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Sample records for waardenburg syndrome type

  1. WAARDENBURG SYNDROME TYPE II: A CASE REPORT

    OpenAIRE

    Santosh Kumar; Sunil Kumar; Anand

    2014-01-01

    Waardenburg syndrome is a rare syndrome, characterized by lateral displacement of the medial canthi combined with dystopia of the lacrimal punctum and blepharophimosis, prominent broad nasal root, hypertrichosis of the medial part of the eyebrows, white forelock, heterochromia iridis, and deaf mutism. A four months old girl with waardenburg syndrome type II, who had the characterstic features of the syndrome, is reported.

  2. WAARDENBURG SYNDROME TYPE II: A CASE REPORT

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    Santosh Kumar

    2014-10-01

    Full Text Available Waardenburg syndrome is a rare syndrome, characterized by lateral displacement of the medial canthi combined with dystopia of the lacrimal punctum and blepharophimosis, prominent broad nasal root, hypertrichosis of the medial part of the eyebrows, white forelock, heterochromia iridis, and deaf mutism. A four months old girl with waardenburg syndrome type II, who had the characterstic features of the syndrome, is reported.

  3. Waardenburg's syndrome.

    Science.gov (United States)

    Yesudian, D P; Jayaraman, M; Janaki, V R; Yesudian, P

    1995-01-01

    Three children in a family of five presented with heterochromia iridis, lateral displacement of inner canthi and varying degrees of sensorineural deafness. All the 3 showed iris atrophy. The father of the children had only heterochromia iridis. A diagnosis of Waardenburg's syndrome Type I was made in the children with the father probably representing a forme fruste of the condition.

  4. Clinical and morphological features of Waardenburg syndrome type II.

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    Mullaney, P B; Parsons, M A; Weatherhead, R G; Karcioglu, Z A

    1998-01-01

    Evaluation of 4-month-old girl who presented with congenital cataracts revealed heterochromia iridis, fundus hypopigmentation, residual white forelock and sensory neural hearing loss--findings consistent with Waardenburg syndrome type II. Bilateral peripheral iridectomies performed at lensectomy provided tissue for evaluation. Light microscopy revealed fewer melanocytes in the blue iris than in the brown. Electron microscopic examination showed a significant (p = 0.0001) reduction in melanosome size in the blue iris, and the nerve endings contained fewer vesicles. A defect in neural crest cell migration and melanin synthesis may be responsible for the heterochromia iridis seen in Waardenburg syndrome type II.

  5. Waardenburg syndrome

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    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  6. Waardenburg Syndrome: A Case Report

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    Hayrullah Alp

    2010-12-01

    Full Text Available Introduction: Auditory-pigmentary syndromes are a group of diseases that effect the skin, hair, eyes and the cochlea. Waardenburg syndrome is one of the members of these autosomal dominantly inherited diseases. Waardenburg syndrome is characterized by white forelock, congenital sensorineural hearing loss, hypopigmented skin and anomalies of the intraocular tissues. How ever all these diagnostic features may not be seen in all patient. In addition, there are four subtypes of the syndrome in each of which the genetic and clinical findings are different. Case Report: In this article, a-3-year old boy with Waardenburg syndrome Type 1 was described. Also, in some of the family members the same disease was diagnosed. Conclusion: Waardenburg syndrome should be evaluated in the patients with congenital sensorineural hearing loss accompanied with the clinical findings. (Journal of Current Pediatrics 2010; 8: 123-6

  7. Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.

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    Akal, Ali; Göncü, Tugba; Boyaci, Nurefsan; Yılmaz, Ömer Faruk

    2013-12-18

    This study presents a case of an 8-year-old boy with iris heterochromia and anisometropic amblyopia who was diagnosed with Waardenburg syndrome (WS) type 2. An ophthalmic examination revealed iris heterochromia and anisometropic amblyopia in our patient. In the systemic examination, a white forelock and vitiligo on the arms and body were observed and neurosensory hearing loss was revealed, for which the patient used hearing aids. Identification and typing of patients with WS is crucial to address neurosensory hearing loss, glaucoma and fundus changes. While it might be challenging to communicate with a patient with speech and hearing problems, visual acuity should be examined carefully and probable amblyopia should be identified. Anterior segment changes and signs of glaucoma should also be evaluated in detail.

  8. Waardenburg syndrome 2

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    Uma Garg

    2012-01-01

    Full Text Available Waardenburg syndrome (WS is a rare disease characterised by sensorineural deafness in association with oculocutaneous pigmentary anomalies and dystopia canthorum. In this article, we report a 6-year-old boy with WS2, one of four clinical types of WS, for its rarity and relative paucity of reports in the otological literature. We also review the relevant literature of this rare disorder.

  9. Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin.

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    Eigelshoven, Sibylle; Kameda, Gitta; Kortüm, Anne-Katrin; Hübsch, Simone; Angerstein, Wolfgang; Singh, Preeti; Vöhringer, Renate; Goecke, Timm; Mayatepek, Ertan; Ruzicka, Thomas; Wildhardt, Gabriele; Meissner, Thomas; Kruse, Roland

    2009-01-01

    We report a 3-year-old girl with autosomal dominant inherited Waardenburg syndrome type I showing circumscribed hypopigmentation of the skin, heterochromia iridis, sensorineural deafness, and dental aberrations. Clinical diagnosis was confirmed by the identification of an underlying missense mutation (C811T) in the PAX3 gene. Early diagnosis of Waardenburg syndrome among children with pigment anomalies enables a successful interdisciplinary medical care.

  10. Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.

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    Liu, X Z; Newton, V E; Read, A P

    1995-01-02

    The Waardenburg syndrome (WS) consists of at least two distinct autosomal dominant hereditary disorders. WS Type I has been mapped to the distal part of chromosome 2q and the gene identified as PAX3. Other gene(s) are responsible for WS Type II. Mapping WS Type II requires accurate diagnosis within affected families. To establish diagnostic criteria for WS Type II, 81 individuals from 21 families with Type II WS were personally studied, and compared with 60 personally studied patients from 8 families with Type I and 253 cases of WS (Type I or II) from the literature. Sensorineural hearing loss (77%) and heterochromia iridum (47%) were the two most important diagnostic indicators for WS Type II. Both were more common in Type II than in Type I. Other clinical manifestations, such as white forelock and skin patches, were more frequent in Type I. We estimate the frequency of phenotypic traits and propose diagnostic criteria for WS Type II. In practice, a diagnosis of WS Type II can be made with confidence given a family history of congenital hearing loss and pigmentary disorders, where individuals have been accurately measured for ocular distances to exclude dystopia canthorum.

  11. [Waardenburg's syndrome].

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    Gimñenez, F; Carbonell, R; Pérez, F; Lozano, I

    1994-01-01

    Reporting one case of this condition type-2 with heterochromia iridis and cochlear deafness. The AA. review the syndrome's components and it nomenclature as well. They discuss about the convenience of including this deviation in the chapter of "diseases of the embryonic neural crest". The specific place of the gene responsibly in the chromosome-2 and the possibilities of genetic counselling are considered.

  12. Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II

    OpenAIRE

    Shuzhi Yang; Pu Dai; Xin Liu; Dongyang Kang; Xin Zhang; Weiyan Yang; Chengyong Zhou; Shiming Yang; Huijun Yuan

    2013-01-01

    Waardenburg Syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF) gene mutations account for about 15% of WS type II (WS2) cases. To date, fewer than 40 different MITF gene mutations have been identified in human WS2 patients, and few of these were of Chinese descent. In this study, we report clinical findings and mutation identification in the ...

  13. Waardenburg syndrome type2 in a 10 month old infant; a case report

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    Salar Behzadnia

    2009-01-01

    Full Text Available (Received 17 August, 2009 ; Accepted 9 December, 2009AbstractBackground and purpose: Waardenburg syndrome (WS is a rare disease characterized by sensor neural deafness in association with pigmentary anomalies and defects of neural-crest-derived tissues. WS is caused by mutations in the microphthalmia-associated with transcription factor gene.Materials and methods: This case is a 10 month old infant girl in which during a routine physical examination found that she has hetetrochromia and unilateral hearing loss. Regard to waardenburg syndrome criteria Type 2, this case report was diagnosed as WS.Results: WS is classified into four types. WS 2 is characterized by sensorineural hearing loss, lateral displacement of medial canthi (dystopia canthorum, pigmentary disorders of eyes, hair, and skin.Conclusion: Waardenburg syndrome can be diagnosed easily in the first few months of life, due to prominent phenotypic features. Earlier diagnosis means a more successful rehabilitation of hearing.J Mazand Univ Med Sci 2009; 19(72: 77-80 (Persian.

  14. Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).

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    Ishikiriyama, S; Tonoki, H; Shibuya, Y; Chin, S; Harada, N; Abe, K; Niikawa, N

    1989-08-01

    We report on a child with Waardenburg syndrome type I and a paracentric inversion of chromosome 2. This 20 month-old boy has dystopia canthorum, sensorineural deafness, heterochromia iridis, partially albinotic ocular fundi, and partial leukodermia. He does not have mental retardation or any skeletal abnormalities. Family history was unremarkable. Cytogenetic studies demonstrated that the patient has a paracentric inversion (2)(q35q37.3); his parents have normal chromosomes. These findings suggest that the locus of the gene for Waardenburg syndrome type I may be at 2q35 or 2q37.3.

  15. Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family

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    de Aquino, Sibele-Nascimento; Paranaíba, Lívia-Maris-R.; Gomes, Andreia; dos-Santos-Neto, Pedro; Coletta, Ricardo-D.; Cardoso, Aline-Francoise; Frota, Ana-Cláudia; Martelli-Júnior, Hercílio

    2016-01-01

    Background The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. Material and Methods To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and orofacial examination. Molecular analysis of the PAX3 gene was performed. Results The pedigree of the family,including the last four generations, was constructed and revealed non-consanguineous marriages. Out of 29 descendants, 16 family members showed features of WS1, with 9 members showing two major criteria indicative of WS1. Five patients showed white forelock and iris hypopigmentation, and four showed dystopia canthorum and iris hypopigmentation. Two patients had hearing loss. Dental abnormalities were identified in three family members, including dental agenesis, conical teeth and taurodontism. Sequencing analysis failed to identify mutations in the PAX3 gene. Conclusions These results confirm that WS1 was transmitted in this family in an autosomal dominant pattern with variable expressivity and high penetrance. The presence of dental manifestations, especially tooth agenesis and conical teeth which resulted in considerable aesthetic impact on affected individuals was a major clinical feature. Clinical relevance: This article reveals the presence of well-defined dental changes associated with WS1 and tries to establish a possible association between these two entities showing a new spectrum of WS1. Key words:Waardenburg syndrome, hearing loss, oral manifestations, mutation. PMID:27031059

  16. Three cases of Waardenburg syndrome type 2 in a Korean family.

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    Choi, Joong Hyuk; Moon, Sung-Kyun; Lee, Ki Hwang; Lew, Ho Min; Chang, Yoon-Hee

    2004-12-01

    Waardenburg syndrome (WS) is a rare, autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary disturbances of the skin, hair, and iris, and other developmental defects such as lateral displacement of both medial canthi and lacrimal puncta called dystopia canthorum. While mutations of the PAX3 (paired box) gene have been identified in about 99% of WS type 1 cases, WS type 2 is a heterogeneous group, with about 15% of cases caused by mutations in microphthalmia associated transcription factor (MITF). We have experienced three cases of typical WS type 2 in a Korean family, for whom full ocular examination and genetic studies were performed. The genetic studies revealed no mutation in either PAX3 or MITF genes. The genetic basis, as yet unknown for most cases of WS type 2, might be found with further investigation.

  17. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

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    Tassabehji, M; Newton, V E; Read, A P

    1994-11-01

    Waardenburg syndrome type 2 (WS2) is a dominantly inherited syndrome of hearing loss and pigmentary disturbances. We recently mapped a WS2 gene to chromosome 3p12.3-p14.1 and proposed as a candidate gene MITF, the human homologue of the mouse microphthalmia (mi) gene. This encodes a putative basic-helix-loop-helix-leucine zipper transcription factor expressed in adult skin and in embryonic retina, otic vesicle and hair follicles. Mice carrying mi mutations show reduced pigmentation of the eyes and coat, and with some alleles, microphthalmia, hearing loss, osteopetrosis and mast cell defects. Here we show that affected individuals in two WS2 families have mutations affecting splice sites in the MITF gene.

  18. EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.

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    Issa, Sarah; Bondurand, Nadege; Faubert, Emmanuelle; Poisson, Sylvain; Lecerf, Laure; Nitschke, Patrick; Deggouj, Naima; Loundon, Natalie; Jonard, Laurence; David, Albert; Sznajer, Yves; Blanchet, Patricia; Marlin, Sandrine; Pingault, Veronique

    2017-02-24

    Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS types is based on additional features due to defects in structures mostly arising from the neural crest, with type I and type II being the most frequent. While type I is tightly associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with mutations in known genes (MITF, SOX10) accounting for only 30% of the cases. We performed exome sequencing in a WS2 index case and identified a heterozygous missense variation in EDNRB. Interestingly, homozygous (and very rare heterozygous) EDNRB mutations are already described in type IV WS (that is, in association with Hirschsprung disease) and heterozygous mutations in isolated Hirschsprung disease. Screening of a WS2 cohort led to the identification of an overall of 6 heterozygous EDNRB variations. Clinical phenotypes, pedigrees and molecular segregation investigations unraveled a dominant mode of inheritance with incomplete penetrance. In parallel, cellular and functional studies showed that each of the mutations impairs the subcellular localization of the receptor or induces a defective downstream signaling pathway. Based on our results, we now estimate EDNRB mutations to be responsible for 5-6% of WS2. This article is protected by copyright. All rights reserved.

  19. Candidate regions for Waardenburg syndrome type II: Search for a second WS locus

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    Nance, W.E.; Pandya, A.; Blanton, S.H. [VA Commonwealth Univ, Richmond, VA (United States)] [and others

    1994-09-01

    Waardenburg syndrome is an autosomal dominant disorder characterized by deafness and pigmentary abnormalities such as heterochromia of irides, hypopigmented skin patches, white forlock and premature graying. Clinically the syndrome has been classified into three types. Type II differs from type I in that dystopia canthorum is generally absent, and type III has associated limb anomalies. Recently linkage analysis localized the gene for WSI to chromosome 2q. PAX-3, which is a human analogue of the murine pax-3 locus, maps to this region and mutations in this gene have been found to segregate with WSI. However genetic heterogeneity clearly exists: most if not all WSII families are unlinked to PAX-3 while most if not all WSI cases are linked. We ascertained a four-year-old female child with an interstitial deletion of chromosome 13 who had features of WS including bilateral congenital sensorineural hearing loss, pale blue irides and pinched nostrils as well as hypertelorism microcephaly, bilateral eyelid ptosis, digitalization of thumbs and fifth finger clinodactyly. High resolution chromosomal analysis revealed a de novo interstitial deletion of 13q22-33.2. There was no family history of WS or retardation. A similar deletion in the region of 13q21-32 has been described in a 13-year-old boy with features of WSII. These two cases strongly suggested that this chromosomal region may include a second locus for WS. We have identified eight families with clinical features of WS type I which have been excluded from linkage to the PAX-3 locus. We have typed these families for microsatellite markers spanning chromosome 13. Linkage between WSII and the chromosome 13 markers was excluded in these families. Hirschsprung disease has been associated with WS and it has recently been mapped to chromosome 10q11.2-q21.1. We are currently typing the 8 families for microsatellites in this region.

  20. Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.

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    Yang, Shuzhi; Dai, Pu; Liu, Xin; Kang, Dongyang; Zhang, Xin; Yang, Weiyan; Zhou, Chengyong; Yang, Shiming; Yuan, Huijun

    2013-01-01

    Waardenburg Syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF) gene mutations account for about 15% of WS type II (WS2) cases. To date, fewer than 40 different MITF gene mutations have been identified in human WS2 patients, and few of these were of Chinese descent. In this study, we report clinical findings and mutation identification in the MITF gene of 20 Chinese WS2 patients from 14 families. A high level of clinical variability was identified. Sensorineural hearing loss (17/20, 85.0%) and heterochromia iridum (20/20, 100.0%) were the most commonly observed clinical features in Chinese WS2 patients. Five affected individuals (5/20, 25.0%) had numerous brown freckles on the face, trunk, and limb extremities. Mutation screening of the MITF gene identified five mutations: c.20A>G, c.332C>T, c.647_649delGAA, c.649A>G, and c.763C>T. The total mutational frequency of the MITF gene was 21.4% (3/14), which is significantly higher than the 15.0% observed in the fair-skinned WS2 population. Our results indicate that MITF mutations are relatively common among Chinese WS2 patients.

