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Sample records for disorders xeroderma pigmentosum

  1. Xeroderma pigmentosum

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    Lehmann Alan R

    2011-11-01

    Full Text Available Abstract Xeroderma pigmentosum (XP is defined by extreme sensitivity to sunlight, resulting in sunburn, pigment changes in the skin and a greatly elevated incidence of skin cancers. It is a rare autosomal recessive disorder and has been found in all continents and racial groups. Estimated incidences vary from 1 in 20, 000 in Japan to 1 in 250, 000 in the USA, and approximately 2.3 per million live births in Western Europe. The first features are either extreme sensitivity to sunlight, triggering severe sunburn, or, in patients who do not show this sun-sensitivity, abnormal lentiginosis (freckle-like pigmentation due to increased numbers of melanocytes on sun-exposed areas. This is followed by areas of increased or decreased pigmentation, skin aging and multiple skin cancers, if the individuals are not protected from sunlight. A minority of patients show progressive neurological abnormalities. There are eight XP complementation groups, corresponding to eight genes, which, if defective, can result in XP. The products of these genes are involved in the repair of ultraviolet (UV-induced damage in DNA. Seven of the gene products (XPA through G are required to remove UV damage from the DNA. The eighth (XPV or DNA polymerase η is required to replicate DNA containing unrepaired damage. There is wide variability in clinical features both between and within XP groups. Diagnosis is made clinically by the presence, from birth, of an acute and prolonged sunburn response at all exposed sites, unusually early lentiginosis in sun-exposed areas or onset of skin cancers at a young age. The clinical diagnosis is confirmed by cellular tests for defective DNA repair. These features distinguish XP from other photodermatoses such as solar urticaria and polymorphic light eruption, Cockayne Syndrome (no pigmentation changes, different repair defect and other lentiginoses such as Peutz-Jeghers syndrome, Leopard syndrome and Carney complex (pigmentation not sun

  2. Xeroderma pigmentosum. Case presentation.

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    Damaris Díaz Leonard

    2008-08-01

    Full Text Available Twelve years old patient (YGS, female, white, of rural origin; with history of facial and truncal bullae since the age of eight months when exposed to the sun light. It was first diagnosed as solar dermatitis. At the age of 6 it was assessed as xeroderma pigmentosum. This diagnosis was confirmed at the age of 10 by the histopathology department and reassessed by the National Reference Centre. For the infrequency of this disease, a bibliographic revision was carried out to make a report for this case presentation.

  3. Cutaneous cancer and xeroderma pigmentosum; Cancer cutane et xeroderma pigmentosum

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    Ben Salah, H.; Bahri, M.; Mnejja, W.; Siala, W.; Daoud, J. [Centre Hospitalier Universitaire Habib-Bourguiba, Service de Radiotherapie Carcinologique, Sfax (Tunisia); Sallemi, T. [Centre Hospitalier Universitaire Habib-Bourguiba, Service d' Anatomie Pathologique, Sfax (Tunisia); Turki, H. [Centre Hospitalier Universitaire Habib-Bourguiba, Service de Dermatologie, Sfax (Tunisia)

    2007-11-15

    The cutaneous cancer at the patients affected by xeroderma pigmentosum is characterized by its multifocal character and its strong radiosensitivity. A premature care and a regular follow-up for life of these patients is indispensable for the detection and the treatment of new hurts. The precautionary measures are also important by the school eviction. (N.C.)

  4. Genetics Home Reference: xeroderma pigmentosum

    Science.gov (United States)

    ... of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. The signs of xeroderma pigmentosum usually appear in infancy or early childhood. Many affected children develop a severe sunburn after spending just a few minutes in the sun. The ...

  5. A RARE CASE REPORT OF XERODERMA PIGMENTOSUM WITH STRONG FAMILIAL ASSOCIATION

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    Basavaraj R

    2014-11-01

    Full Text Available : Xeroderma pigmentosum (XP was first described in 1874 by Hebra and Kaposi. In 1882, Kaposi coined the term xeroderma pigmentosum for the condition, referring to its characteristic dry, pigmented skin. Xeroderma pigmentosum is a rare disorder transmitted in an autosomal recessive manner. It is characterized by photosensitivity, pigmentary changes, premature skin aging, and malignant tumor development

  6. Rapid diagnosis of sensitivity to ultraviolet light in fibroblasts from dermatologic disorders, with particular reference to xeroderma pigmentosum

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    Cleaver, J.E.; Thomas, G.H.

    1988-04-01

    A rapid and simple method for determining the sensitivity of human fibroblasts to ultraviolet light is described. As an alternative to the colony formation assay, this method can be used for the rapid diagnosis of ultraviolet light sensitivity in fibroblasts from photosensitive disorders. The method is based on growth of small numbers of cells in 1-cm wells of culture trays for 4 or more days after irradiation and determination of cell survival by the incorporation of (/sup 3/H)hypoxanthine. D37 values (the dose at which 37% of the control level of incorporation remains) obtained from this procedure showed the same relative sensitivity of normal and xeroderma pigmentosum fibroblasts as was obtained by colony formation. Untransformed and SV40-transformed fibroblasts, which have different growth rates and different responses to high cell densities, gave different D37 values by this assay in culture trays as compared with colony formation. Comparison of relative sensitivities to irradiation should therefore be made only between cell types with similar growth characteristics. The similar sensitivity of normal and xeroderma pigmentosum cells to mitomycin C was also determined by this culture tray method. By increasing cell density at the beginning of the experiments, a greater capacity of group C compared with group D fibroblasts for recovery from potentially lethal damage was also detected.

  7. Gene Expression Profiling of Xeroderma Pigmentosum

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    Bowden Nikola A

    2006-05-01

    Full Text Available Abstract Xeroderma pigmentosum (XP is a rare recessive disorder that is characterized by extreme sensitivity to UV light. UV light exposure results in the formation of DNA damage such as cyclobutane dimers and (6-4 photoproducts. Nucleotide excision repair (NER orchestrates the removal of cyclobutane dimers and (6-4 photoproducts as well as some forms of bulky chemical DNA adducts. The disease XP is comprised of 7 complementation groups (XP-A to XP-G, which represent functional deficiencies in seven different genes, all of which are believed to be involved in NER. The main clinical feature of XP is various forms of skin cancers; however, neurological degeneration is present in XPA, XPB, XPD and XPG complementation groups. The relationship between NER and other types of DNA repair processes is now becoming evident but the exact relationships between the different complementation groups remains to be precisely determined. Using gene expression analysis we have identified similarities and differences after UV light exposure between the complementation groups XP-A, XP-C, XP-D, XP-E, XP-F, XP-G and an unaffected control. The results reveal that there is a graded change in gene expression patterns between the mildest, most similar to the control response (XP-E and the severest form (XP-A of the disease, with the exception of XP-D. Distinct differences between the complementation groups with neurological symptoms (XP-A, XP-D and XP-G and without (XP-C, XP-E and XP-F were also identified. Therefore, this analysis has revealed distinct gene expression profiles for the XP complementation groups and the first step towards understanding the neurological symptoms of XP.

  8. Recurrent conjunctival atypical fibroxanthoma in Pigmentosum Xeroderma.

    Science.gov (United States)

    Cerdà-Ibáñez, M; Barreiro-González, A; Barranco González, H; Aviñó Martínez, J; Évole-Buselli, M; Harto-Castaño, M Á

    2017-08-23

    A 7 year-old boy with Xeroderma Pigmentosum (XP) and who presents a recurrent conjunctival atypical fibroxanthoma after two surgeries. This is the third procedure and the patient is treated with a surgical excision of the tumour and cryotherapy at the surgical bed. Due to the risk of recurrence, topical Mitomycin C 0,02% was added at post-operative care achieving a good clinical outcome. Surgical exeresis with cryotherapy and topical Mitomycin C is an effective treatment for a case of an atypical fibroxanthoma with a high potential for recurrence and invasion. An ophthalmologic follow-up is required for these patients, as well as general paediatric care and support aids. Copyright © 2017 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  9. Radiotherapy for cutaneous cancers with xeroderma pigmentosum; Radiotherapie des cancers cutanes au cours du xeroderma pigmentosum

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    Ben Salah, H.; Bahri, M.; Turki, H.; Abdelmoula, M.; Frikha, M.; Daoud, J. [Service de radiotherapie, CHU Habib-Bourguiba, route Majida-Bouleila, 3029 Sfax (Tunisia)

    2011-08-15

    Purpose. - To analyze the therapeutic results of cutaneous cancers on xeroderma pigmentosum through a series of 15 patients treated by radiotherapy. Patients and methods. - Between 1993 and 2006, 15 patients with xeroderma pigmentosum and having cutaneous cancers were treated in the Radiotherapy Department of university hospital Habib-Bourguiba of Sfax in Tunisia. Seventy-three percent of the cases occurred in male patients and the mean age of appearance of the first tumour was 18.2 years. Tumour histology was squamous cell carcinoma in 74% of the cases. The total number of cutaneous tumours was 84. Ten patients had a surgical resection. Four patients did not respond to chemotherapy. The modality of irradiation was decided according to the size, thickness and localization of the tumour. The dose of radiotherapy was 60 Gy or equivalent with classic irradiation. Results. - The total number of lesions treated with radiotherapy was 64. Forty-three lesions were treated with contact-therapy, ten with brachytherapy and 11 with cobalt-therapy. The following acute complications were observed: cutaneous infection (53.3% of patients), radio-epithelitis (80% of patients) and necroses (33.3% of patients). Evaluation after treatment showed a clinical complete remission in 73% of the cases. Late effects were noted in seven cases: telangiectasia and cutaneous atrophy. A recurrence in the irradiated zone was observed in one case. A nodal metastasis was observed in two cases. Another patient presented lung metastases. After a median follow up of 37.2 months, four patients died, seven are alive with cutaneous cancer and four are alive with complete remission. Conclusion. - Radiotherapy is a possible and effective therapeutic alternative. Dose and methods are not defined for xeroderma pigmentosum. (authors)

  10. Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

    NARCIS (Netherlands)

    H. Fassihi (H.); M. Sethi (M.); H. Fawcett (Heather); J. Wing (Jonathan); N. Chandler (Natalie); S. Mohammed (Shehla); E. Craythorne (Emma); A.M.S. Morley (Ana M.S.); R. Lim (Rongxuan); S. Turner (Sally); T. Henshaw (Tanya); I. Garrood (Isabel); P. Giunti (Paola); T. Hedderly (Tammy); A. Abiona (Adesoji); H. Naik (Harsha); G. Harrop (Gemma); D. McGibbon (D.); N.G.J. Jaspers (Nicolaas); E. Botta (Elena); T. Nardo (Tiziana); M. Stefanini (Miria); A.R. Young (Antony R.); R. Sarkany (R.); A.R. Lehmann (Alan)

    2016-01-01

    textabstractXeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by increased susceptibility to UV radiation (UVR)-induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Genetically, it is assigned to eight

  11. Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

    NARCIS (Netherlands)

    H. Fassihi (H.); M. Sethi (M.); H. Fawcett (Heather); J. Wing (Jonathan); N. Chandler (Natalie); S. Mohammed (Shehla); E. Craythorne (Emma); A.M.S. Morley (Ana M.S.); R. Lim (Rongxuan); S. Turner (Sally); T. Henshaw (Tanya); I. Garrood (Isabel); P. Giunti (Paola); T. Hedderly (Tammy); A. Abiona (Adesoji); H. Naik (Harsha); G. Harrop (Gemma); D. McGibbon (D.); N.G.J. Jaspers (Nicolaas); E. Botta (Elena); T. Nardo (Tiziana); M. Stefanini (Miria); A.R. Young (Antony R.); R. Sarkany (R.); A.R. Lehmann (Alan)

    2016-01-01

    textabstractXeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by increased susceptibility to UV radiation (UVR)-induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Genetically, it is assigned to eight com

  12. Xeroderma pigmentosum group A correcting protein from Calf Thymus.

    NARCIS (Netherlands)

    A.P.M. Eker (André); W. Vermeulen (Wim); N. Miura; K. Tanaka (Kiyoji); N.G.J. Jaspers (Nicolaas); J.H.J. Hoeijmakers (Jan); D. Bootsma (Dirk)

    1992-01-01

    textabstractA proteinous factor was purified from calf thymus and HeLa cells, which specifically corrects the excision repair defect of xeroderma pigmentosum complementation group A (XP-A) cells. Recovery of UV-induced unscheduled DNA synthesis after microinjection of XP-A cells was used as a quanti

  13. Xeroderma Pigmentosum: Man Deprived of His Right to Light

    Science.gov (United States)

    Mareddy, Subhash; Reddy, Jithendra; Babu, Subhas; Balan, Preethi

    2013-01-01

    Xeroderma pigmentosum (XP) is a hereditary autosomal recessive disorder characterized by photo hypersensitivity of sun exposed tissues and subsequent several-fold increased risk for malignant changes resulting from impaired ability to repair UV-induced DNA damage. Estimated incidences vary from 1 in 20,000 in Japan to 1 in 250,000 in the USA, and approximately 2.3 per million live births in Western Europe. Diagnosis is made clinically by the presence of unusual sunburns or lentiginosis or onset of cancers at an early age. It is confirmed by cellular tests for defective DNA repair. Although there is no cure for XP as of now, skin problems can be ameliorated with the use of sunscreens, sun avoidance methods, and recurrent tumor excisions. Oral isotretinoin and topical application of 5-fluorouracil to treat actinic keratoses are other therapeutic options. T4N5 and photolyase liposomal lotions are innovations in the therapy of XP. Genetic counselling implicating the effect of consanguineous marriages should be considered in the management of XP patients. PMID:24459435

  14. Cloning and characterization of the Drosophila homolog of the xeroderma pigmentosum complementation group B correcting gene, ERCC3.

    NARCIS (Netherlands)

    M.H.M. Koken (Marcel); C. Vreeken; S.A.M. Bol (Sandra); N.C. Cheng (Ngan Ching); I. Jaspers-Dekker (Iris); J.H.J. Hoeijmakers (Jan); J.C.J. Eeken; G. Weeda (Geert); A. Pastink (Albert)

    1992-01-01

    textabstractPreviously the human nucleotide excision repair gene ERCC3 was shown to be responsible for a rare combination of the autosomal recessive DNA repair disorders xeroderma pigmentosum (complementation group B) and Cockayne's syndrome (complementation group C). The human and mouse ERCC3 prote

  15. Chromosomal localization of three repair genes: the xeroderma pigmentosum group C gene and two human homologs of yeast RAD23.

    NARCIS (Netherlands)

    P.J. van der Spek (Peter); E.M.E. Smit (Elisabeth); H.B. Beverloo (Berna); K. Sugasawa (Kaoru); C. Matsutani; F. Hanaoka (Fumio); J.H.J. Hoeijmakers (Jan); A. Hagemeier

    1994-01-01

    textabstractThe nucleotide excision repair (NER) disorder xeroderma pigmentosum (XP) is characterized by sun (UV) sensitivity, predisposition to skin cancer, and extensive genetic heterogeneity. Recently, we reported the cloning and analysis of three human NER genes, XPC, HHR23A, and HHR23B. The

  16. Xeroderma pigmentosum complementation group G associated with Cockayne syndrome

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    Vermeulen, W.; Jaspers, N.G.J.; Bootsma, D.; Hoeijmakers, J.H.J. (Erasmus Univ., Rotterdam (Belgium)); Jaeken, J. (Univ. Hospital Gasthuisberg, Leuven (Belgium))

    1993-07-01

    Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are two rare inherited disorders with a clinical and cellular hypersensitivity to the UV component of the sunlight spectrum. Although the two traits are generally considered as clinically and genetically distinct entities, on the biochemical level a defect in the nucleotide excision-repair (NER) pathway is involved in both. Classical CS patients are primarily deficient in the preferential repair of DNA damage in actively transcribed genes, whereas in most XP patients the genetic defect affects both [open quotes]preferential[close quotes] and [open quotes]overall[close quotes] NER modalities. Here the authors report a genetic study of two unrelated, severely affected patients with the clinical characteristics of CS but with a biochemical defect typical of XP. By complementation analysis, using somatic cell fusion and nuclear microinjection of cloned repair genes, they assign these two patients to XP complementation group G, which previously was not associated with CS. This observation extends the earlier identification of two patients with a rare combined XP/CS phenotype within XP complementation groups B and D, respectively. It indicates that some mutations in at least three of the seven genes known to be involved in XP also can result in a picture of partial or even full-blown CS. It is concluded that the syndromes XP and CS are biochemically closely related and may be part of a broader clinical disease spectrum. The authors suggest, as a possible molecular mechanism underlying this relation, that the XPGC repair gene has an additional vital function, as shown for some other NER genes. 33 refs., 5 tabs.

  17. Eyelid reconstruction in a child with xeroderma pigmentosum.

    Science.gov (United States)

    Sánchez Cañal, B; Monts Cambero, N E; Carrión Campo, R; Saldaña Garrido, J D

    2016-09-01

    Seven-year-old male patient, affected by xeroderma pigmentosum (XP) who was referred to ophthalmology due to the presence of numerous tumours in his left eye that affected the eyelids and conjunctiva. He had a tumour in his lower eyelid that affected the free edge, creating a secondary ectropion, and several lesions with a melanocytic appearance in conjunctiva. A resection of the eyelid tumour and the conjunctival lesions were performed by placing a skin graft and amniotic membrane, respectively, as covering. XP patients have high probability of developing eye tumours. A thorough ophthalmic examination is necessary to establish an early diagnosis. Copyright © 2016 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.

  18. A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription.

    NARCIS (Netherlands)

    J.R. Hwang; V. Moncollin; W. Vermeulen (Wim); T. Seroz; H. van Vuuren; J.H.J. Hoeijmakers (Jan); J-M. Egly (Jean-Marc)

    1996-01-01

    textabstractXPB is a subunit of the basal transcription factor TFIIH, which is also involved in nucleotide excision repair (NER) and potentially in cell cycle regulation. A frameshift mutation in the 3'-end of the XPB gene is responsible for a concurrence of two disorders: xeroderma pigmentosum (XP)

  19. Establishment and characterization of melanoma cell line from a xeroderma pigmentosum patient: activation of N-ras at a potential pyrimidine dimer site.

    NARCIS (Netherlands)

    W. Keijzer; M.P. Mulder; J.C.M. Langeveld; E.M.E. Smit (Elisabeth); J.L. Bos; D. Bootsma (Dirk); J.H.J. Hoeijmakers (Jan)

    1989-01-01

    textabstractPatients suffering from the genetic disorder xeroderma pigmentosum (XP) display an extreme sensitivity of their skin to sun (UV) exposure and predisposition to skin cancer due to deficiencies in the excision DNA repair pathway. Here we describe the establishment and characterization of t

  20. Squamous Cell Carcinoma in African Children with Xeroderma Pigmentosum: Three Case Reports

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    Mamadou Kaloga

    2016-11-01

    Full Text Available Introduction: Xeroderma pigmentosum is a rare autosomal recessive genetic disease. This disease predisposes patients to early-onset skin cancers, particularly squamous cell carcinoma. Here, we report 3 pediatric cases, including 2 deaths. Observation: The subjects included 2 boys and 1 girl with skin type VI. All subjects were from consanguineous marriages, and the average age was 7.6 years. The patients all had ulcerative budding tumor lesions in the cephalic region, and the mean disease duration was 18 months. In all 3 cases, the diagnosis of xeroderma pigmentosum was made before the poikilodermal appearance of sun-exposed areas and photophobia. Neurological-type mental retardation was noted in 1 case. Histology confirmed squamous cell carcinoma in all 3 cases. The evolutions were marked by the death of 2 children (cases 1 and 3. In one case, the outcome was favorable following cancer excision and subsequent chemotherapy with adjuvant radiotherapy. Conclusion: Squamous cell carcinoma is a serious complication related to xeroderma pigmentosum in Sub-Saharan Africa. Prevention is based on the early diagnosis of xeroderma pigmentosum, black skin photoprotection, screening and early treatment of lesions, and genetic counseling.

  1. Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease.

    NARCIS (Netherlands)

    A.M. Sijbers (Anneke); W.L. de Laat (Wouter); R.A. Ariza (Rafael); M. Biggerstaff (Maureen); Y-F. Wei; J.G. Moggs (Jonathan); K.C. Carter (Kenneth); B.K. Shell (Brenda); E. Evans (Elizabeth); M.C. de Jong (Mariska); S. Rademakers (Suzanne); J.D. de Rooij (Johan); N.G.J. Jaspers (Nicolaas); J.H.J. Hoeijmakers (Jan); R.D. Wood (Richard)

    1996-01-01

    textabstractNucleotide excision repair, which is defective in xeroderma pigmentosum (XP), involves incision of a DNA strand on each side of a lesion. We isolated a human gene homologous to yeast Rad1 and found that it corrects the repair defects of XP group F as well as rodent groups 4 and 11. Causa

  2. Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2/TFIIH.

    NARCIS (Netherlands)

    A.J. van Vuuren (Hanneke); W. Vermeulen (Wim); L. Ma (Libin); G. Weeda (Geert); E. Appeldoorn (Esther); N.G.J. Jaspers (Nicolaas); A.J. van der Eb; J.H.J. Hoeijmakers (Jan); S. Humbert; L. Schaeffer; J-M. Egly (Jean-Marc)

    1994-01-01

    textabstractERCC3 was initially identified as a gene correcting the nucleotide excision repair (NER) defect of xeroderma pigmentosum complementation group B (XP-B). The recent finding that its gene product is identical to the p89 subunit of basal transcription factor BTF2(TFIIH), opened the possibil

  3. Xeroderma pigmentosum group A protein loads as a separate factor onto DNA lesions

    NARCIS (Netherlands)

    S. Rademakers (Suzanne); M. Volker (Marcel); D. Hoogstraten (Deborah); A.L. Nigg (Alex); M.J. Mone; A.A. van Zeeland (Albert); A.B. Houtsmuller (Adriaan); W. Vermeulen (Wim); J.H.J. Hoeijmakers (Jan)

    2003-01-01

    textabstractNucleotide excision repair (NER) is the main DNA repair pathway in mammals for removal of UV-induced lesions. NER involves the concerted action of more than 25 polypeptides in a coordinated fashion. The xeroderma pigmentosum group A protein (XPA) has been suggested to function as a centr

  4. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.

    NARCIS (Netherlands)

    Andressoo, Jaan-Olle; Mitchell, James R; Wit, Jan de; Hoogstraten, Deborah; Volker, Marcel; Toussaint, Wendy; Speksnijder, Ewoud; Beems, Rudolf B; Steeg, Harry van; Jans, Judith; Zeeuw, Chris I de; Jaspers, Nicolaas G J; Raams, Anja; Lehmann, Alan R; Vermeulen, Wim; Hoeijmakers, Jan H J; Horst, Gijsbertus T J van der

    2006-01-01

    Inborn defects in nucleotide excision DNA repair (NER) can paradoxically result in elevated cancer incidence (xeroderma pigmentosum [XP]) or segmental progeria without cancer predisposition (Cockayne syndrome [CS] and trichothiodystrophy [TTD]). We report generation of a knockin mouse model for the

  5. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.

    NARCIS (Netherlands)

    Andressoo, Jaan-Olle; Mitchell, James R; Wit, Jan de; Hoogstraten, Deborah; Volker, Marcel; Toussaint, Wendy; Speksnijder, Ewoud; Beems, Rudolf B; Steeg, Harry van; Jans, Judith; Zeeuw, Chris I de; Jaspers, Nicolaas G J; Raams, Anja; Lehmann, Alan R; Vermeulen, Wim; Hoeijmakers, Jan H J; Horst, Gijsbertus T J van der

    2006-01-01

    Inborn defects in nucleotide excision DNA repair (NER) can paradoxically result in elevated cancer incidence (xeroderma pigmentosum [XP]) or segmental progeria without cancer predisposition (Cockayne syndrome [CS] and trichothiodystrophy [TTD]). We report generation of a knockin mouse model for the

  6. Regulation of global genome nucleotide excision repair by SIRT1 through xeroderma pigmentosum C

    Science.gov (United States)

    Ming, Mei; Shea, Christopher R.; Guo, Xiumei; Li, Xiaoling; Soltani, Keyoumars; Han, Weinong; He, Yu-Ying

    2010-01-01

    Disruption of the nucleotide excision repair (NER) pathway by mutations can cause xeroderma pigmentosum, a syndrome predisposing affected individuals to development of skin cancer. The xeroderma pigmentosum C (XPC) protein is essential for initiating global genome NER by recognizing the DNA lesion and recruiting downstream factors. Here we show that inhibition of the deacetylase and longevity factor SIRT1 impairs global genome NER through suppressing the transcription of XPC in a SIRT1 deacetylase-dependent manner. SIRT1 enhances XPC expression by reducing AKT-dependent nuclear localization of the transcription repressor of XPC. Finally, we show that SIRT1 levels are significantly reduced in human skin tumors from Caucasian patients, a population at highest risk. These findings suggest that SIRT1 acts as a tumor suppressor through its role in DNA repair. PMID:21149730

  7. Circadian Rhythms of Oxidative Stress Markers and Melatonin Metabolite in Patients with Xeroderma Pigmentosum Group A

    Directory of Open Access Journals (Sweden)

    Rie Miyata

    2016-01-01

    Full Text Available Xeroderma pigmentosum group A (XPA is a genetic disorder in DNA nucleotide excision repair (NER with severe neurological disorders, in which oxidative stress and disturbed melatonin metabolism may be involved. Herein we confirmed the diurnal variation of melatonin metabolites, oxidative stress markers, and antioxidant power in urine of patients with XPA and age-matched controls, using enzyme-linked immunosorbent assay (ELISA. The peak of 6-sulfatoxymelatonin, a metabolite of melatonin, was seen at 6:00 in both the XPA patients and controls, though the peak value is lower, specifically in the younger age group of XPA patients. The older XPA patients demonstrated an increase in the urinary levels of 8-hydroxy-2′-deoxyguanosine and hexanoyl-lysine, a marker of oxidative DNA damage and lipid peroxidation, having a robust peak at 6:00 and 18:00, respectively. In addition, the urinary level of total antioxidant power was decreased in the older XPA patients. Recently, it is speculated that oxidative stress and antioxidant properties may have a diurnal variation, and the circadian rhythm is likely to influence the NER itself. We believe that the administration of melatonin has the possibility of ameliorating the augmented oxidative stress in neurodegeneration, especially in the older XPA patients, modulating the melatonin metabolism and the circadian rhythm.

  8. TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.

    Science.gov (United States)

    Singh, Amita; Compe, Emanuel; Le May, Nicolas; Egly, Jean-Marc

    2015-02-01

    Mutations in genes encoding the ERCC3 (XPB), ERCC2 (XPD), and GTF2H5 (p8 or TTD-A) subunits of the transcription and DNA-repair factor TFIIH lead to three autosomal-recessive disorders: xeroderma pigmentosum (XP), XP associated with Cockayne syndrome (XP/CS), and trichothiodystrophy (TTD). Although these diseases were originally associated with defects in DNA repair, transcription deficiencies might be also implicated. By using retinoic acid receptor beta isoform 2 (RARB2) as a model in several cells bearing mutations in genes encoding TFIIH subunits, we observed that (1) the recruitment of the TFIIH complex was altered at the activated RARB2 promoter, (2) TFIIH participated in the recruitment of nucleotide excision repair (NER) factors during transcription in a manner different from that observed during NER, and (3) the different TFIIH variants disturbed transcription by having distinct consequences on post-translational modifications of histones, DNA-break induction, DNA demethylation, and gene-loop formation. The transition from heterochromatin to euchromatin was disrupted depending on the variant, illustrating the fact that TFIIH, by contributing to NER factor recruitment, orchestrates chromatin remodeling. The subtle transcriptional differences found between various TFIIH variants thus participate in the phenotypic variability observed among XP, XP/CS, and TTD individuals.

  9. Radiation therapy for a rare association of maxillary neoplasm in xeroderma pigmentosum: Is it really contraindicated?

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    Saurabh Samdariya

    2016-01-01

    Full Text Available Dermatologic malignancies are common in xeroderma pigmentosum (XP patients; they can develop maxillary sinus cancers on rare occasions. Despite their extreme sensitivity to ultraviolet light, the patients of XP can be treated with standard doses of ionizing radiation for the treatment of cancers. The examples of use of radiotherapy as a treatment modality for maxillary neoplasms in patients of XP are rare. This report highlights a rare association of maxillary carcinoma in a patient of XP who received the tumoricidal doses of therapeutic X-rays with acceptable toxicities.

  10. A child with xeroderma pigmentosum for excision of basal cell carcinoma

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    Sridevi M Mulimani

    2013-01-01

    Full Text Available Xeroderma pigmentosum (XP is characterized by hypersensitivity to sunlight, ocular involvement, and progressive neurological complications. These manifestations are due to a cellular hypersensitivity to ultraviolet radiation leading to a defect in repair of DNA by the process of nucleotide excision repair. Basal cell carcinoma which is rare in children can occur with XP. Though the XP induced changes are predominately dermatologic, pose several challenges in anaesthetic management. Hence, we are reporting a 9-year-old child with XP scheduled for excision of basal cell carcinoma under general anaesthesia.

  11. Cockayne syndrome-xeroderma pigmentosum complex with demyelination: A rare association

    Directory of Open Access Journals (Sweden)

    Usha Rani Singh

    2012-01-01

    Full Text Available Xeroderma pigmentosum-Cockayne syndrome (XP-CS includes facial freckling and early skin cancers typical of XP and some features typical of CS, such as mental retardation, spasticity, short stature, and hypogonadism. XP-CS does not include skeletal involvement, the facial phenotype of CS, or CNS demyelination and calcifications. We present a rare patient whose genome probably harbored a specific combination of mutations producing a rare double syndrome of XP-CS, with facial phenotype of CS, and CNS demyelination.

  12. Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

    Science.gov (United States)

    Kralund, Henrik H.; Ousager, Lilian; Jaspers, Nicolaas G.; Raams, Anja; Pedersen, Erling B.; Gade, Else; Bygum, Anette

    2013-01-01

    Xeroderma Pigmentosum (XP), Trichothiodystrophy (TTD) and Cockayne Syndrome (CS) are rare, recessive disorders caused by mutational defects in the Nucleotide Excision Repair (NER) pathway and/or disruption of basic cellular DNA transcription. To date, a multitude of mutations in the XPD/ERCC2 gene have been described, many of which give rise to NER- and DNA transcription related diseases, which share certain diagnostic features and few overlap patients have been described. Despite increasing understanding of the roles of XPD/ERCC2 in mammalian cells, there is still weak predictability of somatic outcome from many of these mutations. We demonstrate a patient, believed to represent an overlap between XP and TTD/CS. In addition to other organ dysfunctions, the young man presented with Photosensitivity, Ichthyosis, Brittle hair, Impaired physical and mental development, Decreased fertility and Short stature (PIBIDS) suggestive of TTD, but lacking the almost patognomonic “tiger tail” banding of the hair under polarized light. Additionally, he developed basal cell carcinoma aged 28, as well as adult onset kidney failure, features normally not associated with TTD but rather XP/CS. His freckled appearance also suggested XP, but fibroblast cultures only demonstrated x2 UV-sensitivity with expected NER and TFIIH-activity decrease. Genetic sequencing of the XPD/ERCC2 gene established the patient as heterozygote compound with a novel, N-terminal Y18H mutation and a known C-terminal (TTD) mutation, A725P. The possible interplay between gene products and the patient phenotype is discussed. PMID:25002996

  13. Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

    Science.gov (United States)

    Fassihi, Hiva; Sethi, Mieran; Fawcett, Heather; Wing, Jonathan; Chandler, Natalie; Mohammed, Shehla; Craythorne, Emma; Morley, Ana M. S.; Lim, Rongxuan; Turner, Sally; Henshaw, Tanya; Garrood, Isabel; Giunti, Paola; Hedderly, Tammy; Abiona, Adesoji; Naik, Harsha; Harrop, Gemma; McGibbon, David; Jaspers, Nicolaas G. J.; Botta, Elena; Nardo, Tiziana; Stefanini, Miria; Young, Antony R.; Sarkany, Robert P. E.; Lehmann, Alan R.

    2016-01-01

    Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by increased susceptibility to UV radiation (UVR)-induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Genetically, it is assigned to eight complementation groups (XP-A to -G and variant). For the last 5 y, the UK national multidisciplinary XP service has provided follow-up for 89 XP patients, representing most of the XP patients in the United Kingdom. Causative mutations, DNA repair levels, and more than 60 clinical variables relating to dermatology, ophthalmology, and neurology have been measured, using scoring systems to categorize disease severity. This deep phenotyping has revealed unanticipated heterogeneity of clinical features, between and within complementation groups. Skin cancer is most common in XP-C, XP-E, and XP-V patients, previously considered to be the milder groups based on cellular analyses. These patients have normal sunburn reactions and are therefore diagnosed later and are less likely to adhere to UVR protection. XP-C patients are specifically hypersensitive to ocular damage, and XP-F and XP-G patients appear to be much less susceptible to skin cancer than other XP groups. Within XP groups, different mutations confer susceptibility or resistance to neurological damage. Our findings on this large cohort of XP patients under long-term follow-up reveal that XP is more heterogeneous than has previously been appreciated. Our data now enable provision of personalized prognostic information and management advice for each XP patient, as well as providing new insights into the functions of the XP proteins. PMID:26884178

  14. Characterization of the mouse homolog of the XPBC/ERCC-3 gene implicated in xeroderma pigmentosum and Cockayne's Syndrome.

    NARCIS (Netherlands)

    G. Weeda (Geert); L. Ma (Libin); R.C.A. van Ham; D. Bootsma (Dirk); A.J. van der Eb; J.H.J. Hoeijmakers (Jan)

    1991-01-01

    textabstractThe human XPBC/ERCC-3 DNA repair gene specifically corrects the repair defect of xeroderma pigmentosum (XP) complementation group B and rodent repair mutant cell lines of group 3. The gene encodes a presumed DNA- and chromatin-binding helicase involved in early steps of the excision

  15. Repairing DNA damage in xeroderma pigmentosum: T4N5 lotion and gene therapy.

    Science.gov (United States)

    Zahid, Sarwar; Brownell, Isaac

    2008-04-01

    Patients with xeroderma pigmentosum (XP) have defective DNA repair and are at a high risk for cutaneous malignancies. Standard treatments for XP are limited in scope and effectiveness. Understanding the molecular etiology of XP has led to the development of novel therapeutic approaches, including enzyme and gene therapies. One new topical treatment utilizing bacteriophage T4 endonuclease 5 (T4N5) in a liposomal lotion is currently in clinical trials and has received a Fast Track designation from the FDA. Gene therapy for XP, while making leaps in preclinical studies, has been slower to develop due to tactical hurdles, but seems to have much potential for future treatment. If these treatments prove effective in lowering the risk of cancer in patients with XP, they may also be found useful in reducing skin cancers in other at-risk patient populations.

  16. Anestesia em paciente com Xeroderma Pigmentoso: relato de caso Anestesia en paciente con Xeroderma Pigmentoso: relato de caso Anesthesia in patient with Xeroderma Pigmentosum: case report

    Directory of Open Access Journals (Sweden)

    Carlos Rogério Degrandi Oliveira

    2003-02-01

    ómica recesiva rara, caracterizada por el desenvolvimiento prematuro de neoplasias debido a la extrema sensibilidad a la radiación ultravioleta. Estas manifestaciones ocurren por falla en el mecanismo de excisión y reparo del DNA. Si comparados a individuos normales, estos pacientes presentan riesgo 1000 veces mayor de desenvolver neoplasias en áreas expuestas al sol. El objetivo de este relato es presentar la conducta anestésica en una paciente portadora de Xeroderma Pigmentoso sometida a cirugía oftalmológica. RELATO DEL CASO: Paciente del sexo femenino, 7 años, portadora de Xeroderma Pigmentoso con comprometimiento facial extenso, admitida para exéresis de lesión papilar en el ojo derecho. Fue prescrito midazolam (10 mg por vía oral, como medicación pré-anestésica. La monitorización inicial consistió de cardioscópio, oxímetro de pulso, estetoscopio precordial y presión arterial no invasiva. Fue realizada pré-oxigenación con oxígeno a 100% por 3 minutos e inducción inhalatoria bajo máscara con oxígeno a 100% y sevoflurano en concentraciones crecientes hasta 7%. Después de acceso venoso periférico con catéter 22G, fueron inyectados propofol (50 mg y succinilcolina (20 mg y realizada intubación traqueal con tubo 5,5 mm sin balonete. Un guía de metal fue utilizado para facilitar la introducción del tubo traqueal. La manutención de la anestesia fue hecha con sevoflurano a 3,5% y oxígeno a 100%, con sistema de Bain. La niña fue extubada en la sala cirúrgica y encaminada a la sala de recuperación pós-anestésica en buenas condiciones. CONCLUSIONES: Las alteraciones faciales y orofaríngeas decurrentes de esta enfermedad determinaron dificultades en la adaptación de la máscara facial e intubación traqueal. La educación constante del paciente y de sus familiares constituye el objetivo más importante en el manoseo de esta enfermedad.BACKGROUND AND OBJECTIVES: Xeroderma Pigmentosum is a rare, autosomal recessive disease characterized by the

  17. Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

    Directory of Open Access Journals (Sweden)

    Esteban Uribe-Bojanini

    2017-01-01

    Full Text Available Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP, De Sanctis–Cacchione syndrome (DSC, Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia, short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T. This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders.

  18. Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

    Science.gov (United States)

    Hernandez-Quiceno, Sara

    2017-01-01

    Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T). This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders. PMID:28255305

  19. Molecular and cellular analysis of the DNA repair defect in a patient in Xeroderma pigmentosum complementation group D who has the clinical features of Xeroderma pigmentosum and Cockayne syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Broughton, B.C.; Thompson, A.F.; Harcourt, S.A.; Cole, J.; Arlett, C.F.; Lehmann, A.R. [Univ. of Sussex, Brighton (United Kingdom); Vermeulen, W.; Hoeijmakers, J.H.J. [Erasmus Univ., Rotterdam (United Kingdom); Botta, E.; Stefanini, M. [Istituto di Genetica, Pavia (Italy)] [and others

    1995-01-01

    Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are quite distinct genetic disorders that are associated with defects in excision repair of UV-induced DNA damage. A few patients have been described previously with the clinical features of both disorders. In this paper we describe an individual in this category who has unusual cellular responses to UV light. We show that his cultured fibroblasts and lymphocytes are extremely sensitive to irradiation with UV-C, despite a level of nucleotide excision repair that is 30%-40% that of normal cells. The deficiency is assigned to the XP-D complementation group, and we have identified two causative mutations in the XPD gene: a gly{yields}arg change at amino acid 675 in the allele inherited from the patient`s mother and a -1 frameshift at amino acid 669 in the allele inherited from his father. These mutations are in the C-terminal 20% of the 760-amino-acid XPD protein, in a region where we have recently identified several mutations in patients with trichothiodystrophy. 44 refs., 5 figs., 2 tabs.

  20. El xeroderma pigmentoso en su fase de proliferación cutánea tumoral The xeroderma pigmentosum in its phase of tumoral cutaneous proliferation

    Directory of Open Access Journals (Sweden)

    Ernesto Melardo Taño Espinosa

    2012-03-01

    Full Text Available El xeroderma pigmentoso es una enfermedad dermatológica rara, autosómica recesiva, y su etiología está relacionada con el déficit congénito de una endonucleasa que impide la reparación de ADN de las células de la piel que mutan por la incidencia de los rayos ultravioletas. La enfermedad transcurre por 3 etapas clínicas evolutivas y morfológicas. Si no están totalmente protegidos de la luz solar, los enfermos sufren un envejecimiento acelerado de la piel, y desarrollan inevitablemente lesiones oculares y dérmicas que pueden conducir a múltiples lesiones cancerosas. No existe actualmente ningún tratamiento curativo. El diagnóstico precoz y la protección frente a la radiación ultravioleta son los factores imprescindibles en el tratamiento de los pacientes afectados. Se describe la evolución clínica de una niña de 10 años con xeroderma pigmentoso, la cual presenta una fase muy avanzada de la enfermedad, con importante crecimiento de carcinomas cutáneos. El objetivo de la presente publicación es presentar un caso clínico poco frecuente de xeroderma pigmentoso, y al mismo tiempo, realizar una revisión bibliográfica con el fin de orientar el diagnóstico precoz y el tratamiento oportuno en este tipo de casos.The xeroderma pigmentosum is a rare dermatologic disease, autosomal recessive and its etiology is related to the congenital deficit of an endonuclease inactivating the DNA of the cutaneous cells muting by the incidence of ultraviolet rays. The disease passes by three clinical, evolutionary and morphological stages. If the patients are not appropriately protected of the sunlight, they suffer an accelerated aging of the skin and inevitably develop ocular and dermal lesions that may to lead to multiple cancerous lesions. Nowadays, there is not a curative treatment. The early diagnosis and the protection the ultraviolet rays are the essential factors in the treatment of the involved patients. Authors describe the clinical

  1. Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

    Science.gov (United States)

    Kashiyama, Kazuya; Nakazawa, Yuka; Pilz, Daniela T; Guo, Chaowan; Shimada, Mayuko; Sasaki, Kensaku; Fawcett, Heather; Wing, Jonathan F; Lewin, Susan O; Carr, Lucinda; Li, Tao-Sheng; Yoshiura, Koh-ichiro; Utani, Atsushi; Hirano, Akiyoshi; Yamashita, Shunichi; Greenblatt, Danielle; Nardo, Tiziana; Stefanini, Miria; McGibbon, David; Sarkany, Robert; Fassihi, Hiva; Takahashi, Yoshito; Nagayama, Yuji; Mitsutake, Norisato; Lehmann, Alan R; Ogi, Tomoo

    2013-05-02

    Cockayne syndrome (CS) is a genetic disorder characterized by developmental abnormalities and photodermatosis resulting from the lack of transcription-coupled nucleotide excision repair, which is responsible for the removal of photodamage from actively transcribed genes. To date, all identified causative mutations for CS have been in the two known CS-associated genes, ERCC8 (CSA) and ERCC6 (CSB). For the rare combined xeroderma pigmentosum (XP) and CS phenotype, all identified mutations are in three of the XP-associated genes, ERCC3 (XPB), ERCC2 (XPD), and ERCC5 (XPG). In a previous report, we identified several CS cases who did not have mutations in any of these genes. In this paper, we describe three CS individuals deficient in ERCC1 or ERCC4 (XPF). Remarkably, one of these individuals with XP complementation group F (XP-F) had clinical features of three different DNA-repair disorders--CS, XP, and Fanconi anemia (FA). Our results, together with those from Bogliolo et al., who describe XPF alterations resulting in FA alone, indicate a multifunctional role for XPF. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  2. Chromosomal localization of three repair genes: The xeroderma pigmentosum group C gene and two human homologs of yeast RAD23

    Energy Technology Data Exchange (ETDEWEB)

    Spek, P.J. van der; Smit, E.M.E.; Beverloo, H.B. [Erasmus Univ., Rotterdam (Netherlands)] [and others

    1994-10-01

    The nucleotide excision repair (NER) disorder xeroderma pigmentosum (XP) is characterized by sun (UV) sensitivity, predisposition to skin cancer, and extensive genetic heterogeneity. Recently, we reported the cloning and analysis of three human NER genes, XPC, HHR23A, and HHR23B. The previously cloned XPC gene is involved in the common XP complementation group C, which is defective in excision repair of nontranscribed sequences in the genome. The XPC protein was found to be complexed with the product of HHR23B, one of the two human homologs of the Saccharomyes cerevisiae NER gene RAD23. Here we present the chromosomal localization by in situ hybridization using haptenized probes of all three genes. The HHR23A gene was assigned to chromosome 19p13.2. Interestingly, the HHR23B and XPC genes, the product of which forms a tight complex, were found to colocalize on band 3p25.1. Pulsed-field gel electrophoresis revealed that the HHR23B and XPC genes possibly share a MluI restriction fragment of about 625 kb. Potential involvement of the HHR23 genes in human genetic disorders is discussed. 53 refs., 4 figs., 2 tabs.

  3. Conservation of the nucleotide excision repair pathway: characterization of hydra Xeroderma Pigmentosum group F homolog.

    Directory of Open Access Journals (Sweden)

    Apurva Barve

    Full Text Available Hydra, one of the earliest metazoans with tissue grade organization and nervous system, is an animal with a remarkable regeneration capacity and shows no signs of organismal aging. We have for the first time identified genes of the nucleotide excision repair (NER pathway from hydra. Here we report cloning and characterization of hydra homolog of xeroderma pigmentosum group F (XPF gene that encodes a structure-specific 5' endonuclease which is a crucial component of NER. In silico analysis shows that hydra XPF amino acid sequence is very similar to its counterparts from other animals, especially vertebrates, and shows all features essential for its function. By in situ hybridization, we show that hydra XPF is expressed prominently in the multipotent stem cell niche in the central region of the body column. Ectoderm of the diploblastic hydra was shown to express higher levels of XPF as compared to the endoderm by semi-quantitative RT-PCR. Semi-quantitative RT-PCR analysis also demonstrated that interstitial cells, a multipotent and rapidly cycling stem cell lineage of hydra, express higher levels of XPF mRNA than other cell types. Our data show that XPF and by extension, the NER pathway is highly conserved during evolution. The prominent expression of an NER gene in interstitial cells may have implications for the lack of senescence in hydra.

  4. Dynamic two-stage mechanism of versatile DNA damage recognition by xeroderma pigmentosum group C protein

    Energy Technology Data Exchange (ETDEWEB)

    Clement, Flurina C.; Camenisch, Ulrike; Fei, Jia; Kaczmarek, Nina; Mathieu, Nadine [Institute of Pharmacology and Toxicology, University of Zuerich-Vetsuisse, Winterthurerstrasse 260, CH-8057 Zuerich (Switzerland); Naegeli, Hanspeter, E-mail: naegelih@vetpharm.uzh.ch [Institute of Pharmacology and Toxicology, University of Zuerich-Vetsuisse, Winterthurerstrasse 260, CH-8057 Zuerich (Switzerland)

    2010-03-01

    The recognition and subsequent repair of DNA damage are essential reactions for the maintenance of genome stability. A key general sensor of DNA lesions is xeroderma pigmentosum group C (XPC) protein, which recognizes a wide variety of helix-distorting DNA adducts arising from ultraviolet (UV) radiation, genotoxic chemicals and reactive metabolic byproducts. By detecting damaged DNA sites, this unique molecular sensor initiates the global genome repair (GGR) pathway, which allows for the removal of all the aforementioned lesions by a limited repertoire of excision factors. A faulty GGR activity causes the accumulation of DNA adducts leading to mutagenesis, carcinogenesis, neurological degeneration and other traits of premature aging. Recent findings indicate that XPC protein achieves its extraordinary substrate versatility by an entirely indirect readout strategy implemented in two clearly discernible stages. First, the XPC subunit uses a dynamic sensor interface to monitor the double helix for the presence of non-hydrogen-bonded bases. This initial screening generates a transient nucleoprotein intermediate that subsequently matures into the ultimate recognition complex by trapping undamaged nucleotides in the abnormally oscillating native strand, in a way that no direct contacts are made between XPC protein and the offending lesion itself. It remains to be elucidated how accessory factors like Rad23B, centrin-2 or the UV-damaged DNA-binding complex contribute to this dynamic two-stage quality control process.

  5. Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.

    Science.gov (United States)

    Hijazi, H; Salih, M A; Hamad, M H A; Hassan, H H; Salih, S B M; Mohamed, K A; Mukhtar, M M; Karrar, Z A; Ansari, S; Ibrahim, N; Alkuraya, F S

    2015-01-01

    An extremely rare pellagra-like condition has been described, which was partially responsive to niacin and associated with a multisystem involvement. The condition was proposed to represent a novel autosomal recessive entity but the underlying mutation remained unknown for almost three decades. The objective of this study was to identify the causal mutation in the pellagra-like condition and investigate the mechanism by which niacin confers clinical benefit. Autozygosity mapping and exome sequencing were used to identify the causal mutation, and comet assay on patient fibroblasts before and after niacin treatment to assess its effect on DNA damage. We identified a single disease locus that harbors a novel mutation in ERCC5, thus confirming that the condition is in fact xeroderma pigmentosum/Cockayne syndrome (XP/CS) complex. Importantly, we also show that the previously described dermatological response to niacin is consistent with a dramatic protective effect against ultraviolet-induced DNA damage in patient fibroblasts conferred by niacin treatment. Our findings show the power of exome sequencing in reassigning previously described novel clinical entities, and suggest a mechanism for the dermatological response to niacin in patients with XP/CS complex. This raises interesting possibilities about the potential therapeutic use of niacin in XP.

  6. Genetic Correction of Stem Cells in the Treatment of Inherited Diseases and Focus on Xeroderma Pigmentosum

    Directory of Open Access Journals (Sweden)

    Françoise Bernerd

    2013-10-01

    Full Text Available Somatic stem cells ensure tissue renewal along life and healing of injuries. Their safe isolation, genetic manipulation ex vivo and reinfusion in patients suffering from life threatening immune deficiencies (for example, severe combined immunodeficiency (SCID have demonstrated the efficacy of ex vivo gene therapy. Similarly, adult epidermal stem cells have the capacity to renew epidermis, the fully differentiated, protective envelope of our body. Stable skin replacement of severely burned patients have proven life saving. Xeroderma pigmentosum (XP is a devastating disease due to severe defects in the repair of mutagenic DNA lesions introduced upon exposure to solar radiations. Most patients die from the consequences of budding hundreds of skin cancers in the absence of photoprotection. We have developed a safe procedure of genetic correction of epidermal stem cells isolated from XP patients. Preclinical and safety assessments indicate successful correction of XP epidermal stem cells in the long term and their capacity to regenerate a normal skin with full capacities of DNA repair.

