neuralgic manifestations, root resorption of adjacent teeth, and dentigerous cyst formation with significant bone destruction. Treatment of hyperdontia depends on the area and number of supernumerary teeth, and also on the presence of pathologic processes that can affect them and/or the teeth of the normal series that could be erupted, retained or impacted. The present case report describes the clinical management of two impacted supernumerary teeth, which impeded the eruption of the maxillary right central incisor in a paediatric patient. A multidisciplinary treatment approach was planned, including the surgical removal of the supernumerary teeth and the orthodontic correction of the unerupted permanent maxillary right central incisor. Combined surgical and orthodontic treatment resulted in an aesthetically pleasant and balanced occlusion. Thus, early multidisciplinary treatment is required for greater hard and soft tissue preservation.

  5. Treatment of an impacted supernumerary tooth using limited fixed orthodontic appliances.

    Science.gov (United States)

    Park, Jae Hyun; Tai, Kiyoshi; Kanao, Akira

    2013-01-01

    A 42-year and 9-month-old female with an impacted supernumerary tooth was treated with limited fixed orthodontic appliances. As seen in this case, it is possible to successfully treat impacted teeth in adults even though the most common time to treat impactions is during adolescence.

  6. Preoperative localization of supernumerary and ectopic parathyroid glands in patients with secondary hyperparathyroidism

    International Nuclear Information System (INIS)

    Tominaga, Yoshihiro; Kano, Tadayuki; Tanaka, Yuji; Uchida, Kazuharu; Yamada, Nobuo; Kawai, Machio; Takagi, Hiroshi.

    1989-01-01

    The undetectable supernumerary and ectopic parathyroid glands have a high risk of persistent and recurrent hyperparathyroidism, especially in the patients with secondary hyperparathyroidism. Preoperative image diagnosis, CT scan, echogram and 201 TlCl scintigram were very useful for detecting supernumerary and ectopic parathyroid glands in our 132 patients who underwent parathyroidectomy for secondary hyperparathyroidism. Among these methods the scintigraphy showed the highest detection rate of the glands located in the thyroid gland and those located between the thyroid gland and trachea. The echography was useful in detecting the glands in the thyroid gland, but could not offer easy visualization those located in the mediastinum. Even the ectopic parathyroid glands, weighing more than 500 mg were identifiable at about 90% when all the methods were applied routinely. In our experience, four patients had a supernumerary gland which was detected by the preoperative image diagnostic procedures at the initial surgery. One patient had a supernumerary gland in the mediastinum which was detected by image diagnosis after the initial operation and was removed at reoperation. (author)

  7. Clinical management of a fused upper premolar with supernumerary tooth: a case report

    Directory of Open Access Journals (Sweden)

    Kyu-Min Cho

    2014-11-01

    Full Text Available n dentistry, the term 'fusion' is used to describe a developmental disorder of dental hard tissues. In the permanent dentition, fusion of a normal tooth and a supernumerary tooth usually involves the incisors or canines. However, a few cases of fusion involving premolars have also been reported to date. We present a rare case in which fusion of the maxillary left second premolar and a supernumerary tooth in a 13-year-old girl was diagnosed using cone beam computed tomography (CBCT, Alphard-3030, Asahi Roentgen Ind. Co., Ltd.. The tooth was bicuspidized after routine nonsurgical root canal treatment, and the separated teeth underwent appropriate restoration procedures. The second premolar and supernumerary tooth remained asymptomatic without any signs of inflammation after a follow-up period of 9 years. Identification of anatomical anomalies is important for treatment in cases involving fusion with supernumerary tooth, and therefore the microscopic examinations and CBCT are essential for the diagnosis. Fused teeth can be effectively managed by the comprehensive treatment which includes both endodontic and periodontal procedures.

  8. Thrombospondin-derived peptide attenuates Sjögren's syndrome-associated ocular surface inflammation in mice.

    Science.gov (United States)

    Contreras Ruiz, L; Mir, F A; Turpie, B; Masli, S

    2017-04-01

    Sjögren's syndrome is the second most common rheumatic disease in which autoimmune response targets exocrine glands (salivary and lacrimal glands) result in clinical symptoms of dry mouth and dry eye. Inflammation of the lacrimal gland induces tear abnormalities that contribute to the inflammation of the ocular surface, which includes ocular mucosa. Thrombospondin-1 (TSP-1) plays a critical regulatory role in the ocular mucosa and as such TSP-1 -/- mice develop spontaneously chronic ocular surface inflammation associated with Sjögren's syndrome. The autoimmune pathology is also accompanied by a peripheral imbalance in regulatory (T reg ) and inflammatory Th17 effectors. In this study, we demonstrate an in-vitro effect of a CD47-binding TSP-derived peptide in the induction of transforming growth factor (TGF)-β1-secreting forkhead box protein 2 (Foxp3 + ) T regs from activated CD4 + CD25 - T cells and the inhibition of pathogenic T helper type 17 (Th17)-promoting interleukin (IL)-23 derived from antigen-presenting cells. The in-vivo administration of this peptide promotes Foxp3 + T reg induction and inhibition of Th17 development. Consistent with these results, topical administration of CD47-binding TSP peptide, both before and after the onset of the disease, attenuates clinical symptoms of SS-associated dry eye in TSP-1 -/- mice. Augmented expression of Foxp3 detected in the draining lymph nodes of TSP peptide -treated mice compared to those treated with control peptide suggests the ability of TSP peptide to restore peripheral immune imbalance. Thus, our results suggest that TSP-derived peptide attenuates Sjögren's syndrome-associated dry eye and autoimmune inflammation by preventing Th17 development while promoting the induction of T regs . Collectively, our data identify TSP-derived peptide as a novel therapeutic option to treat autoimmune diseases. © 2017 British Society for Immunology.

  9. Incidence of impacted and supernumerary teeth-a radiographic study in a North Greek population.

    Science.gov (United States)

    Fardi, Anastasia; Kondylidou-Sidira, Athena; Bachour, Zaki; Parisis, Nikolaos; Tsirlis, Anastasios

    2011-01-01

    The aim of the present study was to investigate the prevalence of impacted and supernumerary teeth, apart from third molars. This was a retrospective study of 1.239 panoramic radiographs taken of patients who presented to the Department of Dentoalveolar Surgery, Implantology and Radiology at the School of Dentistry of the Aristotle University of Thessaloniki, Greece between 1991 and 1999. The panoramic radiographs and dental records were reviewed in order to determine whether there were impacted or supernumerary teeth. Observations were also made on the space in dentition, corresponding to the position of each impacted tooth, the lack of space for tooth eruption, transmigration, retained primary teeth or prosthetic restoration. A total of 170 (13.7%) patients presented with at least one impacted tooth. None of them had an impacted incisor. Impacted canines were the most prevalent dental anomaly (8.8%), followed by impacted premolars (2.2%). Supernumerary teeth (1.8%) and impacted molars (1%) were the least common anomalies. Among the 225 impacted teeth, the most frequently affected teeth were the canines (59.6%), followed by premolars (19.1%), and supernumerary teeth (15.1%), while the incidence of impacted molars was substantially lower (6.2%). The most frequently impacted teeth were the maxillary canine, the second mandibular premolar and the second mandibular molar. The majority of the supernumerary teeth consisted of mesiodens. There was space in the dentition of each impacted tooth in 29.3% of the cases examined; there was a retained primary tooth in 25.1%, and a prosthetic restoration had been constructed in 24%. Insufficient space for the eruption of the impacted tooth and transmigration was observed in 17.3% and 4.2% of the cases, respectively.

  10. The genome of Nectria haematococca: contribution of supernumerary chromosomes to gene expansion

    Energy Technology Data Exchange (ETDEWEB)

    Coleman, J.J.; Rounsley, S.D.; Rodriguez-Carres, M.; Kuo, A.; Wasmann, C.c.; Grimwood, J.; Schmutz, J.; Taga, M.; White, G.J.; Zhuo, S.; Schwartz, D.C.; Freitag, M.; Ma, L.-J.; Danchin, E.G.J.; Henrissat, B.; Cutinho, P.M.; Nelson, D.R.; Straney, D.; Napoli, C.A.; Baker, B.M.; Gribskov, M.; Rep, M.; Kroken, S.; Molnar, I.; Rensing, C.; Kennell, J.C.; Zamora, J.; Farman, M.L.; Selker, E.U.; Salamov, A.; Shapiro, H.; Pangilinan, J.; Lindquist, E.; Lamers, C.; Grigoriev, I.V.; Geiser, D.M.; Covert, S.F.; Temporini, S.; VanEtten, H.D.

    2009-04-20

    The ascomycetous fungus Nectria haematococca, (asexual name Fusarium solani), is a member of a group of .50 species known as the"Fusarium solani species complex". Members of this complex have diverse biological properties including the ability to cause disease on .100 genera of plants and opportunistic infections in humans. The current research analyzed the most extensively studied member of this complex, N. haematococca mating population VI (MPVI). Several genes controlling the ability of individual isolates of this species to colonize specific habitats are located on supernumerary chromosomes. Optical mapping revealed that the sequenced isolate has 17 chromosomes ranging from 530 kb to 6.52 Mb and that the physical size of the genome, 54.43 Mb, and the number of predicted genes, 15,707, are among the largest reported for ascomycetes. Two classes of genes have contributed to gene expansion: specific genes that are not found in other fungi including its closest sequenced relative, Fusarium graminearum; and genes that commonly occur as single copies in other fungi but are present as multiple copies in N. haematococca MPVI. Some of these additional genes appear to have resulted from gene duplication events, while others may have been acquired through horizontal gene transfer. The supernumerary nature of three chromosomes, 14, 15, and 17, was confirmed by their absence in pulsed field gel electrophoresis experiments of some isolates and by demonstrating that these isolates lacked chromosome-specific sequences found on the ends of these chromosomes. These supernumerary chromosomes contain more repeat sequences, are enriched in unique and duplicated genes, and have a lower G+C content in comparison to the other chromosomes. Although the origin(s) of the extra genes and the supernumerary chromosomes is not known, the gene expansion and its large genome size are consistent with this species' diverse range of habitats. Furthermore, the presence of unique genes on

  11. New therapeutic option for irritable bowel syndrome: serum-derived bovine immunoglobulin.

    Science.gov (United States)

    Good, Larry; Rosario, Roxanne; Panas, Raymond

    2015-03-21

    Oral prescription medical foods have long been used in hospital settings but are also appropriate therapies for gastrointestinal disorders in outpatient medical practice. Oral serum-derived bovine immunoglobulin/protein isolate (SBI) has been shown in clinical studies to reduce loose stools and improve stool consistency as well as other symptoms (i.e., abdominal pain, bloating, and urgency) in patients with irritable bowel syndrome with diarrhea (IBS-D) and human immunodeficiency virus-associated enteropathy. This case series reports the outcomes of 14 IBS patients who received SBI as an addition to standard of care at an individual physician's clinical practice. The patients: 2 IBS with constipation (IBS-C), 7 IBS-D, 2 mixed diarrhea and constipation IBS (IBS-M) and 3 undefined IBS (IBS-U; also described by some physicians as IBS-Bloating), ranged in age from 22-87 years. SBI (5 g or 10 g daily dose) was added to the patient's current standard care and followed for several weeks to determine if symptoms were improved with the addition of SBI. Overall, 12 of the 14 patients indicated some level of improvement through direct questioning of the patients regarding changes from the prior visit. One IBS-Bloating patient had a resolution of symptoms and two patients (1 IBS-Bloating and 1 IBS-C) discontinued therapy because of insufficient relief. The 12 patients who continued on therapy reported an overall improvement in symptoms with better stool consistency, decreased frequency as well as reductions in abdominal pain, bloating, distention, and incontinence. In most cases, therapeutic effects of SBI were seen within the first four weeks of therapy with continued improvements at subsequent visits. SBI has a multifaceted mechanism of action and may help to manage IBS by providing a distinct protein source required to normalize bowel function, gastrointestinal microbiota, and nutritionally enhance tight junction protein expression between intestinal epithelial cells. SBI

  12. Animal derived surfactant extract versus protein free synthetic surfactant for the prevention and treatment of respiratory distress syndrome.

    Science.gov (United States)

    Ardell, Stephanie; Pfister, Robert H; Soll, Roger

    2015-08-24

    A wide variety of surfactant preparations have been developed and tested including synthetic surfactants and surfactants derived from animal sources. Although clinical trials have demonstrated that both synthetic surfactant and animal derived surfactant preparations are effective, comparison in animal models has suggested that there may be greater efficacy of animal derived surfactant products, perhaps due to the protein content of animal derived surfactant. To compare the effect of animal derived surfactant to protein free synthetic surfactant preparations in preterm infants at risk for or having respiratory distress syndrome (RDS). Searches were updated of the Cochrane Central Register of Controlled Trials (CENTRAL) in The Cochrane Library (2014), PubMed, CINAHL and EMBASE (1975 through November 2014). All languages were included. Randomized controlled trials comparing administration of protein free synthetic surfactants to administration of animal derived surfactant extracts in preterm infants at risk for or having respiratory distress syndrome were considered for this review. Data collection and analysis were conducted according to the standards of the Cochrane Neonatal Review Group. Fifteen trials met the inclusion criteria. The meta-analysis showed that the use of animal derived surfactant rather than protein free synthetic surfactant resulted in a significant reduction in the risk of pneumothorax [typical relative risk (RR) 0.65, 95% CI 0.55 to 0.77; typical risk difference (RD) -0.04, 95% CI -0.06 to -0.02; number needed to treat to benefit (NNTB) 25; 11 studies, 5356 infants] and a marginal reduction in the risk of mortality (typical RR 0.89, 95% CI 0.79 to 0.99; typical RD -0.02, 95% CI -0.04 to -0.00; NNTB 50; 13 studies, 5413 infants).Animal derived surfactant was associated with an increase in the risk of necrotizing enterocolitis [typical RR 1.38, 95% CI 1.08 to 1.76; typical RD 0.02, 95% CI 0.01 to 0.04; number needed to treat to harm (NNTH) 50; 8

  13. Surgical management of impacted incisors in associate with supernumerary teeth: A combine case report of spontaneous eruption and orthodontic extrusion

    Directory of Open Access Journals (Sweden)

    D Das

    2012-01-01

    Full Text Available Maxillary permanent incisors impaction is not a frequent case in dental practice, but its treatment is challenging because of its importance to facial esthetics. Supernumerary teeth are the main cause of impaction of upper incisors. Supernumerary teeth when present can cause both esthetic and pathologic problems. Early detection of such teeth is most important if complications are to be avoided. In this reported case, the orthopantamogram of a 9-year-old boy revealed two impacted supernumerary teeth in the maxillary anterior region, which was interfering with the eruption of the permanent central incisors. The impacted supernumerary teeth were surgically removed, 11 was repositioned in the arch as it was situated very high in the arch, close to the nasal floor. Twenty-one erupted spontaneously but orthodontic force was applied over 11 to bring it into the occlusion and alignment was achieved with 0.014 mm NiTi wire.

  14. Surgical management of impacted incisors in associate with supernumerary teeth: a combine case report of spontaneous eruption and orthodontic extrusion.

    Science.gov (United States)

    Das, D; Misra, J

    2012-01-01

    Maxillary permanent incisors impaction is not a frequent case in dental practice, but its treatment is challenging because of its importance to facial esthetics. Supernumerary teeth are the main cause of impaction of upper incisors. Supernumerary teeth when present can cause both esthetic and pathologic problems. Early detection of such teeth is most important if complications are to be avoided. In this reported case, the orthopantamogram of a 9-year-old boy revealed two impacted supernumerary teeth in the maxillary anterior region, which was interfering with the eruption of the permanent central incisors. The impacted supernumerary teeth were surgically removed, 11 was repositioned in the arch as it was situated very high in the arch, close to the nasal floor. Twenty-one erupted spontaneously but orthodontic force was applied over 11 to bring it into the occlusion and alignment was achieved with 0.014 mm NiTi wire.

  15. KCC2 rescues functional deficits in human neurons derived from patients with Rett syndrome.

    Science.gov (United States)

    Tang, Xin; Kim, Julie; Zhou, Li; Wengert, Eric; Zhang, Lei; Wu, Zheng; Carromeu, Cassiano; Muotri, Alysson R; Marchetto, Maria C N; Gage, Fred H; Chen, Gong

    2016-01-19

    Rett syndrome is a severe form of autism spectrum disorder, mainly caused by mutations of a single gene methyl CpG binding protein 2 (MeCP2) on the X chromosome. Patients with Rett syndrome exhibit a period of normal development followed by regression of brain function and the emergence of autistic behaviors. However, the mechanism behind the delayed onset of symptoms is largely unknown. Here we demonstrate that neuron-specific K(+)-Cl(-) cotransporter2 (KCC2) is a critical downstream gene target of MeCP2. We found that human neurons differentiated from induced pluripotent stem cells from patients with Rett syndrome showed a significant deficit in KCC2 expression and consequently a delayed GABA functional switch from excitation to inhibition. Interestingly, overexpression of KCC2 in MeCP2-deficient neurons rescued GABA functional deficits, suggesting an important role of KCC2 in Rett syndrome. We further identified that RE1-silencing transcriptional factor, REST, a neuronal gene repressor, mediates the MeCP2 regulation of KCC2. Because KCC2 is a slow onset molecule with expression level reaching maximum later in development, the functional deficit of KCC2 may offer an explanation for the delayed onset of Rett symptoms. Our studies suggest that restoring KCC2 function in Rett neurons may lead to a potential treatment for Rett syndrome.

  16. Synthesis of N-(6-(4-(Piperazin-1-ylphenoxypyridin-3-ylbenzenesulfonamide Derivatives for the Treatment of Metabolic Syndrome

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    Nabajyoti Deka

    2013-01-01

    Full Text Available Metabolic syndrome is a widely prevalent multifactorial disorder associated with an increased risk of cardiovascular disease and type 2 diabetes mellitus. High plasma levels of insulin and glucose due to insulin resistance are a major component of the metabolic disorder. Thiazolidinediones (TZDs are potent PPARγ ligand and used as insulin sensitizers in the treatment of type 2 diabetes mellitus. They are potent insulin-sensitizing agents but due to adverse effects like hepatotoxicity, a safer alternative of TZDs is highly demanded. Here we report synthesis of N-(6-(4-(piperazin-1-ylphenoxypyridin-3-ylbenzenesulfonamide derivatives as an alternate remedy for insulin resistance.

  17. Platelet-Rich Fibrin with Bone Grafts for Regeneration of Bony Defect following Extraction of Supernumerary Teeth: A Case Report.

    Science.gov (United States)

    Chandrasekaran, Balamanikandasrinivasan; Suresh, Nanditha; Muthusamy, Senthilkumar

    Supernumerary teeth are hyperdontic variants due to abnormalities during tooth development. Here, we report a case on regeneration of bony defect, which ensued following extraction of two supernumerary teeth in the mandibular premolar region, using a combination of bone grafts and platelet-rich fibrin. To the best of our knowledge, it is the first time synergistic use of biomaterials with bone grafts have been used for this type of management.

  18. Neutrophil-derived microparticles are released into the coronary circulation following percutaneous coronary intervention in acute coronary syndrome patients.

    Science.gov (United States)

    Martínez, Gonzalo J; Barraclough, Jennifer Y; Nakhla, Shirley; Kienzle, Vivian; Robertson, Stacy; Mallat, Ziad; Celermajer, David S; Patel, Sanjay

    2017-02-28

    To evaluate (i) local coronary and systemic levels of microparticles (MP) in acute coronary syndrome (ACS) and stable angina pectoris (SAP) patients and (ii) their release after plaque disruption with percutaneous coronary intervention (PCI). MP are small vesicles originating from plasma membranes of cells after activation or apoptosis and are implicated in the pathogenesis of atherosclerosis. Neutrophils play a role in plaque destabilization and shed neutrophil-derived MP that have the potential to drive significant proinflammatory and thrombotic downstream effects. Eight ACS and eight SAP patients were included. Coronary sinus (CS) samples pre-intervention (CS1), 45 s following balloon angioplasty (CS2) and at 45 s intervals following stent deployment (CS3, CS4 and CS5), together with peripheral vein samples, pre- and post-PCI were analysed for neutrophil-derived (CD66b+), endothelial-derived (CD144+), platelet-derived (CD41a+), monocyte-derived (CD14+) and apoptotic (Annexin V+) MP. ELISA for interleukin (IL)-6, myeloperoxidase (MPO) and P-selectin was also performed. CD66b+ MP levels were similar in both groups pre-intervention. Post-PCI, CS levels rose significantly in ACS but not SAP patients (ACS area under the curve (AUC): 549 ± 83, SAP AUC: 24 ± 29, Pderived MP release post-PCI occurs in ACS compared with stable patients, likely to be reflective of plaque MP content in vulnerable lesions. © 2017 The Author(s).

  19. Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region.

    Science.gov (United States)

    McDermid, H E; McTaggart, K E; Riazi, M A; Hudson, T J; Budarf, M L; Emanuel, B S; Bell, C J

    1996-12-01

    Cat eye syndrome (CES) is typically associated with a supernumerary bisatellited marker chromosome derived from human chromosome 22pter to 22q11.2. The region of 22q duplicated in the typical CES marker chromosome extends between the centromere and locus D22S36. We have constructed a long-range restriction map of this region using pulsed-field gel electrophoresis and probes to 10 loci (11 probes). The map covers -3.6 Mb. We have also used 15 loci to construct a yeast artificial chromosome contig, which encompasses about half of the region critical to the production of the CES phenotype (centromere to D22S57). Thus, the CES critical region has been mapped and a substantial portion of it cloned in preparation for the isolation of genes in this region.

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

    Science.gov (United States)

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

    2016-08-03

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

  1. Neural activity in relation to clinically derived personality syndromes in depression using a psychodynamic fMRI paradigm

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    Svenja eTaubner

    2013-12-01

    Full Text Available Objective: The heterogeneity between patients with depression cannot be captured adequately with existing descriptive systems of diagnosis and neurobiological models of depression. Furthermore, considering the highly individual nature of depression, the application of general stimuli in past research efforts may not capture the essence of the disorder. This study aims to identify subtypes of depression by using empirically-derived personality-syndromes, and to explore neural correlates of the derived personality syndromes.Method: In the present exploratory study an individually tailored and psychodynamically based fMRI paradigm using dysfunctional relationship patterns was presented to 20 chronically depressed patients. Results from the Shedler-Westen-Assessment-Procedure (SWAP-200 were analyzed by Q-factor analysis to identify clinically relevant subgroups of depression and related brain activation.Results: The principle component analysis of SWAP-200 items from all 20 patients lead to a 2-factor solution: Depressive Personality and Emotional-Hostile-Externalizing Personality. Both factors were used in a whole-brain correlational analysis but only the second factor yielded significant positive correlations in four regions: A large cluster in the right orbitofrontal cortex (OFC, the left ventral striatum, a small cluster in the left temporal pole and another small cluster in the right middle frontal gyrus. Discussion: The degree to which patients with depression score high on the factor Emotional-Hostile-Externalizing Personality correlated with relatively higher activity in three key areas involved in emotion processing, evaluation of reward/punishment, negative cognitions, depressive pathology and social knowledge (OFC, ventral striatum, temporal pole. Results may contribute to an alternative description of neural correlates of depression showing differential brain activation dependent on the extent of specific personality syndromes in

  2. Phantom Sensations, Supernumerary Phantom Limbs and Apotemnophilia: Three Body Representation Disorders.

    Science.gov (United States)

    Tatu, Laurent; Bogousslavsky, Julien

    2018-01-01

    Body representation disorders continue to be mysterious and involve the anatomical substrate that underlies the mental representation of the body. These disorders sit on the boundaries of neurological and psychiatric diseases. We present the main characteristics of 3 examples of body representation disorders: phantom sensations, supernumerary phantom limb, and apotemnophilia. The dysfunction of anatomical circuits that regulate body representation can sometimes have paradoxical features. In the case of phantom sensations, the patient feels the painful subjective sensation of the existence of the lost part of the body after amputation, surgery or trauma. In case of apotemnophilia, now named body integrity identity disorder, the subject wishes for the disappearance of the existing and normal limb, which can occasionally lead to self-amputation. More rarely, a brain-damaged patient with 4 existing limbs can report the existence of a supernumerary phantom limb. © 2018 S. Karger AG, Basel.

  3. A Case of Successful Retreatment of a Maxillary Lateral Incisor with a Supernumerary Root

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    Mohsen Aminsobhani

    2016-03-01

    Full Text Available Knowledge about the morphology of the root canal system is a pre-requisite for achieving a successful outcome in root canal treatment. In this report, a patient with a maxillary lateral incisor which had previously undergone orthograde endodontic retreatment for two times is discussed. The tooth had been misdiagnosed with a palatal groove or a root fracture, its prognosis had been determined to be poor and extraction was advised by a practitioner. During our evaluation, an unrecognized supernumerary root and root canal were detected and the tooth was maintained successfully with orthograde endodontic retreatment. The use of cone beam computed tomography (CBCT and magnification were of significance in the treatment process of this case.Key words: Tooth, Supernumerary; Incisor; Maxilla; Root Canal Therapy

  4. Multidisciplinary management of multiple maxillary anterior supernumerary teeth: a case report.

    Science.gov (United States)

    Kulkarni, Vinaya Kumar; Reddy, Sampath; Duddu, Mahesh; Reddy, Deepti

    2010-03-01

    Supernumerary teeth are a relatively frequent disorder of odontogenesis. They may occur alone or in multiple; be unilateral or bilateral; and appear in the maxilla, mandible, or both. Mesiodens is a supernumerary tooth in the anterior maxilla between the two central incisors. This case report describes the treatment of maxillary central incisors displaced and impacted because of the presence of four mesiodens in a 12-year-old boy. After clinical and radiographic examination, surgical removal of the mesiodens and exposure of the maxillary right central incisor was performed. This resulted in a 14-mm space between the displaced central incisors. Successively, fixed orthodontic treatment was planned with cephalometric analysis. The central incisors were brought to the occlusal plane and aligned, and the space between the incisors was redistributed. Remaining minor spaces between the incisors were closed with composite resin buildup.

  5. Primary Malignancy in a Supernumerary Testicle Presenting as a Large Pelvic Mass

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    Justin Noroozian

    2017-01-01

    Full Text Available Supernumerary testis, also known as polyorchidism, is a condition characterized by the presence of more than two testes. Another condition of the testes is seminoma, a common cause of testicular germ cell tumor. A 35-year-old male was transferred to our hospital with a diagnosis of abdominal mass causing abdominal pain. On physical exam, he had a palpable undescended left testicle in the left inguinal canal, which was determined to be seminoma. The mass was surgically removed, and the patient underwent chemotherapy. The report discusses his workup, treatment, and outcome. This case illustrates an unusual presentation of supernumerary testis with the extra testis harboring a seminoma. When presented with a case of testicular cancer with no tumor noted in the palpable testes, malignancy in an extranumerary testicle should be considered in the differential.

  6. Regional odontodysplasia with supernumerary teeth in pediatric patients: Coincident/new finding?

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    Vela D Desai

    2015-01-01

    Full Text Available Regional odontodysplasia is a rare developmental dental anomaly affecting both primary and permanent dentition in any of the jaws with uncertain etiology. Clinically, affected tooth are impacted and if erupted are hypoplastic or hypocalcified. Radiographically, the affected teeth show a typical "ghost-like" appearance. In this article, two such case reports are presented by the authors associated with supernumerary teeth in the same region.

  7. Bilateral fusion of mandibular second molars with supernumerary teeth: case report

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    Nunes Eduardo

    2002-01-01

    Full Text Available Fusion is a developmental anomaly characterized by the union of two adjacent teeth. In this article we report a rare case of bilateral fusion of permanent mandibular second molars with supernumerary teeth. The rarity with which this entity appears, along with its complex characteristics, often make it difficult to treat. The endodontic management of one tooth is described, as well as the successful treatment of a periradicular lesion.

  8. Impacted Supernumerary Teeth–Early or Delayed Intervention: Decision Making Dilemma?

    OpenAIRE

    Gupta, Seema; Marwah, Nikhil

    2012-01-01

    Abstract Supernumerary teeth are considered to be one of the most significant dental anomalies affecting the primary and early mixed dentition and may cause a variety of pathological disturbances to the developing permanent dentition. Early diagnosis and prompt treatment is necessary for prevention of deleterious effects on dentoalveolar structures. However, the time of intervention is the most crucial factor governing the outcome of surgical management of hyperdontia. The aim of this case re...

  9. Primary Malignancy in a Supernumerary Testicle Presenting as a Large Pelvic Mass

    OpenAIRE

    Noroozian, Justin; Farishta, Daniel; Ballow, Daniel; Sonstein, Joseph; Orihuela, Eduardo; Eyzaguirre, Eduardo

    2017-01-01

    Supernumerary testis, also known as polyorchidism, is a condition characterized by the presence of more than two testes. Another condition of the testes is seminoma, a common cause of testicular germ cell tumor. A 35-year-old male was transferred to our hospital with a diagnosis of abdominal mass causing abdominal pain. On physical exam, he had a palpable undescended left testicle in the left inguinal canal, which was determined to be seminoma. The mass was surgically removed, and the patient...

  10. A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.

    Science.gov (United States)

    Kalkan, Rasime; Özdağ, Nermin; Bundak, Rüveyde; Çirakoğlu, Ayşe; Serakinci, Nedime

    2016-01-01

    Patients with Turner syndrome are generally characterized by having short stature with no secondary sexual characteristics. Some abnormalities, such as webbed neck, renal malformations (>50%) and cardiac defects (10%) are less common. The intelligence of these patients is considered normal. Non-mosaic monosomy X is observed in approximately 45% of postnatal patients with Turner syndrome and the rest of the patients have structural abnormalities or mosaicism involving 46,X,i(Xq), 45,X/46,XX, 45,X and other variants. The phenotype of 45,X/46,X,+mar individuals varies by the genetic continent and degree of the mosaicism. The gene content of the marker chromosome is the most important when correlating the phenotype with the genotype. Here we present an 11-year-old female who was referred for evaluation of her short stature and learning disabilities. Conventional cytogenetic investigation showed a mosaic 45,X/46,X,+mar karyotype. Fluorescence in situ hybridization showed that the marker chromosome originated from the X chromosome within the androgen receptor (AR) and X-inactive specific transcript (XIST) genes. Therefore, it is possible that aberrant activation of the marker chromosome, compromising the AR and XIST genes, may modify the Turner syndrome phenotype.

  11. Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome.

    Science.gov (United States)

    Tupler, R; Hoeller, A; Pezzolo, A; Maraschio, P

    1994-01-01

    Cytogenetic analysis in a male child with dismorphies and renal anomalies showed an extra bisatellited chromosome. In situ hybridization and an analysis of cytogenetic polymorphisms revealed that the abnormal chromosome derived from a single maternal chromosome 22.

  12. Neuronal target genes of the neuron-restrictive silencer factor in neurospheres derived from fetuses with Down's syndrome: a gene expression study.

    Science.gov (United States)

    Bahn, Sabine; Mimmack, Michael; Ryan, Margaret; Caldwell, Maeve A; Jauniaux, Eric; Starkey, Michael; Svendsen, Clive N; Emson, Piers

    2002-01-26

    Identification of genes and characterisation of their function is an essential step towards understanding complex pathophysiological abnormalities in Down's syndrome. We did a study to investigate abnormalities in gene expression in human neuronal stem cells and progenitor cells from Down's syndrome and control post-mortem human fetal tissue. Indexing-based differential display PCR was done on neuronal precursor cells derived from the cortex of a fetus with Down's syndrome, and findings were compared with those of two control samples. Findings were validated against neurosphere preparations from three independent Down's syndrome fetuses and five independent controls by real-time quantitative PCR. Results of differential display PCR analysis showed that SCG10--a neuron--specific growth-associated protein regulated by the neuron-restrictive silencer factor REST-was almost undetectable in the Down's syndrome sample. This finding was validated by real-time PCR. We also found that other genes regulated by the REST transcription factor were selectively repressed, whereas non-REST-regulated genes with similar functions were unaffected. Changes in expression of several key developmental genes in the Down's syndrome stem-cell and progenitor-cell pool correlated with striking changes in neuron morphology after differentiation. Our findings suggest a link between dysregulation of the REST transcription factor and some of the neurological deficits seen in Down's syndrome. Experimental REST downregulation has been shown to trigger apoptosis, which could account for the striking and selective loss of neurons in the differentiated Down's syndrome cell preparations.