  1. Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.

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    Shuzhi Yang

    Full Text Available Waardenburg Syndrome (WS is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF gene mutations account for about 15% of WS type II (WS2 cases. To date, fewer than 40 different MITF gene mutations have been identified in human WS2 patients, and few of these were of Chinese descent. In this study, we report clinical findings and mutation identification in the MITF gene of 20 Chinese WS2 patients from 14 families. A high level of clinical variability was identified. Sensorineural hearing loss (17/20, 85.0% and heterochromia iridum (20/20, 100.0% were the most commonly observed clinical features in Chinese WS2 patients. Five affected individuals (5/20, 25.0% had numerous brown freckles on the face, trunk, and limb extremities. Mutation screening of the MITF gene identified five mutations: c.20A>G, c.332C>T, c.647_649delGAA, c.649A>G, and c.763C>T. The total mutational frequency of the MITF gene was 21.4% (3/14, which is significantly higher than the 15.0% observed in the fair-skinned WS2 population. Our results indicate that MITF mutations are relatively common among Chinese WS2 patients.

  2. The mutational spectrum in Waardenburg syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Read, A.P.; Tassabehji, M.; Liu, X.Z. [and others

    1994-09-01

    101 individuals or families with Waardenburg syndrome (WS) or related abnormalities have been screened for mutations in the PAX3 gene. PAX3 mutations were seen in 19 of 35 individuals or families with features of Type I Waardenburg syndrome. None of the 47 Type 2 WS families showed any PAX3 mutation, nor did any of 19 individuals with other neural crest syndromes or pigmentary disturbances. PAX3 mutations included substitutions of highly conserved amino acids, splice site mutations, nonsense mutations and frameshifting deletions or insertions. One patient (with Type 1 WS, mental retardation and growth retardation) had a chromosomal deletion of 7-8 Mb encompassing the PAX3 gene. Mutations were seen in each of exons 2-6, with a concentration in the 5{prime} part of the paired box (exon 2) and the 3{prime} part of the homeobox (exon 6). There was no evident relation between the molecular change and the clinical manifestations in mutation carriers. We conclude that PAX3 dosage effects very specifically produce dystopia canthorum, the distinguishing feature of Type 1 WS, and variably produce the other features of Type 1 WS depending on genetic background or chance events. Two of the Type 2 families showed linkage to markers from 3p14, the location of the MITF gene. MITF encodes a basic helix-loop-helix-zipper protein which is the homologue of the mouse microphthalmia gene product. It is likely that mutations in MITF cause some but not all Type 2 WS.

  3. STUDIES ON PATHOGENESIS OF WAARDENBURG SYNDROME TYPE ⅡAND TIETZ SYNDROME RESULTING FROM MITF GENE MUTATIONS

    Institute of Scientific and Technical Information of China (English)

    ZHANG Hua; LI Jiada; LUO Hunjin; CHEN Hongsheng; MEI Lingyun; HE Chufeng; JIANG Lu; FENG Yong

    2013-01-01

    Microphthalmia-associated transcription factor (MITF) controls melanocyte survival and differentiation through directly regulating the expression of the tyrosinase (TYR) and tyrosinase-related proteins 1 and 2 (TYRP1 and TYRP2) genes. MITF mutations have been reported to result in an abnormal melanocyte devel-opment and lead to Waardenburg syndrome type 2 (WS2), characterized by variable degrees of sensorineu-ral hearing loss and patchy regional distribution of hypopigmentation. Recently, MITF was also indicated as a causative gene for a more severe syndrome, the Tietz Syndrome (TS), characterized by generalized hy-popigmentation and complete hearing loss. However, few functional studies have been performed to com-pare the diseases-causing mutations. Here, we analyzed the in vitro activity of two recent identified WS2-as-sociated mutation (p.R217I and p.T192fsX18) and one TS-associated mutation p.N210K. The R217I MITF retained partial activity, normal DNA-binding ability and nuclear distribution, whereas the T192fsX18 MITF failed to activate TYR promoter due to loss of DNA-binding activity, and aberrant subcellular localization. The aberrant subcellular localization of T192fsX18 MITF may be caused by deletion of a putative nuclear localization signal (NLS) at aa 213-218 (ERRRRF). Indeed, MITF with deletion of the NLS fragment failed to translocate into the nucleus and activated the TYR promoter. Tagging this NLS to GFP promoted the green fluorescence protein (GFP) translocated into the nucleus. The surprising finding of our study is that a TS-as-sociated MITF mutation, N210K, showed comparable in vitro activity as WT. Thus, the possible involve-ment of MITF in TS and its underlying mechanisms still need further investigation.

  4. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)

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    Hoth, C.F.; Milunsky, A.; Lipsky, N.; Baldwin, C.T. (Boston Univ. School of Medicine, MA (United States)); Sheffer, R. (Hadassah-Hebrew Univ. Medical Center, Jerusalem (Israel)); Clarren, S.K. (Univ. of Washington School of Medicine, Seattle (United States))

    1993-03-01

    Waardenburg syndrome type I (WS-I) is an autosomal dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances, and other developmental defects. Klein-Waardenburg syndrome (WS-III) is a disorder with many of the same characteristics as WS-I and includes musculoskeletal abnormalities. The authors have recently reported the identification and characterization of one of the first gene defects, in the human PAX3 gene, which causes WS-I. PAX3 is a DNA-binding protein that contains a structural motif known as the paired domain and is believed to regulate the expression of other genes. In this report they describe two new mutations, in the human PAX3 gene, that are associated with WS. One mutation was found in a family with WS-I, while the other mutation was found in a family with WS-III. Both mutations were in the highly conserved paired domain of the human PAX3 gene and are similar to other mutations that cause WS. The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III. 36 refs., 4 figs.

  5. Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints on the diagnosis of dystopia canthorum.

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    Arias, S; Mota, M

    1978-06-01

    Two large pedigrees with Waardenburg syndrome type I (W--I), i.e. with dystopia canthorum and blepharophimosis, are described to show both the variable expressivity of dystopia canthorum, which may be confused with non-penetrance of this sign, and the possibility to firmly diagnosis it with the new biometric index W, which differentiates a dystopic from a non-dystopic or a non-apparent dystopic subject, the latter within a defined biometric range. A general discussion of the relative value of blepharophimosis and dystopia canthorum as diagnostic features in W--I is presented, to conclude on the greater value of dystopia canthorum, which can be identified with confidence in more than 96% of carriers. Empirical probabilities are given for dystopia canthorum and blepharophimosis in the general populations, based on data from the world literature, useful for all ethnic groups.

  6. Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations.

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    Jalilian, Nazanin; Tabatabaiefar, Mohammad Amin; Farhadi, Mohammad; Bahrami, Tayeb; Emamdjomeh, Hesam; Noori-Daloii, Mohammad Reza

    2015-12-15

    Waardenburg syndrome (WS) is a disease of abnormal neural-crest derived melanocyte development characterized by hearing loss and pigmentary disturbances in hair, eyes and skin. WS is subdivided into four major types, WS1-WS4, where WS1 is recognized by the presence of dystopia canthorum, with PAX3 being the only known gene involved. This study aimed at investigating PAX3 mutations and clinical characteristics of WS1 in a group of Iranian patients. A total of 12 WS1 patients from four unrelated Iranian families were enrolled. Waardenburg consortium guidelines were used for WS1 diagnosis. A detailed family history was traced and a thorough clinical examination was performed for all participants. Furthermore, WS1 patients underwent screening for PAX3 mutations using PCR-sequencing. Dystopia canthorum, broad high nasal root and synophrys were observed in all patients. Early graying, hair discoloration, hypoplastic blue eyes (characteristic brilliant blue iris) and hearing loss were the most common features observed, while heterochromia iridis was the least frequently observed sign among the studied Iranian WS1 patients. Genetic analysis of PAX3 revealed four mutations including c.667C>T, c.784C>T, c.951delT and c.451+3A>C. Two of the four mutations reported here (c.951delT and c.451+3A>C) are being reported for the first time in this study. Our data provide insight into genotypic and phenotypic spectrum of WS1 in an Iranian series of patients. Our results expand the spectrum of PAX3 mutations and may have implications for the genetic counseling of WS in Iran.

  7. X-linked albinism-deafness syndrome and Waardenburg syndrome type II: A hypothesis

    Energy Technology Data Exchange (ETDEWEB)

    Zlotogora, J. [Hadassah Univ. Hospital, Jerusalem (Israel)

    1995-11-20

    Margolis reported on a large pedigree with a {open_quotes}new{close_quotes} X-linked syndrome of profound deafness and albinism (MIM 300700, albinism-deafness syndrome). The affected males presented with profound deafness and severe pigmentary abnormalities of the skin. At birth the skin appeared as almost albinotic except for areas of light pigmentation over the gluteal and scrotal areas, and thereafter pigmentation gradually increased over the body. Skin changes ultimately included areas of hypopigmentation and spots of hyperpigmentation. Some of the affected males also had blue irides, heterochromia, or segmental color iris changes. In carrier females, variable hearing impairment was documented without any pigmentary changes. 9 refs., 1 fig.

  8. Waardenburg's syndrome: case reports in two Nigerians.

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    Amoni, S S; Abdurrahman, M B

    1979-01-01

    We saw two cases of Waardenburg's syndrome in Nigerian children. A 9-year-old girl had congenital deaf-mutism, high-arched palate, complete heterochromia iridis with pigment mottling in the posterior pole of the eye with the hypochromic iris, dyspigmented frontal scalp hair, a history of vitiligo, but with no dystopia canthorum. An 11-year-old boy had a harelip with cleft palate, heterochromia iridis, blonde fundus on the eye with blue iris, and dystopia canthorum.

  9. Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Baldwin, C.T.; Hoth, C.F.; Milunsky, A. [Boston Univ. School of Medicine, MA (United States)] [and others

    1995-08-28

    Waardenburg syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, and pigmentary disturbances, and it represents the most common form of inherited deafness in infants. WS type I is characterized by the presence of dystopia canthorum, while individuals with WS type II have normally-located canthi. WS type III is similar to WS type I but is also characterized by musculoskeletal abnormalities. Defects in the PAX3 gene, a transcription factor expressed during embryonic development, have been shown to cause WS types I and III in several families. In contrast, mutations in PAX3 do not cause WS type II, and linkage of the disease to other chromosomal regions has been demonstrated. We describe 10 additional mutations in the PAX3 gene in families with WS type I. Eight of these mutations are in the region of PAX3, where only one mutation has been previously described. These mutations, together with those previously reported, cover essentially the entire PAX3 gene and represent a wide spectrum of mutations that can cause WS type I. Thus far, all but one of the mutations are private; only one mutation has been reported in two apparently unrelated families. Our analysis thus far demonstrates little correlation between genotype and phenotype; deletions of the entire PAX3 gene result in phenotypes indistinguishable from those associated with single-base substitutions in the paired domain or homeodomain of PAX3. Moreover, two similar mutations in close proximity can result in significantly different phenotypes, WS type I in one family and WS type III in another. 47 refs., 3 figs., 5 tabs.

  10. A locus for Waardenburg syndrome type II maps to chromosome 1p13.3-2.1

    Energy Technology Data Exchange (ETDEWEB)

    Lalwani, A.K.; San Agustin, T.B.; Wilcox, E.R. [LMG, Bethesda, MD (United States)] [and others

    1994-09-01

    Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes and distinctive facial features. WS type I (WS1) is characterized by a high frequency of dystopia canthorum whereas WS type II (WS2) individuals have normal inter canthal distances. Previous studies have shown that WS1 is caused by mutations in the PAX3 gene on chromosome 2q whereas WS2 is unlinked to PAX3. However, analyses of WS2 families have been complicated by the possibility of misdiagnosis of secondary cases with mild features of WS2. We initiated a genome search in 8 WS2 families. Suggestive evidence for linkage to D1S248 and AMY2B was found in one family (both markers: Z-max=2.4 at {Theta}=0), to D1S485 and D1S495 in a second family (both markers: Z-max=2.2 at {Theta}=0), and to D1S248 in a third family (Z-max=1.1 at {Theta}=.11). WS2 was not linked to any of these markers in the total group of families. Location scores for each family were calculated by a six-locus analysis using the marker map AMY2B/D1S486 - .03 - D1S495 - .02 - D1S248 - .05 - D1S457 - .04 - D1S250. Assessment of these scores for linkage and heterogeneity using the admixture test revealed significant evidence for linkage (P<.0001) under the assumption of heterogeneity ({alpha}=.40). The most likely location for WS2 is at D1S495, although either of the intervals flanking this marker may contain the mutant gene. All other locations were ruled out with odds of greater than l00 to 1. Our findings suggest that there are at least two loci for WS type II. Complementary crossovers in the linked families make feasible attempts to narrow the location of the WS2 gene by positional cloning. Analyses of additional families will be needed to estimate more precisely the proportion of linked families and identify the gene.

  11. [Mutation screening of MITF gene in patients with Waardenburg syndrome type 2].

    Science.gov (United States)

    Chen, Jing; Yang, Shu-Zhi; Liu, Jun; Han, Bing; Wang, Guo-Jian; Zhang, Xin; Kang, Dong-Yang; Dai, Pu; Young, Wie-Yen; Yuan, Hui-Jun

    2008-04-01

    Warrgenburg syndrome type 2 (WS2) is the most common autosomal dominantly-inherited syndrome with hearing loss. MITF (microphthalmia associated transcription factor)is a basic-helix-loop-helix-luecine zipper (bHLHZip) factor which regulates expression of tyrosinase, and is involved in melanocyte differentiation. Mutations in MITF associated with WS2 have been identified in some but not all affected families. Here, we report a three-generation Chinese family with a point mutation in the MITF gene causing WS2. The proband exhibits congenital severe sensorineural hearing loss, heterochromia iridis and facial freckles. One of family members manifests sensorineural deafness, and the other patients show premature greying or/and freckles. This mutation, heterozygous deletion c.639delA, creates a stop codon in exon 7 and is predicted to result in a truncated protein lacking normal interaction with its target DNA motif. This mutation is a novel mutation and the third case identified in exon 7 of MITF in WS2. Though there is only one base pair distance between this novel mutation and the other two documented cases and similar amino acids change, significant difference is seen in clinical phenotype, which suggests genetic background may play an important role.

  12. Waardenburg- Shah Syndrome; A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Fatemeh Egbalian

    2008-04-01

    Full Text Available Objective: Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary anomalies and defects of neural- crest- derived tissues. Depending on additional symptoms, WS is classified into four types, WS1, WS2, WS3 and WS4. Waardenburg syndrome type 4, also called Waardenburg- Shah syndrome, is a very rare congenital disorder with variable clinical expression, characterised by Hirschsprung disease, and abnormal melanocyte migration, resulting in pigmentary abnormalities and sensorineural deafness. Case Presentation: This report describes a five-day-old female newborn with Waardenburgs syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entitiesConclusion: Different symptoms of Waardenburg syndrome appear in different people. Some individuals will require no treatment, while other may need treatment or surgery for other abnormalities. Our case had other unusual feature (bilateral external ear agenesis we did not find any similar finding in review the relevant literature.