  7. Development of effective skin cancer treatment and prevention in xeroderma pigmentosum.

    Science.gov (United States)

    Lambert, W Clark; Lambert, Muriel W

    2015-01-01

    Xeroderma pigmentosum (XP) is a rare, recessively transmitted genetic disease characterized by increasingly marked dyspigmentation and xerosis (dryness) of sun-exposed tissues, especially skin. Skin cancers characteristically develop in sun-exposed sites at very much earlier ages than in the general population; these are often multiple and hundreds or even thousands may develop. Eight complementation groups have been identified. Seven groups, XP-A…G, are associated with defective genes encoding proteins involved in the nucleotide excision DNA repair (NER) pathway that recognizes and excises mutagenic changes induced in DNA by sunlight; the eighth group, XP-V, is associated with defective translesion synthesis (TLS) bypassing such alterations. The dyspigmentation, xerosis and eventually carcinogenesis in XP patients appear to be due to their cells' failure to respond properly to these mutagenic DNA alterations, leading to mutations in skin cells. A subset of cases, especially those in some complementation groups, may develop neurological degeneration, which may be severe. However, in most XP patients, in the past the multiple skin cancers have led to death at an early age due to either metastases or sepsis. Using either topical 5-fluorouracil or imiquimod, we have developed a protocol that effectively prevents most skin cancer development in XP patients. © 2014 The American Society of Photobiology.

  8. Basaloid squamous carcinoma of skin associated with xeroderma pigmentosum in an 8-year-old child: A rare entity

    Directory of Open Access Journals (Sweden)

    Tashnin Rahman

    2014-01-01

    Full Text Available Xeroderma pigmentosum (XP is a rare autosomal recessive genodermatosis associated with hypersensitivity to ultraviolet (UV light, due to defects in deoxyribonucleic acid (DNA repair. Basaloid squamous cell carcinoma is a rare aggressive variant of squamous cell carcinoma. Patients with XP are at increased risk of developing cutaneous malignancy and are commonly associated with squamous carcinoma. We report an extremely rare case of 8-year-old child with XP along with basaloidsquamous carcinoma of skin; and review of literature related to it.

  9. DNA damage and gene therapy of xeroderma pigmentosum, a human DNA repair-deficient disease

    Energy Technology Data Exchange (ETDEWEB)

    Dupuy, Aurélie [Laboratory of Genetic Instability and Oncogenesis UMR8200CNRS, Institut Gustave Roussy and University Paris-Sud, Villejuif (France); Sarasin, Alain, E-mail: alain.sarasin@gustaveroussy.fr [Laboratory of Genetic Instability and Oncogenesis UMR8200CNRS, Institut Gustave Roussy and University Paris-Sud, Villejuif (France); Service de Génétique, Institut Gustave Roussy (France)

    2015-06-15

    Graphical abstract: - Highlights: • Full correction of mutation in the XPC gene by engineered nucleases. • Meganucleases and TALENs are inhibited by 5-MeC for inducing double strand breaks. • Gene therapy of XP cells is possible using homologous recombination for DSB repair. - Abstract: Xeroderma pigmentosum (XP) is a genetic disease characterized by hypersensitivity to ultra-violet and a very high risk of skin cancer induction on exposed body sites. This syndrome is caused by germinal mutations on nucleotide excision repair genes. No cure is available for these patients except a complete protection from all types of UV radiations. We reviewed the various techniques to complement or to correct the genetic defect in XP cells. We, particularly, developed the correction of XP-C skin cells using the fidelity of the homologous recombination pathway during repair of double-strand break (DSB) in the presence of XPC wild type sequences. We used engineered nucleases (meganuclease or TALE nuclease) to induce a DSB located at 90 bp of the mutation to be corrected. Expression of specific TALE nuclease in the presence of a repair matrix containing a long stretch of homologous wild type XPC sequences allowed us a successful gene correction of the original TG deletion found in numerous North African XP patients. Some engineered nucleases are sensitive to epigenetic modifications, such as cytosine methylation. In case of methylated sequences to be corrected, modified nucleases or demethylation of the whole genome should be envisaged. Overall, we showed that specifically-designed TALE-nuclease allowed us to correct a 2 bp deletion in the XPC gene leading to patient's cells proficient for DNA repair and showing normal UV-sensitivity. The corrected gene is still in the same position in the human genome and under the regulation of its physiological promoter. This result is a first step toward gene therapy in XP patients.

  10. DNA damage and gene therapy of xeroderma pigmentosum, a human DNA repair-deficient disease.

    Science.gov (United States)

    Dupuy, Aurélie; Sarasin, Alain

    2015-06-01

    Xeroderma pigmentosum (XP) is a genetic disease characterized by hypersensitivity to ultra-violet and a very high risk of skin cancer induction on exposed body sites. This syndrome is caused by germinal mutations on nucleotide excision repair genes. No cure is available for these patients except a complete protection from all types of UV radiations. We reviewed the various techniques to complement or to correct the genetic defect in XP cells. We, particularly, developed the correction of XP-C skin cells using the fidelity of the homologous recombination pathway during repair of double-strand break (DSB) in the presence of XPC wild type sequences. We used engineered nucleases (meganuclease or TALE nuclease) to induce a DSB located at 90 bp of the mutation to be corrected. Expression of specific TALE nuclease in the presence of a repair matrix containing a long stretch of homologous wild type XPC sequences allowed us a successful gene correction of the original TG deletion found in numerous North African XP patients. Some engineered nucleases are sensitive to epigenetic modifications, such as cytosine methylation. In case of methylated sequences to be corrected, modified nucleases or demethylation of the whole genome should be envisaged. Overall, we showed that specifically-designed TALE-nuclease allowed us to correct a 2 bp deletion in the XPC gene leading to patient's cells proficient for DNA repair and showing normal UV-sensitivity. The corrected gene is still in the same position in the human genome and under the regulation of its physiological promoter. This result is a first step toward gene therapy in XP patients.

  11. Targeted gene therapy of xeroderma pigmentosum cells using meganuclease and TALEN™.

    Directory of Open Access Journals (Sweden)

    Aurélie Dupuy

    Full Text Available Xeroderma pigmentosum group C (XP-C is a rare human syndrome characterized by hypersensitivity to UV light and a dramatic predisposition to skin neoplasms. XP-C cells are deficient in the nucleotide excision repair (NER pathway, a complex process involved in the recognition and removal of DNA lesions. Several XPC mutations have been described, including a founder mutation in North African patients involving the deletion of a TG dinucleotide (ΔTG located in the middle of exon 9. This deletion leads to the expression of an inactive truncated XPC protein, normally involved in the first step of NER. New approaches used for gene correction are based on the ability of engineered nucleases such as Meganucleases, Zinc-Finger nucleases or TALE nucleases to accurately generate a double strand break at a specific locus and promote correction by homologous recombination through the insertion of an exogenous DNA repair matrix. Here, we describe the targeted correction of the ΔTG mutation in XP-C cells using engineered meganuclease and TALEN™. The methylated status of the XPC locus, known to inhibit both of these nuclease activities, led us to adapt our experimental design to optimize their in vivo efficacies. We show that demethylating treatment as well as the use of TALEN™ insensitive to CpG methylation enable successful correction of the ΔTG mutation. Such genetic correction leads to re-expression of the full-length XPC protein and to the recovery of NER capacity, attested by UV-C resistance of the corrected cells. Overall, we demonstrate that nuclease-based targeted approaches offer reliable and efficient strategies for gene correction.

  12. Targeted gene therapy of xeroderma pigmentosum cells using meganuclease and TALEN™.

    Science.gov (United States)

    Dupuy, Aurélie; Valton, Julien; Leduc, Sophie; Armier, Jacques; Galetto, Roman; Gouble, Agnès; Lebuhotel, Céline; Stary, Anne; Pâques, Frédéric; Duchateau, Philippe; Sarasin, Alain; Daboussi, Fayza

    2013-01-01

    Xeroderma pigmentosum group C (XP-C) is a rare human syndrome characterized by hypersensitivity to UV light and a dramatic predisposition to skin neoplasms. XP-C cells are deficient in the nucleotide excision repair (NER) pathway, a complex process involved in the recognition and removal of DNA lesions. Several XPC mutations have been described, including a founder mutation in North African patients involving the deletion of a TG dinucleotide (ΔTG) located in the middle of exon 9. This deletion leads to the expression of an inactive truncated XPC protein, normally involved in the first step of NER. New approaches used for gene correction are based on the ability of engineered nucleases such as Meganucleases, Zinc-Finger nucleases or TALE nucleases to accurately generate a double strand break at a specific locus and promote correction by homologous recombination through the insertion of an exogenous DNA repair matrix. Here, we describe the targeted correction of the ΔTG mutation in XP-C cells using engineered meganuclease and TALEN™. The methylated status of the XPC locus, known to inhibit both of these nuclease activities, led us to adapt our experimental design to optimize their in vivo efficacies. We show that demethylating treatment as well as the use of TALEN™ insensitive to CpG methylation enable successful correction of the ΔTG mutation. Such genetic correction leads to re-expression of the full-length XPC protein and to the recovery of NER capacity, attested by UV-C resistance of the corrected cells. Overall, we demonstrate that nuclease-based targeted approaches offer reliable and efficient strategies for gene correction.

  13. Homozygous R788W point mutation in the XPF gene of a patient with Xeroderma pigmentosum and late-onset neurologic disease

    NARCIS (Netherlands)

    Sijbers, AM; Vader, PCV; Snoek, JW; Raams, A; Jaspers, NGJ; Kleijer, WJ

    1998-01-01

    The second Caucasian xeroderma pigmentosum patient (XP42RO) belonging to complementation group F (XP-F) is described, Mild ocular photophobia was present from childhood, and acute skin reactions occurred upon exposure to sunlight. Basal and squamous cell carcinomas developed after his twenty-seventh

  14. RAD25(SSL2), a yeast homolog of the human xeroderma pigmentosum group B DNA repair gene, is essential for viability.

    NARCIS (Netherlands)

    E. Park (Robert); S.N. Guzder; M.H.M. Koken (Marcel); I. Jaspers-Dekker (Iris); G. Weeda (Geert); J.H.J. Hoeijmakers (Jan); S. Prakash; L. Prakash

    1992-01-01

    textabstractXeroderma pigmentosum (XP) patients are extremely sensitive to ultraviolet (UV) light and suffer from a high incidence of skin cancers, due to a defect in nucleotide excision repair. The disease is genetically heterogeneous, and seven complementation groups, A-G, have been identified. Ho

  15. Microinjection of Micrococcus luteus UV-endonuclease restores UV-induced unscheduled DNA synthesis in cells of 9 xeroderma pigmentosum complementation groups.

    NARCIS (Netherlands)

    A.J.R. de Jonge; W. Vermeulen (Wim); W. Keijzer; J.H.J. Hoeijmakers (Jan); D. Bootsma (Dirk)

    1985-01-01

    textabstractThe UV-induced unscheduled DNA synthesis (UDS) in cultured cells of excision-deficient xeroderma pigmentosum (XP) complementation groups A through I was assayed after injection of Micrococcus luteus UV-endonuclease using glass microneedles. In all complementation groups a restoration of

  16. Transient correction of excision repair defects in fibroblasts of 9 xeroderma pigmentosum complementation groups by microinjection of crude human cell extract.

    NARCIS (Netherlands)

    W. Vermeulen (Wim); P. Osseweijer; A.J.R. de Jonge; J.H.J. Hoeijmakers (Jan)

    1986-01-01

    textabstractCrude extracts from human cells were microinjected into the cytoplasm of cultured fibroblasts from 9 excision-deficient xeroderma pigmentosum (XP) complementation groups. The level of UV-induced unscheduled DNA synthesis (UDS) was measured to determine the effect of the extract on the re

  17. Ophthalmic Manifestations of Xeroderma Pigmentosum: A Perspective from the United Kingdom.

    Science.gov (United States)

    Lim, Rongxuan; Sethi, Mieran; Morley, Ana M S

    2017-05-26

    To document the ocular manifestations of xeroderma pigmentosum (XP), presenting via the United Kingdom (UK) XP service, and to analyze the correlations between XP genotype and ophthalmic phenotype. Prospective observational case series. Eighty-nine patients seen by the UK Nationally Commissioned XP Service, from April 2010 to December 2014, with a genetically confirmed diagnosis of XP. Patients underwent a full ophthalmic examination at each visit. Clinical features from both eyes were recorded on a standard proforma. The most recent assessments were analyzed. A 2-tailed Fisher exact test was used to assess for differences in ocular features between patients in XP subgroups with impaired transcription coupled nucleotide excision repair (TC-NER) (category 1: XP-A, B, D, F, and G) and preserved TC-NER (category 2: XP-C, E, and V). Lid and periocular abnormalities, ocular surface pathologies, neuro-ophthalmologic abnormalities, lens and retinal abnormalities, and visual acuity (VA). Ninety-three percent of XP patients in our cohort had ocular involvement, with 65% describing photophobia. The most common abnormalities were in the periocular skin and ocular surface, including interpalpebral conjunctival melanosis (44%) and conjunctival injection (43%). Eleven percent of patients had required treatment for periocular cancers and 2% for ocular surface cancers. The most common neuro-ophthalmologic finding was minimal pupillary reaction to light (25%). Patients in category 2 had significantly more ocular surface abnormalities than patients in category 1, including a greater proportion of conjunctival injection (P = 0.003), conjunctival corkscrew vessels (P surface signs related to XP, before any formal diagnosis of XP was made. A large proportion of XP patients have ocular involvement. Regular examination by an ophthalmologist is essential, especially in screening for eyelid and ocular surface tumors. The ocular phenotype-genotype segregation within XP patients suggests

  18. Contribution of DNA Repair Xeroderma Pigmentosum Group D Genotypes to Colorectal Cancer Risk in Taiwan.

    Science.gov (United States)

    Chang, Wen-Shin; Yueh, Te-Cheng; Tsai, Chia-Wen; Ji, Hong-Xue; Wu, Cheng-Nan; Wang, Shou-Cheng; Lai, Yi-Liang; Hsu, Shih-Wei; Hsieh, Ming-Hao; Hsiao, Chieh-Lun; Hung, Yi-Wen; Shih, Tzu-Ching; Bau, Da-Tian

    2016-04-01

    It has been previously proposed that genetic variations on DNA repair genes confer susceptibility to cancer and the DNA repair gene Xeroderma Pigmentosum Group D (XPD) is thought to play the role of a helicase during excision repair and transcription. We investigated three genotypes of XPD, at promoter -114 (rs3810366), Asp312Asn (rs1799793) and Lys751Gln (rs13181), regarding their association with colorectal cancer susceptibility in a Taiwanese population. In total, 362 patients with colorectal cancer and 362 gender- and age-matched healthy controls were genotyped by polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP), and their XPD genotypes' association with colorectal cancer risk was investigated. The genotypes of XPD Asp312Asn (p=0.2493), Lys751Gln (p=0.7547) and promoter -114 (p=0.8702), were not associated with susceptibility for colorectal cancer. The Chi-square test revealed that the variant alleles of XPD Asp312Asn, Lys751Gln and promoter -114 was not associated with susceptibility for colorectal cancer either [p=0.1330, 0.3888 and 0.8740; odds ratio (OR)=1.20, 0.83 and 0.98; 95% confidence interval (95%CI)=0.95-1.52, 0.54-1.27 and 0.80-1.21, respectively]. The risk of A/G and A/A genotypes have no association with cancer risk among non-alcohol drinkers (OR=1.24, 95%, CI=0.90-1.72, p=0.2103) or alcohol drinkers (OR=1.51, 95% CI=0.64-3.55, p=0.4648). There exists no obvious contribution of XPD genotypes to tumor size (p=0.3531), location (p=0.3006) and lymph node metastasis (p=0.1061). Asp312Asn, Lys751Gln and promoter -114 of the XPD gene were not found to be adequate predictive markers for colorectal cancer risk in Taiwan. Copyright© 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

  19. Recovery from ultraviolet light-induced depression of ribosomal RNA synthesis in normal human, xeroderma pigmentosum and cockayne syndrome cells

    Energy Technology Data Exchange (ETDEWEB)

    Ayaki, Hitoshi; Hara, Ryujiro; Ikenaga, Mituo [Kyoto Univ. (Japan). Radiation Biology Center

    1996-06-01

    The rate of ribosomal RNA (rRNA) synthesis was analyzed at different times after ultraviolet light (UV) irradiation in normal human, xeroderma pigmentosum (XP) and Cockayne syndrome (CS) cells. In normal cells, the rate of rRNA synthesis, as measured by the incorporation of {sup 3}H-uridine into 18S and 28S rRNAs, decreased immediately after UV irradiation to about half of that of unirradiated cells, and then recovered significantly at 24h after UV. However, the rate of synthesis continued to decrease during post-UV incubation in XP cells belonging to groups A, D, E, F and G, as well as in CS cells of groups A and B. In contrast, group C XP cells showed a slight recovery at 24h after UV, suggesting that they have the capacity to repair UV lesions in rRNA genes. (author)

  20. Vismodegib Therapy for Basal Cell Carcinoma in an 8-Year-Old Chinese Boy with Xeroderma Pigmentosum.

    Science.gov (United States)

    Fife, Douglas; Laitinen, Marko A; Myers, David J; Landsteiner, Pamela B

    2017-03-01

    Vismodegib is an oral inhibitor of the Hedgehog signaling pathway and has been used to treat basal cell carcinoma (BCC) in adults. This article reports clearance of a nodular BCC of the nasal tip in an 8-year-old boy with xeroderma pigmentosum (XP). BCC can pose therapeutic challenges when located in areas that are not amenable to traditional therapies such as Mohs micrographic surgery or topical agents. Vismodegib was used at a dose of 150 mg/day to treat the boy's BCC. After 4 months of therapy, we achieved complete clinical clearance. During 21 months of follow-up, the patient's nose remained clinically clear of tumor. Vismodegib was successfully used to treat a child with XP and nodular BCC. Our goal in using vismodegib was tumor regression while avoiding cosmetic and functional disfigurement. Vismodegib was effective in clinically clearing the tumor, and the patient has shown no signs of recurrence. Further studies are warranted.

  1. Anestesia em paciente com Xeroderma Pigmentoso: relato de caso Anestesia en paciente con Xeroderma Pigmentoso: relato de caso Anesthesia in patient with Xeroderma Pigmentosum: case report

    OpenAIRE

    Carlos Rogério Degrandi Oliveira; Luciana Elias; Ana Cláudia de Melo Barros; Diogo Brüggemann da Conceição

    2003-01-01

    JUSTIFICATIVA E OBJETIVOS: O Xeroderma Pigmentoso é uma doença autossômica recessiva rara, caracterizada pelo desenvolvimento prematuro de neoplasias devido à extrema sensibilidade à radiação ultravioleta. Estas manifestações ocorrem por falha no mecanismo de excisão e reparo do DNA. Se comparados a indivíduos normais, estes pacientes apresentam risco 1000 vezes maior de desenvolver neoplasias em áreas expostas ao sol. O objetivo deste relato é apresentar a conduta anestésica em uma paciente ...

  2. Characterization of DNA repair phenotypes of Xeroderma pigmentosum cell lines by a paralleled in vitro test; Phenotypage de la reparation de l'ADN de lignees Xeroderma pigmentosum, par un test in vitro multiparametrique

    Energy Technology Data Exchange (ETDEWEB)

    Raffin, A.L.

    2009-06-15

    DNA is constantly damaged modifying the genetic information for which it encodes. Several cellular mechanisms as the Base Excision Repair (BER) and the Nucleotide Excision Repair (NER) allow recovering the right DNA sequence. The Xeroderma pigmentosum is a disease characterised by a deficiency in the NER pathway. The aim of this study was to propose an efficient and fast test for the diagnosis of this disease as an alternative to the currently available UDS test. DNA repair activities of XP cell lines were quantified using in vitro miniaturized and paralleled tests in order to establish DNA repair phenotypes of XPA and XPC deficient cells. The main advantage of the tests used in this study is the simultaneous measurement of excision or excision synthesis (ES) of several lesions by only one cellular extract. We showed on one hand that the relative ES of the different lesions depend strongly on the protein concentration of the nuclear extract tested. Working at high protein concentration allowed discriminating the XP phenotype versus the control one, whereas it was impossible under a certain concentration's threshold. On the other hand, while the UVB irradiation of control cells stimulated their repair activities, this effect was not observed in XP cells. This study brings new information on the XPA and XPC protein roles during BER and NER and underlines the complexity of the regulations of DNA repair processes. (author)

  3. Conformational effects of a common codon 751 polymorphism on the C-terminal domain of the xeroderma pigmentosum D protein

    Directory of Open Access Journals (Sweden)

    Monaco Regina

    2009-01-01

    Full Text Available Aim: The xeroderma pigmentosum D (XPD protein is a DNA helicase involved in the repair of DNA damage, including nucleotide excision repair (NER and transcription-coupled repair (TCR. The C-terminal domain of XPD has been implicated in interactions with other components of the TFIIH complex, and it is also the site of a common genetic polymorphism in XPD at amino acid residue 751 (Lys->Gln. Some evidence suggests that this polymorphism may alter DNA repair capacity and increase cancer risk. The aim of this study was to investigate whether these effects could be attributable to conformational changes in XPD induced by the polymorphism. Materials and Methods: Molecular dynamics techniques were used to predict the structure of the wild-type and polymorphic forms of the C-terminal domain of XPD and differences in structure produced by the polymorphic substitution were determined. Results: The results indicate that, although the general configuration of both proteins is similar, the substitution produces a significant conformational change immediately N-terminal to the site of the polymorphism. Conclusion: These results provide support for the hypothesis that this polymorphism in XPD could affect DNA repair capability, and hence cancer risk, by altering the structure of the C-terminal domain.

  4. The Cerebro-Morphological Fingerprint of a Progeroid Syndrome: White Matter Changes Correlate with Neurological Symptoms in Xeroderma Pigmentosum

    Science.gov (United States)

    Kassubek, Jan; Sperfeld, Anne-Dorte; Pinkhardt, Elmar H.; Unrath, Alexander; Müller, Hans-Peter; Scharffetter-Kochanek, Karin; Ludolph, Albert C.; Berneburg, Mark

    2012-01-01

    Background Xeroderma pigmentosum (XP) is a rare autosomal recessive progeroid syndrome. It has recently been shown that the underlying DNA repair defect plays a central role in the aging process. In addition to skin symptoms, various premature neurological abnormalities have been reported. Methodology/Principal Findings We present the clinical neurological phenotype in 14 XP patients (seven subtypes), in seven of these patients together with conventional and multiparametric advanced MRI data to assess the macrostructural and microstructural cerebral morphology in comparison to controls, including volumetric measurements, MR spectroscopy (1H MRS), and diffusion tensor imaging (DTI). Clinical hallmarks were spinocerebellar ataxia, pyramidal tract signs, and mild cognitive deficits. DTI demonstrated significantly reduced WM directionality in all regions investigated, i.e. the thalamus, the corticospinal tracts and the dorsal corpus callosum. Single patients showed a marked relative hippocampal volume reduction, but the patients were not different from controls in the volumetric measurements of hippocampal and whole brain volumes at group level. However, 1H MRS demonstrated that the hippocampal formation was metabolically altered. Conclusions The most prominent feature was the white matter affectation, as assessed by DTI, with volume and directionality reductions of the fiber projections involving both the craniocaudal fibers and the interhemispheric connections. These findings, although heterogeneous among the study sample, could be correlated with the clinico-neurological symptoms. The imaging findings support the position that myelin structures degrade prematurely in the brain of XP patients. PMID:22363517

  5. The cerebro-morphological fingerprint of a progeroid syndrome: white matter changes correlate with neurological symptoms in xeroderma pigmentosum.

    Directory of Open Access Journals (Sweden)

    Jan Kassubek

    Full Text Available BACKGROUND: Xeroderma pigmentosum (XP is a rare autosomal recessive progeroid syndrome. It has recently been shown that the underlying DNA repair defect plays a central role in the aging process. In addition to skin symptoms, various premature neurological abnormalities have been reported. METHODOLOGY/PRINCIPAL FINDINGS: We present the clinical neurological phenotype in 14 XP patients (seven subtypes, in seven of these patients together with conventional and multiparametric advanced MRI data to assess the macrostructural and microstructural cerebral morphology in comparison to controls, including volumetric measurements, MR spectroscopy ((1H MRS, and diffusion tensor imaging (DTI. Clinical hallmarks were spinocerebellar ataxia, pyramidal tract signs, and mild cognitive deficits. DTI demonstrated significantly reduced WM directionality in all regions investigated, i.e. the thalamus, the corticospinal tracts and the dorsal corpus callosum. Single patients showed a marked relative hippocampal volume reduction, but the patients were not different from controls in the volumetric measurements of hippocampal and whole brain volumes at group level. However, (1H MRS demonstrated that the hippocampal formation was metabolically altered. CONCLUSIONS: The most prominent feature was the white matter affectation, as assessed by DTI, with volume and directionality reductions of the fiber projections involving both the craniocaudal fibers and the interhemispheric connections. These findings, although heterogeneous among the study sample, could be correlated with the clinico-neurological symptoms. The imaging findings support the position that myelin structures degrade prematurely in the brain of XP patients.

  6. A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy

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    Mariem Ben Rekaya

    2014-01-01

    Full Text Available Xeroderma pigmentosum Variant (XP-V form is characterized by a late onset of skin symptoms. Our aim is the clinical and genetic investigations of XP-V Tunisian patients in order to develop a simple tool for early diagnosis. We investigated 16 suspected XP patients belonging to ten consanguineous families. Analysis of the POLH gene was performed by linkage analysis, long range PCR, and sequencing. Genetic analysis showed linkage to the POLH gene with a founder haplotype in all affected patients. Long range PCR of exon 9 to exon 11 showed a 3926 bp deletion compared to control individuals. Sequence analysis demonstrates that this deletion has occurred between two Alu-Sq2 repetitive sequences in the same orientation, respectively, in introns 9 and 10. We suggest that this mutation POLH NG_009252.1: g.36847_40771del3925 is caused by an equal crossover event that occurred between two homologous chromosomes at meiosis. These results allowed us to develop a simple test based on a simple PCR in order to screen suspected XP-V patients. In Tunisia, the prevalence of XP-V group seems to be underestimated and clinical diagnosis is usually later. Cascade screening of this founder mutation by PCR in regions with high frequency of XP provides a rapid and cost-effective tool for early diagnosis of XP-V in Tunisia and North Africa.

  7. Xeroderma pigmentosum group D 751 polymorphism as a predictive factor in resected gastric cancer treated with chemo-radiotherapy

    Institute of Scientific and Technical Information of China (English)

    RN Zárate R; F Arias; E Bandres; E Cubedo; R Malumbres; J García-Foncillas

    2006-01-01

    AIM: To evaluate the potential association of xeroderma pigmentosum group D (XPD) codon 751 variant with outcome after chemo-radiotherapy in patients with resected gastric cancer.METHODS: We used PCR-RFLP to evaluate the genetic XPD Lys751Gln polymorphisms in 44 patients with stage Ⅲ (48%) and Ⅳ (20%) gastric cancer treated with surgery following radiation therapy plus 5-fluorouracil/leucovorin based chemotherapy.RESULTS: Statistical analysis showed that 75% (12 of 16) of relapse patients showed Lys/Lys genotype more frequently (P = 0.042). The Lys polymorphism was an independent predictor of high-risk relapse-free survival from Cox analysis (HR: 3.07, 95% CI: 1.07-8.78, P =0.036) and Kaplan-Meir test (P = 0.027, log-rank test).CONCLUSION: XPD Lys751Gln polymorphism may be an important marker in the prediction of clinical outcome to chemo-radiotherapy in resected gastric cancer patients.

  8. Structural and Sequence Similarities of Hydra Xeroderma Pigmentosum A Protein to Human Homolog Suggest Early Evolution and Conservation

    Directory of Open Access Journals (Sweden)

    Apurva Barve

    2013-01-01

    Full Text Available Xeroderma pigmentosum group A (XPA is a protein that binds to damaged DNA, verifies presence of a lesion, and recruits other proteins of the nucleotide excision repair (NER pathway to the site. Though its homologs from yeast, Drosophila, humans, and so forth are well studied, XPA has not so far been reported from protozoa and lower animal phyla. Hydra is a fresh-water cnidarian with a remarkable capacity for regeneration and apparent lack of organismal ageing. Cnidarians are among the first metazoa with a defined body axis, tissue grade organisation, and nervous system. We report here for the first time presence of XPA gene in hydra. Putative protein sequence of hydra XPA contains nuclear localization signal and bears the zinc-finger motif. It contains two conserved Pfam domains and various characterized features of XPA proteins like regions for binding to excision repair cross-complementing protein-1 (ERCC1 and replication protein A 70 kDa subunit (RPA70 proteins. Hydra XPA shows a high degree of similarity with vertebrate homologs and clusters with deuterostomes in phylogenetic analysis. Homology modelling corroborates the very close similarity between hydra and human XPA. The protein thus most likely functions in hydra in the same manner as in other animals, indicating that it arose early in evolution and has been conserved across animal phyla.

  9. Whole-exome sequencing of fibroblast and its iPS cell lines derived from a patient diagnosed with xeroderma pigmentosum

    Directory of Open Access Journals (Sweden)

    Kohji Okamura

    2015-12-01

    Full Text Available Cells from a patient with a DNA repair-deficiency disorder are anticipated to bear a large number of somatic mutations. Because such mutations occur independently in each cell, there is a high degree of mosaicism in patients' tissues. While major mutations that have been expanded in many cognate cells are readily detected by sequencing, minor ones are overlaid with a large depth of non-mutated alleles and are not detected. However, cell cloning enables us to observe such cryptic mutations as well as major mutations. In the present study, we focused on a fibroblastic cell line that is derived from a patient diagnosed with xeroderma pigmentosum (XP, which is an autosomal recessive disorder caused by a deficiency in nucleotide excision repair. By making a list of somatic mutations, we can expect to see a characteristic pattern of mutations caused by the hereditary disorder. We cloned a cell by generating an iPS cell line and performed a whole-exome sequencing analysis of the progenitor and its iPS cell lines. Unexpectedly, we failed to find causal mutations in the XP-related genes, but we identified many other mutations including homozygous deletion of GSTM1 and GSTT1. In addition, we found that the long arm of chromosome 9 formed uniparental disomy in the iPS cell line, which was also confirmed by a structural mutation analysis using a SNP array. Type and number of somatic mutations were different from those observed in XP patients. Taken together, we conclude that the patient might be affected by a different type of the disorder and that some of the mutations that we identified here may be responsible for exhibiting the phenotype. Sequencing and SNP-array data have been submitted to SRA and GEO under accession numbers SRP059858 and GSE55520, respectively.

  10. A YAC contig spanning the nevoid basal cell carcinoma syndrome, Fanconi anaemia group C, and xeroderma pigmentosum group A loci on chromosome 9q

    Energy Technology Data Exchange (ETDEWEB)

    Morris, D.J.; Reis, A. [Freie Universtiaet, Berlin (Germany)

    1994-09-01

    Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is an autosomal dominant disorder, characterized primarily by multiple basal cell carcinomas, epithelium-lined jaw cysts, and palmar and plantar pits, as well as various other features. Loss of heterozygosity studies and linkage analysis have mapped the NBCCS gene to chromosome 9q and suggested that it is a tumor suppressor. The apparent sensitivity of NBCCS patients to UV and X-irradiation raises the possibility of hypersensitivity to DNA-damaging reagents or defective DNA repair being etiological in the disorder. The recent mapping of the Fanconi anaemia group C (FACC) and xeroderma pigmentosum complementing group A (XPAC) genes to the same region on 9q has led us to begin the molecular dissection of the 9q22-q31 region. PCR analysis of the presence or absence of 10 microsatellite markers and exons 3 and 4 of the XPAC and FACC genes, respectively, allowed us to order 12 YACs into an overlapping contig and to order the markers as follows: D9S151/D9S12P1-D9S12P2-D9S197-D9S196-D9S280-FACC-D9S287/XPAC-D9S180-D9S6-D9S176. Sizing of the YACs has provided an initial estimate of the size of the NBCCS candidate region between D9S12 and D9S180 to be less than 1.65 Mb. 45 refs., 1 fig., 1 tab.

  11. An altered redox balance and increased genetic instability characterize primary fibroblasts derived from xeroderma pigmentosum group A patients

    Energy Technology Data Exchange (ETDEWEB)

    Parlanti, Eleonora [Department of Environment and Primary Prevention, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome (Italy); Pietraforte, Donatella; Iorio, Egidio; Visentin, Sergio; De Nuccio, Chiara [Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome (Italy); Zijno, Andrea; D’Errico, Mariarosaria; Simonelli, Valeria [Department of Environment and Primary Prevention, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome (Italy); Sanchez, Massimo [Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome (Italy); Fattibene, Paola [Department of Technology and Health, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome (Italy); Falchi, Mario [National AIDS Center, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome (Italy); Dogliotti, Eugenia, E-mail: dogliotti@iss.it [Department of Environment and Primary Prevention, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome (Italy)

    2015-12-15

    Highlights: • Increased levels and different types of intracellular radical species as well as an altered glutathione redox state characterize XP-A human cells when compared to normal. • A more glycolytic metabolism and higher ATP levels are associated with alteration of mitochondrial morphology and response to mitochondrial toxicants when XPA is defective. • XP-A human cells show increased spontaneous micronuclei frequency, a hallmark of cancer risk. - Abstract: Xeroderma pigmentosum (XP)-A patients are characterized by increased solar skin carcinogenesis and present also neurodegeneration. XPA deficiency is associated with defective nucleotide excision repair (NER) and increased basal levels of oxidatively induced DNA damage. In this study we search for the origin of increased levels of oxidatively generated DNA lesions in XP-A cell genome and then address the question of whether increased oxidative stress might drive genetic instability. We show that XP-A human primary fibroblasts present increased levels and different types of intracellular reactive oxygen species (ROS) as compared to normal fibroblasts, with O{sub 2−}· and H{sub 2}O{sub 2} being the major reactive species. Moreover, XP-A cells are characterized by decreased reduced glutathione (GSH)/oxidized glutathione (GSSG) ratios as compared to normal fibroblasts. The significant increase of ROS levels and the alteration of the glutathione redox state following silencing of XPA confirmed the causal relationship between a functional XPA and the control of redox balance. Proton nuclear magnetic resonance ({sup 1}H NMR) analysis of the metabolic profile revealed a more glycolytic metabolism and higher ATP levels in XP-A than in normal primary fibroblasts. This perturbation of bioenergetics is associated with different morphology and response of mitochondria to targeted toxicants. In line with cancer susceptibility, XP-A primary fibroblasts showed increased spontaneous micronuclei (MN) frequency, a

  12. Effects of microinjected photoreactivating enzyme on thymine dimer removal and DNA repair synthesis in normal human and xeroderma pigmentosum fibroblasts

    Energy Technology Data Exchange (ETDEWEB)

    Roza, L.; Vermeulen, W.; Bergen Henegouwen, J.B.; Eker, A.P.; Jaspers, N.G.; Lohman, P.H.; Hoeijmakers, J.H. (TNO Medical Biological Laboratory, Rijswijk (Netherlands))

    1990-03-15

    UV-induced thymine dimers (10 J/m2 of UV-C) were assayed in normal human and xeroderma pigmentosum (XP) fibroblasts with a monoclonal antibody against these dimers and quantitative fluorescence microscopy. In repair-proficient cells dimer-specific immunofluorescence gradually decreased with time, reaching about 25% of the initial fluorescence after 27 h. Rapid disappearance of dimers was observed in cells which had been microinjected with yeast photoreactivating enzyme prior to UV irradiation. This photoreactivation (PHR) was light dependent and (virtually) complete within 15 min of PHR illumination. In general, PHR of dimers strongly reduces UV-induced unscheduled DNA synthesis (UDS). However, when PHR was applied immediately after UV irradiation, UDS remained unchanged initially; the decrease set in only after 30 min. When PHR was performed 2 h after UV exposure, UDS dropped without delay. An explanation for this difference is preferential removal of some type(s) of nondimer lesions, which is responsible for the PHR-resistant UDS immediately following UV irradiation. After the rapid removal of these photoproducts, the bulk of UDS is due to dimer repair. From the rapid effect of dimer removal by PHR on UDS it can be deduced that the excision of dimers up to the repair synthesis step takes considerably less than 30 min. Also in XP fibroblasts of various complementation groups the effect of PHR was investigated. The immunochemical dimer assay showed rapid PHR-dependent removal comparable to that in normal cells. However, the decrease of (residual) UDS due to PHR was absent (in XP-D) or much delayed (in XP-A and -E) compared to normal cells. This supports the idea that in these XP cells preferential repair of nondimer lesions does occur, but at a much lower rate.

  13. DNA excision-repair defect of xeroderma pigmentosum prevents removal of a class of oxygen free radical-induced base lesions.

    Science.gov (United States)

    Satoh, M S; Jones, C J; Wood, R D; Lindahl, T

    1993-07-01

    Plasmid DNA was gamma-irradiated or treated with H2O2 in the presence of Cu2+ to generate oxygen free radical-induced lesions. Open circular DNA molecules were removed by ethidium bromide/CsCl density gradient centrifugation. The closed circular DNA fraction was treated with the Escherichia coli reagent enzymes endonuclease III (Nth protein) and Fpg protein. This treatment converted DNA molecules containing the major base lesions pyrimidine hydrates and 8-hydroxyguanine to a nicked form. Remaining closed circular DNA containing other oxygen radical-induced base lesions was used as a substrate for nucleotide excision-repair in a cell-free system. Extracts from normal human cells, but not extracts from xeroderma pigmentosum cells, catalyzed repair synthesis in this DNA. The repair defect in the latter extracts could be specifically corrected by in vitro complementation. The data suggest that accumulation of endogenous oxidative damage in cellular DNA from xeroderma pigmentosum patients contributes to the increased frequency of internal cancers and the neural degeneration occurring in serious cases of the syndrome.

  14. Microinjection of Escherichia coli UvrA, B, C and D proteins into fibroblasts of xeroderma pigmentosum complementation groups A and C does not result in restoration of UV-induced DNA synthesis.

    NARCIS (Netherlands)

    J.C.M. Zwetsloot; A.P. Barbeiro; W. Vermeulen (Wim); J.H.J. Hoeijmakers (Jan); C.M.P. Backendorf (Claude)

    1986-01-01

    textabstractThe UV-induced unscheduled DNA synthesis (UDS) in cultured human fibroblasts of repair-deficient xeroderma pigmentosum complementation groups A and C was assayed after injection of identical activities of either Uvr excinuclease (UvrA, B, C and D) from Escherichia coli or endonuclease V

  15. A criocirurgia como tratamento alternativo do xerodema pigmentoso = The criosurgery as alternative treatment of xeroderma pigmentosum

    Directory of Open Access Journals (Sweden)

    Antunes, Antonio Azoubel

    2007-01-01

    Full Text Available A criocirurgia consiste em tratar lesões patológicas da pele e mucosas pelo congelamento intenso da área afetada. Sua indicação deve obedecer a critérios de avaliação, como o aspecto macroscópico da lesão, tamanho, tipo histológico, localização e idade do paciente, sendo indicado para o tratamento das lesões provenientes do Xeroderma Pigmentoso (XP. O objetivo do presente estudo é instituir a experiência dos autores quanto ao uso da criocirurgia no tratamento de 12 pacientes com lesões em pele e mucosa da região da cabeça e pescoço associadas ao XP, em um período de 25 anos, discutindo suas aplicações e aspectos de sucesso e insucesso. Durante o período de abril de 1977 a abril de 2002 (25 anos, foram tratados pela criocirurgia, no Centro de Oncologia (CEON do Hospital Universitário Oswaldo Cruz (HUOC – Universidade de Pernambuco (UPE, Departamento de Cabeça e Pescoço – Hospital de Câncer de Pernambuco e na clínica privada de um dos autores, 1900 (mil e novecentos casos de pacientes portadores de lesões benignas e malignas da pele e mucosa na região de cabeça e pescoço, dos quais 12 pacientes (0,7% eram portadores de XP. Do total da amostra, 66,6% eram do sexo masculino e todos os casos ocorreram na 1ª e 2ª décadas de vida. A criocirurgia constitui-se um excelente método alternativo de tratamento para as lesões de pele e mucosa decorrentes do XP, sempre que indicada de maneira criteriosa

  16. Enzyme therapy of xeroderma pigmentosum: safety and efficacy testing of T4N5 liposome lotion containing a prokaryotic DNA repair enzyme.

    Science.gov (United States)

    Yarosh, D; Klein, J; Kibitel, J; Alas, L; O'Connor, A; Cummings, B; Grob, D; Gerstein, D; Gilchrest, B A; Ichihashi, M; Ogoshi, M; Ueda, M; Fernandez, V; Chadwick, C; Potten, C S; Proby, C M; Young, A R; Hawk, J L

    1996-06-01

    Xeroderma pigmentosum (XP) is a rare genetic disease in which patients are defective in DNA repair and are extremely sensitive to solar UV radiation exposure. A new treatment approach was tested in these patients, in which a prokaryotic DNA repair enzyme specific for UV-induced DNA damage was delivered into the skin by means of topically applied liposomes to supplement the deficient activity. Acute and chronic safety testing in both mice and humans showed neither adverse reactions nor significant changes in serum chemistry or in skin histology. The skin of XP patients treated with the DNA repair liposomes had fewer cyclobutylpyrimidine dimers in DNA and showed less erythema than did control sites. The results encourage further clinical testing of this new enzyme therapy approach.

  17. Understanding Xeroderma Pigmentosum

    Science.gov (United States)

    ... afternoon hours— a time of day when your shadow is much longer than your height. When XP ... such as zinc oxide, titanium dioxide, sun-blocking makeup, or sun- screens. Sunscreens with a sun protec- ...

  18. The rem Mutations in the ATP-Binding Groove of the Rad3/XPD Helicase Lead to Xeroderma pigmentosum-Cockayne Syndrome-Like Phenotypes

    Science.gov (United States)

    Montelone, Beth A.; Aguilera, Andrés

    2014-01-01

    The eukaryotic TFIIH complex is involved in Nucleotide Excision Repair and transcription initiation. We analyzed three yeast mutations of the Rad3/XPD helicase of TFIIH known as rem (recombination and mutation phenotypes). We found that, in these mutants, incomplete NER reactions lead to replication fork breaking and the subsequent engagement of the homologous recombination machinery to restore them. Nevertheless, the penetrance varies among mutants, giving rise to a phenotype gradient. Interestingly, the mutations analyzed reside at the ATP-binding groove of Rad3 and in vivo experiments reveal a gain of DNA affinity upon damage of the mutant Rad3 proteins. Since mutations at the ATP-binding groove of XPD in humans are present in the Xeroderma pigmentosum-Cockayne Syndrome (XP-CS), we recreated rem mutations in human cells, and found that these are XP-CS-like. We propose that the balance between the loss of helicase activity and the gain of DNA affinity controls the capacity of TFIIH to open DNA during NER, and its persistence at both DNA lesions and promoters. This conditions NER efficiency and transcription resumption after damage, which in human cells would explain the XP-CS phenotype, opening new perspectives to understand the molecular basis of the role of XPD in human disease. PMID:25500814

  19. Evidence that in xeroderma pigmentosum variant cells, which lack DNA polymerase eta, DNA polymerase iota causes the very high frequency and unique spectrum of UV-induced mutations.

    Science.gov (United States)

    Wang, Yun; Woodgate, Roger; McManus, Terrence P; Mead, Samantha; McCormick, J Justin; Maher, Veronica M

    2007-04-01

    Xeroderma pigmentosum variant (XPV) patients have normal DNA excision repair, yet are predisposed to develop sunlight-induced cancer. They exhibit a 25-fold higher than normal frequency of UV-induced mutations and very unusual kinds (spectrum), mainly transversions. The primary defect in XPV cells is the lack of functional DNA polymerase (Pol) eta, the translesion synthesis DNA polymerase that readily inserts adenine nucleotides opposite photoproducts involving thymine. The high frequency and striking difference in kinds of UV-induced mutations in XPV cells strongly suggest that, in the absence of Pol eta, an abnormally error-prone polymerase substitutes. In vitro replication studies of Pol iota show that it replicates past 5'T-T3' and 5'T-U3' cyclobutane pyrimidine dimers, incorporating G or T nucleotides opposite the 3' nucleotide. To test the hypothesis that Pol iota causes the high frequency and abnormal spectrum of UV-induced mutations in XPV cells, we identified an unlimited lifespan XPV cell line expressing two forms of Pol iota, whose frequency of UV-induced mutations is twice that of XPV cells expressing one form. We eliminated expression of one form and compared the parental cells and derivatives for the frequency and kinds of UV-induced mutations. All exhibited similar sensitivity to the cytotoxicity of UV((254 nm)), and the kinds of mutations induced were identical, but the frequency of mutations induced in the derivatives was reduced to UV-induced mutations, and ultimately their malignant transformation.

  20. XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.

    Science.gov (United States)

    Khan, Sikandar G; Yamanegi, Koji; Zheng, Zhi-Ming; Boyle, Jennifer; Imoto, Kyoko; Oh, Kyu-Seon; Baker, Carl C; Gozukara, Engin; Metin, Ahmet; Kraemer, Kenneth H

    2010-02-01

    Mutations in two branch-point sequences (BPS) in intron 3 of the XPC DNA repair gene affect pre-mRNA splicing in association with xeroderma pigmentosum (XP) with many skin cancers (XP101TMA) or no skin cancer (XP72TMA), respectively. To investigate the mechanism of these abnormalities we now report that transfection of minigenes with these mutations revealed abnormal XPC pre-mRNA splicing that mimicked pre-mRNA splicing in the patients' cells. DNA oligonucleotide-directed RNase H digestion demonstrated that mutations in these BPS disrupt U2 snRNP-BPS interaction. XP101TMA cells had no detectable XPC protein but XP72TMA had 29% of normal levels. A small amount of XPC protein was detected at sites of localized ultraviolet (UV)-damaged DNA in XP72TMA cells which then recruited other nucleotide excision repair (NER) proteins. In contrast, XP101TMA cells had no detectable recruitment of XPC or other NER proteins. Post-UV survival and photoproduct assays revealed greater reduction in DNA repair in XP101TMA cells than in XP72TMA. Thus mutations in XPC BPS resulted in disruption of U2 snRNP-BPS interaction leading to abnormal pre-mRNA splicing and reduced XPC protein. At the cellular level these changes were associated with features of reduced DNA repair including diminished NER protein recruitment, reduced post-UV survival and impaired photoproduct removal.

  1. Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition

    NARCIS (Netherlands)

    J. de Boer (Jan); C.F. van Kreijl (Coen); G. Weeda (Geert); F.R. de Gruijl (Frank); D. Bootsma (Dirk); H. van Steeg (Harry); R.J.W. Berg (Rob); J. Garssen (Johan); J. de Wit (Jan); C.T. van Oostrum; R.B. Beems (Rudolf); J.H.J. Hoeijmakers (Jan); G.T.J. van der Horst (Gijsbertus)

    1999-01-01

    textabstractPatients with the nucleotide excision repair (NER) disorder xeroderma pigmentosum (XP) are highly predisposed to develop sunlight-induced skin cancer, in remarkable contrast to photosensitive NER-deficient trichothiodystrophy (TTD) patients carrying mutations in the sam

  2. RAD25 (SSL2), the yeast homolog of the human xeroderma pigmentosum group B DNA repair gene, is essential for viability

    Energy Technology Data Exchange (ETDEWEB)

    Park, E.; Prakash, L. (Univ. of Rochester School of Medicine, NY (United States)); Guzder, S.N.; Prakash, S. (Univ. of Rochester, NY (United States)); Koken, M.H.M.; Jaspers-Dekker, I.; Weeda, G.; Hoeijmakers, H.J. (Erasmus Univ., Rotterdam (Netherlands))

    1992-12-01

    Xeroderma pigmentosum (XP) patients are extremely sensitive to ultraviolet (UV) light and suffer from a high incidence of skin cancers, due to a defect in nucleotide excision repair. The disease is genetically heterogeneous, and seven complementation groups, A-G, have been identified. Homologs of human excision repair genes ERCC1, XPDC/ERCC2, and XPAC have been identified in the yeast Saccharomyces cerevisiae. Since no homolog of human XPBC/ERCC3 existed among the known yeast genes, we cloned the yeast homolog by using XPBC cDNA as a hybridization probe. The yeast homolog, RAD25 (SSL2), encodes a protein of 843 amino acids (M[sub r] 95,356). The RAD25 (SSL2)- and XPCX-encoded proteins share 55% identical and 72% conserved amino acid residues, and the two proteins resemble one another in containing the conserved DNA helicase sequence motifs. A nonsense mutation at codon 799 that deletes the 45 C-terminal amino acid residues in RAD25 (SSL2) confers UV sensitivity. This mutation shows epistasis with genes in the excision repair group, whereas a synergistic increase in UN sensitivity occurs when it is combined with mutations in genes in other DNA repair pathways, indicating that RAD25 (SSL2) functions in excision repair but not in other repair pathways. We also show that RAD25 (SSL2) is an essential gene. A mutation of the Lys[sup 392] residue to arginine in the conserved Walker type A nucleotide-binding motif is lethal, suggesting an essential role of the putative RAD 25 (SSL2) ATPase/DNA helicase activity in viability. 40 refs., 3 figs., 1 tab.

  3. The role of UV induced lesions in skin carcinogenesis: an overview of oncogene and tumor suppressor gene modifications in xeroderma pigmentosum skin tumors

    Energy Technology Data Exchange (ETDEWEB)

    Daya-Grosjean, Leela [Laboratory of Genetic Instability and Cancer, UPR2169 CNRS, IFR 54, Institut Gustave Roussy, 39, rue Camille Desmoulins, 94805 Villejuif Cedex (France)]. E-mail: daya@igr.fr; Sarasin, Alain [Laboratory of Genetic Instability and Cancer, UPR2169 CNRS, IFR 54, Institut Gustave Roussy, 39, rue Camille Desmoulins, 94805 Villejuif Cedex (France)

    2005-04-01

    Xeroderma pigmentosum (XP), a rare hereditary syndrome, is characterized by a hypersensitivity to solar irradiation due to a defect in nucleotide excision repair resulting in a predisposition to squamous and basal cell carcinomas as well as malignant melanomas appearing at a very early age. The mutator phenotype of XP cells is evident by the higher levels of UV specific modifications found in key regulatory genes in XP skin tumors compared to those in the same tumor types from the normal population. Thus, XP provides a unique model for the study of unrepaired DNA lesions, mutations and skin carcinogenesis. The high level of ras oncogene activation, Ink4a-Arf and p53 tumor suppressor gene modifications as well as alterations of the different partners of the mitogenic sonic hedgehog signaling pathway (patched, smoothened and sonic hedgehog), characterized in XP skin tumors have clearly demonstrated the major role of the UV component of sunlight in the development of skin tumors. The majority of the mutations are C to T or tandem CC to TT UV signature transitions, occurring at bipyrimidine sequences, the specific targets of UV induced lesions. These characteristics are also found in the same genes modified in sporadic skin cancers but with lower frequencies confirming the validity of studying the XP model. The knowledge gained by studying XP tumors has given us a greater perception of the contribution of genetic predisposition to cancer as well as the consequences of the many alterations which modulate the activities of different genes affecting crucial pathways vital for maintaining cell homeostasis.