  13. Cat eye syndrome associated with aganglionosis of the small and large intestine.

    Science.gov (United States)

    Ward, J; Sierra, I A; D'Croz, E

    1989-01-01

    A newborn male infant is presented with the characteristic phenotype of the cat eye syndrome and a small supernumerary chromosome shorter than a 22. He also had complete absence of parasympathetic ganglion cells throughout the small and large intestine. Images PMID:2585462

  14. Prevalence of supernumerary teeth in permanent dentition among patients attending a dental college in South Kerala: A pilot study

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    Devi Gopakumar

    2014-01-01

    Full Text Available Background: Supernumerary teeth are excess number of teeth formed as a result of disturbances occurring during odontogenesis. The objective of the study was to investigate the prevalence of supernumerary teeth in permanent dentition among patients attending a dental college in South Kerala. Materials and Methods: In this study, 11,141 subjects attending the out-patient department of PMS College of Dental Science and Research, Thiruvananthapuram, Kerala were examined for supernumerary teeth like mesiodens, paramolars, distomolars, third premolars, second laterals, and odontomes during the period May 2012-May 2013. Ethical clearance was obtained from the institutional ethical committee for the study. Results: The study showed a prevalence of 0.39% and a sex distribution of M:F equal to 2:1. The incidence of supernumerary teeth found was as follows: mesiodens (0.14%, paramolars (0.13%, third premolar (0.04%, distomolar (0.03%, extralateral (0.02%, and odontome (0.03%. The male:female gender predilection was as follows: mesiodens (3:1, paramolars (1.3:1, third premolar (4:1, distomolar (1:2, and odontome (2:1. Conclusion: This study showed a 0.39% prevalence of supernumerary teeth in this population.

  15. Chromosome 21-derived microRNAs provide an etiological basis for aberrant protein expression in human Down syndrome brains.

    Science.gov (United States)

    Kuhn, Donald E; Nuovo, Gerard J; Terry, Alvin V; Martin, Mickey M; Malana, Geraldine E; Sansom, Sarah E; Pleister, Adam P; Beck, Wayne D; Head, Elizabeth; Feldman, David S; Elton, Terry S

    2010-01-08

    Down syndrome (DS), or Trisomy 21, is the most common genetic cause of cognitive impairment and congenital heart defects in the human population. Bioinformatic annotation has established that human chromosome 21 (Hsa21) harbors five microRNA (miRNAs) genes: miR-99a, let-7c, miR-125b-2, miR-155, and miR-802. Our laboratory recently demonstrated that Hsa21-derived miRNAs are overexpressed in DS brain and heart specimens. The aim of this study was to identify important Hsa21-derived miRNA/mRNA target pairs that may play a role, in part, in mediating the DS phenotype. We demonstrate by luciferase/target mRNA 3'-untranslated region reporter assays, and gain- and loss-of-function experiments that miR-155 and -802 can regulate the expression of the predicted mRNA target, the methyl-CpG-binding protein (MeCP2). We also demonstrate that MeCP2 is underexpressed in DS brain specimens isolated from either humans or mice. We further demonstrate that, as a consequence of attenuated MeCP2 expression, transcriptionally activated and silenced MeCP2 target genes, CREB1/Creb1 and MEF2C/Mef2c, are also aberrantly expressed in these DS brain specimens. Finally, in vivo silencing of endogenous miR-155 or -802, by antagomir intra-ventricular injection, resulted in the normalization of MeCP2 and MeCP2 target gene expression. Taken together, these results suggest that improper repression of MeCP2, secondary to trisomic overexpression of Hsa21-derived miRNAs, may contribute, in part, to the abnormalities in the neurochemistry observed in the brains of DS individuals. Finally these results suggest that selective inactivation of Hsa21-derived miRNAs may provide a novel therapeutic tool in the treatment of DS.

  16. A Transcriptional Signature of Fatigue Derived from Patients with Primary Sjögren's Syndrome.

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    Katherine James

    Full Text Available Fatigue is a debilitating condition with a significant impact on patients' quality of life. Fatigue is frequently reported by patients suffering from primary Sjögren's Syndrome (pSS, a chronic autoimmune condition characterised by dryness of the eyes and the mouth. However, although fatigue is common in pSS, it does not manifest in all sufferers, providing an excellent model with which to explore the potential underpinning biological mechanisms.Whole blood samples from 133 fully-phenotyped pSS patients stratified for the presence of fatigue, collected by the UK primary Sjögren's Syndrome Registry, were used for whole genome microarray. The resulting data were analysed both on a gene by gene basis and using pre-defined groups of genes. Finally, gene set enrichment analysis (GSEA was used as a feature selection technique for input into a support vector machine (SVM classifier. Classification was assessed using area under curve (AUC of receiver operator characteristic and standard error of Wilcoxon statistic, SE(W.Although no genes were individually found to be associated with fatigue, 19 metabolic pathways were enriched in the high fatigue patient group using GSEA. Analysis revealed that these enrichments arose from the presence of a subset of 55 genes. A radial kernel SVM classifier with this subset of genes as input displayed significantly improved performance over classifiers using all pathway genes as input. The classifiers had AUCs of 0.866 (SE(W 0.002 and 0.525 (SE(W 0.006, respectively.Systematic analysis of gene expression data from pSS patients discordant for fatigue identified 55 genes which are predictive of fatigue level using SVM classification. This list represents the first step in understanding the underlying pathophysiological mechanisms of fatigue in patients with pSS.

  17. A Transcriptional Signature of Fatigue Derived from Patients with Primary Sjögren’s Syndrome

    Science.gov (United States)

    James, Katherine; Al-Ali, Shereen; Tarn, Jessica; Cockell, Simon J.; Gillespie, Colin S.; Hindmarsh, Victoria; Locke, James; Mitchell, Sheryl; Lendrem, Dennis; Bowman, Simon; Price, Elizabeth; Pease, Colin T.; Emery, Paul; Lanyon, Peter; Hunter, John A.; Gupta, Monica; Bombardieri, Michele; Sutcliffe, Nurhan; Pitzalis, Costantino; McLaren, John; Cooper, Annie; Regan, Marian; Giles, Ian; Isenberg, David; Saravanan, Vadivelu; Coady, David; Dasgupta, Bhaskar; McHugh, Neil; Young-Min, Steven; Moots, Robert; Gendi, Nagui; Akil, Mohammed; Griffiths, Bridget; Wipat, Anil; Newton, Julia; Jones, David E.; Isaacs, John; Hallinan, Jennifer; Ng, Wan-Fai

    2015-01-01

    Background Fatigue is a debilitating condition with a significant impact on patients’ quality of life. Fatigue is frequently reported by patients suffering from primary Sjögren’s Syndrome (pSS), a chronic autoimmune condition characterised by dryness of the eyes and the mouth. However, although fatigue is common in pSS, it does not manifest in all sufferers, providing an excellent model with which to explore the potential underpinning biological mechanisms. Methods Whole blood samples from 133 fully-phenotyped pSS patients stratified for the presence of fatigue, collected by the UK primary Sjögren’s Syndrome Registry, were used for whole genome microarray. The resulting data were analysed both on a gene by gene basis and using pre-defined groups of genes. Finally, gene set enrichment analysis (GSEA) was used as a feature selection technique for input into a support vector machine (SVM) classifier. Classification was assessed using area under curve (AUC) of receiver operator characteristic and standard error of Wilcoxon statistic, SE(W). Results Although no genes were individually found to be associated with fatigue, 19 metabolic pathways were enriched in the high fatigue patient group using GSEA. Analysis revealed that these enrichments arose from the presence of a subset of 55 genes. A radial kernel SVM classifier with this subset of genes as input displayed significantly improved performance over classifiers using all pathway genes as input. The classifiers had AUCs of 0.866 (SE(W) 0.002) and 0.525 (SE(W) 0.006), respectively. Conclusions Systematic analysis of gene expression data from pSS patients discordant for fatigue identified 55 genes which are predictive of fatigue level using SVM classification. This list represents the first step in understanding the underlying pathophysiological mechanisms of fatigue in patients with pSS. PMID:26694930

  18. Different response to hypoxia of adipose-derived multipotent cells from obese subjects with and without metabolic syndrome.

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    Wilfredo Oliva-Olivera

    Full Text Available Multiple studies suggest that hypoxia, together with inflammation, could be one of the phenomena involved in the onset and progression of obesity-related insulin resistance. In addition, dysfunction of adipose tissue in obese subjects with metabolic syndrome is associated with decreased angiogenesis. However, some subjects with a high body mass index do not develop metabolic abnormalities associated with obesity. The aim of the current study was to examine the neovascular properties of visceral adipose tissue-derived multipotent mesenchymal cells subjected to hypoxia (hypox-visASCs from normal-weight subjects (Nw and obese patients with metabolic syndrome (MS and without metabolic syndrome (NonMS.This was a 2-year study to enroll subjects who underwent bariatric surgery or cholecystectomy. Eight patients who underwent either bariatric surgery or cholecystectomy (27 patients participated in the study. Visceral adipose tissue samples from Nw, MS and NonMS subjects were processed by enzymatic digestion. VisASCs cultured under hypoxic conditions were characterized by tubule formation assay, ELISA, flow cytometry, migration rate, and qRT-PCR, and the effects of visASCs-conditioned medium on survival and endothelial cell tubule formation were evaluated.Hypox-visASCs from NonMS subjects showed a greater capacity for tubule formation than hypox-visASCs from Nw and MS subjects. The lower percentage of CD140b+/CD44+ and CD140b+/CD184+ cells observed in hypox-visASCs from NonMS subjects compared to MS subjects was accompanied not only by a lower migration rate from the chemotactic effects of stromal cell derived factor 1α, but also by lower levels of NOX5 mRNA expression. While the levels of monocyte chemoattractant protein 1 mRNA expressed by hypox-visASCs correlated positively with the body mass index and waist circumference of the subjects, the concentration of vascular endothelial growth factor present in hypox-visASC-conditioned culture medium

  19. Different response to hypoxia of adipose-derived multipotent cells from obese subjects with and without metabolic syndrome

    Science.gov (United States)

    Moreno-Indias, Isabel; Coín-Aragüez, Leticia; Lhamyani, Said; Alcaide Torres, Juan; Fernández-Veledo, Sonia; Vendrell, Joan; Camargo, Antonio; El Bekay, Rajaa; Tinahones, Francisco José

    2017-01-01

    Background/Objectives Multiple studies suggest that hypoxia, together with inflammation, could be one of the phenomena involved in the onset and progression of obesity-related insulin resistance. In addition, dysfunction of adipose tissue in obese subjects with metabolic syndrome is associated with decreased angiogenesis. However, some subjects with a high body mass index do not develop metabolic abnormalities associated with obesity. The aim of the current study was to examine the neovascular properties of visceral adipose tissue-derived multipotent mesenchymal cells subjected to hypoxia (hypox-visASCs) from normal-weight subjects (Nw) and obese patients with metabolic syndrome (MS) and without metabolic syndrome (NonMS). Methods This was a 2-year study to enroll subjects who underwent bariatric surgery or cholecystectomy. Eight patients who underwent either bariatric surgery or cholecystectomy (27 patients) participated in the study. Visceral adipose tissue samples from Nw, MS and NonMS subjects were processed by enzymatic digestion. VisASCs cultured under hypoxic conditions were characterized by tubule formation assay, ELISA, flow cytometry, migration rate, and qRT-PCR, and the effects of visASCs-conditioned medium on survival and endothelial cell tubule formation were evaluated. Results Hypox-visASCs from NonMS subjects showed a greater capacity for tubule formation than hypox-visASCs from Nw and MS subjects. The lower percentage of CD140b+/CD44+ and CD140b+/CD184+ cells observed in hypox-visASCs from NonMS subjects compared to MS subjects was accompanied not only by a lower migration rate from the chemotactic effects of stromal cell derived factor 1α, but also by lower levels of NOX5 mRNA expression. While the levels of monocyte chemoattractant protein 1 mRNA expressed by hypox-visASCs correlated positively with the body mass index and waist circumference of the subjects, the concentration of vascular endothelial growth factor present in hypox

  20. Design, Synthesis, and Biological Evaluation of an Allosteric Inhibitor of HSET that Targets Cancer Cells with Supernumerary Centrosomes

    Science.gov (United States)

    Watts, Ciorsdaidh A.; Richards, Frances M.; Bender, Andreas; Bond, Peter J.; Korb, Oliver; Kern, Oliver; Riddick, Michelle; Owen, Paul; Myers, Rebecca M.; Raff, Jordan; Gergely, Fanni; Jodrell, Duncan I.; Ley, Steven V.

    2013-01-01

    Summary Centrosomes associate with spindle poles; thus, the presence of two centrosomes promotes bipolar spindle assembly in normal cells. Cancer cells often contain supernumerary centrosomes, and to avoid multipolar mitosis and cell death, these are clustered into two poles by the microtubule motor protein HSET. We report the discovery of an allosteric inhibitor of HSET, CW069, which we designed using a methodology on an interface of chemistry and biology. Using this approach, we explored millions of compounds in silico and utilized convergent syntheses. Only compound CW069 showed marked activity against HSET in vitro. The inhibitor induced multipolar mitoses only in cells containing supernumerary centrosomes. CW069 therefore constitutes a valuable tool for probing HSET function and, by reducing the growth of cells containing supernumerary centrosomes, paves the way for new cancer therapeutics. PMID:24210220

  1. Alveolar-derived exhaled nitric oxide is reduced in obstructive sleep apnea syndrome.

    Science.gov (United States)

    Foresi, Antonio; Leone, Clementina; Olivieri, Dario; Cremona, George

    2007-09-01

    Obstructive sleep apnea syndrome (OSAS) is associated with cardiovascular diseases, in particular systemic arterial hypertension. We postulated that intermittent nocturnal hypoxia in OSAS may be associated to decreased fractional exhaled nitric oxide (FENO) levels from distal airspaces. Multiple flow rate measurements have been used to fractionate nitric oxide (NO) from alveolar and bronchial sources in 34 patients with OSAS, in 29 healthy control subjects, and in 8 hypertensive non-OSAS patients. The effect of 2 days of treatment with nasal continuous positive airway pressure (nCPAP) on FENO was examined in 18 patients with severe OSAS. We found that the mean [+/- SE] concentrations of exhaled NO at a rate of 50 mL/s was 21.8 +/- 1.9 parts per billion (ppb) in patients with OSAS, 25.1 +/- 3.3 ppb in healthy control subjects, and 15.4 +/- 1.7 ppb in hypertensive control patients. The mean fractional alveolar NO concentration (CANO) in OSAS patients was significantly lower than that in control subjects (2.96 +/- 0.48 vs 5.35 +/- 0.83 ppb, respectively; p bronchial FENO, is impaired in patients with OSAS and that this impairment is associated with an increased risk of hypertension. NO production within the alveolar space is modified by treatment with nCPAP.

  2. The concept of cycloid psychosis: sensitivity and specificity of syndromes derived by multivariate clustering techniques.

    Science.gov (United States)

    Jönsson, S A; Jonsson, H; Nyman, A K; Nyman, G E

    1991-05-01

    A total of 154 patients admitted for the first time to hospital for a psychotic or affective disorder in 1925 were rediagnosed in accordance with DSM-III and Leonhard's diagnostic system. Symptoms were rated in accordance with a rating protocol containing 33 items based on Leonhard's descriptions of cycloid psychoses. The patients were followed up through parish registers and hospital records. Of 42 cases considered to be cycloid psychosis at index admission, 34 were prognostically verified. The symptom ratings of the 154 patients were analysed by K-means cluster analysis to test whether the patients with cycloid psychoses would separate from the rest of the material. With a 2-cluster solution, 30 of 34 cases (88%) were contained in the same cluster. The sensitivity of the ratings was therefore judged to be acceptable. Specificity was low, however, since 19 cases in the cluster were differently diagnosed. A subcohort of 64 patients, satisfying at least 5 items of the rating protocol, was then analysed by Q-factor analysis to test whether nuclear cases of cycloid psychosis differ from symptomatically related syndromes. No such differences could be statistically verified; no symptom profile specifically indicating cycloid psychosis could be found. Prominent confusion symptoms appear, however, to be prognostically favourable, whereas motility symptoms without confusion seem to indicate an unfavourable course.

  3. A Case of Congenital Supernumerary Teeth in an Ovine Dental Pad.

    Science.gov (United States)

    Corbera, Juan Alberto; Morales, Immaculada; Martin, Sergio; Arencibia, Alberto; Gutierrez, Carlos

    2017-12-01

    A rare case of congenital supernumerary teeth, also known as hyperdontia, observed in a healthy 8-month-old female ewe is presented. The congenital defect consisted of the presence of 2 incisor teeth embedded in the lateral areas of the dental pad. The anomaly was found during a routine physical examination and no other congenital abnormalities were found in the patient. No prior congenital abnormalities had been seen in the herd and the study of possible associated teratogenic factors was inconclusive. To the authors' knowledge, this ovine odontogenic abnormality has not been described in the literature and appears to be an extraordinarily rare condition.

  4. An EMG Interface for the Control of Motion and Compliance of a Supernumerary Robotic Finger

    Science.gov (United States)

    Hussain, Irfan; Spagnoletti, Giovanni; Salvietti, Gionata; Prattichizzo, Domenico

    2016-01-01

    In this paper, we propose a novel electromyographic (EMG) control interface to control motion and joints compliance of a supernumerary robotic finger. The supernumerary robotic fingers are a recently introduced class of wearable robotics that provides users additional robotic limbs in order to compensate or augment the existing abilities of natural limbs without substituting them. Since supernumerary robotic fingers are supposed to closely interact and perform actions in synergy with the human limbs, the control principles of extra finger should have similar behavior as human’s ones including the ability of regulating the compliance. So that, it is important to propose a control interface and to consider the actuators and sensing capabilities of the robotic extra finger compatible to implement stiffness regulation control techniques. We propose EMG interface and a control approach to regulate the compliance of the device through servo actuators. In particular, we use a commercial EMG armband for gesture recognition to be associated with the motion control of the robotic device and surface one channel EMG electrodes interface to regulate the compliance of the robotic device. We also present an updated version of a robotic extra finger where the adduction/abduction motion is realized through ball bearing and spur gears mechanism. We have validated the proposed interface with two sets of experiments related to compensation and augmentation. In the first set of experiments, different bimanual tasks have been performed with the help of the robotic device and simulating a paretic hand since this novel wearable system can be used to compensate the missing grasping abilities in chronic stroke patients. In the second set, the robotic extra finger is used to enlarge the workspace and manipulation capability of healthy hands. In both sets, the same EMG control interface has been used. The obtained results demonstrate that the proposed control interface is intuitive and can

  5. A comparison between various radiological techniques in the localization and analysis of impacted and supernumerary teeth.

    Science.gov (United States)

    Ziegler, Christoph M; Klimowicz, Thomas R

    2013-01-01

    An increasing number of different types of commercial cone-beam computed tomography (CBCT) devices are available for three-dimensional (3D) imaging in the field of dental and maxillofacial radiology. When removing impacted or supernumerary teeth, surgical teams often operate adjacent significant anatomical structures such as nerves, vessels, adjacent teeth roots, and paranasal sinuses. It is therefore important to choose the appropriate surgical approach to avoid iatrogenic damage to the essential anatomical neighbouring structures. CBCT, also called digital volume tomography (DVT), can visualize impacted and supernumerary teeth in all standard planes, as well as multisectional 3D views. These devices have shown to be highly beneficial in the assessment of small bony lesions and maxillofacial injuries. However, it is still necessary to determine the effectiveness of such devices in the assessment of impacted and supernumerary teeth, in comparison to the conventional radiological methods of intraoral X-rays and panoramic X-rays. During a period of 2 years, a total of 61 patients of whom majority had impacted teeth or supernumerary elements in the frontal maxillary region were studied with CBCT and treated at the St. Olavs University Hospital. Patients were referred to our Department of Oral and Maxillofacial Surgery with both conventional and digital intraoral X-rays and/or panoramic X-rays. None had any acute infections or odontogenic abscesses, and most presented with asymptomatic impacted tooth. A comparison between the preoperative conventional and the CBCT images, the resulting diagnoses, and the intraoperative findings as "gold standard" were made and recorded in a compiled scoring sheet. The objects of interest were researched with the magnification method. Each patient was identified only with a patient number. In contrast to the conventional X-rays, the pre-surgical evaluation with the CBCT revealed detailed imaging of significant anatomical structures and

  6. A comparison between various radiological techniques in the localization and analysis of impacted and supernumerary teeth

    Directory of Open Access Journals (Sweden)

    Christoph M Ziegler

    2013-01-01

    Full Text Available Background and Objectives: An increasing number of different types of commercial cone-beam computed tomography (CBCT devices are available for three-dimensional (3D imaging in the field of dental and maxillofacial radiology. When removing impacted or supernumerary teeth, surgical teams often operate adjacent significant anatomical structures such as nerves, vessels, adjacent teeth roots, and paranasal sinuses. It is therefore important to choose the appropriate surgical approach to avoid iatrogenic damage to the essential anatomical neighbouring structures. CBCT, also called digital volume tomography (DVT, can visualize impacted and supernumerary teeth in all standard planes, as well as multisectional 3D views. These devices have shown to be highly beneficial in the assessment of small bony lesions and maxillofacial injuries. However, it is still necessary to determine the effectiveness of such devices in the assessment of impacted and supernumerary teeth, in comparison to the conventional radiological methods of intraoral X-rays and panoramic X-rays. Materials and Methods: During a period of 2 years, a total of 61 patients of whom majority had impacted teeth or supernumerary elements in the frontal maxillary region were studied with CBCT and treated at the St. Olavs University Hospital. Patients were referred to our Department of Oral and Maxillofacial Surgery with both conventional and digital intraoral X-rays and/or panoramic X-rays. None had any acute infections or odontogenic abscesses, and most presented with asymptomatic impacted tooth. A comparison between the preoperative conventional and the CBCT images, the resulting diagnoses, and the intraoperative findings as "gold standard" were made and recorded in a compiled scoring sheet. The objects of interest were researched with the magnification method. Each patient was identified only with a patient number. Results: In contrast to the conventional X-rays, the pre-surgical evaluation with

  7. Double dens invaginatus in an impacted molariform supernumerary tooth: An unique case

    Directory of Open Access Journals (Sweden)

    Anegundi R

    2008-05-01

    Full Text Available Dens invaginatus is a relatively rare developmental anomaly affecting usually the permanent maxillary lateral incisor. Various factors have been put forward regarding its pathogenesis. Involvement of crown/root has been reported as the coronal and radicular variety of dens invaginatus. One of the rarest variant is the Double dens invaginatus and only a few cases have been reported in the literature.This article focuses on a case of double dens invaginatus in an impacted maxillary anterior supernumerary tooth, the associated complications and its management

  8. Double dens invaginatus in an impacted molariform supernumerary tooth: a unique case.

    Science.gov (United States)

    Anegundi, R T; Kaveri, H; Patil, Shruthi B; Punnya, A

    2008-01-01

    Dens invaginatus is a relatively rare developmental anomaly affecting usually the permanent maxillary lateral incisor. Various factors have been put forward regarding its pathogenesis. Involvement of crown/root has been reported as the coronal and radicular variety of dens invaginatus. One of the rarest variant is the Double dens invaginatus and only a few cases have been reported in the literature.This article focuses on a case of double dens invaginatus in an impacted maxillary anterior supernumerary tooth, the associated complications and its management.

  9. Electrocardiography-Derived Predictors for Therapeutic Response to Treatment in Children with Postural Tachycardia Syndrome.

    Science.gov (United States)

    Lu, Wenxin; Yan, Hui; Wu, Shu; Chen, Selena; Xu, Wenrui; Jin, Hongfang; Du, Junbao

    2016-09-01

    To explore whether electrocardiography (ECG) variables could be used to predict responses to physical treatment in children with postural tachycardia syndrome (POTS). Forty children with POTS and 32 healthy controls were enrolled in this study. General information and hemodynamic and supine ECG variables, including QT interval dispersion (QTd), were collected. The children with POTS received physical treatment and 3 months of follow-up. A receiver-operating characteristic curve was used to evaluate the value of ECG variables for predicting the effectiveness of physical treatment. Compared with the healthy children, the children with POTS had longer baseline QTd and heart rate (HR)-corrected QTd (QTcd), but shorter minimum QT intervals (QTmin) and minimum HR-corrected QT intervals (P < .05). In children with POTS, responders to physical treatment had a longer baseline time between QRS complexes (RR) interval of minimum QT interval and a longer QTcd compared with nonresponders. A longer QTcd was a significant risk factor for the presence of POTS (OR, 1.022; P = .02) and for undesirable responses to physical treatment in children with POTS (OR, 1.044; P = .03). Baseline QTcd was positively correlated with the HR elevation from supine to upright seen in children with POTS (r = 0.348; P = .003). Receiver operating characteristic curve analysis demonstrated an area under the curve of 0.73, and using 43.0 msec as a cutoff of QTcd yielded a sensitivity of 90% and a specificity of 60%. QTcd might be useful for predicting the effectiveness of physical treatment for POTS in children. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Donor-derived Strongyloides stercoralis hyperinfection syndrome after simultaneous kidney/pancreas transplantation

    Directory of Open Access Journals (Sweden)

    A. Galiano

    2016-10-01

    Full Text Available Most cases of strongyloidiasis associated with solid organ transplantation have been due to the reactivation of a latent infection in the recipient as a result of the immunosuppressive therapy; however, donor-derived infections are becoming increasingly frequent. The case of a patient who nearly died of a Strongyloides stercoralis hyperinfection after receiving simultaneous kidney/pancreas transplants is described herein. No specific parasitological tests were performed pre-transplantation, despite the fact that both the recipient and the donor originated from endemic areas. Serological analysis of the donor's serum performed retrospectively revealed the origin of the infection, which if it had been done beforehand would have prevented the serious complications. Current practice guidelines need to be updated to incorporate immunological and molecular techniques for the rapid screening of Strongyloides prior to transplantation, and empirical treatment with ivermectin should be applied systematically when there is the slightest risk of infection in the donor or recipient.

  11. A previously unreported association between Nance-Horan syndrome and spontaneous dental abscesses.

    Science.gov (United States)

    Hibbert, Sally

    2005-02-01

    Atypical dentofacial structures may be the first indicator of other anomalies linked to a syndrome. This case describes the management of a 9-year-old girl referred for the routine management of supernumerary teeth. The anomalous form of her teeth, together with multiple supernumerary units and a history of congenital cataracts, were suggestive of a diagnosis of Nance-Horan syndrome. This is an X-linked disorder, in which females usually demonstrate mild expression; this case was unusual in respect to the marked phenotype expressed. Unusually, the girl developed 2 spontaneous abscesses of her noncarious upper incisor teeth; a feature never previously described in this syndrome. This report details the patient's dental management and discusses the possible pathogenesis of the dental abscesses, together with the genetic implications of this syndrome.

  12. Chromosome 21-derived MicroRNAs Provide an Etiological Basis for Aberrant Protein Expression in Human Down Syndrome Brains*

    Science.gov (United States)

    Kuhn, Donald E.; Nuovo, Gerard J.; Terry, Alvin V.; Martin, Mickey M.; Malana, Geraldine E.; Sansom, Sarah E.; Pleister, Adam P.; Beck, Wayne D.; Head, Elizabeth; Feldman, David S.; Elton, Terry S.

    2010-01-01

    Down syndrome (DS), or Trisomy 21, is the most common genetic cause of cognitive impairment and congenital heart defects in the human population. Bioinformatic annotation has established that human chromosome 21 (Hsa21) harbors five microRNA (miRNAs) genes: miR-99a, let-7c, miR-125b-2, miR-155, and miR-802. Our laboratory recently demonstrated that Hsa21-derived miRNAs are overexpressed in DS brain and heart specimens. The aim of this study was to identify important Hsa21-derived miRNA/mRNA target pairs that may play a role, in part, in mediating the DS phenotype. We demonstrate by luciferase/target mRNA 3′-untranslated region reporter assays, and gain- and loss-of-function experiments that miR-155 and -802 can regulate the expression of the predicted mRNA target, the methyl-CpG-binding protein (MeCP2). We also demonstrate that MeCP2 is underexpressed in DS brain specimens isolated from either humans or mice. We further demonstrate that, as a consequence of attenuated MeCP2 expression, transcriptionally activated and silenced MeCP2 target genes, CREB1/Creb1 and MEF2C/Mef2c, are also aberrantly expressed in these DS brain specimens. Finally, in vivo silencing of endogenous miR-155 or -802, by antagomir intra-ventricular injection, resulted in the normalization of MeCP2 and MeCP2 target gene expression. Taken together, these results suggest that improper repression of MeCP2, secondary to trisomic overexpression of Hsa21-derived miRNAs, may contribute, in part, to the abnormalities in the neurochemistry observed in the brains of DS individuals. Finally these results suggest that selective inactivation of Hsa21-derived miRNAs may provide a novel therapeutic tool in the treatment of DS. PMID:19897480

  13. Breakpoint localization of the marker chromosome associated with the cat eye syndrome.

    Science.gov (United States)

    Duncan, A M; Hough, C A; White, B N; McDermid, H E

    1986-01-01

    We investigated the breakpoints involved in the generation of the supernumerary bisatellited chromosome associated with the Cat Eye syndrome. In situ hybridization of DNA probes from band 22q11 revealed that, for two individuals with the Cat Eye syndrome, both breakpoints for the bisatellited chromosome were distal to the DNA sequence corresponding to probe D22S9 and proximal to the immunoglobulin C lambda genes and to at least one subgroup of the V lambda genes. PMID:3088989

  14. Breakpoint localization of the marker chromosome associated with the cat eye syndrome.

    OpenAIRE

    Duncan, A M; Hough, C A; White, B N; McDermid, H E

    1986-01-01

    We investigated the breakpoints involved in the generation of the supernumerary bisatellited chromosome associated with the Cat Eye syndrome. In situ hybridization of DNA probes from band 22q11 revealed that, for two individuals with the Cat Eye syndrome, both breakpoints for the bisatellited chromosome were distal to the DNA sequence corresponding to probe D22S9 and proximal to the immunoglobulin C lambda genes and to at least one subgroup of the V lambda genes.

  15. Systemic radical scavenger treatment of a mouse model of Rett syndrome: merits and limitations of the vitamin E derivative Trolox

    Directory of Open Access Journals (Sweden)

    Oliwa Alicja Janc

    2016-11-01

    Full Text Available Rett syndrome (RTT is a severe neurodevelopmental disorder typically arising from spontaneous mutations in the X-chromosomal methyl-CpG binding protein 2 (MECP2 gene. The almost exclusively female Rett patients show an apparently normal development during their first 6-18 months of life. Subsequently, cognitive- and motor-impairment, hand stereotypies, loss of learned skills, epilepsy, and irregular breathing manifest. Early mitochondrial impairment and oxidative challenge are considered to facilitate disease progression. Along this line, we recently confirmed in vitro that acute treatment with the vitamin E-derivative Trolox dampens neuronal hyperexcitability, reinstates synaptic plasticity, ameliorates cellular redox balance, and improves hypoxia tolerance in male MeCP2-deficient (Mecp2-/y mouse hippocampus. Pursuing these promising findings, we performed a preclinical study to define the merit of systemic Trolox administration. Blinded, placebo-controlled in vivo treatment of male mice started at postnatal day 10-11 and continued for ~40 days. Compounds (vehicle only, 10 mg/kg or 40 mg/kg Trolox were injected intraperitoneally every 48h. Detailed phenotyping revealed that in Mecp2-/y mice, blood glucose levels, lipid peroxidation, synaptic short-term plasticity, hypoxia tolerance, and certain forms of environmental exploration were improved by Trolox. Yet, body weight and size, motor function, and the rate and regularity of breathing did not improve. In conclusion, in vivo Trolox treatment partially ameliorated a subset of symptoms of the complex Rett phenotype, thereby confirming a partial merit of the vitamin E-derivative based pharmacotherapy. Yet, it also became evident that frequent animal handling and the route of drug administration are critical issues to be optimized in future trials.