  13. Asymmetric severity of diabetic retinopathy in Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Kashima T

    2011-12-01

    Full Text Available Tomoyuki Kashima, Hideo Akiyama, Shoji KishiDepartment of Ophthalmology, Gunma University School of Medicine, Gunma 371-8511, JapanAbstract: A 30-year-old female patient was referred to our institution due to vitreous hemorrhage. Best corrected visual acuity of her right and left eyes at her initial visit was 10/20 and 20/20, respectively. Although hypochromic iris was observed in the superior iris between the 10 and 2 o’clock positions in her right eye, her entire left eye exhibited hypochromic iris. Hypopigmentation of the fundus was seen in the superior part of her right eye. This eye also had a huge neovascularization on the optic disc that was 7 discs in diameter. Conversely, her left fundi showed hypopigmentation of the fundus in the entire region of the left eye, and dot hemorrhages were observed all over the left fundi, although no neovascularization could be seen microscopically. Fluorescein angiography showed a huge neovascularization in the right eye and a tiny neovascularization in the left eye. Gene analysis revealed the presence of the PAX3 gene homeobox domain mutation, which led to her being diagnosed as Waardenburg syndrome type 1. Magnetic resonance angiography showed there was no obstructive region at either of the internal carotid arteries and ophthalmic arteries. The severity of the diabetic retinopathy appeared to be correlated with the degree of hypopigmentation in the posterior fundus. We speculate that hypopigmentation of the fundus in Waardenburg syndrome may be responsible for the reduction in retinal metabolism, which led to a reduction in oxygen consumption and prevented further aggravation of the diabetic retinopathy. Only laser treatments using short wavelengths was effective in this case. While the extinction coefficient for hemoglobin when using green light is higher than when using yellow light, the differences between these wavelengths tend to disappear when oxygenated hemoglobin is present. To the best of

  14. WAARDENBURG'S SYNDROME AND HETEROCHROMIA IRIDUM IN A DEAF SCHOOL POPULATION.

    Science.gov (United States)

    PARTINGTON, M W

    1964-04-25

    Waardenburg's syndrome consists of lateral displacement of the inner canthi of the eyes (dystopia canthorum), a broad nasal root and confluent eyebrows, heterochromia iridum, a white forelock and congenital deafness. The syndrome is inherited as a dominant, but affected individuals do not necessarily have all of the characteristics cited.Five hundred and fourteen pupils at a school for the deaf were screened for features of this syndrome. Three cases were discovered. Eleven other deaf children were found to have heterochromia iridum and two more had white forelocks. The interocular dimensions of the remaining children were recorded as standards by which to judge the presence of dystopia canthorum. The results of chromosomal analysis in two cases with Waardenburg's syndrome were normal.The findings provide further evidence that Waardenburg's syndrome is a distinct entity and call in question Mackenzie's concept of a comprehensive "first arch syndrome".

  15. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... types of cells, including pigment-producing cells called melanocytes . Melanocytes make a pigment called melanin, which contributes to ... of these genes disrupt the normal development of melanocytes, leading to abnormal pigmentation of the skin, hair, ...

  16. Hörrehabilitation mittels Cochlea Implantat bei Waardenburg Syndrom

    OpenAIRE

    Friese, N; Braun, K; Fehr, S.; Biskup, S.; Tropitzsch, A

    2016-01-01

    Einleitung: Das Waardenburg Syndrom ist ein überwiegend autosomal dominant vererbtes Krankheitsbild, das sich durch eine uni- oder bilaterale sensorineurale Schwerhörigkeit auszeichnet und bis zu 5 % der Fälle angeborener Schwerhörigkeit ausmacht. Die Gene, die beim Waardenburg Syndrom eine Rolle spielen, sind PAX3 (Typ I und III), MITF und SNAI2 (Typ II), SOX10 (Typ II und IV) sowie EDN3 und EDNRB (Typ IV). Über die funktionellen Ergebnisse nach Cochlea Implantation ist bisher noch wenig be...

  17. [A case report on Waardenburg syndrome with cleft lip].

    Science.gov (United States)

    Traoré, H; Traoré, D; Ouane, O; Simpara, B; Ongoiba, N

    2011-01-01

    The syndrome of Waardenburg is a congenital plurimal formatif unit rare described and individualized for the first time by Waardenburg in 1951. It associates in its form most typical dystopie canthale intern, a widening of the base of the nose, disorders of the pigmentation. We wanted brought back this case because of its scarcity. It was about a 18 month old infant without particular antecedents, which was drawn up to us for correction of congenital malformation. The interrogation did not make it possible to find signs functional notable. With the examination it had a general good state. t presented a bilateral iridal hypochromy, a dystopie canthale, a canitie, a bilateral labial slit. The diagnosis of presumption was the Syndrome of Waardenburg because of the description of at least 2 major signs: dystopie canthale and disorders of the pigmentation. The complementary examinations carried out were those of the preoperative assessment which returned normal. The biological diagnosis which rests on the search for change of gene was not made for reasons of technical order and financier. The surgery is centered on the treatment of the labial slit. A chéiloplastie according to Millard was carried out. The continuations were simple. The Syndrome of Waardenburg is a rare, hereditary entity. A neurosensory deafness, musculo-skeletal anomalies, thus qu' a disease of Hirschsprung will have to be systematically required. The surgery of the slit or the télécanthus allows an social integration of the subjects reached.

  18. Audiological outcomes of cochlear implantation in Waardenburg Syndrome

    Directory of Open Access Journals (Sweden)

    Magalhães, Ana Tereza de Matos

    2014-01-01

    Full Text Available Introduction: The most relevant clinical symptom in Waardenburg syndrome is profound bilateral sensorioneural hearing loss. Aim: To characterize and describe hearing outcomes after cochlear implantation in patients with Waardenburg syndrome to improve preoperative expectations. Method: This was an observational and retrospective study of a series of cases. Children who were diagnosed with Waardenburg syndrome and who received a multichannel cochlear implant between March 1999 and July 2012 were included in the study. Intraoperative neural response telemetry, hearing evaluation, speech perception, and speech production data before and after surgery were assessed. Results: During this period, 806 patients received a cochlear implant and 10 of these (1.2% were diagnosed with Waardenburg syndrome. Eight of the children received a Nucleus 24® implant and 1 child and 1 adult received a DigiSonic SP implant. The mean age at implantation was 44 months among the children. The average duration of use of a cochlear implant at the time of the study was 43 months. Intraoperative neural responses were present in all cases. Patients who could use the speech processor effectively had a pure tone average of 31 dB in free-field conditions. In addition, the MUSS and MAIS questionnaires revealed improvements in speech perception and production. Four patients did not have a good outcome, which might have been associated with ineffective use of the speech processor. Conclusion: Despite the heterogeneity of the group, patients with Waardenburg syndrome who received cochlear implants were found to have hearing thresholds that allowed access to speech sounds. However, patients who received early intervention and rehabilitation showed better evolution of auditory perception.

  19. Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations : A case report and review of the literature

    NARCIS (Netherlands)

    Verheij, Johanna B G M; Sival, Deborah A; van der Hoeven, Johannes H; Vos, Yvonne J; Meiners, Linda C; Brouwer, Oebele F; van Essen, Anthonie J

    2006-01-01

    Shah-Waardenburg syndrome is a rare congenital disorder with variable clinical expression, characterised by aganglionosis of the rectosigmoid (Hirschsprung disease), and abnormal melanocyte migration, resulting in pigmentary abnormalities and sensorineural deafness (Waardenburg syndrome). Mutations

  20. A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type

    Institute of Scientific and Technical Information of China (English)

    Xukun Yan; Tianyu Zhang; Zhengmin Wang; Yi Jiang; Yan Chen; Hongyan Wang; Duan Ma; Lei Wang; Huawei Li

    2011-01-01

    Waardenburg syndrome type Ⅱ (WS2) is associated with syndromic deafness.A subset of WS2,WS2A,accounting for approximately 15% of patients,is attributed to mutations in the microphthalmia-associated transcription factor (MITF) gene.We examined the genetic basis of WS2 in a large Chinese family.All 9 exons of the MITF gene,the single coding exon (exon 2) of the most common hereditary deafness gene GJB2 and the mitochondrial DNA (mtDNA) 12S rRNA were sequenced.A novel heterozygous mutation c.[742_743delAAinsT;746_747delCA]in exon 8 of the MITF gene co-segregates with WS2 in the family.The MITF mutation results in a premature termination codon and a truncated MITF protein with only 247 of the 419 wild type amino acids.The deaf proband had this MITF gene heterozygous mutation as well as a c.[ 109G>A]+[235delC]compound heterozygous pathogenic mutation in the GJB2 gene.No pathogenic mutation was found in mtDNA 12S rRNA in this family.Thus,a novel compound heterozygous mutation,c.[742_743delAAinsT;746_747delCA]in MITF exon 8 was the key genetic reason for WS2 in this family,and a digenic effect of MITF and GJB2 genes may contribute to deafness of the proband.

  1. Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes

    Energy Technology Data Exchange (ETDEWEB)

    Farrer, L.A.; Hoth, C. [Boston Univ. School of Medicine, MA (United States); Arnos, K.S. [Galludet Univ., Washington, DC (United States); Asher, J.H. Jr.; Friedman, T.B. [Michigan State Univ., East Lansing, MI (United States); Grundfast, K.M.; Lalwani, A.K. [National Institute on Deafness and Other Communication Disorders, Bethesda, MD (United States); Greenberg, J. [Univ. of Cape Town (South Africa); Diehl, S.R. [and others

    1994-10-01

    Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is differentiated from WS type II (WS2) by the high frequency of dystopia canthorum in the family. In some families, WS is caused by mutations in the PAX3 gene on chromosome 2q. We have typed microsatellite markers within and flanking PAX3 in 41 WS1 kindreds and 26 WS2 kindreds in order to estimate the proportion of families with probable mutations in PAX3 and to study the relationship between phenotypic and genotypic heterogeneity. Evaluation of heterogeneity in location scores obtained by multilocus analysis indicated that WS is linked to PAX3 in 60% of all WS families and in 100% of WS1 families. None of the WS2 families were linked. In those families in which equivocal lod scores (between -2 and +1) were found, PAX3 mutations have been identified in 5 of the 15 WS1 families but in none of the 4 WS2 families. Although preliminary studies do not suggest any association between the phenotype and the molecular pathology in 20 families with known PAX3 mutations and in four patients with chromosomal abnormalities in the vicinity of PAX3, the presence of dystopia in multiple family members is a reliable indicator for identifying families likely to have a defect in PAX3. 59 refs., 3 figs., 5 tabs.

  2. Waardenburg Syndrome: A Report of Two Familial Case Series

    Directory of Open Access Journals (Sweden)

    Safal Khanal, BOptom

    2013-12-01

    Full Text Available Background: Waardenburg syndrome is a rare autosomally-inherited developmental disorder characterized by sensorineural deafness in association with pigmentary anomalies comprising various ocular features including dystopia canthorum, iris heterochromia, eyebrow flare, and fundus alterations. It is a congenital non-progressive genetic disorder that has been found to result in hearing loss, reduced vision, reduced self esteem, problems related to appearance, and decreased intellectual functioning.Case Reports: We report two familial case series that presented with the characteristic ocular findings and the systemic features of Waardenburg syndrome. The first series comprised a 32-year-old father with his two sons aged nine and six years. Two female siblings, aged 10 and eight years, both with cochlear implants, were included in the second series.Conclusion: Waardenburg syndrome manifests differently with dissimilar genetic penetration even within the same family. Some individuals will require no treatment, while others may need treatment or surgery for other abnormalities. Appropriate measures can be undertaken to negotiate the disabilities resulting from the ocular conditions associated with this syndrome.

  3. [CT findings of the temporal bones in Waardenburg's syndrome].

    Science.gov (United States)

    Irie, K; Ogata, H; Mitsudome, A

    1990-05-01

    We reported three cases of Waardenburg's syndrome and discussed CT findings of the temporal bones. Two cases of these patients were mother and daughter. Case 1, a two-year-old girl, had lateral displacement of the medial canthi, a broad nasal root, hetero-chromic iridis, left ptosis, albinotic fundus, and bilateral congenital deafness. CT findings of the temporal bones showed enlarged vestibules, short lateral semicircular canal, and absent right posterior semicircular canal. The mother had congenital deafness, heterochromia iridis, and a white forelock and showed similar abnormal CT findings of the temporal bones. Case 2, a one-year-old boy, had lateral displacement of the medial canthi, a broad nasal root, partial heterochromia iridis, albinotic fundus, and bilateral congenital deafness. CT findings of the temporal bones showed enlarged vestibules and absence of semicircular canals except the right lateral semicircular canal. These cases were diagnosed as Waardenburg's syndrome on the basis of the characteristic features.

  4. Multimodal Ultrawide-Field Imaging Features in Waardenburg Syndrome.

    Science.gov (United States)

    Choudhry, Netan; Rao, Rajesh C

    2015-06-01

    A 45-year-old woman was referred for bilateral irregular fundus pigmentation. Dilated fundus examination revealed irregular hypopigmentation posterior to the equator in both eyes, confirmed by fundus autofluorescence. A thickened choroid was seen on enhanced-depth imaging spectral-domain optical coherence tomography (EDI SD-OCT). Systemic evaluation revealed sensorineural deafness, telecanthus, and a white forelock. Further investigation revealed a first-degree relative with Waardenburg syndrome. Waardenburg syndrome is characterized by a group of features including telecanthus, a broad nasal root, synophrys of the eyebrows, piedbaldism, heterochromia irides, and deafness. Choroidal hypopigmentation is a unique feature that can be visualized with ultrawide-field fundus autofluorescence. The choroid may also be thickened and its thickness measured with EDI SD-OCT.

  5. Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A

    Energy Technology Data Exchange (ETDEWEB)

    Nobukuni, Yoshitaka; Watanabe, A.; Takeda, Kazushisa; Skarka, Hana; Tachibana, Masayoshi [National Inst. of Health, Bethesda, MD (United States)

    1996-07-01

    Waardenburg syndrome type 2 (WS2) is a dominantly inherited disorder characterized by a pigmentation anomaly and hearing impairment due to lack of melanocyte. Previous work has linked a subset of families with WS2 (WS2A) to the MITF gene that encodes a transcription factor with a basic-helix-loop-helix-leucine zipper (bHLH-Zip) motif and that is involved in melanocyte differentiation. Several splice-site and missense mutations have been reported in individuals affected with WS2A. In this report, we have identified two novel point mutations in the MITF gene in affected individuals from two different families with WS2A. The two mutations (C760{r_arrow}T and C895{r_arrow}T) create stop codons in exons 7 and 8, respectively. Corresponding mutant alleles predict the truncated proteins lacking HLH-Zip or Zip structure. To understand how these mutations cause WS2 in heterozygotes, we generated mutant MITF cDNAs and used them for DNA-binding and luciferase reporter assays. The mutated MITF proteins lose the DNA-binding activity and fail to transactivate the promoter of tyrosinase, a melanocyte-specific enzyme. However, these mutated proteins do not appear to interfere with the activity of wild-type MITF protein in these assays, indicating that they do not show a dominant-negative effect. These findings suggest that the phenotypes of the two families with WS2A in the present study are caused by loss-of-function mutations in one of the two alleles of the MITF gene, resulting in haploinsufficiency of the MITF protein, the protein necessary for normal development of melanocytes. 37 refs., 4 figs.

  6. Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome.

    Science.gov (United States)

    Arimoto, Yukiko; Namba, Kazunori; Nakano, Atsuko; Matsunaga, Tatsuo

    2014-05-01

    Waardenburg syndrome is characterized by hearing loss, pigmentation abnormalities, dysmorphologic features, and neurological phenotypes. Waardenburg syndrome consists of four distinct subtypes, and SOX10 mutations have been identified in type II and type IV. Type IV differs from type II owing to the presence of Hirschsprung disease. We identified a de novo nonsense mutation in SOX10 (p.G39X) in a female pediatric patient with Waardenburg syndrome with heterochromia iridis, profound bilateral sensorineural hearing loss, inner ear malformations, and overall hypopigmentation of the hair without dystopia canthorum. This patient has experienced chronic constipation since she was a neonate, but anorectal manometry showed a normal anorectal reflex. Chronic constipation in this patient was likely to be a consequence of a mild intestinal disorder owing to the SOX10 mutation, and this patient was considered to have a clinical phenotype intermediate between type II and type IV of the syndrome. Chronic constipation may be recognized as indicative of a SOX10 mutation in patients with Waardenburg syndrome.

  7. Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.