  4. Checkpoint Kinase ATR Promotes Nucleotide Excision Repair of UV-induced DNA Damage via Physical Interaction with Xeroderma Pigmentosum Group A*

    Science.gov (United States)

    Shell, Steven M.; Li, Zhengke; Shkriabai, Nikolozi; Kvaratskhelia, Mamuka; Brosey, Chris; Serrano, Moises A.; Chazin, Walter J.; Musich, Phillip R.; Zou, Yue

    2009-01-01

    In response to DNA damage, eukaryotic cells activate a series of DNA damage-dependent pathways that serve to arrest cell cycle progression and remove DNA damage. Coordination of cell cycle arrest and damage repair is critical for maintenance of genomic stability. However, this process is still poorly understood. Nucleotide excision repair (NER) and the ATR-dependent cell cycle checkpoint are the major pathways responsible for repair of UV-induced DNA damage. Here we show that ATR physically interacts with the NER factor Xeroderma pigmentosum group A (XPA). Using a mass spectrometry-based protein footprinting method, we found that ATR interacts with a helix-turn-helix motif in the minimal DNA-binding domain of XPA where an ATR phosphorylation site (serine 196) is located. XPA-deficient cells complemented with XPA containing a point mutation of S196A displayed a reduced repair efficiency of cyclobutane pyrimidine dimers as compared with cells complemented with wild-type XPA, although no effect was observed for repair of (6-4) photoproducts. This suggests that the ATR-dependent phosphorylation of XPA may promote NER repair of persistent DNA damage. In addition, a K188A point mutation of XPA that disrupts the ATR-XPA interaction inhibits the nuclear import of XPA after UV irradiation and, thus, significantly reduced DNA repair efficiency. By contrast, the S196A mutation has no effect on XPA nuclear translocation. Taken together, our results suggest that the ATR-XPA interaction mediated by the helix-turn-helix motif of XPA plays an important role in DNA-damage responses to promote cell survival and genomic stability after UV irradiation. PMID:19586908

  5. Irradiation with ultraviolet light and gamma-rays increases the level of DNA topoisomerase II in nuclei of normal and xeroderma pigmentosum fibroblasts.

    Science.gov (United States)

    Thielmann, H W; Popanda, O

    1998-02-01

    DNA topoisomerase II was monitored with the monoclonal antibody Ki-S1 in human fibroblasts after irradiation of cells with 254-nm UV light and -rays from a 137Cs source. DNA topoisomerase II was localized immunohistochemically as bright fluorescent dots in the karyoplasm. Investigated fibroblasts originated from normal human donors and a xeroderma pigmentosum patient (XP12BE). All cell lines showed a time and dose-dependent increase in DNA topoisomerase II abundance after irradiation. The increase may reflect enhanced accessibility of the enzyme, enhanced gene expression or enhanced stabilization of mRNA or protein molecules. The effect was detectable as early as 1 h after irradiation at doses 3 J/m2 or 3 Gy. It passed through a maximum and decreased within 18 h (UV light) or 6 h ( -rays). Except for the duration of the response, no principal differences were seen between the effects caused by UV light and those elicited by -rays. The increase in enzyme levels might be part of the well-known DNA damage responses which operate in cell-protective or DNA-reparative pathways or may reflect initiation of apoptosis. DNA topoisomerase I was detected with a commercially available polyclonal antibody raised against human DNA topoisomerase I. In unirradiated cells, DNA topoisomerase I was found to be mainly concentrated in nucleoli. Irradiation with -rays changed the staining pattern in that it caused a multitude of DNA topoisomerase I-rich centers to occur which may reflect sites of transcription of radiation-inducible genes.

  6. Affinity purification of human DNA repair/transcription factor TFIIH using epitope-tagged xeroderma pigmentosum B protein

    NARCIS (Netherlands)

    G.S. Winkler (Sebastiaan); W. Vermeulen (Wim); F. Coin (Frédéric); G. Weeda (Geert); J.H.J. Hoeijmakers (Jan); J-M. Egly (Jean-Marc)

    1998-01-01

    textabstractTFIIH is a high molecular weight complex with a remarkable dual function in nucleotide excision repair and initiation of RNA polymerase II transcription. Mutations in the largest subunits, the XPB and XPD helicases, are associated with three inherited disorders: xeroder

  7. Immunochemical determination of an initial step in thymine dimer excision repair in xeroderma pigmentosum variant fibroblasts and biopsy material from the normal population and patients with basal cell carcinoma and melanoma

    Energy Technology Data Exchange (ETDEWEB)

    Roth, M.; Mueller, H.B.; Boyle, J.M.

    1987-09-01

    A monoclonal antibody specific for u.v.-induced thymine-thymine dimers in single-stranded DNA has been used in an enzyme immunoassay to investigate the loss of antigenicity associated with repair of this lesion in the first 2 h following 10 J/m/sup 2/ 254 nm radiation. Variances of +/- 10% for the method and +/- 6.5% for individuals were established using primary cultures of biopsies from healthy individuals. No differences in the rate of loss of antigenicity was observed between 20 normal lymphocyte samples and 10 normal skin biopsies. Of three xeroderma pigmentosum (XP) variant cell lines tested, GM3617 could not be distinguished from normal cells but GM1227 and GM3053 showed lower rates of loss than any of the healthy samples. When the group mean values were compared there was no significant difference between normals and biopsies from sun-shielded skin areas from 16 basal cell carcinomas but similar material from 10 melanoma patients showed a significantly reduced (P = 0.001) rate of loss of antigenicity. Since the rate of loss of antigenicity in normal and XP variant cells reflected their relative abilities to perform unscheduled DNA synthesis, our results suggest that some melanoma patients may also have a minor deficiency in an early stage of excision repair.

  8. Hereditary orotic aciduria, Lesch-Nyhan syndrome, and xeroderma pigmentosum probed by herpes simplex virus: /sup 125/I-iododeoxycytidine incorporation as an assay for viral growth. [Human fibroblasts

    Energy Technology Data Exchange (ETDEWEB)

    Campisi, J.; Hafner, J.; Boorstein, R.; Pardee, A.B.

    1983-01-01

    /sup 125/I-Iododeoxycytidine (/sup 125/IdC) incorporation into acid-insoluble material was a sensitive, rapid, and quantitative assay for the growth of herpes simplex virus type 1 (HSV-1) in human fibroblasts. Cellular utilization of the isotope was 10 to 25% of the incorporation by infected cells and could be 80% inhibited by tetrahydrouridine (THU). Viral utilization was inhibited by acycloguanosine, thioguanine (TG), and cytosine arabinoside. Isotope was incorporated equally well by growing or quiescent infected cells. HSV-1 was used to probe the metabolic capabilities of three mutant human fibroblast strains. /sup 125/IdC incorporation quantitatively measured the ability of the virus to grow in these cells. Viral /sup 125/IdC incorporation was sensitive to TG in normal fibroblasts but showed a 8- to 10-fold greater resistance to TG in fibroblasts derived from patients with Lesch-Nyhan syndrome (LN). Similarly, the growth of ultraviolet irradiated HSV-1 in normal fibroblasts was 5-fold greater than in fibroblasts derived from patients with xeroderma pigmentosum. In fibroblasts derived from patients with hereditary orotic aciduria, viral /sup 125/IdC incorporation was sensitive to adenosine (AD) at concentrations which were slightly stimulatory in normal fibroblasts. This was a 2-fold difference in AD sensitivity, which the radioassay reliably and quantitatively documented. HSV-1 infected cells could be individually identified by their incorporated /sup 125/IdC; such cells had blackened nuclei in autoradiograms prepared 12 hr after infection. Normal cells infected in the presence of TG had many fewer labeled nuclei than LN cells similarly infected in the presence of the drug. (JMT)

  9. Preventive Long-Term Effects of a Topical Film-Forming Medical Device with Ultra-High UV Protection Filters and DNA Repair Enzyme in Xeroderma Pigmentosum: A Retrospective Study of Eight Cases

    Directory of Open Access Journals (Sweden)

    Sandra Giustini

    2014-09-01

    Full Text Available Skin cancer is common in xeroderma pigmentosum (XP due to a DNA repair mechanisms genetic defect. Ultraviolet (UV exposure is the main cause of increased incidence of actinic keratosis (AK, basal cell carcinoma (BCC and squamous cell carcinoma (SCC observed in XP subjects. Photoprotection is therefore a mandatory strategy in order to reduce skin damage. A topical DNA repair enzyme has been shown to slow down the development of skin lesions in XP. However, there are no data regarding the effects of photoprotection combined with DNA repair strategies in this clinical setting. A film-forming medical device containing the DNA repair enzyme photolyase and very high-protection UV filters (Eryfotona AK-NMSC, Ery is currently available. We report retrospective data regarding the use of Ery in 8 patients (5 women, 3 men with a diagnosis of XP treated for at least 12 consecutive months, comparing the rate of new skin lesions (AK, BCC and SCC during active treatment with Ery and during 12 months just before the use of the product. New AK, BCC and SCC mean lesion numbers during the 1-year Ery treatment were 5, 3 and 0, respectively in comparison with 14, 6.8 and 3 lesions, respectively during the 1-year pre-treatment period. Ery use was associated with a 65% reduction in appearance of new AK lesions and with 56 and 100% reductions in the incidence of new BCC and SCC lesions, respectively. These data suggest that topical use of photoprotection and DNA repair enzyme could help lower skin cancer lesions in XP. Control prospective trials are advisable in this clinical setting.

  10. Remarkable induction of UV-signature mutations at the 3'-cytosine of dipyrimidine sites except at 5'-TCG-3' in the UVB-exposed skin epidermis of xeroderma pigmentosum variant model mice.

    Science.gov (United States)

    Ikehata, Hironobu; Chang, Yumin; Yokoi, Masayuki; Yamamoto, Masayuki; Hanaoka, Fumio

    2014-10-01

    The human POLH gene is responsible for the variant form of xeroderma pigmentosum (XP-V), a genetic disease highly susceptible to cancer on sun-exposed skin areas, and encodes DNA polymerase η (polη), which is specialized for translesion DNA synthesis (TLS) of UV-induced DNA photolesions. We constructed polη-deficient mice transgenic with lacZ mutational reporter genes to study the effect of Polh null mutation (Polh(-/-)) on mutagenesis in the skin after UVB irradiation. UVB induced lacZ mutations with remarkably higher frequency in the Polh(-/-) epidermis and dermis than in the wild-type (Polh(+/+)) and heterozygote. DNA sequences of a hundred lacZ mutants isolated from the epidermis of four UVB-exposed Polh(-/-) mice were determined and compared with mutant sequences from irradiated Polh(+)(/)(+) mice. The spectra of the mutations in the two genotypes were both highly UV-specific and dominated by C→T transitions at dipyrimidines, namely UV-signature mutations. However, sequence preferences of the occurrence of UV-signature mutations were quite different between the two genotypes: the mutations occurred at a higher frequency preferentially at the 5'-TCG-3' sequence context than at the other dipyrimidine contexts in the Polh(+/+) epidermis, whereas the mutations were induced remarkably and exclusively at the 3'-cytosine of almost all dipyrimidine contexts with no preference for 5'-TCG-3' in the Polh(-/-) epidermis. In addition, in Polh(-/-) mice, a small but remarkable fraction of G→T transversions was also observed exclusively at the 3'-cytosine of dipyrimidine sites, strongly suggesting that these transversions resulted not from oxidative damage but from UV photolesions. These results would reflect the characteristics of the error-prone TLS functioning in the bypass of UV photolesions in the absence of polη, which would be mediated by mechanisms based on the two-step model of TLS. On the other hand, the deamination model would explain well the mutation

  11. Mouse model for the DNA repair/basal transcription disorder Trichothiodystrophy reveals cancer predisposition.

    NARCIS (Netherlands)

    J. de Boer (Jan); H. van Steeg (Harry); R.J.W. Berg (Rob); J. Garssen (Johan); J. de Wit (Jan); C.T.M. van Oostrom (Conny); R.B. Beems (Rudolf); G.T.J. van der Horst (Gijsbertus); C.F. van Kreijl (Coen); F.R. de Gruijl (Frank); D. Bootsma (Dirk); J.H.J. Hoeijmakers (Jan); G. Weeda (Geert)

    1999-01-01

    textabstractPatients with the nucleotide excision repair (NER) disorder xeroderma pigmentosum (XP) are highly predisposed to develop sunlight-induced skin cancer, in remarkable contrast to photosensitive NER-deficient trichothiodystrophy (TTD) patients carrying mutations in the same XPD gene. XPD en

  12. Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light

    Energy Technology Data Exchange (ETDEWEB)

    Lehmann, A.R.; Arlett, C.F.; Broughton, B.C.; Harcourt, S.A.; Steingrimsdottir, H.; Stefanini, M.; Malcolm, A.; Taylor, R.; Natarajan, A.T.; Green, S.

    1988-11-01

    Trichothiodystrophy (TTD) is an autosomal recessive disorder characterized by brittle hair with reduced sulfur content, ichthyosis, peculiar face, and mental and physical retardation. Some patients are photosensitive. A previous study by Stefanini et al. showed that cells from four photosensitive patients with TTD had a molecular defect in DNA repair, which was not complemented by cells from xeroderma pigmentosum, complementation group D. In a detailed molecular and cellular study of the effects of UV light on cells cultured from three further TTD patients who did not exhibit photosensitivity we have found an array of different responses. In cells from the first patient, survival, excision repair, and DNA and RNA synthesis following UV irradiation were all normal, whereas in cells from the second patient all these responses were similar to those of excision-defective xeroderma pigmentosum (group D) cells. With the third patient, cell survival measured by colony-forming ability was normal following UV irradiation, even though repair synthesis was only 50% of normal and RNA synthesis was severely reduced. The excision-repair defect in these cells was not complemented by other TTD cell strains. These cellular characteristics of patient 3 have not been described previously for any other cell line. The normal survival may be attributed to the finding that the deficiency in excision-repair is confined to early times after irradiation. Our results pose a number of questions about the relationship between the molecular defect in DNA repair and the clinical symptoms of xeroderma pigmentosum and TTD.

  13. Impact of xeroderma pigmentosum group D gene polymorphism on the risk of pros-tate cancer:a Meta-analysis%人类着色性干皮病基因D基因多态性与前列腺癌易感性的 Met a分析

    Institute of Scientific and Technical Information of China (English)

    戴枫; 祝黎洁; 糜远源

    2015-01-01

    Objective To evaluate the effect of xeroderma pigmentosum group D (XPD) gene polymorphism on the sus‐ceptibility of prostate cancer (PCa) .Methods All eligible studies in databases including Pubmed ,Embase ,WanFang ,CNKI and VIP were searched and data were collected .The association between XPD gene polymorphismand and risk of PCa was e‐valuated with odds ratio ( OR ) and 95% confidence intervals ( CI ) .Statistical analysis was performed with STATA 10 .0 . Results A total of 9 independent case‐control studies with 3 165 PCa patients and 3 539 healthy controls for XPD Gln751Lys SNP (single nucleotide polymorphism) and 2 555 cases and 3 182 controls for Asn312Asp SNP were collected .No significant as‐sociation was found between XPD Gln751Lys SNP and PCa risk .On the other hand ,in subgroup analysis based on ethnicity , associations were observed in Asian (eg .Asn vs .Asp:OR=1 .34 ,95% CI=1 .16-1 .55) and African (eg .Asn vs .Asp:OR=1 .31 ,95% CI=1 .01-1 .70) populations with Asn 312Asp SNP .Conclusion Our investigations demonstrate that XPD Asn 312Asp SNP ,instead of Gln751Lys SNP ,might increase PCa risk in Asians and Africans .%目的:评价人类着色性干皮病基因D Asn312Asp和Gln751Lys多态性位点对于前列腺癌患病风险的影响。方法检索2004年至2014年间在PubMed、Embase、万方、中国知网、维普等数据库中所有相关文献,提取其中数据进行统计学分析。以比值比和95%可信区间评价该位点与前列腺癌易感性的关系。分析软件使用STATA10.0。结果最终筛选出9项研究,分别有3165例前列腺癌患者和3539例对照人群涉及Gln751Lys基因多态性,2555例及3182例对照涉及Asn312Asp基因多态性。总体上,未发现XPD Gln751Lys基因多态性与前列腺癌易感性相关。另一方面,在种族亚组中发现Asn312Asp多态性能增加亚洲(如:Asn vs .Asp:OR=1.54,95% CI=1.24~1.91)及非洲人群(如:Asn vs

  14. Nasal prosthesis for a patient with xeroderma pigmentosum

    Science.gov (United States)

    Kumar, Suresh; Rajtilak, G.; Rajasekar, V.; Kumar, Muthu

    2013-01-01

    Acquired facial defects caused by extirpation of neoplasms, congenital malformations or traumatic injury results in a huge functional, cosmetic and psychological handicap in those patients. These defects can be restored by facial prosthesis using different materials and retention methods to achieve a lifelike appearance and function. This clinical report describes a treatment schedule using silicone nasal prosthesis, which is mechanically retained for a patient who has undergone a partial rhinectomy due to basal cell carcinoma of the nose. The prosthesis was made to restore the esthetic appearance of patient with a mechanically retained design using a spectacle glass frame without any prosthetic adhesives so that the patient is more comfortable and confident to resume daily activities. PMID:23956602

  15. The Promoting Effects of Xeroderma Pigmentosum D Gene on Proliferation of Human Umbilical Vein Endothelia Cells%人剪切修复基因着色性干皮病基因D对人脐静脉内皮细胞的促凋亡作用

    Institute of Scientific and Technical Information of China (English)

    张南; 李菊香; 丁浩; 洪葵; 吴清华; 程晓曙

    2012-01-01

    Aim To investigate pro-apoptosis effects of xeroderma pigmentosum D( XPD) gene on human umbilical vein endothelia cells ( HUVEC). Methods Recombinant plasmid pEGFP-N2/XPD and vacant vector plasmid pEGFP-N2 were transient transfected into HUVEC by lipoaome 2000 method,with the same genetic background and algebra HUVEC as blank controls. The experiments were divided into three groups; control group, pEGFP-N2 group and pEGFP-N2/XPD group. The expression of green fluorescent protein was observed through fluorescence microscopy; the cell apop-losis rate was examined by flow cylometry; through RT-PCR and Western Blot, the expression levels of XPD,Bcl-2 and Bax and wt-p53 were detected jthe cell growth was detected by MTT. Results Green fluorescences were observed in the cells transfected with pEGFP-N2/XPD or pEGFP-N2, indicating that the plasmids were transfected successfully. Flow cy-tometry results showed that overexpression of XPD increased the apoptosic rate of HUVEC (P < 0.05 or P < 0. 01). RT-PCR results and Western Blot results showed that the transfection of pEGFP-N2/XPD increased the expression of XPD,Bax and wt-p53 (P < 0. 05), decreased the expression of Bcl-2 (P < 0.05); MTT results showed thai the transfection of pEG-FP-N2/XPD inhibited the cell growth( P <0. 05). Conclusions XPD gene can promote HUVEC apoptosis. Therefore , down-regulaling the expression of XPD gene is likely to be potential molecular target for treatment of atherosclerosis.%目的 探讨人剪切修复基因着色性干皮病基因D(XPD)对人脐静脉内皮细胞(HUVEC)的促凋亡作用.方法 用脂质体转染法瞬时转染HUVEC,转染重组质粒pEGFP-N2/XPD和空载质粒pEGFP-N2,并用未转染的与重组质粒pEGFP-N2/XPD和空载质粒pEGFP-N2具有相同遗传背景和代数的HUVEC作为空白对照.实验分为3组;正常对照组、pEGFP-N2组和pEGFP-N2/XPD组.用荧光显微镜观察绿色荧光蛋白报告基因表达情况,用流式细胞仪检测细

  16. Expression of xeroderma pigmentosum complementation group C protein predicts cisplatin resistance in lung adenocarcinoma patients.

    Science.gov (United States)

    Lai, Tan-Chen; Chow, Kuan-Chih; Fang, Hsin-Yuan; Cho, Hsin-Ching; Chen, Chih-Yi; Lin, Tze-Yi; Chiang, I-Ping; Ho, Shu-Peng

    2011-05-01

    DNA repair has been suggested to be a major cause of spontaneous drug resistance in patients with lung adenocarcinomas (LADC). Among the DNA repair-related proteins, excision repair cross-complementation group 1 (ERCC1) has been shown to be essential for repairing cisplatin-induced interstrand cross-linkage. However, the role of other DNA repair-related proteins in drug resistance has not been clearly elucidated. In this study, we used suppression subtractive hybridization and microarray analysis to identify the DNA repair-related genes associated with cisplatin resistance. We focused on the association of XPC protein expression, which plays a pivotal role in the earliest response to global genomic repair, with the survival of LADC patients. Using suppression subtractive hybridization and a microarray analysis to identify drug resistance-associated DNA repair-related genes, we found that the mRNA levels of ERCC1, MSH-3, MSH-6 and XPC were significantly increased in LADC patients. Since the results of ERCC1 mRNA expression corresponded well with those in previous reports, in this study we focused on the clinical correlation between XPC expression and patient survival. The level of XPC protein was determined by immunohistochemical and immunoblotting analyses. We detected the XPC protein in 46 (43%) of 107 pathological LADC samples. XPC protein expression correlated with tumor stage, cigarette smoking and poor survival. In the in vitro experiments with LADC cell lines, increased XPC expression was associated with elevated drug resistance, and silencing of XPC expression reduced cisplatin resistance. Our results suggest that XPC expression predicts drug resistance in LADC.

  17. Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases.

    NARCIS (Netherlands)

    E. Eveno; F. Bourre; X. Quilliet; O. Chevalier-Lagente (Odile); L. Roza (Len); A.P.M. Eker (André); W.J. Kleijer (Wim); O. Nikaido; M. Stefanini (Miria); J.H.J. Hoeijmakers (Jan); D. Bootsma (Dirk); J.E. Cleaver; A. Sarasin; M. Mezzina

    1995-01-01

    textabstractTo understand the heterogeneity in genetic predisposition to skin cancer in different nucleotide excision repair-deficient human syndromes, we studied repair of cyclobutane pyrimidine dimers (CPDs) and of pyrimidine(6-4)pyrimidone (6-4PP) photoproducts in cells from trichothiodystrophy (

  18. Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

    DEFF Research Database (Denmark)

    Kralund, Henrik H; Ousager, Lilian; Jaspers, Nicolaas G

    2013-01-01

    outcome from many of these mutations. We demonstrate a patient, believed to represent an overlap between XP and TTD/CS. In addition to other organ dysfunctions, the young man presented with Photosensitivity, Ichthyosis, Brittle hair, Impaired physical and mental development, Decreased fertility and Short...

  19. Unscheduled DNA synthesis in xeroderma pigmentosum cells after microinjection of yeast photoreactivating enzyme.

    NARCIS (Netherlands)

    J.C.M. Zwetsloot; J.H.J. Hoeijmakers (Jan); W. Vermeulen (Wim); A.P.M. Eker (André); D. Bootsma (Dirk)

    1986-01-01

    textabstractPhotoreactivating enzyme (PRE) from yeast causes a light-dependent reduction of UV-induced unscheduled DNA synthesis (UDS) when injected into the cytoplasm of repair-proficieint human fibroblasts (Zwetsloot et al., 1985). This result indicates that the exogenous PRE monomerizers UV-induc

  20. Photomedicine: Volume 2

    Energy Technology Data Exchange (ETDEWEB)

    Ben-hur, E.; Rosenthal, I.

    1987-01-01

    This book describes the idiopathic photodermatoses; xeroderma pigmentosum, beta-carotene therapy for erythropoietic protoporphyria and other photosensitivity diseases; photochemotherapy of psoriasis using the furocoumrains; photochemotherapy of various skin disorders; photodynamic therapy of cancer; and photoimmunotherapy.

  1. DNA excision-repair defect of xeroderma pigmentosum prevents removal of a class of oxygen free radical-induced base lesions.

    OpenAIRE

    Satoh, M S; C. J. Jones; Wood, R D; Lindahl, T

    1993-01-01

    Plasmid DNA was gamma-irradiated or treated with H2O2 in the presence of Cu2+ to generate oxygen free radical-induced lesions. Open circular DNA molecules were removed by ethidium bromide/CsCl density gradient centrifugation. The closed circular DNA fraction was treated with the Escherichia coli reagent enzymes endonuclease III (Nth protein) and Fpg protein. This treatment converted DNA molecules containing the major base lesions pyrimidine hydrates and 8-hydroxyguanine to a nicked form. Rema...

  2. The XPB subunit of repair/transcription factor TFIIH directly interacts with SUG1, a subunit of the 26S proteasome and putative transcription factor.

    NARCIS (Netherlands)

    G. Weeda (Geert); M. Rossignol; R.A. Fraser; G.S. Winkler (Sebastiaan); W. Vermeulen (Wim); L.J. van 't Veer (Laura); L. Ma (Libin); J.H.J. Hoeijmakers (Jan); J-M. Egly (Jean-Marc)

    1997-01-01

    textabstractMutations in the basal transcription initiation/DNA repair factor TFIIH are responsible for three human disorders: xeroderma pigmentosum (XP), cockayne syndrome (CS) and trichothiodystrophy (TTD). The non-repair features of CS and TTD are thought to be due to a partial inactivation of th

  3. A Mouse Model for Trichothiodystrophy

    NARCIS (Netherlands)

    J. de Boer (Jan)

    1999-01-01

    textabstractNucleotide excision repair (NER) is a versatile DNA repair mechanism that safeguards the genome from many types of DNA damages. The importance ofNER is highlighted by three inherited human disorders with defective NER: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodys

  4. Nucleotide excision repair in yeast

    NARCIS (Netherlands)

    Eijk, Patrick van

    2012-01-01

    Nucleotide Excision Repair (NER) is a conserved DNA repair pathway capable of removing a broad spectrum of DNA damage. In human cells a defect in NER leads to the disorder Xeroderma pigmentosum (XP). The yeast Saccharomyces cerevisiae is an excellent model organism to study the mechanism of NER. The

  5. Gclust Server: 112838 [Gclust Server

    Lifescience Database Archive (English)

    Full Text Available XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B 1); ATP-dependent helicase 1 1.00e+00 14.29 0.0 0.0 0.0 0.0 0.... (ARABIDOPSIS HOMOLOG OF XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B 1); ATP-dependent helicase Number of

  6. Gclust Server: 112883 [Gclust Server

    Lifescience Database Archive (English)

    Full Text Available XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B 2); ATP-dependent helicase 1 1.00e+00 14.29 0.0 0.0 0.0 0.0 0.... (ARABIDOPSIS HOMOLOG OF XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B 2); ATP-dependent helicase Number of

  7. Advanced Squamous Cell Carcinoma of Cornea in a Child with ...

    African Journals Online (AJOL)

    causes marked alterations in the skin leading to keratosis, telangiectasia ... Keywords: Squamous cell carcinoma, surgical excision, Xeroderma Pigmentosum. How to cite this .... Typically, the first stage makes its appearance after the age of 6 ...

  8. Uso tópico do inteferon alfa-2b para neoplasia escamosa da superficie ocular em um caso de paciente com xeroderma pigmentoso

    Directory of Open Access Journals (Sweden)

    Nayara Queiroz Cardoso Pinto

    Full Text Available Resumo Relato de um caso clínico de Xeroderma Pigmentoso com carcinoma espinocelular de conjuntiva bilateral que apresentou regressão importante das dimensões tumorais com o uso de Interferon alfa-2b tópico. Relato de caso: Paciente feminina com Xeroderma Pigmentoso em estágio avançado, com ausência de pele sadia, tendo sido submetida a cerca de 60 exéreses de lesões de pele malignas. A paciente compareceu com tumoração conjuntival em ambos os olhos, correspondendo a carcinoma espinocelular de conjuntiva e neoplasia intraepitelial de conjuntiva em olho esquerdo. Devido as dificuldades cirúrgicas, alta taxa de recidiva e elevada probabilidade de formação de simbléfaro foi-se iniciado terapêutica com Interferon alfa-2beta 1.000.000 unidades tópico, obtendo-se bons resultados com importante regressão do tamanho da lesão e resolução dos sintomas. Conclusão: O uso tópico de interferon alfa-2beta em neoplasia escamosa de conjuntiva, mostrou-se uma boa opção terapêutica em situações de elevado risco cirúrgico e de complicações pós operatórias.

  9. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  10. The XPD subunit of TFIIH is required for transcription-associated but not DNA double-strand break-induced recombination in mammalian cells.

    Science.gov (United States)

    Savolainen, Linda; Cassel, Tobias; Helleday, Thomas

    2010-11-01

    Mutations in the XPD gene can give rise to three phenotypically distinct disorders: xeroderma pigmentosum (XP), trichothiodystrophy (TTD) or combined XP and Cockayne syndrome (CS) (XP/CS). The role of Xeroderma Pigmentosum group D protein (XPD) in nucleotide excision repair explains the increased risk of skin cancer in XP patients but not all the clinical phenotypes found in XP/CS or TTD patients. Here, we describe that the XPD-defective UV5 cell line is impaired in transcription-associated recombination (TAR), which can be reverted by the introduction of the wild-type XPD gene expressed from a vector. UV5 cells are defective in TAR, despite having intact transcription and homologous recombination (HR) repair of DNA double-strand breaks (DSBs). Interestingly, we find reduced spontaneous HR in XPD-defective cells, suggesting that transcription underlies a portion of spontaneous HR events. We also report that transcription-coupled repair (TCR)-defective cells, mutated in the Cockayne syndrome B (CSB) protein, have a defect in TAR, but not in DSB-induced HR. However, the TAR defect may be associated with a general transcription defect in CSB-deficient cells. In conclusion, we show a novel role for the XPD protein in TAR, linking TAR with TCR.

  11. Impact of the Circadian Clock on UV-Induced DNA Damage Response and Photocarcinogenesis.

    Science.gov (United States)

    Dakup, Panshak; Gaddameedhi, Shobhan

    2017-01-01

    The skin is in constant exposure to various external environmental stressors, including solar ultraviolet (UV) radiation. Various wavelengths of UV light are absorbed by the DNA and other molecules in the skin to cause DNA damage and induce oxidative stress. The exposure to excessive ultraviolet (UV) radiation and/or accumulation of damage over time can lead to photocarcinogenesis and photoaging. The nucleotide excision repair (NER) system is the sole mechanism for removing UV photoproduct damage from DNA, and genetic disruption of this repair pathway leads to the photosensitive disorder xeroderma pigmentosum (XP). Interestingly, recent work has shown that NER is controlled by the circadian clock, the body's natural time-keeping mechanism, through regulation of the rate-limiting repair factor xeroderma pigmentosum group A (XPA). Studies have shown reduced UV-induced skin cancer after UV exposure in the evening compared to the morning, which corresponds with times of high and low repair capacities, respectively. However, most studies of the circadian clock-NER connection have utilized murine models, and it is therefore important to translate these findings to humans to improve skin cancer prevention and chronotherapy.

  12. A Human XPC Protein Interactome—A Resource

    Directory of Open Access Journals (Sweden)

    Abigail Lubin

    2013-12-01

    Full Text Available Global genome nucleotide excision repair (GG-NER is responsible for identifying and removing bulky adducts from non-transcribed DNA that result from damaging agents such as UV radiation and cisplatin. Xeroderma pigmentosum complementation group C (XPC is one of the essential damage recognition proteins of the GG-NER pathway and its dysfunction results in xeroderma pigmentosum (XP, a disorder involving photosensitivity and a predisposition to cancer. To better understand the identification of DNA damage by XPC in the context of chromatin and the role of XPC in the pathogenesis of XP, we characterized the interactome of XPC using a high throughput yeast two-hybrid screening. Our screening showed 49 novel interactors of XPC involved in DNA repair and replication, proteolysis and post-translational modifications, transcription regulation, signal transduction, and metabolism. Importantly, we validated the XPC-OTUD4 interaction by co-IP and provided evidence that OTUD4 knockdown in human cells indeed affects the levels of ubiquitinated XPC, supporting a hypothesis that the OTUD4 deubiquitinase is involved in XPC recycling by cleaving the ubiquitin moiety. This high-throughput characterization of the XPC interactome provides a resource for future exploration and suggests that XPC may have many uncharacterized cellular functions.

  13. The Children of the Night need your help

    CERN Multimedia

    Antonella Del Rosso

    2015-01-01

    The “Children of the Night” is a colloquial name given to children suffering from Xeroderma pigmentosum (XP), a genetic disorder that causes extreme sensitivity to ultraviolet light. When affected individuals are exposed to the sun, their skin undergoes alterations that can quickly develop into cancer. Special equipment has been developed to protect them from UV exposure but it is uncomfortable and very expensive. The association THE Port has a project to help the children afflicted by the disorder and their families and is looking for experts who can contribute.   Visiting the Synchrocyclotron. Their homes are kept in darkness and they leave them only at nighttime. During the day they can’t go anywhere without a special suit that protects their skin and eyes from the sun’s rays. Mutant genes in their DNA impair their bodies’ capacity to repair and accurately replicate DNA damaged by UV light. This deficiency causes cancers to develo...

  14. DNA repair deficiency in neurodegeneration

    DEFF Research Database (Denmark)

    Jeppesen, Dennis Kjølhede; Bohr, Vilhelm A; Stevnsner, Tinna V.

    2011-01-01

    : homologous recombination and non-homologous end-joining. Ataxia telangiectasia and related disorders with defects in these pathways illustrate that such defects can lead to early childhood neurodegeneration. Aging is a risk factor for neurodegeneration and accumulation of oxidative mitochondrial DNA damage......Deficiency in repair of nuclear and mitochondrial DNA damage has been linked to several neurodegenerative disorders. Many recent experimental results indicate that the post-mitotic neurons are particularly prone to accumulation of unrepaired DNA lesions potentially leading to progressive...... neurodegeneration. Nucleotide excision repair is the cellular pathway responsible for removing helix-distorting DNA damage and deficiency in such repair is found in a number of diseases with neurodegenerative phenotypes, including Xeroderma Pigmentosum and Cockayne syndrome. The main pathway for repairing oxidative...

  15. Tongue Disorders

    Science.gov (United States)

    ... Fundamentals Heart and Blood Vessel Disorders Hormonal and Metabolic Disorders Immune Disorders Infections Injuries and Poisoning Kidney and ... Fundamentals Heart and Blood Vessel Disorders Hormonal and Metabolic Disorders Immune Disorders Infections Injuries and Poisoning Kidney and ...

  16. Mental Disorders

    Science.gov (United States)

    Mental disorders include a wide range of problems, including Anxiety disorders, including panic disorder, obsessive-compulsive disorder, post- ... disorders, including schizophrenia There are many causes of mental disorders. Your genes and family history may play a ...

  17. Functional deficiency of fibroblasts heterozygous for Bloom syndrome as specific manifestation of the primary defect.

    OpenAIRE

    Bartram, C.R.; Rüdiger, H W; Schmidt-Preuss, U; Passarge, E

    1981-01-01

    The effect on the rate of sister chromatid exchanges (SCEs) in Bloom syndrome fibroblasts by cocultivation with Fanconi anemia and xeroderma pigmentosum fibroblasts and with Bloom syndrome heterozygotes was studied. Cells of Fanconi anemia and xeroderma origin reduced the rate of SCEs in Bloom cells by about 45%-50%, just as control cells do. In contrast, heterozygous Bloom cells reduced the rate of SCEs by only 16%-28%. In absolute figures, Fanconi cells reduced the mean rate of SCE in Bloom...

  18. Photomedicine

    Energy Technology Data Exchange (ETDEWEB)

    Ben-Hur, E.; Rosenthal, I.

    1987-01-01

    Volume I of this book contains: Basics of Photochemistry; Molecular and Cellular Photobiology; Acute Cutaneous Effects of Light; The Homology of UV-Mediated Cutaneous Carcinogenic and Aging Processes; Effects of Sunlight on the Eye; Photoimmunology; Photosensitivity to Drugs; and Porphyrias. Volume II contains: The Idiopathic Photodermatoses; Xeroderma Pigmentosum; Beta-Carotene Therapy for Erythropoietic Protoporphyria and Other Photosensitivity Diseases; Photochemotherapy of Psoriasis Using the Furocoumrains; Photochemotherapy of Various Skin Disorders; Photodynamic Therapy of Cancer; and Photoimmunotherapy. Volume III of this book contains: The Phthalocyanines: Sensitizers with Potential for Photodynamic Therapy of Cancer; Lasers in Surgery and Medicine; Lasers in Opthalmology; The Carbon Dioxide Laser in Orthopedic Surgery. Diagnostic Uses of Light; Sources and Measurements of Optical Radiation for Medical Applications; and Safety Measures in Optical Radiation Treatment.

  19. Bipolar disorder

    Science.gov (United States)

    Manic depression; Bipolar affective disorder; Mood disorder - bipolar; Manic depressive disorder ... Fatigue or lack of energy Feelings of worthlessness, hopelessness, or guilt Loss of pleasure in activities once ...

  20. Conversion Disorder

    Science.gov (United States)

    ... Recent significant stress or emotional trauma Being female — women are much more likely to develop conversion disorder Having a mental health condition, such as mood or anxiety disorders, dissociative disorder or certain personality disorders Having ...

  1. Conduct disorder

    Science.gov (United States)

    ... Conduct disorder is often linked to attention-deficit disorder . Conduct disorder also can be an early sign of ... child or teen has a history of conduct disorder behaviors. A physical examination and blood tests can help ...

  2. Psychotic Disorders

    Science.gov (United States)

    Psychotic disorders are severe mental disorders that cause abnormal thinking and perceptions. People with psychoses lose touch ... is not there. Schizophrenia is one type of psychotic disorder. People with bipolar disorder may also have ...

  3. Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging

    NARCIS (Netherlands)

    Y. Kamenisch (York); M.I. Fousteri (Maria); J. Knoch (Jennifer); A.K. Von Thaler (Anna Katherina); B. Fehrenbacher (Birgit); H. Kato (Hiroki); T. Becker (Tim); M.E.T. Dollé (Martijn); R. Kuiper (Ruud); M. Majora (Marc); M. Schaller (Martin); G.T.J. van der Horst (Gijsbertus); H. van Steeg (Harry); M. Röcken (Martin); D. Rapaport (Doron); J. Krutmann (Jean); L.H.F. Mullenders (Leon); M. Berneburg (Mark)

    2010-01-01

    textabstractDefects in the DNA repair mechanism nucleotide excision repair (NER) may lead to tumors in xeroderma pigmentosum (XP) or to premature aging with loss of subcutaneous fat in Cockayne syndrome (CS). Mutations of mitochondrial (mt)DNA play a role in aging, but a link between the

  4. XRCC1 and XPD DNA repair gene polymorphisms: a potential risk factor for glaucoma in the Pakistani population

    NARCIS (Netherlands)

    Yousaf, S.; Khan, M.I.; Micheal, S.; Akhtar, F.; Ali, S.H.; Riaz, M.; Ali, M.; Lall, P.; Waheed, N.K.; Hollander, A.I. den; Ahmed, A.; Qamar, R.

    2011-01-01

    PURPOSE: The present study was designed to determine the association of polymorphisms of the DNA repair genes X-ray cross-complementing group 1 (XRCC1) (c.1316G>A [rs25487]) and xeroderma pigmentosum complementation group D (XPD) (c.2298A>C [rs13181]) with primary open-angle glaucoma (POAG) an

  5. Rare Malignancies in Eastern India, Socio-Economic Impact

    OpenAIRE

    Surendra Senapati; Diptirani Samanta; Saumyaranjan Mishra; Chaitali Bose

    2016-01-01

    The etiology of cancer is multifactorial. Various factors, including physical carcinogens, chemicals and viral carcinogens affect patients with known predisposing factors who subsequently develop malignancies. Here is a retrospective study of 18 patients who developed rare malignancies in clinical situations like xeroderma pigmentosum, tuberous sclerosis, neurofibromatosis, hereditary multiple exostosis, second malignancies due to radiotherapy and chronic irritation. The predisposing factors ...

  6. The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor.

    NARCIS (Netherlands)

    L. Schaeffer; V. Moncollin; R. Roy (Richard); A. Staub; M. Mezzina; A. Sarasin; G. Weeda (Geert); J.H.J. Hoeijmakers (Jan); J-M. Egly (Jean-Marc)

    1994-01-01

    textabstractERCC2 is involved in the DNA repair syndrome xeroderma pigmentosum (XP) group D and was found to copurify with the RNA polymerase II (B) transcription factor BTF2/TFIIH that possesses a bidirectional helicase activity. Antibodies directed towards the 89 kDa (ERCC3) or the p62 subunit of

  7. Molecular genetic analysis of 16 XP-C patients from Germany : environmental factors predominately contribute to phenotype variations

    NARCIS (Netherlands)

    Schaefer, Annika; Hofmann, Lars; Gratchev, Alexei; Laspe, Petra; Schubert, Steffen; Schuerer, Anke; Ohlenbusch, Andreas; Tzvetkov, Mladen; Hallermann, Christian; Reichrath, Joerg; Schoen, Michael P.; Emmert, Steffen

    Patients belonging to xeroderma pigmentosum (XP) complementation group C comprise one-third of all XP patients. Only four major reports compiled larger groups of XP-C patients from southern Europe (12 pts), North America (16 pts) and Africa (14 and 56 pts) as well as their genetic background (46 XPC

  8. XPC and human homologs of RAD23: intracellular localization and relationship to other nucleotide excision repair complexes.

    NARCIS (Netherlands)

    P.J. van der Spek (Peter); A.P.M. Eker (André); S. Rademakers (Suzanne); C.E. Visser (Cécile); K. Sugasawa (Kaoru); C. Masutani (Chikahide); F. Hanaoka (Fumio); D. Bootsma (Dirk); J.H.J. Hoeijmakers (Jan)

    1996-01-01

    textabstractThe xeroderma pigmentosum syndrome complementation group C (XP-C) is due to a defect in the global genome repair subpathway of nucleotide excision repair (NER). The XPC protein is complexed with HHR23B, one of the two human homologs of the yeast NER protein, RAD23 (Masutani at al. (1994)

  9. Interaction of hHR23 with S5a. The ubiquitin-like domain of hHR23 mediates interaction with S5a subunit of 26 S proteasome

    NARCIS (Netherlands)

    H. Hiyama; M. Yokoi; C. Masutani; K. Sugasawa (Kaoru); T. Maekawa; K. Tanaka (Kiyoji); F. Hanaoka (Fumio); J.H.J. Hoeijmakers (Jan)

    1999-01-01

    textabstracthHR23B is one of two human homologs of the Saccharomyces cerevisiae nucleotide excision repair (NER) gene product RAD23 and a component of a protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-C) cell extracts in vitro. Alth

  10. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio- skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure

    NARCIS (Netherlands)

    N.G.J. Jaspers (Nicolaas); A. Raams (Anja); M.C. Silengo; N. Wijgers (Nils); L.J. Niedernhofer (Laura); A.R. Robinson (Andria Rasile); G. Giglia-Mari (Giuseppina); D. Hoogstraten (Deborah); W.J. Kleijer (Wim); J.H.J. Hoeijmakers (Jan); W. Vermeulen (Wim)

    2007-01-01

    textabstractNucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two

  11. GenBank blastx search result: AK060447 [KOME

    Lifescience Database Archive (English)

    Full Text Available AK060447 001-011-F08 AY163769.1 Homo sapiens excision repair cross-complementing ro...dent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3) gene, complete cds.|PRI PRI 1e-155 +1 ...

  12. GenBank blastx search result: AK060447 [KOME

    Lifescience Database Archive (English)

    Full Text Available AK060447 001-011-F08 BC008820.2 Homo sapiens excision repair cross-complementing ro...dent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing), mRNA (cDNA clone MGC:10371 IMAGE:3958781), complete cds.|PRI PRI 1e-155 +1 ...

  13. DNA repair in human cells: from genetic complementation to isolation of genes.

    NARCIS (Netherlands)

    D. Bootsma (Dirk); A. Westerveld (Andries); J.H.J. Hoeijmakers (Jan)

    1988-01-01

    textabstractThe genetic disease xeroderma pigmentosum (XP) demonstrates the association between defective repair of DNA lesions and cancer. Complementation analysis performed on XP cell strains and on repair deficient rodent cell lines has revealed that at least nine and possibly more than 13 genes

  14. DNA synthesis in ataxia telangiectasia

    NARCIS (Netherlands)

    N.G.J. Jaspers (Nicolaas)

    1985-01-01

    textabstractAfter the discovery that cultured cells from AT patients are hypersensitive to ionizing radiation the suggestion was made that AT-could be the 1 X-ray-analogue 1 of xeroderma pigmentosum. The latter syndrome (XP) is characterized by hypersensitivity to short-wave UV-radiation, caused by

  15. Erythropoietic defect associated with reduced cell proliferation in mice lacking the 26S proteasome shuttling factor Rad23b

    NARCIS (Netherlands)

    S. Bergink (Steven); A.F. Theil (Arjan); W. Toussaint (Wendy); I.M. de Cuyper (Iris); D.I. Kulu (Divine); T. Clapes (Thomas); R. van der Linden (Reinier); J.A.A. Demmers (Jeroen); E.P. Mul (Eric); F.P. van Alphen (Floris); J.A. Marteijn (Jurgen); T. van Gent (Teus); A. Maas (Alex); C. Robin (Catherine); J.N.J. Philipsen (Sjaak); W. Vermeulen (Wim); J.R. Mitchell (James); L. Gutiérrez (Laura)

    2013-01-01

    textabstractRad23a and Rad23b proteins are linked to nucleotide excision DNA repair (NER) via association with the DNA damage recognition protein xeroderma pigmentosum group C (XPC) are and known to be implicated in protein turnover by the 26S proteasome. Rad23b-null mice are NER proficient, likely

  16. Erythropoietic Defect Associated with Reduced Cell Proliferation in Mice Lacking the 26S Proteasome Shuttling Factor Rad23b

    NARCIS (Netherlands)

    Bergink, Steven; Theil, Arjan F.; Toussaint, Wendy; De Cuyper, Iris M.; Kulu, Divine I.; Clapes, Thomas; van der Linden, Reinier; Demmers, Jeroen A.; Mul, Eric P.; van Alphen, Floris P.; Marteijn, Jurgen A.; van Gent, Teus; Maas, Alex; Robin, Catherine; Philipsen, Sjaak; Vermeulen, Wim; Mitchell, James R.; Gutierrez, Laura

    2013-01-01

    Rad23a and Rad23b proteins are linked to nucleotide excision DNA repair (NER) via association with the DNA damage recognition protein xeroderma pigmentosum group C (XPC) are and known to be implicated in protein turnover by the 26S proteasome. Rad23b-null mice are NER proficient, likely due to the r

  17. DNA repair in human cells: from genetic complementation to isolation of genes.

    NARCIS (Netherlands)

    D. Bootsma (Dirk); A. Westerveld (Andries); J.H.J. Hoeijmakers (Jan)

    1988-01-01

    textabstractThe genetic disease xeroderma pigmentosum (XP) demonstrates the association between defective repair of DNA lesions and cancer. Complementation analysis performed on XP cell strains and on repair deficient rodent cell lines has revealed that at least nine and possibly more than 13 genes

  18. UV-stimulation of DNA-mediated transformation of human cells.

    NARCIS (Netherlands)

    M. van Duin (Mark); A. Westerveld (Andries); J.H.J. Hoeijmakers (Jan)

    1985-01-01

    textabstractIrradiation of dominant marker DNA with UV light (150 to 1,000 J/m2) was found to stimulate the transformation of human cells by this marker from two- to more than fourfold. This phenomenon is also displayed by xeroderma pigmentosum cells (complementation groups A and F), which are defic

  19. Protein: FBA4 [TP Atlas

    Lifescience Database Archive (English)

    Full Text Available tion factor complex helicase XPB subunit Basic transcription factor 2 89 kDa subunit, DNA excision repair prot...ein ERCC-3, DNA repair protein complementing XP-B cells, TFIIH basal transcription factor complex 89 kDa s...ubunit, Xeroderma pigmentosum group B-complementing protein 9606 Homo sapiens P19447 2071 2071 P19447 ...

  20. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio- skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure

    NARCIS (Netherlands)

    N.G.J. Jaspers (Nicolaas); A. Raams (Anja); M.C. Silengo; N. Wijgers (Nils); L.J. Niedernhofer (Laura); A.R. Robinson (Andria Rasile); G. Giglia-Mari (Giuseppina); D. Hoogstraten (Deborah); W.J. Kleijer (Wim); J.H.J. Hoeijmakers (Jan); W. Vermeulen (Wim)

    2007-01-01

    textabstractNucleotide excision repair (NER) is a genome caretaker mechanism responsible for removing helix-distorting DNA lesions, most notably ultraviolet photodimers. Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two proge

  1. Schizoaffective disorder

    Science.gov (United States)

    ... cause of schizoaffective disorder is unknown. Changes in genes and chemicals in the brain (neurotransmitters) may play a role. Schizoaffective disorder is thought to be less common than schizophrenia and mood disorders. Women may have the condition ...

  2. Genetic Disorders

    Science.gov (United States)

    ... This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from ... during your lifetime. There are three types of genetic disorders: Single-gene disorders, where a mutation affects ...

  3. Cockayne Syndrome in Adults: Review With Clinical and Pathologic Study of a New Case

    Science.gov (United States)

    Rapin, Isabelle; Weidenheim, Karen; Lindenbaum, Yelena; Rosenbaum, Pearl; Merchant, Saumil N.; Krishna, Sindu; Dickson, Dennis W.