  16. A rare case of impacted supernumerary premolar causing resorption of mandibular first molar

    Directory of Open Access Journals (Sweden)

    R V Murali

    2015-01-01

    Full Text Available The management of patients with pain in today′s general practice has become a major concern and sometimes this pain is related to some rare causes. A male patient aged 26 years reported with pain in the lower left molar region (36 and then an intra-oral periapical radiograph (IOPA, and orthopantomograph was taken. IOPA revealed the presence of supernumerary premolar causing pressure and root resorption of 36. Also, there was missing 21 and proximal decay in 11. Eleven was treated endodontically, and then bridge was done in relation to 11, 21 and 22. Lower anterior crowding was also present. The treatment plan was to extract 36 followed by orthodontic extrusion of the supernumerary premolar and also the correction of lower anterior crowding. Hidden approach (lingual orthodontics was used as the patient was insisting upon the braces not being seen outside during the course of the treatment. Later all ceramic bridge was done in relation to 11, 21 and 22. Orthodontic tooth extrusion techniques offer excellent treatment options for Partially Impacted tooth. It is a well-documented clinical method for extruding sound tooth material from within the alveolar socket by light forces. The use of lingual technique for forced eruption enhance acceptance of orthodontic treatment by adults. The treatment of a young adult patient illustrates the importance of treatment planning from one discipline to another, communication among team members and the benefits of working together in an interdisciplinary approach

  17. Application to forensic odontology of aspartic acid racemization in unerupted and supernumerary teeth.

    Science.gov (United States)

    Ogino, T; Ogino, H

    1988-10-01

    Racemization of aspartic acid in dentin protein during the human lifetime progresses with age. The extent of racemization of aspartic acid in coronal dentin of normal permanent teeth can be used in forensic odontology to estimate the age of an individual at the time of death (Ogino et al., 1985). A series of experiments was conducted with dentin separated from unerupted and supernumerary teeth of various ages in an attempt to evaluate the advantages and limitations of this age-estimation method. The current study on nine tooth specimens showed that some unerupted permanent teeth with normal-sized and -shaped crowns (impacted third molar, canine, and incisor) could be used to estimate the age of individuals at the time of death within +/- 4 years. However, supernumerary teeth (mesiodens, paramolar) with extremely tiny (length of crown: 4 approximately 5 mn) and abnormally shaped crowns could not be used for analysis. In such cases, the estimated age of individuals analyzed by the racemization method deviated considerably from their actual age.

  18. Recurrent epistaxis caused by an intranasal supernumerary tooth in a young adult.

    Science.gov (United States)

    Al Dhafeeri, Hamed O; Kavarodi, Abdulmajid; Al Shaikh, Khalil; Bukhari, Ahmed; Al Hussain, Omair; El Baramawy, Ahmed

    2014-01-01

    Male, 27. Recurrent epistaxis. Nasal bleeding. -. -. Pediatrics and Neonatology. Congenital defects/diseases. Recurrent epistaxis is a common disorder among children and young adults. We report an unusual cause, intranasal supernumerary tooth causing friction with Little's area of the nasal septum. A 22-year-old male presented with recurrent, mild, unilateral left-sided epistaxis once to twice per month for 3 years. This usually occurred after minor nasal trauma or rubbing his nose. The patient also suffered from recurrent tonsillitis. There was neither history of blood transfusion or nasal packing, nor a history suggestive of bleeding diathesis. Anterior rhinoscopy revealed ivory white nasal mass antero-inferiorly in the left nasal cavity touching Little's area. There was no bleeding. Nasal endoscopy showed a white cylindrical bony mass 1 cm long arising from the floor of the nose, with no attachment to the nasal septum or the lateral wall of the nose. Examination of the right nasal cavity was unremarkable. Nasal teeth result from the ectopic eruption of supernumerary teeth and may cause a variety of symptoms including recurrent epistaxis. Their clinical and radiologic presentation is so characteristic that their diagnosis is not difficult. CT scan is helpful in planning management. Early extraction prevents further complications and prevents further attacks of epistaxis.

  19. {gamma}-irradiation deregulates cell cycle control and apoptosis in nevoid basal cell carcinomas syndrome-derived cells

    Energy Technology Data Exchange (ETDEWEB)

    Fujii, Katsunori; Miyashita, Toshiyuki; Yamada, Masao [National Children' s Medical Research Center, Tokyo (Japan); Takanashi, Jun-ichi; Sugita, Katsuo; Kohno, Yoichi; Nishie, Haruko; Yasumoto, Shin-ichiro; Furue, Masutaka

    1999-12-01

    The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by nevi, palmar and plantar pits, falx calcification, vertebrate anomalies and basal cell carcinomas. It is well known in NBCCS that {gamma}-irradiation to the skin induces basal cell carcinomas or causes an enlargement of the tumor size, although the details of the mechanism remain unknown. We have established lymphoblastoid cell lines from three NBCCS patients, and we present here the first evidence of abnormal cell cycle and apoptosis regulations. A novel mutation (single nucleotide deletion) in the coding region of the human patched gene, PTCH, was identified in two sibling patients, but no apparent abnormalities were detected in the gene of the remaining patient. Nevertheless, the three established cell lines showed similar features in the following analyses. Flow cytometric analyses revealed that the NBCCS-derived cells were accumulated in the G{sub 2}M phase after {gamma}-irradiation, whereas normal cells showed cell cycle arrest both in the G{sub 0}G{sub 1} and G{sub 2}M phases. The fraction of apoptotic cells after {gamma}-irradiation was smaller in the NBCCS cells. The level of p27 expression markedly decreased after {gamma}-irradiation in the NBCCS cells, although the effects of the irradiation on the expression profiles for p53, p21 and Rb did not differ in normal and NBCCS cells. These findings may provide a clue to the molecular mechanisms of tumorigenesis in NBCCS. (author)

  20. Comparison of radiosensitivity between human hematopoietic cell lines derived from patients with Down's syndrome and from normal persons

    International Nuclear Information System (INIS)

    Huang, C.C.; Banerjee, A.; Tan, J.C.; Hou, Y.

    1977-01-01

    Seven hematopoietic cell lines, four derived from the peripheral blood of patients with Down's syndrome (DS) and three from normal persons, were irradiated with 100, 150, 300, and 500 rads from a 60 Co source and harvested for cell count and chromosome aberration studies every 12 hours for 72 hours post irradiation. Cell growth inhibition and an increase in chromosome aberration were observed in all the cell lines at each dose level and time interval. No significant difference was observed in the effects between DS and normal cell lines. The most common types of aberrations in the 12-hour samples were chromosome and/or chromatid breaks. In the later samples, chromatid exchanges were predominant. The results of the variance analyses on the induced chromosome aberrations in six lines (three DS and three normal lines) showed radiation dosage to be the largest component of total variance, following postirradiation duration and cell lines. The samples harvested 24 and 36 hours post irradiation generally showed greater effects than the samples of other harvest durations. The cell line variance could only be attributed to the differences among and between individual cell lines rather than the difference between DS and normal cell lines

  1. Serum level of brain-derived neurotrophic factor in fibromyalgia syndrome correlates with depression but not anxiety.

    Science.gov (United States)

    Nugraha, Boya; Korallus, Christoph; Gutenbrunner, Christoph

    2013-02-01

    Brain-derived neurotrophic factor (BDNF) has been known to play a role in fibromyalgia syndrome (FMS) patients. Depression and anxiety are quite common additional symptoms in FMS. However the role of BDNF in these symptoms still needs to be elucidated. Although BDNF has been shown to be relevant in major depression, however studies could not show such differences between FMS patients with and without major depression. As mood-related symptom occurs frequently and differs in its intensity in FMS patients, BDNF level should be measured in subgroup regarding depression and anxiety scale. Therefore the aim of this study was to evaluate the correlation of BDNF in serum of FMS with intensity of depression and anxiety. Additionally, interleukin (IL)-6 was measured. This study showed that serum level of BDNF was age-dependent in HCs. FMS patients had higher level of serum BDNF as compared to HC. Additionally, serum level of BDNF showed correlation with depression, but not with anxiety. Serum level of BDNF increased with depression score in FMS. However, serum level of IL-6 was not correlated with both depression and anxiety scores. Taken together, BDNF is involved in the pathophysiology of FMS. Additionally, it seems to be correlated with intensity of depressive symptoms in FMS. Copyright © 2013 Elsevier Ltd. All rights reserved.

  2. Influence analysis of cleft type and supernumerary teeth eruption in the prognosis of bone graft in patients with cleft palate.

    Science.gov (United States)

    Gaujac, Cristiano; de Souza Faco, Eduardo Francisco; Shinohara, Elio Hitoshi; de Souza Faco, Renato Andre; Pereira, Flávia Priscila; Assunção, Wirley Gonçalves

    2014-09-01

    The aim of this study was to investigate the influence of cleft type and supernumerary tooth eruption on the treatment of palatal clefts with alveolar bone grafts. In this article, medical records of 40 patients with palatal clefts and associated supernumerary teeth who were treated with alveolar bone grafting in the Hospital for Craniofacial Anomalies Rehabilitation were assessed. The patients were studied to assess the influence of supernumerary teeth and the cleft severity on the prognosis of the alveolar bone graft. Forty medical records were included in the assessment. When the teeth in the cleft had an anatomic shape close to canine, we called them precanine. When they were very small or malformed, we called them anomalous lateral incisors. The teeth studied showed good prognoses and were more expressive in the preforaminal clefts (87.5%) than in the transforaminal ones (62.5%). Moreover, the transforaminal clefts presented a higher percentage in satisfactory and poor prognoses (37.5%). The authors found that supernumerary teeth influenced the maintenance of alveolar bone graft height and that transforaminal clefts presented a worse prognosis than preforaminal clefts.

  3. The origin of the supernumerary subunits and assembly factors of complex I: A treasure trove of pathway evolution

    NARCIS (Netherlands)

    Elurbe, D.M.; Huynen, M.A.

    2016-01-01

    We review and document the evolutionary origin of all complex I assembly factors and nine supernumerary subunits from protein families. Based on experimental data and the conservation of critical residues we identify a spectrum of protein function conservation between the complex I representatives

  4. The supernumerary cheek tooth in tabby/EDA mice-a reminiscence of the premolar in mouse ancestors

    Czech Academy of Sciences Publication Activity Database

    Peterková, Renata; Lesot, H.; Viriot, L.; Peterka, Miroslav

    2005-01-01

    Roč. 50, - (2005), s. 219-225 ISSN 0003-9969 R&D Projects: GA MŠk OC B23.002; GA ČR GA304/02/0448 Institutional research plan: CEZ:AV0Z5039906 Keywords : supernumerary tooth * molar * odontogenesis Subject RIV: EA - Cell Biology Impact factor: 1.288, year: 2005

  5. The inv dup (15 or idic (15 syndrome (Tetrasomy 15q

    Directory of Open Access Journals (Sweden)

    Battaglia Agatino

    2008-11-01

    duplication. The possible occurrence of double supernumerary isodicentric chromosomes derived from chromosome 15, resulting in partial hexasomy of the maternally inherited PWS/ASCR, should be considered in the differential diagnosis. Large idic(15 are nearly always sporadic. Antenatal diagnosis is possible. Management of inv dup(15 includes a comprehensive neurophysiologic and developmental evaluation. Survival is not significantly reduced. Disease name and synonyms The inv dup(15 or idic(15 syndrome can also be termed "tetrasomy 15q". About 160 patients have been reported in the medical literature 12345.

  6. Early prenatal diagnosis of a lumbo-costo-vertebral syndrome.

    Science.gov (United States)

    Pristavu, Anda Ioana; Furnica, Cristina; Ifrim, Mona Mihaela; Popovici, Razvan Mihai

    2017-09-13

    Lumbo-costo-vertebral syndrome (LCVS) is a rare type of lumbar hernia with associated abnormalities of the vertebral bodies, ribs, and trunk muscles. Only a few cases have been reported in the literature, all of which were diagnosed after birth. We present a case of LCVS diagnosed early in the second trimester of pregnancy using two- and three-dimensional ultrasound. In our case, the associated anomalies were: multiple costovertebral anomalies, lumbar hernia, anal imperforation, left hand supernumerary digit, and clubfoot.

  7. [Associated brachial cleft anomalies in the cat eye syndrome].

    Science.gov (United States)

    Avior, Galit; Derowe, Ari; Fliss, Dan M; Leicear-Trejo, Leonor; Braverman, Itzhak

    2007-02-01

    The cat eye syndrome is a congenital malformation usually associated with anal atresia, ocular coloboma, downward slanting eyes, microphthalmia, hypertelorism, strabismus, preauricular tags or fistulas, congenital heart defect particularly septal defect, urinary tract abnormalities, skeletal anomalies and frequently mental and physical retardation. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited and represents an inv dup 22 (q11). A two years old female presented to our department with an association of cat eye syndrome with preauricular tags and a first branchial arch anomaly. This article discusses the surgical management and the association between the cat eye syndrome and first branchial cleft anomaly.

  8. Fibroadenoma in Axillary Supernumerary Breast in a 17-Year-Old Girl: Case Report.

    Science.gov (United States)

    Surd, Adrian; Mironescu, Aurel; Gocan, Horatiu

    2016-10-01

    Supernumerary breast or polymastia is a well documented anomaly of the breast, and commonly presents along the embryonic milk line extending between the axilla and groin. However, cases of polymastia have been recorded in the face, vulva, and perineum. The clinical significance of these anomalies include their susceptibility to inflammatory and malignant changes, and their association with other congenital anomalies of the urinary and cardiovascular systems. In this article we report a case of fibroadenoma that developed in the supernumerary breast of the right axilla in a 17-year-old girl. It is uncommon to find such palpable masses in young patients. Clinical and sonographic examination of both breasts revealed no abnormalities and no lymph nodes were detected in the axillae or the neck. No associated urologic or cardiovascular abnormalities were found, and the histopathological examination of the excisional biopsy samples showed a well-defined, capsulated intracanalicular type of fibroadenoma similar to that of eutopic mammary tissue. In this report, we describe a rare case of fibroadenoma in an accessory breast in a young woman. There are a fewer than 40 reports in the world about this subject, of which differential diagnoses include: cancer in axillary supernumerary breast, hidradenitis, axillary lymphadenomegaly, lipomas, anexial cutaneous neoplasia, cysts, and phylloides tumor. The combination of clinical examination, ultrasound, and cytology leads to adequate treatment, especially surgical. The diagnosis could be confused because of findings from cytology. In this case, because of the clinical and sonographic findings and multiple differential diagnosis, only the histopathological study was used to confirm the diagnosis. Despite its high sensitivity, cytology has low specificity and could create false positive results. However, atypical lesions can be seen in fibroadenomas, especially in younger patients, pregnant patients, and in patients who use hormonal

  9. A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family

    NARCIS (Netherlands)

    J. Knijnenburg (Jeroen); Y. van Bever (Yolande); L.O. Hulsman (Lorette ); C. van Kempen (Chantal); G.M. Bolman (Galhana); R.L.E. van Loon (Rosa Laura); H.B. Beverloo (Berna); L.J.C.M. van Zutven (Laura)

    2012-01-01

    textabstractCat eye syndrome (CES) is caused by a gain of the proximal part of chromosome 22. Usually, a supernumerary marker chromosome is present, containing two extra copies of the chromosome 22q11.1q11.21 region. More sporadically, the gain is present intrachromosomally. The critical region for

  10. Cytoplasmic aggregates of dynactin in iPSC-derived tyrosine hydroxylase-positive neurons from a patient with Perry syndrome.

    Science.gov (United States)

    Mishima, Takayasu; Ishikawa, Taizo; Imamura, Keiko; Kondo, Takayuki; Koshiba, Yasushi; Takahashi, Ryosuke; Takahashi, Jun; Watanabe, Akihiro; Fujii, Naoki; Tsuboi, Yoshio; Inoue, Haruhisa

    2016-09-01

    Perry syndrome is a rare autosomal dominant disorder clinically characterized by parkinsonism with depression/apathy, weight loss, and central hypoventilation. Eight mutations in DCTN1 gene have been reported. A novel disease model is required because the detailed pathogenesis remains unclear. To develop a novel model, we generated induced pluripotent stem cells (iPSCs) from a Perry syndrome patient with F52L mutation in DCTN1, and describe clinical and neuroimaging investigations. We differentiated iPSCs into tyrosine hydroxylase (TH)-positive neurons. Immunocytochemistry analyses of control and mutant were performed. The patient displayed levodopa responsive parkinsonism. Dopamine transporter single photon emission tomography showed markedly decreased uptake in the striatum, and metaiodobenzylguanidine cardiac scintigraphy also showed decreased uptake. Perry syndrome TH-positive neurons showed dynactin aggregates in cytoplasm. TH-positive neurons from Perry syndrome iPSCs recapitulated an aspect of the disease phenotype of Perry syndrome. Copyright © 2016 Elsevier Ltd. All rights reserved.

  11. Removal of Supernumerary Teeth Utilizing a Computer-Aided Design/Computer-Aided Manufacturing Surgical Guide.

    Science.gov (United States)

    Jo, Chanwoo; Bae, Doohwan; Choi, Byungho; Kim, Jihun

    2017-05-01

    Supernumerary teeth need to be removed because they can cause various complications. Caution is needed because their removal can cause damage to permanent teeth or tooth germs in the local vicinity. Surgical guides have recently been used in maxillofacial surgery. Because surgical guides are designed through preoperative analysis by computer-aided design software and fabricated using a 3-dimensional printer applying computer-aided manufacturing technology, they increase the accuracy and predictability of surgery. This report describes 2 cases of removal of a mesiodens-1 from a child and 1 from an adolescent-using a surgical guide; these would have been difficult to remove with conventional surgical methods. Copyright © 2016 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  12. Genetic basis of dentigerous cysts associated with supernumerary teeth: A narrative review.

    Science.gov (United States)

    Anthonappa, Robert P; Ekambaram, Manikandan; Neboda, Chaturi N G; King, Nigel M; Rabie, Abu-Bakr M

    2018-02-01

    In the present study, we sought to: (a) analyze the p53 gene status in dentigerous cysts (DC) associated with supernumerary teeth (ST) in a pair of siblings with ST, of whom one developed a DC; and (b) conduct a narrative review of the literature on ST associated with DC. Blood samples were obtained, and the isolated DNA was used to amplify exons 4-8 of the p53 gene using specific primers, and subsequently sequenced. No mutations were identified in the coding regions of the p53 gene. A review of the literature revealed a prevalence of DC associated with ST to be as high as 13.6%, and that 83% of the case reports performed enucleation of DC and removal of ST. Dentigerous cysts associated with ST in one sibling demonstrated that variations in phenotypes exist, and the absence of mutations cannot eliminate the potential influence of genetic risk factors. © 2017 John Wiley & Sons Australia, Ltd.

  13. Achondroplasia with multiple supplemental supernumerary teeth and multiple talon cusps: A rare case report.

    Science.gov (United States)

    Raviraj, Jayam; Suman, Venkata; Suresh, Dirasantchu; Kartik, K

    2017-01-01

    Achondroplasia is the most common cause of dwarfism, which is inherited as an autosomal dominant disorder, caused by genetic mutation in fibroblast growth factor 3, leading to defective maturation of chondrocytes. It is known to be associated with various oral and dental manifestations such as delayed dental development, midfacial hypoplasia and constricted maxilla with a relatively large mandible, resulting in skeletal/dental Class III malocclusion, posterior crossbite, anterior reverse jet and anterior overbite. However, the association of achondroplasia with talon cusp and supernumerary teeth has never been reported in the literature. Wehereby reported a case of achondroplasia associated with such unusual findings. Moreover, all the three variants of talon cusp, i.e., "true talon,"semitalon" and "trace talon" are observed in the present case, which makes it a unique one. Further double talon cusps were noticed in the palatal aspect of maxillary central incisors.

  14. A study on prevalence, complications, and possible etiologic factors of supernumerary teeth in 6–12-year-old schoolchildren of Rohtak, India

    Directory of Open Access Journals (Sweden)

    Seema Gupta

    2017-01-01

    Full Text Available Background: A study on prevalence, complications, and possible etiological factors of supernumerary teeth in 6–12-year-old schoolchildren of Rohtak, India. Aim: This study aimed to study the prevalence of supernumerary teeth in Rohtak district, Haryana, India and elucidate the possible etiological factors for their origin and the type of malocclusion caused by their presence. Materials and Methods: Two thousand and sixty school-going nonsyndromic children of 6–12-year age were examined for the presence of supernumerary teeth and referred to the Department of Pedodontics and Preventive Dentistry. Detailed history, clinical and radiographic examinations were done. Chi-squared test was used for statistical analysis. Results: Ninety-four supernumerary teeth were found in 81 children. All supernumerary teeth were found in maxilla. Most of these teeth were erupted, conical, and in the midline. Labial displacement of adjacent teeth was most commonly seen. Birth order of these children was mostly 2nd or 3rd, and majority of them belonged to the Jat community and were born at home by normal delivery. Conclusions: The present study emphasizes the necessity for early detection and appropriate management of supernumerary teeth. We suggest the development of further approaches including family studies to estimate the importance of genetic and possible environmental factors to attain a more precise knowledge of the etiology of hyperdontia.

  15. Combined Orthodontic-surgical Treatment for Skeletal Class III Malocclusion with Multiple Impacted Permanent and Supernumerary Teeth: Case Report.

    Science.gov (United States)

    Xue, Dai Juan And Feng

    2014-01-01

    In this report we describe a combined orthodontic and surgical treatment for a 14-year-old boy with severe skeletal class III deformity and dental problem. His upper posterior primary teeth in the left side were over-retained and 6 maxillary teeth (bilateral central incisors and canines, left first and second premolars) were impacted, together with 5 supernumerary teeth in both arches. The treatment protocol involved extraction of all the supernumerary and deciduous teeth, surgical exposure and orthodontic traction of the impacted teeth, a bimaxillary orthognathic approach including Lefort I osteotomy. Bilateral sagittal split ramus osteotomy (BSSRO) and genioplasty was performed to correct skeletal problem. After treatment, all of the impacted teeth were brought to proper alignment in the maxillary arch. A satisfied profile and good posterior occlusion was achieved. Treatment mechanics and consideration during different stages are discussed.

  16. Autotransplantation of a Supernumerary Tooth to Replace a Misaligned Incisor with Abnormal Dimensions and Morphology: 2-Year Follow-Up

    Directory of Open Access Journals (Sweden)

    R. Ebru Tirali

    2013-01-01

    Full Text Available Autotransplantation is a viable treatment option to restore esthetics and function impaired by abnormally shaped teeth when a suitable donors tooth is available. This paper describes the autotransplantation and 2-year follow-up of a supernumerary maxillary incisor as a replacement to a misaligned maxillary incisor with abnormal crown morphology and size. The supernumerary incisor was immediately autotransplanted into the extraction site of the large incisor and was stabilized with a bonded semirigid splint for 2 weeks. Fixed orthodontic therapy was initiated 3 months after autotransplantation. Ideal alignment of the incisors was accomplished after 6 months along with radiographic evidence of apical closure and osseous/periodontal regeneration. In autogenous tooth transplantation, a successful clinical outcome can be achieved if the cases are selected and treated properly.

  17. Sarjeev's supernumerary tooth notation system: a universally compatible add-on to the Two-Digit system.

    Science.gov (United States)

    Yadav, Sarjeev Singh; Sonkurla, Sapna

    2013-01-01

    To give notation for quadrants, tooth position, and the type of supernumerary teeth for both permanent and deciduous dentition. Tooth numbering provides dentists with an essential shortcut in clinical record keeping. Three systems are favored worldwide: the Zsigmondy/Palmer system, the Universal system, and the Federation Dentaire Internationale (FDI) Two-Digit system. Histories of all tooth-numbering methods were traced and the strengths and deficiencies of each system were reviewed. The FDI Two-Digit system is widely used throughout the world, except USA, and is the only method that makes the visual sense, cognitive sense, and computer sense. On review it was noticed that all tooth notation systems in vogue have a drawback as they do not provide any information or notations for supernumerary teeth such as paramolar, distomolar, mesiodens, and fused teeth.

  18. Sarjeev′s supernumerary tooth notation system: A universally compatible add-on to the Two-Digit system

    Directory of Open Access Journals (Sweden)

    Sarjeev Singh Yadav

    2013-01-01

    Full Text Available Aim: To give notation for quadrants, tooth position, and the type of supernumerary teeth for both permanent and deciduous dentition. Tooth numbering provides dentists with an essential shortcut in clinical record keeping. Materials and Methods: Three systems are favored worldwide: the Zsigmondy/Palmer system, the Universal system, and the Federation Dentaire Internationale (FDI Two-Digit system. Histories of all tooth-numbering methods were traced and the strengths and deficiencies of each system were reviewed. The FDI Two-Digit system is widely used throughout the world, except USA, and is the only method that makes the visual sense, cognitive sense, and computer sense. Conclusion: On review it was noticed that all tooth notation systems in vogue have a drawback as they do not provide any information or notations for supernumerary teeth such as paramolar, distomolar, mesiodens, and fused teeth.

  19. Origin of B chromosomes in Characidium alipioi (Characiformes, Crenuchidae) and its relationship with supernumerary chromosomes in other Characidium species

    OpenAIRE

    Freitas,Érica; Utsunomia,Ricardo; Sobrinho-Scudeler,Patrícia; Oliveira,Claudio; Foresti,Fausto

    2017-01-01

    Abstract B chromosomes are apparently dispensable components found in the genomes of many species that are mainly composed of repetitive DNA sequences. Among the numerous questions concerning B chromosomes, the origin of these elements has been widely studied. To date, supernumerary chromosomes have been identified in approximately 60 species of fish, including species of the genus Characidium Reinhardt, 1867 in which these elements appear to have independently originated. In this study, we u...

  20. Comparison of animal-derived surfactants for the prevention and treatment of respiratory distress syndrome in preterm infants.

    Science.gov (United States)

    Singh, Neetu; Halliday, Henry L; Stevens, Timothy P; Suresh, Gautham; Soll, Roger; Rojas-Reyes, Maria Ximena

    2015-12-21

    Animal-derived surfactants have been shown to have several advantages over the first generation synthetic surfactants and are the most commonly used surfactant preparations. The animal-derived surfactants in clinical use are minced or lavaged and modified or purified from bovine or porcine lungs. It is unclear whether significant differences in clinical outcome exist among the available bovine (modified minced or lavage) and porcine (minced or lavage) surfactant extracts. To compare the effect of administration of different animal-derived surfactant extracts on the risk of mortality, chronic lung disease, and other morbidities associated with prematurity in preterm infants at risk for or having respiratory distress syndrome (RDS). We used the standard search strategy of the Cochrane Neonatal Review group to search the Cochrane Central Register of Controlled Trials (CENTRAL 2015, Issue 7), MEDLINE via PubMed (1966 to July 31, 2015), EMBASE (1980 to July 31, 2015), and CINAHL (1982 to July 31, 2015). We also searched clinical trials databases, conference proceedings, and the reference lists of retrieved articles for randomized controlled trials and quasi-randomized trials. Randomized or quasi-randomized controlled trials that compared the effect of animal-derived surfactant extract treatment administered to preterm infants at risk for or having RDS to prevent complications of prematurity and mortality. Data regarding clinical outcomes were excerpted from the reports of the clinical trials by the review authors. Subgroup analyses were performed based on gestational age, surfactant dosing and schedule, treatment severity and treatment strategy. Data analysis was performed in accordance with the standards of the Cochrane Neonatal Review Group. Sixteen randomized controlled trials were included in the analysis. Bovine lung lavage surfactant extract to modified bovine minced lung surfactant extract: Seven treatment studies and two prevention studies compared bovine lung

  1. Synthesis of N-(6-(4-(Piperazin-1-yl)phenoxy)pyridin-3-yl)benzenesulfonamide Derivatives for the Treatment of Metabolic Syndrome.

    Science.gov (United States)

    Deka, Nabajyoti; Bajare, Swapnil; Anthony, Jessy; Nair, Amrutha; Damre, Anagha; Patel, Dharmeshkumar; B-Rao, Chandrika; Sivaramakrishnan, H; Mutt, Shivaprakash Jagalur; Wilankar, Chandan; Marita, Rosalind

    2013-01-01

    Metabolic syndrome is a widely prevalent multifactorial disorder associated with an increased risk of cardiovascular disease and type 2 diabetes mellitus. High plasma levels of insulin and glucose due to insulin resistance are a major component of the metabolic disorder. Thiazolidinediones (TZDs) are potent PPARγ ligand and used as insulin sensitizers in the treatment of type 2 diabetes mellitus. They are potent insulin-sensitizing agents but due to adverse effects like hepatotoxicity, a safer alternative of TZDs is highly demanded. Here we report synthesis of N-(6-(4-(piperazin-1-yl)phenoxy)pyridin-3-yl)benzenesulfonamide derivatives as an alternate remedy for insulin resistance.

  2. Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region

    Energy Technology Data Exchange (ETDEWEB)

    Riazi, M.A.; Mears, A.J.; McDermid, H.E. [Univ. of Alberta (Canada)] [and others

    1994-09-01

    Cat eye syndrome is characterized cytogenetically by the presence of a supernumerary marker chromosome derived from duplicated regions of 22pter-22q11.2. In order to study this syndrome, we have mapped and cloned within the CES critical region (CESCR) in 22q11.2. A long-range map was constructed using probes previously mapped to the CESCR by somatic cell hybrids. The map spans from probes LN63 to D22S36 and covers approximately 3 Mb. Probes within the region were used to isolate YACs, producing a contig of approximately 1.5 Mb (cLN63-D22S57). DNA studies of a cat eye patient with an unusual marker chromosome refined the minimal critical region proximal to D22S57, indicating that most of the CESCR is now cloned. The physical map will allow us to further delineate the CESCR and isolate genes in the region. Towards this end, we have performed {open_quotes}exon-trapping{close_quotes}on a cosmid, CN63, in this region. A 250 bp exon was isolated which maps to the CESCR and has no homology in GenBank. Further characterization of the gene containing this exon is in progress.

  3. Data regarding association between serum osteoprotegerin level, numerous of circulating endothelial-derived and mononuclear-derived progenitor cells in patients with metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Alexander E. Berezin

    2016-09-01

    Full Text Available Metabolic syndrome (MetS is defined as cluster of multiple metabolic and cardiovascular (CV abnormalities included abdominal obesity, high-normal blood pressure, dyslipidaemia, and impaired fasting glucose tolerance that exhibits has a growing prevalence worldwide. We investigated whether an elevated level of osteoprotegerin (OPG predicts imbalance between different phenotypes of circulating endothelial (EPCs and mononuclear (MPCs progenitor cells in MetS patients. We have analyzed data regarding dysmetabolic disorder subjects without known CV disease, as well as with known type two diabetes mellitus. All patients have given their informed written consent for participation in the study. This article contains data on the independent predictors of depletion in numerous of circulating EPCs and MPCs in MetS patients. The data are supplemental to our original research article describing detailed associations of elevated OPG level in MetS patients with numerous of EPCs and MPCs beyond traditional CV risk factors.

  4. The subclavius posticus muscle: an unusual cause of thoracic outlet syndrome.

    Science.gov (United States)

    Smayra, T; Nabhane, L; Tabet, G; Menassa-Moussa, L; Hachem, K; Haddad-Zebouni, S

    2014-09-01

    We present the case of a 30-year-old female, complaining of thoracic outlet compression symptoms caused by a supernumerary muscle, the subclavius posticus, accompanied by a caudally inserted middle scalenus muscle on the second rib. This rare anatomic variant was clearly shown on CT angiography and MRI images and surgical treatment was successful. As first described by Rosenmuller in 1800, subclavius posticus is a supernumerary muscle originating from the cranial surface of the sternal end of the first rib, running laterodorsally beneath the clavicle, and inserting into the superior border of the scapula. Its role in thoracic outlet syndrome has been seldom demonstrated in living patients nor described in imaging, although it is theoretically easily recognizable on modern imaging modalities. It should be taken into account during workout of patients with thoracic outlet syndrome, since it can be potentially treated.

  5. Beyond the big five: the Dark Triad and the supernumerary personality inventory.

    Science.gov (United States)

    Veselka, Livia; Schermer, Julie Aitken; Vernon, Philip A

    2011-04-01

    The Dark Triad of personality, comprising Machiavellianism, narcissism, and psychopathy, was investigated in relation to the Supernumerary Personality Inventory (SPI) traits, because both sets of variables are predominantly distinct from the Big Five model of personality. Correlational and principal factor analyses were conducted to assess the relations between the Dark Triad and SPI traits. Multivariate behavioral genetic model-fitting analyses were also conducted to determine the correlated genetic and/or environmental underpinnings of the observed phenotypic correlations. Participants were 358 monozygotic and 98 same-sex dizygotic adult twin pairs from North America. As predicted, results revealed significant correlations between the Dark Triad and most SPI traits, and these correlations were primarily attributable to common genetic and non-shared environmental factors, except in the case of Machiavellianism, where shared environmental effects emerged. Three correlated factors were extracted during joint factor analysis of the Dark Triad and SPI traits, as well as a heritable general factor of personality - results that clarified the structure of the Dark Triad construct. It is concluded that the Dark Triad represents an exploitative and antisocial construct that extends beyond the Big Five model and shares a theoretical space with the SPI traits.

  6. Characteristics and sequelae of erupted supernumerary teeth: A study of 218 cases among Sri Lankan children.

    Science.gov (United States)

    Herath, Chandra; Jayawardena, Chantha; Nagarathne, Nandani; Perera, Kanthi

    2017-11-01

    In the present study, we investigated the characteristics and sequelae of erupted supernumerary teeth (ST) in a sample of Sri Lankan children. Data were recorded from patients' clinical records, radiographs, models, and extracted teeth. The sample consisted of 239 ST from 218 patients. The mean age of the sample was 9.08 ± 2.47 years. The male-to-female ratio was 2.8:1. The majority (42.66%) of patients with ST were in aged 8-10 years. Many (94.94%) of the ST were located in the premaxilla (incisor), followed by the canine (4.22%), premolar (0.42%), and molar (0.42%) regions. The most common shape of ST teeth was conical. Malocclusion (59.83%) was the major problem associated with ST, and the clinical impact was highest on the 8-10-year age group. A strong association was observed between patients' age and clinical impact to the dentition (χ 2 =42.09, P=.000). Because the majority of ST can lead to malocclusion, especially in mixed dentition, awareness, early detection, and timely clinical intervention of ST are recommended. © 2016 John Wiley & Sons Australia, Ltd.