    Science.gov (United States)

    Chen, Hongsheng; Jiang, Lu; Xie, Zhiguo; Mei, Lingyun; He, Chufeng; Hu, Zhengmao; Xia, Kun; Feng, Yong

    2010-06-18

    Waardenburg syndrome (WS) is a rare disorder characterized by distinctive facial features, pigment disturbances, and sensorineural deafness. There are four WS subtypes. WS1 is mostly caused by PAX3 mutations, while MITF, SNAI2, and SOX10 mutations are associated with WS2. More than 100 different disease-causing mutations have been reported in many ethnic groups, but the data from Chinese patients with WS remains poor. Herein we report 18 patients from 15 Chinese WS families, in which five cases were diagnosed as WS1 and the remaining as WS2. Clinical evaluation revealed intense phenotypic variability in Chinese WS patients. Heterochromia iridis and sensorineural hearing loss were the most frequent features (100% and 88.9%, respectively) of the two subtypes. Many brown freckles on normal skin could be a special subtype of cutaneous pigment disturbances in Chinese WS patients. PAX3, MITF, SNAI2, and SOX10 genes mutations were screened for in all the patients. A total of nine mutations in 11 families were identified and seven of them were novel. The SOX10 mutations in WS2 were first discovered in the Chinese population, with an estimated frequency similar to that of MITF mutations, implying SOX10 is an important pathogenic gene in Chinese WS2 cases and should be considered for first-step analysis in WS2, as well as MITF.

  8. Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type I in two families

    Energy Technology Data Exchange (ETDEWEB)

    Lalwani, A.K.; Brister, J.R.; Fex, J.; Grundfast, K.M.; Ploplis, B.; San Agustin, T.B.; Wilcox, E.R. [National Institute on Deafness and Other Communication Disorders, Bethesda, MD (United States)

    1995-01-01

    Waardenburg syndrome is an autosomal dominant disorder characterized by sensorineural deafness and pigmentary disturbances. Previous work has linked the disease to PAX3 on chromosome 2, and several mutations within the highly conserved paired-box and octapeptide motifs, but not the homeobox, have been reported. In this report, we have used the published cDNA sequence to further define the genomic structure of PAX3, using inverse PCR. We have identified exon/intron boundaries between exons 5 and 6 and between exons 6 and 7. Further, we have identified the first two mutations within the homeobox in two different families with type 1 Waardenburg syndrome. The first is a point mutation (G{yields}T) at the first base of exon 6, which substitutes phenylalanine for valine. In another family, we have identified a point mutation (C{yields}G) within the homeobox, in exon 6, which substitutes a glycine for arginine at a highly conserved site. The homeodomain is important in binding of DNA and in effecting transcriptional control. These mutations likely result in structural change within the homeodomain that either change the DNA-binding specificity of the homeodomain or reduce the affinity of the PAX3 protein for DNA. These homeodomain mutations should aid in elucidating the role of the homeodomain in the function of the PAX3 protein. 46 refs., 5 figs., 2 tabs.

  9. Allelic mutations of KITLG, encoding KIT ligand, cause asymmetric and unilateral hearing loss and Waardenburg syndrome type 2

    NARCIS (Netherlands)

    Zazo Seco, C. (Celia); Serrão De Castro, L. (Luciana); J.W.I. van Nierop; Morín, M. (Matías); Jhangiani, S. (Shalini); Verver, E.J.J. (Eva J.J.); M. Schraders (Margit); Maiwald, N. (Nadine); Wesdorp, M. (Mieke); H. Venselaar (Hanka); L. Spruijt (Liesbeth); Oostrik, J. (Jaap); J. Schoots (Jeroen); J. van Reeuwijk (Jeroen); Lelieveld, S.H. (Stefan H.); P.L.M. Huygen (Patrick); Insenser, M. (María); R.J. Admiraal (Ronald); Pennings, R.J.E. (Ronald J.E.); E.H. Hoefsloot (Lies); A. Arias-Vásquez (Alejandro); J. de Ligt (Joep); H.G. Yntema; Jansen, J.H. (Joop H.); D. Muzny (Donna); G. Huls (Gerwin); M.M. van Rossum; Lupski, J.R. (James R.); Moreno-Pelayo, M.A. (Miguel Angel); Kunst, H.P.M. (Henricus P.M.); H. Kremer (Hannie)

    2015-01-01

    textabstractLinkage analysis combined with whole-exome sequencing in a large family with congenital and stable non-syndromic unilateral and asymmetric hearing loss (NS-UHL/AHL) revealed a heterozygous truncating mutation, c.286-303delinsT (p.Ser96Ter), in KITLG. This mutation co-segregated with NS-U

  10. A new method for telecanthus correction in Waardenburg syndrome.

    Science.gov (United States)

    Lessa, S; Carreirão, S

    1981-06-01

    Waardenburg syndrome is characterized by lateral displacement of the medial canthi and lacrimal puncta, a broad nasal root, poliosis, heterochromia iridis, hyperplasia of the medial portion of the eyebrows, and congenital sensorineural deafness. As a group, these symptoms rarely occur in one individual, so care must be taken not to confuse an isolated condition with the syndrome. Of all the manifestations, the authors believe the lateral displacement of the medial canthi is the key factor in making a diagnosis. Sensorineural deafness is the most handicapping symptom. Surgical treatment is indicated for the correction of dystopia canthorum. We present a technique based on a double Z-plasty and nasal transfixion, plus attachment of the medial canthal tendons according to the techniques of Callahan and Mustardé.

  11. Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome.

    Science.gov (United States)

    Ishaq, Mazhar; Niazi, Muhammad Khizar; Khan, Muhammad Saim; Nadeem, Yasser

    2015-04-01

    Albinism is an inherited abnormality of melanin synthesis with incidence of one per 20,000 births. Its clinical manifestations are related to the reduction or absence of pigmentation in the visual system and/or the skin and teguments. The clinical spectrum of Oculocutaneous Albinism (OCA) has four types ranging from OCA 1 - 4, of which OCA 1, A-1 is the most severe form. Partial cutaneous albinism which is a subtype of OCA is associated with systemic immunodeficiency disorders like Chediak Higashi (CHS), Griscelli (GS) and Hermansky-Pudlak (HPS) syndromes. A7 years boy was labeled initially as a case of Hermansky Pudlak syndrome at the age of 01 year. He as well as his 4 years old younger brother when examined in detail along with audiological investigations were diagnosed as a rare presentation of both Hermansky Pudlak and Waardenburg's syndrome.

  12. A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease.

    Science.gov (United States)

    Wang, D; Ren, G F; Zhang, H Z; Yi, C Y; Peng, Z J

    2016-12-02

    Reports of terminal and interstitial deletions of the long arm of chromosome 2 are rare in the literature. Here, we present a case report concerning a Chinese boy with a 47,XYY karyotype and a de novo deletion comprising approximately 5 Mb between 2q35 and q36.1, along with syndactyly, type III Waardenburg syndrome, and congenital heart disease. High-resolution chromosome analysis to detect copy number variations was carried out using an Affymetrix microarray platform, and the genes affected by the patient's deletion, including IHH, were determined. However, no copy number changes were observed in his healthy parents. The present case exhibited novel syndactyly features, broadening the spectrum of clinical findings observed in individuals with 2q interstitial deletions. Our data, together with previous observations, suggest that IHH haploinsufficiency is the principal pathogenic factor in the syndactyly phenotype in this study, and that different types of variations at the IHH locus may cause divergent disease phenotypes. This is the first report of the involvement of IHH haploinsufficiency in syndactyly phenotype.

  13. A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.

    Science.gov (United States)

    Morell, R; Friedman, T B; Moeljopawiro, S; Hartono; Soewito; Asher, J H

    1992-07-01

    Waardenburg syndrome type 1 (WS1) is an autosomal dominant disorder characterized by deafness, dystopia canthorum, heterochromia iridis, white forelock, and premature greying. A similar phenotype is caused in the mouse by mutations in the Pax-3 gene. This observation, together with comparisons of conserved syntenies in the murine and human genetic maps, suggested that at least some WS1 mutations should occur in HuP2, the probable human homolog of Pax-3. Two mutations in the HuP2 sequence of individuals with WS1 have been reported recently. Both of them occur in the highly conserved paired box region of the gene, which encodes a DNA binding domain. The functional consequences of these mutations are at present speculative. We report here a 14 bp deletion in the paired domain encoded by exon 2 of HuP2 in an Indonesian family segregating for WS1. This frameshift mutation results in a premature termination codon in exon 3. The HuP2 product is a truncated protein lacking most of the paired domain and all of the predicted homeo domain. We propose that the WS1 phenotype in this family is due to loss of function of HuP2 and discuss two mechanisms for the dominant effect of this mutation.

  14. Síndrome de Waardenburg: achados audiológicos em 2 irmãos Waardenburg's syndrome: audiological findings in 2 brothers

    Directory of Open Access Journals (Sweden)

    Carlos Henrique F. Martins

    2003-01-01

    Full Text Available A síndrome de Waardenburg foi inicialmente descrita em 1951 por P.J. Waardenburg, como uma condição autossômica dominante que apresenta penetrância e expressividade variáveis de seus caracteres. Os sinais clínicos mais frequentes são: deslocamento lateral dos cantos internos dos olhos (telecanto, hiperplasia da porção medial dos supercílios (sinofris, base nasal proeminente e alargada, alterações na pigmentação da íris e da pele, surdez congênita, mecha branca frontal ou encanecimento precoce. Este estudo foi realizado em dois irmãos de uma família, que apresentavam características clínicas da síndrome de Waardenburg, entre elas a deficiência auditiva. Os pacientes foram submetidos à uma avaliação otorrinolaringológica, audiológica e genética.Waardenburg's Syndrome, first described in 1951 by P.J. Waardenburg, is an autossomal dominant condition with variable penetrance and expressivity of its features. The clinical signs are lateral displacement of the inner canthi of the eyes, confluent eyebrows, broad and prominent nasal root, pigmentation changes of the irises and skin, sensorineural deafness, white forelock or early graying of the hair. This study was based on two brothers who presented a typical clinical picture of Waardenburg's Syndrome, including hearing loss. Otolaryngological, audiological and genetical evaluations were conducted.

  15. Cochlear implantations in children with Waardenburg syndrome: an electrophysiological and psychophysical review.

    Science.gov (United States)

    Pau, Henry; Gibson, William P R; Gardner-Berry, Kirsty; Sanli, Halit

    2006-12-01

    Waardenburg syndrome presents with dystopia canthorum, pigmentary abnormalities of hair, iris and skin (often a white forelock and heterochromia iridis) and sensorineural deafness. The authors review the electrophysiological and psychophysical findings of implanted children with Waardenburg syndrome at the Sydney Cochlear Implant Centre. Twenty children with Waardenburg syndrome received cochlear implants between 1985 and 2001. Electrical auditory brainstem response (EABR) was performed in all of these patients intra-operatively as part of the routine investigations. Only 13 of these patients were assessed one year or more post-operatively by means of the Melbourne Categories (0-7). Four patients (20%) were found to have abnormal EABR recordings. The mode of Melbourne Categories in this group (n = 3) was 1 at one year post-operation. The other 16 patients were found to have normal EABR and the mode of Melbourne Categories in this group (n = 10) was 7. A poor outcome after cochlear implantation was associated with abnormal EABR recordings (a 'true' auditory neuropathy) and was found in a significant proportion of patients with Waardenburg syndrome.

  16. Cochlear implantation outcomes in children with Waardenburg syndrome.

    Science.gov (United States)

    Amirsalari, Susan; Ajallouyean, Mohammad; Saburi, Amin; Haddadi Fard, Adel; Abed, Maryam; Ghazavi, Yasaman

    2012-10-01

    Waardenburg syndrome (WS) is an autosomal dominant disease, characterized by dystopia canthorum, hyperplasia of the eyebrows, heterochromia iridis, white forelock, and congenital sensori-neural hearing loss (SNHL). The aim of this study was to evaluate the outcome of cochlear implantation in children with WS and compare it with children with pure SNHL. In a prospective study we evaluated 336 cochlear implanted children from 2008 to 2010. The WS was diagnosed by its established criteria and for control group children without any dysmorphic features, anatomical, behavioral, and developmental disorders were also enrolled. We evaluated children of both groups 1 year after cochlear implantation by categories of auditory performance (CAP) and speech intelligibility rating (SIR) tests. Eighty-one children out of the total 336 who had SNHL were included in study. Out of these 75 (22.3%) were healthy and six (1.78%) had WS. Of the 75 healthy children 40 (53.3%) were girls, while of the six children with WS, three (50%) were girls. There was a significant difference in SIR between WS and cases with pure SNHL (2.67 ± 1.03 vs. 3.79 ± 1.11, p = 021) however, the difference was not significant in CAP (4 ± 1.26 vs. 5.13 ± 1.13, p = 0.082). Prevalence of WS was 1.78% at Baqiyatallah Cochlear Implant Center. One year after implantation there was no significant difference in auditory outcome; however, the difference in speech outcome was significant between WS and cases with pure SNHL.

  17. Multi-Modal Ultra-Widefield Imaging Features in Waardenburg Syndrome

    Science.gov (United States)

    Choudhry, Netan; Rao, Rajesh C.

    2015-01-01

    Background Waardenburg syndrome is characterized by a group of features including; telecanthus, a broad nasal root, synophrys of the eyebrows, piedbaldism, heterochromia irides, and deaf-mutism. Hypopigmentation of the choroid is a unique feature of this condition examined with multi-modal Ultra-Widefield Imaging in this report. Material/Methods Report of a single case. Results Bilateral symmetric choroidal hypopigmentation was observed with hypoautofluorescence in the region of hypopigmentation. Fluorescein angiography revealed a normal vasculature, however a thickened choroid was seen on Enhanced-Depth Imaging Spectral-Domain OCT (EDI SD-OCT). Conclusion(s) Choroidal hypopigmentation is a unique feature of Waardenburg syndrome, which can be visualized with ultra-widefield fundus autofluorescence. The choroid may also be thickened in this condition and its thickness measured with EDI SD-OCT. PMID:26114849

  18. Waardenburg syndrome: A rare genetic disorder, a report of two cases

    Directory of Open Access Journals (Sweden)

    Sudesh Kumar

    2012-01-01

    Full Text Available Waardenburg syndrome (WS is a rare genetic disorder. Patients have heterochromia or eyes with iris of different color, increased inter-canthal distance, distopia canthorum, pigmentation anomalies, and varying degree of deafness. It usually follows autosomal dominant pattern. In this report, two cases have been discussed but no familial history of WS has been found. Counseling of the patient is necessary and cases of irreversible deafness have been treated.

  19. Waardenburg syndrome: A rare genetic disorder, a report of two cases.

    Science.gov (United States)

    Kumar, Sudesh; Rao, Kiran

    2012-05-01

    Waardenburg syndrome (WS) is a rare genetic disorder. Patients have heterochromia or eyes with iris of different color, increased inter-canthal distance, distopia canthorum, pigmentation anomalies, and varying degree of deafness. It usually follows autosomal dominant pattern. In this report, two cases have been discussed but no familial history of WS has been found. Counseling of the patient is necessary and cases of irreversible deafness have been treated.

  20. Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Reynolds, J.E.; Meyer, J.M.; Stevens, C.A. [Virginia Commonwealth Univ., Richmond, VA (United States)] [and others

    1996-02-01

    We used segregation analysis to investigate the genetic basis of variation in dystopia canthorum, one of the key diagnostic features of Waardenburg syndrome type 1 (WS1). We sought to determine whether the W-index, a quantitative measure of this craniofacial feature, is influenced primarily either by allelic variation in the PAX3 disease gene or other major loci, by polygenic background effects, or by all of these potential sources of genetic variation. We studied both WS1-affected individuals and their WS1-unaffected relatives. After adjustment of the W-index for WS1 disease status, segregation analyses by the regression approach indicated major-locus control of this variation, although residual parent-offspring and sib-sib correlations are consistent with additional (possibly polygenic) effects. Separate analyses of WS1-affected and WS1-unaffected individuals suggest that epistatic interactions between disease alleles at the PAX3 WS1 locus and a second major locus influence variation in dystopia canthorum. Our approach should be applicable for assessing the genetic architecture of variation associated with other genetic diseases. 23 refs., 1 fig., 6 tabs.

  1. Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome.