    2009-01-01

    Cockayne syndrome and xeroderma pigmentosum–Cockayne syndrome complex are rare autosomal recessive disorders with poorly understood biology. They are characterized by profound postnatal brain and somatic growth failure and by degeneration of multiple tissues resulting in cachexia, dementia, and premature aging. They result in premature death, usually in childhood, exceptionally in adults. This study compares the clinical course and pathology of a man with Cockayne syndrome group A who died at age 31½ years with 15 adequately documented other adults with Cockayne syndrome and 5 with xeroderma pigmentosum–Cockayne syndrome complex. Slowing of head and somatic growth was apparent before age 2 years, mental retardation and slowly progressive spasticity at 4 years, ataxia and hearing loss at 9 years, visual impairment at 14 years, typical Cockayne facies at 17 years, and cachexia and dementia in his twenties, with a retained outgoing personality. He experienced several transient right and left hemipareses and two episodes of status epilepticus following falls. Neuropathology disclosed profound microencephaly, bilateral old subdural hematomas, white-matter atrophy, tigroid leukodystrophy with string vessels, oligodendrocyte proliferation, bizarre reactive astrocytes, multifocal dystrophic calcification that was most marked in the basal ganglia, advanced atherosclerosis, mixed demyelinating and axonal neuropathy, and neurogenic muscular atrophy. Cellular degeneration of the organ of Corti, spiral and vestibular ganglia, and all chambers of the eye was severe. Rarely, and for unexplained reasons, in some patients with Cockayne syndrome the course is slower than usual, resulting in survival into adulthood. The profound dwarfing, failure of brain growth, cachexia, selectivity of tissue degeneration, and poor correlation between genotypes and phenotypes are not understood. Deficient repair of DNA can increase vulnerability to oxidative stress and play a role in the

  4. Anxiety disorders.

    Science.gov (United States)

    Craske, Michelle G; Stein, Murray B; Eley, Thalia C; Milad, Mohammed R; Holmes, Andrew; Rapee, Ronald M; Wittchen, Hans-Ulrich

    2017-05-04

    Anxiety disorders constitute the largest group of mental disorders in most western societies and are a leading cause of disability. The essential features of anxiety disorders are excessive and enduring fear, anxiety or avoidance of perceived threats, and can also include panic attacks. Although the neurobiology of individual anxiety disorders is largely unknown, some generalizations have been identified for most disorders, such as alterations in the limbic system, dysfunction of the hypothalamic-pituitary-adrenal axis and genetic factors. In addition, general risk factors for anxiety disorders include female sex and a family history of anxiety, although disorder-specific risk factors have also been identified. The diagnostic criteria for anxiety disorders varies for the individual disorders, but are generally similar across the two most common classification systems: the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) and the International Classification of Diseases, Tenth Edition (ICD-10). Despite their public health significance, the vast majority of anxiety disorders remain undetected and untreated by health care systems, even in economically advanced countries. If untreated, these disorders are usually chronic with waxing and waning symptoms. Impairments associated with anxiety disorders range from limitations in role functioning to severe disabilities, such as the patient being unable to leave their home.

  5. Growth Disorders

    Science.gov (United States)

    ... because their parents are. But some children have growth disorders. Growth disorders are problems that prevent children from developing ... or other features. Very slow or very fast growth can sometimes signal a gland problem or disease. ...

  6. Metabolic Disorders

    Science.gov (United States)

    ... as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body ... that produce the energy. You can develop a metabolic disorder when some organs, such as your liver or ...

  7. Panic Disorder

    Science.gov (United States)

    ... This is the basis for a condition called agoraphobia. A person who has agoraphobia finds it difficult to leave home (or another ... Disorders Education Program Last Updated: April 2014 Tags: agoraphobia, Alprazolam, antidepressants, anxiety disorders, behavior therapy, clonazepam, klonopin, ...

  8. Anxiety Disorders

    Science.gov (United States)

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Anxiety Disorders KidsHealth > For Teens > Anxiety Disorders A A ... Do en español Trastornos de ansiedad What Is Anxiety? Liam had always looked out for his younger ...

  9. Bipolar Disorder

    Science.gov (United States)

    Bipolar disorder is a serious mental illness. People who have it go through unusual mood changes. They ... The down feeling is depression. The causes of bipolar disorder aren't always clear. It runs in ...

  10. Personality Disorders

    Science.gov (United States)

    Personality disorders are a group of mental illnesses. They involve long-term patterns of thoughts and behaviors ... serious problems with relationships and work. People with personality disorders have trouble dealing with everyday stresses and ...

  11. Movement Disorders

    Science.gov (United States)

    ... t want them to. If you have a movement disorder, you experience these kinds of impaired movement. Dyskinesia ... movement and is a common symptom of many movement disorders. Tremors are a type of dyskinesia. Nerve diseases ...

  12. Menstrual Disorders

    Science.gov (United States)

    ... Issues Listen Español Text Size Email Print Share Menstrual Disorders in Teens Page Content Article Body Within ... test Measurement of gonadotropins, prolactin and androgens How Menstrual Disorders are treated with Drug Therapy: After exclusion ...

  13. Conversion disorder

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000954.htm Conversion disorder To use the sharing features on this page, please enable JavaScript. Conversion disorder is a mental condition in which a person ...

  14. Eating Disorders

    Science.gov (United States)

    ... Binge-eating, which is out-of-control eating Women are more likely than men to have eating disorders. They usually start in the teenage years and often occur along with depression, anxiety disorders, and substance abuse. Eating disorders can lead ...

  15. Bipolar Disorder.

    Science.gov (United States)

    Spearing, Melissa

    Bipolar disorder, a brain disorder that causes unusual shifts in a person's mood, affects approximately one percent of the population. It commonly occurs in late adolescence and is often unrecognized. The diagnosis of bipolar disorder is made on the basis of symptoms, course of illness, and when possible, family history. Thoughts of suicide are…

  16. [Eating disorders].

    Science.gov (United States)

    Miyake, Yoshie; Okamoto, Yuri; Jinnin, Ran; Shishida, Kazuhiro; Okamoto, Yasumasa

    2015-02-01

    Eating disorders are characterized by aberrant patterns of eating behavior, including such symptoms as extreme restriction of food intake or binge eating, and severe disturbances in the perception of body shape and weight, as well as a drive for thinness and obsessive fears of becoming fat. Eating disorder is an important cause for physical and psychosocial morbidity in young women. Patients with eating disorders have a deficit in the cognitive process and functional abnormalities in the brain system. Recently, brain-imaging techniques have been used to identify specific brain areas that function abnormally in patients with eating disorders. We have discussed the clinical and cognitive aspects of eating disorders and summarized neuroimaging studies of eating disorders.

  17. Micturition disorders.

    Science.gov (United States)

    Byron, Julie K

    2015-07-01

    Evaluation of dogs and cats with micturition disorders can be challenging. It is important to determine the duration, timing, and frequency of the disorder, as well as assessing for any additional medical problems, such as neurologic or orthopedic disease, that may be affecting micturition. Observation of the patient during voiding can be particularly helpful in determining the type of disorder. Treatment of micturition disorders is varied and outcome depends on an accurate diagnosis. Patient response is also highly variable, even with appropriate therapy, and owners' expectations must be set accordingly.

  18. White Blood Cell Disorders

    Science.gov (United States)

    ... Fundamentals Heart and Blood Vessel Disorders Hormonal and Metabolic Disorders Immune Disorders Infections Injuries and Poisoning Kidney and ... Fundamentals Heart and Blood Vessel Disorders Hormonal and Metabolic Disorders Immune Disorders Infections Injuries and Poisoning Kidney and ...

  19. Overview of Movement Disorders

    Science.gov (United States)

    ... Fundamentals Heart and Blood Vessel Disorders Hormonal and Metabolic Disorders Immune Disorders Infections Injuries and Poisoning Kidney and ... Fundamentals Heart and Blood Vessel Disorders Hormonal and Metabolic Disorders Immune Disorders Infections Injuries and Poisoning Kidney and ...

  20. Borderline Personality Disorder

    Science.gov (United States)

    ... Among U.S. Adults Any Disorder Among Children Any Anxiety Disorder Among Adults Any Anxiety Disorder Among Children Agoraphobia Among Adults Agoraphobia Among Children Generalized Anxiety Disorder Among Adults Generalized Anxiety Disorder Among Children Obsessive Compulsive Disorder ...

  1. Panic Disorder among Adults

    Science.gov (United States)

    ... Among U.S. Adults Any Disorder Among Children Any Anxiety Disorder Among Adults Any Anxiety Disorder Among Children Agoraphobia Among Adults Agoraphobia Among Children Generalized Anxiety Disorder Among Adults Generalized Anxiety Disorder Among Children Obsessive Compulsive Disorder ...

  2. Cyclothymic disorder

    Science.gov (United States)

    ... swings (these are less severe than in bipolar disorder or major depression) Ongoing symptoms, with no more than 2 symptom-free months in a row Exams and Tests ... Treatments for this disorder include mood-stabilizing medicine, antidepressants, talk therapy, or ...

  3. Anxiety Disorders

    Science.gov (United States)

    Klein, Rachel G.

    2009-01-01

    Because of their high prevalence and their negative long-term consequences, child anxiety disorders have become an important focus of interest. Whether pathological anxiety and normal fear are similar processes continues to be controversial. Comparative studies of child anxiety disorders are scarce, but there is some support for the current…

  4. Anxiety Disorders

    Science.gov (United States)

    Klein, Rachel G.

    2009-01-01

    Because of their high prevalence and their negative long-term consequences, child anxiety disorders have become an important focus of interest. Whether pathological anxiety and normal fear are similar processes continues to be controversial. Comparative studies of child anxiety disorders are scarce, but there is some support for the current…

  5. Conduct disorders

    NARCIS (Netherlands)

    Buitelaar, J.K.; Smeets, K.C.; Herpers, P.; Scheepers, F.; Glennon, J.; Rommelse, N.N.J.

    2013-01-01

    Conduct disorder (CD) is a frequently occurring psychiatric disorder characterized by a persistent pattern of aggressive and non-aggressive rule breaking antisocial behaviours that lead to considerable burden for the patients themselves, their family and society. This review paper updates diagnostic

  6. Personality disorders

    NARCIS (Netherlands)

    van den Bosch, L.M.C.; Verheul, R.; Verster, J.C.; Brady, K.; Galanter, M.; Conrod, P.

    2012-01-01

    Subject of this chapter is the often found combination of personality disorders and ­substance abuse disorders. The serious nature of this comorbidity is shown through the discussion of prevalence and epidemiological data. Literature shows that the comorbidity, hampering the diagnostic process, is s

  7. Anxiety Disorders: Support Groups

    Science.gov (United States)

    ... Disorder Specific Phobias Obsessive-Compulsive Disorder (OCD) Posttraumatic Stress Disorder (PTSD) Depression Bipolar Disorder Suicide and Prevention Stress Related Illnesses Myth-Conceptions Find ...

  8. Screening for Panic Disorder

    Science.gov (United States)

    ... Disorder Specific Phobias Obsessive-Compulsive Disorder (OCD) Posttraumatic Stress Disorder (PTSD) Depression Bipolar Disorder Suicide and Prevention Stress Related Illnesses Myth-Conceptions Find ...

  9. Treatment for Anxiety Disorders

    Science.gov (United States)

    ... Disorder Specific Phobias Obsessive-Compulsive Disorder (OCD) Posttraumatic Stress Disorder (PTSD) Depression Bipolar Disorder Suicide and Prevention Stress Related Illnesses Myth-Conceptions Find ...

  10. [Affective disorders and eating disorders].

    Science.gov (United States)

    Fakra, Eric; Belzeaux, R; Azorin, J M; Adida, M

    2014-12-01

    Epidemiologic studies show a frequent co-occurence of affective and eating disorders. The incidence of one disorder in patients suffering from the other disorder is well over the incidence in the general population. Several causes could explain this increased comorbidity. First, the iatrogenic origin is detailed. Indeed, psychotropic drugs, and particularly mood stabilizers, often lead to modification in eating behaviors, generally inducing weight gain. These drugs can increase desire for food, reduce baseline metabolism or decrease motor activity. Also, affective and eating disorders share several characteristics in semiology. These similarities can not only obscure the differential diagnosis but may also attest of conjoint pathophysiological bases in the two conditions. However, genetic and biological findings so far are too sparse to corroborate this last hypothesis. Nonetheless, it is noteworthy that comorbidity of affective and eating disorders worsens patients'prognosis and is associated with more severe forms of affective disorders characterized by an earlier age of onset in the disease, higher number of mood episodes and a higher suicidality. Lastly, psychotropic drugs used in affective disorders (lithium, antiepileptic mood stabilizers, atypical antipsychotics, antidepressants) are reviewed in order to weigh their efficacy in eating disorders. This could help establish the best therapeutic option when confronted to comorbidity. Copyright © 2014 L’Encéphale. Published by Elsevier Masson SAS.. All rights reserved.

  11. [Dissociative disorders and affective disorders].

    Science.gov (United States)

    Montant, J; Adida, M; Belzeaux, R; Cermolacce, M; Pringuey, D; Da Fonseca, D; Azorin, J-M

    2014-12-01

    The phenomenology of dissociative disorders may be complex and sometimes confusing. We describe here two cases who were initially misdiagnosed. The first case concerned a 61 year-old woman, who was initially diagnosed as an isolated dissociative fugue and was actually suffering from severe major depressive episode. The second case concerned a 55 year-old man, who was suffering from type I bipolar disorder and polyvascular disease, and was initially diagnosed as dissociative fugue in a mooddestabilization context, while it was finally a stroke. Yet dissociative disorders as affective disorder comorbidity are relatively unknown. We made a review on this topic. Dissociative disorders are often studied through psycho-trauma issues. Litterature is rare on affective illness comorbid with dissociative disorders, but highlight the link between bipolar and dissociative disorders. The later comorbidity often refers to an early onset subtype with also comorbid panic and depersonalization-derealization disorder. Besides, unipolar patients suffering from dissociative symptoms have more often cyclothymic affective temperament. Despite the limits of such studies dissociative symptoms-BD association seems to correspond to a clinical reality and further works on this topic may be warranted. Copyright © 2014 L’Encéphale. Published by Elsevier Masson SAS.. All rights reserved.

  12. Eating disorders.

    Science.gov (United States)

    Treasure, Janet; Claudino, Angélica M; Zucker, Nancy

    2010-02-13

    This Seminar adds to the previous Lancet Seminar about eating disorders, published in 2003, with an emphasis on the biological contributions to illness onset and maintenance. The diagnostic criteria are in the process of review, and the probable four new categories are: anorexia nervosa, bulimia nervosa, binge eating disorder, and eating disorder not otherwise specified. These categories will also be broader than they were previously, which will affect the population prevalence; the present lifetime prevalence of all eating disorders is about 5%. Eating disorders can be associated with profound and protracted physical and psychosocial morbidity. The causal factors underpinning eating disorders have been clarified by understanding about the central control of appetite. Cultural, social, and interpersonal elements can trigger onset, and changes in neural networks can sustain the illness. Overall, apart from studies reporting pharmacological treatments for binge eating disorder, advances in treatment for adults have been scarce, other than interest in new forms of treatment delivery. Copyright 2010 Elsevier Ltd. All rights reserved.

  13. [Delusional disorders].

    Science.gov (United States)

    Garnier, Marion; Llorca, Pierre-Michel

    2015-02-01

    Delusional disorders are divided in French nosography into three clinical disease entities: paranoid delusions, psychose hallucinatoire chronique, and paraphrenia. Their common characteristics are a late start, a chronic evolution, no cognitive impairment and no dissociation. Delusio- nal syndrome is often at the forefront with a predominant mechanism characterizing each disorder (interpretation for paranoid delusions, hallucination for psychose hallucinatoire chronique and imagination for paraphrenia). Although these disorders are less sensitive to the medication than schizophrenia, care is based on second generation antipsychotic treatment, in association with psychotherapy and social care. The aim of treatment is to alleviate delusion intensity to improve global functioning and to prevent violent incidents or suicide attempt.

  14. Blood Disorders

    Science.gov (United States)

    ... people with blood disorders. Magnitude of the Problem Complications from deep vein thrombosis (DVT) kill more people each year than breast cancer, motor vehicle accidents, and HIV combined. Sickle cell trait ...

  15. Parathyroid Disorders

    Science.gov (United States)

    ... much phosphorous. Causes include injury to the glands, endocrine disorders, or genetic conditions. Treatment is aimed at restoring the balance of calcium and phosphorous. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

  16. Genetic Disorders

    Science.gov (United States)

    ... 21 (Down syndrome) . Other trisomies include trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) . Monosomy is another ... which there is an extra chromosome. Trisomy 13 (Patau Syndrome): A chromosomal disorder that causes serious problems with ...

  17. Schizoaffective Disorder

    Science.gov (United States)

    ... depression or mania. The two types of schizoaffective disorder — both of which include some symptoms of schizophrenia — are: Bipolar type , which includes episodes of mania and sometimes major depression Depressive type , which includes only major depressive episodes ...

  18. Bleeding disorders

    Science.gov (United States)

    ... can occur when certain factors are low or missing. Bleeding problems can range from mild to severe. Some bleeding disorders are present at birth and are passed through families (inherited). Others develop from: Illnesses such as vitamin ...

  19. Panic disorder

    Science.gov (United States)

    ... Recalling a past attack may trigger panic attacks. Exams and Tests Many people with panic disorder first ... of exercise Getting enough sleep Reducing or avoiding caffeine, certain cold medicines, and stimulants Support Groups You ...

  20. Blood Disorders

    Science.gov (United States)

    ... risk for blood clots? Do You Know About Thalassemia? Language: English (US) Español (Spanish) Recommend on ... become hard, sticky, and shaped like a C. Thalassemia Red blood cell disorder that affects hemoglobin. Von ...

  1. TMJ Disorders

    Science.gov (United States)

    ... that the conditions fall into three main categories: Myofascial pain involves discomfort or pain in the muscles ... exist with TMJ disorders, such as chronic fatigue syndrome, sleep disturbances or fibromyalgia, a painful condition that ...

  2. Phonological disorder

    Science.gov (United States)

    ... and language problems. Other risk factors may include poverty and coming from a large family. Phonological disorders ... In a child developing normal speech patterns: By age 3, at least one half of what a child says should be ...

  3. Muscle disorder

    Science.gov (United States)

    Myopathic changes; Myopathy; Muscle problem ... Blood tests sometimes show abnormally high muscle enzymes. If a muscle disorder might also affect other family members, genetic testing may be done. When someone has symptoms and signs ...

  4. Muscle Disorders

    Science.gov (United States)

    Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even ...

  5. Taste Disorders

    Science.gov (United States)

    ... may help scientists develop drugs targeting the gut taste receptors to treat obesity and diabetes. Where can I ... Smell Smell Disorders News Unraveling the enigma of salty taste detection: New findings could help identify successful ...

  6. Sleep Disorders

    Science.gov (United States)

    ... the day, even if you have had enough sleep? You might have a sleep disorder. The most common kinds are Insomnia - a hard time falling or staying asleep Sleep apnea - breathing interruptions during sleep Restless legs syndrome - ...

  7. Eating Disorders

    Science.gov (United States)

    ... This kind of research can help guide the development of new means of diagnosis and treatment of eating disorders. Treatments and Therapies Adequate nutrition, reducing excessive exercise, and stopping purging behaviors are the foundations of treatment. Treatment plans are ...

  8. Personality disorder

    DEFF Research Database (Denmark)

    Tyrer, Peter; Mulder, Roger; Crawford, Mike

    2010-01-01

    Personality disorder is now being accepted as an important condition in mainstream psychiatry across the world. Although it often remains unrecognized in ordinary practice, research studies have shown it is common, creates considerable morbidity, is associated with high costs to services and to s...... increasing evidence that some treatments, mainly psychological, are of value in this group of disorders. What is now needed is a new classification that is of greater value to clinicians, and the WPA Section on Personality Disorders is currently undertaking this task.......Personality disorder is now being accepted as an important condition in mainstream psychiatry across the world. Although it often remains unrecognized in ordinary practice, research studies have shown it is common, creates considerable morbidity, is associated with high costs to services...... and to society, and interferes, usually negatively, with progress in the treatment of other mental disorders. We now have evidence that personality disorder, as currently classified, affects around 6% of the world population, and the differences between countries show no consistent variation. We are also getting...

  9. Enhanced DNA repair of cyclobutane pyrimidine dimers changes the biological response to UV-B radiation

    Energy Technology Data Exchange (ETDEWEB)

    Yarosh, Daniel B

    2002-11-30

    The goal of DNA repair enzyme therapy is the same as that for gene therapy: to rescue a defective proteome/genome by introducing a substitute protein/DNA. The danger of inadequate DNA repair is highlighted in the genetic disease xeroderma pigmentosum. These patients are hypersensitive to sunlight and develop multiple cutaneous neoplasms very early in life. The bacterial DNA repair enzyme T4 endonuclease V was shown over 25 years ago to be capable of reversing the defective repair in xeroderma pigmentosum cells. This enzyme, packaged in an engineered delivery vehicle, has been shown to traverse the stratum corneum, reach the nuclei of living cells of the skin, and enhance the repair of UV-induced cyclobutane pyrimidine dimers (CPD). In such a system, changes in DNA repair, mutagenesis, and cell signaling can be studied without manipulation of the genome.

  10. Bipolar Disorder (For Teens)

    Science.gov (United States)

    ... Loss Surgery? A Week of Healthy Breakfasts Shyness Bipolar Disorder KidsHealth > For Teens > Bipolar Disorder A A ... Bipolar Disorder en español Trastorno bipolar What Is Bipolar Disorder? Bipolar disorders are one of several medical ...

  11. Homozygous Wildtype of XPD K751Q Polymorphism Is Associated with Increased Risk of Nasopharyngeal Carcinoma in Malaysian Population

    OpenAIRE

    Munn-Sann Lye; Shaneeta Visuvanathan; Pei-Pei Chong; Yoke-Yeow Yap; Chin-Chye Lim; Eng-Zhuan Ban

    2015-01-01

    The xeroderma pigmentosum group D (XPD) gene encodes a DNA helicase, an important component in transcription factor IIH (TFIIH) complex. XPD helicase plays a pivotal role in unwinding DNA at the damaged region during nucleotide excision repair (NER) mechanism. Dysfunctional XPD helicase protein from polymorphic diversity may contribute to increased risk of developing cancers. This study aims to determine the association between XPD K751Q polymorphism (rs13181) and risk of nasopharyngeal carci...

  12. GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.

    Science.gov (United States)

    Kuschal, Christiane; Botta, Elena; Orioli, Donata; Digiovanna, John J; Seneca, Sara; Keymolen, Kathelijn; Tamura, Deborah; Heller, Elizabeth; Khan, Sikandar G; Caligiuri, Giuseppina; Lanzafame, Manuela; Nardo, Tiziana; Ricotti, Roberta; Peverali, Fiorenzo A; Stephens, Robert; Zhao, Yongmei; Lehmann, Alan R; Baranello, Laura; Levens, David; Kraemer, Kenneth H; Stefanini, Miria

    2016-04-01

    The general transcription factor IIE (TFIIE) is essential for transcription initiation by RNA polymerase II (RNA pol II) via direct interaction with the basal transcription/DNA repair factor IIH (TFIIH). TFIIH harbors mutations in two rare genetic disorders, the cancer-prone xeroderma pigmentosum (XP) and the cancer-free, multisystem developmental disorder trichothiodystrophy (TTD). The phenotypic complexity resulting from mutations affecting TFIIH has been attributed to the nucleotide excision repair (NER) defect as well as to impaired transcription. Here, we report two unrelated children showing clinical features typical of TTD who harbor different homozygous missense mutations in GTF2E2 (c.448G>C [p.Ala150Pro] and c.559G>T [p.Asp187Tyr]) encoding the beta subunit of transcription factor IIE (TFIIEβ). Repair of ultraviolet-induced DNA damage was normal in the GTF2E2 mutated cells, indicating that TFIIE was not involved in NER. We found decreased protein levels of the two TFIIE subunits (TFIIEα and TFIIEβ) as well as decreased phosphorylation of TFIIEα in cells from both children. Interestingly, decreased phosphorylation of TFIIEα was also seen in TTD cells with mutations in ERCC2, which encodes the XPD subunit of TFIIH, but not in XP cells with ERCC2 mutations. Our findings support the theory that TTD is caused by transcriptional impairments that are distinct from the NER disorder XP.

  13. Energy and Technology Review: Unlocking the mysteries of DNA repair

    Energy Technology Data Exchange (ETDEWEB)

    Quirk, W.A.

    1993-04-01

    DNA, the genetic blueprint, has the remarkable property of encoding its own repair following diverse types of structural damage induced by external agents or normal metabolism. We are studying the interplay of DNA damaging agents, repair genes, and their protein products to decipher the complex biochemical pathways that mediate such repair. Our research focuses on repair processes that correct DNA damage produced by chemical mutagens and radiation, both ionizing and ultraviolet. The most important type of DNA repair in human cells is called excision repair. This multistep process removes damaged or inappropriate pieces of DNA -- often as a string of 29 nucleotides containing the damage -- and replaces them with intact ones. We have isolated, cloned, and mapped several human repair genes associated with the nucleotide excision repair pathway and involved in the repair of DNA damage after exposure to ultraviolet light or mutagens in cooked food. We have shown that a defect in one of these repair genes, ERCC2, is responsible for the repair deficiency in one of the groups of patients with the recessive genetic disorder xeroderma pigmentosum (XP group D). We are exploring ways to purify sufficient quantities (milligrams) of the protein products of these and other repair genes so that we can understand their functions. Our long-term goals are to link defective repair proteins to human DNA repair disorders that predispose to cancer, and to produce DNA-repair-deficient mice that can serve as models for the human disorders.

  14. GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

    Science.gov (United States)

    Kuschal, Christiane; Botta, Elena; Orioli, Donata; Digiovanna, John J.; Seneca, Sara; Keymolen, Kathelijn; Tamura, Deborah; Heller, Elizabeth; Khan, Sikandar G.; Caligiuri, Giuseppina; Lanzafame, Manuela; Nardo, Tiziana; Ricotti, Roberta; Peverali, Fiorenzo A.; Stephens, Robert; Zhao, Yongmei; Lehmann, Alan R.; Baranello, Laura; Levens, David; Kraemer, Kenneth H.; Stefanini, Miria

    2016-01-01

    The general transcription factor IIE (TFIIE) is essential for transcription initiation by RNA polymerase II (RNA pol II) via direct interaction with the basal transcription/DNA repair factor IIH (TFIIH). TFIIH harbors mutations in two rare genetic disorders, the cancer-prone xeroderma pigmentosum (XP) and the cancer-free, multisystem developmental disorder trichothiodystrophy (TTD). The phenotypic complexity resulting from mutations affecting TFIIH has been attributed to the nucleotide excision repair (NER) defect as well as to impaired transcription. Here, we report two unrelated children showing clinical features typical of TTD who harbor different homozygous missense mutations in GTF2E2 (c.448G>C [p.Ala150Pro] and c.559G>T [p.Asp187Tyr]) encoding the beta subunit of transcription factor IIE (TFIIEβ). Repair of ultraviolet-induced DNA damage was normal in the GTF2E2 mutated cells, indicating that TFIIE was not involved in NER. We found decreased protein levels of the two TFIIE subunits (TFIIEα and TFIIEβ) as well as decreased phosphorylation of TFIIEα in cells from both children. Interestingly, decreased phosphorylation of TFIIEα was also seen in TTD cells with mutations in ERCC2, which encodes the XPD subunit of TFIIH, but not in XP cells with ERCC2 mutations. Our findings support the theory that TTD is caused by transcriptional impairments that are distinct from the NER disorder XP. PMID:26996949

  15. Myoclonic Disorders

    Directory of Open Access Journals (Sweden)

    Olaf Eberhardt

    2017-08-01

    Full Text Available Few movement disorders seem to make a straightforward approach to diagnosis and treatment more difficult and frustrating than myoclonus, due to its plethora of causes and its variable classifications. Nevertheless, in recent years, exciting advances have been made in the elucidation of the pathophysiology and genetic basis of many disorders presenting with myoclonus. Here, we provide a review of all of the important types of myoclonus encountered in pediatric and adult neurology, with an emphasis on the recent developments that have led to a deeper understanding of this intriguing phenomenon. An up-to-date list of the genetic basis of all major myoclonic disorders is presented. Randomized studies are scarce in myoclonus therapy, but helpful pragmatic approaches at diagnosis as well as treatment have been recently suggested.

  16. Sleep Disorders

    DEFF Research Database (Denmark)

    Rahbek Kornum, Birgitte; Mignot, Emmanuel

    2014-01-01

    Mammalian sleep has evolved under the influence of the day-night cycle and in response to reproductive needs, food seeking, and predator avoidance, resulting in circadian (predictive) and homeostatic (reactive) regulation. A molecular clock characterized by transcription/translation feedback loops...... mediates circadian regulation of sleep. Misalignment with the rhythm of the sun results in circadian disorders and jet lag. The molecular basis of homeostatic sleep regulation is mostly unknown. A network of mutually inhibitory brain nuclei regulates sleep states and sleep-wake transitions. Abnormalities...... in these networks create sleep disorders, including rapid eye movement sleep behavior disorder, sleep walking, and narcolepsy. Physiological changes associated with sleep can be imbalanced, resulting in excess movements such as periodic leg movements during sleep or abnormal breathing in obstructive sleep apneas...

  17. Conversion Disorder

    Directory of Open Access Journals (Sweden)

    Yacov Rofé

    2013-11-01

    Full Text Available Conversion disorder remains a mystery that has only become more complicated with the decline of the scientific status of psychoanalysis (e.g., Piper, Lillevik, & Kritzer, 2008; Rofé, 2008 and recent neurological findings suggest that this behavior is controlled by biological mechanisms (van Beilen, Vogt, & Leenders, 2010. Moreover, existing theories have difficulty explaining the efficacy of various interventions, such as psychoanalysis, behavior therapy, drug therapy and religious therapy. This article reviews research and clinical evidence pertaining to both the development and treatment of conversion disorder and shows that this seemingly incompatible evidence can be integrated within a new theory, the Rational-Choice Theory of Neurosis (RCTN; Rofé, 2010. Despite the striking differences, RCTN continues Freud's framework of thinking as it employs a new concept of repression and replaces the unconscious with self-deception. Moreover, it incorporates Freud's idea, implicitly expressed in his theory, that neurotic disorders are, in fact, rational behaviors.

  18. Eating Disorders

    Directory of Open Access Journals (Sweden)

    Ahmad Farah

    2004-08-01

    Full Text Available Abstract Health Issue Eating disorders are an increasing public health problem among young women. Anorexia and bulimia may give rise to serious physical conditions such as hypothermia, hypotension, electrolyte imbalance, endocrine disorders, and kidney failure. Key Issues Eating disorders are primarily a problem among women. In Ontario in 1995, over 90% of reported hospitalized cases of anorexia and bulimia were women. In addition to eating disorders, preoccupation with weight, body image and self-concept disturbances, are more prevalent among women than men. Women with eating disorders are also at risk for long-term psychological and social problems, including depression, anxiety, substance abuse and suicide. For instance, in 2000, the prevalence of depression among women who were hospitalized with a diagnosis of anorexia (11.5% or bulimia (15.4 % was more than twice the rate of depression (5.7 % among the general population of Canadian women. The highest incidence of depression was found in women aged 25 to 39 years for both anorexia and bulimia. Data Gaps and Recommendations Hospitalization data are the most recent and accessible information available. However, this data captures only the more severe cases. It does not include the individuals with eating disorders who may visit clinics or family doctors, or use hospital outpatient services or no services at all. Currently, there is no process for collecting this information systematically across Canada; consequently, the number of cases obtained from hospitalization data is underestimated. Other limitations noted during the literature review include the overuse of clinical samples, lack of longitudinal data, appropriate comparison groups, large samples, and ethnic group analysis.

  19. [Headache disorders].

    Science.gov (United States)

    Takeshima, Takao; Kikui, Shoji

    2013-09-01

    Primary headache disorders such as migraine, tension-type headache, and cluster headache are prevalent and disabling neurological disorders. Although most headache disorders are largely treatable, they are under-recognized, under-diagnosed, and under-treated. Many headache sufferers in Japan do not receive appropriate and effective health care; hence, the illness, which should be relieved, persists and acts as an individual and societal burden. One of the barriers most responsible for this is poor awareness of the disorders. For lifting the burden, health care must be improved. Education is an essential way to resolve these issues at multiple levels. We have a Japanese version of the international headache classification and diagnostic criteria II (ICHD-II) and guidelines for the management of chronic headaches. Utilization of these resources is key for the improvement of headache management in our country. Not only neurologists, but also neurosurgeons and other medical specialists are participating in headache care in Japan. The Japanese Headache Society and the Japanese Society for Neurology should play major roles in health care service, education programs, as well as clinical and basic research for headache disorders. The road map for realizing our aim on headache treatment is as follows: (1) increase the number of units concerning headache in lectures for medical students, implement training programs for residents and neurologists, and offer continuous medical educations for physicians and neurologists; (2) secure more funding for headache research; (3) propagate medical care for headache in primary care settings and regional fundamental hospitals; (4) reform the health care system for headache and incentivize appropriate compensation for headache care in public health insurance; and (5) spread appropriate information on medical and socio-ethical issues related to headache for the sufferers and citizens. The authors expect that many neurologists have an

  20. WHERE MULTIFUNCTIONAL DNA REPAIR PROTEINS MEET: MAPPING THE INTERACTION DOMAINS BETWEEN XPG AND WRN

    Energy Technology Data Exchange (ETDEWEB)

    Rangaraj, K.; Cooper, P.K.; Trego, K.S.

    2009-01-01

    The rapid recognition and repair of DNA damage is essential for the maintenance of genomic integrity and cellular survival. Multiple complex and interconnected DNA damage responses exist within cells to preserve the human genome, and these repair pathways are carried out by a specifi c interplay of protein-protein interactions. Thus a failure in the coordination of these processes, perhaps brought about by a breakdown in any one multifunctional repair protein, can lead to genomic instability, developmental and immunological abnormalities, cancer and premature aging. This study demonstrates a novel interaction between two such repair proteins, Xeroderma pigmentosum group G protein (XPG) and Werner syndrome helicase (WRN), that are both highly pleiotropic and associated with inherited genetic disorders when mutated. XPG is a structure-specifi c endonuclease required for the repair of UV-damaged DNA by nucleotide excision repair (NER), and mutations in XPG result in the diseases Xeroderma pigmentosum (XP) and Cockayne syndrome (CS). A loss of XPG incision activity results in XP, whereas a loss of non-enzymatic function(s) of XPG causes CS. WRN is a multifunctional protein involved in double-strand break repair (DSBR), and consists of 3’–5’ DNA-dependent helicase, 3’–5’ exonuclease, and single-strand DNA annealing activities. Nonfunctional WRN protein leads to Werner syndrome, a premature aging disorder with increased cancer incidence. Far Western analysis was used to map the interacting domains between XPG and WRN by denaturing gel electrophoresis, which separated purifi ed full length and recombinant XPG and WRN deletion constructs, based primarily upon the length of each polypeptide. Specifi c interacting domains were visualized when probed with the secondary protein of interest which was then detected by traditional Western analysis using the antibody of the secondary protein. The interaction between XPG and WRN was mapped to the C-terminal region of

  1. Photoaggravated disorders.

    Science.gov (United States)

    O'Gorman, Susan M; Murphy, Gillian M

    2014-07-01

    Photoaggravated skin disorders are diseases that occur without UV radiation but are sometimes or frequently exacerbated by UV radiation. In conditions, such as lupus erythematosus, photoaggravation occurs in a majority of patients, whereas in conditions, such as psoriasis and atopic dermatitis, only a subset of patients demonstrate photoaggravation. Polymorphous light eruption is a common photodermatosis in all skin types, making it important to differentiate photoaggravation of an underlying disorder, such as lupus erythematosus, from superimposed polymorphous light eruption. Disease-specific treatments should be instituted where possible. A key component of management of photoaggravated conditions is photoprotection with behavioral change, UV-protective clothing, and broad-spectrum sunscreen.

  2. Eating disorders

    Science.gov (United States)

    The incidence of eating disorders is increasing, and health care professionals are faced with the difficult task of treating these refractory conditions. The first clinical description of anorexia nervosa (AN) was reported in 1694 and included symptoms such as decreased appetite, amenorrhea, food av...

  3. Eating disorders

    Directory of Open Access Journals (Sweden)

    Kontić Olga

    2012-01-01

    Full Text Available Eating disorders are considered chronic diseases of civilization. The most studied and well known are anorexia and bulimia nervosa. Anorexia is considered one of the most common psychiatric problems of girls in puberty and adolescence. Due to high mortality and morbidity as well as the increasing expansion of these diseases, it is clear why the amount of research on these diseases is growing worldwide. Eating disorders lead to numerous medical complications, mostly due to late diagnosis. The main characteristic of these diseases is changed behavior in the nutrition, either as an intentional restriction of food, i.e. extreme dieting, or overeating, i.e. binge eating. Extreme dieting, skipping meals, self-induced vomiting, excessive exercise, and misuse of laxatives and diuretics for the purpose of maintaining or reducing body weight are characteristic forms of compensatory behavior of patients with eating disorder. The most appropriate course of treatment is determined by evaluating the patient’s health condition, associated with behavior and eating habits, the experience of one’s own body, character traits of personality, and consequently the development and functioning of the individual. The final treatment plan is individual. Eating disorders are a growing medical problem even in this part of the world. Prevention should be planned in cooperation with different sectors so as to stop the epidemic of these diseases.

  4. Psychiatric Disorder

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    2009122 The comparative study on plasma interleukin and soluble interleukin receptors between first-episode schizophrenic patients and first-episode depressive patients. SHI Tianyuan(师天元),et al.2nd Affili Hosp, Xinxiang Med Univ, Xinxiang 453002.Chin J Nerv Ment Dis 2009;35(1):26-29. Objective To explore the pathogenesis of schizophrenia and depressive disorder at cellular level.

  5. Amnestic disorders

    NARCIS (Netherlands)

    Kessels, R.P.C.; Savage, G.

    2015-01-01

    Amnestic disorders may involve deficits in the encoding or storage of information in memory, or in retrieval of information from memory. Etiologies vary and include traumatic brain injury, neurodegenerative disease, and psychiatric illness. Different forms of amnesia can be distinguished: anterograd

  6. Conversion Disorder

    National Research Council Canada - National Science Library

    Fisher, Robert S; Stonnington, Cynthia M; Barry, John J

    2006-01-01

    ... to proceed after establishing a diagnosis of conversion disorder. Case Presentation "Ms. A," a 53-year-old left-handed woman, was admitted to our epilepsy monitoring unit for evaluation of a 4-month history of tremors, head bobbing, and episodic loss of awareness. The onset of these symptoms was 1 week after she had visited an emergency department...

  7. Penis Disorders

    Science.gov (United States)

    Problems with the penis can cause pain and affect a man's sexual function and fertility. Penis disorders include Erectile dysfunction - inability to get or keep an erection Priapism - a painful erection that does not go away Peyronie's disease - bending of the penis during ...

  8. [Affective disorders and personality disorders].

    Science.gov (United States)

    Maurel, M; Adida, M; Belzeaux, R; Cermolacce, M; Azorin, J-M

    2014-12-01

    Coexistence in an individual of an affective disorder and a personality disorder is very common and there is an abundant literature on it. Articles are numerous and heterogeneous ; the results are sometimes imprecise or discordant. Some data are, despite these reserves, shared by the scientific community. The main consensus is first on a bad prognosis, with a high rate of all DSM axes comorbidities, secondly on the trap of a same phenomenology for different underlying mechanisms. A review is presented. Copyright © 2014 L’Encéphale. Published by Elsevier Masson SAS.. All rights reserved.

  9. Bipolar Disorder and Obsessive Compulsive Disorder Comorbidity

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2014-08-01

    Full Text Available The comorbidity of bipolar disorder and anxiety disorders is a well known concept. Obsessive-compulsive disorder is the most commonly seen comorbid anxiety disorder in bipolar patients. Some genetic variants, neurotransmitters especially serotonergic systems and second-messenger systems are thought to be responsible for its etiology. Bipolar disorder alters the clinical aspects of obsessive compulsive disorder and is associated with poorer outcome. The determination of comorbidity between bipolar disorder and obsessive compulsive disorder is quite important for appropriate clinical management and treatment. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2014; 6(4.000: 429-437

  10. Generalized Anxiety Disorder

    Science.gov (United States)

    ... Anxiety, anxiety disorders, anxious, behavior therapy, GAD, generalized anxiety disorder, mental health neuroses, mood disorders, psychiatric disorder, psychotherapy Family Health, Men, Seniors, Women January 1996 Copyright © American Academy of Family PhysiciansThis ...

  11. [Deglutition disorders].

    Science.gov (United States)

    Walther, E K

    1998-08-01

    Dysphagia is related to the impairment of food passage from the mouth to the stomach. Globus pharyngis implies the frequent and often painful sensation of a lump in the throat that usually does not interfere with swallowing and may even be relieved by food intake. The diagnosis is based upon a careful history, clinical examination, endoscopy, dynamic imaging (videofluoroscopy, cinematography, videosonography) and electrophysiologic procedures (including pharyngoesophageal manometry, electromyography and pH determinations). Structural lesions of the cervical spine such as diffuse idiopathic skeletal hyperostosis are rare causes of dysphagia. Dysphagia following anterior cervical fusion as well as globus and dysphonia due to dysfunction of the vertebral joints are more likely. Symptoms with swallowing fluids indicate a neurogenic origin. Dyscoordinated swallowing, nasal reflux, dysphonia or general weakness may also occur. Chronic aspiration with respiratory compromize is the main consequence in a variety of neurological disorders as well as in cases of postsurgical dysphagia. Relaxation of the upper esophageal sphincter indicates coordinated muscle movement between the pharynx and esophagus. Dysfunction of the pharyngoesophageal segment may lead to cricopharyngeal achalasia. A dyskinetic sphincter commonly represents an extrapharyngeal cause: i.e., disease associated with gastroesophageal reflux. Disorders of the esophageal phase of deglutition can produce retrosternal pain, heartburn, regurgitation and vomiting, as well as laryngeal and respiratory signs. Esophageal motility disorders include lower achalasia, tumors, peptic strictures, inflammatory diseases, drug-induced ulcers, rings and webs. Motility disorders present with aperistaltic, spontaneous contractions, diffuse esophagospasm, or a hypermotile esophagus. Gastroesophageal reflux with esophagitis must always be excluded, especially in patients with a globus sensation. The multiple features of the

  12. Psychiatric Disorder

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    2011392 Association Study of GABRB2 gene and antidepressant response to SNRI in patients with major depression. LIU Shanming(劉善明),et al.Psychiatry Dept West China Hosp,Sichuan Univ.Chengdu 610041. Abstract:Objective To investigate whether the Gamma-aminobutyric acid receptor subunit beta-2(GABRB2) gene polymorphisms is associated with the therapeutic response to venlafaxine,Serotonin and Norepinephrine Reuptake Inhibitor(SNRI) in major depressive disorder patients. Methods The study sample consisted

  13. Pain Disorder

    Directory of Open Access Journals (Sweden)

    Carlos Capela

    2014-06-01

    Full Text Available Pain disorder is a psychiatric disorder diagnosed when the pain becomes the predominant focus of the clinical presentation and causes significant distress or impairment. Besides the high economic impact, there is a reciprocal relationship with the affective state. Pain is a subjective sensation and its severity and quality of experience in an individual is dependent on a complex mix of factors. In the treatment of acute pain, the primary purpose is pain relief, while chronic pain typically requires a combination of psychotropic drugs. In this context, it is also important to recognize and treat depression. Psychological treatments aimed at providing mechanisms to allow patients to "control and live with the pain" rather than aspire to eliminate it completely. A growing group of researchers proposes the elimination of the chapter of Somatoform Disorders and the modification of the category "psychological factors affecting a medical condition" to "psychological factors affecting an identified or feared medical condition" with clinical entities as ubchapters, largely based upon Diagnostics for Psychosomatic Research criteria.

  14. Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Takayama, K.; Salazar, E.P.; Thompson, L.H. [Lawrence Livermore National Lab., CA (United States)] [and others

    1996-02-01

    Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized by brittle hair with reduced sulfur content, ichthyosis, peculiar face, and mental and growth retardation. Clinical photosensitivity is present in {approximately}50% of TTD patients but is not associated with an elevated frequency of cancers. Previous complementation studies show that the photosensitivity in nearly all of the studied patients is due to a defect in the same genetic locus that underlies the cancer-prone genetic disorder xeroderma pigmentosum group D (XP-D). Nucleotide-sequence analysis of the ERCC2 cDNA from three TTD cell strains (TTD1VI, TTD3VI, and TTD1RO) revealed mutations within the region from amino acid 713-730 and within previously identified helicase functional domains. The various clinical presentations and DNA repair characteristics of the cell strains can be correlated with the particular mutations found in the ERCC2 locus. Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains. 39 refs., 2 figs., 3 tabs.

  15. [Are eating disorders addictions?].

    Science.gov (United States)

    Kinzl, Johann F; Biebl, Wilfried

    2010-01-01

    The various eating disorders, anorexia nervosa, bulimia nervosa, and binge-eating disorder, are characterized by severe disturbances in eating behavior and are seen as typical "psychosomatic disorders". The subdivision of anorexia nervosa into two subtypes, namely "anorexia nervosa restricting type" and "anorexia nervosa bulimic type" has proved to be very good. It is to be assumed that eating disorders are not a homogeneous group, and that the various subtypes of eating disorders are also heterogeneous at several levels. Co-morbid psychiatric disorders, especially affective disorders, anxiety disorders, substance-related disorders, and personality disorders, are often found in eating- disordered patients. Many anorectics of the restrictive type and orthorectics show co-morbid psychiatric disorders such as anxiety disorders, obsessive-compulsive disorders, and avoidant or obsessive-compulsive personality disorders, while a co-morbidity of affective disorders, addiction, personality disorders, especially multi-impulsivity and borderline personality disorder, is frequently found in anorectics of bulimic type, bulimics, and binge eaters. Addictive behavior manifests itself in permanent preoccupation with food and eating, withdrawal symptoms, continuation of disturbed eating behavior in spite of negative consequences, loss of control, and frequent relapse. There are some indications that there is a basic psychological disturbance common to eating disorders, especially bulimia nervosa, and to substance-related disorders, namely a personality disorder with an emotional instability and multi-impulsivity. The possible associations between eating disorders and mental disorders, particularly addictions, will be discussed.

  16. Disordered eating practices in gastrointestinal disorders.

    Science.gov (United States)

    Satherley, R; Howard, R; Higgs, S

    2015-01-01

    To systematically review evidence concerning disordered eating practices in dietary-controlled gastrointestinal conditions. Three key questions were examined: a) are disordered eating practices a feature of GI disorders?; b) what abnormal eating practices are present in those with GI disorders?; and c) what factors are associated with the presence of disordered eating in those with GI disorders? By exploring these questions, we aim to develop a conceptual model of disordered eating development in GI disease. Five key databases, Web of Science with Conference Proceedings (1900-2014) and MEDLINE (1950-2014), PubMed, PsycINFO (1967-2014) and Google Scholar, were searched for papers relating to disordered eating practices in those with GI disorders. All papers were quality assessed before being included in the review. Nine papers were included in the review. The majority of papers reported that the prevalence of disordered eating behaviours is greater in populations with GI disorders than in populations of healthy controls. Disordered eating patterns in dietary-controlled GI disorders may be associated with both anxiety and GI symptoms. Evidence concerning the correlates of disordered eating was limited. The presence of disordered eating behaviours is greater in populations with GI disorders than in populations of healthy controls, but the direction of the relationship is not clear. Implications for further research are discussed. Copyright © 2014 Elsevier Ltd. All rights reserved.

  17. Mitochondrial disorders.

    Science.gov (United States)

    Zeviani, M; Tiranti, V; Piantadosi, C

    1998-01-01

    Mitochondrial respiration, the most efficient metabolic pathway devoted to energy production, is at the crosspoint of 2 quite different genetic systems, the nuclear genome and the mitochondrial genome (mitochondrial DNA, mtDNA). The latter encodes a few essential components of the mitochondrial respiratory chain and has unique molecular and genetic properties that account for some of the peculiar features of mitochondrial disorders. However, the perpetuation, propagation, and expression of mtDNA, the majority of the subunits of the respiratory complexes, as well as a number of genes involved in their assembly and turnover, are contained in the nuclear genome. Although mitochondrial disorders have been known for more than 30 years, a major breakthrough in their understanding has come much later, with the discovery of an impressive, ever-increasing number of mutations of mitochondrial DNA. Partial deletions or duplications of mtDNA, or maternally inherited point mutations, have been associated with well-defined clinical syndromes. However, phenotypes transmitted as mendelian traits have also been identified. These include clinical entities defined on the basis of specific biochemical defects, and also a few autosomal dominant or recessive syndromes associated with multiple deletions or tissue-specific depletion of mtDNA. Given the complexity of mitochondrial genetics and biochemistry, the clinical manifestations of mitochondrial disorders are extremely heterogenous. They range from lesions of single tissues or structures, such as the optic nerve in Leber hereditary optic neuropathy or the cochlea in maternally inherited nonsyndromic deafness, to more widespread lesions including myopathies, encephalomyopathies, cardiopathies, or complex multisystem syndromes. The recent advances in genetic studies provide both diagnostic tools and new pathogenetic insights in this rapidly expanding area of human pathology.

  18. Temporomandibular disorders

    DEFF Research Database (Denmark)

    List, Thomas; Jensen, Rigmor Højland

    2017-01-01

    , limitations in jaw movement, and noise from the TMJs during jaw movements. TMD affects up to 15% of adults and 7% of adolescents. Chronic pain is the overwhelming reason that patients with TMD seek treatment. TMD can associate with impaired general health, depression, and other psychological disabilities......, and may affect the quality of life of the patient. Assessment Evaluations indicate that the recently published Diagnostic Criteria for TMD (DC/TMD) are reliable and valid. These criteria cover the most common types of TMD, which include pain-related disorders (e.g., myalgia, headache attributable to TMD...