  7. Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization

    Directory of Open Access Journals (Sweden)

    Hing Anne V

    2008-04-01

    Full Text Available Abstract Background Supernumerary marker chromosomes (SMCs are structurally abnormal extra chromosomes that cannot be unambiguously identified by conventional banding techniques. In the past, SMCs have been characterized using a variety of different molecular cytogenetic techniques. Although these techniques can sometimes identify the chromosome of origin of SMCs, they are cumbersome to perform and are not available in many clinical cytogenetic laboratories. Furthermore, they cannot precisely determine the region or breakpoints of the chromosome(s involved. In this study, we describe four patients who possess one or more SMCs (a total of eight SMCs in all four patients that were characterized by microarray comparative genomic hybridization (array CGH. Results In at least one SMC from all four patients, array CGH uncovered unexpected complexity, in the form of complex rearrangements, that could have gone undetected using other molecular cytogenetic techniques. Although array CGH accurately defined the chromosome content of all but two minute SMCs, fluorescence in situ hybridization was necessary to determine the structure of the markers. Conclusion The increasing use of array CGH in clinical cytogenetic laboratories will provide an efficient method for more comprehensive characterization of SMCs. Improved SMC characterization, facilitated by array CGH, will allow for more accurate SMC/phenotype correlation.

  8. 17β-Estradiol induces supernumerary primordial germ cells in embryos of the polychaete Platynereis dumerilii.

    Science.gov (United States)

    Lidke, Anika K; Bannister, Stephanie; Löwer, Andreas M; Apel, David M; Podleschny, Martina; Kollmann, Martin; Ackermann, Christian F; García-Alonso, Javier; Raible, Florian; Rebscher, Nicole

    2014-01-15

    In the polychaete Platynereis dumerilii exactly four primordial germ cells (PGCs) arise in early development and are subject to a transient mitotic arrest until the animals enter gametogenesis. In order to unravel the mechanisms controlling the number of PGCs in Platynereis, we tested whether the steroid 17β-estradiol (E2) is able to induce PGC proliferation, as it had been described in other species. Our data provide strong support for such a mechanism, showing that E2 significantly increases the occurrence of larvae with supernumerary PGCs in Platynereis in a dose dependent manner. E2 responsiveness is restricted to early developmental stages, when the PGCs are specified. During these stages, embryos exhibit high expression levels of the estradiol receptor (ER). The ER transcript localizes to the yolk-free cytoplasm of unfertilized eggs and segregates into the micromeres during cleavage stages. Nuclear ER protein is found asymmetrically distributed between daughter cells. Neither transcript nor protein is detectable in PGCs at larval stages. Addition of the specific estradiol receptor inhibitor ICI-182,780 (ICI) abolishes the proliferative effect of E2, suggesting that it is mediated by ER signaling. Our study reports for the first time an ER mediated proliferative effect of E2 on PGCs in an invertebrate organism. Copyright © 2013 Elsevier Inc. All rights reserved.

  9. Ownership and Agency of an Independent Supernumerary Hand Induced by an Imitation Brain-Computer Interface.

    Directory of Open Access Journals (Sweden)

    Luke Bashford

    Full Text Available To study body ownership and control, illusions that elicit these feelings in non-body objects are widely used. Classically introduced with the Rubber Hand Illusion, these illusions have been replicated more recently in virtual reality and by using brain-computer interfaces. Traditionally these illusions investigate the replacement of a body part by an artificial counterpart, however as brain-computer interface research develops it offers us the possibility to explore the case where non-body objects are controlled in addition to movements of our own limbs. Therefore we propose a new illusion designed to test the feeling of ownership and control of an independent supernumerary hand. Subjects are under the impression they control a virtual reality hand via a brain-computer interface, but in reality there is no causal connection between brain activity and virtual hand movement but correct movements are observed with 80% probability. These imitation brain-computer interface trials are interspersed with movements in both the subjects' real hands, which are in view throughout the experiment. We show that subjects develop strong feelings of ownership and control over the third hand, despite only receiving visual feedback with no causal link to the actual brain signals. Our illusion is crucially different from previously reported studies as we demonstrate independent ownership and control of the third hand without loss of ownership in the real hands.

  10. Frequency variations of discrete cranial traits in major human populations. I. Supernumerary ossicle variations.

    Science.gov (United States)

    Hanihara, T; Ishida, H

    2001-06-01

    Four supernumerary ossicle variations-the ossicle at the lambda, the parietal notch bone, the asterionic bone, and the occipitomastoid bone-were examined for laterality differences, intertrait correlations, sex differences, and between group variations in the samples from around the world. Significant laterality differences were not detected in almost all samples. In some pairs of traits, significant association of occurrence were found. Several geographic samples were sexually dimorphic with respect to the asterionic bone and to a lesser extent for the parietal notch bone. East/Northeast Asians including the Arctic populations in general had lower frequencies of the 4 accessory ossicles. Australians, Melanesians and the majority of the New World peoples, on the other hand, generally had high frequencies. In the western hemisphere of the Old World, Subsaharan Africans had relatively high frequencies. Except for the ossicle at the lambda, the distribution pattern in incidence showed clinal variation from south to north. Any identifiable adaptive value related to environmental or subsistence factors may be expressed in such clinal variation. This may allow us to hypothesise that not only mechanical factors but a founder effect, genetic drift, and population structure could have been the underlying causes for interregional variation and possible clines in the incidences of the accessory ossicles.

  11. Supernumerary teeth amongst Iranian orthodontic patients. A retrospective radiographic and clinical survey.

    Science.gov (United States)

    Vahid-Dastjerdi, Elaheh; Borzabadi-Farahani, Ali; Mahdian, Mina; Amini, Nazila

    2011-03-01

    To investigate the prevalence, characteristics (malocclusion, location, type) and gender distribution of supernumerary teeth (ST) in an Iranian orthodontic population. A retrospective study was carried out using radiographs (periapicals, panoramic) and study models of 1751 subjects (870 girls, 881 boys; age range 9-27 years). The Pearson chi-square test was used to determine differences in the distribution of ST when stratified by gender and malocclusion type. Fourteen ST were found in 13 patients (six males, seven females), giving a prevalence rate of 0.74%. The prevalence rate of ST was higher in Class III malocclusions (5.2%) and was a rare finding among Class II malocclusions (0.1%). The occurrence rate of ST was higher in maxilla (78.5%) than in mandible (21.5%). The most common type of ST was the conical form (43%). We did not observe any late-developing paramolar or distomolar ST. The prevalence rate of ST in our study was 0.74% and ST were more common among Class III malocclusions.

  12. Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay, Mental Retardation, and Dysmorphic Features

    Directory of Open Access Journals (Sweden)

    Jie Hu

    2011-01-01

    Full Text Available We characterized three supernumerary marker chromosomes (SMCs simultaneously present in a 2-year- and 10-month-old male patient with mental retardation and dysmorphic features. Peripheral blood chromosome analysis revealed two to three SMCs in 25/26 cells analyzed. The remaining one cell had one SMC. Microarray comparative genomic hybridization (aCGH showed mosaicism for gains of 5q35.3, 15q11.2q13.3, and 18p11.21q11.1 regions. All three gains contain multiple OMIM genes. FISH studies indicated that one of the SMCs is a dicentric ring 15 with two copies of the 15q11.2q13.3 region including SNRPN/UBE3A and two copies of the 5q35.3 region. One of the der(18s contains the 18 centromere and 18p11.2 regions, while the other der(18 has a signal for the 18 centromere only. The phenotype of the patient is compared with that of patients with tetrasomy 15q11.2q13.3, trisomy 5q35.3, and trisomy 18p11.2. Our study demonstrates that aCGH and FISH analyses are powerful tools, which complement the conventional cytogenetic analysis for the identification of SMCs.

  13. Adipogenic Impairment of Adipose Tissue-Derived Mesenchymal Stem Cells in Subjects With Metabolic Syndrome: Possible Protective Role of FGF2.

    Science.gov (United States)

    Oliva-Olivera, Wilfredo; Coín-Aragüez, Leticia; Lhamyani, Said; Clemente-Postigo, Mercedes; Torres, Juan Alcaide; Bernal-López, Maria Rosa; El Bekay, Rajaa; Tinahones, Francisco José

    2017-02-01

    The decreased expansion capacity of adipose tissue plays a crucial role in the onset of disorders associated with metabolic syndrome. The aim of this study was to examine the state of adipose tissue-derived mesenchymal stem cells (ASCs) from obese subjects with different metabolic profiles. This was a 2-year study to enroll subjects who underwent bariatric surgery or cholecystectomy. University Hospital. Patients who underwent either bariatric surgery (20 morbidly obese) or cholecystectomy (40 subjects) participated in the study. ASCs were obtained from both visceral and subcutaneous adipose tissue. Adipogenic, fibrotic gene expression was quantified by quantitative polymerase chain reaction; Smad7 and fibroblast growth factor 2 were quantified by western blotting and enzyme-linked immunosorbent assay, respectively. The susceptibility of ASCs to apoptosis, their population doubling time, and their clonogenic potential were evaluated. The worsening metabolic profile of the patients was accompanied by a decrease in the intrinsic levels of adipogenic gene expression, reduced proliferation rate, clonogenic potential, and exportation of fibroblast growth factor 2 to the cell surface of the ASCs derived from both tissues. In addition, the ASCs from patients without metabolic syndrome showed differences in susceptibility to apoptosis and expression of TGFβ-signaling inhibitory protein Smad7 with respect to the ASCs from patients with metabolic syndrome. Our results suggest that the decrease in adipogenic-gene mRNA and clonogenic potential, as well as the accumulation of fibrotic proteins with metabolic alterations, could be a relevant mechanism controlling the number and size of neogenerated adipocytes and involved in alteration of adipose-tissue expansion. Copyright © 2017 by the Endocrine Society

  14. The pattern of a specimen of Pycnogonum litorale (Arthropoda, Pycnogonida) with a supernumerary leg can be explained with the "boundary model" of appendage formation

    Science.gov (United States)

    Scholtz, Gerhard; Brenneis, Georg

    2016-02-01

    A malformed adult female specimen of Pycnogonum litorale (Pycnogonida) with a supernumerary leg in the right body half is described concerning external and internal structures. The specimen was maintained in our laboratory culture after an injury in the right trunk region during a late postembryonic stage. The supernumerary leg is located between the second and third walking legs. The lateral processes connecting to these walking legs are fused to one large structure. Likewise, the coxae 1 of the second and third walking legs and of the supernumerary leg are fused to different degrees. The supernumerary leg is a complete walking leg with mirror image symmetry as evidenced by the position of joints and muscles. It is slightly smaller than the normal legs, but internally, it contains a branch of the ovary and a gut diverticulum as the other legs. The causes for this malformation pattern found in the Pycnogonum individual are reconstructed in the light of extirpation experiments in insects, which led to supernumerary mirror image legs, and the "boundary model" for appendage differentiation.

  15. [Complex cyanotic heart defect in a newborn infant with cat eye syndrome].

    Science.gov (United States)

    Paul, T; Reimer, A; Wilken, M; Miller, K; Kallfelz, H C

    1991-04-01

    In a cyanotic newborn with characteristic features of Cat-Eye-Syndrome, cytogenetic examination disclosed a supernumerary small bisatellited chromosome. Angiography showed Tetralogy of Fallot with pulmonary atresia and a narrow patent ductus arteriosus with additional stenosis of the bifurcation of the pulmonary artery. At an age of 14 weeks, the patient died after the attempt of corrective cardiac surgery. Congenital cardiac malformation is present in more than one third of patients with cat-eye-syndrome and is usually the lifelimiting malformation in this syndrome.

  16. Prosthodontic management of a patient with Gardner′s syndrome: A clinical case report

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    Kunwarjeet Singh

    2014-01-01

    Full Text Available Gardner′s syndrome is a genetic condition demonstrating an autosomal dominant trait and characterized by the multiple colonic polyps (familial adenomatous polyposis coli with sebaceous cysts and jaw osteomas. Various dental abnormalities present in patient′s suffering with this syndrome includes multiple impacted or unerupted teeth, supernumerary teeth, hypodontia, compound odontomes and dentigerous cyst. In this case report, a patient with Gardner′s syndrome who suffered from functional and psychological problems owing to multiple impacted, unerupted teeth and hypodontia was presented. Patient was treated with a maxillary conventional overdenture opposing mandibular custom bar supported overdentures.

  17. Wide clinical variability in cat eye syndrome patients: four non-related patients and three patients from the same family.

    Science.gov (United States)

    Belangero, S I; Pacanaro, A N X; Bellucco, F T; Christofolini, D M; Kulikowski, L D; Guilherme, R S; Bortolai, A; Dutra, A R N; Piazzon, F B; Cernach, M C; Melaragno, M I

    2012-01-01

    A small supernumerary marker chromosome (sSMC) derived from chromosome 22 is a relatively common cytogenetic finding. This sSMC typically results in tetrasomy for a chromosomal region that spans the chromosome 22p arm and the proximal 2 Mb of 22q11.21. Using classical cytogenetics, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, and array techniques, 7 patients with sSMCs derived from chromosome 22 were studied: 4 non-related and 3 from the same family (mother, daughter, and son). The sSMCs in all patients were dicentric and bisatellited chromosomes with breakpoints in the chromosome 22 low-copy repeat A region, resulting in cat eye syndrome (CES) due to chromosome 22 partial tetrasomy 22pter→q11.2 including the cat eye chromosome region. Although all subjects presented the same chromosomal abnormality, they showed a wide range of phenotypic differences, even in the 3 patients from the same family. There are no previous reports of CES occurring within 3 patients in the same family. Thus, the clinical and follow-up data presented here contribute to a better delineation of the phenotypes and outcomes of CES patients and will be useful for genetic counseling. Copyright © 2012 S. Karger AG, Basel.

  18. Supernumerary teeth and pseudarthrosis of the mandible in a young male from the mediaeval cemetery in Stenjevec

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    Željka Bedić

    2010-06-01

    Full Text Available Anthropological analysis of a young adult male from the mediaeval Stenjevec skeletal series revealed supernumerary teeth on both sides of the mandible, and an un-united subcondylar fracture of the mandible. The first condition is a developmental abnormality, while subcondylar fractures are one of the most frequent fractures of the mandible. Although, the osteological collection of the Department of Archaeology of the Croatian academy of Sciences and Arts consists of nearly 5,500 skeletons, this is the first documented case that exhibits these conditions in Croatian archaeological skeletal series.

  19. Esthetic and endodontic management of fused maxillary lateral incisor and supernumerary teeth with all ceramic restoration after trauma

    Directory of Open Access Journals (Sweden)

    Kiranmeet Kaur Khurana

    2014-01-01

    Full Text Available Double or fusion of the teeth is a primary developmental anomaly union of two independently developing primary or permanent teeth. The tooth fusion may contribute to various significant problems such as crowding, caries and periodontal diseases. Fused teeth require an interdisciplinary approach combining the endodontic, esthetic and prosthetic treatments. All ceramic restoration meets the requirement of better appearance, biocompatibility and long life. By using restorative therapy esthetic and functional criteria were satisfied. Management of a case of fusion of a maxillary lateral incisor and a supernumerary tooth is presented.

  20. Association between maxillary anterior supernumerary teeth and impacted incisors in mixed dentition.

    Science.gov (United States)

    He, Dongmei; Mei, Li; Wang, Yan; Li, Jialing; Li, Huang

    2017-08-01

    Few researchers have investigated the relationship between supernumerary teeth (ST) and impacted incisors. The authors investigated the relationship between ST and impacted incisors in the maxillary anterior area in the mixed dentition. Using cone-beam computed tomography, the authors diagnosed 417 ST among 294 patients (age range, 6-12 years; 220 boys and 74 girls). The number, morphology, growth orientation, and position of ST were recorded along with the presence of impacted incisors. The authors reported that 23.1% of patients having ST (n = 68; mean [standard deviation] age 8.5 [1.6] years) also had impacted incisors. Morphology (molariform and odontomelike), growth orientation (normal and no orientation), and position (coronal) of the ST were significantly associated with impacted incisors (P < .05 for all). An increase of 1 year in age was associated with a decreased risk of having ST accompanied by impacted incisors (odds ratio, 0.76; 95% confidence interval, 0.63 to 0.92). An increase of 1 ST more than doubled the risk of having an impacted incisor (odds ratio, 2.39; 95% confidence interval, 1.44 to 3.96). In this population, the number, morphology, growth orientation, and position of ST as well as the patient's age were associated with impacted incisors in the maxillary anterior area during the mixed dentition. The presence and morphology of ST should alert the clinician to the increased likelihood of having impacted incisors and the need for early diagnosis and appropriate treatment. Copyright © 2017 American Dental Association. Published by Elsevier Inc. All rights reserved.

  1. Supernumerary registrar experience at the University of Cape Town, South Africa

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    S Peer

    2017-01-01

    Full Text Available Background. Despite supernumerary registrars (SNRs being hosted in South African (SA training programmes, there are no reports of their experience. Objectives. To evaluate the experience of SNRs at the University of Cape Town, SA, and the experience of SNRs from the perspective of SA registrars (SARs. Methods. SNRs and SARs completed an online survey in 2012. Results. Seventy-three registrars responded; 42 were SARs and 31 were SNRs. Of the SNRs 47.8% were self-funded, 17.4% were funded through private organisations, and 34.8% were funded by governments. Average annual income was ZAR102 349 (range ZAR680 - 460 000. Funding was considered insufficient by 61.0%. Eighty-seven percent intended to return to their home countries. Personal sacrifices were deemed worthwhile from academic (81.8% and social (54.5% perspectives, but not financially (33.3%. Only a small majority were satisfied with the orientation provided and with assimilation into their departments. Almost half experienced challenges relating to cultural and social integration. Almost all SARs supported having SNRs. SNRs reported xenophobia from patients (23.8% and colleagues (47.8%, and felt disadvantaged in terms of learning opportunities, academic support and on-call allocations. Conclusions. SNRs are fee-paying students and should enjoy academic and teaching support equal to that received by SARs. Both the university and the teaching hospitals must take steps to improve the integration of SNRs and ensure that they receive equal access to academic support and clinical teaching, and also need to take an interest in their financial wellbeing. Of particular concern are perceptions of xenophobia from SA medical colleagues.

  2. Supernumerary registrar experience at the University of Cape Town, South Africa.

    Science.gov (United States)

    Peer, S; Burrows, S A; Mankahla, N; Fagan, J J

    2016-12-21

    Despite supernumerary registrars (SNRs) being hosted in South African (SA) training programmes, there are no reports of their experience. To evaluate the experience of SNRs at the University of Cape Town, SA, and the experience of SNRs from the perspective of SA registrars (SARs). SNRs and SARs completed an online survey in 2012. Seventy-three registrars responded; 42 were SARs and 31 were SNRs. Of the SNRs 47.8% were self-funded, 17.4% were funded through private organisations, and 34.8% were funded by governments. Average annual income was ZAR102 349 (range ZAR680 - 460 000). Funding was considered insufficient by 61.0%. Eighty-seven percent intended to return to their home countries. Personal sacrifices were deemed worthwhile from academic (81.8%) and social (54.5%) perspectives, but not financially (33.3%). Only a small majority were satisfied with the orientation provided and with assimilation into their departments. Almost half experienced challenges relating to cultural and social integration. Almost all SARs supported having SNRs. SNRs reported xenophobia from patients (23.8%) and colleagues (47.8%), and felt disadvantaged in terms of learning opportunities, academic support and on-call allocations. SNRs are fee-paying students and should enjoy academic and teaching support equal to that received by SARs. Both the university and the teaching hospitals must take steps to improve the integration of SNRs and ensure that they receive equal access to academic support and clinical teaching, and also need to take an interest in their financial wellbeing. Of particular concern are perceptions of xenophobia from SA medical colleagues.

  3. Rye (Secale cereale) supernumerary (B) chromosomes associated with heat tolerance during early stages of male sporogenesis

    Science.gov (United States)

    Pereira, H. Sofia; Delgado, Margarida; Viegas, Wanda; Rato, João M.; Barão, Augusta; Caperta, Ana D.

    2017-01-01

    Background and aims Rye supernumerary (B) chromosomes have an accumulation mechanism involving the B subtelomeric domain highly enriched in D1100- and E3900-related sequences. In this work, the effects of heat stress during the early stages of male meiosis in 0B and +B plants were studied. Methods In-depth cytological analyses of chromatin structure and behaviour were performed on staged rye meiocytes utilizing DAPI, fluorescence in situ hybridization and 5-methylcytosine immune labelling. Quantitative real-time PCR was used to measure heat effects on the expression of the Hsp101 gene as well as the 3·9- and 2·7-kb E3900 forms in various tissues and meiotic stages. Key Results and Conclusions Quantitative real-time PCR established that heat induced equal up-regulation of the Hsp101 gene in 0B and 2B plants, with a marked peak in anthers with meiocytes staged at pachytene. Heat also resulted in significant up-regulation of E3900-related transcripts, especially at pachytene and for the truncated 2·7-kb form of E3900. Cytological heat-induced anomalies in prophase I, measured as the frequency of anomalous meiocytes, were significantly greater in 0B plants. Whereas telomeric sequences were widely distributed in a manner close to normal in the majority of 2B pachytene cells, most 0B meiocytes displayed abnormally clustered telomeres after chromosome pairing had occurred. Relevantly, bioinformatic analysis revealed a significantly high-density heat responsive cis regulatory sequence on E3900, clearly supporting stress-induced response of transcription for the truncated variant. Taken together, these results are the first indication that rye B chromosomes have implications on heat tolerance and may protect meiocytes against heat stress-induced damage. PMID:27818381

  4. Impact of apoptotic adipose-derived mesenchymal stem cells on attenuating organ damage and reducing mortality in rat sepsis syndrome induced by cecal puncture and ligation.

    Science.gov (United States)

    Chang, Chia-Lo; Leu, Steve; Sung, Hsin-Ching; Zhen, Yen-Yi; Cho, Chung-Lung; Chen, Angela; Tsai, Tzu-Hsien; Chung, Sheng-Ying; Chai, Han-Tan; Sun, Cheuk-Kwan; Yen, Chia-Hung; Yip, Hon-Kan

    2012-12-07

    We tested whether apoptotic adipose-derived mesenchymal stem cells (A-ADMSCs) were superior to healthy (H)-ADMSCs at attenuating organ damage and mortality in sepsis syndrome following cecal ligation and puncture (CLP). Adult male rats were categorized into group 1 (sham control), group 2 (CLP), group 3 [CLP + H-ADMSC administered 0.5, 6, and 18 h after CLP], group 4 [CLP + A-ADMSC administered as per group 3]. Circulating peak TNF-α level, at 6 h, was highest in groups 2 and 3, and higher in group 4 than group 1 (p HO-1, NQO-1) showed an opposite way of Bcl-2; these patterns were reversed for group 4 (all p < 0.001). Mortality was highest in group 3 and higher in group 2 than group 4 than group 1 (all p < 0.001). A-ADMSC therapy protected major organs from damage and improved prognosis in rats with sepsis syndrome.

  5. Cardiomyocytes Derived From Pluripotent Stem Cells Recapitulate Electrophysiological Characteristics of an Overlap Syndrome of Cardiac Sodium Channel Disease

    NARCIS (Netherlands)

    Davis, Richard P.; Casini, Simona; van den Berg, Cathelijne W.; Hoekstra, Maaike; Remme, Carol Ann; Dambrot, Cheryl; Salvatori, Daniela; Ward-van Oostwaard, Dorien; Wilde, Arthur A. M.; Bezzina, Connie R.; Verkerk, Arie O.; Freund, Christian; Mummery, Christine L.

    2012-01-01

    Background-Pluripotent stem cells (PSCs) offer a new paradigm for modeling genetic cardiac diseases, but it is unclear whether mouse and human PSCs can truly model both gain-and loss-of-function genetic disorders affecting the Na+ current (I-Na) because of the immaturity of the PSC-derived

  6. [Clinical evaluation of midazolam intravenous sedation under bispectral index monitoring on romoval of anterior supernumerary teeth in children].

    Science.gov (United States)

    Guan, Ming; Wang, En-bo; Liu, Yu; Cui, Nian-hui; Ding, Bei; Zhang, Wei

    2012-02-18

    To evaluate the efficacy and safety of midazolam intravenous sedation plus local anaesthesia on romoval of children's anterior supernumerary teeth in dental clinic. A total of 41 ASA I children with anterior supernumerary teeth aged 6 to 14 were selected for removal surgery, anaesthesia was done by moderate sedation by midazolam intravenous titration plus local anaesthesia. Heart rate (HR), blood pressure (BP), pulse oxygen saturation rate (SpO(2)), bispectral index (BIS) and Ramsay sedation score (RSS) at different time points were recorded (5 min after patient is in operation room, at local anaesthesia injection, at incision, 10 min after incision and at the end of operation). After operation, the overall efficacy of sedation by Houpt rating scale was evaluated by surgeon, anaesthesiologist and anaesthetic nurse. Among the 41 children, 29 were male, 12 were female, mean age (9.76 ± 2.46) years old; The average operation time was (23.83 ± 9.98) min, total dose of midazolam was (2.96 ± 0.92) mg with a dosage rate being (0.084 ± 0.016) mg/kg. There was a positive correlation between age and total dose (r=0.69, Psupernumerary teeth when BIS value is above 75.

  7. An unusual double supernumerary maxillary mesiodens in a Middle Iron Age skeleton from South Uist, Western Isles, Scotland.

    Science.gov (United States)

    Ives, Rachel

    2014-06-01

    Bilaterally occurring and fully erupted mesiodens occur infrequently in the modern population and have been little documented from past populations. This research presents an unusual case of a double maxillary mesiodens in the permanent dentition occurring in skeletal remains dating to the Middle Iron Age (250-410 AD) from South Uist, Western Isles of Scotland. Osteological analysis of an adult male included the inventory of teeth present/absent and analysis of dental pathologies (caries, calculus, periodontal disease, ante-mortem tooth loss, periapical abscesses), developmental defects and orthodontic anomalies (enamel hypoplastic defects, malposition, rotation, crowding, agenesis and supernumerary teeth). An unusual expression of double, fully erupted, mesiodens in the anterior permanent maxillary dentition representing supernumerary central incisors exists. The complete eruption had contributed to anterior displacement of one central incisor alveolar socket similar to documented modern clinical cases. Shallow sockets also implied an associated stunted development of the original central maxillary incisor roots. Occlusal enamel wear indicated the mesiodens had been abraded during mastication. Current clinical data suggest there is a much higher tendency for single mesiodens to exist rather than double and examples often fail to fully erupt into the dentition. This relative rarity may account for the few previous reports of this dental anomaly from past human remains and especially of this date. The fully erupted double example from South Uist contributes to the known evidence for orthodontic anomalies in the past. Copyright © 2014 Elsevier Ltd. All rights reserved.

  8. Origin of B chromosomes in Characidium alipioi (Characiformes, Crenuchidae) and its relationship with supernumerary chromosomes in other Characidium species.

    Science.gov (United States)

    Serrano, Érica Alves; Utsunomia, Ricardo; Scudeller, Patrícia Sobrinho; Oliveira, Claudio; Foresti, Fausto

    2017-01-01

    B chromosomes are apparently dispensable components found in the genomes of many species that are mainly composed of repetitive DNA sequences. Among the numerous questions concerning B chromosomes, the origin of these elements has been widely studied. To date, supernumerary chromosomes have been identified in approximately 60 species of fish, including species of the genus Characidium Reinhardt, 1867 in which these elements appear to have independently originated. In this study, we used molecular cytogenetic techniques to investigate the origin of B chromosomes in a population of Characidium alipioi Travassos, 1955 and determine their relationship with the extra chromosomes of other species of the genus. The results showed that the B chromosomes of Characidium alipioi had an intraspecific origin, apparently originated independently in relation to the B chromosomes of Characidium gomesi Travassos, 1956 Characidium pterostictum Gomes, 1947 and Characidium oiticicai Travassos, 1967, since they do not share specific DNA sequences, as well as their possible ancestral chromosomes and belong to different phylogenetic clades. The shared sequences between the supernumerary chromosomes and the autosommal sm pair indicate the origin of these chromosomes.

  9. Origin of B chromosomes in Characidium alipioi (Characiformes, Crenuchidae and its relationship with supernumerary chromosomes in other Characidium species

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    Érica Alves Serrano

    2017-01-01

    Full Text Available B chromosomes are apparently dispensable components found in the genomes of many species that are mainly composed of repetitive DNA sequences. Among the numerous questions concerning B chromosomes, the origin of these elements has been widely studied. To date, supernumerary chromosomes have been identified in approximately 60 species of fish, including species of the genus Characidium Reinhardt, 1867 in which these elements appear to have independently originated. In this study, we used molecular cytogenetic techniques to investigate the origin of B chromosomes in a population of Characidium alipioi Travassos, 1955 and determine their relationship with the extra chromosomes of other species of the genus. The results showed that the B chromosomes of C. alipioi had an intraspecific origin, apparently originated independently in relation to the B chromosomes of C. gomesi Travassos, 1956 C. pterostictum Gomes, 1947 and C. oiticicai Travassos, 1967, since they do not share specific DNA sequences, as well as their possible ancestral chromosomes and belong to different phylogenetic clades. The shared sequences between the supernumerary chromosomes and the autosommal sm pair indicate the origin of these chromosomes.

  10. Normalization of proliferation and tight junction formation in bladder epithelial cells from patients with interstitial cystitis/painful bladder syndrome by d-proline and d-pipecolic acid derivatives of antiproliferative factor.

    Science.gov (United States)

    Keay, Susan; Kaczmarek, Piotr; Zhang, Chen-Ou; Koch, Kristopher; Szekely, Zoltan; Barchi, Joseph J; Michejda, Christopher

    2011-06-01

    Interstitial cystitis/painful bladder syndrome is a chronic bladder disorder with epithelial thinning or ulceration, pain, urinary frequency and urgency, for which there is no reliably effective therapy. We previously reported that interstitial cystitis/painful bladder syndrome bladder epithelial cells make a glycopeptide antiproliferative factor or 'APF' (Neu5Acα2-3Galβ1-3GalNAcα-O-TVPAAVVVA) that induces abnormalities in normal cells similar to those in interstitial cystitis/painful bladder syndrome cells in vitro, including decreased proliferation, decreased tight junction formation, and increased paracellular permeability. We screened inactive APF derivatives for their ability to block antiproliferative activity of asialylated-APF ('as-APF') in normal bladder cells and determined the ability of as-APF-blocking derivatives to normalize tight junction protein expression, paracellular permeability, and/or proliferation of interstitial cystitis/painful bladder syndrome cells. Only two of these derivatives [Galβ1-3GalNAcα-O-TV-(d-pipecolic acid)-AAVVVA and Galβ1-3GalNAcα-O-TV-(d-proline)-AAVVVA] blocked as-APF antiproliferative activity in normal cells (p PCR; 2) normalized interstitial cystitis/painful bladder syndrome epithelial cell tight junction protein expression and tight junction formation by confocal immunofluorescence microscopy; and 3) decreased paracellular permeability of (14) C-mannitol and (3) H-inulin between confluent interstitial cystitis/painful bladder syndrome epithelial cells on Transwell plates, suggesting that these potent APF antagonists may be useful for the development as interstitial cystitis/painful bladder syndrome therapies. Published 2011. This article is a US Government work and is in the public domain in the USA.

  11. Diagnosis and Endodontic Management of Fused Mandibular Second Molar and Paramolar with Concrescent Supernumerary Tooth Using Cone-beam CT and 3-D Printing Technology: A Case Report.

    Science.gov (United States)

    Kato, Hiroshi; Kamio, Takashi

    2015-01-01

    Supernumerary teeth in the molar area are classified as paramolars or distomolars based on location. They occur frequently in the maxilla, but only rarely in the mandible. These teeth are frequently fused with adjacent teeth. When this occurs, the pulp cavities may also be connected. This makes diagnosis and planning of endodontic treatment extremely difficult. Here we report a case of a mandibular second molar fused with a paramolar, necessitating dental pulp treatment. Intraoral and panoramic radiographs were obtained for an evaluation and diagnosis. Although the images revealed a supernumerary tooth-like structure between the posterior area of the mandibular second molar and mandibular third molar, it was difficult to confirm the morphology of the tooth root apical area. Subsequent cone-beam computed tomography (CBCT) revealed that the supernumerary tooth-like structure was concrescent with the root apical area of the mandibular second molar. Based on these findings, the diagnosis was a fused mandibular second molar and paramolar with a concrescent supernumerary tooth. A 3-dimensional (3-D) printer was used to produce models based on the CBCT data to aid in treatment planning and explanation of the proposed procedures to the patient. These models allowed the complicated morphology involved to be clearly viewed, which facilitated a more precise diagnosis and better treatment planning than would otherwise have been possible. These technologies were useful in obtaining informed consent from the patient, promoting 3-D morphological understanding, and facilitating simulation of endodontic treatment.