    Science.gov (United States)

    Reynolds, J E; Marazita, M L; Meyer, J M; Stevens, C A; Eaves, L J; Arnos, K S; Ploughman, L M; MacLean, C; Nance, W E; Diehl, S R

    1996-02-01

    We used segregation analysis to investigate the genetic basis of variation in dystopia canthorum, one of the key diagnostic features of Waardenburg syndrome type 1 (WS1). We sought to determine whether the W-index, a quantitative measure of this craniofacial feature, is influenced primarily either by allelic variation in the PAX3 disease gene or other major loci, by polygenic background effects, or by all of these potential sources of genetic variation. We studied both WS1-affected individuals and their WS1-unaffected relatives. After adjustment of the W-index for WS1 disease status, segregation analyses by the regression approach indicated major-locus control of this variation, although residual parent-offspring and sib-sib correlations are consistent with additional (possibly polygenic) effects. Separate analyses of WS1-affected and WS1-unaffected individuals suggest that epistatic interactions between disease alleles at the PAX3 WS1 locus and a second major locus influence variation in dystopia canthorum. Our approach should be applicable for assessing the genetic architecture of variation associated with other genetic diseases.

  2. Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review.

    Science.gov (United States)

    da-Silva, E O

    1991-07-01

    Two large kindreds with Waardenburg I syndrome are described. The total number of affected individuals is 73. The major manifestations are telecanthus (the only constant anomaly in all cases), prominent nasal root, round or square tip of nose, hypoplastic alae, smooth philtrum, bushy eyebrows with synophrys, sensorineural deafness, heterochromia or hypoisochromia iridis, hypopigmented ocular fundus, white forelock, premature greying, and hypopigmented skin lesions. These and other aspects of the syndrome, associated findings, frequency, genetic heterogeneity, pathogenesis, animal models, and gene linkage and mapping are reviewed briefly.

  3. Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

    NARCIS (Netherlands)

    J. Rainger; E. van Beusekom; J.K. Ramsay; L. McKie; L. Al-Gazali; R. Pallotta; A. Saponari; P. Branney; M. Fisher; H. Morrison; L. Bicknell; P. Gautier; P. Perry; K. Sokhi; D. Sexton; T.M. Bardakjian; A.S. Schneider; N. Elcioglu; F. Ozkinay; R. Koenig; A. Megarbane; C.N. Semerci; A. Khan; S. Zafar; R. Hennekam; S.B. Sousa; L. Ramos; L. Garavelli; A.S. Furga; A. Wischmeijer; I.J. Jackson; G. Gillessen-Kaesbach; H.G. Brunner; D Wieczorek; H. van Bokhoven; D.R. Fitzpatrick

    2011-01-01

    Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identif

  4. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

    NARCIS (Netherlands)

    Rainger, J.; Beusekom, E. van; Ramsay, J.K.; McKie, L.; Al-Gazali, L.; Pallotta, R.; Saponari, A.; Branney, P.; Fisher, M.; Morrison, H.; Bicknell, L.; Gautier, P.; Perry, P.; Sokhi, K.; Sexton, D.; Bardakjian, T.M.; Schneider, A.S.; Elcioglu, N.; Ozkinay, F.; Koenig, R.; Megarbane, A.; Semerci, C.N.; Khan, A.; Zafar, S.; Hennekam, R.; Sousa, S.B.; Ramos, L.; Garavelli, L.; Furga, A.S.; Wischmeijer, A.; Jackson, I.J.; Gillessen-Kaesbach, G.; Brunner, H.G.; Wieczorek, D.; Bokhoven, J.H.L.M. van; FitzPatrick, D.R.

    2011-01-01

    Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identif

  5. Novel SOX10 mutation in a girl with type IV Waardenburg syndrome%Waardenburg综合征Ⅳ型患儿SOX10基因新突变研究

    Institute of Scientific and Technical Information of China (English)

    蔚开慧; 姜茜; 张震; 李颀; 肖萍; 苏琳; 邹继珍; 李龙; 潘尚领

    2016-01-01

    Objective To improve the disease causative gene mutation spectrum and provide new information for ge-netic counseling in Waardenburg syndrome type IV (WS4), we performed molecular genetic study in an isolated patient af-fected by WS4. Literature was reviewed for reported nonsense mutations in SOX10. Methods Detailed histories were col-lected through questionnaires and physical examination. Blood samples of the patient and her parents were collected after obtaining informed consents. Suspected mutations were amplified and verified by Sanger sequencing after the next genera-tion sequencing of 172 related genes. The raw data were analyzed using molecular biological websites and the GeneTool software. Results A new de novo heterozygous mutation (c.838G>T, p.E280X) in the fourth exon of SOX10 was found in the patient. Both parents were demonstrated to be wild-type and symptom free. Conclusions The novel mutation found in our study not only enriches the mutation spectrum but also is helpful for recurrent risk evaluation and genetic counseling for this family.%目的:通过分析研究一例Waardenburg综合征Ⅳ型(WS4)散发病例患儿的分子遗传学病因,丰富该致病基因突变谱,为WS4遗传咨询提供新的证据,并对该综合征相关的SOX10基因所有无义突变进行文献回顾和总结。方法收集一个WS4患儿的详细临床资料,签署知情同意书后获取血样,对包括SOX10、EDNRB、EDN3在内的172个先天性巨结肠及综合征相关基因进行二代测序,并用聚合酶链反应针对可疑致病突变进行扩增及Sanger测序验证,应用GeneTool软件及生物信息学网站的信息分析数据。结果发现患儿SOX10基因第4外显子存在一杂合无义突变(c.838G>T, p.E280X),父母均表现正常且未发现有该突变。结论发现一新的SOX10基因致病突变,丰富了致WS4的SOX10基因突变谱,并为父母提供再生育患儿的风险评估及必要的产前诊断咨询。

  6. Waardenburg's syndrome

    Directory of Open Access Journals (Sweden)

    Kharya A

    2003-01-01

    Full Text Available A 3-year-old girl presented with sensoryneural deafness and depigmented macular lesions in characteristic pattern since birth. She also had heterochromia of iris and lateral displacement of inner canthi which pointed towards this rare entity.

  7. Waardenburg's syndrome

    Directory of Open Access Journals (Sweden)

    Kharya A

    2003-03-01

    Full Text Available A 3-year-old girl presented with sensoryneural deafness and depigmented macular lesions in characteristic pattern since birth. She also had heterochromia of iris and lateral displacement of inner canthi which pointed towards this rare entity.

  8. Waardenburg syndrome

    Science.gov (United States)

    ... the symptoms in the parent can be quite different from those in the child. ... of large bowel to be removed Hearing loss Self-esteem problems, or ... Slight increased risk for muscle tumor called rhabdomyosarcoma

  9. Microphthalmia-associated transcription factor (MITF – from Waardenburg syndrome genetics to melanoma therapy

    Directory of Open Access Journals (Sweden)

    Ivan Šamija

    2010-11-01

    Full Text Available Microphthalmia-associated transcription factor (MITF was first discovered as protein coded by gene whose mutations are associated with Waardenburg syndrome. Later, MITF was shown to be key transcription factor regulating melanogenesis. Further studies have shown that in addition to regulating melanogenesis MITF also plays central role in regulation of melanocyte development and survival. MITF gene is amplified in a proportion of melanomas and ectopic MITF expression can transform melanocytes so MITF can function as melanoma “lineage survival” oncogene. Different studies have further revealed MITF’s important but complex role in tumorigenesis and progression of melanoma. As expected from its important role in melanocytes and melanoma MITF is intricately regulated on all the levels from transcription to post-translational modifications. Although complex mechanisms of MITF functioning are still being revealed, MITF already has a valuable role in managing melanoma patients. Immunohistochemical analysis of MITF has shown both diagnostic and prognostic value in patients with melanoma. MITF is also a valuable specific marker for detection of circulating melanoma cells by reverse-transcription – polymerase chain reaction. MITF has recently been investigated as a potential target for melanoma therapy.

  10. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia syndrome in humans and mice.

    Directory of Open Access Journals (Sweden)

    Joe Rainger

    2011-07-01

    Full Text Available Ophthalmo-acromelic syndrome (OAS, also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identified homozygous mutations in SMOC1 (SPARC-related modular calcium binding 1 in eight unrelated families. Four of these mutations are nonsense, two frame-shift, and two missense. The missense mutations are both in the second Thyroglobulin Type-1 (Tg1 domain of the protein. The orthologous gene in the mouse, Smoc1, shows site- and stage-specific expression during eye, limb, craniofacial, and somite development. We also report a targeted pre-conditional gene-trap mutation of Smoc1 (Smoc1(tm1a that reduces mRNA to ∼10% of wild-type levels. This gene-trap results in highly penetrant hindlimb post-axial oligosyndactyly in homozygous mutant animals (Smoc1(tm1a/tm1a. Eye malformations, most commonly coloboma, and cleft palate occur in a significant proportion of Smoc1(tm1a/tm1a embryos and pups. Thus partial loss of Smoc-1 results in a convincing phenocopy of the human disease. SMOC-1 is one of the two mammalian paralogs of Drosophila Pentagone, an inhibitor of decapentaplegic. The orthologous gene in Xenopus laevis, Smoc-1, also functions as a Bone Morphogenic Protein (BMP antagonist in early embryogenesis. Loss of BMP antagonism during mammalian development provides a plausible explanation for both the limb and eye phenotype in humans and mice.

  11. Genetic analysis of PAX3 gene in a Waardenburg syndrome family%一个Waardenburg综合征患儿家系的PAX3基因突变分析

    Institute of Scientific and Technical Information of China (English)

    曲春燕; 赵敏; 李俊; 魏魏; 李晓泽; 梁凤和

    2015-01-01

    Objective To report clinical features and genetic mutations in a family with Waardenburg syndrome type I. Methods Clinical data of a family with Waardenburg syndrome were collected and the open reading frame of gene PAX3 was sequenced in five family members. Results The proband newborn and his mother showed typical clinical features of Waardenburg syndrome type I: bilateral congenital sensorineural deafness, heterochromia iridis, dystopia canthorum and broadening of nasal root. Both of them were found to carry heterozygous mutation ivs5-1G>A in the PAX3 gene, while the father and maternal grandparents were tested negative. Conclusion A novel PAX3 gene mutation has been found in a family with Waardenburg syndrome. Genetic diagnosis is an important means for diagnosis of subtypes of Waardenburg syndrome.%目的:分析一个Waardenburg综合征患儿家系成员的临床表现和基因突变。方法收集1个Waardenburg综合征患者家系的临床资料,并对此家系5位成员的PAX3基因的蛋白编码序列进行测序分析。结果患儿及其母亲具有典型的Waardenburg综合征I型的听力障碍、内眦异位以及色素异常的临床特征,均携带PAX3基因ivs5-1G>A杂合致病突变;患儿父亲、外祖父母PAX3基因序列测序分析均未见异常。结论在一个Waardenburg综合征患儿家系发现未见报道的PAX3基因新发突变,基因诊断是确诊Waardenburg综合征型别的重要手段。

  12. Experimental Studies on Pathogenesis of Waardenburg Syndrome Type Ⅱ Resulting from Microphthalmia-Associated Transcription Factor Gene Mutations%MITF基因突变致Ⅱ型Waardenburg综合征发病的实验研究

    Institute of Scientific and Technical Information of China (English)

    张华; 陈红胜; 李家大; 罗洪金; 梅凌云; 贺楚峰; 冯永

    2014-01-01

    目的 通过体外实验研究小眼球畸形相关转录因子(microphthalmia-associated transcription factor,MITF)突变基因功能,初步探讨其致Ⅱ型Waardenburg综合征(Waardenburg syndrome,WS)发病的分子机制.方法 以野生型MITF基因真核细胞表达质粒pCMV-MITF-Flag为模板分别构建二个致Ⅱ型WS的MITF基因新发突变R217I和T192fsX18的真核细胞表达质粒.野生MITF和突变R217I和T192fsX18表达质粒瞬时转染黑色素瘤细胞或小鼠胚胎成纤维细胞(NIH3T3细胞),应用Western blot和细胞免疫荧光分别检测其表达和亚细胞定位;应用荧光素酶活性检测系统通过对酪氨酸酶(tyrosinase,TYR)报告基因活性检测观察野生/突变MITF蛋白对其靶基因TYR转录活性的调控作用,以及二个突变蛋白对野生MITF蛋白功能的影响;应用生物素标记的含E box基序(CATGTG)的DNA寡核苷酸链探针分别沉淀MITF、R217I及T192fsX18蛋白,检测野生/突变MITF蛋白与靶基因TYR启动子的结合力.结果 成功构建了突变型R217I、T192fsX18真核细胞重组表达质粒pCMV-R217I-Flag和pCMV-T192fsX18-Flag,MITF蛋白与R217I、T192fsX18突变蛋白在黑色素瘤细胞中正确表达,进一步验证了重组质粒构建的正确性.突变R217I蛋白与野生MITF蛋白一样仅在细胞核中分布,而T192fsX18蛋白则出现异常亚细胞定位,仅在细胞质中分布.尽管R217I蛋白仍残余部分功能可增加TYR启动子转录活性,但与野生MITF蛋白相比,二者差异有显著统计学意义(P<0.01),而T192fsX18蛋白则完全失去调控TYR启动子转录活性作用(P<0.01);二者均未对野生MITF蛋白功能产生显性负效应(P>0.05).突变R217I蛋白与野生MITF蛋白均可与TYR启动子特异DNA序列E-box结合,而突变T192fs X18蛋白则不能与之结合.结论 R217I和T192fsX18突变蛋白通过影响靶基因TYR转录活性,使其表达下调、黑色素合成减少,以单倍体剂量不足效应致Ⅱ型WS.

  13. Evidence for modifier genes that enhance the effect of the Pax-3 mutation, splotch-delayed (Sp{sup d}), on facial morphology: A model for studying the causes of variation of Waardenburg syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Harrison, R.W.; Morell, R.; Friedman, T.B. [Michigan State Univ., East Lansing, MI (United States)] [and others

    1994-09-01

    Waardenburg syndrome type I (WS1) is caused by autosomal dominant mutations of the gene coding for the PAX3 transcription factor. These mutations have variable penetrance and expressivity within and between families where they cause hypopigmentation, deafness and facially dysmorphic features. It has been suspected that changes of penetrance and expressivity in WS1 mutations are caused by familial variation in other loci which interact with or modify the expression of the PAX3 locus. Splotch mutations (Sp, Sp{sup d}, etc.) are the mouse homologs of WS1 mutations. Mutations in Pax-3 were first used to predict the map position and function of WS1 mutations. We now present morphometric evidence for alleles of modifier genes, originating from Mus spretus and segregating in an F{sub 1} backcross with Mus musculus, that modify the effects of Sp{sup d} on the structure of mouse facial bones. Variation caused by these mouse genes are precisely homologous to the familial variation we see in dystopia canthorum, the principal diagnostic feature of Waardenburg syndrome type I. The mouse modifier genes of Pax-3 identified by this analysis are now being mapped as a first step towards positional cloning human PAX3 modifier genes.

  14. Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10.

    Science.gov (United States)

    Jelena, Brezo; Christina, Lam; Eric, Vilain; Fabiola, Quintero-Rivera

    2014-06-01

    Waardenburg syndrome (WS) is a neurocristopathy characterized by pigmentation abnormalities of the skin, hair, and iris, as well as sensorineural hearing loss. Contiguous gene deletions encompassing SOX10 are rare, which limits conclusions about genotype-phenotype correlation regarding patient prognosis and management. This study adds to the existing body of knowledge by characterizing a 2.4 Mb deletion [arr[hg19] 22q12.3-q13.1 (36467502-38878207)x1] encompassing SOX10 and 53 additional RefSeq genes in a 15-year-old female with atypical WS. The patient presented with developmental delay, profound bilateral sensorineural hearing loss, heterochromia iridis, hypotonia, and bilateral finger contractures. Published genomic and phenotypic profiles of patients with SOX10-encompassing deletions point toward several plausible candidate gene that could account for the considerable clinical heterogeneity. These studies suggest the existence of modifiers among the co-deleted, dosage-sensitive genes (e.g., MYH9) and among genes whose effect may depend on the unmasking of recessive mutations (e.g., PLA2G6). Finally, we highlight evidence illustrating extensive interconnectivity of SOX10-hypothesizing that haploinsufficiency of SOX10 may "unmask" subtler effects on expression or epistasis associated with variants in SOX10 targets (e.g., DHH), in its partners (e.g., PAX3, EGR2), and in genes with functional overlap (e.g., SOX8, SOX9).