  19. Imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Perez de Nanclares, Guiomar; Maher, Eamonn R

    2015-01-01

    Congenital imprinting disorders (IDs) are characterised by molecular changes affecting imprinted chromosomal regions and genes, i.e. genes that are expressed in a parent-of-origin specific manner. Recent years have seen a great expansion in the range of alterations in regulation, dosage or DNA...... impacts upon growth, development and metabolism. Thus, detailed and systematic analysis of IDs can not only identify unifying principles of molecular epigenetics in health and disease, but also support personalisation of diagnosis and management for individual patients and families....

  20. Myotonic disorders

    Directory of Open Access Journals (Sweden)

    Mankodi Ami

    2008-01-01

    Full Text Available Myotonia reflects a state of muscle fiber hyperexcitability. Impaired transmembrane conductance of either chloride or sodium ions results in myotonia. Myotonic disorders include the myotonic dystrophies and nondystrophic myotonias. Mutations in the genes encoding chloride (ClC-1 or sodium (SCN4A channels expressed exclusively in skeletal muscle cause nondystrophic myotonias. Genetic defects in the myotonic dystrophies do not involve ion channel or its regulator proteins. Recent research supports a novel RNA-mediated disease mechanism of myotonia in the myotonic dystrophies. Myotonic dystrophy Type 1 is caused by CTG repeat expansion in the 3′ untranslated region in the Dystrophia Myotonica Protein Kinase (DMPK gene. Myotonic dystrophy Type 2 is caused by CCTG repeat expansion in the first intron in Zinc Finger Protein 9 (ZNF9 gene. The expanded repeat is transcribed in RNA and forms discrete inclusions in nucleus in both types of myotonic dystrophies. Mutant RNA sequesters MBNL1, a splice regulator protein and depletes MBNL1 from the nucleoplasm. Loss of MBNL1 results in altered splicing of ClC-1 mRNA. Altered splice products do not encode functional ClC-1 protein. Subsequent loss of chloride conductance in muscle membrane causes myotonia in the myotonic dystrophies. The purpose of this review is to discuss the clinical presentation, recent advances in understanding the disease mechanism with particular emphasis on myotonic dystrophies and potential therapy options in myotonic disorders.

  1. Oxytocin and Psychiatric Disorders

    Directory of Open Access Journals (Sweden)

    Gokce Nur Say

    2016-06-01

    Full Text Available Oxytocin is a neuropeptide that plays critical role in mother-infant bonding, pair bonding and prosocial behaviors. Several neuropsychiatric disorders such as autism, schizophrenia, affective disorders, anxiety disorders, attention deficit/hyperactivity disorder, alcohol/substance addiction, aggression, suicide, eating disorders and personality disorders show abnormalities of oxytocin system. These findings have given rise to the studies searching therapeutic use of oxytocin for psychi-atric disorders. The studies of oxytocin interventions in psychiatric disorders yielded potentially promising findings. This paper reviews the role of oxytocin in emotions, behavior and its effects in psychiatric disorders. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2016; 8(2: 102-113

  2. Overview of Optic Nerve Disorders

    Science.gov (United States)

    ... Fundamentals Heart and Blood Vessel Disorders Hormonal and Metabolic Disorders Immune Disorders Infections Injuries and Poisoning Kidney and ... Fundamentals Heart and Blood Vessel Disorders Hormonal and Metabolic Disorders Immune Disorders Infections Injuries and Poisoning Kidney and ...

  3. Obsessive Compulsive Disorder among Adults

    Science.gov (United States)

    ... Among U.S. Adults Any Disorder Among Children Any Anxiety Disorder Among Adults Any Anxiety Disorder Among Children Agoraphobia Among Adults Agoraphobia Among Children Generalized Anxiety Disorder Among Adults Generalized Anxiety Disorder Among Children Obsessive Compulsive Disorder ...

  4. Psychogenic Movement Disorders

    Directory of Open Access Journals (Sweden)

    Chakravarty Ambar

    2004-01-01

    Full Text Available Psychogenic movement Disorders (PMD may result from somatoform disorders, factitious disorders, malingering, depression anxiety disorders and less frequently, histrionic personality disorders. First recognized by Henry Head in early twentieth century, PMD s commonly encountered and clues to their differentiation from organic disease. A generally accepted management protocol has been outlined.

  5. Borderline Personality Disorder

    Science.gov (United States)

    ... co-occurring mental disorders, such as mood disorders, anxiety disorders, and eating disorders, along with substance abuse, self- ... Study Borderline Personality Disorder Studies Research Results PubMed: Journal Articles about Borderline Personality ... Contact Us Staff Directories Privacy Notice Policies FOIA ...

  6. Autism Spectrum Disorder - A Complex Genetic Disorder

    Directory of Open Access Journals (Sweden)

    Ivanov Hristo Y.

    2015-03-01

    Full Text Available Autism spectrum disorder is an entity that reflects a scientific consensus that several previously separated disorders are actually a single spectrum disorder with different levels of symptom severity in two core domains - deficits in social communication and interaction, and restricted repetitive behaviors. Autism spectrum disorder is diagnosed in all racial, ethnic and socioeconomic groups and because of its increased prevalence, reported worldwide through the last years, made it one of the most discussed child psychiatric disorders. In term of aetiology as several other complex diseases, Autism spectrum disorder is considered to have a strong genetic component.

  7. Sleep Disorders in Childhood Neurogenetic Disorders

    Directory of Open Access Journals (Sweden)

    Laura Beth Mann Dosier

    2017-09-01

    Full Text Available Genetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as “rare disease,” but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic disorders including Down syndrome, Angelman syndrome, Prader–Willi syndrome, Smith–Magenis syndrome, congenital central hypoventilation syndrome, achondroplasia, mucopolysaccharidoses, and Duchenne muscular dystrophy. Each disorder is presented in the following format: overview, clinical characteristics, developmental aspects, associated sleep disorders, management and research/future directions.

  8. A tour in sign language

    CERN Multimedia

    François Briard

    2016-01-01

    In early May, CERN welcomed a group of deaf children for a tour of Microcosm and a Fun with Physics demonstration.   On 4 May, around ten children from the Centre pour enfants sourds de Montbrillant (Montbrillant Centre for Deaf Children), a public school funded by the Office médico-pédagogique du canton de Genève, took a guided tour of the Microcosm exhibition and were treated to a Fun with Physics demonstration. The tour guides’ explanations were interpreted into sign language in real time by a professional interpreter who accompanied the children, and the pace and content were adapted to maximise the interaction with the children. This visit demonstrates CERN’s commitment to remaining as widely accessible as possible. To this end, most of CERN’s visit sites offer reduced-mobility access. In the past few months, CERN has also welcomed children suffering from xeroderma pigmentosum (a genetic disorder causing extreme sensiti...

  9. XPD Helicase Structures and Activities: Insights into the Cancer and Aging Phenotypes from XPD Mutations

    Energy Technology Data Exchange (ETDEWEB)

    Tainer, John; Fan, Li; Fuss, Jill O.; Cheng, Quen J.; Arvai, Andrew S.; Hammel, Michal; Roberts, Victoria A.; Cooper, Priscilla K.; Tainer, John A.

    2008-06-02

    Mutations in XPD helicase, required for nucleotide excision repair (NER) as part of the transcription/repair complex TFIIH, cause three distinct phenotypes: cancer-prone xeroderma pigmentosum (XP), or aging disorders Cockayne syndrome (CS), and trichothiodystrophy (TTD). To clarify molecular differences underlying these diseases, we determined crystal structures of the XPD catalytic core from Sulfolobus acidocaldarius and measured mutant enzyme activities. Substrate-binding grooves separate adjacent Rad51/RecA-like helicase domains (HD1, HD2) and an arch formed by 4FeS and Arch domains. XP mutations map along the HD1 ATP-binding edge and HD2 DNA-binding channel and impair helicase activity essential for NER. XP/CS mutations both impair helicase activity and likely affect HD2 functional movement. TTD mutants lose or retain helicase activity but map to sites in all four domains expected to cause framework defects impacting TFIIH integrity. These results provide a foundation for understanding disease consequences of mutations in XPD and related 4Fe-4S helicases including FancJ.

  10. Basal Cell Carcinoma in Young Patients

    Directory of Open Access Journals (Sweden)

    Uğur Horoz

    2017-03-01

    Full Text Available Basal cell carcinoma (BCC is the most common type of skin cancer and has a direct relationship with chronic sun exposure. Other risk factors include fair skin and eyes, freckling, family history, genetic disorders, immunosuppression, ionizing radiation, arsenic, and polyaromatic hydrocarbons. BCC usually progresses slowly. Lesions are usually seen over sun-exposed areas, which are most commonly on the face and neck. Local invasion may occur, but it rarely metastasizes. The incidence of BCC peaks in the seventh decade of life. BCC is an uncommon lesion during childhood, youth, and pregnancy. It has rarely been reported during childhood. BCC seen during childhood can be inherited with diseases such as xeroderma pigmentosum, albinism, Bazex syndrome, and basal cell nevus syndrome or after high-dose radiotherapy. In this study, we present the cases of a 14-year-old girl with BCC on the right popliteal region and a 23-year-old pregnant woman with BCC on the nasal tip. Both patients underwent total excision, and there were neither recurrence nor any complication during the follow-up

  11. XPD Helicase Structures And Activities: Insights Into the Cancer And Aging Phenotypes From XPD Mutations

    Energy Technology Data Exchange (ETDEWEB)

    Fan, L.; Fuss, J.O.; Cheng, Q.J.; Arvai, A.S.; Hammel, M.; Roberts, V.A.; Cooper, P.K.; Tainer, J.A.

    2009-05-18

    Mutations in XPD helicase, required for nucleotide excision repair (NER) as part of the transcription/repair complex TFIIH, cause three distinct phenotypes: cancer-prone xeroderma pigmentosum (XP), or aging disorders Cockayne syndrome (CS), and trichothiodystrophy (TTD). To clarify molecular differences underlying these diseases, we determined crystal structures of the XPD catalytic core from Sulfolobus acidocaldarius and measured mutant enzyme activities. Substrate-binding grooves separate adjacent Rad51/RecA-like helicase domains (HD1, HD2) and an arch formed by 4FeS and Arch domains. XP mutations map along the HD1 ATP-binding edge and HD2 DNA-binding channel and impair helicase activity essential for NER. XP/CS mutations both impair helicase activity and likely affect HD2 functional movement. TTD mutants lose or retain helicase activity but map to sites in all four domains expected to cause framework defects impacting TFIIH integrity. These results provide a foundation for understanding disease consequences of mutations in XPD and related 4Fe-4S helicases including FancJ.

  12. Host cell reactivation of uv- and X-ray-damaged herpes simplex virus by Epstein-Barr virus (EBV)-transformed lymphoblastoid cell lines

    Energy Technology Data Exchange (ETDEWEB)

    Henderson, E.E. (Temple Univ. School of Medicine, Philadelphia, PA); Long, W.K.

    1981-12-01

    The efficacy of using an infected centers assay, employing herpes simplex virus-infected, Epstein-Barr virus-transformed lymphoblastoid cell lines (LCLs) as components, to study host cell reactivation has been explored. Herpes simplex virus type 1 (HSV-1) was shown through the infected centers assay to have detectable but varying ability to lytically infect LCLs established from chromosomal breakage syndromes or closely related genetic disorders. The rate of HSV inactivation by ultraviolet (uv) irradiation was faster in LCLs established from Cockaynes's syndrome than in normal LCLs, and faster still in LCLs established from xeroderma pigmentosum. These results indicate that Cockayne's syndrome, while having what appears to be quantitatively normal levels of uv-induced DNA repair replication, shows decreased ability to host cell reactivated uv-damaged HSV. In direct contrast, X-irradiated HSV showed identical survival when assayed on normal LCLs or LCLs established from ataxia telangiectasia showing increased sensitivity to X irradiation as measured by colony formation. Through the infected centers assay, it has also been possible to demonstrate low levels of multiplicity reactivation of mutagen-damaged HSV in permanently proliferating LCLs.

  13. The Role of Altered Nucleotide Excision Repair and UVB-Induced DNA Damage in Melanomagenesis

    Directory of Open Access Journals (Sweden)

    Timothy Budden

    2013-01-01

    Full Text Available UVB radiation is the most mutagenic component of the UV spectrum that reaches the earth’s surface and causes the development of DNA damage in the form of cyclobutane pyrimidine dimers and 6-4 photoproducts. UV radiation usually results in cellular death, but if left unchecked, it can affect DNA integrity, cell and tissue homeostasis and cause mutations in oncogenes and tumour-suppressor genes. These mutations, if unrepaired, can lead to abnormal cell growth, increasing the risk of cancer development. Epidemiological data strongly associates UV exposure as a major factor in melanoma development, but the exact biological mechanisms involved in this process are yet to be fully elucidated. The nucleotide excision repair (NER pathway is responsible for the repair of UV-induced lesions. Patients with the genetic disorder Xeroderma Pigmentosum have a mutation in one of eight NER genes associated with the XP complementation groups XP-A to XP-G and XP variant (XP-V. XP is characterized by diminished repair capacity, as well as a 1000-fold increase in the incidence of skin cancers, including melanoma. This has suggested a significant role for NER in melanoma development as a result of UVB exposure. This review discusses the current research surrounding UVB radiation and NER capacity and how further investigation of NER could elucidate the role of NER in avoiding UV-induced cellular death resulting in melanomagenesis.

  14. Photocarcinogenesis and Skin Cancer Prevention Strategies.

    Science.gov (United States)

    Seebode, Christina; Lehmann, Janin; Emmert, Steffen

    2016-03-01

    In this review the basic principles of UV-induced carcinogenesis are summarized and the state of the art diagnosis and therapeutic strategies are discussed. The prevalent keratinocyte-derived neoplasms of the skin are basal cell and squamous cell carcinomas. Cutaneous melanoma is less frequent but associated with high mortality. Common risk factors for all three tumor entities include sun exposure and DNA-repair deficiencies. Photocarcinogenesis follows a multistep model of cancer development in which ultraviolet-induced DNA damage leads to mutations resulting in activation of oncogenes or silencing of tumor-suppressor genes. This ends in a cellular mutator phenotype even more prone to mutation acquisition. DNA repair, especially the nucleotide excision repair (NER) pathway, counteracts mutation formation and skin cancer development. This is vividly demonstrated by the NER-defective disorder xeroderma pigmentosum. Primary skin cancer preventative strategies, therefore, include reduction of DNA photodamage by protection from the sun. Secondary preventative strategies include skin cancer screening. This implies standard examination techniques with the naked eye, an epiluminescence microscope, or digital epiluminescence microscopy. More advanced techniques include confocal laser scan microscopy.

  15. A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU).

    Science.gov (United States)

    Limsirichaikul, Siripan; Niimi, Atsuko; Fawcett, Heather; Lehmann, Alan; Yamashita, Shunichi; Ogi, Tomoo

    2009-03-01

    Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder. Afflicted patients show extreme sun-sensitivity and skin cancer predisposition. XP is in most cases associated with deficient nucleotide excision repair (NER), which is the process responsible for removing photolesions from DNA. Measuring NER activity by nucleotide incorporation into repair patches, termed 'unscheduled DNA synthesis (UDS)', is one of the most commonly used assays for XP-diagnosis and NER research. We have established a rapid and accurate procedure for measuring UDS by replacement of thymidine with 5-ethynyl-2'-deoxyuridine (EdU). EdU incorporated into repair patches can be directly conjugated to fluorescent azide derivatives, thereby obviating the need for either radiolabeled thymidine or denaturation and antibody detection of incorporated bromodeoxyuridine (BrdU). We demonstrate that the EdU incorporation assay is compatible with conventional techniques such as immunofluorescent staining and labeling of cells with micro-latex beads. Importantly, we can complete the entire UDS assay within half a day from preparation of the assay coverslips; this technique may prove useful as a method for XP diagnosis.

  16. Carbohydrate Metabolism Disorders

    Science.gov (United States)

    ... you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) ... metabolic disorder, something goes wrong with this process. Carbohydrate metabolism disorders are a group of metabolic disorders. ...

  17. Types of Bipolar Disorder

    Science.gov (United States)

    ... same time, which is also known as major depressive disorder with mixed features. Bipolar Disorder and Other Illnesses Some bipolar disorder symptoms are similar to other illnesses, which can make ...

  18. Reactive Attachment Disorder

    Science.gov (United States)

    ... Reactive Attachment Disorder and Disinhibited Social Engagement Disorder. Reactive Attachment Disorder (RAD) Children with RAD are less likely to interact with other people because of negative experiences with adults in their early years. They have difficulty calming ...

  19. Developmental coordination disorder

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001533.htm Developmental coordination disorder To use the sharing features on this page, please enable JavaScript. Developmental coordination disorder is a childhood disorder. It leads to ...

  20. Kids and Eating Disorders

    Science.gov (United States)

    ... Know About Puberty Train Your Temper Kids and Eating Disorders KidsHealth > For Kids > Kids and Eating Disorders Print ... withdrawing from social activities previous continue What Causes Eating Disorders? There really is no single cause for an ...

  1. Symptoms of Blood Disorders

    Science.gov (United States)

    ... leg (causing most often swelling, redness, and/or warmth of the leg or shortness of breath) Petechiae ( ... Disorders Symptoms of Blood Disorders Medical History and Physical Examination for Blood Disorders Laboratory Tests for Blood ...

  2. Children with Learning Disorders

    Science.gov (United States)

    ... but a common one is a specific learning disorder. Children with learning disorders can have intelligence in the normal but the specific learning disorder may make teachers and parents concerned about their ...

  3. Chronic motor tic disorder

    Science.gov (United States)

    Chronic vocal tic disorder; Tic - chronic motor tic disorder ... Chronic motor tic disorder is more common than Tourette syndrome . Chronic tics may be forms of Tourette syndrome. Tics usually start ...

  4. Paranoid personality disorder

    Science.gov (United States)

    Personality disorder - paranoid; PPD ... American Psychiatric Association. Paranoid personality disorder. Diagnostic and Statistical Manual of ental Disorders . 5th ed. Arlington, VA: American Psychiatric Publishing. 2013:649-652. Blais MA, ...

  5. Histrionic personality disorder

    Science.gov (United States)

    Personality disorder - histrionic; Attention seeking - histrionic personality disorder ... Causes of histrionic personality disorder are unknown. Genes and early childhood events may be responsible. It is diagnosed more often in women than ...

  6. Eye Movement Disorders

    Science.gov (United States)

    ... work properly. There are many kinds of eye movement disorders. Two common ones are Strabismus - a disorder in ... the eyes, sometimes called "dancing eyes" Some eye movement disorders are present at birth. Others develop over time ...

  7. Binge Eating Disorder

    Science.gov (United States)

    ... Our ePublications > Binge eating disorder fact sheet ePublications Binge eating disorder fact sheet Print this fact sheet Binge eating disorder fact sheet (PDF, 211 KB) Related information Anorexia ...

  8. Autism Spectrum Disorder - A Complex Genetic Disorder

    OpenAIRE

    Ivanov Hristo Y.; Stoyanova Vili K.; Popov Nikolay T.; Vachev Tihomir I.

    2015-01-01

    Autism spectrum disorder is an entity that reflects a scientific consensus that several previously separated disorders are actually a single spectrum disorder with different levels of symptom severity in two core domains - deficits in social communication and interaction, and restricted repetitive behaviors. Autism spectrum disorder is diagnosed in all racial, ethnic and socioeconomic groups and because of its increased prevalence, reported worldwide through the last years, made it one of the...

  9. Trichotillomania, stereotypic movement disorder, and related disorders.

    Science.gov (United States)

    Stein, Dan J; Garner, Joseph P; Keuthen, Nancy J; Franklin, Martin E; Walkup, John T; Woods, Douglas W

    2007-08-01

    Trichotillomania is currently classified as an impulse control disorder not otherwise classified, whereas body-focused behaviors other than hair-pulling may be diagnosed as stereotypic movement disorder. A number of disorders characterized by repetitive, body-focused behaviors (eg, skin-picking) are prevalent and disabling and may have phenomenological and psychobiological overlap. Such disorders deserve greater recognition in the official nosology, and there would seem to be clinical utility in classifying them in the same diagnostic category.

  10. Autism Spectrum Disorders (Pervasive Developmental Disorders)

    Science.gov (United States)

    Strock, Margaret

    2007-01-01

    This booklet focuses on classic autism, pervasive developmental disorder not otherwise specified (PDD-NOS), and Asperger syndrome, with brief descriptions of Rett syndrome and childhood disintegrative disorder. The booklet describes possible indicators of autism spectrum disorders (ASD), their diagnosis, available aids, treatment options, adults…

  11. [Conduct disorders].

    Science.gov (United States)

    Stadler, Christina

    2014-05-01

    The diagnosis conduct disorder (CD) is characterized by aggressive (e.g., physical aggression) as well as nonaggressive symptoms (e.g., violation of rules, truancy). Conclusions regarding the course and prognosis, or recommendations for effective interventions, seem not to be equally valid for the whole patient group. DSM-IV-TR included subtyping age-of-onset as a prognostic criterion, even though the evidence base for subtyping from age of onset was rather sparse. The relevant literature on CD has grown substantially since the publication of DSM-IV-TR in 1994. For the new DSM-5 edition, some important issues were discussed, for example, consideration of personality traits, female-specific or dimensional criteria, and adding a childhood-limited subtype (Moffitt et al., 2008). Nevertheless, the diagnostic protocol for CD was not changed in the most parts in the new edition of the DSM-5; the addition of a CD specifier with limited emotions is the most relevant change. On the basis of the existing evidence base, this review discusses whether the modifications in DSM-5 are helpful for fulfilling the requirements of a reliable and valid psychiatric classification.

  12. Learning Disorders in Epilepsy

    National Research Council Canada - National Science Library

    Beghi, Massimiliano; Cornaggia, Cesare Maria; Frigeni, Barbara; Beghi, Ettore

    2006-01-01

    Learning disorders (LD) are disorders interfering with academic performance or with daily living activities requiring reading, writing, or mathematical abilities in subjects with a normal intelligence quotient...

  13. Borderline personality disorder

    Science.gov (United States)

    Personality disorder - borderline ... Cause of borderline personality disorder (BPD) is unknown. Genetic, family, and social factors are thought to play roles. Risk factors for BPD include: Abandonment ...

  14. Psychiatric Disorder

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    15.1 Schizophrenia2007274 Effect and safety of combination therapy of valproate with lithium on recurrent mania. XU Wenwei(徐文炜), et al. Dept Psychiat, Wuxi Ment Health Center, Wuxi 214151. Chin J Psychiat 2007;40(2):86-89. Objective The study was to explore the effectiveness and safety of chronic combination reatment of valproate with lithium on recurrent mania. Method All 105 patients with mania-onset were andomly assigned to receive sodium valproate plus lithium (n=35), and monotherapy with lithium n=35) or sodium valproate (n=35), and were followed up for 5 years. At baseline, the symptom was valuated with the Bech-Rafaelsen Mania Rating Scale (BRMS). The drug dosage, times of relapse, effects nd safcty was compared among the three groups. Results After the acute therapy, the reductions in BRMS core were(43±29)% in lithium group, (42±27)% in valproate group, and (58±25)% in combination roup, respectively, with significant differences between the three groups (F=3.579, P=0.031). At ollowed-up, tile relapse times was significantly less in combination group than that in lithium and valproate roup(mean times of 2.0±1.5, 3.5±1.8, and 3.5±2.2, P=0.001). The combination therapy had etter effectiveness especially in patients with rapid cycling bipolar disorder(F=4.120, P=0.033) than the ther two monotherapy group. The mean dosage of single drug in combination group was significantly lower han that in lithium and valproate group (P<0.01; P<0.001). There were no significantly statistic differences on side-effects among three groups. Conclusion The efficacy of combination therapy of valproate with lithium on mania is better than the monotherapy of lithium or valproate in the light of safety and reduced occurrence.

  15. Comorbidity of bipolar disorder and eating disorders.

    Science.gov (United States)

    Álvarez Ruiz, Eva M; Gutiérrez-Rojas, Luis

    2015-01-01

    The comorbidity of bipolar disorder and eating disorders has not been studied in depth. In addition, clinical implications involved in the appearance of both disorders are very important. A systematic literature review of MEDLINE published up to September 2013 was performed, analyzing all the articles that studied the comorbidity of both conditions (bipolar disorder and eating disorders) and others research that studied the efficacy of pharmacological treatment and psychotherapy to improve these illnesses. In this review we found a high comorbidity of bipolar disorder and eating disorders, especially of bulimia nervosa and binge eating disorder. Studies show that lithium and topiramate are 2 of the more effective pharmacological agents in the treatment of both disorders. There are a lot of studies that show evidence of comorbidity of bipolar disorder and eating disorders. However, further research is needed on assessment and treatment when these conditions co-exist, as well as study into the biopsychological aspects to determine the comorbid aetiology. Copyright © 2014 SEP y SEPB. Published by Elsevier España. All rights reserved.

  16. ANXIETY DISORDERS: A REVIEW

    Directory of Open Access Journals (Sweden)

    Arya Ashwani

    2011-05-01

    Full Text Available Anxiety disorders are a highly prevalent and disabling class of psychiatric disorders. Anxiety disorders are highly prevalent and associated with substantial distress, morbidity and mortality. Recent epidemiological studies of anxiety disorders provided evidence of their high frequency in the general population worldwide. Anxiety disorders afflict an estimated 15.7 million people in the United States each year. Anxiety disorders are highly prevalent in adults with females showing higher preponderance of 2:1 as compared to males. Anxiety disorders are a group of mental disorders characterized by various combinations of key features - Irritability, fear, Insomnia, Nervousness, Tachycardia, Inability to concentrate, poor coping skills, Palpitation, Sweating, Agoraphobia and Social Withdrawal. The anxiety disorders, including panic disorder (PD, generalized anxiety disorder (GAD, social anxiety disorder (SAD, and posttraumatic stress disorder (PTSD, are among the disabling medical disorders. The neurobiology of anxiety disorders is not fully understood, but several different biologic abnormalities have been implicated in their etiology. The GABA, NE and 5HT systems play crucial roles in mediating the affective circuitry underlying the highly related clinical disorders of anxiety. Anxiety is a common psychiatric condition characterized by unnecessary aggression, poor quality of life, fear, worry, avoidance, and compulsive rituals that are associated with significant distress.

  17. Cerebellum and psychiatric disorders

    OpenAIRE

    Baldaçara,Leonardo; Borgio,João Guilherme Fiorani; Lacerda, Acioly Luiz Tavares de [UNIFESP; Jackowski, Andrea Parolin [UNIFESP

    2008-01-01

    OBJECTIVE: The objective of this update article is to report structural and functional neuroimaging studies exploring the potential role of cerebellum in the pathophysiology of psychiatric disorders. METHOD: A non-systematic literature review was conducted by means of Medline using the following terms as a parameter: "cerebellum", "cerebellar vermis", "schizophrenia", "bipolar disorder", "depression", "anxiety disorders", "dementia" and "attention deficit hyperactivity disorder". The electron...

  18. Movement disorders and sleep.

    Science.gov (United States)

    Driver-Dunckley, Erika D; Adler, Charles H

    2012-11-01

    This article summarizes what is currently known about sleep disturbances in several movement disorders including Parkinson disease, essential tremor, parkinsonism, dystonia, Huntington disease, myoclonus, and ataxias. There is an association between movement disorders and sleep. In some cases the prevalence of sleep disorders is much higher in patients with movement disorder, such as rapid eye movement sleep behavior disorder in Parkinson disease. In other cases, sleep difficulties worsen the involuntary movements. In many cases the medications used to treat patients with movement disorder disturb sleep or cause daytime sleepiness. The importance of discussing sleep issues in patients with movement disorders cannot be underestimated.

  19. Intermittent Explosive Disorder

    Directory of Open Access Journals (Sweden)

    Lut Tamam

    2011-09-01

    Full Text Available Intermittent explosive disorder is an impulse control disorder characterized by the occurrence of discrete episodes of failure to resist aggressive impulses that result in violent assault or destruction of property. Though the prevalence intermittent explosive disorder has been reported to be relatively rare in frontier studies on the field, it is now common opinion that intermittent explosive disorder is far more common than previously thought especially in clinical psychiatry settings. Etiological studies displayed the role of both psychosocial factors like childhood traumas and biological factors like dysfunctional neurotransmitter systems and genetics. In differential diagnosis of the disorder, disorders involving agression as a symptom such as alcohol and drug intoxication, antisocial and borderline personality disorders, personality changes due to general medical conditions and behavioral disorder should be considered. A combination of pharmacological and psychotherapeutic approaches are suggested in the treatment of the disorder. This article briefly reviews the historical background, diagnostic criteria, epidemiology, etiology and treatment of intermittent explosive disorder.

  20. Adult onset tic disorders

    OpenAIRE

    Chouinard, S; Ford, B.

    2000-01-01

    BACKGROUND—Tic disorders presenting during adulthood have infrequently been described in the medical literature. Most reports depict adult onset secondary tic disorders caused by trauma, encephalitis, and other acquired conditions. Only rare reports describe idiopathic adult onset tic disorders, and most of these cases represent recurrent childhood tic disorders.
OBJECTIVE—To describe a large series of patients with tic disorders presenting during adulthood, to compare cl...

  1. Lithium and Thyroid Disorders

    OpenAIRE

    Lut Tamam; Emel Kulan; Nurgul Ozpoyraz

    2003-01-01

    Lithium is a mood stabilizator drug which has been used in the treatment of many mental disorders including bipolar disorders, cyclothymia, recurrent depression, and schizoaffective disorder for the last 50 years. Clinical and experimental studies have shown that patients under lithium treatment could develop thyroid disorders in a range from single disorder in TSH response to severe mxyedema. [Archives Medical Review Journal 2003; 12(2.000): 99-114

  2. Lithium and Thyroid Disorders

    Directory of Open Access Journals (Sweden)

    Lut Tamam

    2003-04-01

    Full Text Available Lithium is a mood stabilizator drug which has been used in the treatment of many mental disorders including bipolar disorders, cyclothymia, recurrent depression, and schizoaffective disorder for the last 50 years. Clinical and experimental studies have shown that patients under lithium treatment could develop thyroid disorders in a range from single disorder in TSH response to severe mxyedema. [Archives Medical Review Journal 2003; 12(2.000: 99-114

  3. Neurodegeneration in accelerated aging.

    Science.gov (United States)

    Scheibye-Knudsen, Moren

    2016-11-01

    The growing proportion of elderly people represents an increasing economic burden, not least because of age-associated diseases that pose a significant cost to the health service. Finding possible interventions to age-associated disorders therefore have wide ranging implications. A number of genetically defined accelerated aging diseases have been characterized that can aid in our understanding of aging. Interestingly, all these diseases are associated with defects in the maintenance of our genome. A subset of these disorders, Cockayne syndrome, Xeroderma pigmentosum group A and ataxia-telangiectasia, show neurological involvement reminiscent of what is seen in primary human mitochondrial diseases. Mitochondria are the power plants of the cells converting energy stored in oxygen, sugar, fat, and protein into ATP, the energetic currency of our body. Emerging evidence has linked this organelle to aging and finding mitochondrial dysfunction in accelerated aging disorders thereby strengthens the mitochondrial theory of aging. This theory states that an accumulation of damage to the mitochondria may underlie the process of aging. Indeed, it appears that some accelerated aging disorders that show neurodegeneration also have mitochondrial dysfunction. The mitochondrial alterations may be secondary to defects in nuclear DNA repair. Indeed, nuclear DNA damage may lead to increased energy consumption, alterations in mitochondrial ATP production and defects in mitochondrial recycling, a term called mitophagy. These changes may be caused by activation of poly-ADP-ribose-polymerase 1 (PARP1), an enzyme that responds to DNA damage. Upon activation PARP1 utilizes key metabolites that attenuate pathways that are normally protective for the cell. Notably, pharmacological inhibition of PARP1 or reconstitution of the metabolites rescues the changes caused by PARP1 hyperactivation and in many cases reverse the phenotypes associated with accelerated aging. This implies that modulation

  4. Binge Eating Disorder

    Directory of Open Access Journals (Sweden)

    Senol Turan

    2015-12-01

    Full Text Available Binge Eating Disorder, characterized by frequent and persistent overeating episodes that are accompanied by feeling of loss of control over eating without regular compensatory behaviors and was identified in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition as a new eating disorder category. Binge Eating Disorder is the most common eating disorder among adults. Binge Eating Disorder is associated with significant morbidity, including medical complications related to obesity, eating disorder psychopathology, psychiatric comorbidity; reduced quality of life, and impaired social functioning. Current treatments of Binge Eating Disorder include pharmacotherapy, psychotherapy and bariatric surgery. In this review, the definition, epidemiology, etiology, clinical features, and also mainly treatment of Binge Eating Disorder are discussed.

  5. Asperger disorder in adults.

    Science.gov (United States)

    Arora, Manu; Praharaj, Samir Kumar; Sarkhel, Sujit; Sinha, Vinod Kumar

    2011-04-01

    Asperger disorder was first described in 1944 by the Austrian pediatrician, Hans Asperger. It was introduced as a separate diagnostic category from autistic disorder in DSM-IV and ICD-10. The pattern of comorbidity in Asperger disorder is different from autistic disorder, with a higher level of psychosis, violent behavior, anxiety, and mood disorders. We present three cases of Asperger disorder diagnosed for the first time in adulthood, with psychosis being the predominant reason for the referral. In each case, the psychosis improved with antipsychotic treatment, although core autistic symptoms remained the same.

  6. Neuroimaging in Bipolar Disorder

    Directory of Open Access Journals (Sweden)

    Kemal Kara

    2013-03-01

    Full Text Available Bipolar disorder is characterized by recurrent attacks, significantly disrupts the functionality of a chronic mental disorder. Although there is growing number of studies on the neurobiological basis of the disorder, the pathophysiology has not yet been clearly understood. Structural and functional imaging techniques present a better understanding of the etiology of bipolar disorder and has contributed significantly to the development of the diagnostic approach. Recent developments in brain imaging modalities have let us learn more about the underlying abnormalities in neural systems of bipolar patients. Identification of objective biomarkers would help to determine the pathophysiology of bipolar disorder, a disorder which causes significant deterioration in neurocognitive and emotional areas.

  7. Bipolar disorder in adolescence.

    Science.gov (United States)

    DeFilippis, Melissa; Wagner, Karen Dineen

    2013-08-01

    Bipolar disorder is a serious psychiatric condition that may have onset in childhood. It is important for physicians to recognize the symptoms of bipolar disorder in children and adolescents in order to accurately diagnose this illness early in its course. Evidence regarding the efficacy of various treatments is necessary to guide the management of bipolar disorder in youth. For example, several medications commonly used for adults with bipolar disorder have not shown efficacy for children and adolescents with bipolar disorder. This article reviews the prevalence, diagnosis, course, and treatment of bipolar disorder in children and adolescents and provides physicians with information that will aid in diagnosis and treatment.

  8. [Obsessive-compulsive disorder. A hidden disorder].

    Science.gov (United States)

    Haraldsson, Magnús

    2015-02-01

    Obsessive-compulsive disorder is a common and often chronic psychiatric illness that significantly interferes with the patient´s functioning and quality of life. The disorder is characterized by excessive intrusive and inappropriate anxiety evoking thoughts as well as time consuming compulsions that cause significant impairment and distress. The symptoms are often accompanied by shame and guilt and the knowledge of the general public and professional community about the disorder is limited. Hence it is frequently misdiagnosed or diagnosed late. There are indications that the disorder is hereditary and that neurobiological processes are involved in its pathophysiology. Several psychological theories about the causes of obsessive-compulsive disorder are supported by empirical evidence. Evidence based treatment is either with serotoninergic medications or cognitive behavioral therapy, particularly a form of behavioral therapy called exposure response prevention. Better treatment options are needed because almost a third of people with obsessive-compulsive disorder respond inadequatly to treatment. In this review article two cases of obsessive-compulsive disorder are presented. The former case is a young man with typical symptoms that respond well to treatment and the latter is a middle aged lady with severe treatment resistant symptoms. She underwent stereotactic implantation of electrodes and received deep brain stimulation, which is an experimental treatment for severe obsessive-compulsive disorder that does not respond to any conventional treatment. Landspitali University Hospital, Division of Psychiatry. Faculty of Medicine, University of Iceland.

  9. [Personality disorders in eating disorder patients].

    Science.gov (United States)

    Martín Murcia, Francisco M; Cangas, Adolfo J; Pozo, Eugenia M; Martínez Sánchez, Margarita; López Pérez, Manuel

    2009-02-01

    Personality disorders in eating disorder patients. A follow-up study was designed to analyze the relation between personality disorders (PD) and the course of eating disorders (ED) in 34 patients who required treatment over 4 years and half. 91% of the clinical sample met the criteria for PD at the initial assessment and 36% at the end of treatment, with a significant reduction in MCMI-II scores at follow-up. The outcome of the ED was significantly related to the PD outcome. There was a higher rate of improvement of PD in the bulimic group (61%) than in anorexic group (34%). The patients who presented schizoid and avoidant personality disorders were the most resistant and they adhered less to treatment. The prevalence of PD in the clinical sample and its relation to the course of ED from a person-centered model is discussed.

  10. [Skin-picking disorder].

    Science.gov (United States)

    Niemeier, V; Peters, E; Gieler, U

    2015-10-01

    The disorder is characterized by compulsive repetitive skin-picking (SP), resulting in skin lesions. The patients must have undertaken several attempts to reduce or stop SP. The disorder must have led to clinically significant limitations in social, professional, or other important areas of life. The symptoms cannot be better explained by another emotional disorder or any other dermatological disease. In the new DSM-V, skin-picking disorder has been included in the diagnostic system as an independent disorder and describes the self-injury of the skin by picking or scratching with an underlying emotional disorder. SP is classified among the impulse-control disorders and is, thus, differentiated from compulsive disorders as such. There are often emotional comorbidities. In cases of pronounced psychosocial limitation, interdisciplinary cooperation with a psychotherapist and/or psychiatrist is indicated.

  11. How to characterize disorder

    Science.gov (United States)

    Egami, T.

    2016-05-01

    Researchers working on nuclear materials encounter disorder in the atomic structure all the time, usually caused by irradiation. The nature of disorder varies widely, from lattice defects to amorphous phase formation. Generally it is not easy to characterize the state of disorder with the accuracy necessary to elucidate the properties caused by structural disorder. However, owing to advances in the tools of characterization and rapid rise in computer power, significant progress has been made in characterizing structural disorder. We discuss how to describe and determine the structure and dynamics of disordered materials using scattering measurements and modeling. Lattice defects caused by irradiation usually has negative effects on properties, but glasses and highly disordered materials can be irradiation resistant, and could be useful as nuclear materials. Characterizing and controlling disorder is becoming an important endeavor in the field of nuclear materials.

  12. Antisocial personality disorder

    Science.gov (United States)

    Sociopathic personality; Sociopathy; Personality disorder - antisocial ... A person with antisocial personality disorder may: Be able to act witty and charming Be good at flattery and manipulating other people's emotions Break the ...

  13. Social anxiety disorder

    Science.gov (United States)

    ... to participate in social functions. Social anxiety disorder affects the ability to function in work and relationships. ... Alcohol or other drug use may occur with social anxiety disorder. Loneliness and social isolation may occur.

  14. Males and Eating Disorders

    Science.gov (United States)

    ... Bar Home Current Issue Past Issues Males and Eating Disorders Past Issues / Spring 2008 Table of Contents For ... this page please turn Javascript on. Photo: PhotoDisc Eating disorders primarily affect girls and women, but boys and ...

  15. Sleep and Eating Disorders.

    Science.gov (United States)

    Allison, Kelly C; Spaeth, Andrea; Hopkins, Christina M

    2016-10-01

    Insomnia is related to an increased risk of eating disorders, while eating disorders are related to more disrupted sleep. Insomnia is also linked to poorer treatment outcomes for eating disorders. However, over the last decade, studies examining sleep and eating disorders have relied on surveys, with no objective measures of sleep for anorexia nervosa or bulimia nervosa, and only actigraphy data for binge eating disorder. Sleep disturbance is better defined for night eating syndrome, where sleep efficiency is reduced and melatonin release is delayed. Studies that include objectively measured sleep and metabolic parameters combined with psychiatric comorbidity data would help identify under what circumstances eating disorders and sleep disturbance produce an additive effect for symptom severity and for whom poor sleep would increase risk for an eating disorder. Cognitive behavior therapy for insomnia may be a helpful addition to treatment of those with both eating disorder and insomnia.

  16. Genetic Brain Disorders

    Science.gov (United States)

    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form ... mutation is a change in a gene. Genetic brain disorders affect the development and function of the ...

  17. Illness anxiety disorder

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001236.htm Illness anxiety disorder To use the sharing features on this page, please enable JavaScript. Illness anxiety disorder (IAD) is a preoccupation that physical symptoms ...

  18. Obsessive-Compulsive Disorder

    Science.gov (United States)

    ... OCD What Is Obsessive-Compulsive Disorder? Everyone feels anxiety, fear, uncertainty, or worry at some time. These normal ... OCD. What Should I Do? Anxiety: Rachel's Story Anxiety Disorders ADHD Fears and Phobias Going to a Therapist Finding Low- ...

  19. Facial Injuries and Disorders

    Science.gov (United States)

    Face injuries and disorders can cause pain and affect how you look. In severe cases, they can affect sight, ... your nose, cheekbone and jaw, are common facial injuries. Certain diseases also lead to facial disorders. For ...

  20. Borderline Personality Disorder: Psychotherapy

    Medline Plus

    Full Text Available Search About Us Borderline Personality Disorder (BPD) Treatment Resources For Professionals Contact Us NYP.org Borderline Personality Disorder Resource Center Treatment Psychotherapy Psychotherapy Treatment Psychotherapy ...

  1. Schizoid Personality Disorder

    Science.gov (United States)

    ... personality disorder Overview By Mayo Clinic Staff Schizoid personality disorder is an uncommon condition in which people avoid social activities and consistently shy away from interaction with others. They also have a limited range ...

  2. Heart Diseases and Disorders

    Science.gov (United States)

    ... Resources Heart Diseases & Disorders Back to Patient Resources Heart Diseases & Disorders Millions of people experience irregular heartbeats, called ... harmless and happen in healthy people free of heart disease. However, some abnormal heart rhythms can be serious ...

  3. Binge Eating Disorder

    Science.gov (United States)

    ... Events Upcoming and past meetings Follow Us Social media, RSS feeds, and more Follow Us ... and Facts for Binge Eating Disorder Symptoms and Causes of Binge Eating Disorder Diagnosis and Treatment of ...

  4. Lipid Metabolism Disorders

    Science.gov (United States)

    ... metabolic disorder, something goes wrong with this process. Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are fats or fat-like substances. They ...

  5. Epilepsy and bipolar disorder.

    Science.gov (United States)

    Knott, Sarah; Forty, Liz; Craddock, Nick; Thomas, Rhys H

    2015-11-01

    It is well recognized that mood disorders and epilepsy commonly co-occur. Despite this, our knowledge regarding the relationship between epilepsy and bipolar disorder is limited. Several shared features between the two disorders, such as their episodic nature and potential to run a chronic course, and the efficacy of some antiepileptic medications in the prophylaxis of both disorders, are often cited as evidence of possible shared underlying pathophysiology. The present paper aims to review the bidirectional associations between epilepsy and bipolar disorder, with a focus on epidemiological links, evidence for shared etiology, and the impact of these disorders on both the individual and wider society. Better recognition and understanding of these two complex disorders, along with an integrated clinical approach, are crucial for improved evaluation and management of comorbid epilepsy and mood disorders.

  6. Stereotypic movement disorder

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001548.htm Stereotypic movement disorder To use the sharing features on this page, please enable JavaScript. Stereotypic movement disorder is a condition in which a person makes ...

  7. Amino Acid Metabolism Disorders

    Science.gov (United States)

    ... this process. One group of these disorders is amino acid metabolism disorders. They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together to form ...

  8. Anal and Rectal Disorders

    Science.gov (United States)

    ... switch to the Professional version Home Digestive Disorders Anal and Rectal Disorders Overview of the Anus and ... This Article Medical Dictionary Also of Interest (Quiz) Anal Fissure (Video) Overview of Celiac Disease (News) Another ...

  9. Chromosome Disorder Outreach

    Science.gov (United States)

    ... BLOG Join Us Donate You are not alone. Chromosome Disorder Outreach, Inc. is a non-profit organization, ... Support For all those diagnosed with any rare chromosome disorder. Since 1992, CDO has supported the parents ...

  10. Diagnosing Tic Disorders

    Science.gov (United States)

    ... Other Websites Information For... Media Policy Makers Diagnosing Tic Disorders Language: English Español (Spanish) Recommend on Facebook ... or postviral encephalitis). Persistent (Chronic) Motor or Vocal Tic Disorder For a person to be diagnosed with ...

  11. Thyroid Disorders (For Kids)

    Science.gov (United States)

    ... Want to Know About Puberty Train Your Temper Thyroid Disorders KidsHealth > For Kids > Thyroid Disorders Print A ... the world is a thyroid? What Is the Thyroid? The thyroid (say: THYE-royd) is a gland, ...

  12. Thyroid Disorders (For Kids)

    Science.gov (United States)

    ... Emergency Room? What Happens in the Operating Room? Thyroid Disorders KidsHealth > For Kids > Thyroid Disorders A A ... the world is a thyroid? What Is the Thyroid? The thyroid (say: THYE-royd) is a gland, ...

  13. Bleeding Disorders in Women

    Science.gov (United States)

    ... this? Submit What's this? Submit Button Past Emails Bleeding Disorders in Women Language: English Español (Spanish) Recommend ... risk for a bleeding disorder. What is excessive bleeding in women? Women with excessive bleeding may experience ...

  14. Schizotypal personality disorder

    Science.gov (United States)

    ... have depression. A second personality disorder, such as paranoid personality disorder , is also common. Common signs of ... of risk, such as a family history of schizophrenia, may allow early diagnosis. References American Psychiatric Association. ...

  15. Borderline Personality Disorder: Psychotherapy

    Medline Plus

    Full Text Available Search About Us Borderline Personality Disorder (BPD) Diagnosis and Treatment Resources For Professionals Contact Us NYP.org Borderline Personality Disorder Resource Center Diagnosis and Treatment ...

  16. Borderline Personality Disorder: Psychotherapy

    Medline Plus

    Full Text Available Search About Us Borderline Personality Disorder (BPD) Treatment Resources For Professionals Contact Us NYP.org Borderline Personality Disorder Resource Center Treatment Psychotherapy Psychotherapy Treatment Psychotherapy Taking Care of Yourself Questions About ...

  17. Narcissistic personality disorder

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000934.htm Narcissistic personality disorder To use the sharing features on this page, please enable JavaScript. Narcissistic personality disorder is a mental condition in which ...

  18. Functional Movement Disorder

    Science.gov (United States)

    ... improvement in symptoms following psychotherapy, use of a placebo (a medicine with no specific pharmacological benefit for the disorder ... improvement in symptoms following psychotherapy, use of a placebo (a medicine with no specific pharmacological benefit for the disorder ...

  19. Schizoid personality disorder

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000920.htm Schizoid personality disorder To use the sharing features on this page, please enable JavaScript. Schizoid personality disorder is a mental condition in which a ...

  20. Endocrine and Metabolic Disorders

    Science.gov (United States)

    ... for disorders of endocrine glands other than the thyroid, compared to 3.1 percent of visits made by women. The rate of visits due to metabolic and immunity disorders was also higher among men than women (2. ...

  1. Bipolar disorder (image)

    Science.gov (United States)

    Bipolar disorder is a mood disorder characterized by episodes of mania and major depression. Treatment with lithium or mood stabilizers may be effective, but medication regimens are sometimes difficult to tolerate and maintain, ...

  2. Common Eye Disorders

    Science.gov (United States)

    ... www.cdc.gov/emailupdates/">What's this? Submit Button Common Eye Disorders Recommend on Facebook Tweet Share Compartir ... macular degeneration, cataract, diabetic retinopathy, and glaucoma. Other common eye disorders include amblyopia and strabismus. For a ...

  3. Ghrelin and eating disorders

    National Research Council Canada - National Science Library

    Fabbri, Alessandra Donzelli; Deram, Sophie; Kerr, Daniel Shikanai; Cordás, Táki Athanássios

    2015-01-01

    ...; we searched PubMed, Scientific Electronic Library Online (SciELO), and LILACS databases using the keywords "eating disorder", "ghrelin", "polymorphism", "anorexia nervosa", "bulimia nervosa", "binge eating disorder", and their combinations...

  4. Reproductive Disorders in Snakes.

    Science.gov (United States)

    Di Girolamo, Nicola; Selleri, Paolo

    2017-05-01

    Reproduction of snakes is one of the challenging aspects of herpetology medicine. Due to the complexity of reproduction, several disorders may present before, during, or after this process. This article describes the physical examination, and radiographic, ultrasonographic, and endoscopic findings associated with reproductive disorders in snakes. Surgical techniques used to resolve reproductive disorders in snakes are described. Finally, common reproductive disorders in snakes are individually discussed.

  5. Sleep disorders - resistant forms

    OpenAIRE

    Koláčková, Pavla

    2016-01-01

    Charles University in Prague, Faculty of Pharmacy in Hradec Králové Department of Biological and Medical Sciences Candidate: Pavla Koláčková Supervisor: Doc. RNDr. Vladimír Semecký, CSc. Name of dissertation: Sleep disorders - resistant forms The diploma thesis is about sleep disorders. Sleep disorders are a global problem, lots of people have these problems. This diploma thesis focuses on American International Classification of Sleep Disorders (ICSD) and its application in clinical practice...

  6. Personality disorder diagnosis

    OpenAIRE

    Widiger, Thomas A

    2003-01-01

    Every person has a characteristic manner of thinking, feeling, and relating to others. Some of these personality traits can be so dysfunctional as to warrant a diagnosis of personality disorder. The World Health Organization's International Classification of Diseases (ICD- 10) includes ten personality disorder diagnoses. Three issues of particular importance for the diagnosis of personality disorders are their differentiation from other mental disorders, from general persona...

  7. Separation anxiety disorder

    NARCIS (Netherlands)

    Nauta, M.H.; Emmelkamp, P.M.G.; Sturmey, P.; Hersen, M.