  12. Localization of ectopic and supernumerary parathyroid glands in patients with secondary and tertiary hyperparathyroidism: surgical description and correlation with preoperative ultrasonography and Tc99m-Sestamibi scintigraphy.

    Science.gov (United States)

    Andrade, José Santos Cruz de; Mangussi-Gomes, João Paulo; Rocha, Lillian Andrade da; Ohe, Monique Nakayama; Rosano, Marcello; das Neves, Murilo Catafesta; Santos, Rodrigo de Oliveira

    2014-01-01

    Hyperparathyroidism is an expected metabolic consequence of chronic kidney disease (CKD). Ectopic and/or supernumerary parathyroid glands (PT) may be the cause of surgical failure in patients undergoing total parathyroidectomy (PTX). To define the locations of ectopic and supernumerary PT in patients with renal hyperparathyroidism and to correlate intraoperative findings with preoperative tests. A retrospective study was conducted with 166 patients submitted to PTX. The location of PT during surgery was recorded and classified as eutopic or ectopic. The preoperative localizations of PT found by ultrasonography (USG) and Tc99m-Sestamibi scintigraphy (MIBI) were subsequently compared with intraoperative findings. In the 166 patients studied, 664 PT were found. Five-hundred-seventy-seven (86.4%) glands were classified as eutopic and 91(13.6%) as ectopic. Eight supernumerary PT were found. The most common sites of ectopic PT were in the retroesophageal and thymic regions. Taken together, USG and MIBI did not identify 56 (61.5%) ectopic glands. MIBI was positive for 69,7% of all ectopic glands located in the mediastinal and thymic regions. The presence of ectopic and supernumerary PT in patients with renal hyperparathyroidism is significant. Although preoperative imaging tests did not locate most of ectopic glands, MIBI may be important for identifying ectopic PT in the mediastinal and thymic regions.

  13. EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells.

    Science.gov (United States)

    Niethamer, Terren K; Larson, Andrew R; O'Neill, Audrey K; Bershteyn, Marina; Hsiao, Edward C; Klein, Ophir D; Pomerantz, Jason H; Bush, Jeffrey O

    2017-03-14

    Although human induced pluripotent stem cells (hiPSCs) hold great potential for the study of human diseases affecting disparate cell types, they have been underutilized in seeking mechanistic insights into the pathogenesis of congenital craniofacial disorders. Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder caused by mutations in EFNB1 and characterized by craniofacial, skeletal, and neurological anomalies. Heterozygous females are more severely affected than hemizygous males, a phenomenon termed cellular interference that involves mosaicism for EPHRIN-B1 function. Although the mechanistic basis for cellular interference in CFNS has been hypothesized to involve Eph/ephrin-mediated cell segregation, no direct evidence for this has been demonstrated. Here, by generating hiPSCs from CFNS patients, we demonstrate that mosaicism for EPHRIN-B1 expression induced by random X inactivation in heterozygous females results in robust cell segregation in human neuroepithelial cells, thus supplying experimental evidence that Eph/ephrin-mediated cell segregation is relevant to pathogenesis in human CFNS patients. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  14. Excessive astrocyte-derived neurotrophin-3 contributes to the abnormal neuronal dendritic development in a mouse model of fragile X syndrome.

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    Qi Yang

    Full Text Available Fragile X syndrome (FXS is a form of inherited mental retardation in humans that results from expansion of a CGG repeat in the Fmr1 gene. Recent studies suggest a role of astrocytes in neuronal development. However, the mechanisms involved in the regulation process of astrocytes from FXS remain unclear. In this study, we found that astrocytes derived from a Fragile X model, the Fmr1 knockout (KO mouse which lacks FMRP expression, inhibited the proper elaboration of dendritic processes of neurons in vitro. Furthermore, astrocytic conditioned medium (ACM from KO astrocytes inhibited proper dendritic growth of both wild-type (WT and KO neurons. Inducing expression of FMRP by transfection of FMRP vectors in KO astrocytes restored dendritic morphology and levels of synaptic proteins. Further experiments revealed elevated levels of the neurotrophin-3 (NT-3 in KO ACM and the prefrontal cortex of Fmr1 KO mice. However, the levels of nerve growth factor (NGF, brain-derived neurotrophic factor (BDNF, glial cell-derived neurotrophic factor (GDNF, and ciliary neurotrophic factor (CNTF were normal. FMRP has multiple RNA-binding motifs and is involved in translational regulation. RNA-binding protein immunoprecipitation (RIP showed the NT-3 mRNA interacted with FMRP in WT astrocytes. Addition of high concentrations of exogenous NT-3 to culture medium reduced the dendrites of neurons and synaptic protein levels, whereas these measures were ameliorated by neutralizing antibody to NT-3 or knockdown of NT-3 expression in KO astrocytes through short hairpin RNAs (shRNAs. Prefrontal cortex microinjection of WT astrocytes or NT-3 shRNA infected KO astrocytes rescued the deficit of trace fear memory in KO mice, concomitantly decreased the NT-3 levels in the prefrontal cortex. This study indicates that excessive NT-3 from astrocytes contributes to the abnormal neuronal dendritic development and that astrocytes could be a potential therapeutic target for FXS.

  15. Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS).

    Science.gov (United States)

    Kohlschmidt, N; Zielinski, J; Brude, E; Schäfer, D; Olert, J; Hallermann, C; Coerdt, W; Arnemann, J

    2000-02-01

    Wolf-Hirschhorn Syndrome (WHS) is caused by distal deletion of the short arm of chromosome 4 and is characterized by growth deficiency, mental retardation, a distinctive, 'greek-helmet' facial appearance, microcephaly, ear lobe anomalies, and sacral dimples. We report a family with a balanced chromosomal translocation 4;18(p15.32;p11.21) in the father and an unbalanced translocation resulting in partial monosomy 4 and partial trisomy 18 in one living boy and a prenatally diagnosed male fetus. Both showed abnormalities consistent with WHS and had in addition aplasia of one umbilical artery. Karyotyping of another stillborn fetus revealed a supernumerary derivative chromosome der(18)t(4;18)(p15.32;p11.21) of paternal origin and two normal chromosomes 4. The umbilical cord had three normal vessels. A third stillborn fetus with the same balanced translocation as the father had a single umbilical artery and hygroma colli. Copyright 2000 John Wiley & Sons, Ltd.

  16. Association of Vitamin E Levels with Metabolic Syndrome, and MRI-Derived Body Fat Volumes and Liver Fat Content

    Directory of Open Access Journals (Sweden)

    Sabina Waniek

    2017-10-01

    Full Text Available We aimed to relate circulating α- and γ-tocopherol levels to a broad spectrum of adiposityrelated traits in a cross-sectional Northern German study. Anthropometric measures were obtained, and adipose tissue volumes and liver fat were quantified by magnetic resonance imaging in 641 individuals (mean age 61 years; 40.6% women. Concentrations of α- and γ-tocopherol were measured using high performance liquid chromatography. Multivariable-adjusted linear and logistic regression were used to assess associations of circulating α- and γ-tocopherol/cholesterol ratio levels with visceral (VAT and subcutaneous adipose tissue (SAT, liver signal intensity (LSI, fatty liver disease (FLD, metabolic syndrome (MetS, and its individual components. The α- tocopherol/cholesterol ratio was positively associated with VAT (β scaled by interquartile range (IQR: 0.036; 95%Confidence Interval (CI: 0.0003; 0.071 and MetS (Odds Ratio (OR: 1.83; 95% CI: 1.21–2.76 for 3rd vs. 1st tertile, and the γ-tocopherol/cholesterol ratio was positively associated with VAT (β scaled by IQR: 0.066; 95% CI: 0.027; 0.104, SAT (β scaled by IQR: 0.048; 95% CI: 0.010; 0.087 and MetS (OR: 1.87; 95% CI: 1.23–2.84 for 3rd vs. 1st tertile. α- and γ-tocopherol levels were positively associated with high triglycerides and low high density lipoprotein cholesterol levels (all Ptrend < 0.05. No association of α- and γ-tocopherol/cholesterol ratio with LSI/FLD was observed. Circulating vitamin E levels displayed strong associations with VAT and MetS. These observations lay the ground for further investigation in longitudinal studies.

  17. Erythromyeloid-Derived TREM2: A Major Determinant of Alzheimer’s Disease Pathology in Down Syndrome

    Science.gov (United States)

    Raha-Chowdhury, Ruma; Henderson, James W.; Raha, Animesh Alexander; Stott, Simon R.W.; Vuono, Romina; Foscarin, Simona; Wilson, Liam; Annus, Tiina; Fincham, Robert; Allinson, Kieren; Devalia, Vinod; Friedland, Robert P.; Holland, Anthony; Zaman, Shahid H.

    2017-01-01

    Background: Down syndrome (DS; trisomy 21) individuals have a spectrum of hematopoietic and neuronal dysfunctions and by the time they reach the age of 40 years, almost all develop Alzheimer’s disease (AD) neuropathology which includes senile plaques and neurofibrillary tangles. Inflammation and innate immunity are key players in AD and DS. Triggering receptor expressed in myeloid cells-2 (TREM2) variants have been identified as risk factors for AD and other neurodegenerative diseases. Objective: To investigate the effects of TREM2 and the AD-associated R47H mutation on brain pathology and hematopoietic state in AD and DS. Methods: We analyzed peripheral blood, bone marrow, and brain tissue from DS, AD, and age-matched control subjects by immunohistochemistry and western blotting. TREM2-related phagocytosis was investigated using a human myeloid cell line. Results: TREM2 protein levels in brain and sera declined with age and disease progression in DS. We observed soluble TREM2 in brain parenchyma that may be carried by a subset of microglia, macrophages, or exosomes. Two DS cases had the AD-associated TREM2-R47H mutation, which manifested a morphologically extreme phenotype of megakaryocytes and erythrocytes in addition to impaired trafficking of TREM2 to the erythroid membrane. TREM2 was shown to be involved in phagocytosis of red blood cells. TREM2 was seen in early and late endosomes. Silencing TREM2 using siRNA in THP1 cells resulted in significant cell death. Conclusion: We provide evidence that peripheral TREM2 originating from erythromyeloid cells significantly determines AD neuropathology in DS subjects. Understanding the molecular signaling pathways mediated by TREM2 may reveal novel therapeutic targets. PMID:29278889

  18. Cat-eye syndrome with unusual marker chromosome probably not chromosome 22.

    Science.gov (United States)

    Rosenfeld, W; Verma, R S; Jhaveri, R C

    1984-05-01

    An unusual supernumerary chromosome with a single satellite on the long arm was found in a child with manifestations of the cat-eye syndrome including apparently low-set and malformed ears, preauricular tags, micrognathia, and imperforate anus. Although G-banding suggested that this extra material was chromosome 22, this was not confirmed by several other banding techniques. After examination of the parents' chromosomes, the nature and origin of this extra chromosome remains obscure. We conclude that patients previously diagnosed as having "partial trisomy 22" with incomplete cat-eye syndrome may have a different chromosome constitution when studied by various banding techniques.

  19. Therapeutic effects of human umbilical cord blood-derived mesenchymal stem cells on the radiation-induced GI syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Shim, Se Hwan; Jang, Won Suk; Lee, Sun Joo; Park, Eun Young; Kim, Youn Joo; Jin, Sung Ho; Park, Sun Hoo; Lee, Seung Sook [Korea Institute of Radiological and Medical Sciences, Seoul (Korea, Republic of)

    2011-05-15

    The gastrointestinal (GI) tract is one of the most radiosensitive organ systems in the body. Radiation-induced GI injury is described as destruction of crypt cell, decrease in villous height and number, ulceration, and necrosis of intestinal epithelium. Studies show that mesenchymal stem cells (MSCs) treatment may be useful in the repair or regeneration of damaged organs including bone, cartilage, or myocardium. MSCs from umbilical cord blood (UCB) have many advantages because of the immature nature of newborn cells compared to bone marrow derived MSCs. Moreover, UCB-MSCs provide no ethical barriers for basic studies and clinical applications. In this study, we explore the regeneration capability of human UCB-MSCs after radiation-induced GI injury

  20. An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature.

    Science.gov (United States)

    Tzetis, Maria; Stefanaki, Kalliopi; Syrmou, Areti; Kosma, Konstantina; Leze, Eleni; Giannikou, Krinio; Oikonomakis, Vasilis; Sofocleous, Christalena; Choulakis, Michael; Kolialexi, Aggeliki; Makrythanasis, Periklis; Kitsiou-Tzeli, Sophia

    2012-07-01

    BACKGROUND Cat-Eye syndrome (CES) with teratoma has not been previously reported. We present the clinical and molecular findings of a 9-month-old girl with features of CES and also a palpable midline neck mass proved to be an extragonadal mature teratoma, additionally characterized by array comparative genomic hybridization (aCGH). RESULTS High resolution oligonucleotide-based aCGH confirmed that the supernumerary marker chromosome (SMC) derived from chromosome 22, as was indicated by molecular cytogenetic analysis with fluorescence in situ hybridization (FISH). Additionally, aCGH clarified the size, breakpoints, and gene content of the duplication (dup 22q11.1q11.21; size:1.6 Mb; breakpoints: 15,438,946-17,041,773; hg18). The teratoma tissue was also tested with aCGH, in which the CES duplication was not found, but the analysis revealed three aberrations: del Xp22.3 (108,864-2788,689; 2.7 Mb hg18), dup Yp11.2 (6688,491-7340,982; 0.65 Mb, hg18), and dup Yq11.2q11.23 (12,570,853-27,177,133; 14.61 Mb, hg18). These results indicated 46 XY (male) karyotype of the teratoma tissue, making this the second report of mature extragonadal teratoma in a female neonate, probably deriving from an included dizygotic twin of opposite sex (fetus in fetu). CONCLUSIONS Our findings extend the phenotypic spectrum of CES syndrome, a disorder with clinical variability, pointing out specific dosage-sensitive genes that might contribute to specific phenotypic features. Copyright © 2012 Wiley Periodicals, Inc.

  1. Clinical studies on the ex-vivo expansion of autologous adipose derived stem cells for the functional reconstruction of mucous membrane in empty nose syndrome

    Directory of Open Access Journals (Sweden)

    Liang LI

    2014-10-01

    Full Text Available Objective To analyze and evaluate the feasibility and effectiveness of using autologous adipose derived stem cells (ASCs for rebuilding the function of nasal mucosa in patients with empty nose syndrome (ENS. Methods Autologous adipose tissue 15-20ml were obtained from each of 5 ENS patients admitted from Aug. 2013 to Feb. 2014, and from which stem cells were isolated, cultured and expanded in vitro. The phenotype, differentiation, and genetic stability of the third generation of amplified stem cells were identified. For the patients with rudimental turbinate (n=3, ASCs were injected into the damaged nasal mucosa for 4 times (once every 10 days. For the patients with no rudimental turbinate (n=2, autologous pure fat granules 1-5ml were extracted after 3 times of ASCs injection into the damaged nasal mucosa, and mixed with the 3rd-6th generation of ASCs for inferior or middle nasal turbinate angioplasty. Nasal endoscopic examination was performed before treatment and 3, 6 and 9 months after treatment for comparison, and the data of SNOT-20 questionnaire, nasality resistance and nasal mucociliary clearance action were statistically analyzed. Results With injection transplantation of the 3rd-6th generation of ASCs in 2 patients with no rudimental turbinate, and 3, 6 and 9 months after the combined ASCs and fat granules transplantation in 3 patients with rudimental turbinate, nasal endoscopy showed that no obvious absorption in conchoplasty, nasal mucosa was improved significantly, and same as SNOT-20 scores, with statistically significant difference (P0.05. Conclusions The reconstruction of mucosa function by nasal turbinate angioplasty combined with adipose derived stem cells and autologous adipose transplantation may significantly improve the symptoms in patients with ENS with lasting effects. It is a new procedure which is helpful for the mucosal repair in patients with ENS. DOI: 10.11855/j.issn.0577-7402.2014.10.11

  2. Toward Personalized Medicine: Using Cardiomyocytes Differentiated From Urine-Derived Pluripotent Stem Cells to Recapitulate Electrophysiological Characteristics of Type 2 Long QT Syndrome.

    Science.gov (United States)

    Jouni, Mariam; Si-Tayeb, Karim; Es-Salah-Lamoureux, Zeineb; Latypova, Xenia; Champon, Benoite; Caillaud, Amandine; Rungoat, Anais; Charpentier, Flavien; Loussouarn, Gildas; Baró, Isabelle; Zibara, Kazem; Lemarchand, Patricia; Gaborit, Nathalie

    2015-09-01

    Human genetically inherited cardiac diseases have been studied mainly in heterologous systems or animal models, independent of patients' genetic backgrounds. Because sources of human cardiomyocytes (CMs) are extremely limited, the use of urine samples to generate induced pluripotent stem cell-derived CMs would be a noninvasive method to identify cardiac dysfunctions that lead to pathologies within patients' specific genetic backgrounds. The objective was to validate the use of CMs differentiated from urine-derived human induced pluripotent stem (UhiPS) cells as a new cellular model for studying patients' specific arrhythmia mechanisms. Cells obtained from urine samples of a patient with long QT syndrome who harbored the HERG A561P gene mutation and his asymptomatic noncarrier mother were reprogrammed using the episomal-based method. UhiPS cells were then differentiated into CMs using the matrix sandwich method.UhiPS-CMs showed proper expression of atrial and ventricular myofilament proteins and ion channels. They were electrically functional, with nodal-, atrial- and ventricular-like action potentials recorded using high-throughput optical and patch-clamp techniques. Comparison of HERG expression from the patient's UhiPS-CMs to the mother's UhiPS-CMs showed that the mutation led to a trafficking defect that resulted in reduced delayed rectifier K(+) current (IKr). This phenotype gave rise to action potential prolongation and arrhythmias. UhiPS cells from patients carrying ion channel mutations can be used as novel tools to differentiate functional CMs that recapitulate cardiac arrhythmia phenotypes. © 2015 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  3. Autologous fat graft and bone marrow-derived mesenchymal stem cells assisted fat graft for treatment of Parry-Romberg syndrome.

    Science.gov (United States)

    Jianhui, Zhao; Chenggang, Yi; Binglun, Lu; Yan, Han; Li, Yang; Xianjie, Ma; Yingjun, Su; Shuzhong, Guo

    2014-09-01

    Progressive facial hemiatrophy, also called Parry-Romberg syndrome (PRS), is characterized by slowly progressive atrophy of one side of the face and primarily involves the subcutaneous tissue and fat. The restoration of facial contour and symmetry in patients affected by PRS still remains a challenge clinically. Fat graft is a promising treatment but has some shortcomings, such as unpredictability and low rate of graft survival due to partial necrosis. To obviate these disadvantages, fat graft assisted by bone marrow-derived mesenchymal stem cells (BMSCs) was used to treat PRS patients and the outcome was evaluated in comparison with the conventional treatment by autologous fat graft. Autologous fat graft was harvested by tumescent liposuction. Bone marrow-derived mesenchymal stem cells were then isolated by human Lymphocytes Separation Medium through density gradient centrifugation. Twenty-six patients were treated with autologous fat graft only (group A), whereas 10 other patients were treated with BMSC-assisted fat graft (group B). The Coleman technique was applied in all fat graft injections. The follow-up period was 6 to 12 months in this study, In group A, satisfactory outcome judged by symmetrical appearances was obtained with 1 injection in 12 patients, 2 injections in 8 patients, and 3 injections in 4 patients. However, the result of 1 patient was not satisfactory and 1 patient was overcorrected. In group B, 10 patients obtained satisfactory outcomes and almost reached symmetry by 1 injection. No complications (infection, hematoma, or subcutaneous mass) were observed. The results suggest that BMSC-assisted fat graft is effective and safe for soft tissue augmentation and may be superior to conventional lipoinjection. Additional study is necessary to further evaluate the efficacy of this technique.

  4. Revascularization of an impacted, immature dilacerated permanent maxillary central incisor associated with odontoma and a supernumerary tooth

    Directory of Open Access Journals (Sweden)

    Priya Subramaniam

    2013-01-01

    Full Text Available To intentionally replant an impacted immature permanent maxillary central incisor in the mixed dentition period followed by revascularization in order to achieve apical root closure. A 9-year-old boy presented with retained maxillary left primary incisors. Radiographic evaluation revealed the presence of a supernumerary tooth and an odontoma associated with an impacted permanent maxillary left central incisor, having root dilaceration. Treatment included surgical removal of mesiodens and odontoma. The impacted dilacerated permanent central incisor was removed and intentionally replanted, followed by revascularization of pulp. During the follow-up, root end closure with narrowing of canal space was observed, patient has been asymptomatic and the tooth remains vital. Revascularization of the immature reimplanted tooth showed continued root development and thickening of the lateral dentinal walls through deposition of new hard tissue and narrowing of the canal space.

  5. Urolithins are the main urinary microbial-derived phenolic metabolites discriminating a moderate consumption of nuts in free-living subjects with diagnosed metabolic syndrome.

    Science.gov (United States)

    Tulipani, Sara; Urpi-Sarda, Mireia; García-Villalba, Rocío; Rabassa, Montserrat; López-Uriarte, Patricia; Bulló, Mònica; Jáuregui, Olga; Tomás-Barberán, Francisco; Salas-Salvadó, Jordi; Espín, Juan Carlos; Andrés-Lacueva, Cristina

    2012-09-12

    Walnuts ( Juglans regia L.), hazelnuts ( Corylus avellana L.), and almonds ( Prunus dulcis Mill.) are rich sources of ellagitannins and proanthocyanidins. Gut microbiota plays a crucial role in modulating the bioavailability of these high molecular weight polyphenols. However, to date there are no studies evaluating the capacity to produce nut phenolic metabolites in subjects with metabolic syndrome (MetS), a pathology associated with an altered gut bacterial diversity. This study applied a LC-MS targeted approach to analyze the urinary excretion of nut phenolic metabolites in MetS subjects following 12 weeks of nut consumption, compared to sex- and age-matched individuals given a nut-free control diet. Metabolites were targeted in both hydrolyzed and nonhydrolyzed urine by LC-PDA-QqQ-MS/MS analysis, and identification of metabolites lacking available standards was confirmed by LC-ESI-ITD-FT-MS. Ellagitannin-derived urolithins A and B significantly increased after the nut-enriched-diet, urolithins C and D were also detected, and a complex combination of urolithin-conjugated forms was observed in nonhydrolyzed urine, confirming an extensive phase II metabolism after absorption. In contrast, no significant increases in proanthocyanidin microbial metabolites were observed in urine following nut consumption. Because the intestinal microbiota of the subjects in this study could catabolize ellagitannins into a wide range of urolithins, further research is strongly warranted on the in vivo potential of these microbial metabolites in reducing cardiometabolic risk.

  6. Relationship between body weight and the increment in serum brain-derived neurotrophic factor after oral glucose challenge in men with obesity and metabolic syndrome: A prospective study.

    Science.gov (United States)

    Lee, I-Te; Wang, Jun-Sing; Fu, Chia-Po; Lin, Shih-Yi; Sheu, Wayne Huey-Herng

    2016-10-01

    Brain-derived neurotrophic factor (BDNF) plays a role in energy homeostasis. However, the postprandial BDNF change has not been well investigated. We hypothesized that the BDNF increment after oral glucose challenge is associated with body weight.To address this possibility, man adults with obesity in conjunction with metabolic syndrome were compared with normal weight controls at baseline in the initial cross-sectional protocol. The obese subjects then underwent a 12-week program for body-weight reduction in the prospective protocol. The area under the curve (AUC) of serum BDNF was recorded during a 75 g oral glucose tolerant test and the BDNF AUC index was defined as [(AUC of BDNF) - (fasting BDNF2 hours)]/(fasting BDNF2 hours).A total of 25 controls and 36 obese subjects completed the study assessments. In the cross-sectional protocol, the BDNF AUC index was significantly higher in the obese subjects than in the controls (9.0 ± 16.5% vs. - 8.0 ± 22.5%, P = 0.001). After weight reduction (from 97.0 ± 12.5 kg to 88.6 ± 12.9 kg, P obese men in this study, whereas the index value significantly decreased after body-weight reduction. These findings suggest that postprandial BDNF increment may be associated with obesity.

  7. Potential mechanisms of effects of serum-derived bovine immunoglobulin/protein isolate therapy in patients with diarrhea-predominant irritable bowel syndrome.

    Science.gov (United States)

    Valentin, Nelson; Camilleri, Michael; Carlson, Paula; Harrington, Sean C; Eckert, Deborah; O'Neill, Jessica; Burton, Duane; Chen, Jun; Shaw, Audrey L; Acosta, Andres

    2017-03-01

    Serum-derived bovine immunoglobulin/protein isolate (SBI), an oral nutritional therapy, is efficacious in diverse diarrheal diseases. In an open-label study in 15 patients with irritable bowel syndrome-diarrhea (IBS-D), we evaluated effects of SBI (5.0 g, twice a day) for 8 weeks on safety, on bowel function and abdominal pain, tryptophan metabolism (K:T ratio), intestinal permeability ( 13 C-mannitol and lactulose excretion), bile acid synthesis (fasting serum FGF-19 and C4), duodenal and stool microbiome, and the expression of 90 genes related to inflammation, immune function, and tight junctions in duodenal mucosa. Statistical analysis (paired tests, baseline vs. treatment) was based on intention to treat (ITT) principles. One of 15 Caucasian patients (13F, 2M, age 40.3 ± 2.3y, BMI 34.3 ± 3.0 kg/m 2 ) withdrew without completing studies. There were improvements in stools/day (decrease, P  D patients is associated with improved bowel function; the mechanism of benefit is unclear, though there were microbiota structure differences in duodenal brushings. Further studies in patients with low-grade inflammation and intestinal barrier dysfunction at baseline are indicated. © 2017 The Authors. Physiological Reports published by Wiley Periodicals, Inc. on behalf of The Physiological Society and the American Physiological Society.

  8. Resequencing DCDC5 in the Flanking Region of an LD-SNP Derived from a Kidney-Yang Deficiency Syndrome Family

    Directory of Open Access Journals (Sweden)

    Li Ping Zhou

    2011-01-01

    Full Text Available Objective. To explore the genetic traits of Kidney-yang deficiency syndrome (KDS. Design. Twelve KDS subjects and three spouses from a typical KDS family were recruited. Their genomic DNA samples were genotyped by Affymetrix 100K single-nucleotide polymorphism (SNP arrays. The linkage disequilibrium (LD SNPs were generated using GeneChip DNA analysis software (GDAS, Affymetrix. Genes located within 100 bp of the flanks of LD SNPs were mined via GeneView. 29 exons of the doublecortin domain containing 5 (DCDC5, a representative gene within the flank of an LD SNP, were resequenced. Results. Five LD SNPs display midrange linkage with KDS. Two genes with established functions, DCDC5 and Leucyl-tRNA synthetase, were mined in the flanks of LD SNPs. Resequencing of DCDC5 revealed a nonsynonymous variation, in which 3764T/A was replaced by C/G. Accordingly, the Ser1172 was substituted by Pro1172. The S1172P substitution effect was evaluated as “possibly damaging” by PolyPhen. Conclusion. We have identified a genomic variation of DCDC5 based on the LD SNPs derived from a KDS family. DCDC5 and other genes surrounding these SNPs display some relationships with key symptoms of KDS.

  9. High-Throughput Screening Using iPSC-Derived Neuronal Progenitors to Identify Compounds Counteracting Epigenetic Gene Silencing in Fragile X Syndrome.

    Science.gov (United States)

    Kaufmann, Markus; Schuffenhauer, Ansgar; Fruh, Isabelle; Klein, Jessica; Thiemeyer, Anke; Rigo, Pierre; Gomez-Mancilla, Baltazar; Heidinger-Millot, Valerie; Bouwmeester, Tewis; Schopfer, Ulrich; Mueller, Matthias; Fodor, Barna D; Cobos-Correa, Amanda

    2015-10-01

    Fragile X syndrome (FXS) is the most common form of inherited mental retardation, and it is caused in most of cases by epigenetic silencing of the Fmr1 gene. Today, no specific therapy exists for FXS, and current treatments are only directed to improve behavioral symptoms. Neuronal progenitors derived from FXS patient induced pluripotent stem cells (iPSCs) represent a unique model to study the disease and develop assays for large-scale drug discovery screens since they conserve the Fmr1 gene silenced within the disease context. We have established a high-content imaging assay to run a large-scale phenotypic screen aimed to identify compounds that reactivate the silenced Fmr1 gene. A set of 50,000 compounds was tested, including modulators of several epigenetic targets. We describe an integrated drug discovery model comprising iPSC generation, culture scale-up, and quality control and screening with a very sensitive high-content imaging assay assisted by single-cell image analysis and multiparametric data analysis based on machine learning algorithms. The screening identified several compounds that induced a weak expression of fragile X mental retardation protein (FMRP) and thus sets the basis for further large-scale screens to find candidate drugs or targets tackling the underlying mechanism of FXS with potential for therapeutic intervention. © 2015 Society for Laboratory Automation and Screening.

  10. The origin of the supernumerary subunits and assembly factors of complex I: A treasure trove of pathway evolution.

    Science.gov (United States)

    Elurbe, Dei M; Huynen, Martijn A

    2016-07-01

    We review and document the evolutionary origin of all complex I assembly factors and nine supernumerary subunits from protein families. Based on experimental data and the conservation of critical residues we identify a spectrum of protein function conservation between the complex I representatives and their non-complex I homologs. This spectrum ranges from proteins that have retained their molecular function but in which the substrate specificity may have changed or have become more specific, like NDUFAF5, to proteins that have lost their original molecular function and critical catalytic residues like NDUFAF6. In between are proteins that have retained their molecular function, which however appears unrelated to complex I, like ACAD9, or proteins in which amino acids of the active site are conserved but for which no enzymatic activity has been reported, like NDUFA10. We interpret complex I evolution against the background of molecular evolution theory. Complex I supernumerary subunits and assembly factors appear to have been recruited from proteins that are mitochondrial and/or that are expressed when complex I is active. Within the evolution of complex I and its assembly there are many cases of neofunctionalization after gene duplication, like ACAD9 and TMEM126B, one case of subfunctionalization: ACPM1 and ACPM2 in Yarrowia lipolytica, and one case in which a complex I protein itself appears to have been the source of a new protein from another complex: NDUFS6 gave rise to cytochrome c oxidase subunit COX4/COX5b. Complex I and its assembly can therewith be regarded as a treasure trove for pathway evolution. This article is part of a Special Issue entitled Respiratory complex I, edited by Volker Zickermann and Ulrich Brandt. Copyright © 2016 Elsevier B.V. All rights reserved.

  11. Rainbows, supernumerary rainbows and interference effects in the angular scattering of chemical reactions: an investigation using Heisenberg's S matrix programme.

    Science.gov (United States)

    Shan, Xiao; Xiahou, Chengkui; Connor, J N L

    2018-01-03

    In earlier research, we have demonstrated that broad "hidden" rainbows can occur in the product differential cross sections (DCSs) of state-to-state chemical reactions. Here we ask the question: can pronounced and localized rainbows, rather than broad hidden ones, occur in reactive DCSs? Further motivation comes from recent measurements by H. Pan and K. Liu, J. Phys. Chem. A, 2016, 120, 6712, of a "bulge" in a reactive DCS, which they conjecture is a rainbow. Our theoretical approach uses a "weak" version of Heisenberg's scattering matrix program (wHSMP) introduced by X. Shan and J. N. L. Connor, Phys. Chem. Chem. Phys., 2011, 13, 8392. This wHSMP uses four general physical principles for chemical reactions to suggest simple parameterized forms for the S matrix; it does not employ a potential energy surface. We use a parameterization in which the modulus of the S matrix is a smooth-step function of the total angular momentum quantum number, J, and (importantly) its phase is a cubic polynomial in J. We demonstrate for a Legendre partial wave series (PWS) the existence of pronounced rainbows, supernumerary rainbows, and other interference effects, in reactive DCSs. We find that reactive rainbows can be more complicated in their structure than the familiar rainbows of elastic scattering. We also analyse the angular scattering using Nearside-Farside (NF) PWS theory and NF PWS Local Angular Momentum (LAM) theory, including resummations of the PWS. In addition, we apply full and NF asymptotic (semiclassical) rainbow theories to the PWS - in particular, the uniform Airy and transitional Airy approximations for the farside scattering. This lets us prove that structure in the DCSs are indeed rainbows, supernumerary rainbows as well as other interference effects.