  15. Genetics Home Reference: otopalatodigital syndrome type 1

    Science.gov (United States)

    ... Management Genetic Testing (1 link) Genetic Testing Registry: Oto-palato-digital syndrome, type I Other Diagnosis and ... syndrome faciopalatoosseous syndrome FPO OPD syndrome, type 1 oto-palato-digital syndrome, type I Taybi syndrome Related ...

  16. Genetics Home Reference: otopalatodigital syndrome type 2

    Science.gov (United States)

    ... Management Genetic Testing (1 link) Genetic Testing Registry: Oto-palato-digital syndrome, type II Other Diagnosis and ... syndrome faciopalatoosseous syndrome FPO OPD syndrome, type 2 oto-palato-digital syndrome, type II Taybi syndrome Related ...

  17. Griscelli syndrome type-3

    Directory of Open Access Journals (Sweden)

    Bela J Shah

    2016-01-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive multisystem disorder of pigmentary dilution of skin, silver gray hair, variable immunodeficiency, neurological impairment, and abnormal accumulation of melanosomes in melanocytes. GS type 3 is characterized by hypomelanosis with no immunological and neurological manifestation. Prognosis is very good in type 3 GS and usually require no active intervention, as opposed to type 1 and 2 where early diagnosis and treatment plays a crucial role in patient's survival. The characteristic phenotypic appearance, especially the pigment dilution of the patient's hair, is emphasized here.

  18. SOX10 mutation is relevant to inner ear malformation in patients with Waardenburg syndrome%SOX10基因突变对Waardenburg综合征患者内耳发育的影响

    Institute of Scientific and Technical Information of China (English)

    徐广雨; 郝青青; 钟玲玲; 任巍; 闫艳; 刘日渊; 李佳楠; 郭维维; 赵辉

    2016-01-01

    目的 通过对SOX10基因突变Waardenburg综合征(Waardenburg syndrome,WS)患者的内耳影像学分析和分子遗传学分析,研究SOX10基因突变与WS患者发生内耳畸形的相关性.方法 收集2001-2015年解放军总医院耳鼻咽喉头颈外科收治的WS患者36例的临床资料.通过颞骨高分辨率CT、头颅MRI、内听道磁共振水成像等影像学检查,全面评估每位患者内耳发育情况.并对每位患者筛查WS常见致病基因SOX10、MITF、PAX3的突变情况.按SOX10基因是否突变分为2组,以Fisher精确检验法比较两组间内耳畸形发生率的差异.结果 36例WS患者中,共发现12例内耳畸形(33.3%),其中后半规管畸形发生率最高(12例),可合并前庭扩大及耳蜗畸形.36例患者中9例检出SOX10基因杂合突变,其中6例出现双侧内耳畸形.36例患者中27例无SOX10基因突变,其中6例出现双侧内耳畸形.Fisher精确检验法比较SOX10基因突变组与非SOX10基因突变组间内耳畸形发生率差异有统计学意义(P =0.036).结论 WS患者中如为SOX10基因突变,则出现内耳畸形的可能性较大,并且趋向于双侧耳蜗、前庭及半规管同时畸形.%Objective To determine the relevance between the SOX10 mutation and Waardenburg syndrome (WS) accompanied with inner ear abnormality by analyzing the inner ear imaging results and molecular and genetic results of the WS patients with the SOX10 mutation.Methods This study included 36 WS in patients during 2001 and 2015 in the department of otorhinolaryngology head and neck surgery,Chinese Peoples's Liberation Army General Hospital.The condition of the inner ear of each patient was assessed by analyzing HRCT scans of the temporal bone and MRI scans of the brain and internal auditory canal.Meanwhile,the possible pathogenic genes of WS,including SOX10,MITF,and PAX3,were also screened.Patients were divided into two groups according to SOX10 mutation.The Fisher accuracy test was used to determine

  19. Você conhece esta síndrome? Do you know this syndrome?

    Directory of Open Access Journals (Sweden)

    Erick Dancuart Omar

    2007-04-01

    Full Text Available Na síndrome de Waardenburg, genodermatose autossômica dominante, distúrbios da pigmentação (hipo ou acromia de pele e cabelos, heterocromia da íris podem se associar a surdez, distopia do canto interno do olho e, eventualmente, outras malformações de intestino e ósseas. Os autores relatam um caso clínico da síndrome de Waardenburg tipo 2B, apresentam a classificação da doença com os critérios diagnósticos e discutem o diagnóstico diferencial, que deve ser feito com vitiligo, piebaldismo e diferentes formas de albinismo.Waardenburg syndrome is a dominant autosomal condition in which alterations of pigmentation (hypochromia or achromia of the skin and hair, heterochromia of the iris can be associated with deafness, lateral displacement of the inner canthi of the eyes and occasionally bowel or skeletal malformations. We report a case of Waardenburg syndrome type 2B, present the classification of the disease with diagnostic criteria and discuss differential diagnosis, which should include vitiligo, piebaldism and different forms of albinism.

  20. Autoimmune Polyglandular Syndrome Type 1

    OpenAIRE

    Ponranjini, Vedeswari C.; Jayachandran, S; L Kayal; K Bakyalakshmi

    2012-01-01

    Autoimmune Polyglandular Syndrome (APS) Type 1 is a rare hereditary disorder that damages organs in the body. This disease entity is the result of a mutation in the AIRE gene. It is characterized by three classic clinical features - hypoparathyroidism, Addison′s disease, and chronic mucocutaneous candidiasis. For a patient to be diagnosed as having APS Type 1 syndrome at least two of these features needs to be present. The third entity may develop as the disease progresses. We report a case o...

  1. Types of Myelodysplastic Syndromes

    Science.gov (United States)

    ... blood and the bone marrow look under the microscope. One type is defined by a certain chromosome change in ... are low. In the bone marrow, those same types of cells look abnormal under the microscope (dysplasia). Ringed sideroblasts may or may not be ...

  2. Autoimmune Polyglandular Syndrome Type 1

    Directory of Open Access Journals (Sweden)

    Vedeswari C Ponranjini

    2012-01-01

    Full Text Available Autoimmune Polyglandular Syndrome (APS Type 1 is a rare hereditary disorder that damages organs in the body. This disease entity is the result of a mutation in the AIRE gene. It is characterized by three classic clinical features - hypoparathyroidism, Addison′s disease, and chronic mucocutaneous candidiasis. For a patient to be diagnosed as having APS Type 1 syndrome at least two of these features needs to be present. The third entity may develop as the disease progresses. We report a case of a 35-year-old female patient with a history of seizure from the age of 11 years, who was managed with anticonvulsant drugs. With worsening of the seizure episodes, patient was diagnosed to have hypoparathyroidism together with the manifestations of oral candidiasis, nails dystrophy, enamel hypoplasia, and hypogonadism. A diagnosis of APS-1 was considered. The facility for genetic analysis of the AIRE gene mutation was not accessible, as the test costs were prohibitive and not affordable for the patient. Patient management was directed to treating individual disease components. However, cerebral and dental changes were irreversible.

  3. ADPKD: Prototype of Cardiorenal Syndrome Type 4

    Directory of Open Access Journals (Sweden)

    Grazia Maria Virzì

    2011-01-01

    Full Text Available The cardiorenal syndrome type 4 (Chronic Renocardiac Syndrome is characterized by a condition of primary chronic kidney disease (CKD that leads to an impairment of the cardiac function, ventricular hypertrophy, diastolic dysfunction, and/or increased risk of adverse cardiovascular events. Clinically, it is very difficult to distinguish between CRS type 2 (Chronic Cardiorenal Syndrome and CRS type 4 (Chronic Renocardiac Syndrome because often it is not clear whether the primary cause of the syndrome depends on the heart or the kidney. Autosomal dominant polycystic kidney disease (ADPKD, a genetic disease that causes CKD, could be viewed as an ideal prototype of CRS type 4 because it is certain that the primary cause of cardiorenal syndrome is the kidney disease. In this paper, we will briefly review the epidemiology of ADPKD, conventional and novel biomarkers which may be useful in following the disease process, and prevention and treatment strategies.

  4. Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Koch, Bernadette; Egelhoff, John; Benton, Corning [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati (United States); Goold, Amy [Tripler Army Medical Center, Family Practice, Honolulu, HI (United States)

    2006-09-15

    We report a case of bilateral partial absence of the posterior semicircular canals (with normal lateral semicircular canals) imaged with CT in a patient with Alagille syndrome. Similar histologic findings have been reported in the pathology literature. This association has been previously reported only for Waardenburg syndrome in the imaging literature. We review the imaging findings and embryology of the semicircular canals, and suggest that this abnormality is specific to patients with Alagille or Waardenburg syndrome. (orig.)

  5. Genetics Home Reference: bare lymphocyte syndrome type I

    Science.gov (United States)

    ... Home Health Conditions bare lymphocyte syndrome type I bare lymphocyte syndrome type I Enable Javascript to view ... boxes. Download PDF Open All Close All Description Bare lymphocyte syndrome type I (BLS I) is an ...

  6. Genetics Home Reference: type A insulin resistance syndrome

    Science.gov (United States)

    ... disorders, which also include Donohue syndrome and Rabson-Mendenhall syndrome , are considered part of a spectrum. Type ... of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. Medicine (Baltimore). 2004 ...

  7. Ehlers-Danlos syndrome type IV

    Directory of Open Access Journals (Sweden)

    Germain Dominique P

    2007-07-01

    Full Text Available Abstract Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS, is an inherited connective tissue disorder defined by characteristic facial features (acrogeria in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. Dissections of the vertebral arteries and the carotids in their extra- and intra-cranial segments (carotid-cavernous fistulae are typical. There is a high risk of recurrent colonic perforations. Pregnancy increases the likelihood of a uterine or vascular rupture. EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene coding for type III procollagen. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COL3A1 gene. In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome. Prenatal diagnosis can be considered in families where the mutation is known. Choriocentesis or amniocentesis, however, may entail risk for the pregnant woman. In the absence of specific treatment for EDS type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures. Arterial, digestive or uterine complications require immediate hospitalisation, observation in an intensive care unit. Invasive imaging techniques are contraindicated. Conservative approach is usually recommended when caring for a vascular

  8. Síndrome de Waardenburg tipo I: relato de caso

    Directory of Open Access Journals (Sweden)

    Patricia Capua Vieira da Silva

    2011-06-01

    Full Text Available A síndrome de Waardenburg tipo I é uma desordem auditivo-pigmentária que inclui, entre outros, perda auditiva neurossensorial congênita não progressiva, telecanto, distúrbios pigmentares de íris, cabelo e pele. Indivíduos afetados podem ter maior risco de: defeitos no tubo neural, fendas labial e palatina, anormalidades nos membros e doença de Hirschsprung. O diagnóstico é clínico, sendo necessários dois critérios maiores ou um maior e dois menores. PAX3 é o único gene conhecido associado à síndrome, sendo, entretanto, mais usado no aconselhamento genético. Quanto ao diagnóstico diferencial, podemos citar: outras causas de perda auditiva neurossensorial congênita não progressiva, outros tipo de síndrome de Waardenburg, piebaldismo, albinismo, vitiligo e síndrome de Teitz. Neste trabalho, apresenta-se um paciente masculino de 11 anos com diagnóstico de síndrome de Waardenburg tipo I. Ressalta-se a importância do oftalmologista no auxílio do diagnóstico deste raro quadro sistêmico, uma vez que inclui algumas alterações oftalmológicas. O diagnóstico precoce da síndrome permite estimulação adequada para a perda auditiva, assim como medidas preventivas em caso de gestantes afetadas no aconselhamento genético.

  9. Fluconazole-Induced Type 1 Kounis Syndrome.

    Science.gov (United States)

    Singh Mahal, Hardeep

    2016-01-01

    The administration of fluconazole is commonly used in both inpatient and outpatient settings for the management of candidiasis infection. Although it is associated with a relatively safe side effect profile, some patients experience adverse effects associated with increased morbidity. We describe 1 such patient, a 42-year-old woman with a history of severe eczema who developed fluconazole-induced type 1 Kounis syndrome. Review of literature indicates that this as the first case reported of fluconazole-induced type 1 Kounis syndrome.

  10. Genetics Home Reference: Ohdo syndrome, Maat-Kievit-Brunner type

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    ... Maat-Kievit-Brunner type Ohdo syndrome, Maat-Kievit-Brunner type Enable Javascript to view the expand/collapse ... Open All Close All Description The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition ...

  11. Horner syndrome in neurofibromatosis type 1.

    Science.gov (United States)

    Lee, Jang Hyun; Jeen, Yoon-Mi; Kang, Sang Gue; Tark, Min Seung; Kim, Chul Han

    2015-01-01

    The authors report a rare case of Horner syndrome in a patient with neurofibromatosis type 1 (NF-1). A 31-year-old man visited the clinic with drooping left eyelid. The physical examination revealed ptosis of the left eyelid, miotic pupil, facial anhidrosis, and several skin masses on the chest. The radiological examination of the chest demonstrated a well-defined left posterior mediastinal mass close to the vertebral bodies of the upper thoracic spine at the level of T1-T5. The masses of mediastinum and skin were totally removed. They were diagnosed as neurofibromas. Neurofibromatosis type 1 was diagnosed. To the best of my knowledge, this is a rare case of a patient with NF-1 who presented with Horner syndrome. Clinicians should be vigilant on the possibility of Horner syndrome in patients with NF-1.

  12. Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13.

    Science.gov (United States)

    Shanske, A; Ferreira, J C; Leonard, J C; Fuller, P; Marion, R W

    2001-08-15

    Hirschsprung disease is a developmental disorder resulting from the arrest of the craniocaudal migration of enteric neurons from the neural crest along gastrointestinal segments of variable length; see Behrman [Nelson textbook of pediatrics, 1992:954-956]. It is a heterogeneous disorder in which familial cases map to at least three loci whose function is necessary for normal neural crest-derived cell development. Homozygous mutations in the endothelin-B receptor gene (EDNRB) on 13q22 have been identified in humans and mice with Hirschsprung disease type 2 (HSCR2). The auditory pigmentary disorder, Waardenburg-Shah syndrome, comprises Waardenburg syndrome and Hirschsprung disease and has also been mapped to the EDNRB locus. Hirschsprung disease, malrotation, isochromia, a profound sensorineural hearing loss, and several other anomalies were found in an infant with an interstitial deletion of 13q, suggesting the existence of a contiguous gene syndrome involving developmental genes necessary for the normal growth of the neural crest derivatives of the eye, inner ear, and colon. We report on an additional patient with a deletion in 13q and Hirschsprung disease. Congenital anomalies associated with deletions of the distal long arm of chromosome 13 are sufficiently consistent to suggest a clinical syndrome.

  13. [Type 1 diabetes and autoimmune polyendocrine syndromes].

    Science.gov (United States)

    Queiroz, Márcia S

    2008-03-01

    Type 1 diabetes (T1D) is associated with autoimmune thyroid disease (AIT), celiac disease (CD), Addison's disease (AD), and other autoimmune diseases. These diseases can occur simultaneously in defined syndromes with distinct pathophysiology and characteristics: autoimmune polyendocrine syndromes (APSs) and the immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX). APSs were initially defined as a multiple endocrine gland insufficiency associated to an autoimmune disease in a patient. APS-1 is characterized by the evidence of chronic candidiasis, chronic hypoparathyroidism, AD and T1D could be present as part of this syndrome. The combination of autoimmune adrenal insufficiency with AIT and/or type 1 autoimmune diabetes mellitus defines APS-2. AIT associated to other autoimmune diseases (excluding AD and/or hypoparathyroidism) are the main characteristics of APS-3. Different clinical combinations of autoimmune diseases which were not included in the previous groups are the characteristics of APS-4. IPEX is a recessive disorder characterized by the neonatal onset of T1D, infections, enteropathy, thrombocytopenia and anemia, as well as endocrinopathy, eczema and cachexia. These disorders are not common, but their consequences can be life threatening when the diagnosis is overlooked, and the treatment is the same prescribed for isolated disease presentation.