    2012-01-01

    Separation anxiety disorder (SAD) is the only anxiety disorder that is specific to childhood; however, SAD has hardly ever been addressed as a separate disorder in clinical trials investigating treatment outcome. So far, only parent training has been developed specifically for SAD. This particular t

  8. Dissociative Identity Disorder

    Science.gov (United States)

    Schmidt, Tom

    2007-01-01

    Few psychological disorders in the Diagnostic Statistical Manual have generated as much controversy as Dissociative Identity Disorder (DID). For the past 35 years diagnoses of DID, previously referred to as Multiple Personality Disorder (MPD), have increased exponentially, causing various psychological researchers and clinicians to question the…

  9. Rare Disorders and Diseases

    Science.gov (United States)

    Umlauf, Mary; Monaco, Jana; FitzZaland, Mary; FitzZaland, Richard; Novitsky, Scott

    2008-01-01

    According to the National Organization for Rare Disorders (NORD), a rare or "orphan" disease affects fewer than 200,000 people in the United States. There are more than 6,000 rare disorders that, taken together, affect approximately 25 million Americans. "Exceptional Parent" ("EP") recognizes that when a disorder affects a child or adult, it…

  10. Diagnosing Sleep Disorders

    Science.gov (United States)

    ... of this page please turn JavaScript on. Feature: Sleep Disorders Diagnosing Sleep Disorders Past Issues / Summer 2015 Table of Contents Depending ... several possible tests when trying to diagnose a sleep disorder: Sleep history and sleep log If you believe ...

  11. Posttraumatic Stress Disorder

    Science.gov (United States)

    ... Choosing the Right Sport for You Shyness Posttraumatic Stress Disorder KidsHealth > For Teens > Posttraumatic Stress Disorder Print A A A What's in this ... But for Jake and other people with posttraumatic stress disorder (PTSD), things are different. When someone has ...

  12. 6: Movement disorders II: the hyperkinetic disorders.

    Science.gov (United States)

    Rice, J E; Thompson, P D

    2001-04-16

    Involuntary movements or hyperkinesias are classified into syndromes of chorea, ballism, tremor, dystonia, myoclonus and tics. The hyperkinesias are caused by disturbances in the circuitry connecting the cerebral cortex, thalamus, basal ganglia and cerebellum. Drugs are a common cause of movement disorders. The aim of management is to characterise the movement disorder, identify and treat the cause or institute symptomatic treatment. The genetic basis of many movement disorders is increasingly recognised. Where there are potential implications for family members, accurate diagnosis and counselling are particularly important.

  13. Developmental disorders of vision.

    Science.gov (United States)

    Galaburda, Albert M; Duchaine, Bradley C

    2003-08-01

    This review of developmental disorders of vision focuses on only a few of the many disorders that disrupt visual development. Given the enormity of the human visual system in the primate brain and complexity of visual development, however, there are likely hundreds or thousands of types of disorders affecting high-level vision. The rapid progress seen in developmental dyslexia and WMS demonstrates the possibilities and difficulties inherent in researching such disorders, and the authors hope that similar progress will be made for congenital prosopagnosia and other disorders in the near future.

  14. Chronobiology and Mood Disorders

    Directory of Open Access Journals (Sweden)

    Yavuz Selvi

    2011-09-01

    Full Text Available Living organizms show cyclic rhythmicity in a variety of physiological, hormonal, behavioral, and psychological processes. Sleep-wake cycles, body temperature, hormone levels, mood and cognition display a circadian rhythm in humans. Delays, advances or desynchronizations of circadian rhythm are known to be strongly associated with mental illness especially mood disorders such as bipolar disorder, major depression and seasonal affective disorder. Furthermore, some of the mood stabilizers, sleep deprivation and light treatment are employed to treat mood disorders by shifting circadian rhythm. This paper reviews the relationship between mood disorders and circadian rhythm, and describes treatment options by altering circadian rhythm.

  15. Mood disorders in Asians.

    Science.gov (United States)

    Yeung, Albert; Chang, Doris

    2014-02-01

    Mood disorders are disorders that have a disturbance in mood as the predominant feature. They are common psychiatric disorders and are associated with significant distress and functional impairment. As the theory of mood disorders is based on the philosophy of mind/body dichotomy in the West, it contradicts the holistic tradition of medicine in the East. This may partially explain why many Asians with mood disorders emphasize their physical symptoms in discussions with their treatment providers. In the development of the DSM and ICD diagnostic systems, it is presumed that the diagnostic categories are applicable to all races and ethnicities. Similarly, many consider pharmacological and psychological treatment approaches to mood disorders universally applicable. To effectively treat Asians with mood disorders, clinicians need to customize biological and psychosocial interventions in consideration of patients' potential genetic and cultural differences.

  16. Perturbatively charged holographic disorder

    CERN Document Server

    O'Keeffe, Daniel K

    2015-01-01

    Within the framework of holography applied to condensed matter physics, we study a model of perturbatively charged disorder in D=4 dimensions. Starting from initially uncharged AdS_4, a randomly fluctuating boundary chemical potential is introduced by turning on a bulk gauge field parameterized by a disorder strength and a characteristic scale k_0. Accounting for gravitational backreaction, we construct an asymptotically AdS solution perturbatively in the disorder strength. The disorder averaged geometry displays unphysical divergences in the deep interior. We explain how to remove these divergences and arrive at a well behaved solution. The disorder averaged DC conductivity is calculated and is found to contain a correction to the AdS result. The correction appears at second order in the disorder strength and scales inversely with k_0. We discuss the extension to a system with a finite initial charge density. The disorder averaged DC conductivity may be calculated by adopting a technique developed for hologr...

  17. Cancer and Psychiatric Disorders

    Directory of Open Access Journals (Sweden)

    Gulcan Gulec

    2011-06-01

    Full Text Available Cancer diagnosis which is used as synonym of “death”, “pain” and “sorrow” leads to a hard-coping period in these patients which requires a rapid intervention. Studies conducted in cancer patients regarding prevalance of psychiatric illnesses reported rates ranging from 9 % to 60%. In many cancer patients, psychiatric disorders can be seen as a reaction to disease or cancer tratment, while in ten precent of cases it can be seen as an aggrevation of premorbid personality disorders or anxiety disorders. Although psychiatric disorders in cancer patients can be treated and by this way, morbidity and mortality of these disorders can be prevented, these disorders are underdiagnosed and not properly treated in many patients. In this article, we briefly reviewed literature about psychiatric disorders and symptoms in cancer patients, their diagnosis and treatment suggestions.

  18. Genetics of bipolar disorder

    Directory of Open Access Journals (Sweden)

    Kerner B

    2014-02-01

    Full Text Available Berit Kerner Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA Abstract: Bipolar disorder is a common, complex genetic disorder, but the mode of transmission remains to be discovered. Many researchers assume that common genomic variants carry some risk for manifesting the disease. The research community has celebrated the first genome-wide significant associations between common single nucleotide polymorphisms (SNPs and bipolar disorder. Currently, attempts are under way to translate these findings into clinical practice, genetic counseling, and predictive testing. However, some experts remain cautious. After all, common variants explain only a very small percentage of the genetic risk, and functional consequences of the discovered SNPs are inconclusive. Furthermore, the associated SNPs are not disease specific, and the majority of individuals with a “risk” allele are healthy. On the other hand, population-based genome-wide studies in psychiatric disorders have rediscovered rare structural variants and mutations in genes, which were previously known to cause genetic syndromes and monogenic Mendelian disorders. In many Mendelian syndromes, psychiatric symptoms are prevalent. Although these conditions do not fit the classic description of any specific psychiatric disorder, they often show nonspecific psychiatric symptoms that cross diagnostic boundaries, including intellectual disability, behavioral abnormalities, mood disorders, anxiety disorders, attention deficit, impulse control deficit, and psychosis. Although testing for chromosomal disorders and monogenic Mendelian disorders is well established, testing for common variants is still controversial. The standard concept of genetic testing includes at least three broad criteria that need to be fulfilled before new genetic tests should be introduced: analytical validity, clinical validity, and clinical utility. These criteria are

  19. Disability in anxiety disorders.

    Science.gov (United States)

    Hendriks, Sanne M; Spijker, Jan; Licht, Carmilla M M; Beekman, Aartjan T F; Hardeveld, Florian; de Graaf, Ron; Batelaan, Neeltje M; Penninx, Brenda W J H

    2014-09-01

    This study compares disability levels between different anxiety disorders and healthy controls. We further investigate the role of anxiety arousal and avoidance behaviour in disability, and whether differences in these symptom patterns contribute to disability differences between anxiety disorders. Data were from 1826 subjects from the Netherlands Study of Depression and Anxiety (NESDA). The Composite Interview Diagnostic Instrument was used to diagnose anxiety disorders. The World Health Organization Disability Assessment Schedule II was used to measure disability in six domains (cognition, mobility, selfcare, social interaction, life activities, participation). Severity of anxiety arousal and avoidance behaviour symptoms was measured using the Beck Anxiety Inventory and the Fear Questionnaire. All anxiety disorders were associated with higher disability. Disability was generally highest in multiple anxiety disorder (e.g. mean disability in cognition=33.7) and social anxiety disorder (mean=32.7), followed by generalized anxiety disorder (mean=27.2) and panic disorder with agoraphobia (mean=26.3), and lowest in panic disorder without agoraphobia (mean=22.1). Anxiety arousal was more associated with disability in life activities (B=8.5, panxiety disorders were not completely explained by anxiety arousal and avoidance behaviour. The cross-sectional study design precludes any causal interpretations. In order to examine the full range of comorbidity among anxiety, a greater range of anxiety disorders would have been preferable. Disability is highest in social anxiety disorder and multiple anxiety disorder. Both anxiety arousal and avoidance behaviour are associated with higher disability levels but do not fully explain the differences across anxiety disorders. Copyright © 2014 Elsevier B.V. All rights reserved.

  20. Gender identity disorder and eating disorders.

    Science.gov (United States)

    Hepp, Urs; Milos, Gabriella

    2002-12-01

    We report three cases of transsexual patients who are suffering from an eating disorder: a biological male patient diagnosed with anorexia nervosa (AN), a biological male patient with bulimia nervosa (BN), and a biological female patient with AN as well as a severe alcohol dependence. The relationship between eating behavior, gender identity, sexual orientation, and body dissatisfaction is discussed. Copyright 2002 by Wiley Periodicals, Inc. Int J Eat Disord 32: 473-478, 2002.

  1. Histrionic personality disorder in women with somatization disorder.

    Science.gov (United States)

    Morrison, J

    1989-01-01

    The clinical distinctions between histrionic personality disorder and somatization disorder have frequently been blurred. In this study, 60 women with somatization disorder were found to have histrionic personality disorder. A DSM-III diagnosis of histrionic personality disorder did not significantly help to improve the diagnosis of somatization disorder. A diagnosis of histrionic personality disorder should stimulate a search for better-validated Axis I diagnoses.

  2. The spreading of disorder.

    Science.gov (United States)

    Keizer, Kees; Lindenberg, Siegwart; Steg, Linda

    2008-12-12

    Imagine that the neighborhood you are living in is covered with graffiti, litter, and unreturned shopping carts. Would this reality cause you to litter more, trespass, or even steal? A thesis known as the broken windows theory suggests that signs of disorderly and petty criminal behavior trigger more disorderly and petty criminal behavior, thus causing the behavior to spread. This may cause neighborhoods to decay and the quality of life of its inhabitants to deteriorate. For a city government, this may be a vital policy issue. But does disorder really spread in neighborhoods? So far there has not been strong empirical support, and it is not clear what constitutes disorder and what may make it spread. We generated hypotheses about the spread of disorder and tested them in six field experiments. We found that, when people observe that others violated a certain social norm or legitimate rule, they are more likely to violate other norms or rules, which causes disorder to spread.

  3. Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Rebecca E. Rosenberg

    2011-01-01

    Full Text Available We used a national online registry to examine variation in cumulative prevalence of community diagnosis of psychiatric comorbidity in 4343 children with autism spectrum disorders (ASD. Adjusted multivariate logistic regression models compared influence of individual, family, and geographic factors on cumulative prevalence of parent-reported anxiety disorder, depression, bipolar disorder, and attention deficit/hyperactivity disorder or attention deficit disorder. Adjusted odds of community-assigned lifetime psychiatric comorbidity were significantly higher with each additional year of life, with increasing autism severity, and with Asperger syndrome and pervasive developmental disorder—not otherwise specified compared with autistic disorder. Overall, in this largest study of parent-reported community diagnoses of psychiatric comorbidity, gender, autistic regression, autism severity, and type of ASD all emerged as significant factors correlating with cumulative prevalence. These findings could suggest both underlying trends in actual comorbidity as well as variation in community interpretation and application of comorbid diagnoses in ASD.

  4. [Pharmacotherapy of Anxiety Disorders].

    Science.gov (United States)

    Zwanzger, P

    2016-05-01

    Anxiety disorders belong to the most frequent psychiatric disorders according to epidemiological studies and are associated with a high economic burden. Panic disorder, generalized anxiety disorder, social anxiety disorder, and specific phobia belong to the most important clinical disorders. The etiology is complex, including genetic, neurobiological as well as psychosocial factors. With regard to treatment, both psychotherapy and medication can be employed according to current treatment guidelines. With regard to psychotherapy, cognitive behavioral therapy (CBT) represents the treatment of choice. As for pharmacological treatment, in particular modern antidepressants and pregabalin are recommended. However, several recommendations have to be considered in daily clinical practice. © Georg Thieme Verlag KG Stuttgart · New York.

  5. [Affective disorders and impulsivity].

    Science.gov (United States)

    Belzeaux, R; Correard, N; Mazzola-Pomietto, P; Adida, M; Cermolacce, M; Azorin, J-M

    2014-12-01

    Impulsivity is a complex and important phenomenon in mood disorders. Impulse control disorders, as defined in DSM, are more frequent in mood disorders especially in Bipolar Disorder type I, and are associated with a more severe course of illness. Dimensional studies demonstrate that impulsivity is a core manifestation of bipolar disorder both as state- and trait-dependent markers in patients. Comorbid substance use disorders are often associated with a higher level of impulsivity whereas the relation between suicidal behaviors and higher impulsivity remains uncertain. Moreover, neuropsychological tests were used to study correlation between clinical impulsivity and laboratory measurements of impulsivity. Level of correlation remains weak and several explanations are proposed in the literature. Copyright © 2014 L’Encéphale. Published by Elsevier Masson SAS.. All rights reserved.

  6. [Gambling disorder in Japan].

    Science.gov (United States)

    Tanabe, Hitoshi

    2015-09-01

    Gambling disorder is a psychiatric disorder characterized by persistent and recurrent problematic gambling behavior, associated with impaired functioning, reduced quality of life, and frequent divorce and bankruptcy. Gambling disorder is reclassified in the category Substance-Related and Addictive Disorders in the DSM-5 because its clinical features closely resemble those of substance use disorders, and gambling activates the reward system in brain in much the same way drugs do. Prevalence of gambling disorder in Japan is high rate because of slot machines and pachinko game are very popular in Japan. The author recommend group psychotherapy and self-help group (Gamblers Anonymous), because group dynamics make them accept their wrongdoings related to gambling and believe that they can enjoy their lives without gambling.

  7. Neuroinflammation in bipolar disorders

    OpenAIRE

    Georgios D. Kotzalidis; Elisa Ambrosi; Alessio Simonetti; Ilaria Cuomo; Antonio Del Casale; Matteo Caloro; Valeria Savoja; Chiara Rapinesi

    2015-01-01

    Recent literature based on peripheral immunity findings speculated that neuroinflammation, with its connection to microglial activation, is linked to bipolar disorder. The endorsement of the neuroinflammatory hypotheses of bipolar disorder requires the demonstration of causality, which requires longitudinal studies. We aimed to review the evidence for neuroinflammation as a pathogenic mechanism of the bipolar disorder. We carried out a hyper inclusive PubMed search using all appropriate neuro...

  8. Congenital imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Netchine, Irène; Temple, I Karen

    2015-01-01

    Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

  9. Eating disorders in adolescence

    OpenAIRE

    JÁGLOVÁ, Štěpánka

    2013-01-01

    The bachelor degree work deals with disorders food intake, in particular, mental anorexia and mental bulimia in maturing period. The theoretical part is aimed at maturing problems and food intake disorders generally. There is characteristics and division of maturing period into early and late adolescence including psychological and physical changes which are typical for this period. Then food intake disorders, their causes, effects and their possible treatment are specified. The aim of the pr...

  10. EATING DISORDERS IN INDIA

    OpenAIRE

    Srinivasan, T.N.; Suresh, T.R.; Jayaram, Vasantha; Fernandez, M. Peter

    1995-01-01

    Data on the nature and extent of major eating disorders, anorexia nervosa and bulimia is lacking in non-white, native populations of the developing world, leaving a gap in understanding the determinants of these disorders. In a study on 210 medical students examined by a two-stage survey method, 31 subjects were found to have distress relating to their eating habits and body size not amounting to criterion-based diagnosis of eating disorders. The characteristics of this eating distress syndro...

  11. From Self-Disorders to Ego Disorders.

    Science.gov (United States)

    Fuchs, Thomas

    2015-01-01

    While the concept of disorders of basic self-experience as the clinical core of schizophrenia spectrum disorders has gained increasing significance and empirical support, several questions remain still unresolved. One major problem is to understand how the basic and prodromal self-disturbances are related to Schneider's first rank symptoms, in particular to the so-called 'ego disorders' found in acute psychotic episodes. The study of the transition from prodromal to first rank symptoms, for example from alienated thoughts to thoughts aloud or thought insertions, is of particular importance for understanding the nature and course of schizophrenia. The paper analyses the emergence of ego disorders from basic self-disorders in phenomenological terms, taking the examples of motor passivity experiences and thought insertion. It is argued that full-blown delusions of alien control are ultimately based on a disturbance of the intentionality of thinking, feeling and acting. This disturbance, for its part, may be traced back to anomalies of self-experience in prodromal stages of schizophrenia.

  12. Mental disorders are not brain disorders.

    Science.gov (United States)

    Banner, Natalie F

    2013-06-01

    As advances in neuroscience and genetics reveal complex associations between brain structures, functions and symptoms of mental disorders, there have been calls for psychiatric classifications to be reconfigured, to conceptualize mental disorders as disorders of the brain. In this paper, I argue that this view is mistaken, and that the level at which we identify mental disorders is, and should be, the person, not the brain. This is not to deny physicalism or argue that the mental realm is somehow distinct from the physical, but rather to suggest the things that are going 'wrong' in mental disorder are picked out at the person-level: they are characterized by breaches in epistemic, rational, evaluative, emotional, social and moral norms. However, as our scientific understanding of the brain becomes advanced, what makes an identified neurobiological difference in brain structure or functioning indicative of pathology is its association with these behaviours at the person-level. Instead of collapsing psychiatry into biomedicine, biomedicine may benefit from drawing closer to the expertise of psychiatry, as it is able to accommodate social, psychological and biological explanations while focusing on the person, within their environment.

  13. Small Intestine Disorders

    Science.gov (United States)

    ... disease Crohn's disease Infections Intestinal cancer Intestinal obstruction Irritable bowel syndrome Ulcers, such as peptic ulcer Treatment of disorders of the small intestine depends on the cause.

  14. Neuromuscular disorders in pregnancy.

    Science.gov (United States)

    Guidon, Amanda C; Massey, E Wayne

    2012-08-01

    Preexisting and coincident neuromuscular disorders in pregnancy are challenging for clinicians because of the heterogeneity of disease and the limited data in the literature. Many questions arise regarding the effect of disease on the pregnancy, delivery, and newborn in addition to the effect of pregnancy on the course of disease. Each disorder has particular considerations and possible complications. An interdisciplinary team of physicians is essential. This article discusses the most recent literature on neuromuscular disorders in pregnancy including acquired root, plexus, and peripheral nerve lesions; acquired and inherited neuropathies and myopathies; disorders of the neuromuscular junction; and motor neuron diseases.

  15. [Schizophrenia and eating disorders].

    Science.gov (United States)

    Foulon, C

    2003-01-01

    The comorbidity of schizophrenia and eating disorders is understudied. In the early nineteenth century, Eugen Bleuler has reported cases of schizophrenia with eating disorders that were related to delusional ideas. Potomania, merycism and pica have often been described in schizophrenic patients. Schizophrenic patients with eating disorders usually do not meet all criteria for typical eating disorders and are therefore classified as "eating disorders not otherwise specified" (EDNOS). It may even be difficult to recognize schizophrenia in patients with eating disorders associated to delusional ideas and distorted cognitions related to food or body perception. In any case, the diagnosis of schizophrenia should preferably be made and is only valid after renutrition is achieved. The prevalence of schizophrenia in samples of patients with eating disorders is generally below 10% but reaches 35% in males, the most frequent form being hebephrenia. Cognitive behavioural therapies for eating disorders need to be adapted in cases of comorbid schizophrenia. The new antipsychotic medications seem helpful in patients with eating disorders with or without schizophrenia. They reduce anxiety towards eating and bring in better adherence to treatments.

  16. Mood and affect disorders.

    Science.gov (United States)

    Tang, Michael H; Pinsky, Elizabeth G

    2015-02-01

    Depressive disorders are common in children and adolescents, with estimates for depressive episodes as high as 18.2% for girls and 7.7% for boys by age 17 years, and are a major cause of morbidity and even mortality. The primary care pediatrician should be able to (1) diagnose depressive disorders and use standardized instruments; (2) ask about suicide, self-harm, homicide, substance use, mania, and psychosis; (3) triage the severity of illness; (4) be aware of the differential diagnosis, including normal development, other depressive disorders, bipolar disorders, and comorbid disorders, such as anxiety and substance use; (5) refer to evidenced-based psychotherapies; (6) prescribe first-line medications; and (7) provide ongoing coordination in a medical home. Pediatric bipolar disorders and the new disruptive mood dysregulation disorder (DMDD) diagnoses are controversial but not uncommon, with prevalence estimates ranging from 0.8% to 4.3% in children at various ages. Although the pediatrician is not likely to be prescribing medications for children with bipolar disorder and DMDD diagnoses, all clinicians should be familiar with common neuroleptics and other mood stabilizers, including important potential adverse effects. Basic management of depressive and bipolar disorders is an important skill for primary care pediatricians.

  17. Postoperative conversion disorder.

    Science.gov (United States)

    Afolabi, Kola; Ali, Sameer; Gahtan, Vivian; Gorji, Reza; Li, Fenghua; Nussmeier, Nancy A

    2016-05-01

    Conversion disorder is a psychiatric disorder in which psychological stress causes neurologic deficits. A 28-year-old female surgical patient had uneventful general anesthesia and emergence but developed conversion disorder 1 hour postoperatively. She reported difficulty speaking, right-hand numbness and weakness, and right-leg paralysis. Neurologic examination and imaging revealed no neuronal damage, herniation, hemorrhage, or stroke. The patient mentioned failing examinations the day before surgery and discontinuing her prescribed antidepressant medication, leading us to diagnose conversion disorder, with eventual confirmation by neuroimaging and follow-up examinations. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. [Movement disorders is psychiatric diseases].

    Science.gov (United States)

    Hidasi, Zoltan; Salacz, Pal; Csibri, Eva

    2014-12-01

    Movement disorders are common in psychiatry. The movement disorder can either be the symptom of a psychiatric disorder, can share a common aetiological factor with it, or can be the consequence of psychopharmacological therapy. Most common features include tic, stereotypy, compulsion, akathisia, dyskinesias, tremor, hypokinesia and disturbances of posture and gait. We discuss characteristics and clinical importance of these features. Movement disorders are frequently present in mood disorders, anxiety disorders, schizophrenia, catatonia, Tourette-disorder and psychogenic movement disorder, leading to differential-diagnostic and therapeutical difficulties in everyday practice. Movement disorders due to psychopharmacotherapy can be classified as early-onset, late-onset and tardive. Frequent psychiatric comorbidity is found in primary movement disorders, such as Parkinson's disease, Wilson's disease, Huntington's disease, diffuse Lewy-body disorder. Complex neuropsychiatric approach is effective concerning overlapping clinical features and spectrums of disorders in terms of movement disorders and psychiatric diseases.

  19. Overview of Cholesterol and Lipid Disorders

    Science.gov (United States)

    ... Fundamentals Heart and Blood Vessel Disorders Hormonal and Metabolic Disorders Immune Disorders Infections Injuries and Poisoning Kidney and ... Fundamentals Heart and Blood Vessel Disorders Hormonal and Metabolic Disorders Immune Disorders Infections Injuries and Poisoning Kidney and ...

  20. The DNA Damage-Binding Protein XPC Is a Frequent Target for Inactivation in Squamous Cell Carcinomas

    OpenAIRE

    de Feraudy, Sebastien; Ridd, Katie; Richards, Lauren M.; Kwok, Pui-Yan; Revet, Ingrid; Oh, Dennis; Feeney, Luzviminda; Cleaver, James E.

    2010-01-01

    XPC, the main damage-recognition protein responsible for nucleotide excision repair of UVB damage to DNA, is lost or mutated in xeroderma pigmentosum group C (XP-C), a rare inherited disease characterized by high incidence and early onset of non-melanoma and melanoma skin cancers. The high incidence of skin cancers in XP-C patients suggests that loss of expression of XPC protein might also provide a selective advantage for initiation and progression of similar cancers in non XP-C patients in ...

  1. DNA synthesis in ataxia telangiectasia

    OpenAIRE

    Jaspers, Nicolaas

    1985-01-01

    textabstractAfter the discovery that cultured cells from AT patients are hypersensitive to ionizing radiation the suggestion was made that AT-could be the 1 X-ray-analogue 1 of xeroderma pigmentosum. The latter syndrome (XP) is characterized by hypersensitivity to short-wave UV-radiation, caused by a reduced ability to properly remove UV-induced DNA damage. The evidence for a DNA repair defect in AT cells is not as strong as in the case of XP (see section 2.2.5 of this thesis). Different XP p...

  2. Shuttling of the autoantigen La between nucleus and cell surface after uv irradiation of human keratinocytes

    Energy Technology Data Exchange (ETDEWEB)

    Bachmann, M.; Chang, S.; Slor, H.; Kukulies, J.; Mueller, W.E. (Universitaet, Mainz (Germany, F.R.))

    1990-12-01

    During the past years we have established that the nuclear autoantigen La shuttles between the nucleus and the cytoplasm in tumor cells after inhibition of transcription or virus infection. We reinvestigated this shuttling using primary human keratinocytes from both healthy donors and patients with xeroderma pigmentosum. Ultraviolet irradiation resulted in both an inhibition of transcription and a translocation of La protein from the nucleus to the cytoplasm. After a prolonged inhibition of transcription La protein relocated into the nucleus and assembled with nuclear storage regions. The uv-induced shuttling included a translocation to the cell surface, where La protein colocalized with epidermal growth factor receptors.

  3. RNF111/Arkadia is a SUMO-targeted ubiquitin ligase that facilitates the DNA damage response

    DEFF Research Database (Denmark)

    Poulsen, Sara L; Hansen, Rebecca K; Wagner, Sebastian A

    2013-01-01

    )-induced SUMOylation and ubiquitylation. Moreover, we show that RNF111 facilitated NER by regulating the recruitment of XPC to UV-damaged DNA. Our findings establish RNF111 as a new STUbL that directly links nonproteolytic ubiquitylation and SUMOylation in the DNA damage response....... nonproteolytic, K63-linked ubiquitylation of SUMOylated target proteins. We demonstrate that RNF111 promoted ubiquitylation of SUMOylated XPC (xeroderma pigmentosum C) protein, a central DNA damage recognition factor in nucleotide excision repair (NER) extensively regulated by ultraviolet (UV...

  4. Autism Spectrum Disorder (ASD)

    Science.gov (United States)

    ... Español (Spanish) Recommend on Facebook Tweet Share Compartir Autism spectrum disorder (ASD) is a developmental disability that can cause ... factors that may put children at risk for autism spectrum disorder (ASD) and other developmental disabilities. More E-mail ...

  5. Eosinophilic Disorders Glossary

    Science.gov (United States)

    ... psychologic components. Anorexia Nervosa A psychological disorder of body image in which the individual feels overweight regardless of actual weight. Persons affected by this disorder have a fear of gaining weight and may use excessive exercise, laxatives and/or skipping of meals in order ...

  6. Temperament and Attachment Disorders

    Science.gov (United States)

    Zeanah, Charles H.; Fox, Nathan A.

    2004-01-01

    Reviewed in this article is research on children with reactive attachment disorder (RAD) who exhibit specific patterns of socially aberrant behavior resulting from being maltreated or having limited opportunities to form selective attachments. There are no data explaining why 2 different patterns of the disorder, an emotionally withdrawn-inhibited…

  7. Clindamycin and taste disorders

    NARCIS (Netherlands)

    de Groot, Mark C H; van Puijenbroek, Eugène P

    2007-01-01

    AIMS: Topical use of clindamycin has been associated with taste disorders in the literature, but little is known about the nature of this adverse drug reaction. The aim of this article was to describe reports of clindamycin-induced taste disorders and to analyse the factors involved. METHODS: The ad

  8. Epigenetics and eating disorders

    NARCIS (Netherlands)

    Pjetri, Eneda; Schmidt, Ulrike; Kas, Martien J; Campbell, Iain C

    2012-01-01

    PURPOSE OF REVIEW: Eating disorders are complex psychiatric disorders in which genes, environment, and gene-environment interactions (G×E) have a role. Such G×E may occur in adulthood or during development. They may also be modified by factors such as (mal)nutrition or stress and this may result in

  9. Related Addictive Disorders.

    Science.gov (United States)

    Buck, Tina; Sales, Amos

    This paper provides an overview of addiction related to substance abuse. It provides basic information, prevalence, diagnostic criteria, assessment tools, and treatment issues for eating disorders, compulsive gambling, sex addictions, and work addictions. Eating disorders such as anorexia nervosa and bulimia nervosa, especially affect adolescents.…

  10. Boys with Eating Disorders

    Science.gov (United States)

    Hatmaker, Grace

    2005-01-01

    Although commonly associated with girls and women, eating disorders do not discriminate. School nurses need to be aware that male students also can suffer from the serious health effects of anorexia nervosa, bulimia, anorexia athletica, and eating disorders not otherwise specified. Sports that focus on leanness and weight limits can add to a…

  11. Disorders of visual perception

    NARCIS (Netherlands)

    Ffytche, Dominic H.; Blom, J. D.; Catani, M.

    2010-01-01

    Visual perceptual disorders are often presented as a disparate group of neurological deficits with little consideration given to the wide range of visual symptoms found in psychiatric and neurodevelopmental disease. Here, the authors attempt a functional anatomical classification of all disorders

  12. Immune Disorder HSCT Protocol

    Science.gov (United States)

    2016-11-01

    Immune Deficiency Disorders; Severe Combined Immunodeficiency; Chronic Granulomatous Disease; X-linked Agammaglobulinemia; Wiskott-Aldrich Syndrome; Hyper-IgM; DiGeorge Syndrome; Chediak-Higashi Syndrome; Common Variable Immune Deficiency; Immune Dysregulatory Disorders; Hemophagocytic Lymphohistiocytosis; IPEX; Autoimmune Lymphoproliferative Syndrome; X-linked Lymphoproliferative Syndrome

  13. Disorders of visual perception

    NARCIS (Netherlands)

    Ffytche, Dominic H.; Blom, J. D.; Catani, M.

    2010-01-01

    Visual perceptual disorders are often presented as a disparate group of neurological deficits with little consideration given to the wide range of visual symptoms found in psychiatric and neurodevelopmental disease. Here, the authors attempt a functional anatomical classification of all disorders li

  14. Posttraumatic functional movement disorders.

    Science.gov (United States)

    Ganos, C; Edwards, M J; Bhatia, K P

    2017-01-01

    Traumatic injury to the nervous system may account for a range of neurologic symptoms. Trauma location and severity are important determinants of the resulting symptoms. In severe head injury with structural brain abnormalities, the occurrence of trauma-induced movement disorders, most commonly hyperkinesias such as tremor and dystonia, is well recognized and its diagnosis straightforward. However, the association of minor traumatic events, which do not lead to significant persistent structural brain damage, with the onset of movement disorders is more contentious. The lack of clear clinical-neuroanatomic (or symptom lesion) correlations in these cases, the variable timing between traumatic event and symptom onset, but also the presence of unusual clinical features in a number of such patients, which overlap with signs encountered in patients with functional neurologic disorders, contribute to this controversy. The purpose of this chapter is to provide an overview of the movement disorders, most notably dystonia, that have been associated with peripheral trauma and focus on their unusual characteristics, as well as their overlap with functional neurologic disorders. We will then provide details on pathophysiologic views that relate minor peripheral injuries to the development of movement disorders and compare them to knowledge from primary organic and functional movement disorders. Finally, we will comment on the appropriate management of these disorders.

  15. Fetal Alcohol Spectrum Disorder

    Science.gov (United States)

    Caley, Linda M.; Kramer, Charlotte; Robinson, Luther K.

    2005-01-01

    Fetal alcohol spectrum disorder (FASD) is a serious and widespread problem in this country. Positioned within the community with links to children, families, and healthcare systems, school nurses are a critical element in the prevention and treatment of those affected by fetal alcohol spectrum disorder. Although most school nurses are familiar…

  16. Paralympics and conversion disorder

    National Research Council Canada - National Science Library

    David, Anthony S

    ...' for whose disorders are the most stigmatised. Psychiatry has a strong claim on this with mental illness generally regarded as among the most feared and least understood. 1 And within psychiatry there is a similar hierarchy such that patients with 'hysteria' or conversion disorder (CD) are those found to be least satisfying to treat and are least like...

  17. Childhood disintegrative disorder

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik

    2003-01-01

    are sometimes associated with this disorder, but contrary to earlier belief this is not typical. Interest in childhood disintegrative disorder has increased markedly in recent years and in this review attention is given to more recently published cases based on ICD-9, ICD-10 and DSM-IV diagnostic systems...

  18. Autoimmune autonomic disorders.

    Science.gov (United States)

    Mckeon, Andrew; Benarroch, Eduardo E

    2016-01-01

    Autoimmune autonomic disorders occur because of an immune response directed against sympathetic, parasympathetic, and enteric ganglia, autonomic nerves, or central autonomic pathways. In general, peripheral autoimmune disorders manifest with either generalized or restricted autonomic failure, whereas central autoimmune disorders manifest primarily with autonomic hyperactivity. Some autonomic disorders are generalized, and others are limited in their anatomic extent, e.g., isolated gastrointestinal dysmotility. Historically, these disorders were poorly recognized, and thought to be neurodegenerative. Over the last 20 years a number of autoantibody biomarkers have been discovered that have enabled the identification of certain patients as having an autoimmune basis for either autonomic failure or hyperactivity. Peripheral autoimmune autonomic disorders include autoimmune autonomic ganglionopathy (AAG), paraneoplastic autonomic neuropathy, and acute autonomic and sensory neuropathy. AAG manifests with acute or subacute onset of generalized or selective autonomic failure. Antibody targeting the α3 subunit of the ganglionic-type nicotinic acetylcholine receptor (α3gAChR) is detected in approximately 50% of cases of AAG. Some other disorders are characterized immunologically by paraneoplastic antibodies with a high positive predictive value for cancer, such as antineuronal nuclear antibody, type 1 (ANNA-1: anti-Hu); others still are seronegative. Recognition of an autoimmune basis for autonomic disorders is important, as their manifestations are disabling, may reflect an underlying neoplasm, and have the potential to improve with a combination of symptomatic and immune therapies.

  19. Electrodiagnosis of myotonic disorders.

    Science.gov (United States)

    Hehir, Michael K; Logigian, Eric L

    2013-02-01

    Clinical and electrical myotonia is caused by a small group of neuromuscular disorders. This article reviews myotonia and its differential diagnosis. The use of electrodiagnostic testing to evaluate the primary myotonic disorders (myotonic dystrophy and the nondystrophic myotonias) is also discussed.

  20. Genomics in Neurological Disorders

    Institute of Scientific and Technical Information of China (English)

    Guangchun Han; Jiya Sun; Jiajia Wang; Zhouxian Bai; Fuhai Song; Hongxing Lei

    2014-01-01

    Neurological disorders comprise a variety of complex diseases in the central nervous system, which can be roughly classified as neurodegenerative diseases and psychiatric disorders. The basic and translational research of neurological disorders has been hindered by the difficulty in accessing the pathological center (i.e., the brain) in live patients. The rapid advancement of sequencing and array technologies has made it possible to investigate the disease mechanism and biomarkers from a systems perspective. In this review, recent progresses in the discovery of novel risk genes, treatment targets and peripheral biomarkers employing genomic technologies will be dis-cussed. Our major focus will be on two of the most heavily investigated neurological disorders, namely Alzheimer’s disease and autism spectrum disorder.

  1. Skin picking disorder.

    Science.gov (United States)

    Grant, Jon E; Odlaug, Brian L; Chamberlain, Samuel R; Keuthen, Nancy J; Lochner, Christine; Stein, Dan J

    2012-11-01

    Although skin picking has been documented in the medical literature since the 19th century, only now is it receiving serious consideration as a DSM psychiatric disorder in discussions for DSM-5. Recent community prevalence studies suggest that skin picking disorder appears to be as common as many other psychiatric disorders, with reported prevalences ranging from 1.4% to 5.4%. Clinical evaluation of patients with skin picking disorder entails a broad physical and psychiatric examination, encouraging an interdisciplinary approach to evaluation and treatment. Approaches to treatment should include cognitive-behavioral therapy (including habit reversal or acceptance-enhanced behavior therapy) and medication (serotonin reuptake inhibitors, N-acetylcysteine, or naltrexone). Based on clinical experience and research findings, the authors recommend several management approaches to skin picking disorder.

  2. Genetics and delusional disorder.

    Science.gov (United States)

    Cardno, Alastair G; McGuffin, Peter

    2006-01-01

    This article gives an overview of genetic research approaches and their application to delusional disorder. Most studies have been based on small samples and have had other methodological limitations, so it is not clear whether there is a genetic contribution to the aetiology of delusional disorder. It is unlikely that delusional disorder is strongly related genetically to affective disorder or schizophrenia, but more subtle relationships cannot be ruled out. The rarity of multiply affected families prohibits linkage studies and, to date, molecular genetic investigations have been mainly limited to small association studies of dopamine receptor polymorphisms. A range of considerably larger, epidemiologically rigorous studies is required, but the uncommonness and other features of the disorder put strong limitations on the prospects for ascertaining adequate samples.

  3. Neurobiology of psychiatric disorders

    Directory of Open Access Journals (Sweden)

    Đokić Gorica

    2015-01-01

    Full Text Available Neurobiologically spoken, the supstrate of the mind is formed by neuronal networks, and dysregulated neurocircuitry can cause psychiatric disorders. Psychiatric disorders are diagnosed by symptom clusters that are the result of abnormal brain tissue, and/or activity in specialized areas of the brain. Dysregulated circuitry results from abnormal neural function, or abnormal neural connections from one brain area to another, which leads to neurotransmitter imbalances. Each psychiatric disorder has uniquely dysregulated circuitry and thereby unique neurotransmitter imbalance, such as: prefrontal cortical-limbic pathways in depression or prefrontal cortical-striatal pathways in schizophrenia ie. serotonin-norepinephrin-dopamin imbalance in depression, or dopamine hyperactivity in schizophrenia. Biological psychiatry has completely changed the farmacological treatment of psychiatric disorders, and new foundings in that field are supportive to futher more neuropsychopharmacological and nonpharmacological therapy studies, whish has as a result more safe and effective therapy for psychiatric disorders.

  4. Affective disorders among patients with borderline personality disorder.

    Directory of Open Access Journals (Sweden)

    Hege Nordem Sjåstad

    Full Text Available BACKGROUND: The high co-occurrence between borderline personality disorder and affective disorders has led many to believe that borderline personality disorder should be considered as part of an affective spectrum. The aim of the present study was to examine whether the prevalence of affective disorders are higher for patients with borderline personality disorder than for patients with other personality disorders. METHODS: In a national cross-sectional study of patients receiving mental health treatment in Norway (N = 36 773, we determined whether psychiatric outpatients with borderline personality disorder (N = 1 043 had a higher prevalence of affective disorder in general, and whether they had an increased prevalence of depression, bipolar disorder or dysthymia specifically. They were compared to patients with paranoid, schizoid, dissocial, histrionic, obsessive-compulsive, avoidant, dependent, or unspecified personality disorder, as well as an aggregated group of patients with personality disorders other than the borderline type (N = 2 636. Odds ratios were computed for the borderline personality disorder group comparing it to the mixed sample of other personality disorders. Diagnostic assessments were conducted in routine clinical practice. RESULTS: More subjects with borderline personality disorder suffered from unipolar than bipolar disorders. Nevertheless, borderline personality disorder had a lower rate of depression and dysthymia than several other personality disorder groups, whereas the rate of bipolar disorder tended to be higher. Odds ratios showed 34% lower risk for unipolar depression, 70% lower risk for dysthymia and 66% higher risk for bipolar disorder in patients with borderline personality disorder compared to the aggregated group of other personality disorders. CONCLUSIONS: The results suggest that borderline personality disorder has a stronger association with affective disorders in the bipolar spectrum than

  5. Conduct disorders as a result of specific learning disorders

    OpenAIRE

    2012-01-01

    This thesis focuses on relationship between specific learning disorders and conduct disorders in puberty. The theoretical part explains the basic terms apearing in the thesis such as specific learning disorders, conduct disorders, puberty and prevention of conduct disorder formation. It presents Czech and foreign research which have already been done in this and related areas. The empirical part uses a quantitative method to measure anxiety and occurrence of conduct disorders in second grade ...

  6. Affective Disorders among Patients with Borderline Personality Disorder

    Science.gov (United States)

    Sjåstad, Hege Nordem; Gråwe, Rolf W.; Egeland, Jens

    2012-01-01

    Background The high co-occurrence between borderline personality disorder and affective disorders has led many to believe that borderline personality disorder should be considered as part of an affective spectrum. The aim of the present study was to examine whether the prevalence of affective disorders are higher for patients with borderline personality disorder than for patients with other personality disorders. Methods In a national cross-sectional study of patients receiving mental health treatment in Norway (N = 36 773), we determined whether psychiatric outpatients with borderline personality disorder (N = 1 043) had a higher prevalence of affective disorder in general, and whether they had an increased prevalence of depression, bipolar disorder or dysthymia specifically. They were compared to patients with paranoid, schizoid, dissocial, histrionic, obsessive-compulsive, avoidant, dependent, or unspecified personality disorder, as well as an aggregated group of patients with personality disorders other than the borderline type (N = 2 636). Odds ratios were computed for the borderline personality disorder group comparing it to the mixed sample of other personality disorders. Diagnostic assessments were conducted in routine clinical practice. Results More subjects with borderline personality disorder suffered from unipolar than bipolar disorders. Nevertheless, borderline personality disorder had a lower rate of depression and dysthymia than several other personality disorder groups, whereas the rate of bipolar disorder tended to be higher. Odds ratios showed 34% lower risk for unipolar depression, 70% lower risk for dysthymia and 66% higher risk for bipolar disorder in patients with borderline personality disorder compared to the aggregated group of other personality disorders. Conclusions The results suggest that borderline personality disorder has a stronger association with affective disorders in the bipolar spectrum than disorders in the unipolar

  7. Screening for Generalized Anxiety Disorder (GAD)

    Science.gov (United States)

    ... Disorder Specific Phobias Obsessive-Compulsive Disorder (OCD) Posttraumatic Stress Disorder (PTSD) Depression Bipolar Disorder Suicide and Prevention Stress Related Illnesses Myth-Conceptions Find ...

  8. Screening for Obsessive-Compulsive Disorder (OCD)

    Science.gov (United States)

    ... Disorder Specific Phobias Obsessive-Compulsive Disorder (OCD) Posttraumatic Stress Disorder (PTSD) Depression Bipolar Disorder Suicide and Prevention Stress Related Illnesses Myth-Conceptions Find ...

  9. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Weeda, G.; Donker, I.; Vermeulen, W. [Erasmus Univ., Rotterdam (Netherlands)] [and others

    1997-02-01

    Trichothiodystrophy (TTD) is a rare, autosomal recessive disorder characterized by sulfur-deficient brittle hair and nails, mental retardation, impaired sexual development, and ichthyosis. Photosensitivity has been reported in {approximately}50% of the cases, but no skin cancer is associated with TTD. Virtually all photosensitive TTD patients have a deficiency in the nucleotide excision repair (NER) of UV-induced DNA damage that is indistinguishable from that of xeroderma pigmentosum (XP) complementation group D (XP-D) patients. DNA repair defects in XP-D are associated with two additional, quite different diseases; XP, a sun-sensitive and cancer-prone repair disorder, and Cockayne syndrome (CS), a photosensitive condition characterized by physical and mental retardation and wizened facial appearance. One photosensitive TTD case constitutes a new repair-deficient complementation group, TTD-A. Remarkably, both TTD-A and XP-D defects are associated with subunits of TFIIH, a basal transcription factor with a second function in DNA repair. Thus, mutations in TFIIH components may, on top of a repair defect, also cause transcriptional insufficiency, which may explain part of the non-XP clinical features of TTD. To date, three patients with the remarkable conjunction of XP and CS but not TM have been assigned to XP complementation group B (XP-B). Here we present the characterization of the NER defect in two mild TTD patients (TTD6VI and TTD4VI) and confirm the assignment to X-PB. The causative mutation was found to be a single base substitution resulting in a missense mutation (T119P) in a region of the XPB protein. These findings define a third TTD complementation group, extend the clinical heterogeneity associated with XP-B, stress the exclusive relationship between TTD and mutations in subunits of repair/transcription factor TFIIH, and strongly support the concept of {open_quotes}transcription syndromes.{close_quotes} 46 refs., 6 figs., 2 tabs.

  10. The DNA repair endonuclease XPG interacts directly and functionally with the WRN helicase defective in Werner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Trego, Kelly S.; Chernikova, Sophia B.; Davalos, Albert R.; Perry, J. Jefferson P.; Finger, L. David; Ng, Cliff; Tsai, Miaw-Sheue; Yannone, Steven M.; Tainer, John A.; Campisi, Judith; Cooper, Priscilla K.

    2011-04-20

    XPG is a structure-specific endonuclease required for nucleotide excision repair (NER). XPG incision defects result in the cancer-prone syndrome xeroderma pigmentosum, whereas truncating mutations of XPG cause the severe postnatal progeroid developmental disorder Cockayne syndrome. We show that XPG interacts directly with WRN protein, which is defective in the premature aging disorder Werner syndrome, and that the two proteins undergo similar sub-nuclear redistribution in S-phase and co-localize in nuclear foci. The co-localization was observed in mid- to late-S-phase, when WRN moves from nucleoli to nuclear foci that have been shown to contain protein markers of both stalled replication forks and telomeric proteins. We mapped the interaction between XPG and WRN to the C-terminal domains of each and show that interaction with the C-terminal domain of XPG strongly stimulates WRN helicase activity. WRN also possesses a competing DNA single-strand annealing activity that, combined with unwinding, has been shown to coordinate regression of model replication forks to form Holliday junction/chicken foot intermediate structures. We tested whether XPG stimulated WRN annealing activity and found that XPG itself has intrinsic strand annealing activity that requires the unstructured R- and C-terminal domains, but not the conserved catalytic core or endonuclease activity. Annealing by XPG is cooperative, rather than additive, with WRN annealing. Taken together, our results suggest a novel function for XPG in S-phase that is at least in part carried out coordinately with WRN, and which may contribute to the severity of the phenotypes that occur upon loss of XPG.

  11. Cardiomyopathy in neurological disorders.

    Science.gov (United States)

    Finsterer, Josef; Stöllberger, Claudia; Wahbi, Karim

    2013-01-01

    According to the American Heart Association, cardiomyopathies are classified as primary (solely or predominantly confined to heart muscle), secondary (those showing pathological myocardial involvement as part of a neuromuscular disorder) and those in which cardiomyopathy is the first/predominant manifestation of a neuromuscular disorder. Cardiomyopathies may be further classified as hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, or unclassified cardiomyopathy (noncompaction, Takotsubo-cardiomyopathy). This review focuses on secondary cardiomyopathies and those in which cardiomyopathy is the predominant manifestation of a myopathy. Any of them may cause neurological disease, and any of them may be a manifestation of a neurological disorder. Neurological disease most frequently caused by cardiomyopathies is ischemic stroke, followed by transitory ischemic attack, syncope, or vertigo. Neurological disease, which most frequently manifests with cardiomyopathies are the neuromuscular disorders. Most commonly associated with cardiomyopathies are muscular dystrophies, myofibrillar myopathies, congenital myopathies and metabolic myopathies. Management of neurological disease caused by cardiomyopathies is not at variance from the same neurological disorders due to other causes. Management of secondary cardiomyopathies is not different from that of cardiomyopathies due to other causes either. Patients with neuromuscular disorders require early cardiologic investigations and close follow-ups, patients with cardiomyopathies require neurological investigation and avoidance of muscle toxic medication if a neuromuscular disorder is diagnosed. Which patients with cardiomyopathy profit most from primary stroke prevention is unsolved and requires further investigations. Copyright © 2013 Elsevier Inc. All rights reserved.

  12. Epilepsy and Mood Disorders

    Directory of Open Access Journals (Sweden)

    Sermin Kesebir

    2012-03-01

    Full Text Available Mood disorders are the most common psychiatric comorbid disorder that affects quality of life and prognosis in epilepsy. The relation between depression and epilepsy is bidirectional. Not only the risk of having a depression among epilepsy cases is more than the healthy control cases, but also the risk of having epilepsy among depressive cases is more than the healthy control cases. People diagnosed with epilepsy are five times more likely than their peers to commit suicide. Moreover it seems that some epilepsy types like temporal lobe epilepsy have a much higher risk (25 times for suicide. Risk of suicide in epilepsy, which is independent from depression, increases more with the presence of depression. The common pathway between epilepsy, depression and suicide is hypofrontality and irregularity of serotonin metabolism. Contrary to depression, data on relationship between bipolar disorder and epilepsy is limited. However, mood disorder, mixed episodes with irritable character and mania are more frequent than assumed. As a matter of fact, both disorders share some common features. Both are episodic and can become chronic. Kindling phenomenon, irregularities in neurotransmitters, irregularities in voltage gate ion channels and irregularities in secondary messenger systems are variables that are presented in the etiologies of both disorders. Anticonvulsant drugs with mood regulatory effects are the common points of treatment. Understanding their mechanisms of action will clarify the pathophysiological processes. In this article, the relationhip between epilepsy and mood disorders, comorbidity, secondary states and treatment options in both cases have been discussed.