  12. Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts

    Energy Technology Data Exchange (ETDEWEB)

    Koh, Kwang Joon; Park, Ha Na; Kim, Kyoung A [Dept. of Oral and Maxillofacial Radiology, School of Dentistry and Institute of Oral Bioscience, Chonbuk National University, Jeonju (Korea, Republic of)

    2016-12-15

    Gardner syndrome is known as a variant of familial adenomatous polyposis. This syndrome is characterized by multiple intestinal polyposes, osteomas, and epidermoid cysts. In addition, dental abnormalities include an increased frequency of multiple odontomas, as well as supernumerary and impacted teeth. The authors report the case of a 7-year-old male patient with Gardner syndrome. Radiographic findings revealed multiple osteomas in both sides of the maxilla, multiple diffuse enostoses in both jaws, and a complex odontoma in the left mandibular body. Two years later, multiple epidermoid cysts on the scalp were found. Since this patient was suspected to have Gardner syndrome, the authors recommended gastrointestinal endoscopy to check for intestinal polyposis. Gastrointestinal endoscopic examination revealed multiple polyposes in the upper gastrointestinal tract and fundus of the stomach. As a result, the final diagnosis was Gardner syndrome.

  13. Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts

    International Nuclear Information System (INIS)

    Koh, Kwang Joon; Park, Ha Na; Kim, Kyoung A

    2016-01-01

    Gardner syndrome is known as a variant of familial adenomatous polyposis. This syndrome is characterized by multiple intestinal polyposes, osteomas, and epidermoid cysts. In addition, dental abnormalities include an increased frequency of multiple odontomas, as well as supernumerary and impacted teeth. The authors report the case of a 7-year-old male patient with Gardner syndrome. Radiographic findings revealed multiple osteomas in both sides of the maxilla, multiple diffuse enostoses in both jaws, and a complex odontoma in the left mandibular body. Two years later, multiple epidermoid cysts on the scalp were found. Since this patient was suspected to have Gardner syndrome, the authors recommended gastrointestinal endoscopy to check for intestinal polyposis. Gastrointestinal endoscopic examination revealed multiple polyposes in the upper gastrointestinal tract and fundus of the stomach. As a result, the final diagnosis was Gardner syndrome

  14. Goldenhar syndrome

    African Journals Online (AJOL)

    operational on the derivatives of the first and second bran- chial arches and clefts before the end of the organogenetic period (7'h or 8'h week of embryonic life)? ..... Marshman WE, Schalit G, Jones RB, Lee JP, Mathews TD and McCabe S: Congenital anomalies in patients with Duane retraction syndrome and their relatives.

  15. Supernumerary inv dup (15) in a patient with Angelman syndome and a deletion of 15q11-q13

    Energy Technology Data Exchange (ETDEWEB)

    Spinner, N.B.; Zackai, E. [Children`s Hospital of Philadelphia, PA (United States); Knoll, J.H.M. [Harvard Medical School, Boston, MA (United States)] [and others

    1995-05-22

    We have studied a patient with Angelman syndrome (AS) and a 47,XY,+inv dup(15) (pter{r_arrow}q11::q11{r_arrow}pter) karyotype. Molecular cytogenetic studies demonstrated that one of the apparently normal 15s was deleted at loci D15S9, GABRB3, and D15S12. There were no additional copies of these loci on the inv dup(15). The inv dup(15) contained only the pericentromeric sequence D15Z1. Quantitative DNA analysis confirmed these findings and documented a standard large deletion of sequences from 15q11-q13, as usually seen in patients with AS. DNA methylation testing at D15S63 showed a deletion of the maternally derived chromosome. AS in this patient can be explained by the absence of DNA sequences from chromosome 15q11-q13 on one of the apparently cytogenetically normal 15s, and not by the presence of an inv dup(15). This is the fourth patient with an inv dup(15) and AS or Prader Willi syndrome, who has been studied at the molecular level. In all cases an additional alteration of chromosome 15 was identified, which was hypothesized to be the cause of the disease. Patients with inv dup(15)s may be at increased risk for other chromosome abnormalities involving 15q11-q13. 29 refs., 3 figs.

  16. Management of Developing Anterior Malocclusion due to SupernumeraryTooth with Preventive and Intercep-tive Approach: A 1½ Year Case Study

    Science.gov (United States)

    Kambalimath, HV; Banda, Naveen Reddy

    2010-01-01

    ABSTRACT Variety of clinical complications occurs due to the presence of supernumerary teeth, especially mesiodens. It may result in impaction of one or both central incisors which in turn may lead to a variety of malocclusions. Timely intervention not only prevents malocclusion but also the time taken for corrective orthodontics. A complete case report of developing mesiodens’ tooth germ resulting in malocclusion including treatment in 1½ year period is presented. PMID:27507922

  17. Boosting in planta production of antigens derived from the porcine reproductive and respiratory syndrome virus (PRRSV and subsequent evaluation of their immunogenicity.

    Directory of Open Access Journals (Sweden)

    Robin Piron

    Full Text Available Porcine reproductive and respiratory syndrome (PRRS is a disease of swine, caused by an arterivirus, the PRRS virus (PRRSV. This virus infects pigs worldwide and causes huge economic losses. Due to genetic drift, current vaccines are losing their power. Adaptable vaccines could provide a solution to this problem. This study aims at producing in planta a set of antigens derived from the PRRSV glycoproteins (GPs to be included in a subunit vaccine. We selected the GP3, GP4 and GP5 and optimized these for production in an Arabidopsis seed platform by removing transmembrane domains (Tm and/or adding stabilizing protein domains, such as the green fluorescent protein (GFP and immunoglobulin (IgG 'Fragment crystallizable' (Fc chains. Accumulation of the GPs with and without Tm was low, reaching no more than 0.10% of total soluble protein (TSP in homozygous seed. However, addition of stabilizing domains boosted accumulation up to a maximum of 2.74% of TSP when GFP was used, and albeit less effectively, also the Fc chains of the porcine IgG3 and murine IgG2a increased antigen accumulation, to 0.96% and 1.81% of TSP respectively, while the murine IgG3 Fc chain did not. Antigens with Tm were less susceptible to these manipulations to increase yield. All antigens were produced in the endoplasmic reticulum and accordingly, they carried high-mannose N-glycans. The immunogenicity of several of those antigens was assessed and we show that vaccination with purified antigens did elicit the production of antibodies with virus neutralizing activity in mice but not in pigs.

  18. Decrease of urinary nerve growth factor but not brain-derived neurotrophic factor in patients with interstitial cystitis/bladder pain syndrome treated with hyaluronic acid.

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    Yuan-Hong Jiang

    Full Text Available To investigate urinary nerve growth factor (NGF and brain-derived neurotrophic factor (BDNF levels in interstitial cystitis/bladder pain syndrome (IC/BPS patients after hyaluronic acid (HA therapy.Thirty-three patients with IC/BPS were prospectively studied; a group of 45 age-matched healthy subjects served as controls. All IC/BPS patients received nine intravesical HA instillations during the 6-month treatment regimen. Urine samples were collected for measuring urinary NGF and BDNF levels at baseline and 2 weeks after the last HA treatment. The clinical parameters including visual analog scale (VAS of pain, daily frequency nocturia episodes, functional bladder capacity (FBC and global response assessment (GRA were recorded. Urinary NGF and BDNF levels were compared between IC/BPS patients and controls at baseline and after HA treatment.Urinary NGF, NGF/Cr, BDNF, and BDNF/Cr levels were significantly higher in IC/BPS patients compared to controls. Both NGF and NGF/Cr levels significantly decreased after HA treatment. Urinary NGF and NGF/Cr levels significantly decreased in the responders with a VAS pain reduction by 2 (both p < 0.05 and the GRA improved by 2 (both p < 0.05, but not in non-responders. Urinary BDNF and BDNF/Cr did not decrease in responders or non-responders after HA therapy.Urinary NGF, but not BDNF, levels decreased significantly after HA therapy; both of these factors remained higher than in controls even after HA treatment. HA had a beneficial effect on IC/BPS, but it was limited. The reduction of urinary NGF levels was significant in responders, with a reduction of pain and improved GRA.

  19. Ultrasound-Derived Abdominal Muscle Thickness Better Detects Metabolic Syndrome Risk in Obese Patients than Skeletal Muscle Index Measured by Dual-Energy X-Ray Absorptiometry.

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    Ayumi Ido

    Full Text Available Sarcopenia has never been diagnosed based on site-specific muscle loss, and little is known about the relationship between site-specific muscle loss and metabolic syndrome (MetS risk factors. To this end, this cross-sectional study aimed to investigate the relationship between site-specific muscle size and MetS risk factors. Subjects were 38 obese men and women aged 40-82 years. Total body fat and lean body mass were assessed by whole-body dual-energy X-ray absorptiometry (DXA scan. Muscle thickness (MTH was measured using B-mode ultrasound scanning in six body regions. Subjects were classified into general obesity (GO and sarcopenic obesity (SO groups using the threshold values of one standard deviation below the sex-specific means of either MTH or skeletal muscle index (SMI measured by DXA. MetS risk score was acquired by standardizing and summing the following continuously distributed variables: visceral fat area, mean blood pressure, HbA1c, and serum triglyceride / high density lipoprotein cholesterol, to obtain the Z-score. Multiple regression analysis revealed that the MetS risk score was independently associated with abdominal MTH in all subjects, but not with MTH in other muscle regions, including the thigh. Although HbA1c and the number of MetS risk factors in the SO group were significantly higher than those in the GO group, there were no significant differences between GO and SO groups as defined by SMI. Ultrasound-derived abdominal MTH would allow a better assessment of sarcopenia in obese patients and can be used as an alternative to the conventionally-used SMI measured by DXA.

  20. Decrease of Urinary Nerve Growth Factor but Not Brain-Derived Neurotrophic Factor in Patients with Interstitial Cystitis/Bladder Pain Syndrome Treated with Hyaluronic Acid

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    Jiang, Yuan-Hong; Liu, Hsin-Tzu; Kuo, Hann-Chorng

    2014-01-01

    Aims To investigate urinary nerve growth factor (NGF) and brain-derived neurotrophic factor (BDNF) levels in interstitial cystitis/bladder pain syndrome (IC/BPS) patients after hyaluronic acid (HA) therapy. Methods Thirty-three patients with IC/BPS were prospectively studied; a group of 45 age-matched healthy subjects served as controls. All IC/BPS patients received nine intravesical HA instillations during the 6-month treatment regimen. Urine samples were collected for measuring urinary NGF and BDNF levels at baseline and 2 weeks after the last HA treatment. The clinical parameters including visual analog scale (VAS) of pain, daily frequency nocturia episodes, functional bladder capacity (FBC) and global response assessment (GRA) were recorded. Urinary NGF and BDNF levels were compared between IC/BPS patients and controls at baseline and after HA treatment. Results Urinary NGF, NGF/Cr, BDNF, and BDNF/Cr levels were significantly higher in IC/BPS patients compared to controls. Both NGF and NGF/Cr levels significantly decreased after HA treatment. Urinary NGF and NGF/Cr levels significantly decreased in the responders with a VAS pain reduction by 2 (both p < 0.05) and the GRA improved by 2 (both p < 0.05), but not in non-responders. Urinary BDNF and BDNF/Cr did not decrease in responders or non-responders after HA therapy. Conclusions Urinary NGF, but not BDNF, levels decreased significantly after HA therapy; both of these factors remained higher than in controls even after HA treatment. HA had a beneficial effect on IC/BPS, but it was limited. The reduction of urinary NGF levels was significant in responders, with a reduction of pain and improved GRA. PMID:24614892

  1. A brain-derived neurotrophic factor polymorphism Val66Met identifies fibromyalgia syndrome subgroup with higher body mass index and C-reactive protein.

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    Xiao, Yangming; Russell, I Jon; Liu, Ya-Guang

    2012-08-01

    A common single nucleotide polymorphism (SNP) in the gene of brain-derived neurotrophic factor (BDNF) results from a substitution at position 66 from valine (Val) to methionine (Met) and may predispose to human neuropsychiatric disorders. We proposed to determine whether these BDNF gene SNPs were associated with fibromyalgia syndrome (FMS) and/or any of its typical phenotypes. Patients with FMS (N = 95) and healthy normal controls (HNC, N = 58) were studied. Serum high-sensitivity C-reactive protein (hsCRP) levels were measured using an enzyme-linked immunosorbent assay (ELISA). The BDNF SNPs were determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).The BDNF SNP distribution was 65 (68%) Val/Val, 28 (30%) Val/Met, and 2 (2%) Met/Met for FMS and 40 (69%), 17(29%), and 1 (2%) for HNC, respectively. The serum high-sensitivity C-reactive protein (hsCRP)and body mass index (BMI) in FMS were higher than in HNC. The FMS with BDNF Val66Val had significantly higher mean BMI (P = 0.0001) and hsCRP (P = 0.02) than did FMS carrying the Val66Met genotype. This pattern was not found in HNC. Phenotypic measures of subjective pain, pain threshold, depression, or insomnia did not relate to either of the BDNF SNPs in FMS. The relative distribution BDNF SNPs did not differ between FMS and HNC. The BDNF Val66Met polymorphism is not selective for FMS. The BDNF Val66Val SNP identifies a subgroup of FMS with elevated hsCRP and higher BMI. This is the first study to associate a BDNF polymorphism with a FMS subgroup phenotype.

  2. Serum-free generation and quantification of functionally active Leukemia-derived DC is possible from malignant blasts in acute myeloid leukemia and myelodysplastic syndromes.

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    Kufner, S; Fleischer, R Pelka; Kroell, T; Schmid, C; Zitzelsberger, H; Salih, H; de Valle, F; Treder, W; Schmetzer, H M

    2005-10-01

    Functional dendritic cells (DC) are professional antigen presenting cells (APC) and can be generated in vitro from leukemic cells from acute myeloid leukemia AML patients, giving rise to APC of leukemic origin presenting leukemic antigens (DC(leu)). We have already shown that DC can be successfully generated from AML and myeloplastic syndromes (MDS) cells in serum-free 'standard' medium (X-vivo + GM-CSF + IL-4 +TNFalpha + FL) in 10-14 days. In this study, we present that DC counts generated from mononuclear cells (MNC) varied between 20% (from 55 MDS samples), 34% (from 100 AML samples) and 25% (from 38 healthy MNC samples) medium. Between 53% and 58% of DC are mature CD83+ DC. DC harvests were highest in monocytoid FAB types (AML-M4/M5, MDS-CMML) and independent from cytogenetic risk groups, demonstrating that DC-based strategies can be applied for patients with all cytogenetic risk groups. Proof of the clonal derivation of DC generated was obtained in five AML and four MDS cases with a combined FISH/immunophenotype analysis (FISH-IPA): The clonal numerical chromosome aberrations of the diseases were regularly codetectable with DC markers; however, not with all clonal cells being convertible to leukemia-derived DC(leu) (on average, 53% of blasts in AML or MDS). To the contrary, not all DC generated carried the clonal aberration (on average, 51% of DC). In 41 AML and 13 MDS cases with a suitable antigen expression, we could confirm FISH-IPA data by Flow cytometry: although DC(leu) are regularly detectable, on average only 57% of blasts in AML and 64% of blasts in MDS were converted to DC(leu). After coculture with DC in mixed lymphocyte reactions (MLR), autologous T cells from AML and MDS patients proliferate and upregulate costimulatory receptors. The specific lysis of leukemic cells by autologous T cells could be demonstrated in three cases with AML in a Fluorolysis assay. In six cases with only few DC(leu) or few vital T cells available after the DC

  3. A tumor profile in Patau syndrome (trisomy 13).

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    Satgé, Daniel; Nishi, Motoi; Sirvent, Nicolas; Vekemans, Michel; Chenard, Marie-Pierre; Barnes, Ann

    2017-08-01

    Individuals with trisomic conditions like Down syndrome and Edwards syndrome are prone to certain types of malignancy. However, for Patau syndrome (constitutional trisomy 13), which occurs in 1/10,000-1/20,000 live births, the tumor profile has not been well characterized. An awareness of susceptibility to malignancies can improve care of affected individuals, as well as further our understanding of the contribution of trisomy to carcinogenesis. Therefore, we conducted an extensive review of the literature; we found 17 malignancies reported in individuals with Patau syndrome. These comprised eight embryonic tumors, three leukemias, two malignant germ cell tumors, two carcinomas, a malignant brain tumor, and a sarcoma. Benign tumors were mainly extragonadal teratomas. The small number of reported malignant tumors suggests that there is not an increased risk of cancer in the context of trisomy 13. The tumor profile in Patau syndrome differs from that observed in Edwards syndrome (trisomy 18) and Down syndrome (trisomy 21), suggesting that the supernumerary chromosome 13 could promote particular tumor formations as it does particular malformations. No general and direct relationships of tumor occurrence with organ weight, congenital malformations, histological changes, or presence of tumor suppressor genes on chromosome 13 were observed. However, some tumors were found in tissues whose growth and development are controlled by genes mapping to chromosome 13. Recent reports of successful outcomes following surgical treatment and adapted chemotherapy indicate that treatment of cancer is possible in Patau syndrome. © 2017 Wiley Periodicals, Inc.

  4. 6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.

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    Desch, Laurent; Marle, Nathalie; Mosca-Boidron, Anne-Laure; Faivre, Laurence; Eliade, Marie; Payet, Muriel; Ragon, Clemence; Thevenon, Julien; Aral, Bernard; Ragot, Sylviane; Ardalan, Azarnouche; Dhouibi, Nabila; Bensignor, Candace; Thauvin-Robinet, Christel; El Chehadeh, Salima; Callier, Patrick

    2015-01-01

    Prader-Willi syndrome (PWS) is characterized by hypotonia, delayed neuropsychomotor development, overeating, obesity and mental deficiency. This phenotype is encountered in other conditions, defining Prader-Willi-like syndrome (PWLS). We report a 14-year-old boy with a complex small supernumerary marker chromosome (sSMC) associated with PWLS. The propositus presents clinical features commonly found in patients with PWLS, including growth hormone deficit. Banding karyotype analysis and fluorescence in situ hybridization (FISH) revealed a marker derived from chromosome 6 and a neocentromere as suspected, but array-CGH enabled us to characterize this marker as a der(10)t(6;10)(6qter → 6q23.3::10p11.1 → 10p11.21)dn. As far as we know, this is the first diagnosed case of PWLS associated with a complex sSMC, involving a 30.9 Mb gain in the 6q16.3q23.3 region and a 3.5 Mb gain in the 10p11.21p11.1 region. Several genes have been mapped to the 6q region including the TCBA1 gene, which is associated with developmental delay and recurrent infections, the ENPP1 gene, associated with insulin resistance and susceptibility to obesity and the BMIQ3 gene, associated with body mass index (BMI). No OMIM gene was found in the smallest 10p11.21p11.1 region. We suggest that the duplicated chromosome segment 6q16.3q23.3 may be responsible for the phenotype of our case and may also be a candidate locus of PWLS.

  5. Serotonin syndrome

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    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  6. Metabolic Syndrome Derived from Principal Component Analysis and Incident Cardiovascular Events: The Multi Ethnic Study of Atherosclerosis (MESA and Health, Aging, and Body Composition (Health ABC

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    Subhashish Agarwal

    2012-01-01

    Full Text Available Background. The NCEP metabolic syndrome (MetS is a combination of dichotomized interrelated risk factors from predominantly Caucasian populations. We propose a continuous MetS score based on principal component analysis (PCA of the same risk factors in a multiethnic cohort and compare prediction of incident CVD events with NCEP MetS definition. Additionally, we replicated these analyses in the Health, Aging, and Body composition (Health ABC study cohort. Methods and Results. We performed PCA of the MetS elements (waist circumference, HDL, TG, fasting blood glucose, SBP, and DBP in 2610 Caucasian Americans, 801 Chinese Americans, 1875 African Americans, and 1494 Hispanic Americans in the multiethnic study of atherosclerosis (MESA cohort. We selected the first principal component as a continuous MetS score (MetS-PC. Cox proportional hazards models were used to examine the association between MetS-PC and 5.5 years of CVD events (n=377 adjusting for age, gender, race, smoking and LDL-C, overall and by ethnicity. To facilitate comparison of MetS-PC with the binary NCEP definition, a MetS-PC cut point was chosen to yield the same 37% prevalence of MetS as the NCEP definition (37% in the MESA cohort. Hazard ratio (HR for CVD events were estimated using the NCEP and Mets-PC-derived binary definitions. In Cox proportional models, the HR (95% CI for CVD events for 1-SD (standard deviation of MetS-PC was 1.71 (1.54–1.90 (P<0.0001 overall after adjusting for potential confounders, and for each ethnicity, HRs were: Caucasian, 1.64 (1.39–1.94, Chinese, 1.39 (1.06–1.83, African, 1.67 (1.37–2.02, and Hispanic, 2.10 (1.66-2.65. Finally, when binary definitions were compared, HR for CVD events was 2.34 (1.91–2.87 for MetS-PC versus 1.79 (1.46–2.20 for NCEP MetS. In the Health ABC cohort, in a fully adjusted model, MetS-PC per 1-SD (Health ABC remained associated with CVD events (HR=1.21, 95%CI 1.12–1.32 overall, and for each ethnicity, Caucasian (HR

  7. Metabolic Syndrome Derived from Principal Component Analysis and Incident Cardiovascular Events: The Multi Ethnic Study of Atherosclerosis (MESA) and Health, Aging, and Body Composition (Health ABC).

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    Agarwal, Subhashish; Jacobs, David R; Vaidya, Dhananjay; Sibley, Christopher T; Jorgensen, Neal W; Rotter, Jerome I; Chen, Yii-Der Ida; Liu, Yongmei; Andrews, Jeanette S; Kritchevsky, Stephen; Goodpaster, Bret; Kanaya, Alka; Newman, Anne B; Simonsick, Eleanor M; Herrington, David M

    2012-01-01

    Background. The NCEP metabolic syndrome (MetS) is a combination of dichotomized interrelated risk factors from predominantly Caucasian populations. We propose a continuous MetS score based on principal component analysis (PCA) of the same risk factors in a multiethnic cohort and compare prediction of incident CVD events with NCEP MetS definition. Additionally, we replicated these analyses in the Health, Aging, and Body composition (Health ABC) study cohort. Methods and Results. We performed PCA of the MetS elements (waist circumference, HDL, TG, fasting blood glucose, SBP, and DBP) in 2610 Caucasian Americans, 801 Chinese Americans, 1875 African Americans, and 1494 Hispanic Americans in the multiethnic study of atherosclerosis (MESA) cohort. We selected the first principal component as a continuous MetS score (MetS-PC). Cox proportional hazards models were used to examine the association between MetS-PC and 5.5 years of CVD events (n = 377) adjusting for age, gender, race, smoking and LDL-C, overall and by ethnicity. To facilitate comparison of MetS-PC with the binary NCEP definition, a MetS-PC cut point was chosen to yield the same 37% prevalence of MetS as the NCEP definition (37%) in the MESA cohort. Hazard ratio (HR) for CVD events were estimated using the NCEP and Mets-PC-derived binary definitions. In Cox proportional models, the HR (95% CI) for CVD events for 1-SD (standard deviation) of MetS-PC was 1.71 (1.54-1.90) (P definitions were compared, HR for CVD events was 2.34 (1.91-2.87) for MetS-PC versus 1.79 (1.46-2.20) for NCEP MetS. In the Health ABC cohort, in a fully adjusted model, MetS-PC per 1-SD (Health ABC) remained associated with CVD events (HR = 1.21, 95%CI 1.12-1.32) overall, and for each ethnicity, Caucasian (HR = 1.24, 95%CI 1.12-1.39) and African Americans (HR = 1.16, 95%CI 1.01-1.32). Finally, when using a binary definition of MetS-PC (cut point 0.505) designed to match the NCEP definition in terms of prevalence in the Health ABC cohort (35

  8. Surfactant treatment before first breath for respiratory distress syndrome in preterm lambs: comparison of a peptide-containing synthetic lung surfactant with porcine-derived surfactant

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    van Zyl JM

    2013-08-01

    Full Text Available Johann M van Zyl,1 Johan Smith2 1Division of Pharmacology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, South Africa; 2Department of Paediatrics and Child Health, Tygerberg Children's Hospital, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg, South Africa Background: In a recent study utilizing a saline-lavaged adult rabbit model, we described a significant improvement in systemic oxygenation and pulmonary shunt after the instillation of a novel synthetic peptide-containing surfactant, Synsurf. Respiratory distress syndrome in the preterm lamb more closely resembles that of the human infant, as their blood gas, pH values, and lung mechanics deteriorate dramatically from birth despite ventilator support. Moreover, premature lambs have lungs which are mechanically unstable, with the advantage of being able to measure multiple variables over extended periods. Our objective in this study was to investigate if Synsurf leads to improved systemic oxygenation, lung mechanics, and histology in comparison to the commercially available porcine-derived lung surfactant Curosurf® when administered before first breath in a preterm lamb model. Materials and methods: A Cesarean section was performed under general anesthesia on 18 time-dated pregnant Dohne Merino ewes at 129–130 days gestation. The premature lambs were delivered and ventilated with an expiratory tidal volume of 6–8 mL/kg for the first 30 minutes and thereafter at 8–10 mL/kg. In a randomized controlled trial, the two surfactants tested were Synsurf and Curosurf®, both at a dose of 100 mg/kg phospholipids (1,2-dipalmitoyl-L-α-phosphatidylcholine; 90% in Synsurf, 40% in Curosurf®. A control group of animals was treated with normal saline. Measurements of physiological variables, blood gases, and lung mechanics were made before and after surfactant and saline replacement and at 15, 30, 45, 60, 90, 120, 180

  9. Prescription n-3 fatty acids, but not eicosapentaenoic acid alone, improve reference memory-related learning ability by increasing brain-derived neurotrophic factor levels in SHR.Cg-Lepr(cp)/NDmcr rats, a metabolic syndrome model.

    Science.gov (United States)

    Hashimoto, Michio; Inoue, Takayuki; Katakura, Masanori; Tanabe, Yoko; Hossain, Shahdat; Tsuchikura, Satoru; Shido, Osamu

    2013-10-01

    Metabolic syndrome is implicated in the decline of cognitive ability. We investigated whether the prescription n-3 fatty acid administration improves cognitive learning ability in SHR.Cg-Lepr(cp)/NDmcr (SHR-cp) rats, a metabolic syndrome model, in comparison with administration of eicosapentaenoic acid (EPA, C20:5, n-3) alone. Administration of TAK-085 [highly purified and concentrated n-3 fatty acid formulation containing EPA ethyl ester and docosahexaenoic acid (DHA, C22:6, n-3) ethyl ester] at 300 mg/kg body weight per day for 13 weeks reduced the number of reference memory-related errors in SHR-cp rats, but EPA alone had no effect, suggesting that long-term TAK-085 administration improves cognitive learning ability in a rat model of metabolic syndrome. However, the working memory-related errors were not affected in either of the rat groups. TAK-085 and EPA administration increased plasma EPA and DHA levels of SHR-cp rats, associating with an increase in EPA and DHA in the cerebral cortex. The TAK-085 administration decreased the lipid peroxide levels and reactive oxygen species in the cerebral cortex and hippocampus of SHR-cp rats, suggesting that TAK-085 increases antioxidative defenses. Its administration also increased the brain-derived neurotrophic factor levels in the cortical and hippocampal tissues of TAK-085-administered rats. The present study suggests that long-term TAK-085 administration is a possible therapeutic strategy for protecting against metabolic syndrome-induced learning decline.

  10. CGG-repeat dynamics andFMR1gene silencing in fragile X syndrome stem cells and stem cell-derived neurons.

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    Zhou, Yifan; Kumari, Daman; Sciascia, Nicholas; Usdin, Karen

    2016-01-01

    Fragile X syndrome (FXS), a common cause of intellectual disability and autism, results from the expansion of a CGG-repeat tract in the 5' untranslated region of the FMR1 gene to >200 repeats. Such expanded alleles, known as full mutation (FM) alleles, are epigenetically silenced in differentiated cells thus resulting in the loss of FMRP, a protein important for learning and memory. The timing of repeat expansion and FMR1 gene silencing is controversial. We monitored the repeat size and methylation status of FMR1 alleles with expanded CGG repeats in patient-derived induced pluripotent stem cells (iPSCs) and embryonic stem cells (ESCs) that were grown for extended period of time either as stem cells or differentiated into neurons. We used a PCR assay optimized for the amplification of large CGG repeats for sizing, and a quantitative methylation-specific PCR for the analysis of FMR1 promoter methylation. The FMR1 mRNA levels were analyzed by qRT-PCR. FMRP levels were determined by western blotting and immunofluorescence. Chromatin immunoprecipitation was used to study the association of repressive histone marks with the FMR1 gene in FXS ESCs. We show here that while FMR1 gene silencing can be seen in FXS embryonic stem cells (ESCs), some silenced alleles contract and when the repeat number drops below ~400, DNA methylation erodes, even when the repeat number remains >200. The resultant active alleles do not show the large step-wise expansions seen in stem cells from other repeat expansion diseases. Furthermore, there may be selection against large active alleles and these alleles do not expand further or become silenced on neuronal differentiation. Our data support the hypotheses that (i) large expansions occur prezygotically or in the very early embryo, (ii) large unmethylated alleles may be deleterious in stem cells, (iii) methylation can occur on alleles with >400 repeats very early in embryogenesis, and (iv) expansion and contraction may occur by different

  11. FREQUENCY AND CHARACTERISTICS OF SUPERNUMERARY TEETH IN BRAZILIAN CHILDREN: CONSEQUENCES AND PROPOSED TREATMENTS FREQÜÊNCIA E CARACTERÍSTICAS DOS DENTES SUPRANUMERÁRIOS EM CRIANÇAS BRASILEIRAS: CONSEQÜÊNCIAS E TRATAMENTOS PROPOSTOS

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    Laura Guimarães PRIMO

    1997-10-01

    Full Text Available The study had the objective of identifying the frequency of supernumerary teeth on patients attended at the Pediatric Dentistry Clinic at the School of Dentistry of the Universidade Federal do Rio de Janeiro (FO-UFRJ, from 1981 to 1990, relating the frequency to the sex and dentition of the patients. Some characteristics relating to and consequential upon the pathology, as well as the proposed treatments, are also part of this work. To achieve the proposed objectives, 1,907 files of patients with full mouth radiographs were examined. Children who had disturbances such as cleft lip or palate, cleidocranial dysostosis or Gardner's Syndrome were excluded from the study. The age of the patients who comprised the sample varied from 2 to 14Este estudo teve como objetivo identificar a freqüência de dentes supranumerários em pacientes atendidos na Clínica de Odontopediatria da Faculdade de Odontologia da Universidade Federal do Rio de Janeiro (FO-UFRJ, entre 1981 e 1990, relacionando-a com o sexo e a dentição dos pacientes. As conseqüências da presença dessa patologia, bem como os tratamentos propostos, também fizeram parte deste trabalho. A fim de atingir os objetivos propostos, 1907 fichas de pacientes com radiografias de boca total foram examinadas. As crianças que apresentavam distúrbios, tais como fenda labial ou palatina, disostose cleidocraniana ou Síndrome de Gardner, foram excluídas do estudo. A idade dos pacientes que compuseram a amostra variou de 2 a 14 anos

  12. Interactions between BMP-7 and USAG-1 (uterine sensitization-associated gene-1 regulate supernumerary organ formations.

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    Honoka Kiso

    Full Text Available Bone morphogenetic proteins (BMPs are highly conserved signaling molecules that are part of the transforming growth factor (TGF-beta superfamily, and function in the patterning and morphogenesis of many organs including development of the dentition. The functions of the BMPs are controlled by certain classes of molecules that are recognized as BMP antagonists that inhibit BMP binding to their cognate receptors. In this study we tested the hypothesis that USAG-1 (uterine sensitization-associated gene-1 suppresses deciduous incisors by inhibition of BMP-7 function. We learned that USAG-1 and BMP-7 were expressed within odontogenic epithelium as well as mesenchyme during the late bud and early cap stages of tooth development. USAG-1 is a BMP antagonist, and also modulates Wnt signaling. USAG-1 abrogation rescued apoptotic elimination of odontogenic mesenchymal cells. BMP signaling in the rudimentary maxillary incisor, assessed by expressions of Msx1 and Dlx2 and the phosphorylation of Smad protein, was significantly enhanced. Using explant culture and subsequent subrenal capsule transplantation of E15 USAG-1 mutant maxillary incisor tooth primordia supplemented with BMP-7 demonstrated in USAG-1+/- as well as USAG-1-/- rescue and supernumerary tooth development. Based upon these results, we conclude that USAG-1 functions as an antagonist of BMP-7 in this model system. These results further suggest that the phenotypes of USAG-1 and BMP-7 mutant mice reported provide opportunities for regenerative medicine and dentistry.