  14. Jadassohn Lewandowsky syndrome: Type 1 pachyonychia congenita

    Directory of Open Access Journals (Sweden)

    Anup Kumar Tiwary

    2017-01-01

    Full Text Available Pachyonychia congenita (PC is a rare, usually autosomal dominant, genodermatosis characterized by tetrad of wedge shaped nail hypertrophy, focal palmoplantar keratoderma, oral leucokeratosis and follicular hyperkeratosis due to mutation in either of the three keratin genes, KRT6, KRT16 and KRT17. Classically, it has been subdivided into 2 major types: PC-1 (Jadassohn Lewandowsky syndrome and PC-2 (Jackson-Lawler syndrome but, genotypically, now PC has been classified into 5 types depending upon the underlying keratin gene mutations: PC-K6a, PC-K6b, PC-K6c, PC-K16 and PC-K17. Since 1904 when Muller documented the first case of PC, around 700 cases have been reported till now. Hence, in the view of rarity of such crippling and debilitating dermatosis of congenital or early life onset, we herein report a clinically diagnosed case of Pachyonychia congenita- type 1(Jadassohn Lewandowsky syndrome in a 16 years old girl with affection of 2 other members of her family with the same disorder.

  15. Cardiorenal syndrome type 4: a review.

    Science.gov (United States)

    Clementi, Anna; Virzì, Grazia Maria; Goh, Ching Yan; Cruz, Dinna N; Granata, Antonio; Vescovo, Girogio; Ronco, Claudio

    2013-04-01

    There is a bidirectional and complex relationship between the heart and kidneys. This interaction is physical, chemical as well as biological and is also reflected in a strong connection between renal and cardiovascular diseases. Cardiorenal syndrome type 4 (CRS type 4) is characterized by primary chronic kidney disease (CKD) leading to an impairment of cardiac function, with ventricular hypertrophy, diastolic dysfunction, and/or increased risk of adverse cardiovascular events. The incidence of CKD is increasing, and CRS type 4 is becoming a major public health problem associated with a high morbidity and mortality. In this study, we briefly review the epidemiology and pathophysiology of CRS type 4, the role of biomarkers in its early identification, and its management.

  16. Neurofibromatosis type 1 with overlap Turner syndrome and Klinefelter syndrome.

    Science.gov (United States)

    Hatipoglu, Nihal; Kurtoglu, Selim; Kendirci, Mustafa; Keskin, Mehmet; Per, Hüseyin

    2010-02-01

    Turner's syndrome is a sex chromosome disorder. Klinefelter's syndrome is one of the most severe genetic diseases. Neurofibromatosis is an autosomal dominant disorder characterized by cafe-au-lait spots and fibromatous tumors of the skin. In this article, we report the overlap of neurofibromatosis-1 with Turner and Klinefelter syndromes. Thus, these disorders might overlap within the same patient. Due to these cases, we suggest that each patient with Turner-like symptoms or Klinefelter's-like syndrome, be carefully examined for café au lait macules before the initiation of hormone replacement treatment.

  17. Histopathological types in adult nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Md. Ghulam Yusuf

    2016-01-01

    Full Text Available In Bangladesh, there are very few studies about biopsy proven adult Nephrotic syndrome (NS with histological types and their clinical findings. To determine the histological types of glomerulonephritis (GN in adult NS and correlate them with the clinical presentations and biochemical parameters, we studied 100 biopsies in 87 patients who underwent ultrasonography- guided renal biopsy in Rangpur Medical College and Hospital from July 2010 to June 2012. The mean age of the patients was 32.8 ± 13.2 years; male was preponderance (72.4% and most of the patients (67.8% came from rural areas. Membranoproliferative GN (MPGN was the most common underlying cause that was found in 32 (36.8% patients followed by mesangial prolife- rative GN in 27 (31% patients, membranous GN in 16 (18.4% cases, minimal change disease in four (4.6% patients, diffuse proliferative GN in four (4.6% patients, focal segmental GN, and focal proliferative GN in two (2.4% patients each. High proteinuria level was found in minimal change disease, which was 7.59 ± 0.24 g/24 h (mean ± standard deviation. The most common symptoms were oliguria (92% and edema (86.2% followed by hematuria (dark urine (72.4% and hypertension (35.6%. MPGN was the most common histological type of adult NS in Rangpur.

  18. Autoimmune Polyglandular Syndrome Type 3 with Anorexia

    Directory of Open Access Journals (Sweden)

    Toshio Kahara

    2012-01-01

    Full Text Available A 71-year-old man with diabetes mellitus visited our hospital with complaints of anorexia and weight loss (12 kg/3 months. He had megaloblastic anemia, cobalamin level was low, and autoantibody to intrinsic factor was positive. He was treated with intramuscular cyanocobalamin, and he was able to consume meals. GAD autoantibody and ICA were positive, and he was diagnosed with slowly progressive type 1 diabetes mellitus (SPIDDM. Thyroid autoantibodies were positive. According to these findings, he was diagnosed with autoimmune polyglandular syndrome type 3 with SPIDDM, pernicious anemia, and Hashimoto's thyroiditis. Extended periods of cobalamin deficiency can cause serious complications such as ataxia and dementia, and these complications may not be reversible if replacement therapy with cobalamin is delayed. Although type 1 diabetes mellitus with coexisting pernicious anemia is very rare in Japan, physicians should consider the possibility of pernicious anemia when patients with diabetes mellitus have cryptogenic anorexia with the finding of significant macrocytosis (MCV > 100 fL.

  19. Relationship between Traditional Chinese Medicine Syndrome Type and Coronary Arteriography of Acute Coronary Syndrome

    Institute of Scientific and Technical Information of China (English)

    WANG Xian(王显); LIN Zhong-xiang(林钟香); GE Jun-bo(葛均波); ZHANG Zhen-xian(张振贤); SHEN Lin(沈琳)

    2003-01-01

    Objective: To explore the relationship of Traditional Chinese Medicine (TCM) Syndrome type and coronary arteriography (CAG) with respect to the number and degree of stenosed branches of coronary artery (CA) and ACC/AHA stage of acute coronary syndrome (ACS), to provide an objective evidence for TCM Syndrome typing on ACS.Methods: Ninety patients of ACS with their TCM Syndrome typing and CAG successfully conducted were enrolled in this study. They were classified into 3 Syndrome types, the blood stasis type (typeⅠ), the phlegm stagnant with blood stasis type (typeⅡ), and the endogenous collateral Wind type (typeⅢ). The scores of the number and severity of the stenosis branch of CA and ACC/AHA lesion stage in different Syndrome types were calculated respectively and analysed statistically by Ridit analysis.Results: The number of stenosed branches increased gradually with the Syndrome type changing from Ⅰ→Ⅱ→Ⅲ, compared the type Ⅲ with the other two types(P<0.01). The severity of stenosis in typeⅠ and Ⅱ were similar, but that of Type Ⅲ, much aggravated was significantly different from that in the former two (P<0.01). The ACC/AHA stage of coronary lesion tended to be more complex as the Syndrome type changed, patients of TCM typeⅠ and Ⅱ had mostly lesion of stage A or B1 , while lesion in majority of patients of type Ⅲ belonged to stage B2 or C, comparison between the three types showed significant difference (P<0.01). Conclusion: Most ACS patients of TCM Syndrome type Ⅲ with tri-branch, severe stenosed coronary arteries, belong to the complex ACC/AHA stage of B2 and C.

  20. Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type

    Science.gov (United States)

    Abreu, C.; Neves, M.; Oliveira, L.; Beirão, M.

    2017-01-01

    Lattice corneal dystrophy gelsolin type was first described in 1969 by Jouko Meretoja, a Finnish ophthalmologist. It is caused by an autosomal dominant mutation in gelsolin gene resulting in unstable protein fragments and amyloid deposition in various organs. The age of onset is usually after the third decade of life and typical diagnostic triad includes progressive bilateral facial paralysis, loose skin, and lattice corneal dystrophy. We report a case of a 53-year-old female patient referred to our Department of Ophthalmology by severe dry eye and incomplete eyelid closure. She had severe bilateral facial paresis, significant orbicularis, and perioral sagging as well as hypoesthesia of extremities and was diagnosed with Meretoja's syndrome at the age of 50, confirmed by the presence of gelsolin mutation. At our observation she had bilateral diminished tear film break-up time and Schirmer test, diffuse keratitis, corneal opacification, and neovascularization in the left eye. She was treated with preservative-free lubricants and topical cyclosporine, associated with nocturnal complete occlusion of both eyes, and underwent placement of lacrimal punctal plugs. Ocular symptoms are the first to appear and our role as ophthalmologists is essential for the diagnosis, treatment, and monitoring of ocular alterations in these patients. PMID:28250773

  1. Mirizzi Syndrome Type 2: A Case Report

    Directory of Open Access Journals (Sweden)

    Aydemir Ölmez

    2009-01-01

    Full Text Available Mirizzi syndrome is an unusual complication of gallstone disease and occurs in approximately 1% of these pa-tients. Some cases can not be identified preoperatively; despite modern imaging techniques. Today; treatment of Mirizzi syndrome is surgical. If Mirizzi syndrome is pre-sent; the risk of bile duct injury increases; particularly during laparoscopic surgery. Therefore; preoperative or intraoperative diagnosis is important. Here; we pre-sented a 29 year-old woman with obstructive jaundice who diagnosed as cholelithiasis and choledocholithiasis. Preoperative endoscopic retrograde cholangiography re-lieved the common bile duct stone but cound not diag-nosed the Mirizzi syndrome preoperatively. During lapa-roscopy; the diagnosis of Mirizzi syndrome was sus-pected early and the procedure was converted to open cholecystectomy and T-tube to common bile duct. There was no bile duct injury and postoperative course was uneventful.

  2. Cholesterol and Alzheimer Type Dementia among Adults with Down Syndrome

    Science.gov (United States)

    Buckley, Frank

    2008-01-01

    This article reports a summary of research by Warren Zigman and colleagues investigating the link between cholesterol levels and Alzheimer type dementia among adults with Down syndrome. Warren Zigman and colleagues followed 123 adults with Down syndrome between May 1998 and April 2006. The participants were aged between 41 and 78 years at the…

  3. Cholesterol and Alzheimer Type Dementia among Adults with Down Syndrome

    Science.gov (United States)

    Buckley, Frank

    2008-01-01

    This article reports a summary of research by Warren Zigman and colleagues investigating the link between cholesterol levels and Alzheimer type dementia among adults with Down syndrome. Warren Zigman and colleagues followed 123 adults with Down syndrome between May 1998 and April 2006. The participants were aged between 41 and 78 years at the…

  4. Preliminary research on syndrome types of Chinese medicine in children with primary nephrotic syndrome.

    Science.gov (United States)

    Sun, Wen; Yu, Jian; Zeng, Gu-Lan; Zhang, Bing-Feng

    2017-08-17

    To provide an objective reference for the syndrome types of Chinese medicine (CM) associated with pediatric primary nephrotic syndrome (PNS). A cross-sectional study was performed. Data on clinical symptoms, CM syndrome types, biochemical indices, and medications used were collected from 98 children with PNS. Then, the correlation between CM syndromes and biochemical indices, as well as medications used, was analyzed. The four most common symptoms in children with PNS were brown urine, red tongue, excessive sweating, and swelling of the face and limbs. The syndromes of qi deficiency of Fei (Lung) and Shen (Kidney) (FSQD) and yin deficiency of Gan (Liver) and Shen (GSYD) were the most common main CM syndrome types. FSQD syndrome score correlated significantly with the total cholesterol level, urine protein/creatinine ratio, and urine IgG and albumin levels (Ptypes were FSQD and GSYD syndromes. FSQD syndrome may be caused by some factors related to lipid levels, protein loss, and the use of immunosuppressive agents. The use of maintenance glucocorticoids may cause GSYD syndrome.

  5. Prevalence of the metabolic syndrome among patients with type 2 ...

    African Journals Online (AJOL)

    Prevalence of the metabolic syndrome among patients with type 2 diabetes mellitus ... Data obtained included anthropometric indices, blood pressure and fasting ... towards addressing these abnormalities through lifestyle modification, health ...

  6. Kyphoscolitic type of Ehlers-Danlos syndrome with prenatal stroke

    National Research Council Canada - National Science Library

    Coze, Stephanie; Tosello, Barthelemy

    2017-01-01

    .../10.1007/s13312-017-1054-x Byline: Barthelemy Tosello (1), Stephanie Coze (2) Keywords: Diagnosis; Neonatal hypotonia; PLOD1 gene; Scoliosis Abstract: Background The kyphoscoliotic type of Ehlers-Danlos syndrome...

  7. Screening for CDG type Ia in Joubert syndrome.

    NARCIS (Netherlands)

    Morava, E.; Cser, B.; Karteszi, J.; Huijben, K.M.; Szonyi, L.; Kosztolanyi, G.Y.; Wevers, R.A.

    2004-01-01

    BACKGROUND: The features of Joubert syndrome include hypotonia, ataxia, characteristic neuro-imaging findings, episodic hypoventilation, psychomotor retardation, and abnormal eye movements. Common symptoms in congenital disorders of glycosylation (CDG) type Ia are muscle hypotonia, cerebellar hypopl

  8. [Bartter syndrome and it's neonatal type].

    Science.gov (United States)

    Jankauskiene, Augustina; Jakutovic, Marija

    2003-01-01

    For the first time neonatal variant of Bartter syndrome to 14.5-year old girl is presented in Lithuania. It is a rare genetical disease with autosomal recessive inheritance. The patient was born prematurely, had polyhydramnion, polyuria and polydypsia, a craving for salt, specific outlook and was mentally retarded, had muscle weakness and nephrocalcinosis. Hypokalemia, hyperreninemia and metabolic alkalosis were found. Urine analysis revealed impaired renal concentration capacity, hypercalciuria and hypernatriuria. She had the symptom of systemic disease - osteopenia. Literature review on Bartter's syndrome is done.

  9. Gait Strategy in Patients with Ehlers-Danlos Syndrome Hypermobility Type and Down Syndrome

    Science.gov (United States)

    Rigoldi, Chiara; Galli, Manuela; Cimolin, Veronica; Camerota, Filippo; Celletti, Claudia; Tenore, Nunzio; Albertini, Giorgio

    2012-01-01

    People suffering from Ehlers-Danlos syndrome (EDS) hypermobility type present a severe ligament laxity that results in difficulties in muscle force transmission. The same condition is present in people suffering from Down syndrome (DS) even if their clumsy movements are due to cerebral and cognitive impairments. The aim of this study was to…

  10. Sturge-Weber syndrome in association with Klippel-Trenaunay syndrome and phakomatosis pigmentovascularis type IIb

    Directory of Open Access Journals (Sweden)

    Rajesh Kumar Mandal

    2014-01-01

    Full Text Available Phakomatosis pigmentovascularis (PPV is a rare combination of pigmentary and vascular components with or without systemic involvement. We report here a rare association of Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and PPV type IIb in a 15-year-old boy who had right upper limb monoparesis along with a history of recurrent convulsions.

  11. [Types of dislipidemia in children with metabolic syndrome].

    Science.gov (United States)

    Hromnats'ka, N M

    2014-01-01

    To study dyslipidemia types in children with metabolic syndrome. From 1520 children of total population 155 children aged from 9 to 18 years were selected, who formed 2 groups: 1 group--85 children with metabolic syndrome, 2 group--54 children with normal body mass. Anthropometry, blood pressure measurement, estimation of total cholesterol, low density cholesterol, very low density cholesterol, high density cholesterol, tryglicerides in blood were done. The total cholesterol level was 1,1 times higher (p = 0.001), low density cholesterol 1,4 times higher (p = 0.001), very low density cholesterol 1,1 times higher (p= 0.015), tryglicerides 1,1 times higher (p = 0.020) in children with metabolic syndrome than in children of control group. In children with metabolic syndrome sensitively more often IIa, IV dislipidemia types and isolated hypercholesterolemia and less often IIb, III dislipidemia types and high density cholesterol isolated decrease were diagnosed. So children with metabolic syndrome were characterized by atherogenic types of dislipidemias which determine early atherosclerosis development. Children with metabolic syndrome must be examined on the lipid metabolism violation with the aim of its prevention and correction.

  12. Carotid type of Eagle′s syndrome

    OpenAIRE

    Krishnaprasad Kondajji Ramachandra; Shreehari Ambika Krishnan; Saravanan Sampoornam Pape Reddy

    2015-01-01

    Eyes don’t see what mind does not know. It is important for a clinician to refresh his knowledge frequently to recognize some of the conditions that one may come across rarely no matter how insignificant the condition may seem. Especially in a dental outpatient department setting, individuals may complain of varied symptoms which the clinician, often tends to correlate to one of the oral diseases. We present a case of Eagle's syndrome with vague clinical presentation which could have easily g...