  13. Circadian rhythm sleep disorders

    Directory of Open Access Journals (Sweden)

    Morgenthaler TI

    2012-05-01

    Full Text Available Bhanu P Kolla,1,2 R Robert Auger,1,2 Timothy I Morgenthaler11Mayo Center for Sleep Medicine, 2Department of Psychiatry and Psychology, Mayo Clinic College of Medicine, Rochester, MN, USAAbstract: Misalignment between endogenous circadian rhythms and the light/dark cycle can result in pathological disturbances in the form of erratic sleep timing (irregular sleep–wake rhythm, complete dissociation from the light/dark cycle (circadian rhythm sleep disorder, free-running type, delayed sleep timing (delayed sleep phase disorder, or advanced sleep timing (advanced sleep phase disorder. Whereas these four conditions are thought to involve predominantly intrinsic mechanisms, circadian dysrhythmias can also be induced by exogenous challenges, such as those imposed by extreme work schedules or rapid transmeridian travel, which overwhelm the ability of the master clock to entrain with commensurate rapidity, and in turn impair approximation to a desired sleep schedule, as evidenced by the shift work and jet lag sleep disorders. This review will focus on etiological underpinnings, clinical assessments, and evidence-based treatment options for circadian rhythm sleep disorders. Topics are subcategorized when applicable, and if sufficient data exist. The length of text associated with each disorder reflects the abundance of associated literature, complexity of management, overlap of methods for assessment and treatment, and the expected prevalence of each condition within general medical practice.Keywords: circadian rhythm sleep disorders, assessment, treatment

  14. Addictive eating disorders.

    Science.gov (United States)

    Flood, M

    1989-03-01

    Addictive eating disorders have been a part of history and have only recently been recognized as psychiatric disorders. Increased publicity has enabled family and friends of eating disordered individuals to recognize the disease and seek help for them from trained medical professionals. Everyone is "at risk," but certain subpopulations have been "coming out of the closet" in epidemic proportions. An ever-increasing number of high school-aged and college-aged females have developed some form of eating disorder, from fad diets to self-induced vomiting. In these individuals, the obsession with thinness takes priority over family, friends, schoolwork, or career. Strangely enough, the eating disordered person's addiction is not to food but to the feeling of numbness her behavior brings. Over time, the need to control is desperately sought and many patients transfer their obsession to other patterns of self-abuse. Nursing intervention should include setting the appropriate example in terms of the professional's relationship with food, while providing much needed emotional support. An innovative method of intervention available to nursing professionals includes the use of creative, visual imagery to repeatedly diffuse fear and anxiety about food until a level of personal autonomy over the disorder and other emotional concerns is achieved. Therefore, a system of recovery can be designed for the anorectic or bulimic patient and the experience of recovery from the eating disorder can be a lifelong process of personal growth.

  15. Autoimmune movement disorders.

    Science.gov (United States)

    Mckeon, Andrew; Vincent, Angela

    2016-01-01

    Autoimmune movement disorders encapsulate a large and diverse group of neurologic disorders occurring either in isolation or accompanying more diffuse autoimmune encephalitic illnesses. The full range of movement phenomena has been described and, as they often occur in adults, many of the presentations can mimic neurodegenerative disorders, such as Huntington disease. Disorders may be ataxic, hypokinetic (parkinsonism), or hyperkinetic (myoclonus, chorea, tics, and other dyskinetic disorders). The autoantibody targets are diverse and include neuronal surface proteins such as leucine-rich, glioma-inactivated 1 (LGI1) and glycine receptors, as well as antibodies (such as intracellular antigens) that are markers of a central nervous system process mediated by CD8+ cytotoxic T cells. However, there are two conditions, stiff-person syndrome (also known as stiff-man syndrome) and progressive encephalomyelitis with rigidity and myoclonus (PERM), that are always autoimmune movement disorders. In some instances (such as Purkinje cell cytoplasmic antibody-1 (PCA-1) autoimmunity), antibodies detected in serum and cerebrospinal fluid can be indicative of a paraneoplastic cause, and may direct the cancer search. In other instances (such as 65kDa isoform of glutamic acid decarboxylase (GAD65) autoimmunity), a paraneoplastic cause is very unlikely, and early treatment with immunotherapy may promote improvement or recovery. Here we describe the different types of movement disorder and the clinical features and antibodies associated with them, and discuss treatment.

  16. Neuroinflammation in bipolar disorders

    Directory of Open Access Journals (Sweden)

    Georgios D Kotzalidis

    2015-01-01

    Full Text Available Recent literature based on peripheral immunity findings speculated that neuroinflammation, with its connection to microglial activation, is linked to bipolar disorder. The endorsement of the neuroinflammatory hypotheses of bipolar disorder requires the demonstration of causality, which requires longitudinal studies. We aimed to review the evidence for neuroinflammation as a pathogenic mechanism of the bipolar disorder. We carried out a hyper inclusive PubMed search using all appropriate neuroinflammation-related terms and crossed them with bipolar disorder-related terms. The search produced 310 articles and the number rose to 350 after adding articles from other search engines and reference lists. Twenty papers were included that appropriately tackled the issue of the presence (but not of its pathophysiological role of neuroinflammation in bipolar disorder. Of these, 15 were postmortem and 5 were carried out in living humans. Most articles were consistent with the presence of neuroinflammation in bipolar disorder, but factors such as treatment may mask it. All studies were cross-sectional, preventing causality to be inferred. Thus, no inference can be currently made about the role of neuroinflammation in bipolar disorder, but a link is likely. The issue remains little investigated, despite an excess of reviews on this topic.

  17. Personality Disorders in patients with disorders in eating behaviors

    Directory of Open Access Journals (Sweden)

    Vanesa Carina Góngora

    2016-02-01

    Full Text Available The interest for the systematic study of personality disorder in patients with eating disorders starts in 1980 with the edition of the DSM III multiaxial classification system. Since then, several publications have been focused on the prevalence and the effect on treatment of personality disorders in bulimic and anorexic patients. These researches showed inconsistent results due to conceptual and methodological divergences. In this paper, the more relevant findings of these studies are presented and the possible sources of discrepancy are analyzed. In general, there is a moderate comorbidity between personality disorders and eating disorders. The most frequent disorders are borderline, histrionic, obsessive-compulsive, dependent and avoidant personality disorders. Borderline and histrionic personality disorders are more frequently associated with bulimia, whereas avoidant and obsessive- compulsive personality disorders are more characteristic of anorexia nervosa. Nevertheless, the effect of the relationship between eating disorders and personality disorders in treatment remains uncertain, giving raise to several controversies and researches. 

  18. Bipolar disorder and aggression.

    Science.gov (United States)

    Látalová, K

    2009-06-01

    In clinical practice, overt aggressive behaviour is frequently observed in patients diagnosed with bipolar disorder. It can be dangerous and complicates patient care. Nevertheless, it has not been adequately studied as a phenomenon that is separate from other symptoms such as agitation. The aim of this review is to provide information on the prevalence, clinical context, and clinical management of aggression in patients with bipolar disorder. MEDLINE and PsycInfo data bases were searched for articles published between 1966 and November 2008 using the combination of key words 'aggression' or 'violence' with 'bipolar disorder'. For the treatment searches, generic names of mood stabilisers and antipsychotics were used in combination with key words 'bipolar disorder' and 'aggression'. No language constraint was applied. Articles dealing with children and adolescents were not included. Acutely ill hospitalised bipolar patients have a higher risk for aggression than other inpatients. In a population survey, the prevalence of aggressive behaviour after age 15 years was 0.66% in persons without lifetime psychiatric disorder, but 25.34% in bipolar I disorder. Comorbidity with personality disorders and substance use disorders is frequent, and it elevates the risk of aggression in bipolar patients. Impulsive aggression appears to be the most frequent subtype observed in bipolar patients. Clinical management of aggression combines pharmacological and non-pharmacological approaches. A major problem with the evidence is that aggression is frequently reported only as one of the items contributing to the total score on a scale or a subscale. This makes it impossible to ascertain specifically aggressive behaviour. Large controlled head-to-head randomised controlled studies comparing treatments for aggressive behaviour in bipolar disorder are not yet available. There is some evidence favouring divalproex, but it is not particularly strong .We do not know if there are any efficacy

  19. Kinetics of tetrataenite disordering

    Energy Technology Data Exchange (ETDEWEB)

    Dos Santos, E., E-mail: edisanfi@cbpf.br [Centro Brasileiro de Pesquisas Físicas, Rio de Janeiro (Brazil); Gattacceca, J.; Rochette, P. [Centre Européen de Recherche et d’Enseignement des Géosciences de l’Environnement, UM34, CNRS/Aix-Marseille University, Aix-en-Provence (France); Fillion, G. [Laboratoire National des Champs Magnétiques Intenses (LNCMI), CNRS, UJF, 38042 Grenoble (France); Scorzelli, R.B. [Centro Brasileiro de Pesquisas Físicas, Rio de Janeiro (Brazil)

    2015-02-01

    Tetrataenite is a chemically ordered L1{sub 0}-type Fe{sub 50}Ni{sub 50} alloy detected for the first time in 1977 by {sup 57}Fe Mössbauer spectroscopy studies in iron meteorites. The thermal history of meteorites, in particular short thermal events like those associated to hypervelocity impacts, can be constrained by tracing the presence of tetrataenite or its disordering into taenite. The knowledge of the disordering kinetics of tetrataenite, that is associated with changes in its magnetic properties, is still very fragmentary so that the time–temperature history of these meteorites cannot be constrained in details. Furthermore, knowledge of disordering kinetics is important due to potential technological application of tetrataenite as a rare-earth free strong magnet. Thus, this work provides the first time–temperature data for disordering reaction of tetrataenite. We have shown that disordering is not an instantaneous process but is a kinetic limited reaction. It was shown that disordering may take place at any temperature above the order–disorder transition for L{sub 10} superstructure phase (∼320 °C) when the appropriate time-scale is considered. This result means that the apparent Curie point for tetrataenite is not an absolute property in the sense that any estimate of this parameter should be referred to a given time-scale. - Highlights: • The first time–temperature data for tetrataenite disordering reaction is provided. • Previous works does not give a complete picture of tetrataenite disordering. • Apparent Curie temperature of tetrataenite should be referred to a time-scale. • Tetrataenite can be used as a probe to detect thermal/shock events recorded in meteorites.

  20. The cerebellum and psychiatric disorders

    Directory of Open Access Journals (Sweden)

    Joseph ePhillips

    2015-05-01

    Full Text Available The cerebellum has been considered for a long time to play a role solely in motor coordination. However, studies over the past two decades have shown that the cerebellum also plays a key role in many motor, cognitive, and emotional processes. In addition, studies have also shown that the cerebellum is implicated in many psychiatric disorders including attention deficit hyperactivity disorder, autism spectrum disorders, schizophrenia, bipolar disorder, major depressive disorder and anxiety disorders. In this review, we discuss existing studies reporting cerebellar dysfunction in various psychiatric disorders. We will also discuss future directions for studies linking the cerebellum to psychiatric disorders.

  1. Body Dysmorphic Disorder

    Directory of Open Access Journals (Sweden)

    Perihan Cam Ray

    2012-12-01

    Full Text Available Body dysmorphic disorder is a type of mental illness, wherein the affected person is concerned with body image, manifested as excessive concern about and preoccupation with a perceived defect of their physical features. Although it is a common disease and has been defined in the literature over a century, it is not a well known disease. Chronic, treatment resistant and sometimes delusional nature could result in severe functional impairment. The diagnosis and appropriate therapy of disorder are crucial because of increased suicidality and reduction in life quality. In this article the symptoms, etiology, clinical features and treatment of body dysmorphic disorder are briefly reviewed.

  2. Disordered chaotic strings

    DEFF Research Database (Denmark)

    Schäfer, Mirko; Greiner, Martin

    Chaotic strings are coupled Tchebyscheff maps on a ring-network. With a well-specified empirical prescription they are able to explain the coupling constants of the standard model of elementary particle physics. This empirical relationship is tested further by introducing a tunable disorder to ch...... of the standard model of elementary particle physics. For the electromagnetic sector it is found that already a small disorder pushes the associated energy scale of the running coupling constant far away from the result without disorder....

  3. [Antisocial personality disorder].

    Science.gov (United States)

    Repo-Tiihonen, Eila; Hallikainen, Tero

    2016-01-01

    Antisocial personality disorder (ASP), especially psychopathy as its extreme form, has provoked fear and excitement over thousands of years. Ruthless violence involved in the disorder has inspired scientists, too.The abundance of research results concerning epidemiology, physiology, neuroanatomy, heritability, and treatment interventions has made ASP one of the best documented disorders in psychiatry. Numerous interventions have been tested, but there is no current treatment algorithm. Biological and sociological parameters indicate the importance of early targeted interventions among the high risk children. Otherwise, as adults they cause the greatest harm. The use of medications or psychotherapy for adults needs careful consideration.

  4. Body dysmorphic disorder

    DEFF Research Database (Denmark)

    Jawad, Mustafa Bashir M; Sjögren, Magnus

    2017-01-01

    % of the patients attempt to commit suicide. Comorbidities, such as obsessive compulsive disorder, depression, and anxiety, are frequent. These patients may seek cosmetic or dermatologic rather than psychological treatment. In the view of the high prevalence and risk of suicide, recognizing this disorder......Body dysmorphic disorder is defined by a preoccupation of one or more non-existent or slight defects or flaws in the physical appearance. The prevalence is 1.7-2.4% in the general population with a higher incidence rate in women. The rate of suicidal ideation is as high as 80%, and up to 25...

  5. Oppositional Defiant Disorder (ODD)

    Science.gov (United States)

    ... separation or divorce and differences in expectations and parenting styles. Your child's key medical information, including other physical ... way to prevent oppositional defiant disorder. However, positive parenting and ... child's self-esteem and rebuild a positive relationship between you and ...

  6. Connective Tissue Disorders

    Science.gov (United States)

    Connective tissue is the material inside your body that supports many of its parts. It is the "cellular ... their work. Cartilage and fat are examples of connective tissue. There are over 200 disorders that impact connective ...

  7. Attention Deficit Hyperactivity Disorder

    Science.gov (United States)

    ... If so, your child may have attention deficit hyperactivity disorder (ADHD). Nearly everyone shows some of these ... children. The main features of ADHD are Inattention Hyperactivity Impulsivity No one knows exactly what causes ADHD. ...

  8. Autonomic Nervous System Disorders

    Science.gov (United States)

    Your autonomic nervous system is the part of your nervous system that controls involuntary actions, such as the beating of your heart ... breathing and swallowing Erectile dysfunction in men Autonomic nervous system disorders can occur alone or as the result ...

  9. Understanding Attention Deficit Disorders.

    Science.gov (United States)

    Villegas, Orlando; And Others

    This booklet provides basic information regarding attention deficit hyperactivity disorders (ADHD), in their separate modalities, with hyperactivity, impulsivity, and inattention. Explanations are offered concerning short attention span, impulsive behavior, hyperactivity, and beginning new activities before completing the previous one. Theories…

  10. Female reproductive disorders

    DEFF Research Database (Denmark)

    Crain, D Andrew; Janssen, Sarah J; Edwards, Thea M

    2008-01-01

    To evaluate the possible role of endocrine-disrupting compounds (EDCs) on female reproductive disorders emphasizing developmental plasticity and the complexity of endocrine-dependent ontogeny of reproductive organs. Declining conception rates and the high incidence of female reproductive...

  11. Fatty Acid Oxidation Disorders

    Science.gov (United States)

    ... acid oxidation disorders are tested for in newborn screening? The March of Dimes recommends that all babies ... in behavior Diarrhea, nausea (feeling sick to your stomach) and throwing up Drowsiness Fever Fussiness Little appetite ...

  12. Neuroimaging in anxiety disorders.

    Science.gov (United States)

    Engel, Kirsten; Bandelow, Borwin; Gruber, Oliver; Wedekind, Dirk

    2009-06-01

    Neuroimaging studies have gained increasing importance in validating neurobiological network hypotheses for anxiety disorders. Functional imaging procedures and radioligand binding studies in healthy subjects and in patients with anxiety disorders provide growing evidence of the existence of a complex anxiety network, including limbic, brainstem, temporal, and prefrontal cortical regions. Obviously, "normal anxiety" does not equal "pathological anxiety" although many phenomena are evident in healthy subjects, however to a lower extent. Differential effects of distinct brain regions and lateralization phenomena in different anxiety disorders are mentioned. An overview of neuroimaging investigations in anxiety disorders is given after a brief summary of results from healthy volunteers. Concluding implications for future research are made by the authors.

  13. Sleep Disorders (PDQ)

    Science.gov (United States)

    ... time. A sleep disorder assessment includes a physical exam, health history, and sleep history. Your doctor will ... before bedtime. Avoid foods and drinks that have caffeine , including dietary supplements to control appetite . Other habits ...

  14. Talking about GI Disorders

    Science.gov (United States)

    ... Join eNewsletter Sidebar × MOBILE MENU About Us Upper GI Aerophagia Dyspepsia Cyclic Vomiting Syndrome Gastroparesis GERD Infant Regurgitation Rumination Syndrome Lower GI Bellyaches in Children Childhood Defecation Disorders Diarrhea Hirschsprung's ...

  15. Hearing Disorders and Deafness

    Science.gov (United States)

    ... impossible, to hear. They can often be helped. Deafness can keep you from hearing sound at all. ... certain medicines, and surgery. NIH: National Institute on Deafness and Other Communication Disorders

  16. Antisocial Personality Disorder

    Science.gov (United States)

    ... Labs at NIMH Home Research Areas Principal Investigators Administrative Oversight & Support Collaborations & Partnerships Join A Study News & ... by the American Psychiatric Association’s Diagnostic and Statistical Manual on Mental Disorders, fourth edition (DSM-IV) as “... ...

  17. Disruptive Mood Dysregulation Disorder

    Science.gov (United States)

    ... Labs at NIMH Home Research Areas Principal Investigators Administrative Oversight & Support Collaborations & Partnerships Join A Study News & ... the first time in the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), published in 2013 . & ...

  18. Any Personality Disorder

    Science.gov (United States)

    ... Labs at NIMH Home Research Areas Principal Investigators Administrative Oversight & Support Collaborations & Partnerships Join A Study News & ... to the American Psychiatric Association's Diagnostic and Statistical Manual on Mental Disorders, fourth edition (DSM-IV) . These ...

  19. Disability in anxiety disorders

    NARCIS (Netherlands)

    Hendriks, S.M.; Spijker, J.; Licht, C.M.M.; Beekman, A.T.F.; Hardeveld, F.; Graaf, R. de; Batelaan, N.M.; Penninx, B.W.J.H.

    2014-01-01

    Background: This study compares disability levels between different anxiety disorders and healthy controls. We further investigate the role of anxiety arousal and avoidance behaviour in disability, and whether differences in these symptom patterns contribute to disability differences between anxiety

  20. Disability in anxiety disorders

    NARCIS (Netherlands)

    Hendriks, S.M.; Spijker, J.; Licht, C.M.; Beekman, A.T.; Hardeveld, F.; Graaf, R. de; Batelaan, N.M.; Penninx, B.W.J.H.

    2014-01-01

    BACKGROUND: This study compares disability levels between different anxiety disorders and healthy controls. We further investigate the role of anxiety arousal and avoidance behaviour in disability, and whether differences in these symptom patterns contribute to disability differences between anxiety

  1. Disorders of heavy metals.

    Science.gov (United States)

    Woimant, France; Trocello, Jean-Marc

    2014-01-01

    Heavy metals and trace elements play an important role in relation to the physiology and pathology of the nervous system. Neurologic diseases related to disorders of metabolism of copper and iron are reviewed. Copper disorders are divided into two classes: ATP7A- or ATP7B-related inherited copper transport disorders (Menkes disease, occipital horn syndrome, ATP7A-related distal motor neuropathy, and Wilson disease) and acquired diseases associated with copper deficiency or copper excess. Iron brain disorders are divided into genetic neurodegeneration with brain iron accumulation (NBIA, neuroferritinopathy, and aceruloplasminemia), genetic systemic iron accumulation with neurologic features (hemochromatosis), and acquired diseases associated with iron excess (superficial siderosis) or iron deficiency (restless leg syndrome). The main features of cadmium, lead, aluminum, mercury, and manganese toxicity are summarized.

  2. Other Rhythm Disorders

    Science.gov (United States)

    ... Peripheral Artery Disease Venous Thromboembolism Aortic Aneurysm More Other Heart Rhythm Disorders Updated:Dec 21,2016 In ... page to further explore diagnosis, treatment options, and other information about conditions associated with atrial flutter. SICK ...

  3. Toe Injuries and Disorders

    Science.gov (United States)

    ... severe arthritis, can cause toe problems and pain. Gout often causes pain in the big toe. Common toe problems include Corns and bunions Ingrown toenails Sprains and dislocations Fractures Treatments for toe injuries and disorders vary. They might ...

  4. Pelvic Floor Disorders

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Pelvic Floor Disorders: Condition Information Skip sharing on social media links Share this: Page Content What is the pelvic floor? The term "pelvic floor" refers to the group ...

  5. Cyclothymia (Cyclothymic Disorder)

    Science.gov (United States)

    ... happiness or well-being (euphoria) Extreme optimism Inflated self-esteem Talking more than usual Poor judgment that can ... in bipolar spectrum disorders: A systematic review. Clinical Psychology Review. 2015;35:19. Suppes T, et al. ...

  6. Hand Injuries and Disorders

    Science.gov (United States)

    ... the wrist, often making your fingers feel numb Injuries that result in fractures, ruptured ligaments and dislocations ... deformity Tendinitis - irritation of the tendons Disorders and injuries of your fingers and thumb

  7. Attention deficit hyperactivity disorder.

    Science.gov (United States)

    Kulkarni, Madhuri

    2015-03-01

    Attention Deficit Hyperactivity Disorder (ADHD) is a common behavioral disorder in children. It is characterized by motor hyperactivity, impulsivity and inattention inappropriate for the age. Approximately 5-10 % of school age children are diagnosed to have ADHD. The affected children show significant impairment in social behavior and academic performance. The DSM-5 criteria are useful in diagnosing three subtypes of ADHD based on presence of symptoms described in 3 domains viz ., inattention, hyperactivity and impulsivity. Co-morbidities like specific learning disability, anxiety disorder, oppositional defiant disorder are commonly associated with ADHD.Education of parents and teachers, behavioral therapy and medication are main components of management. Methylphenidate and Atomoxetine are effective in controlling symptoms of ADHD in most children. Research studies estimated that 30-60 % of children continue to show symptoms of ADHD in adulthood. The general practitioner can play an important role in early diagnosis, appropriate assessment and guiding parents for management of children with ADHD.

  8. Posttraumatic Stress Disorder

    Science.gov (United States)

    ... the lights on or take a favorite stuffed animal to bed, it might help them get through ... Anxiety, Fears, and Phobias Childhood Stress About Teen Suicide Sadness and Depression Obsessive-Compulsive Disorder Phobias Five ...

  9. Skin Pigmentation Disorders

    Science.gov (United States)

    Pigmentation means coloring. Skin pigmentation disorders affect the color of your skin. Your skin gets its color from a pigment called melanin. Special cells in the skin make melanin. When these cells become damaged or ...

  10. Paranoid personality disorder.

    Science.gov (United States)

    Triebwasser, Joseph; Chemerinski, Eran; Roussos, Panos; Siever, Larry J

    2013-12-01

    Paranoid personality disorder (PPD) is currently included in DSM-IV's "odd cluster" or "cluster A." In the present article, the authors review available information pertaining to the psychometric properties of PPD, as derived from the relevant literature and from databases of personality disorder study groups. There is comparatively little published evidence for the reliability and validity of PPD, and researchers by and large have tended not to study the disorder, either because of investigators' difficulty recruiting individuals with PPD into research studies, or (as seems more likely) because the trait-paranoia from which many psychiatric patients suffer has seemed better explained by other DSM-IV disorders on Axis I and/or Axis II than by PPD. Given the scant empirical evidence on PPD, it seems reasonable to remove it as an independent diagnosis from the next edition of DSM, and instead to encourage clinicians to code trait-paranoia using a dimensional approach.

  11. Thyroid Disorders Overview

    Science.gov (United States)

    ... Hyperthyroidism Hypothyroidism Thyroid Nodules Pregnancy and Thyroid Disease Thyroid Disorders The thyroid is a small butterfly-shaped ... consumes less oxygen and produces less body heat. Thyroid Nodules A thyroid nodule is a small lump ...

  12. Disordered Materials An Introduction

    CERN Document Server

    Ossi, Paolo M

    2006-01-01

    This self-contained text introduces the physics of structurally disordered condensed systems at the level of advanced undergraduate and graduate students. Among the topics are the geometry and symmetries of the structural units used as building blocks of extended structures, the various kinds of disorder, the phenomenology and the main theories of the glass transition, the structure of amorphous systems and the techniques to investigate it, the evolution of system's structure with its size (clusters) and the presence of orientational order in the absence of translational order (quasicrystals). In the second edition, the treatment of the mode coupling theory of the glass transition has been enlarged and connects now to a new section on collective excitations in disordered systems. Special attention has been devoted to nanometer-sized disordered systems, with emphasis on cluster-assembled materials. Questions of what governs the occurrence and stability of quasicrystals, the features of the amorphous to quasicr...

  13. Mental Disorders - Multiple Languages

    Science.gov (United States)

    ... An Introduction) - español (Spanish) MP3 Healthy Roads Media Mental Disorders: MedlinePlus Health Topic - English Enfermedades mentales: Tema de salud de MedlinePlus - español (Spanish) National Library of Medicine ...

  14. with obsessive compulsive disorder

    African Journals Online (AJOL)

    2007-09-25

    Sep 25, 2007 ... received the diagnosis of OCD, according to ICD-10 DCR1S, were included. ... morbid anxiety disorders, concurrent major illness or systemic dysfunction ..... a comparison with social phobic and normal control subjects. J.

  15. Homocysteine and Psychiatric Disorders

    Directory of Open Access Journals (Sweden)

    Vanessa Cavalcante da Silva PhD

    2017-03-01

    Full Text Available Psychiatric disorders are highly prevalent all over the world with a great impact on public health. Altered homocysteine metabolism is implicated in the pathogenesis of many of these disorders, as it can interfere in normal methylation of subcellular components, promote neuroexcitotoxicity, and induce oxidative stress and inflammation. There are cumulative data implicating these mechanisms in the development of autism, schizophrenia, depression, bipolar disorder, and Alzheimer disease. Altered homocysteine metabolism is multifactorial in its origin. On one hand, genetic factors act as predisposing factors through brain development and function, and on the other hand, environmental factors give the opportunity for nutritional interventions improving metabolic status and possibly also clinical parameters. This article provides a review on the association of 1-carbon metabolism and autism, schizophrenia, depression, bipolar disorder, and dementia and goes through studies on the role of different cofactors and metabolites involved in this pathway.

  16. Schizophrenia: A Systemic Disorder

    Science.gov (United States)

    Kirkpatrick, Brian; Miller, Brian; García-Rizo, Clemente; Fernandez-Egea, Emilio

    2015-01-01

    The concept of schizophrenia that is most widely taught is that it is a disorder in which psychotic symptoms are the main problem, and a dysregulation of dopamine signaling is the main feature of pathophysiology. However, this concept limits clinical assessment, the treatments offered to patients, research, and the development of therapeutics. A more appropriate conceptual model is that: 1) schizophrenia is not a psychotic disorder, but a disorder of essentially every brain function in which psychosis is present; 2) it is not a brain disease, but a disorder with impairments throughout the body; 3) for many patients, neuropsychiatric problems other than psychosis contribute more to impairment in function and quality of life than does psychosis; and, 4) some conditions that are considered to be comorbid are integral parts of the illness. In conclusion, students, patients, and family members should be taught this model, along with its implications for assessment, research, and therapeutics. PMID:23518782

  17. Schizophrenia: a systemic disorder.

    Science.gov (United States)

    Kirkpatrick, Brian; Miller, Brian; García-Rizo, Clemente; Fernandez-Egea, Emilio

    2014-07-01

    The concept of schizophrenia that is most widely taught is that it is a disorder in which psychotic symptoms are the main problem, and a dysregulation of dopamine signaling is the main feature of pathophysiology. However, this concept limits clinical assessment, the treatments offered to patients, research, and the development of therapeutics. A more appropriate conceptual model is that: 1) schizophrenia is not a psychotic disorder, but a disorder of essentially every brain function in which psychosis is present; 2) it is not a brain disease, but a disorder with impairments throughout the body; 3) for many patients, neuropsychiatric problems other than psychosis contribute more to impairment in function and quality of life than does psychosis; and, 4) some conditions that are considered to be comorbid are integral parts of the illness. In conclusion, students, patients, and family members should be taught this model, along with its implications for assessment, research, and therapeutics.

  18. Treatment for Anxiety Disorders

    Science.gov (United States)

    ... Research & Practice News Blog Posts Depression and Anxiety Journal Insights E-Newsletter Clinical Practice Reviews, Teaching Tools and Other Resources Clinical ... Anxiety disorders and depression are treatable, and the vast majority ...

  19. Alcohol Use Disorder

    Science.gov (United States)

    ... questionnaire to help answer these questions. Use the DSM-5 criteria. The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), published by the American Psychiatric Association, is often ...

  20. Speech disorders - children

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001430.htm Speech disorders - children To use the sharing features on ... 2017, A.D.A.M., Inc. Duplication for commercial use must be authorized in writing by ADAM ...

  1. About Mood Disorders

    Science.gov (United States)

    ... people of all ages, races, ethnic groups and social classes. Although it can occur at any age, the ... is found among all races, ethnic groups and social classes. Like depression and other serious illnesses, bipolar disorder ...

  2. Medications for Panic Disorder and Generalized Anxiety Disorder During Pregnancy

    OpenAIRE

    Rubinchik, Sofya M.; Kablinger, Anita S.; Gardner, J. Suzette

    2005-01-01

    Objective: Approximately 30% of women experience some type of anxiety disorder during their lifetime. In addition, some evidence exists that anxiety disorders can affect pregnancy outcomes. This article reviews the literature on the course of generalized anxiety disorder (GAD) and panic disorder during pregnancy and the postpartum period and presents guidelines for management.

  3. Delusional disorder-somatic type (or body dysmorphic disorder) and ...

    African Journals Online (AJOL)

    to distinguish cases of delusional disorder of somatic subtype from severe ... Similarly, the treatment of such disorders with antipsychotics has been documented. .... dysthymia, obsessive-compulsive disorder, social phobia, panic disorder ... anxiety and mild degrees of depression and preoccupation, preceded the onset of ...

  4. Metabolic disorders in menopause

    OpenAIRE

    Grzegorz Stachowiak; Tomasz Pertyński; Magdalena Pertyńska-Marczewska

    2015-01-01

    Metabolic disorders occurring in menopause, including dyslipidemia, disorders of carbohydrate metabolism (impaired glucose tolerance – IGT, type 2 diabetes mellitus – T2DM) or components of metabolic syndrome, constitute risk factors for cardiovascular disease in women. A key role could be played here by hyperinsulinemia, insulin resistance and visceral obesity, all contributing to dyslipidemia, oxidative stress, inflammation, alter coagulation and atherosclerosis observed during the menopaus...

  5. Neurodevelopmental disorders and orthodontics

    OpenAIRE

    Uysal, Cemile; Işık Aslan, Belma

    2014-01-01

    Neurodevelopmental disorder, characterized by impairment of brain or central nervous system, is defined as a condition of abnormal brain function that affects the growing child's emotional condition, learning ability and memory. Delayed social development, communication problems, repetitive behaviors, unusual eating behavior, insomnia, sensitivity to sounds, motor problems related to poor muscle tonus may be seen in this type of disorder. Cerebral palsy, Down syndrome, Turner syndrome, Autism...

  6. Coagulation and Mental Disorders

    Directory of Open Access Journals (Sweden)

    Silvia Hoirisch-Clapauch

    2014-10-01

    Full Text Available The neurovascular unit is a key player in brain development, homeostasis, and pathology. Mental stress affects coagulation, while severe mental illnesses, such as recurrent depression and schizophrenia, are associated with an increased thrombotic risk and cardiovascular morbidity. Evidence indicates that the hemostatic system is involved to some extent in the pathogenesis, morbidity, and prognosis of a wide variety of psychiatric disorders. The current review focuses on emerging data linking coagulation and some psychiatric disorders.

  7. Night Eating Disorders

    OpenAIRE

    Deniz Tuncel; Fatma Özlem Orhan

    2009-01-01

    Hunger is an awakening related biological impulse. The relationship between hunger and sleep is moderated by the control of homeostatic and circadian rhytms of the body. Abnormal eating behavior during sleep period could result from different causes. Abnormal eating during the main sleep period has been categorized as either night eating syndrome or sleep related eating disorder. Night eating syndrome (NES) is an eating disorder characterised by the clinical features of morning anorexia, even...

  8. Oral and esophageal disorders.

    Science.gov (United States)

    Noyer, C M; Simon, D

    1997-06-01

    This article focused on the approach to oral and esophageal disorders in patients with AIDS. Most of these disorders respond to various therapeutic regimens. Some of the oral complications can be prevented with dental prophylaxis, whereas recurrent esophageal disease in some patients may require long-term suppressive therapy. As patients with AIDS live longer with lower CD4 counts, gastroenterologists need to become familiar with the approach to and management of the more common lesions of the mouth and esophagus.

  9. AUTISM SPECTRUM DISORDERS (ASD)

    OpenAIRE

    Middha Akanksha; Kataria Sahil; Sandhu Premjeet; Kapoor Bhawna

    2011-01-01

    Autism or Autism Spectrum Disorders (ASD) is a serious neurological disorder affecting communication skills, social interactions, adaptability in an individual, and also causes dramatic changes in behavioral patterns. This condition typically lasts throughout one’s lifetime and affects both, children as well as adults. Research has shown a tenfold increase in autism cases over the past decade and still rising at an alarming pace. The origins of autism are not known even to modern science. Aut...

  10. Female reproductive disorders

    DEFF Research Database (Denmark)

    Crain, D Andrew; Janssen, Sarah J; Edwards, Thea M;

    2008-01-01

    To evaluate the possible role of endocrine-disrupting compounds (EDCs) on female reproductive disorders emphasizing developmental plasticity and the complexity of endocrine-dependent ontogeny of reproductive organs. Declining conception rates and the high incidence of female reproductive disrupti......To evaluate the possible role of endocrine-disrupting compounds (EDCs) on female reproductive disorders emphasizing developmental plasticity and the complexity of endocrine-dependent ontogeny of reproductive organs. Declining conception rates and the high incidence of female reproductive...

  11. Primary headache disorders.

    Science.gov (United States)

    Benoliel, Rafael; Eliav, Eli

    2013-07-01

    Primary headache disorders include migraine, tension-type headaches, and the trigeminal autonomic cephalgias (TACs). "Primary" refers to a lack of clear underlying causative pathology, trauma, or systemic disease. The TACs include cluster headache, paroxysmal hemicrania, and short-lasting neuralgiform headache attacks with conjunctival injection and tearing; hemicrania continua, although classified separately by the International Headache Society, shares many features of both migraine and the TACs. This article describes the features and treatment of these disorders.

  12. Impulse control disorders and attention deficit disorder in pathological gamblers.

    Science.gov (United States)

    Specker, S M; Carlson, G A; Christenson, G A; Marcotte, M

    1995-12-01

    Little systematic research has been done on psychiatric comorbidity of pathological gambling, an impulse control disorder. This report describes the occurrence of attention deficit disorder and impulse control disorders in 40 pathological gamblers in treatment for gambling problems and 64 controls. Diagnoses were made by structured interviews which utilized operationalized diagnostic criteria. An impulse control disorder other than pathological gambling was noted in 35% of the pathological gamblers, compared to 3% of the controls (p buying (p behavior (p impulse control disorders. Attention deficit disorder was seen in 20% of the pathological gamblers. Rates of impulse control disorders did not differ by gender. Implications of these high rates of comorbidity are discussed.

  13. Disordered horizons: Holography of randomly disordered fixed points

    CERN Document Server

    Hartnoll, Sean A

    2014-01-01

    We deform conformal field theories with classical gravity duals by marginally relevant random disorder. We show that the disorder generates a flow to IR fixed points with a finite amount of disorder. The randomly disordered fixed points are characterized by a dynamical critical exponent $z>1$ that we obtain both analytically (via resummed perturbation theory) and numerically (via a full simulation of the disorder). The IR dynamical critical exponent increases with the magnitude of disorder, probably tending to $z \\to \\infty$ in the limit of infinite disorder.

  14. Skin Picking Disorder

    Directory of Open Access Journals (Sweden)

    Pinar Cetinay Aydin

    2014-08-01

    Full Text Available Skin picking disorder is not a dermatological disorder and it is a table characterized with picking skin excessively and repetitively, leading to damage in skin tissue. Unlike normal picking behaviour, psychogenic skin picking is repetitive and it can lead to severe damage in the skin and even complications which constitute vital danger. While some patients define frequent but short lasting picking attacks, others define rarer attacks which last a few hours. Skin picking disorder, which is not included in the classification systems up to DSM-5 as a separate diagnosis category, is included as an independent diagnosis in Obsessive Compulsive Disorder and Associated Disorders category in DSM-5. In case reports, open label studies and double blind studies selective serotonin reuptake inhibitors are shown to be effective in the treatment of skin picking disorder. Mostly, cognitive-behaviourial techniques are used and have been proven to be useful in psychotherapy. Habit reversal is one of the behaviourial techniques which are frequently applied, give positive results in which well-being state can be maintained. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2014; 6(4.000: 401-428

  15. Etiology of temporomandibular disorders.

    Science.gov (United States)

    Greene, C S

    1995-12-01

    This article discusses the subject of causation (etiology) as it has been applied to the field of temporomandibular disorders (TMD). These disorders have been the focus of considerable disagreement about what constitutes proper diagnosis and treatment, and it is clear that the main basis for these controversies has been conflicting views about the etiology of the various disorders. Many earlier theories emphasized dental morphological factors of malocclusion, occlusal dysharmony, and bad mandibular alignment as being primarily responsible for the development of TMD symptoms. Certain versions of these dental/skeletal concepts have long been a part of the belief system of the orthodontic specialty, leading to some special orthodontic protocols for managing TM disorders. Today, it is generally agreed that the etiology of TM disorders includes a multifactorial combination of physical and psychosocial factors, with some of them being either poorly understood or difficult to assess. In most cases, there are no special occlusal or orthodontic factors to be considered, and therefore occlusion-changing procedures are not generally required for successful treatment. This means that contemporary orthodontists must face the same challenge as all their other dental colleagues: to learn about modern concepts of diagnosis and treatment for all types of orofacial pain patients, and then to use currently recommended protocols for pain management and musculoskeletal therapy for those patients who have temporomandibular disorders.

  16. Transverse myelitis spectrum disorders

    Directory of Open Access Journals (Sweden)

    Pandit Lekha

    2009-01-01

    Full Text Available Acute transverse myelitis (ATM is an inflammatory demyelinating disorder that affects the spinal cord focally resulting in motor sensory and autonomic dysfunction. Establishing the diagnosis of ATM is not as difficult as determining the possible etiology. There is a difference in the perception of ATM seen in the West as compared to developing countries. In the West multiple sclerosis (MS is the most common inflammatory disorder of the central nervous system. An attack of ATM may be the beginning of MS. However, this may not be the case in developing countries where MS is uncommon. Most often transverse myelitis is monophasic and at best represents a site-restricted form of acute disseminated encephalomyelitis (ADEM. Traditionally the combination of optic neuritis and ATM, occurring as a monophasic illness would have been called as neuromyelitis optica (NMO. Changing concepts in the definition of NMO and the discovery of a biomarker, neuromyelitis optica immunoglobulin (NMO_IgG, has changed the way relapsing autoimmune disorders are being perceived currently. A variety of idiopathic inflammatory disorders such as Japanese form of optic spinal MS, recurrent myelitis, and recurrent optic neuritis have been brought under the umbrella of neuromyelitis spectrum disorders because of the association with NMO-IgG. Complete transverse myelitis accompanied by longitudinally extensive transverse myelitis which is seronegative for this biomarker has also been reported from several countries including Japan, Australia, and India. Thus, ATM is a heterogeneous disorder with a varied clinical spectrum, etiology, and outcome.

  17. Perfectionism in depression, obsessive-compulsive disorder and eating disorders.

    Science.gov (United States)

    Sassaroli, Sandra; Lauro, Leonor J Romero; Ruggiero, Giovanni Maria; Mauri, Massimo C; Vinai, Piergiuseppe; Frost, Randy

    2008-06-01

    High levels of perfectionism have been observed in major depression, anxiety disorders and eating disorders. Though few studies have compared levels of perfectionism across these disorders, there is reason to believe that different dimensions of perfectionism may be involved in eating disorders than in depression or anxiety [Bardone-Cone, A. M. et al. (2007). Perfectionism and eating disorders: Current status and future directions. Clinical Psychology Review, 27, 84-405]. The present study compared patients with major depression, obsessive-compulsive disorder, and eating disorders on dimensions of perfectionism. Concern over Mistakes was elevated in each of the patient groups while Pure Personal Standards was only elevated in the eating disorder sample. Doubts about Actions was elevated in both patients with obsessive-compulsive disorder and eating disorders, but not in depressed patients. Analyses of covariance indicated that Concern over Mistakes accounted for most of the variance in the relationship of perfectionism to these forms of psychopathology.

  18. SYSTEMIC DISORDERS AFFECTING DENTAL PATHOLOGY

    OpenAIRE

    Knezevic R. Milan; Andjelic S. Gordana; Knezevic M. Milena

    2014-01-01

    A retrospective overview of systemic disorders which might be associated with dental pathology is made. They are grouped as follows: (a) congenital dental developmental disorders, (b) chromosomal anomalies, (c) radiations, (d) immune disorders, (e) intoxications, (f) neurological alterations, (g) gastrointestinal diseases, (h) osteodystrophy and associated conditions, (i) skin diseases, (j) metabolic and endocrine disorders, (k) craniofacial malformation syndromes and other congenital g...

  19. Valerian for anxiety disorders.

    Science.gov (United States)

    Miyasaka, L S; Atallah, A N; Soares, B G O

    2006-10-18

    Anxiety disorders are very common mental health problems in the general population and in primary care settings. Herbal medicines are popular and used worldwide and might be considered as a treatment option for anxiety if shown to be effective and safe. To investigate the effectiveness and safety of valerian for treating anxiety disorders. Electronic searches: The Cochrane Collaboration Depression, Anxiety and Neurosis Cochrane Controlled Trials Register (CCDANCTR-Studies and CCDANCTR-References) searched on 04/08/2006, MEDLINE, Lilacs. References of all identified studies were inspected for additional studies. First authors of each included study, manufacturers of valerian products, and experts in the field were contacted for information regarding unpublished trials. Randomised controlled trials (RCTs) and quasi-randomised trials of valerian extract of any dose, regime, or method of administration, for people with any primary diagnosis of general anxiety disorder, anxiety neurosis, chronic anxiety status, or any other disorder in which anxiety is the primary symptom (panic disorder, obsessive compulsive disorder, social phobia, agoraphobia, other types of phobia, postraumatic stress disorder). Effectiveness was measured using clinical outcome measures and other scales for anxiety symptoms. Two review authors independently applied inclusion criteria, extracted and entered data, and performed the trial quality assessments. Where disagreements occurred, the third review author was consulted. Methodological quality of included trials was assessed using Cochrane Handbook criteria. For dichotomous outcomes, relative risk (RR) was calculated, and for continuous outcomes, the weighted mean difference (WMD) was calculated, with their respective 95% confidence intervals. One RCT involving 36 patients wih generalised anxiety disorder was eligible for inclusion. This was a 4 week pilot study of valerian, diazepam and placebo. There were no significant differences between the

  20. Schizophrenia as a semiotic disorder.

    Science.gov (United States)

    Harrod, J B

    1986-01-01

    Lanin-Kettering and Harrow (1985) argue the traditional position that schizophrenia is a thought disorder. Chaika and Lambe (1985) counter that it is a speech disorder at the syntactic-discursive level, and not a thought disorder. On the basis of state-of-the-art research in linguistics, it is suggested that the symptoms of schizophrenia are evidence of neither a thought disorder nor a syntactic-discursive disorder but a semiotic disorder. Semiotic structures have the form of saying something about something to someone and involve speech act, reference, pragmatics, and interpretation. Therefore, it appears that schizophrenic disorder is located in this structure.

  1. Psychiatric disorders in the elderly.

    Science.gov (United States)

    Skoog, Ingmar

    2011-07-01

    Recent research has shown that depression, anxiety disorders, and psychosis are more common than previously supposed in elderly populations without dementia. It is unclear whether the frequency of these disorders increases or decreases with age. Clinical expression of psychiatric disorders in old age may be different from that seen in younger age groups, with less and often milder symptoms. Concurrently, comorbidity between different psychiatric disorders is immense, as well as comorbidity with somatic disorders. Cognitive function is often decreased in people with depression, anxiety disorders, and psychosis, but whether these disorders are risk factors for dementia is unclear. Psychiatric disorders in the elderly are often related to cerebral neurodegeneration and cerebrovascular disease, although psychosocial risk factors are also important. Psychiatric disorders, common among the elderly, have consequences that include social deprivation, poor quality of life, cognitive decline, disability, increased risk for somatic disorders, suicide, and increased nonsuicidal mortality.

  2. Obsessive compulsive disorder

    Science.gov (United States)

    2012-01-01

    Introduction Obsessions or compulsions that cause personal distress or social dysfunction affect about 1% of adult men and 1.5% of adult women. About half of adults with obsessive compulsive disorder (OCD) have an episodic course, whereas the other half have continuous problems. Prevalence in children and adolescents is 2.7%. The disorder persists in about 40% of children and adolescents at mean follow-up of 5.7 years. Methods and outcomes We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of initial treatments for obsessive compulsive disorder in adults? What are the effects of initial treatments for obsessive compulsive disorder in children and adolescents? What are the effects of maintenance treatment for obsessive compulsive disorder in adults? What are the effects of maintenance treatment for obsessive compulsive disorder in children and adolescents? What are the effects of treatments for obsessive compulsive disorder in adults who have not responded to initial treatment with serotonin reuptake inhibitors (SRIs)? We searched: Medline, Embase, The Cochrane Library, and other important databases up to April 2011 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). Results We found 43 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. Conclusions In this systematic review we present information relating to the effectiveness and safety of the following interventions: addition of antipsychotics to serotonin reuptake inhibitors, behavioural therapy alone or with serotonin reuptake inhibitors, cognitive therapy or cognitive behavioural therapy (CBT) (alone or

  3. Disability associated with mental disorders

    OpenAIRE

    2006-01-01

    Background: Disability associated with mental illness is a major contributor to the global burden of disease. The present study looks at some aspects of disability associated with 7 psychiatric disorders: schizophrenia, bipolar affective disorder, anxiety disorders, depression, obsessive–compulsive disorder, dementia, and mental and behavioural disorders due to the use of alcohol. Aims: (i) To evaluate the nature and quantity of disabilities in the study groups; (ii) to compare the degree of ...

  4. Complex Posttraumatic Stress Disorder in Patients with Borderline Personality Disorder and Somatoform Disorders

    NARCIS (Netherlands)

    van Dijke, A.; Ford, J.D.; Van der Hart, O.; Van Son, M.J.M.; Van der Heijden, P.G.M.; Buerhing, M.

    2012-01-01

    Disorders of Extreme Stress Not Otherwise Specified (DESNOS), also known as Complex posttraumatic stress disorder, was assessed in a sample (N = 472) of adult psychiatric patients with confirmed diagnoses of Borderline Personality Disorder (BPD), Somatoform Disorders (SoD), comorbid BPD + SoD, or Af

  5. Eating disorders in Malta.

    Science.gov (United States)

    Grech, Anton

    2013-09-01

    In the beginning of 2014 a new service (residential and non residential) for eating disorders is being planned to open in Malta. A telephone based survey was conducted between 30 May and 11 June 2012. A randomized sample of 6000 of the population between 15 and 50 years old was chosen. 2.9 per cent of respondents have suffered from an eating disorder at some point in time. 2.0 percent of these had suffered from an eating disorder in the past, while the remaining (0.9 per cent) were suffering from an eating disorder at the time of study. Out of these 2,008 individuals participated in the study. Binge Eating was the most common eating disorder, with 55.8 per cent of respondents having this condition, followed by Anorexia (34.3 per cent) and Bulimia (13.3 per cent). These results were comparable to those of other European countries. Awareness of these conditions in the general population was generally good, higher in females and in those with a higher educational level.

  6. Metabolic disorders in menopause

    Directory of Open Access Journals (Sweden)

    Grzegorz Stachowiak

    2015-04-01

    Full Text Available Metabolic disorders occurring in menopause, including dyslipidemia, disorders of carbohydrate metabolism (impaired glucose tolerance – IGT, type 2 diabetes mellitus – T2DM or components of metabolic syndrome, constitute risk factors for cardiovascular disease in women. A key role could be played here by hyperinsulinemia, insulin resistance and visceral obesity, all contributing to dyslipidemia, oxidative stress, inflammation, alter coagulation and atherosclerosis observed during the menopausal period. Undiagnosed and untreated, metabolic disorders may adversely affect the length and quality of women’s life. Prevention and treatment preceded by early diagnosis should be the main goal for the physicians involved in menopausal care. This article represents a short review of the current knowledge concerning metabolic disorders (e.g. obesity, polycystic ovary syndrome or thyroid diseases in menopause, including the role of a tailored menopausal hormone therapy (HT. According to current data, HT is not recommend as a preventive strategy for metabolic disorders in menopause. Nevertheless, as part of a comprehensive strategy to prevent chronic diseases after menopause, menopausal hormone therapy, particularly estrogen therapy may be considered (after balancing benefits/risks and excluding women with absolute contraindications to this therapy. Life-style modifications, with moderate physical activity and healthy diet at the forefront, should be still the first choice recommendation for all patients with menopausal metabolic abnormalities.