  13. Identification of a cat eye syndrome using DNA sequence dosage analysis.

    Science.gov (United States)

    Bulle, F; Lespinasse, J; Pawlak, A; Vadot, E; Sastre, J; Noël, B; Guellaen, G

    1996-01-01

    We report here the detection of a Cat Eye Syndrome (CES) in a woman who does not exhibit the related phenotype, due to intensive surgery. The analysis of her karyotype reveals a small supernumerary bisatellited chromosome likely to correspond to a fragment of chromosome 13, 15, 21 or 22 on banding analysis. Southern blot of genomic DNA of this patient and her parents hybridized with probes specific of these chromosomes, revealed a DNA amplification of the 22q11 region for the patient, likely to correspond to a CES.

  14. An unusual case of non-syndromic occurrence of multiple dental anomalies

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    Suprabha B

    2009-01-01

    Full Text Available Dental anomalies have been known to occur in humans due to a variety of genetic and environmental factors. Combinations of dental anomalies are known to be associated with specific syndromes. A few cases of multiple dental anomalies have been reported in patients with no generalized abnormalities. This case report describes an unusual occurrence of a combination of dental anomalies in an apparently normal healthy 12-year-old female patient. The dental anomalies in this patient were multiple dens invaginatus, generalized enamel hypoplasia, generalized microdontia, root resorption and multiple periapical lesions, shovel shaped incisors, cup shaped premolars, taurodontism, hypodontia and supernumerary teeth.

  15. Beals Syndrome

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    ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

  16. [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].

    Science.gov (United States)

    Kunze, J; Tolksdorf, M; Wiedemann, H R

    1975-01-01

    We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome. The prominent symptoms are: anal stenosis, preauricular tags and pits, coloboma of the iris, doubling of the pelvis and ureter on both sides, vesicourethral reflux on the right side and normal mental development. Leucocyte alkaline phosphatase is normal. Chromosomal analysis shows a supernumerary submetacentric chromosome. This extra chromosome is smaller than the G-group chromosomes and has satellites on the short and long arms. Autoradiography after 3H-thymidine incorporation shows a late-labeling marker chromosome. After using the Giemsa-banding technique, the chromatides demonstrate dark bandings with only soft, unstained satellites. With the fluorescence method, one can see spotlike fluorescence of the satellites on both arms and diffuse fluorescence of the hetero-chromatic segments. In addition, the C-bandings demonstrate a homogeneous dark staining of the chromatids, but we did not find stained satellites. Using the Giemsa-11 technique one can see the 47th chromosome with predominantly heterochromatic parts, but small euchromatic segments are visible between them. Satellites are unstained. Using currently accepted cytogenetical methods, it is not possible to identify the origin of this supernumerary marker chromosome.

  17. Autologous cell therapy with CD133+ bone marrow-derived stem cells for refractory Asherman's syndrome and endometrial atrophy: a pilot cohort study.

    Science.gov (United States)

    Santamaria, Xavier; Cabanillas, Sergio; Cervelló, Irene; Arbona, Cristina; Raga, Francisco; Ferro, Jaime; Palmero, Julio; Remohí, Jose; Pellicer, Antonio; Simón, Carlos

    2016-05-01

    Could cell therapy using autologous peripheral blood CD133+ bone marrow-derived stem cells (BMDSCs) offer a safe and efficient therapeutic approach for patients with refractory Asherman's syndrome (AS) and/or endometrial atrophy (EA) and a wish to conceive? In the first 3 months, autologous cell therapy, using CD133+ BMDSCs in conjunction with hormonal replacement therapy, increased the volume and duration of menses as well as the thickness and angiogenesis processes of the endometrium while decreasing intrauterine adhesion scores. AS is characterized by the presence of intrauterine adhesions and EA prevents the endometrium from growing thicker than 5 mm, resulting in menstruation disorders and infertility. Many therapies have been attempted for these conditions, but none have proved effective. This was a prospective, experimental, non-controlled study. There were 18 patients aged 30-45 years with refractory AS or EA were recruited, and 16 of these completed the study. Medical history, physical examination, endometrial thickness, intrauterine adhesion score and neoangiogenesis were assessed before and 3 and 6 months after cell therapy. After the initial hysteroscopic diagnosis, BMDSC mobilization was performed by granulocyte-CSF injection, then CD133+ cells were isolated through peripheral blood aphaeresis to obtain a mean of 124.39 million cells (range 42-236), which were immediately delivered into the spiral arterioles by catheterization. Subsequently, endometrial treatment after stem cell therapy was assessed in terms of restoration of menses, endometrial thickness (by vaginal ultrasound), adhesion score (by hysteroscopy), neoangiogenesis and ongoing pregnancy rate. The study was conducted at Hospital Clínico Universitario of Valencia and IVI Valencia (Spain). All 11 AS patients exhibited an improved uterine cavity 2 months after stem cell therapy. Endometrial thickness increased from an average of 4.3 mm (range 2.7-5) to 6.7 mm (range 3.1-12) ( ITALIC! P = 0

  18. Spirulina platensis Improves Mitochondrial Function Impaired by Elevated Oxidative Stress in Adipose-Derived Mesenchymal Stromal Cells (ASCs) and Intestinal Epithelial Cells (IECs), and Enhances Insulin Sensitivity in Equine Metabolic Syndrome (EMS) Horses.

    Science.gov (United States)

    Nawrocka, Daria; Kornicka, Katarzyna; Śmieszek, Agnieszka; Marycz, Krzysztof

    2017-08-03

    Equine Metabolic Syndrome (EMS) is a steadily growing life-threatening endocrine disorder linked to insulin resistance, oxidative stress, and systemic inflammation. Inflammatory microenvironment of adipose tissue constitutes the direct tissue milieu for various cell populations, including adipose-derived mesenchymal stromal cells (ASCs), widely considered as a potential therapeutic cell source in the course of the treatment of metabolic disorders. Moreover, elevated oxidative stress induces inflammation in intestinal epithelial cells (IECs)-the first-line cells exposed to dietary compounds. In the conducted research, we showed that in vitro application of Spirulina platensis contributes to the restoration of ASCs' and IECs' morphology and function through the reduction of cellular oxidative stress and inflammation. Enhanced viability, suppressed senescence, and improved proliferation of ASCs and IECs isolated from metabolic syndrome-affected individuals were evident following exposition to Spirulina. A protective effect of the investigated extract against mitochondrial dysfunction and degeneration was also observed. Moreover, our data demonstrate that Spirulina extract effectively suppressed LPS-induced inflammatory responses in macrophages. In vivo studies showed that horses fed with a diet based on Spirulina platensis supplementation lost weight and their insulin sensitivity improved. Thus, our results indicate the engagement of Spirulina platensis nourishing as an interesting alternative approach for supporting the conventional treatment of equine metabolic syndrome.

  19. Spirulina platensis Improves Mitochondrial Function Impaired by Elevated Oxidative Stress in Adipose-Derived Mesenchymal Stromal Cells (ASCs) and Intestinal Epithelial Cells (IECs), and Enhances Insulin Sensitivity in Equine Metabolic Syndrome (EMS) Horses

    Science.gov (United States)

    Nawrocka, Daria; Kornicka, Katarzyna; Śmieszek, Agnieszka

    2017-01-01

    Equine Metabolic Syndrome (EMS) is a steadily growing life-threatening endocrine disorder linked to insulin resistance, oxidative stress, and systemic inflammation. Inflammatory microenvironment of adipose tissue constitutes the direct tissue milieu for various cell populations, including adipose-derived mesenchymal stromal cells (ASCs), widely considered as a potential therapeutic cell source in the course of the treatment of metabolic disorders. Moreover, elevated oxidative stress induces inflammation in intestinal epithelial cells (IECs)—the first-line cells exposed to dietary compounds. In the conducted research, we showed that in vitro application of Spirulina platensis contributes to the restoration of ASCs’ and IECs’ morphology and function through the reduction of cellular oxidative stress and inflammation. Enhanced viability, suppressed senescence, and improved proliferation of ASCs and IECs isolated from metabolic syndrome-affected individuals were evident following exposition to Spirulina. A protective effect of the investigated extract against mitochondrial dysfunction and degeneration was also observed. Moreover, our data demonstrate that Spirulina extract effectively suppressed LPS-induced inflammatory responses in macrophages. In vivo studies showed that horses fed with a diet based on Spirulina platensis supplementation lost weight and their insulin sensitivity improved. Thus, our results indicate the engagement of Spirulina platensis nourishing as an interesting alternative approach for supporting the conventional treatment of equine metabolic syndrome. PMID:28771165

  20. Comparative study on the turnover of quinic- and shikimic acid and of its derivatives in needles of Norway spruce, Picea abies (L.) Karst., affected by 'Waldsterben' syndrome

    International Nuclear Information System (INIS)

    Dittrich, P.; Senser, M.; Frielinghaus, J.

    1989-01-01

    A comparative study on the incorporation of 14 C into quinic- and shikimic acid in spruce needles was carried out with four different syndroms of Picea abies (L.) Karst: a tree from high altitudes of the Bayerischer Wald with the syndrom of 'acute yellowing', a light-sensitive mutant with yellowish needles (Picea abies Karst. finedonensis), a tree exhibiting 'Lametta' syndrome with a translucent crown and twigs hanging down like tinsel, and a healthy tree for control. The needles of these trees were labelled via photosynthetic fixation of 14 CO 2 in June, and the fate of labelled compounds was monitored over 125 days. In the youngest needles incorporation rates of quinic and shikimic acid reached a dominating level of about 60% of the label of soluble metabolites, which underlines the decisive role of both acids during needle development. The yellow mutant 'finedonensis' and the tree with 'Lametta' syndrome, which exhibit rather identical turnover kinetics of quinate and shikimate, show lower rates and reach, in particular in one- and two-year-old needles, only about 50% of the incorporation rates of the control spruce. The tree with the syndrome of 'acute yellowing' exhibits a significant reduction of incorporation already in the youngest needles; the older needles of this tree virtually suspend metabolism of both acids all together, though apparently high but dormant pools of shikimate and quinate are present. The degree of label incorporation into shikimate and quinate may possibly serve as a measure of needle damage. Exclusively in the yellow mutant a novel spruce constituent, 3-0-p-coumaroylquinic acid, could be detected; a related compound, 3-0-p-caffeoylshikimic acid was identified in the needles of the 'acute yellowing' tree. (orig./MG) [de

  1. Oral and maxillofacial considerations in Gardner’s syndrome: a report of two cases

    Science.gov (United States)

    Pereira, Debora Lima; Carvalho, Paulo Andre; Achatz, Maria Isabel Waddington; Rocha, AndreCaroli; TardinTorrezan, Giovana; Alves, Fabio Abreu

    2016-01-01

    Gardner’s syndrome (GS) is a genetic disorder characterised by intestinal polyps, multiple osteomas, and soft-tissue tumours. Dentists play an important role in the syndrome diagnosis considering that craniomaxillofacial osteomas are a major criteria for Gardner’s syndrome diagnosis. This study aimed to describe the main stomatological manifestation of GS and the importance of dentists in its diagnosis. Two patients presenting GS were evaluated. The first one had two osteomas in the mandible and GS was suspected. The colonoscopy confirmed the presence of polyposis and a prophylactic proctocolectomy was performed. The other patient had a late-stage diagnosis of GS and developed a rectum adenocarcinoma. The presence of craniomaxillofacial osteomas are a hallmark of the disease. Early-stage GS diagnosis may enable early diagnosis and preventive strategies in carriers. Other dental abnormalities, such as supernumerary teeth, hypercementosis and odontomas, can also be observed. PMID:26981152

  2. Oral and maxillofacial considerations in Gardner's syndrome: a report of two cases.

    Science.gov (United States)

    Pereira, Debora Lima; Carvalho, Paulo Andre; Achatz, Maria Isabel Waddington; Rocha, AndreCaroli; TardinTorrezan, Giovana; Alves, Fabio Abreu

    2016-01-01

    Gardner's syndrome (GS) is a genetic disorder characterised by intestinal polyps, multiple osteomas, and soft-tissue tumours. Dentists play an important role in the syndrome diagnosis considering that craniomaxillofacial osteomas are a major criteria for Gardner's syndrome diagnosis. This study aimed to describe the main stomatological manifestation of GS and the importance of dentists in its diagnosis. Two patients presenting GS were evaluated. The first one had two osteomas in the mandible and GS was suspected. The colonoscopy confirmed the presence of polyposis and a prophylactic proctocolectomy was performed. The other patient had a late-stage diagnosis of GS and developed a rectum adenocarcinoma. The presence of craniomaxillofacial osteomas are a hallmark of the disease. Early-stage GS diagnosis may enable early diagnosis and preventive strategies in carriers. Other dental abnormalities, such as supernumerary teeth, hypercementosis and odontomas, can also be observed.

  3. Effect of Vegan Fecal Microbiota Transplantation on Carnitine- and Choline-Derived Trimethylamine-N-Oxide Production and Vascular Inflammation in Patients With Metabolic Syndrome.

    Science.gov (United States)

    Smits, Loek P; Kootte, Ruud S; Levin, Evgeni; Prodan, Andrei; Fuentes, Susana; Zoetendal, Erwin G; Wang, Zeneng; Levison, Bruce S; Cleophas, Maartje C P; Kemper, E Marleen; Dallinga-Thie, Geesje M; Groen, Albert K; Joosten, Leo A B; Netea, Mihai G; Stroes, Erik S G; de Vos, Willem M; Hazen, Stanley L; Nieuwdorp, Max

    2018-03-26

    Intestinal microbiota have been found to be linked to cardiovascular disease via conversion of the dietary compounds choline and carnitine to the atherogenic metabolite TMAO (trimethylamine-N-oxide). Specifically, a vegan diet was associated with decreased plasma TMAO levels and nearly absent TMAO production on carnitine challenge. We performed a double-blind randomized controlled pilot study in which 20 male metabolic syndrome patients were randomized to single lean vegan-donor or autologous fecal microbiota transplantation. At baseline and 2 weeks thereafter, we determined the ability to produce TMAO from d 6 -choline and d 3 -carnitine (eg, labeled and unlabeled TMAO in plasma and 24-hour urine after oral ingestion of 250 mg of both isotope-labeled precursor nutrients), and fecal samples were collected for analysis of microbiota composition. 18 F-fluorodeoxyglucose positron emission tomography/computed tomography scans of the abdominal aorta, as well as ex vivo peripheral blood mononuclear cell cytokine production assays, were performed. At baseline, fecal microbiota composition differed significantly between vegans and metabolic syndrome patients. With vegan-donor fecal microbiota transplantation, intestinal microbiota composition in metabolic syndrome patients, as monitored by global fecal microbial community structure, changed toward a vegan profile in some of the patients; however, no functional effects from vegan-donor fecal microbiota transplantation were seen on TMAO production, abdominal aortic 18 F-fluorodeoxyglucose uptake, or ex vivo cytokine production from peripheral blood mononuclear cells. Single lean vegan-donor fecal microbiota transplantation in metabolic syndrome patients resulted in detectable changes in intestinal microbiota composition but failed to elicit changes in TMAO production capacity or parameters related to vascular inflammation. URL: http://www.trialregister.nl. Unique identifier: NTR 4338. © 2018 The Authors. Published on

  4. The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females.

    Science.gov (United States)

    Bixler, D; Higgins, M; Hartsfield, J

    1984-07-01

    This report describes two families with the Nance-Horan syndrome, an X-linked trait featuring lenticular cataracts and anomalies of tooth shape and number. Previous reports have described blindness in affected males but posterior sutural cataracts with normal vision as the primary ocular expression in heterozygous females. In one of these two families, the affected female is not only blind in one eye but reportedly had supernumerary central incisors (mesiodens) removed. This constitutes the most severe ocular and dental expression of this gene in heterozygous females yet reported.

  5. [Comparison between propofol and propofol-remifentanil sedation under target-controlled infusion for impacted supernumerary teeth extraction surgery for children].

    Science.gov (United States)

    Hao, Zhang; Yali, Hou; Xiangjun, Li; Fusheng, Dong; Ruihua, Lin

    2017-08-01

    Objective The aim of this study is to compare sedation titrated under target-controlled infusion of propofol and propofol-remifentanil for impacted supernumerary teeth extraction surgery for children. Methods A total of 60 children with anterior maxillary region impacted supernumerary teeth extraction surgery were divided randomly into two groups, namely, propofol group (group P, n=30) and propofol-remifentanil group (group PR, n=30). In group P, a titrated infusion of propofol was started until the modified observer's assessment of alertness/sedation (OAA/S) scale reached level 3 before the actual surgery. In group PR, a remifentanil infusion with a target plasma concentration of 1 ng·mL⁻¹ was started until the operation was finished. A titrated infusion of propofol was also started until the modified OAA/S score reached level 3 before the actual surgery. The Houpt behavior scale was adopted to evaluate the cooperation of each patient in both groups. The heart rate, blood pressure, respiratory rate, oxyhemoglobin saturation, and Narcotrend index, complications, adverse reactions and propofol infusion of all patients were recorded during the operation. Results The Houpt behavior scales in group PR were better than those in group P (P0.05). The incidence of respiratory depression and anterograde amnesia in group PR were higher than that in group P (Psupernumerary teeth extraction surgery for children are safe. The sedation titrated under target-controlled infusion of propofol-remifentanil is better than sedation by propofol when inhaling oxygen.

  6. Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders.

    Science.gov (United States)

    Lee, Nancy Raitano; Wallace, Gregory L; Adeyemi, Elizabeth I; Lopez, Katherine C; Blumenthal, Jonathan D; Clasen, Liv S; Giedd, Jay N

    2012-10-01

    Supernumerary sex chromosome aneuploidies (X/Y-aneuploidies), the presence of extra X and/or Y chromosomes, are associated with heightened rates of language impairments and social difficulties. However, no single study has examined different language domains and social functioning in the same sample of children with tri-, tetra-, and pentasomy X/Y-aneuploidy. The current research sought to fill this gap in the literature and to examine dosage effects of X and Y chromosomes on language and social functioning. Participants included 110 youth with X/Y-aneuploidies (32 female) and 52 with typical development (25 female) matched on age (mean ∼12 years; range 4-22) and maternal education. Participants completed the Wechsler intelligence scales, and parents completed the children's communication checklist-2 and the social responsiveness scale to assess language skills and autistic traits, respectively. Both supernumerary X and Y chromosomes were related to depressed structural and pragmatic language skills and increased autistic traits. The addition of a Y chromosome had a disproportionately greater impact on pragmatic language; the addition of one or more X chromosomes had a disproportionately greater impact on structural language. Given that we link extra X chromosomes with structural language impairments and an extra Y chromosome with pragmatic language impairments, X/Y-aneuploidies may provide clues to genetic mechanisms contributing to idiopathic language impairment and autism spectrum disorders. © 2012 The Authors. Journal of Child Psychology and Psychiatry © 2012 Association for Child and Adolescent Mental Health.

  7. High-Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient-Derived Induced Pluripotent Stem Cells.

    Science.gov (United States)

    Kumari, Daman; Swaroop, Manju; Southall, Noel; Huang, Wenwei; Zheng, Wei; Usdin, Karen

    2015-07-01

    : Fragile X syndrome (FXS), the most common form of inherited cognitive disability, is caused by a deficiency of the fragile X mental retardation protein (FMRP). In most patients, the absence of FMRP is due to an aberrant transcriptional silencing of the fragile X mental retardation 1 (FMR1) gene. FXS has no cure, and the available treatments only provide symptomatic relief. Given that FMR1 gene silencing in FXS patient cells can be partially reversed by treatment with compounds that target repressive epigenetic marks, restoring FMRP expression could be one approach for the treatment of FXS. We describe a homogeneous and highly sensitive time-resolved fluorescence resonance energy transfer assay for FMRP detection in a 1,536-well plate format. Using neural stem cells differentiated from an FXS patient-derived induced pluripotent stem cell (iPSC) line that does not express any FMRP, we screened a collection of approximately 5,000 known tool compounds and approved drugs using this FMRP assay and identified 6 compounds that modestly increase FMR1 gene expression in FXS patient cells. Although none of these compounds resulted in clinically relevant levels of FMR1 mRNA, our data provide proof of principle that this assay combined with FXS patient-derived neural stem cells can be used in a high-throughput format to identify better lead compounds for FXS drug development. In this study, a specific and sensitive fluorescence resonance energy transfer-based assay for fragile X mental retardation protein detection was developed and optimized for high-throughput screening (HTS) of compound libraries using fragile X syndrome (FXS) patient-derived neural stem cells. The data suggest that this HTS format will be useful for the identification of better lead compounds for developing new therapeutics for FXS. This assay can also be adapted for FMRP detection in clinical and research settings. ©AlphaMed Press.

  8. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  9. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  10. Hunter Syndrome

    Science.gov (United States)

    ... in girls. There's no cure for Hunter syndrome. Treatment of Hunter syndrome involves management of symptoms and complications. Symptoms Hunter syndrome is one type of a group of inherited metabolic disorders called mucopolysaccharidoses (MPSs), and Hunter syndrome is ...

  11. Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints.

    Science.gov (United States)

    McTaggart, K E; Budarf, M L; Driscoll, D A; Emanuel, B S; Ferreira, P; McDermid, H E

    1998-01-01

    The supernumerary cat eye syndrome (CES) chromosome is dicentric, containing two copies of 22pter-->q11.2. We have found that the duplication breakpoints are clustered in two intervals. The more proximal, most common interval is the 450-650 kb region between D22S427 and D22S36, which corresponds to the proximal deletion breakpoint interval found in the 22q11 deletion syndrome (DiGeorge/velocardiofacial syndrome). The more distal duplication breakpoint interval falls between CRKL and D22S112, which overlaps with the common distal deletion interval of the 22q11 deletion syndrome. We have therefore classified CES chromosomes into two types based on the location of the two breakpoints required to generate them. The smaller type I CES chromosomes are symmetrical, with both breakpoints located within the proximal interval. The larger type II CES chromosomes are either asymmetrical, with one breakpoint located in each of the two intervals, or symmetrical, with both breakpoints located in the distal interval. The co-localization of the breakpoints of these different syndromes, plus the presence of low-copy repeats adjacent to each interval, suggests the existence of several specific regions of chromosomal instability in 22q11.2 which are involved in the production of both deletions and duplications. Since the phenotype associated with the larger duplication does not appear to be more severe than that of the smaller duplication, determination of the type of CES chromosome does not currently have prognostic value.

  12. Omega-3 Fatty Acids Protect Renal Functions by Increasing Docosahexaenoic Acid-Derived Metabolite Levels in SHR.Cg-Leprcp/NDmcr Rats, a Metabolic Syndrome Model

    Directory of Open Access Journals (Sweden)

    Masanori Katakura

    2014-03-01

    Full Text Available The omega-3 polyunsaturated fatty acids (ω-3 PUFAs docosahexaenoic acid (DHA and/or eicosapentaenoic acid (EPA protect against diabetic nephropathy by inhibiting inflammation. The aim of this study was to assess the effects of highly purified DHA and EPA or EPA only administration on renal function and renal eicosanoid and docosanoid levels in an animal model of metabolic syndrome, SHR.Cg-Leprcp/NDmcr (SHRcp rats. Male SHRcp rats were divided into 3 groups. Control (5% arabic gum, TAK-085 (300 mg/kg/day, containing 467 mg/g EPA and 365 mg/g DHA, or EPA (300 mg/kg/day was orally administered for 20 weeks. The urinary albumin to creatinine ratio in the TAK-085-administered group was significantly lower than that in other groups. The glomerular sclerosis score in the TAK-085-administered group was significantly lower than that in the other groups. Although DHA levels were increased in total kidney fatty acids, the levels of nonesterified DHA were not significantly different among the 3 groups, whereas the levels of protectin D1, resolvin D1, and resolvin D2 were significantly increased in the TAK-085-administered group. The results show that the use of combination therapy with DHA and EPA in SHRcp rats improved or prevented renal failure associate with metabolic syndrome with decreasing triglyceride levels and increasing ω-3 PUFA lipid mediators.

  13. The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

    Science.gov (United States)

    Schinzel, A; Schmid, W; Fraccaro, M; Tiepolo, L; Zuffardi, O; Opitz, J M; Lindsten, J; Zetterqvist, P; Enell, H; Baccichetti, C; Tenconi, R; Pagon, R A

    1981-01-01

    Eleven patients with the so-called Cat Eye syndrome are reported including a more detailed description of the original cases reported by Schmid and Fraccaro. All cases had, in addition to a normal karyotype, a small extra G-like chromosome which appeared to be an isochromosome for the juxtacentromeric region (pter to q11) of an acrocentric chromosome. None were mosaics. Clinical findings and further cytogenetic studies in a few cases suggest that these markers probably derive from a No. 22 chromosome. Characteristic features of the Cat Eye syndrome in these 11 patients and those reviewed from the literature are: ocular coloboma which may involve the iris, choroid and/or optic nerve, preauricular skin tags and/or pits which are probably the most consistent feature, congenital heart defect, anal atresia with a fistula, renal malformations such as unilateral absence, unilateral or bilateral hypoplasia, and cystic dysplasia, and antimongoloid position of eyes. Intelligence is usually low-normal, although moderate retardation is also seen. There is great variability in the clinical findings ranging from near normal to lethal malformations. Less frequent, but also characteristic findings are: microphthalmia, microtia with atresia of the external auditory canal, intrahepatic or extrahepatic biliary atresia and malrotation of the gut. Direct transmission of the marker from one generation to the other was observed in both sexes. In those families, there was considerable variability in the clinical findings between affected family members. These cases show that there is a bias of ascertainment for patients who have the more striking malformations, especially those with ocular coloboma and anal atresia, a combination which appears to be present in only a minority of cases. Many mildly affected patients probably remain undetected. It is proposed that the term Cat Eye syndrome should be applied only to cases with trisomy or tetrasomy of not more than 22pter to q11 and without

  14. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes...

  15. Interrupção do arco aórtico tipo B em uma paciente com síndrome de olho de gato Interrupción del arco aórtico tipo B en una paciente con síndrome del ojo de gato Interrupted aortic arch type B in A patient with cat eye syndrome

    Directory of Open Access Journals (Sweden)

    Sintia Iole Nogueira Belangero

    2009-05-01

    Full Text Available Relatamos um caso de paciente com Síndrome do Olho de Gato (Cat Eye Syndrome-CES e interrupção do arco aórtico tipo B, um achado típico na síndrome da deleção 22q11.2. A análise cromossômica e a técnica de hibridização fluorescente in situ (FISH mostraram um cromossomo marcador isodicêntrico supranumerário com bi-satélite derivado do cromossomo 22. O segmento de 22pter a 22q11.2 no cromossomo supranumerário encontrado em nosso paciente não estava em sobreposição com a região deletada em pacientes com a síndrome da deleção 22q11.2. Entretanto, o achado de interrupção do arco aórtico tipo B não é usual na CES, mas é um defeito cardíaco freqüente na síndrome da deleção 22q11.Informamos un caso de paciente con Síndrome de Ojo de Gato (Cat Eye Syndrome-CES e Interrupción del Arco Aórtico tipo B, un hallazgo típico en el síndrome de la deleción 22q11.2. El análisis cromosómico y la técnica de hibridación in situ fluorescente (FISH mostraron un cromosoma marcador isodicéntrico supernumerario bisatelitado derivado del cromosoma 22. El segmento de 22pter a 22q11.2 en el cromosoma supernumerario encontrado en nuestro paciente no estaba en sobreposición con la región deletada en pacientes con el síndrome de la deleción 22q11.2. Con todo, el hallazgo de interrupción del arco aórtico tipo B no es usual en el CES, sino que es un defecto cardíaco frecuente en el síndrome de deleción 22q11.We report a patient with cat eye syndrome and interrupted aortic arch type B, a typical finding in the 22q11.2 deletion syndrome. Chromosomal analysis and fluorescent in situ hybridization (FISH showed a supernumerary bisatellited isodicentric marker chromosome derived from chromosome 22. The segment from 22pter to 22q11.2 in the supernumerary chromosome found in our patient does not overlap with the region deleted in patients with the 22q11.2 deletion syndrome. However, the finding of an interrupted aortic arch type B is

  16. Neurocutaneous syndromes; Neurokutane Erkrankungen

    Energy Technology Data Exchange (ETDEWEB)

    Niederstadt, T. [Universitaetsklinikum Muenster (Germany). Inst. fuer Klinische Radiologie; Kurlemann, G. [Muenster Univ. (Germany). Medizinische Fakultaet

    2007-09-15

    Neurocutaneous Syndromes or phakomatoses are a heterogenous group of congenital diseases. They are characterized by dysplasias of tissues derived from the neuroektoderm. Skin alterations may be helpful in the interpretation of cerebral lesions. Recently, the genetic and pathophysiologic alterations of many phakomatoses have been elucidated. In this paper the radiologic findings and clinical signs of the most common neurocutaneous diseases (Neurofibromatosis 1 and 2, Tuberous Sclerosis Complex and Sturge Weber Syndrome) will be discussed. (orig.)

  17. Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome.

    Science.gov (United States)

    Knoll, J H; Asamoah, A; Pletcher, B A; Wagstaff, J

    1995-01-16

    We describe a child with downslanting palpebral fissures, preauricular malfunctions, congenital heart defect (total anomalous pulmonary venous return), unilateral absence of a kidney, and developmental delay with an apparent interstitial duplication of proximal 22q. Fluorescent in situ hybridization (FISH) analysis showed duplication of the IGLC locus, and C-banding of the duplicated region was negative. The duplication appears to involve 22q11.2-q12. Although the child has neither colobomas nor microphthalmia, he shows phenotypic overlap with the cat eye syndrome, which is caused by a supernumerary bisatellited chromosome arising from inverted duplication of the short arm and proximal long arm of chromosome 22. Further molecular studies of this patient should help to define the regions responsible for the manifestations of cat eye syndrome.

  18. Experimental inoculation of late term pregnant sows with a field isolate of porcine reproductive and respiratory syndrome vaccine-derived virus

    DEFF Research Database (Denmark)

    Nielsen, Jens; Bøtner, Anette; Bille-Hansen, Vivi

    2002-01-01

    than 99.6% identity to the attenuated vaccine virus, originated from the lungs of a stillborn pig from a swine herd with a sudden high level of stillborn pigs and increased piglet mortality in the nursing period. Intranasal inoculation of sows with the virus isolate resulted in congenital infection......, foetal death, and preweaning pig mortality. As such, the present study showed that vaccine-derived PRRSV can cause disease in swine consistent with PRRS....

  19. Toward Personalized Medicine: Using Cardiomyocytes Differentiated From Urine-Derived Pluripotent Stem Cells to Recapitulate Electrophysiological Characteristics of Type 2 Long QT Syndrome

    OpenAIRE

    Jouni, Mariam; Si-Tayeb, Karim; Es-Salah-Lamoureux, Zeineb; Latypova, Xenia; Champon, Benoite; Caillaud, Amandine; Rungoat, Anais; Charpentier, Flavien; Loussouarn, Gildas; Baró, Isabelle; Zibara, Kazem; Lemarchand, Patricia; Gaborit, Nathalie

    2015-01-01

    Background Human genetically inherited cardiac diseases have been studied mainly in heterologous systems or animal models, independent of patients’ genetic backgrounds. Because sources of human cardiomyocytes (CMs) are extremely limited, the use of urine samples to generate induced pluripotent stem cell–derived CMs would be a noninvasive method to identify cardiac dysfunctions that lead to pathologies within patients’ specific genetic backgrounds. The objective was to validate the use of CMs ...