  7. Immunologic endocrine disorders.

    Science.gov (United States)

    Michels, Aaron W; Eisenbarth, George S

    2010-02-01

    Autoimmunity affects multiple glands in the endocrine system. Animal models and human studies highlight the importance of alleles in HLA-like molecules determining tissue-specific targeting that, with the loss of tolerance, leads to organ-specific autoimmunity. Disorders such as type 1A diabetes, Graves disease, Hashimoto thyroiditis, Addison disease, and many others result from autoimmune-mediated tissue destruction. Each of these disorders can be divided into stages beginning with genetic susceptibility, environmental triggers, active autoimmunity, and finally metabolic derangements with overt symptoms of disease. With an increased understanding of the immunogenetics and immunopathogenesis of endocrine autoimmune disorders, immunotherapies are becoming prevalent, especially in patients with type 1A diabetes. Immunotherapies are being used more in multiple subspecialty fields to halt disease progression. Although therapies for autoimmune disorders stop the progress of an immune response, immunomodulatory therapies for cancer and chronic infections can also provoke an unwanted immune response. As a result, there are now iatrogenic autoimmune disorders arising from the treatment of chronic viral infections and malignancies. Copyright 2010 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.

  8. Immunologic Endocrine Disorders

    Science.gov (United States)

    Michels, Aaron W.; Eisenbarth, George S.

    2010-01-01

    Autoimmunity affects multiple glands in the endocrine system. Animal models and human studies highlight the importance of alleles in HLA (human leukocyte antigen)-like molecules determining tissue specific targeting that with the loss of tolerance leads to organ specific autoimmunity. Disorders such as type 1A diabetes, Grave's disease, Hashimoto's thyroiditis, Addison's disease, and many others result from autoimmune mediated tissue destruction. Each of these disorders can be divided into stages beginning with genetic susceptibility, environmental triggers, active autoimmunity, and finally metabolic derangements with overt symptoms of disease. With an increased understanding of the immunogenetics and immunopathogenesis of endocrine autoimmune disorders, immunotherapies are becoming prevalent, especially in type 1A diabetes. Immunotherapies are being used more in multiple subspecialty fields to halt disease progression. While therapies for autoimmune disorders stop the progress of an immune response, immunomodulatory therapies for cancer and chronic infections can also provoke an unwanted immune response. As a result, there are now iatrogenic autoimmune disorders arising from the treatment of chronic viral infections and malignancies. PMID:20176260

  9. Metabolic disorders in menopause.

    Science.gov (United States)

    Stachowiak, Grzegorz; Pertyński, Tomasz; Pertyńska-Marczewska, Magdalena

    2015-03-01

    Metabolic disorders occurring in menopause, including dyslipidemia, disorders of carbohydrate metabolism (impaired glucose tolerance - IGT, type 2 diabetes mellitus - T2DM) or components of metabolic syndrome, constitute risk factors for cardiovascular disease in women. A key role could be played here by hyperinsulinemia, insulin resistance and visceral obesity, all contributing to dyslipidemia, oxidative stress, inflammation, alter coagulation and atherosclerosis observed during the menopausal period. Undiagnosed and untreated, metabolic disorders may adversely affect the length and quality of women's life. Prevention and treatment preceded by early diagnosis should be the main goal for the physicians involved in menopausal care. This article represents a short review of the current knowledge concerning metabolic disorders (e.g. obesity, polycystic ovary syndrome or thyroid diseases) in menopause, including the role of a tailored menopausal hormone therapy (HT). According to current data, HT is not recommend as a preventive strategy for metabolic disorders in menopause. Nevertheless, as part of a comprehensive strategy to prevent chronic diseases after menopause, menopausal hormone therapy, particularly estrogen therapy may be considered (after balancing benefits/risks and excluding women with absolute contraindications to this therapy). Life-style modifications, with moderate physical activity and healthy diet at the forefront, should be still the first choice recommendation for all patients with menopausal metabolic abnormalities.

  10. Night Eating Disorders

    Directory of Open Access Journals (Sweden)

    Deniz Tuncel

    2009-08-01

    Full Text Available Hunger is an awakening related biological impulse. The relationship between hunger and sleep is moderated by the control of homeostatic and circadian rhytms of the body. Abnormal eating behavior during sleep period could result from different causes. Abnormal eating during the main sleep period has been categorized as either night eating syndrome or sleep related eating disorder. Night eating syndrome (NES is an eating disorder characterised by the clinical features of morning anorexia, evening hyperphagia, and insomnia with awakenings followed by nocturnal food ingestion. Recently night eating syndrome, conceptualized as a delayed circadian intake of food. Sleep-related eating disorder, thought to represent a parasomnia and as such included within the revised International Classification of Sleep Disorders (ICSD-2, and characterized by nocturnal partial arousals associated with recurrent episodes of involuntary food consumption and altered levels of consciousness. Whether, however, sleep-related eating disorder and night eating syndrome represent different diseases or are part of a continuum is still debated. This review summarizes their characteristics, treatment outcomes and differences between them.

  11. Bipolar Disorder in Children

    Directory of Open Access Journals (Sweden)

    Kimberly Renk

    2014-01-01

    Full Text Available Although bipolar disorder historically was thought to only occur rarely in children and adolescents, there has been a significant increase in children and adolescents who are receiving this diagnosis more recently (Carlson, 2005. Nonetheless, the applicability of the current bipolar disorder diagnostic criteria for children, particularly preschool children, remains unclear, even though much work has been focused on this area. As a result, more work needs to be done to further the understanding of bipolar symptoms in children. It is hoped that this paper can assist psychologists and other health service providers in gleaning a snapshot of the literature in this area so that they can gain an understanding of the diagnostic criteria and other behaviors that may be relevant and be informed about potential approaches for assessment and treatment with children who meet bipolar disorder criteria. First, the history of bipolar symptoms and current diagnostic criteria will be discussed. Next, assessment strategies that may prove helpful for identifying bipolar disorder will be discussed. Then, treatments that may have relevance to children and their families will be discussed. Finally, conclusions regarding work with children who may have a bipolar disorder diagnosis will be offered.

  12. [Sleep related eating disorder].

    Science.gov (United States)

    Inoue, Yuichi; Komada, Yoko

    2010-01-01

    Nighttime eating is categorized as either sleep-related eating disorder (SRED) or night eating syndrome (NES). Critical reviews of the literature on both disorders have suggested that they are situated at opposite poles of a disordered eating spectrum. The feeding behavior in SRED is characterized by recurrent episodes of eating after an arousal from nighttime sleep with amnesia. Conversely, NES could be considered as an abnormality in the circadian rhythm of meal timing with a normal circadian timing of sleep onset. Both conditions clearly concentrate to occur during young adulthood, and are often relentless and chronic. Misunderstanding and low awareness of SRED and NES have limited our ability to determine the exact prevalence of the two disorders. SRED is frequently associated with other sleep disorders, in particular parasomnias such as sleep walking. Cognitive-behavioral therapy is ineffective, but pharmacotherapy is very effective in controlling SRED. Especially, studies have shown that the anti-seizure medication topiramate may be an effective treatment for SRED.

  13. Psychosexual disorders and dermatologists

    Directory of Open Access Journals (Sweden)

    Tarun Narang

    2016-01-01

    Full Text Available Sexual problems that are psychological in origin, rather than physiological, are called psychosexual disorders. Multiple factors, such as general health of the patient, chronic illnesses, psychiatric/psychological disorders, and socio-cultural factors, alone or in combination can be attributed to the development of psychosexual dysfunctions. The symptoms of these disorders vary for each individual and differ with gender. These disorders may be categorized as sexual dysfunction, paraphilias, and gender identity disorders. Dermatologists are sometimes consulted for sexual dysfunctions in their routine practice by the patients visiting sexually transmitted infections (STI clinics because a majority of the patients believe that these problems are caused by dysfunctions in the sex organs, and because people are hesitant to go to sexuality clinics and psychiatrists for such problems. Sometimes these patients are referred from other specialties such as urology or gynecology; most often, we attempt to search for STIs or other dermatoses on the genitalia and refer them back. We often underestimate the prevalence of sexual concerns of the patients or feel uncomfortable discussing matters of sexuality with them. Dermatologists should understand basic sexual medicine and ask patients for sexual problems. They should be trained to manage such patients accordingly. In this review, we will be focusing on sexual dysfunctions, their etiopathogenesis, and management from a dermatologist's perspective.

  14. DEPRESSIVE DISORDERS IN EPILEPSY

    Directory of Open Access Journals (Sweden)

    Koralia Todorova

    2010-11-01

    Full Text Available Depressive disorders are the most frequent psychiatric comorbidity in epilepsy but very often remain unrecognized and untreated. We examined 103 epileptic patients, aged 18-60 years, 40 males and 63 females, for the presence of interictal depressive disorder. All subjects underwent clinical psychiatric examination, including evaluation on Hamilton Depression Rating Scale (HAM-D-17. A questionnaire for demographic and seizure-related variables was also completed. Concurrent depressive disorder (clinically presented according to ICD-10 diagnostic criteria affected 28.3% of all evaluated patients. Based on HAM-D-17 scores depression was defined as mild - 80% of all depressed patients, moderate - 17% and severe - 3%. Atypical presentation of interictal depressive disorder was frequent. Depression has a tremendous effect on one’s family, social and psychological functioning, even more than the actual seizure frequency and severity. Diagnostic difficulties come through the atypical mode of presentation of depressive disorders in epilepsy. Proper neuropsychiatric evaluation is essential for improving treatment and quality of life for patients with epilepsy.

  15. Bipolar Disorder in Children

    Science.gov (United States)

    2014-01-01

    Although bipolar disorder historically was thought to only occur rarely in children and adolescents, there has been a significant increase in children and adolescents who are receiving this diagnosis more recently (Carlson, 2005). Nonetheless, the applicability of the current bipolar disorder diagnostic criteria for children, particularly preschool children, remains unclear, even though much work has been focused on this area. As a result, more work needs to be done to further the understanding of bipolar symptoms in children. It is hoped that this paper can assist psychologists and other health service providers in gleaning a snapshot of the literature in this area so that they can gain an understanding of the diagnostic criteria and other behaviors that may be relevant and be informed about potential approaches for assessment and treatment with children who meet bipolar disorder criteria. First, the history of bipolar symptoms and current diagnostic criteria will be discussed. Next, assessment strategies that may prove helpful for identifying bipolar disorder will be discussed. Then, treatments that may have relevance to children and their families will be discussed. Finally, conclusions regarding work with children who may have a bipolar disorder diagnosis will be offered. PMID:24800202

  16. Electroencephalography in eating disorders

    Directory of Open Access Journals (Sweden)

    Jáuregui-Lobera I

    2011-12-01

    Full Text Available Ignacio Jáuregui-Lobera1,21Behavioral Sciences Institute, 2Pablo de Olavide University, Seville, SpainAbstract: Clinical applications of electroencephalography (EEG are used with different objectives, EEG being a noninvasive and painless procedure. In respect of eating disorders, in the 1950s a new line of study about the neurological bases of anorexia nervosa was started and has since been developed. The purpose of this review is to update the existing literature data on the main findings in respect of EEG in eating disorders by means of a search conducted in PubMed. Despite the fact that weight gain tends to normalize some brain dysfunctions assessed by means of EEG, the specific effect of gaining weight remains controversial. Different studies have reported that cortical dysfunctions can be found in patients with anorexia nervosa even after weight gain, whereas others have reported a normalization of EEG in respect of the initial reduced alpha/increased beta power in those patients with refeeding. Findings of studies that have analyzed the possible relationship between eating disorders and depression, based on sleep EEG disturbances, do not support the idea of eating disorders as a variant of depression or affective disorders. Some EEG findings are very consistent with previous neuroimaging results on patients with anorexia nervosa, reporting neural disturbances in response to stimuli that are relevant to the pathology (eg, stimuli like food exposure, different emotional situations, or body images.Keywords: electroencephalography, event-related potentials, sleep, depression, refeeding, weight gain

  17. Personality disorders in adolescence.

    Directory of Open Access Journals (Sweden)

    Kamila Lenkiewicz

    2015-08-01

    Full Text Available Adult personality disorders are well recognized and described in the literature. The discussion about the possibility of the presence of personality disorders in adolescents started about 20 years ago. Some authors claim the before the age of 18 it is only possible to identify precursors of future personality disorders and such a standpoint is reflected in diagnostic criteria. This is based on the assumption that personality in adolescence is still not well established. Consequently, the criterion on the persistence of symptoms for the period of time cannot be met (the persistence of symptoms of personality disorders for the period of at least two years. Other approach postulates that problems presented in adolescence should not be exclusively limited to Axis I according to DSM. The proponents of this approach claim that current diagnostic tools are not adjusted to adolescents, thus it is very difficult to measure stability and persistence of symptoms in this age group. This paper presents literature review on personality disorders in adolescence.

  18. Neuroimaging in eating disorders

    Directory of Open Access Journals (Sweden)

    Jáuregui-Lobera I

    2011-09-01

    Full Text Available Ignacio Jáuregui-LoberaBehavioral Sciences Institute and Pablo de Olavide University, Seville, SpainAbstract: Neuroimaging techniques have been useful tools for accurate investigation of brain structure and function in eating disorders. Computed tomography, magnetic resonance imaging, positron emission tomography, single photon emission computed tomography, magnetic resonance spectroscopy, and voxel-based morphometry have been the most relevant technologies in this regard. The purpose of this review is to update the existing data on neuroimaging in eating disorders. The main brain changes seem to be reversible to some extent after adequate weight restoration. Brain changes in bulimia nervosa seem to be less pronounced than in anorexia nervosa and are mainly due to chronic dietary restrictions. Different subtypes of eating disorders might be correlated with specific brain functional changes. Moreover, anorectic patients who binge/purge may have different functional brain changes compared with those who do not binge/purge. Functional changes in the brain might have prognostic value, and different changes with respect to the binding potential of 5-HT1A, 5-HT2A, and D2/D3 receptors may be persistent after recovering from an eating disorder.Keywords: neuroimaging, brain changes, brain receptors, anorexia nervosa, bulimia nervosa, eating disorders

  19. [Creativity and bipolar disorder].

    Science.gov (United States)

    Maçkalı, Zeynep; Gülöksüz, Sinan; Oral, Timuçin

    2014-01-01

    The relationship between creativity and bipolar disorder has been an intriguing topic since ancient times. Early studies focused on describing characteristics of creative people. From the last quarter of the twentieth century, researchers began to focus on the relationship between mood disorders and creativity. Initially, the studies were based on biographical texts and the obtained results indicated a relationship between these two concepts. The limitations of the retrospective studies led the researchers to develop systematic investigations into this area. The systematic studies that have focused on artistic creativity have examined both the prevalence of mood disorders and the creative process. In addition, a group of researchers addressed the relationship in terms of affective temperaments. Through the end of the 90's, the scope of creativity was widened and the notion of everyday creativity was proposed. The emergence of this notion led researchers to investigate the associations of the creative process in ordinary (non-artist) individuals. In this review, the descriptions of creativity and creative process are mentioned. Also, the creative process is addressed with regards to bipolar disorder. Then, the relationship between creativity and bipolar disorder are evaluated in terms of aforementioned studies (biographical, systematic, psychobiographical, affective temperaments). In addition, a new model, the "Shared Vulnerability Model" which was developed to explain the relationship between creativity and psychopathology is introduced. Finally, the methodological limitations and the suggestions for resolving these limitations are included.

  20. Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency.

    Directory of Open Access Journals (Sweden)

    Sander Barnhoorn

    2014-10-01

    Full Text Available As part of the Nucleotide Excision Repair (NER process, the endonuclease XPG is involved in repair of helix-distorting DNA lesions, but the protein has also been implicated in several other DNA repair systems, complicating genotype-phenotype relationship in XPG patients. Defects in XPG can cause either the cancer-prone condition xeroderma pigmentosum (XP alone, or XP combined with the severe neurodevelopmental disorder Cockayne Syndrome (CS, or the infantile lethal cerebro-oculo-facio-skeletal (COFS syndrome, characterized by dramatic growth failure, progressive neurodevelopmental abnormalities and greatly reduced life expectancy. Here, we present a novel (conditional Xpg-/- mouse model which -in a C57BL6/FVB F1 hybrid genetic background- displays many progeroid features, including cessation of growth, loss of subcutaneous fat, kyphosis, osteoporosis, retinal photoreceptor loss, liver aging, extensive neurodegeneration, and a short lifespan of 4-5 months. We show that deletion of XPG specifically in the liver reproduces the progeroid features in the liver, yet abolishes the effect on growth or lifespan. In addition, specific XPG deletion in neurons and glia of the forebrain creates a progressive neurodegenerative phenotype that shows many characteristics of human XPG deficiency. Our findings therefore exclude that both the liver as well as the neurological phenotype are a secondary consequence of derailment in other cell types, organs or tissues (e.g. vascular abnormalities and support a cell-autonomous origin caused by the DNA repair defect itself. In addition they allow the dissection of the complex aging process in tissue- and cell-type-specific components. Moreover, our data highlight the critical importance of genetic background in mouse aging studies, establish the Xpg-/- mouse as a valid model for the severe form of human XPG patients and segmental accelerated aging, and strengthen the link between DNA damage and aging.

  1. Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology.

    Directory of Open Access Journals (Sweden)

    Dick Jaarsma

    2011-12-01

    Full Text Available Neuronal degeneration is a hallmark of many DNA repair syndromes. Yet, how DNA damage causes neuronal degeneration and whether defects in different repair systems affect the brain differently is largely unknown. Here, we performed a systematic detailed analysis of neurodegenerative changes in mouse models deficient in nucleotide excision repair (NER and transcription-coupled repair (TCR, two partially overlapping DNA repair systems that remove helix-distorting and transcription-blocking lesions, respectively, and that are associated with the UV-sensitive syndromes xeroderma pigmentosum (XP and Cockayne syndrome (CS. TCR-deficient Csa(-/- and Csb(-/- CS mice showed activated microglia cells surrounding oligodendrocytes in regions with myelinated axons throughout the nervous system. This white matter microglia activation was not observed in NER-deficient Xpa(-/- and Xpc(-/- XP mice, but also occurred in Xpd(XPCS mice carrying a point mutation (G602D in the Xpd gene that is associated with a combined XPCS disorder and causes a partial NER and TCR defect. The white matter abnormalities in TCR-deficient mice are compatible with focal dysmyelination in CS patients. Both TCR-deficient and NER-deficient mice showed no evidence for neuronal degeneration apart from p53 activation in sporadic (Csa(-/-, Csb(-/- or highly sporadic (Xpa(-/-, Xpc(-/- neurons and astrocytes. To examine to what extent overlap occurs between both repair systems, we generated TCR-deficient mice with selective inactivation of NER in postnatal neurons. These mice develop dramatic age-related cumulative neuronal loss indicating DNA damage substrate overlap and synergism between TCR and NER pathways in neurons, and they uncover the occurrence of spontaneous DNA injury that may trigger neuronal degeneration. We propose that, while Csa(-/- and Csb(-/- TCR-deficient mice represent powerful animal models to study the mechanisms underlying myelin abnormalities in CS, neuron

  2. Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency.

    Directory of Open Access Journals (Sweden)

    Sander Barnhoorn

    2014-10-01

    Full Text Available As part of the Nucleotide Excision Repair (NER process, the endonuclease XPG is involved in repair of helix-distorting DNA lesions, but the protein has also been implicated in several other DNA repair systems, complicating genotype-phenotype relationship in XPG patients. Defects in XPG can cause either the cancer-prone condition xeroderma pigmentosum (XP alone, or XP combined with the severe neurodevelopmental disorder Cockayne Syndrome (CS, or the infantile lethal cerebro-oculo-facio-skeletal (COFS syndrome, characterized by dramatic growth failure, progressive neurodevelopmental abnormalities and greatly reduced life expectancy. Here, we present a novel (conditional Xpg-/- mouse model which -in a C57BL6/FVB F1 hybrid genetic background- displays many progeroid features, including cessation of growth, loss of subcutaneous fat, kyphosis, osteoporosis, retinal photoreceptor loss, liver aging, extensive neurodegeneration, and a short lifespan of 4-5 months. We show that deletion of XPG specifically in the liver reproduces the progeroid features in the liver, yet abolishes the effect on growth or lifespan. In addition, specific XPG deletion in neurons and glia of the forebrain creates a progressive neurodegenerative phenotype that shows many characteristics of human XPG deficiency. Our findings therefore exclude that both the liver as well as the neurological phenotype are a secondary consequence of derailment in other cell types, organs or tissues (e.g. vascular abnormalities and support a cell-autonomous origin caused by the DNA repair defect itself. In addition they allow the dissection of the complex aging process in tissue- and cell-type-specific components. Moreover, our data highlight the critical importance of genetic background in mouse aging studies, establish the Xpg-/- mouse as a valid model for the severe form of human XPG patients and segmental accelerated aging, and strengthen the link between DNA damage and aging.

  3. [Epidemiology of mood disorders].

    Science.gov (United States)

    Rouillon, Frédéric

    2008-02-29

    The 12 months and lifetime prevalence of is respectively 5 and 9% in the general population; moreover 10 to 20% of general practice patients are depressed. Depression is involved in about 40 to 80% of suicide and induces one of the greatest social burden. Mood disorders are more frequent in women, individual living alone and people with low socio-economic level. Risk factors are stressfull life events, biological vulnerability (genetic factors), somatic diseases, psychiatric comorbidity including personality disorders and addictions. Depressive disorders are underdiagnosed and undertreated despite efficacious pharmacological and psychotherapeutic strategies in their treatment. It's the reason why public health programs to prevent depression have been promoted by many countries like European Alliance against Depression. Their efficacy must be evaluated as their cost-efficiency.

  4. [Cannabis-induced disorders].

    Science.gov (United States)

    Soyka, M; Preuss, U; Hoch, E

    2017-03-01

    Use and misuse of cannabis and marihuana are frequent. About 5% of the adult population are current users but only 1.2% are dependent. The medical use of cannabis is controversial but there is some evidence for improvement of chronic pain and spasticity. The somatic toxicity of cannabis is well proven but limited and psychiatric disorders induced by cannabis are of more relevance, e.g. cognitive disorders, amotivational syndrome, psychoses and delusional disorders as well as physical and psychological dependence. The withdrawal symptoms are usually mild and do not require pharmacological interventions. To date there is no established pharmacotherapy for relapse prevention. Psychosocial interventions include psychoeducation, behavioral therapy and motivational enhancement. The CANDIS protocol is the best established German intervention among abstinence-oriented therapies.

  5. Hypercalcemic Disorders in Children

    DEFF Research Database (Denmark)

    Stokes, Victoria J; Nielsen, Morten F; Hannan, Fadil M

    2017-01-01

    , and familial isolated primary hyperparathyroidism, and less commonly, as part of inherited complex syndromic disorders such as multiple endocrine neoplasia (MEN). Advances in identifying the genetic causes have resulted in increased understanding of the underlying biological pathways and improvements......Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present......-independent hypercalcemia in children include hypervitaminosis; granulomatous disorders and endocrinopathies. Congenital syndromes associated with PTH-independent hypercalcemia include idiopathic infantile hypercalcemia (IIH); William's syndrome; and inborn errors of metabolism. PTH-dependent hypercalcemia is usually...

  6. Female Sexual Arousal Disorders

    DEFF Research Database (Denmark)

    Giraldi, Annamaria; Rellini, Alessandra H; Pfaus, James;

    2012-01-01

    in one entity. Persistent genital arousal disorder (PGAD) is a new entity which is suggested to be defined as Restless Genital Syndrome. Aims.  The aims of this brief review are to give definitions of the different types of FSAD, describe their aetiology, prevalence and comorbidity with somatic....... Results.  Female Arousal Disorders have been defined in several ways with focus on the genital or subjective response or a combination of both. The prevalence varies and increases with increasing age, especially at the time of menopause, while distress decreases with age. Arousal disorders are often...... comorbid with other sexual problems and are of biopsychosocial etiology. In the assessment, a thorough sexological history as well as medical and gynecological history and examination are recommended. Treatment should be based on of the symptoms, clinical findings and, if possibly, on underlying etiology...

  7. Treatments for delusional disorder.

    Science.gov (United States)

    Skelton, Mike; Khokhar, Waqqas Ahmad; Thacker, Simon P

    2015-05-22

    Delusional disorder is commonly considered to be difficult to treat. Antipsychotic medications are frequently used and there is growing interest in a potential role for psychological therapies such as cognitive behavioural therapy (CBT) in the treatment of delusional disorder. To evaluate the effectiveness of medication (antipsychotic medication, antidepressants, mood stabilisers) and psychotherapy, in comparison with placebo in delusional disorder. We searched the Cochrane Schizophrenia Group's Trials Register (28 February 2012). Relevant randomised controlled trials (RCTs) investigating treatments in delusional disorder. All review authors extracted data independently for the one eligible trial. For dichotomous data we calculated risk ratios (RR) and their 95% confidence intervals (CI) on an intention-to-treat basis with a fixed-effect model. Where possible, we calculated illustrative comparative risks for primary outcomes. For continuous data, we calculated mean differences (MD), again with a fixed-effect model. We assessed the risk of bias of the included study and used the GRADE approach to rate the quality of the evidence. Only one randomised trial met our inclusion criteria, despite our initial search yielding 141 citations. This was a small study, with 17 people completing a trial comparing CBT to an attention placebo (supportive psychotherapy) for people with delusional disorder. Most participants were already taking medication and this was continued during the trial. We were not able to include any randomised trials on medications of any type due to poor data reporting, which left us with no usable data for these trials. For the included study, usable data were limited, risk of bias varied and the numbers involved were small, making interpretation of data difficult. In particular there were no data on outcomes such as global state and behaviour, nor any information on possible adverse effects.A positive effect for CBT was found for social self esteem

  8. Maternal Hartnup disorder.

    Science.gov (United States)

    Mahon, B E; Levy, H L

    1986-07-01

    We describe childbearing in two unrelated women with Hartnup disorder, an inborn error of neutral amino acid transport. Two living, unaffected offspring born after untreated and uneventful pregnancies, one from each woman, have had normal growth and development. The older one had an IQ of 92 at 4 years while the younger one at 4 months had a Development Quotient of 107 on the Mental Scale and 102 on the Motor Scale. A third offspring had a neural tube defect complicated by hydrocephalus and died at 3 months. This mother had a family history of major congenital anomalies. We think that this experience supports the view that Hartnup disorder in the mother, unlike phenylketonuria, does not have an adverse effect on the fetus. The presence of normal ratios of the amino acid concentrations between maternal and umbilical veins in one mother also suggests that placental transport of free amino acids, unlike renal transport, may not be reduced in maternal Hartnup disorder.

  9. Mental disorders in prisons.

    Science.gov (United States)

    Abdalla-Filho, Elias; De Souza, Patricia A; Tramontina, Juliana F; Taborda, José G V

    2010-09-01

    The existence of people with mental disorders in prisons is a reality found worldwide. The purpose of this article is not only to review the publications on this subject in 2009 but also to stimulate discussions that could contribute to its further scientific study. Most studies published in 2009 related to drug use among inmates and its consequences made it clear that this kind of disorder has a closer relationship with the crime than with mental illness. The existence of the mentally ill in prisons is a complex issue and the studies attempt to analyze aspects such as the type of disorder, sex of criminals, the opposition between incarceration and treatment, policy, harm reduction and stigma. A further study on the variables raised in this work is required, as well as examining others, to the extent that they are relevant to the various socio-economic and cultural realities.

  10. Key sleep neurologic disorders

    Science.gov (United States)

    St. Louis, Erik K.

    2014-01-01

    Summary Sleep disorders are frequent comorbidities in neurologic patients. This review focuses on clinical aspects and prognosis of 3 neurologic sleep disorders: narcolepsy, restless legs syndrome/Willis-Ekbom disease (RLS/WED), and REM sleep behavior disorder (RBD). Narcolepsy causes pervasive, enduring excessive daytime sleepiness, adversely affecting patients' daily functioning. RLS/WED is characterized by an uncomfortable urge to move the legs before sleep, often evolving toward augmentation and resulting in daylong bothersome symptoms. RBD causes potentially injurious dream enactment behaviors that often signify future evolution of overt synucleinopathy neurodegeneration in as many as 81% of patients. Timely recognition, referral for polysomnography, and longitudinal follow-up of narcolepsy, RLS/WED, and RBD patients are imperatives for neurologists in providing quality comprehensive patient care. PMID:24605270

  11. Treatments for Neurodevelopmental Disorders

    DEFF Research Database (Denmark)

    Di Pietro, Nina C; Whiteley, Louise Emma; Mizgalewicz, Ania

    2013-01-01

    The Internet is a major source of health-related information for parents of sick children despite concerns surrounding quality. For neurodevelopmental disorders, the websites of advocacy groups are a largely unexamined source of information. We evaluated treatment information posted on nine highly......-trafficked advocacy websites for autism, cerebral palsy, and fetal alcohol spectrum disorder. We found that the majority of claims about treatment safety and efficacy were unsubstantiated. Instead, a range of rhetorical strategies were used to imply scientific support. When peer-reviewed publications were cited, 20...... % were incorrect or irrelevant. We call for new partnerships between advocacy and experts in developmental disorders to ensure better accuracy and higher transparency about how treatment information is selected and evidenced on advocacy websites....

  12. Bipolar Disorder and Childhood Trauma

    Directory of Open Access Journals (Sweden)

    Evrim Erten

    2015-06-01

    Full Text Available Bipolar disorder is a chronic disorder in which irregular course of depressive, mania or mixed episodes or a complete recovery between episodes can be observed. The studies about the effects of traumatic events on bipolar disorder showed that they had significant and long-term effects on the symptoms of the disorder. Psychosocial stress might change the neurobiology of bipolar disorder over time. The studies revealed that the traumatic events could influence not only the onset of the disorder but also the course of the disorder and in these patients the rate of suicide attempt and comorbid substance abuse might increase. Bipolar patients who had childhood trauma had an earlier onset, higher number of episodes and comorbid disorders. In this review, the relationship between childhood trauma and bipolar disorder is reviewed. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2015; 7(2: 157-165

  13. Plasma Cell Disorders.

    Science.gov (United States)

    Castillo, Jorge J

    2016-12-01

    Plasma cell disorders are benign, premalignant, and malignant conditions characterized by the presence of a monoclonal paraprotein detected in serum or urine. These conditions are biologically, pathologically, and clinically heterogeneous. There have been major advances in the understanding of the biology of these diseases, which are promoting the development of therapies with novel mechanisms of action. Novel agents such as proteasome inhibitors, immunomodulatory drugs, and monoclonal antibodies have gained approval in the United States and Europe for the treatment of plasma cell disorders. Such therapies are translating into higher rates of response and survival and better toxicity profiles. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Stereotypic movement disorders.

    Science.gov (United States)

    Singer, Harvey S

    2011-01-01

    Stereotypic movements are repetitive, rhythmic, fixed, patterned in form, amplitude, and localization, but purposeless (e.g., hand shaking, waving, body rocking, head nodding). They are commonly seen in children; both in normal children (primary stereotypy) and in individuals with additional behavioral or neurological signs and symptoms (secondary stereotypy). They should be differentiated from compulsions (OCD), tics (tic disorders), trichotillomania, skin picking disorder, or the direct physiological effect of a substance. There is increasing evidence to support a neurobiological mechanism. Response to behavioral and pharmacological therapies is variable.

  15. Achilles tendon disorders.

    Science.gov (United States)

    Weinfeld, Steven B

    2014-03-01

    Achilles tendon disorders include tendinosis, paratenonitis, insertional tendinitis, retrocalcaneal bursitis, and frank rupture. Patients present with pain and swelling in the posterior aspect of the ankle. Magnetic resonance imaging and ultrasound are helpful in confirming the diagnosis and guiding treatment. Nonsurgical management of Achilles tendon disorders includes nonsteroidal anti-inflammatory drugs, physical therapy, bracing, and footwear modification. Surgical treatment includes debridement of the diseased area of the tendon with direct repair. Tendon transfer may be necessary to augment the strength of the Achilles tendon. Copyright © 2014 Elsevier Inc. All rights reserved.

  16. Phosphate homeostasis and disorders.

    Science.gov (United States)

    Manghat, P; Sodi, R; Swaminathan, R

    2014-11-01

    Recent studies of inherited disorders of phosphate metabolism have shed new light on the understanding of phosphate metabolism. Phosphate has important functions in the body and several mechanisms have evolved to regulate phosphate balance including vitamin D, parathyroid hormone and phosphatonins such as fibroblast growth factor-23 (FGF23). Disorders of phosphate homeostasis leading to hypo- and hyperphosphataemia are common and have clinical and biochemical consequences. Notably, recent studies have linked hyperphosphataemia with an increased risk of cardiovascular disease. This review outlines the recent advances in the understanding of phosphate homeostasis and describes the causes, investigation and management of hypo- and hyperphosphataemia.

  17. Basophils and skin disorders.

    Science.gov (United States)

    Borriello, Francesco; Granata, Francescopaolo; Marone, Gianni

    2014-05-01

    Since their discovery in 1879, basophils have been viewed as circulating blood granulocytes with limited immune function. New research tools for their functional analysis in vivo have revealed previously unrecognized roles for basophils in several skin disorders. Human basophils infiltrate different skin lesions and have been implicated in the pathogenesis of diseases ranging from chronic idiopathic urticaria to systemic lupus erythematosus. In mouse models, basophils participate in IgE-mediated chronic allergic inflammation of the skin and have a protective role in tick infestation. In this review, we discuss critical advances in our understanding of basophil biology and their roles in the pathophysiology of skin disorders.

  18. Selected disorders of malabsorption.

    Science.gov (United States)

    Siddiqui, Zafreen; Osayande, Amimi S

    2011-09-01

    Malabsorption syndrome encompasses numerous clinical entities that result in chronic diarrhea, abdominal distention, and failure to thrive. These disorders may be congenital or acquired and include cystic fibrosis and Shwachman-Diamond syndrome; the rare congenital lactase deficiency; glucose-galactose malabsorption; sucrase-isomaltase deficiency; adult-type hypolactasia leading to acquired lactose intolerance. The pathology may be due to impairment in absorption or digestion of nutrients resulting in Nutritional deficiency, gastrointestinal symptoms, and extra gastrointestinal symptoms. Treatment is aimed at correcting the deficiencies and symptoms to improve quality of life. Common disorders of malabsorption celiac disease, pernicious anemia, and lactase deficiency are discussed in this article.

  19. [Narcissistic personality disorder].

    Science.gov (United States)

    Lammers, C-H; Vater, A; Roepke, S

    2013-07-01

    Narcissism is a multifaceted term which encompasses traits of normal personality as well as a specific personality disorder. While much research has been concerned with narcissism as a trait there are only few empirical studies available on narcissistic personality disorder (NPS). The current diagnostic of NPS according to DSM-IV-TR focuses on grandiose type narcissism whereas vulnerable narcissism, which has been described by clinicians and researchers has not yet been recognised. Psychotherapy of narcissistic patients through different psychotherapeutic schools focuses mainly on processes in the therapeutic relationship, the analysis and change of grandiose and vulnerable schemas, emotion regulation techniques and correction of narcissistic behavior in favor of prosocial interactions.

  20. Childhood attention deficit hyperactivity disorder features in adult mood disorders.

    Science.gov (United States)

    Joo, Eun-Jeong; Lee, Kyu Young; Choi, Kyeong-Sook; Kim, Se Hyun; Song, Joo Youn; Bang, Yang Weon; Ahn, Yong Min; Kim, Yong Sik

    2012-04-01

    A significant overlap between childhood mood disorders and many aspects of attention deficit hyperactivity disorder (ADHD) has been established. High rates of co-occurrence, familial aggregation, and more severe clinical manifestations of the illnesses when they are comorbid suggest that common genetic and environmental factors may contribute to the development of both disorders. Research on the co-occurrence of childhood ADHD and mood disorders in childhood has been conducted. We retrospectively investigated childhood ADHD features in adults with mood disorders. Childhood ADHD features were measured with the Korean version of the Wender Utah Rating Scale (WURS). The sample consisted of 1305 subjects: 108 subjects were diagnosed with bipolar disorder type I, 41 with bipolar disorder type II, 101 with major depressive disorder, and 1055 served as normal controls. We compared total WURS scores as well as scores on 3 factors (impulsivity, inattention, and mood instability and anxiety) among the 4 different diagnostic groups. The 4 groups differed significantly from one another on all scores. The group with bipolar disorder type II obtained the highest total scores on the WURS. The impulsivity and inattention associated with childhood ADHD were more significantly related to bipolar disorder type II than with bipolar disorder type I. The mood instability and anxiety associated with childhood ADHD seem to be significantly related to major depressive disorder in adulthood. In conclusion, multifactorial childhood ADHD features were associated with mood disorders of adulthood.

  1. Tic disorders and Tourette's syndrome

    DEFF Research Database (Denmark)

    Plessen, Kerstin J

    2012-01-01

    Diagnostic categories of tic disorders include both transient and chronic tic disorders and Tourette's disorder. Changes for this group of disorders proposed for the forthcoming DSM-5 system include: (1) The term "stereotyped" will be eliminated in the definition of tics and the new definition...... tic disorders into those with motor tics or with vocal tics only; (5) specification of the absence of a period longer than 3 months without tics will disappear for Tourette's Disorder. This overview discusses a number of implications resulting from these diagnostic modifications of the diagnostic...

  2. Sleep Disturbances in Mood Disorders.

    Science.gov (United States)

    Rumble, Meredith E; White, Kaitlin Hanley; Benca, Ruth M

    2015-12-01

    The article provides an overview of common and differentiating self-reported and objective sleep disturbances seen in mood-disordered populations. The importance of considering sleep disturbances in the context of mood disorders is emphasized, because a large body of evidence supports the notion that sleep disturbances are a risk factor for onset, exacerbation, and relapse of mood disorders. In addition, potential mechanisms for sleep disturbance in depression, other primary sleep disorders that often occur with mood disorders, effects of antidepressant and mood-stabilizing drugs on sleep, and the adjunctive effect of treating sleep in patients with mood disorders are discussed.

  3. Epidemiology of autistic disorder and other pervasive developmental disorders.

    Science.gov (United States)

    Fombonne, Eric

    2005-01-01

    Is the incidence of autistic disorder and other pervasive developmental disorders (PDDs) increasing? Recent epidemiological surveys of autistic disorder and other PDDs have heightened awareness of and concern about the prevalence of these disorders; however, differences in survey methodology, particularly changes in case definition and case identification over time, have made comparisons between surveys difficult to perform and interpret. Recent surveys suggest that the rate of all PDDs is about 60 per 10,000. The prevalence of autism today is estimated at 13 per 10,000, Asperger's disorder is approximately 3 per 10,000, and childhood disintegrative disorder is very rare at about 0.2 per 10,000. The assessment process, sample size, publication year, and geographic location of studies all have an effect on prevalence estimates. In addition, data from many of these surveys indicate correlates of autistic disorder and other PDDs with IQ, gender, and other medical disorders.

  4. Psychobiology of anxiety disorders and obsessive-compulsive spectrum disorders.

    Science.gov (United States)

    Stein, Dan J

    2008-09-01

    Obsessive-compulsive disorder is currently classified as an anxiety disorder. However, there is growing interest in the concept of an obsessive-compulsive spectrum of disorders (OCSDs). The relationship between anxiety disorders and OCSDs has been questioned. The psychobiology of anxiety disorders and OCSDs is briefly reviewed in this article. While there appear to be several distinct contrasts in the underlying psychobiology of these conditions, there is also evidence of overlapping mechanisms. In addition, there are crucial gaps in our current database, confounding nosological decision-making. Conceptualizing various anxiety disorders and putative OCSDs as lying within a broader spectrum of emotional disorders may be useful. However, clinicians must also recognize that individual anxiety and obsessive-compulsive spectrum conditions, including disorders characterized by body-focused repetitive behaviors, have distinct psychobiological underpinnings and require different treatment approaches.

  5. Comparative Prevalence of Eating Disorders in Obsessive-Compulsive Disorder and Other Anxiety Disorders

    Directory of Open Access Journals (Sweden)

    Himanshu Tyagi

    2015-01-01

    Full Text Available Objective. The purpose of this study was to compare the prevalence of comorbid eating disorders in Obsessive-Compulsive Disorder (OCD and other common anxiety disorders. Method. 179 patients from the same geographical area with a diagnosis of OCD or an anxiety disorder were divided into two groups based on their primary diagnosis. The prevalence of a comorbid eating disorder was calculated in both groups. Results. There was no statistically significant difference in the prevalence of comorbid eating disorders between the OCD and other anxiety disorders group. Conclusions. These results suggest that the prevalence of comorbid eating disorders does not differ in anxiety disorders when compared with OCD. However, in both groups, it remains statistically higher than that of the general population.

  6. Traumatic Stress Disorders and Risk of Subsequent Schizophrenia Spectrum Disorder or Bipolar Disorder

    DEFF Research Database (Denmark)

    Okkels, Niels; Trabjerg, Betina; Arendt, Mikkel

    2017-01-01

    OBJECTIVE: Traumatic stress disorders are prevalent in patients with schizophrenia and bipolar disorder. However, there is a lack of prospective longitudinal studies investigating the risk of severe mental illness for people diagnosed with traumatic stress disorders. We aimed to assess if patients...... with acute stress reaction (ASR) or post-traumatic stress disorder (PTSD) are at increased risk of schizophrenia spectrum disorders or bipolar disorder. METHODS: We performed a prospective cohort study covering the entire Danish population including information on inpatient and outpatient mental hospitals...... over 2 decades. Predictors were in- or outpatient diagnoses of ASR or PTSD. We calculated incidence rate ratios (IRR) with 95% CIs of schizophrenia, schizophrenia spectrum disorder, and bipolar disorder. RESULTS: Persons with a traumatic stress disorder had a significantly increased risk...

  7. Coping with disorder

    DEFF Research Database (Denmark)

    Mosebo, Marianne Bach

    2008-01-01

    The traditionally pastoral people of Karamoja live in an environment fraught with violence, poverty and disorder. However, they also just live life. In this article, I speak out against an imbalance, which I claim exists in the literature on Karamoja; namely that it focuses primarily...

  8. Adrenal Gland Disorders

    Science.gov (United States)

    ... t live without, including sex hormones and cortisol. Cortisol helps you respond to stress and has many other important functions. With adrenal gland disorders, your glands make too much or not enough hormones. In Cushing's ... too much cortisol, while with Addison's disease, there is too little. ...

  9. Women's Sexual Pain Disorders

    NARCIS (Netherlands)

    van Lankveld, Jacques J. D. M.; Granot, Michal; Schultz, Willibrord C. M. Weijmar; Binik, Yitzchak M.; Wesselmann, Ursula; Pukall, Caroline F.; Bohm-Starke, Nina; Achtrari, Chahin

    2010-01-01

    Introduction. Women's sexual pain disorders include dyspareunia and vaginismus and there is need for state-of-the-art information in this area. Aim. To update the scientific evidence published in 2004, from the 2nd International Consultation on Sexual Medicine pertaining to the diagnosis and treatme

  10. Reactive Attachment Disorder.

    Science.gov (United States)

    Chapman, Sue

    2002-01-01

    Written by a British parent, this case study tells the story of an adopted child who experienced many difficulties adjusting to life at home and school. It describes attachment disorder, possible causes of attachment difficulties, the bonding cycle, therapeutic parenting, and how schools can support the re-nurturing process. (Contains references.)…

  11. Studies of Personality Disorders

    DEFF Research Database (Denmark)

    Ronningstam, Elsa; Simonsen, Erik; Oldham, John M

    2014-01-01

    The past 25 years have shown major advances in the studies of personality disorders. This collaborative article by the presidents, past and present, of ISSPD reflects on the progress within several significant areas of studies, i.e., assessment, neuroscience, treatment, prevention, advocacy...

  12. Hip Injuries and Disorders

    Science.gov (United States)

    ... problems. Osteoarthritis can cause pain and limited motion. Osteoporosis of the hip causes weak bones that break easily. Both of these are common in older people. Treatment for hip disorders may include rest, medicines, physical therapy, or surgery, including hip replacement.

  13. Binge eating disorder

    DEFF Research Database (Denmark)

    Schousboe, Birgitte Hartvig; Waaddegaard, Mette

    2011-01-01

    Binge eating disorder kaldes også bulimi uden opkastning eller den tredje spiseforstyrrelse. Det er en udbredt, men mindre kendt spiseforstyrrelse end anoreksi og bulimi. Patienterne er ofte overvægtige og har ikke kompenserende adfærd over for overspisningen i form af opkastning eller brug af...

  14. Exporting Our Disorders

    Science.gov (United States)

    Foltz, Robert

    2012-01-01

    In 2013, the American Psychiatric Association will release its newest Diagnostic and Statistical Manual, 5th Edition (DSM-5). This tome has evolved over the decades, originally including just 112 diagnoses across 128 pages. The upcoming edition is expected to eclipse the 943 pages, and 350+ disorders of the current DSM-IV-TR, offering a variety of…

  15. Autism Spectrum Disorder (ASD)

    Science.gov (United States)

    ... with: 1 Communication and interaction with other people Restricted interests and repetitive behaviors Different people with autism can have different symptoms. For this reason, autism is known as a spectrum disorder —which means that there is a range of ...

  16. Autism Spectrum Disorder

    Centers for Disease Control (CDC) Podcasts

    2014-04-02

    This podcast discusses autism spectrum disorder (ASD), a developmental disability that causes problems with social, communication, and behavioral skills. CDC estimates that one in 68 children has been identified as having ASD.  Created: 4/2/2014 by National Center on Birth Defects and Developmental Disabilities (NCBDDD).   Date Released: 4/2/2014.

  17. Temporomandibular joint disorders.

    Science.gov (United States)

    Buescher, Jennifer J

    2007-11-15

    Temporomandibular joint disorders are common in adults; as many as one third of adults report having one or more symptoms, which include jaw or neck pain, headache, and clicking or grating within the joint. Most symptoms improve without treatment, but various noninvasive therapies may reduce pain for patients who have not experienced relief from self-care therapies. Physical therapy modalities (e.g., iontophoresis, phonophoresis), psychological therapies (e.g., cognitive behavior therapy), relaxation techniques, and complementary therapies (e.g., acupuncture, hypnosis) are all used for the treatment of temporomandibular joint disorders; however, no therapies have been shown to be uniformly superior for the treatment of pain or oral dysfunction. Noninvasive therapies should be attempted before pursuing invasive, permanent, or semi-permanent treatments that have the potential to cause irreparable harm. Dental occlusion therapy (e.g., oral splinting) is a common treatment for temporomandibular joint disorders, but a recent systematic review found insufficient evidence for or against its use. Some patients with intractable temporomandibular joint disorders develop chronic pain syndrome and may benefit from treatment, including antidepressants or cognitive behavior therapy.

  18. Sexual disorders and crime.

    Science.gov (United States)

    Taborda, José G V; Michalski-Jaeger, Camila A

    2012-09-01

    Highlighting the relationship between sexual disorders and crime, reviewing and summarizing the articles published throughout 2011 which add to the current knowledge on this subject. Studies on specific populations confirm the association between sexual disorders and crime, particularly between paraphilias and sexual crimes regarding male offenders. Female offenders are less likely to be diagnosed with a sexual disorder. Some case reports focus on unusual paraphilias and lead us to question the vast possibilities of paraphilic contents and sexual arousal patterns. The variations of paraphilic-associated sexual arousal patterns, unconventional sex behaviors or paraphilic disorders are constantly changing. In this sense, the American Psychiatric Association's DSM-5 current proposals for a sexual dysfunction diagnostic category are under intense discussion because of their important clinical and forensic consequences. Sexual violence is a theme not well understood yet. Because of its nature, researching it can raise many ethical problems. There is no possibility of clinical trials and of case-control studies. Even cohort studies may be problematic in themselves. So, most of the research involves biased samples or case reports, or is merely theoretical. Further research is needed to improve our understanding of the subject, so that preventive and rehabilitative measures can be taken.

  19. Whiplash-Associated Disorders

    DEFF Research Database (Denmark)

    Ferrara, S. D.; Ananian, V.; Baccino, E.

    2016-01-01

    The manuscript presents the International Guidelines developed by the Working Group on Personal Injury and Damage under the patronage of the International Academy of Legal Medicine (IALM) regarding the Methods of Ascertainment of any suspected Whiplash-Associated Disorders (WAD). The document inc...

  20. Disorder effects in cuprates

    Science.gov (United States)

    Vobornik, I.; Grioni, M.; Berger, Helmuth; Forro, Laszlo; Pavuna, Davor; Margaritondo, Giorgio; Karkin, A.; Kelley, Ronald J.; Onellion, Marshall

    2000-09-01

    We report on ab-plane resistivity ((rho) ) and angle-resolved photoemission (ARPES) spectra for Bi2Sr2CaCu2O8+x single crystals irradiated with neutrons or electron-beam irradiation. Both the normal and superconducting states were measured with angle-resolved photoemission. Electron-beam irradiation leads to an increase in the residual resistivity, and a decrease in the superconducting transition temperature (Tc). The resistivity data does not indicate any pseudogap; the resistivity is linear from Tc to 300 K for all levels of disorder, and the slope (d(rho) /dT) is the same for all levels of disorder. The superconducting state ARPES data exhibits no change in the binding energy of the 'peak' for Brillouin zone locations near the (O,(pi) ) point. The peak spectral intensity decreases with increasing disorder, the gap fills in, but the peak neither shifts nor broadens. The normal state exhibits a pseudogap developing with disorder; the size of the pseudogap increases as the residual resistivity increases. The pseudogap is anisotropic, largest near the (O,(pi) ) point and zero in the direction. Neutron-beam irradiation causes an increase in the residual resistivity. The resistivity data exhibit a change of slope and indications of a pseudogap for neutron irradiation. For normal state ARPES data of neutron-beam irradiated samples, there is also an anisotropic pseudogap; it is also zero in the direction and large near the (O,(pi) ) point. We discuss implications of these data.