  20. De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15s.

    Directory of Open Access Journals (Sweden)

    Elena Rossi

    Full Text Available The 15q11-q13 region is characterized by high instability, caused by the presence of several paralogous segmental duplications. Although most mechanisms dealing with cryptic deletions and amplifications have been at least partly characterized, little is known about the rare translocations involving this region. We characterized at the molecular level five unbalanced translocations, including a jumping one, having most of 15q transposed to the end of another chromosome, whereas the der(15(pter->q11-q13 was missing. Imbalances were associated either with Prader-Willi or Angelman syndrome. Array-CGH demonstrated the absence of any copy number changes in the recipient chromosome in three cases, while one carried a cryptic terminal deletion and another a large terminal deletion, already diagnosed by classical cytogenetics. We cloned the breakpoint junctions in two cases, whereas cloning was impaired by complex regional genomic architecture and mosaicism in the others. Our results strongly indicate that some of our translocations originated through a prezygotic/postzygotic two-hit mechanism starting with the formation of an acentric 15qter->q1::q1->qter representing the reciprocal product of the inv dup(15 supernumerary marker chromosome. An embryo with such an acentric chromosome plus a normal chromosome 15 inherited from the other parent could survive only if partial trisomy 15 rescue would occur through elimination of part of the acentric chromosome, stabilization of the remaining portion with telomere capture, and formation of a derivative chromosome. All these events likely do not happen concurrently in a single cell but are rather the result of successive stabilization attempts occurring in different cells of which only the fittest will finally survive. Accordingly, jumping translocations might represent successful rescue attempts in different cells rather than transfer of the same 15q portion to different chromosomes. We also hypothesize that

  1. The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome.

    Science.gov (United States)

    Riazi, M A; Brinkman-Mills, P; Nguyen, T; Pan, H; Phan, S; Ying, F; Roe, B A; Tochigi, J; Shimizu, Y; Minoshima, S; Shimizu, N; Buchwald, M; McDermid, H E

    2000-03-15

    Cat eye syndrome (CES) is a developmental disorder with multiple organ involvement, associated with the duplication of a 2-Mb region of 22q11.2. Using exon trapping and genomic sequence analysis, we have isolated and characterized a gene, CECR1, that maps to this critical region. The protein encoded by CECR1 is similar to previously identified novel growth factors: IDGF from Sarcophaga peregrina (flesh fly) and MDGF from Aplysia californica (sea hare). The CECR1 gene is alternatively spliced and expressed in numerous tissues, with most abundant expression in human adult heart, lung, lymphoblasts, and placenta as well as fetal lung, liver, and kidney. In situ hybridization of a human embryo shows specific expression in the outflow tract and atrium of the developing heart, the VII/VIII cranial nerve ganglion, and the notochord. The location of this gene in the CES critical region and its embryonic expression suggest that the overexpression of CECR1 may be responsible for at least some features of CES, particularly the heart defects. Copyright 2000 Academic Press.

  2. Clinical, cytogenetic and molecular investigation in a fetus with Wolf-Hirschhorn syndrome with paternally derived 4p deletion. Case report and review of the literature.

    Science.gov (United States)

    Dietze, Ilona; Fritz, Barbara; Huhle, Dagmar; Simoens, Wouter; Piecha, Ernestine; Rehder, Helga

    2004-01-01

    Wolf-Hirschhorn (4p-) syndrome (WHS), caused by partial deletion of the short arm of chromosome 4, has been extensively described in children and young adults. Knowledge on fetuses with WHS is still limited due to the small number of published cases. We report on a fetus with prenatally diagnosed severe intrauterine growth retardation, reduced thoracal diameter, clubfeet deformity and midface hypoplasia including slight microretrognathia indicative for fetal karyotyping. Chromosome analysis after amniocentesis revealed a de novo terminal deletion of chromosome 4p [karyotype: 46,XX,del(4) (p16)] which was confirmed by FISH. Analyses of a set of polymorphic markers mapping in 4pter->4p15.3 showed absence of paternal haplotypes. These observations corroborate the preferential paternal origin of the de novo 4p deletion in WHS patients. Furthermore, the distal breakpoint could be narrowed to band 4p16.1. At autopsy, the fetus showed typical craniofacial dysmorphic signs of WHS, severe IUGR and delayed bone age. This report suggests the possibility of recognising the particular phenotype of WHS in utero by prenatal ultrasound and emphasises the importance of karyotyping fetuses with severe IUGR, especially when the amount of amniotic fluid is normal. Copyright 2004 S. Karger AG, Basel

  3. Fibroblasts derived from patients with dysplastic nevus syndrome are not more sensitive towards 254-nm and 312-nm ultraviolet light than fibroblasts from normal donors.

    Science.gov (United States)

    Thielmann, H W; Edler, L; Brucker, A; Jung, E G

    1991-01-01

    DNA repair capacity of 18 fibroblast strains from patients with dysplastic nevus syndrome, 5 of them with malignant melanoma, was investigated and their colony-forming ability (D0) after UV exposure was determined as a measurement of this. Seventeen fibroblast strains from normal donors served as controls. The dose/response experiments included up to 11 dose levels and two UV wavelength ranges: UV-C (using a low-pressure mercury lamp emitting predominantly 254-nm light) and UV-B (artificial "sunlamp" radiation centering around 312-nm light). The exponential segments of the dose/response curves were analysed by linear regression and the negative reciprocals of the regression coefficients, D0, were calculated for each cell strain and each wavelength range. When comparing D0 values of individual cell strains from patients with and without melanomas with the mean value for all normal donors, only 4 out of 18 showed increased sensitivity towards UV-B. This difference, however, was not statistically significant. On the contrary, weighted-mean D0 values for fibroblast strains from patients with and without melanoma were found to be slightly but significantly higher than those for normal donors (significance level: 5%), indicating that cell strains from these patients were less sensitive to UV light (UV-C and UV-B) of both wavelength. This result, which on the basis of current literature data is somewhat unexpected, holds true within the limits of experimental accuracy of +/- 12%.

  4. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

  5. WIEDEMANN SYNDROME

    African Journals Online (AJOL)

    hi-tech

    BILATERAL BENIGN HAEMORRHAGIC ADRENAL CYSTS IN BECKWITH - WIEDEMANN. SYNDROME: CASE REPORT. P. ANOOP and M. A. ANJAY. SUMMARY. Beckwith-Wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, ...

  6. Tourette syndrome

    Science.gov (United States)

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

  7. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

  8. Piriformis Syndrome

    Science.gov (United States)

    ... the National Library of Medicine’s MedlinePlus Piriformis Syndrome Metabolic Syndrome Show More Show Less Search Disorders SEARCH SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Piriformis syndrome ...

  9. Regulation of iNOS-Derived ROS Generation by HSP90 and Cav-1 in Porcine Reproductive and Respiratory Syndrome Virus-Infected Swine Lung Injury.

    Science.gov (United States)

    Yan, Meiping; Hou, Make; Liu, Jie; Zhang, Songlin; Liu, Bang; Wu, Xiaoxiong; Liu, Guoquan

    2017-08-01

    In the lungs, endothelial nitric oxide synthase (eNOS) is usually expressed in endothelial cells and inducible nitric oxide synthase (iNOS) is mainly expressed in alveolar macrophages and epithelial cells. Both eNOS and iNOS are involved in lung inflammation. While they play several roles in lung inflammation formation and resolution, their expression and activity are also regulated by inflammatory factors. Their expression relationship in virus infection-induced lung injury is not well addressed. In this report, we analyzed expression of both eNOS and iNOS, the production of nitric oxide (NO) and reactive oxygen species (ROS), and expression of their associated regulatory proteins, heat shock protein 90 (HSP90) and caveolin-1 (Cav-1), in a swine lung injury model induced by porcine reproductive and respiratory syndrome virus (PRRSV) infection. The combination of upregulation of iNOS and downregulation of eNOS was observed in both natural and experimental PRRSV-infected lungs, while the combination is much enhanced in natural infected lungs. While NO production is much reduced in both infections, ROS was enhanced only in natural infected lungs. Moreover, HSP90 is increased in both natural and experimental infection and less Cav-1 expressed was observed only in the natural PRRSV-infected lungs. Therefore, the increased ROS generation is likely due to the increased iNOS and its unbalanced regulation by HSP90 and Cav-1, and it also likely causes higher endothelial dysfunction in clinical PRRSV-infected lungs.

  10. Molecular analysis of DiGeorge Syndrome-related translocation breakpoints in 22q11.2

    Energy Technology Data Exchange (ETDEWEB)

    Chieffo, C.; Barnoski, B.L.; Emanuel, B.S. [Children`s Hospital of Philadelphia, PA (United States)] [and others

    1994-09-01

    22q11 demonstrates a high frequency of disease-specific rearrangements. Several of the rearrangements are associated with developmental abnormalities such as DiGeorge Syndrome (DGS), Velocardiofacial Syndrome (VCFS), Cat Eye Syndrome (CES) and Supernumerary der(22)t(11;22) Syndrome. DGS and VCFS involve deletions of 22q11.2 resulting from unbalanced translocations or microdeletions. In contrast, CES and Supernumerary der(22)t(11;22) Syndrome result from duplications of this region via inter- or intra- chromosomal exchange. Although the molecular mechanism giving rise to these rearrangements has yet to be elucidated, the presence of known 22q11 repetitive elements are likely to be involved. GM5878 is a 46,XY,t(10;22) cell line from a balanced translocation carrier father of an unbalanced DGS patient. GM0980 is a cell line from a patient with features of DGS/VCFS with an unbalanced karyotype. Using FISH cosmids, we have localized these translocation breakpoints near pH160b (D22S66) which maps to the center of the DiGeorge chromosomal region (DGCR). To further localize the breakpoint of GM5878, overlapping cosmids spanning this region were used as probes for FISH. Use of additional overlapping cosmids allowed the sublocalization of the breakpoint to a 10kb region. A 4.8 kb BglII fragment predicted to cross the breakpoint was isolated. When this fragment was used as a probe to normal and GM5878 DNA, novel bands were detected in GM5878 DNA digested with EcoRI and BglII. Similar analysis of the GM0980 breakpoint is being pursued. Full molecular characterization of these translocations is in progress using inverse PCR to clone the junctional fragments for sequencing. Detailed analysis of the region may reveal molecular features which make this a rearrangement prone area of the genome and help elucidate its relationship to human cytogenetic disease.

  11. Use of BMI as marker of adiposity in a metabolic syndrome severity score: derivation and validation in predicting long-term disease outcomes.

    Science.gov (United States)

    Gurka, Matthew J; Filipp, Stephanie L; Musani, Solomon K; Sims, Mario; DeBoer, Mark D

    2018-02-01

    Estimates of adiposity in evaluating the metabolic syndrome (MetS) have traditionally utilized measures of waist circumference (WC), whereas body mass index (BMI) is more commonly used clinically. Our objective was to determine if a MetS severity Z-score employing BMI as its measure of adiposity (MetS-Z-BMI) would perform similarly to a WC-based score (MetS-Z-WC) in predicting future disease. To formulate the MetS-Z-BMI, we performed confirmatory factor analysis on a sex- and race/ethnicity-specific basis on MetS-related data for 6870 adult participants of the National Health and Nutrition Survey 1999-2010. We then validated this score and compared it to MetS-Z-WC in assessing correlations with future coronary heart disease (CHD) and Type 2 diabetes mellitus (T2DM) using Cox proportional hazard analysis of 13,094 participants of the Atherosclerosis Risk in Communities study and Jackson Heart Study. Loading factors, which represent the relative contribution of each component to the latent MetS factor, were lower for BMI than for WC in formulating the two respective scores (MetS-Z-BMI and MetS-Z-WC). Nevertheless, MetS-Z-BMI and MetS-Z-WC exhibited similar hazard ratios (HR) toward future disease. For each one standard-deviation-unit increase in MetS-Z-BMI, HR for CHD was 1.76 (95% confidence interval [CI]: 1.65, 1.88) and HR for T2DM was 3.39 (CI 3.16, 3.63) (both p BMI scores in their associations with future CHD and T2DM. A MetS severity Z-score utilizing BMI as its measure of adiposity operated similarly to a WC-based score in predicting future CHD and T2DM, suggesting overall similarity in MetS-based risk as estimated by both measures of adiposity. This indicates potential clinical usefulness of MetS-Z-BMI in assessing and following MetS-related risk over time. Copyright © 2018. Published by Elsevier Inc.

  12. Speckle tracking-derived myocardial tissue deformation imaging in twin-twin transfusion syndrome: differences in strain and strain rate between donor and recipient twins.

    Science.gov (United States)

    Rychik, Jack; Zeng, Shi; Bebbington, Michael; Szwast, Anita; Quartermain, Michael; Natarajan, Shobha; Johnson, Mark; Tian, Zhiyun

    2012-01-01

    Twin-twin transfusion syndrome (TTTS) is a complex disorder with altered cardiovascular loading conditions that affects both donors and recipients. Myocardial tissue deformation analysis using vector velocity imaging is an angle-independent, speckle-tracking technique which can assess myocardial mechanics and may provide insight into cardiac dysfunction in TTTS. Digital dynamic two-dimensional four-chamber views were interrogated offline. Images were acquired utilizing standard video frame rates (30 frames/s). The global longitudinal strain, systolic strain rate, and diastolic strain rate were measured in the left (LV) and right ventricles (RV) of 25 fetal pairs with TTTS and compared to 25 gestational age-matched normal controls. Pulsatility indices for the umbilical artery and middle cerebral artery were measured. The gestational age at evaluation was 20.5 ± 1.3 weeks. The donor LV systolic strain rate was higher, while the donor RV diastolic strain rate was significantly lower, than control values. The recipient longitudinal strain, systolic strain rate, and diastolic strain rate were significantly lower for both LV and RV in comparison to controls. The donor umbilical artery pulsatility index was higher than control values (1.92 ± 0.45 vs. 1.41 ± 0.25, p < 0.001), while the donor middle cerebral artery pulsatility index was lower (1.46 ± 0.28 vs. 1.87 ± 0.21). Recipient umbilical artery and middle cerebral artery pulsatility indices were no different than control values. In TTTS, both the donor and the recipient exhibit abnormalities of myocardial tissue deformation with ventricle-specific changes evident based on loading conditions. Donor LV systolic function is hyperdynamic due to hypovolemia and selective ejection into a low-resistance cerebrovascular circuit while the donor RV selectively ejects into a high-resistance placental circuit. Recipient RV and LV are both globally depressed with systolic and diastolic dysfunction. Further prospective

  13. Elevated plasma miRNA-122, -140-3p, -720, -2861, and -3149 during early period of acute coronary syndrome are derived from peripheral blood mononuclear cells.

    Directory of Open Access Journals (Sweden)

    Xiang-Dong Li

    Full Text Available Our previous study has found that circulating microRNA (miRNA, or miR -122, -140-3p, -720, -2861, and -3149 are significantly elevated during early stage of acute coronary syndrome (ACS. This study was conducted to determine the origin of these elevated plasma miRNAs in ACS.qRT-PCR was performed to detect the expression profiles of these 5 miRNAs in liver, spleen, lung, kidney, brain, skeletal muscles, and heart. To determine their origins, these miRNAs were detected in myocardium of acute myocardial infarction (AMI, and as well in platelets and peripheral blood mononuclear cells (PBMCs, including monocytes, circulating endothelial cells (CECs and lymphocytes of the AMI pigs and ACS patients.MiR-122 was specifically expressed in liver, and miR-140-3p, -720, -2861, and -3149 were highly expressed in heart. Compared with the sham pigs, miR-122 was highly expressed in the border zone of the ischemic myocardium in the AMI pigs without ventricular fibrillation (P < 0.01, miR-122 and -720 were decreased in platelets of the AMI pigs, and miR-122, -140-3p, -720, -2861, and -3149 were increased in PBMCs of the AMI pigs (all P < 0.05. Compared with the non-ACS patients, platelets miR-720 was decreased and PBMCs miR-122, -140-3p, -720, -2861, and -3149 were increased in the ACS patients (all P < 0.01. Furthermore, PBMCs miR-122, -720, and -3149 were increased in the AMI patients compared with the unstable angina (UA patients (all P < 0.05. Further origin identification revealed that the expression levels of miR-122 in CECs and lymphocytes, miR-140-3p and -2861 in monocytes and CECs, miR-720 in monocytes, and miR-3149 in CECs were greatly up-regulated in the ACS patients compared with the non-ACS patients, and were higher as well in the AMI patients than that in the UA patients except for the miR-122 in CECs (all P < 0.05.The elevated plasma miR-122, -140-3p, -720, -2861, and -3149 in the ACS patients were mainly originated from CECs and monocytes.

  14. Familial Follicular-Cell Derived Carcinoma

    Directory of Open Access Journals (Sweden)

    Eun Ju eSon

    2012-05-01

    Full Text Available Follicular cell-derived well-differentiated thyroid cancer, papillary (PTC and follicular thyroid carcinomas (FTC compose 95% of all thyroid malignancies. Familial follicular cell-derived well-differentiated thyroid cancers contribute to 5% of those cases. These familial follicular cell derived carcinomas or non-medullary thyroid carcinomas (NMTC divide into two clinical-pathological groups. One group, syndromic-associated, composed by predominately non-thyroidal tumors, is comprised of Pendred syndrome, Warner syndrome, Carney complex type 1, PTEN-hamartoma tumor syndrome (Cowden disease; PHTS, familial adenomatous polyposis (FAP/Gardner syndrome. Additionally other less established links correlated to the development of follicular cell-derived tumors have also included Ataxia-teleangiectasia syndrome, McCune Albright syndrome, and Peutz-Jeghers syndrome. The subsequent group encompasses syndromes typified by non-medullary thyroid carcinomas or NMTC, as well as, pure familial (f PTC with or without oxyphilia, fPTC with multinodular goiter and fPTC with papillary renal cell carcinoma. This heterogeneous group of diseases has not a established genotype-phenotype correlation as the well-known genetic events identified in the familial C-cell-derived tumors or medullary thyroid carcinomas (MTC. Clinicians should be have the knowledge to identify the likelihood of a patient presenting with thyroid cancer having an additional underlying familial syndrome stemming from characteristics through morphological findings that would alert the pathologist to have the patient undergo subsequent molecular genetics evaluations. This review will discuss the clinical and pathological findings of the patients with familial papillary thyroid carcinoma, such as familial adenomatous polyposis, Carney complex, Werner syndrome, and Pendred syndrome and the heterogeneous group of familial papillary thyroid carcinoma.

  15. Tools for the identification of bioactives impacting the metabolic syndrome: Screening of a botanical extract library using subcutaneous and visceral human adipose-derived stem cell based assays

    Science.gov (United States)

    Buehrer, Benjamin M.; Duffin, David J.; Lea-Currie, Y. Renee; Ribnicky, David; Raskin, Ilya; Stephens, Jacqueline M.; Cefalu, William T.; Gimble, Jeffrey M.

    2011-01-01

    Plant extracts continue to represent an untapped source of renewable therapeutic compounds for the treatment and prevention of illnesses including chronic metabolic disorders. With the increase in worldwide obesity and its related morbidities, the need for identifying safe and effective treatments is also rising. As such, use of primary human adipose-derived stem cells represents a physiologically relevant cell system to screen for bioactive agents in the prevention and treatment of obesity and its related complications. By using these cells in a primary screen, the risk and cost of identifying artifacts due to interspecies variation and immortalized cell lines is eliminated. We demonstrate that these cells can be formatted into 384-well high throughput screens to rapidly identify botanical extracts that affect lipogenesis and lipolysis. Additionally, counterscreening with human primary stem cells from distinct adipose depots can be routinely performed to identify tissue specific responses. In our study, over 500 botanical extracts were screened and 16 (2.7%) were found to affect lipogenesis and 4 (0.7%) affected lipolysis. PMID:21543201

  16. Quantitative texture analysis of brain white matter lesions derived from T2-weighted MR images in MS patients with clinically isolated syndrome.

    Science.gov (United States)

    Loizou, C P; Petroudi, S; Seimenis, I; Pantziaris, M; Pattichis, C S

    2015-04-01

    This study investigates the application of texture analysis methods on brain T2-white matter lesions detected with magnetic resonance imaging (MRI) for the prognosis of future disability in subjects diagnosed with clinical isolated syndrome (CIS) of multiple sclerosis (MS). Brain lesions and normal appearing white matter (NAWM) from 38 symptomatic untreated subjects diagnosed with CIS as well as normal white matter (NWM) from 20 healthy volunteers, were manually segmented, by an experienced MS neurologist, on transverse T2-weighted images obtained from serial brain MR imaging scans (0 and 6-12 months). Additional clinical information in the form of the Expanded Disability Status Scale (EDSS), a scale from 0 to 10, which provides a way of quantifying disability in MS and monitoring the changes over time in the level of disability, were also provided. Shape and most importantly different texture features including GLCM and laws were then extracted for all above regions, after image intensity normalization. The findings showed that: (i) there were significant differences for the texture futures extracted between the NAWM and lesions at 0 month and between NAWM and lesions at 6-12 months. However, no significant differences were found for all texture features extracted when comparing lesions temporally at 0 and 6-12 months with the exception of contrast (gray level difference statistics-GLDS) and difference entropy (spatial gray level dependence matrix-SGLDM); (ii) significant differences were found between NWM and NAWM for most of the texture features investigated in this study; (iii) there were significant differences found for the lesion texture features at 0 month for those with EDSS≤2 versus those with EDSS>2 (mean, median, inverse difference moment and sum average) and for the lesion texture features at 6-12 months with EDSS>2 and EDSS≤2 for the texture features (mean, median, entropy and sum average). It should be noted that whilst there were no differences

  17. Drop of egg production in chickens by experimental infection with an avian metapneumovirus strain PLE8T1 derived from swollen head syndrome and the application to evaluate vaccine.

    Science.gov (United States)

    Sugiyama, Miki; Koimaru, Hiroyuki; Shiba, Masahiro; Ono, Eriko; Nagata, Tadashi; Ito, Toshihiro

    2006-08-01

    Decreases in egg production and increased incidence of abnormal eggs due to malformation of egg shells were observed in specific pathogen free (SPF) 173-day-old laying hens inoculated intravenously with an avian metapneumovirus (aMPV) strain PLE8T1. This strain was derived from an isolate from broiler birds exhibiting swollen head syndrome (SHS). Some SPF birds inoculated with the virus showed, slight diarrhea without any respiratory symptoms. Thus, the PLE8T1 strain was used as a challenge virus to evaluate efficacy of aMPV vaccines. SPF chickens which received a live attenuated aMPV vaccine (NEMOVAC; Merial) at 7 or 77 days old and an inactivated aMPV vaccine (OVO-4; Merial) at 105 days old were protected against poor egg production caused by the challenge with the PLE8T1 strain. Thus, aMPV, the PLE8T1 strain passaged 22 times after isolation, from birds exhibiting SHS, could induce a drop in egg production in laying hens accompanied by malformation of egg shells. It was suggested that this challenge system could be applied to evaluate the efficacy of aMPV vaccine.

  18. Characterization of a novel KCNQ1 mutation for type 1 long QT syndrome and assessment of the therapeutic potential of a novel IKs activator using patient-specific induced pluripotent stem cell-derived cardiomyocytes.

    Science.gov (United States)

    Ma, Dongrui; Wei, Heming; Lu, Jun; Huang, Dou; Liu, Zhenfeng; Loh, Li Jun; Islam, Omedul; Liew, Reginald; Shim, Winston; Cook, Stuart A

    2015-03-19

    Type 1 long QT syndrome (LQT1) is a common type of cardiac channelopathy associated with loss-of-function mutations of KCNQ1. Currently there is a lack of drugs that target the defected slowly activating delayed rectifier potassium channel (IKs). With LQT1 patient-specific human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes (hiPSC-CMs), we tested the effects of a selective IKs activator ML277 on reversing the disease phenotypes. A LQT1 family with a novel heterozygous exon 7 deletion in the KCNQ1 gene was identified. Dermal fibroblasts from the proband and her healthy father were reprogrammed to hiPSCs and subsequently differentiated into hiPSC-CMs. Compared with the control, LQT1 patient hiPSC-CMs showed reduced levels of wild type KCNQ1 mRNA accompanied by multiple exon skipping mRNAs and a ~50% reduction of the full length Kv7.1 protein. Patient hiPSC-CMs showed reduced IKs current (tail current density at 30 mV: 0.33±0.02 vs. 0.92±0.21, PKCNQ1, we generated hiPSC-CMs that faithfully recapitulated the LQT1 phenotypes that are likely associated with haploinsufficiency and trafficking defect of KCNQ1/Kv7.1. The small molecule ML277 restored IKs function in hiPSC-CMs and could have therapeutic value for LQT1 patients.

  19. The Cladophora glomerata Enriched by Biosorption Process in Cr(III Improves Viability, and Reduces Oxidative Stress and Apoptosis in Equine Metabolic Syndrome Derived Adipose Mesenchymal Stromal Stem Cells (ASCs and Their Extracellular Vesicles (MV’s

    Directory of Open Access Journals (Sweden)

    Krzysztof Marycz

    2017-12-01

    Full Text Available This study investigated in vitro effects of freshwater alga Cladophora glomerata water extract enriched during a biosorption process in Cr(III trivalent chromium and chromium picolinate on adipose-derived mesenchymal stromal stem cells (ASCs and extracellular microvesicles (MVs in equine metabolic syndrome-affected horses. Chemical characterisation of natural Cladophora glomerata was performed with special emphasis on: vitamin C, vitamin E, total phenols, fatty acids, free and protein-bound amino acids as well as measured Cr in algal biomass. To examine the influence of Cladophora glomerata water extracts, in vitro viability, oxidative stress factor accumulation, apoptosis, inflammatory response, biogenesis of mitochondria, autophagy in ASCs of EMS and secretory activity manifested by MV release were investigated. For this purpose, various methods of molecular biology and microscopic observations (i.e., immunofluorescence staining, SEM, TEM, FIB observations, mRNA and microRNA expression by RT-qPCR were applied. The extract of Cladophora glomerata enriched with Cr(III ions reduced apoptosis and inflammation in ASCs of EMS horses through improvement of mitochondrial dynamics, decreasing of PDK4 expression and reduction of endoplastic reticulum stress. Moreover, it was found, that Cladophora glomerata and Cr(III induce antioxidative protection coming from enhanced SOD activity Therefore, Cladophora glomerata enriched with Cr(III ions might become an interesting future therapeutic agent in the pharmacological treatment of EMS horses.

  20. Fusión de un tercer molar mandibular con un cuarto molar supernumerario Fusion of mandibular third molar with supernumerary fourth molar

    Directory of Open Access Journals (Sweden)

    C. López Carriches

    2008-10-01

    Full Text Available La fusión dental es la unión de dos gérmenes dentales normalmente separados, mientras que la geminación se define como el intento de división de un único germen dental. La fusión y geminación de molares es poco frecuente en la dentición permanente. Describimos un caso clínico de un tercer molar inferior derecho fusionado a un cuarto molar supernumerario en un paciente varón de 36 años que ha presentado repetidos episodios de pericoronaritis. Tras el estudio radiológico se realiza la exodoncia del cordal semiincluido bajo anestesia local. Llevamos a cabo una revisión bibliográfica al respecto.Dental fusion is the union of two tooth buds that normally are separated, while gemination is defined as an attempt by a single tooth bud to divide. The fusion and gemination of molars is uncommon in permanent teeth. We report a clinical case of a right lower third molar fused to a supernumerary fourth molar in a 36-year-old male patient with repeated episodes of inflammation. After the radiologic study, the semi-impacted third molar was extracted under local anesthesia. The literature was reviewed.

  1. Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies.

    Science.gov (United States)

    Jaiswal, Sushil Kumar; Kumar, Ashok; Ali, Akhtar; Rai, Amit Kumar

    2015-03-15

    The present study deals with karyotpye-phenotype correlations in a six month old child with multiple congenital abnormalities. Cytogenetic analysis revealed mosaicism of a small metacentric supernumerary marker chromosome with a karyotype mos 47,XY+mar[34]/46,XY[31]. Cytogenetic microarray result showed three copies of chromosome 18p (15,400 kb in size). Moreover, 255 kbp intermittent deletion of chromosome 2q13 involving RGPD5, RGPD6, LIMS3, and LIMS3-LOC440895 was also observed. Correlating microarray data with the mosaic karyotype, the marker chromosome was identified as mosaic isochromosome 18p and was found to be 32,600 kbp in size. Baby resembled clinical characteristics of trisomy chromosome 18p, isochromosome 18p and trisomy chromosome 18. The present study suggested that deletion of evolutionarily conserved developmental genes (RGPD5, RGPD and LIMS3) in the 2q13 region might have contributed to more severity in phenotype as compared to so far such reported cases of 18p trisomy's, as these are involved in nuclear-cytoplasm trafficking, signaling for tissue patterning and differentiation. Copyright © 2015 Elsevier B.V. All rights reserved.

  2. Hemoglobin derivatives

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/003371.htm Hemoglobin derivatives To use the sharing features on this page, please enable JavaScript. Hemoglobin derivatives are altered forms of hemoglobin . Hemoglobin is ...

  3. Pharmacology of Reye syndrome.

    Science.gov (United States)

    Pranzatelli, M R; De Vivo, D C

    1987-04-01

    Reye syndrome, a reversible metabolic encephalopathy and hepatopathy, offers a unique opportunity to investigate the pharmacologic mechanisms by which a toxic-metabolic insult to mitochondria is translated into neurochemical and neurologic dysfunction. Similarity of some clinical and metabolic abnormalities between certain inborn errors of organic acid, ammonia, and carbohydrate metabolism and Reye syndrome suggests a common pathophysiologic mechanism at some level. The primary metabolic aberration in Reye syndrome is unknown. Viral, drug, and toxic precipitants in a conductive host alter glial and neuronal function, possibly by direct toxic effects or by altered transmitter metabolism and signal transduction. These events translate into a rather stereotyped progression of the clinical syndrome. Increased ICP, which is a life-threatening epiphenomenon, is the focus of conventional therapy. Investigational treatments, still in preliminary stages, are aimed at early correction of instigating metabolic abnormalities or correction of their consequences on central neurotransmission. Our fragmentary knowledge of neurotransmitter abnormalities in this disorder, which have suggested disparate interpretations, does not allow a cohesive pharmacologic theory of Reye syndrome. The greatest difficulties in interpretation of possible central mechanisms from existing data, which derive largely from peripheral tissues, is in the differentiation of primary from compensatory changes. The unitarian notion that a single pharmacologic disturbance is the source of the encephalopathy is perhaps too simplistic. It is hoped that future studies of disorders such as Reye syndrome will elucidate the intricate relationships between biochemical pathways and neurotransmitter metabolism.

  4. Myelodysplastic Syndromes

    Science.gov (United States)

    ... blood cells, and the cells have a specific mutation in their DNA. Myelodysplastic syndrome with excess blasts — ... Chemicals linked to myelodysplastic syndromes include tobacco smoke, pesticides and industrial chemicals, such as benzene. Exposure to ...

  5. Moebius Syndrome

    Science.gov (United States)

    ... and supports a broad range of research on neurogenetic disorders, including Moebius syndrome. The goals of these ... and supports a broad range of research on neurogenetic disorders, including Moebius syndrome. The goals of these ...

  6. Pendred Syndrome

    Science.gov (United States)

    ... scan) to look for two characteristics of Pendred syndrome. One characteristic might be a cochlea with too few turns. ... Inner Ear Credit: NIH Medical Arts A second characteristic of Pendred syndrome is an enlarged vestibular aqueduct (see figure). The ...

  7. Rett Syndrome

    Science.gov (United States)

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and ...

  8. Ohtahara Syndrome

    Science.gov (United States)

    ... but be profoundly handicapped. As they grow, some children will progress into other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome. What research is being done? The NINDS conducts and supports an extensive research program on seizures ...

  9. Gardner's syndrome

    International Nuclear Information System (INIS)

    Sobrado Junior, C.W.; Bresser, A.; Cerri, G.G.; Habr-Gama, A.; Pinotti, H.W.; Magalhaes, A.

    1988-01-01

    A case of familiar poliposis of colon related to a right mandibular osteoma is reported (this association is usually called Gardner's syndrome). Radiologic pictures ae shown and some commentaries about this syndrome concerning the treatment are made. (author) [pt

  10. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X ... work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  11. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions ... agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  12. Felty syndrome

    Science.gov (United States)

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  13. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that ... your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  14. Usher Syndrome

    Science.gov (United States)

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  15. Piriformis syndrome

    Science.gov (United States)

    Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...

  16. Dressler's Syndrome

    Science.gov (United States)

    ... syndrome Overview Dressler's syndrome is a type of pericarditis — inflammation of the sac surrounding the heart (pericardium). ... reducing its ability to pump blood efficiently. Constrictive pericarditis. Recurring or chronic inflammation can cause the pericardium ...

  17. International Rett Syndrome Foundation

    Science.gov (United States)

    ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ...

  18. [Capgras syndrome].

    Science.gov (United States)

    Alcoverro Fortuny, O; Sierra Acín, A C

    2001-01-01

    The authors report a case of Capgras' syndrome in a 16-years-old child, who had been hospitalized for psychotic disorder. A review of the literature is performed. Most authors state that Capgras' syndrome would represent a symptom of underlying medical o functional disorders, although the term syndrome is used. The main etiopathogenic hypothesis of this syndrome are put forward (psychodynamic, disconnection, neuropsychological and medical).

  19. Velocardiofacial Syndrome

    Science.gov (United States)

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  20. Financial derivatives

    OpenAIRE

    Koutný, Ondřej

    2012-01-01

    1 Abstract/ Financial derivatives The purpose of this thesis is to provide an introduction to financial derivatives which has been, from the legal perspective, described in a not satisfactory manner as quite little literature that can be found about this topic. The main objectives of this thesis are to define the term "financial derivatives" and its particular types and to analyse legal nature of these financial instruments. The last objective is to try to draft future law regulation of finan...