  13. Kenny-Caffey syndrome type 1 in an Egyptian girl

    Directory of Open Access Journals (Sweden)

    Kotb Abbass Metwalley

    2012-01-01

    Full Text Available Kenny-Caffey syndrome type 1 (KCS1 (OMIM 244460 is a rare syndrome characterized by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age and normal intelligence. The primary outcome of KCS1 is short stature. We present here an Egyptian girl aged 32 months with typical feature of KCS1.

  14. The risk for type B aortic dissection in Marfan syndrome

    NARCIS (Netherlands)

    den Hartog, Alexander W.; Franken, Romy; Zwinderman, Aeilko H.; Timmermans, Janneke; Scholte, Arthur J.; van den Berg, Maarten P.; de Waard, Vivian; Pals, Gerard; Mulder, Barbara J. M.; Groenink, Maarten

    2015-01-01

    BACKGROUND: Aortic dissections involving the descending aorta are a major clinical problem in patients with Marfan syndrome. OBJECTIVES: The purpose of this study was to identify clinical parameters associated with type B aortic dissection and to develop a risk model to predict type B aortic dissect

  15. Carotid type of Eagle′s syndrome

    Directory of Open Access Journals (Sweden)

    Krishnaprasad Kondajji Ramachandra

    2015-01-01

    Full Text Available Eyes don′t see what mind does not know. It is important for a clinician to refresh his knowledge frequently to recognize some of the conditions that one may come across rarely no matter how insignificant the condition may seem. Especially in a dental outpatient department setting, individuals may complain of varied symptoms which the clinician, often tends to correlate to one of the oral diseases. We present a case of Eagle′s syndrome with vague clinical presentation which could have easily gone undiagnosed if not for the application of simple diagnostic procedures and aids like Orthopantamogram (OPG.

  16. [Coexistence of autoimmune polyglandular syndrome type 3 with diabetes insipidus].

    Science.gov (United States)

    Krysiak, Robert; Okopień, Bogusław

    2015-01-01

    Autoimmune polyglandular syndromes are conditions characterized by the combination of two or more organ-specific disorders. The underestimation oftheir real frequency probable results from physicians' inadequate knowledge of these clinical entities and sometimes their atypical clinical presentation. Because they comprise a wide spectrum of autoimmune disorders, autoimmune polyglandular syndromes are divided into four types, among which type-3 is the most common one. In this article, we report the case of a young female, initially diagnosed with diabetes mellitus who several years later developed full-blown autoimmune polyglandular syndrome type 3 consisting of autoimmune thyroid disorder and latent autoimmune diabetes in adults.The discussed case suggests that in selected patients diabetes insipidus may coexist with autoimmune endocrinopathies and nonendocrine autoimmunopathies, as well as that in some patients idiopathic diabetes insipidus may be secondary to lymphocytic infiltration and destruction of the hypothalamic supraoptic and paraventricular nuclei and/or the supraoptic-hypophyseal tract

  17. Type 2 leprosy reaction with Sweet's syndrome-like presentation*

    Science.gov (United States)

    Chiaratti, Francielle Chiavelli; Daxbacher, Egon Luiz Rodrigues; Neumann, Antonielle Borges Faria; Jeunon, Thiago

    2016-01-01

    Leprosy is a chronic disease characterized by manifestations in the peripheral nerves and skin. The course of the disease may be interrupted by acute phenomena called reactions. This article reports a peculiar case of type 2 leprosy reaction with Sweet's syndrome-like features as the first clinical manifestation of leprosy, resulting in a delay in the diagnosis due to unusual clinical presentation. The patient had clinical and histopathological features reminiscent of Sweet's syndrome associated with clusters of vacuolated histiocytes containing acid-fast bacilli isolated or forming globi. Herein, it is discussed how to recognize type 2 leprosy reaction with Sweet's syndrome features, the differential diagnosis with type 1 leprosy reaction and the treatment options. When this kind of reaction is the first clinical presentation of leprosy, the correct diagnosis might be not suspected clinically, and established only with histopathologic evaluation. PMID:27438203

  18. Perry Syndrome: A Distinctive Type of TDP-43 Proteinopathy.

    Science.gov (United States)

    Mishima, Takayasu; Koga, Shunsuke; Lin, Wen-Lang; Kasanuki, Koji; Castanedes-Casey, Monica; Wszolek, Zbigniew K; Oh, Shin J; Tsuboi, Yoshio; Dickson, Dennis W

    2017-08-01

    Perry syndrome is a rare atypical parkinsonism with depression, apathy, weight loss, and central hypoventilation caused by mutations in dynactin p150glued (DCTN1). A rare distal hereditary motor neuropathy, HMN7B, also has mutations in DCTN1. Perry syndrome has TAR DNA-binding protein of 43 kDa (TDP-43) inclusions as a defining feature. Other TDP-43 proteinopathies include amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with and without motor neuron disease (FTLD-MND). TDP-43 forms aggregates in neuronal cytoplasmic inclusions (NCIs), neuronal intranuclear inclusions, dystrophic neurites (DNs), as well as axonal spheroids, oligodendroglial cytoplasmic inclusions, and perivascular astrocytic inclusions (PVIs). We performed semiquantitative assessment of these lesions and presence of dynactin subunit p50 lesions in 3 cases of Perry syndrome and one of HMN7B. We compared them with 3 cases of FTLD-MND, 3 of ALS, and 3 of hippocampal sclerosis (HpScl). Perry syndrome had NCIs, DNs, and frequent PVIs and spheroids. Perry syndrome cases were similar, but different from ALS, FTLD-MND, and HpScl. TDP-43 pathology was not detected in HMN7B. Dynactin p50 inclusions were observed in both Perry syndrome and HMN7B, but not in the other conditions. These results suggest that Perry syndrome may be distinctive type of TDP-43 proteinopathy. © 2017 American Association of Neuropathologists, Inc. All rights reserved.

  19. A Rare Cause of Pheochromocytoma; Neurofibromatosis Type 1-Noonan Syndrome

    Directory of Open Access Journals (Sweden)

    Mazhar Müslüm Tuna

    2014-09-01

    Full Text Available Neurofibromatosis (NF Type 1 (NF-1 is an autosomal dominant disease with a prevalence of about 1/3000. NF-1 is a neurocutaneous syndrome characterized by cafe au lait macules, neurofibroma, optic glioma, lisch nodules, and symptoms involving other systems. Noonan syndrome (NS is a clinically heterogeneous disorder predominantly characterized by dysmorphic facial features, congenital heart disease, proportionate post-natal short stature, neck abnormalities, and chest deformities. NF-NS is a very rare overlapping syndrome sharing many features of both syndromes. Coexistence of pheochromocytoma, which can be life-threatening if not treated properly, is also a very rare complication of this disorder. Here, we report a patient who was admitted with a mass in the right upper quadrant and was diagnosed with pheochromocytoma and NFNS. (The Me­di­cal Bul­le­tin of Ha­se­ki 2014; 52: 227-31

  20. Mammary-type myofibroblastoma with the nephrotic syndrome.

    Science.gov (United States)

    Colbert, Gates B; Vankawala, Preksha; Kuperman, Michael B; Mennel, Robert G

    2016-07-01

    We describe a 23-year-old white man who presented with anasarca and a new periumbilical mass. He had preserved kidney function and laboratory findings consistent with nephrotic syndrome, including 9.7 g/day albuminuria. Serum serologies were positive for anti-SSa and anti-SSb and low complements but were negative for antinuclear antibody. Pathologic findings of the abdominal mass showed a mammary-type myofibroblastoma. A kidney biopsy revealed a diffuse proliferative and membranous immune-mediated glomerulonephritis with 10% interstitial fibrosis. This is a novel case of mammary-type myofibroblastoma associated with nephrotic syndrome mimicking a proliferative lupus pattern.

  1. Respiratory complications of Ehlers-Danlos syndrome type IV.

    Science.gov (United States)

    Dowton, S B; Pincott, S; Demmer, L

    1996-12-01

    Pulmonary complications are described in a case of Ehlers-Danlos syndrome type IV, established by studies of collagen biosynthesis. At age 20.5 years the patient, who had previously suffered a spontaneous colonic perforation, developed intermittent recurrent hemoptysis and had a spontaneous hemopneumothorax. At presentation, imaging studies revealed multiple scattered cavitary lesions in both lungs. On separate occasions large parenchymal cysts ensued and subsequently regressed. Reviews of other reported patients indicate that pulmonary complications do occur in patients with Ehlers-Danlos syndrome type IV but have not resulted directly in patient mortality.

  2. Autoimmune Polyglandular Syndrome Type 2: An Unusual Presentation

    Directory of Open Access Journals (Sweden)

    Hamdollah Karamifar

    2010-05-01

    Full Text Available "nAutoimmune polyglandular syndrome (APS type 2 is characterized by the presence of Addison's disease, in association with autoimmune thyroid disease and/or type 1 diabetes mellitus. APS type 2 occurs most often in middle aged females and is rare in children. Here an 11 year old boy is reported with Addison's disease who developed symptom's of diabetes mellitus, goiter, malabsorption, macrocytic anemia and keratitis. APS type 2 occurs most often in middle aged females and is quite rare in children but one should think to autoimmune poly glandular syndrome type II in patient at any age especially in patients with Addison's disease.

  3. Evidence based guidelines for complex regional pain syndrome type 1

    NARCIS (Netherlands)

    Perez, Roberto S.; Zollinger, Paul E.; Dijkstra, Pieter U.; Thomassen-Hilgersom, Ilona L.; Zuurmond, Wouter W.; Rosenbrand, Kitty C. J.; Geertzen, Jan H.

    2010-01-01

    Background: Treatment of complex regional pain syndrome type I (CRPS-I) is subject to discussion. The purpose of this study was to develop multidisciplinary guidelines for treatment of CRPS-I. Method: A multidisciplinary task force graded literature evaluating treatment effects for CRPS-I according

  4. Autoimmune polyendocrine syndrome type 1 and NALP5, parathyroid autoantigen

    NARCIS (Netherlands)

    Alimohammadi, Mohammad; Bjorklund, Peyman; Hallgren, Asa; Pontynen, Nora; Szinnai, Gabor; Shikama, Noriko; Keller, Marcel P.; Ekwall, Olov; Kinkel, Sarah A.; Husebye, Eystein S.; Gustafsson, Jan; Rorsman, Fredrik; Peltonen, Leena; Betterle, Corrado; Perheentupa, Jaakko; Akerstrom, Goran; Westin, Gunnar; Scott, Hamish S.; Hollaender, Georg A.; Kampe, Olle

    2008-01-01

    Background: Autoimmune polyendocrine syndrome type 1 (APS-1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. Though recent studies concerning AIRE deficiency have begun to elucidate the molecular pathogenesis of organ-specific autoimmunity in patients

  5. Oro-facial-digital syndrome Type 1: A case report

    Directory of Open Access Journals (Sweden)

    Kanika Singh Dhull

    2014-01-01

    Full Text Available Oro-Facial Digital Syndrome (OFDS is a generic term for group of apparently distinctive genetic diseases that affect the development of the oral cavity, facial features, and digits. One of these is OFDS type I (OFDS-I which has rarely been reported in Asian countries. This is the case report of a 13 year old patient with OFDS type I who reported to the Department of Pedodontics and Preventive Dentistry, with the complaint of discolored upper front teeth.

  6. Richner-Hanhart syndrome and tyrosinemia type II.

    Science.gov (United States)

    Hunziker, N

    1980-01-01

    A patient already published a case of Richner-Hanhart syndrome (RHS) (stabilized corneal lesions and hyperkeratotic lesions on the palms and soles) proved to be associated with tyrosinemia type II. 2 other cases (sister and brother) with only typical dermatologic features of RHS and tyrosinemia type II are described. The treatment with a low phenylalanine and tyrosine diet improves the cutaneous lesions in our 3 cases.

  7. A case of Klinefelter's syndrome with type 1 diabetes mellitus

    Institute of Scientific and Technical Information of China (English)

    CAI Xiao-pin; ZHAO Li; MAO Min; YANG Zhao-jun; XING Xiao-yan; LI Guang-wei

    2012-01-01

    Klinefelter's syndrome (KS) is the most common sex chromosome disease in men.Classical features of the syndrome include a eunuchoidal body habitus,small testes and hypergonadotrophic hypogonadism.There has been an increased risk of diabetes mellitus and autoimmune disease for KS patients.This paper reports a case of KS in association with type 1 diabetes mellitus.The patient was a 21-year-old man,who has been confirmed by absolute insulin deficiency and positive IA-2 autoantibody.The hyperinsulinemic euglycemic clamp test indicated his insulin sensitivity in normal range,and his blood glucose was controlled well by the insulin therapy.

  8. Mauriac syndrome: growth failure and type 1 diabetes mellitus.

    Science.gov (United States)

    Kim, Mimi S; Quintos, J B

    2008-08-01

    Growth failure in Type 1 Diabetes Mellitus (T1DM) can occur for several reasons. Mauriac syndrome is a rare cause of severe growth failure in T1DM. There may be different forms and etiologies involved in Mauriac syndrome. However, there are common features noted in these patients. We have compiled a review of cases reported in English in the last 30 years. With adequate insulin treatment there is reversal of growth failure and hepatomegaly if present. However, overly aggressive insulin delivery could result in rapid deterioration of diabetic retinopathy and nephropathy. Close monitoring of growth and pubertal maturation in children with T1DM is essential.

  9. Management of pregnancy in Crigler Najjar syndrome type 2.

    Science.gov (United States)

    Chaubal, Alisha Nitin; Patel, Ruchir; Choksi, Dhaval; Shah, Kaivan; Ingle, Meghraj; Sawant, Prabha

    2016-04-18

    Crigler Najjar syndrome is associated with indirect hyperbilirubinemia due to a deficiency of enzyme Uridine Di Phospho Glucoronosyl Transferase (UDPGT). Presented here is a case of a female in the first trimester of pregnancy, who was diagnosed to have type 2 Crigler Najjar syndrome. We also discuss the management of this rare disease especially in pregnancy. Unconjugated bilirubin can cross the placental barrier causing neurological damage in the newborn. Patient was carefully monitored during pregnancy and treatment with phenobarbitone in low doses was adjusted such that the serum bilirubin levels were below 10 mg/dL. Crigler Najjar syndrome being rare needs to be diagnosed early in pregnancy to avoid adverse fetal outcomes. Phenobarbitone being an inducer of enzyme UDPGT is used as the first line of treatment and is not teratogenic in the low doses used. Treatment protocol followed was on the basis of previous reported cases and successful perinatal outcome was achieved.

  10. Genetics of Multiple Endocrine Neoplasia Type 1/Multiple Endocrine Neoplasia Type 2 Syndromes.

    Science.gov (United States)

    Hyde, Samuel M; Cote, Gilbert J; Grubbs, Elizabeth G

    2017-06-01

    Multiple endocrine neoplasia syndromes types 1 and 2 represent well-characterized yet clinically heterogeneous hereditary conditions for which diagnostic and management recommendations exist; genetic testing for these inherited endocrinopathies is included in these guidelines and is an important part of identifying affected patients and their family members. Understanding of these mature syndromes is challenged as more individuals undergo genetic testing and genetic data are amassed, with the potential to create clinical conundrums that may have an impact on individualized approaches to management and counseling. Clinicians who diagnose and treat patients with MEN syndromes should be aware of these possibilities. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Clinical features of adult patients with Eisenmenger syndrome associated with different types of congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    陈果

    2013-01-01

    Objective To explore the clinical features and hemodynamics of adult patients with Eisenmenger syndrome in different types of congenital heart diseases (CHD) .Methods Patients with Eisenmenger syndrome with different types of CHD diagnosed by right heart

  12. Fulminant hepatic failure in autoimmune polyendocrine syndrome type-1.

    Science.gov (United States)

    Sinha, R; Chapman, A R; Reid, G T; Hayes, P C

    2015-01-01

    Fulminant hepatic failure is liver disease that causes encephalopathy within 8 weeks of onset of symptoms or within 2 weeks of onset of jaundice in a patient without prior evidence of liver disease. Autoimmune polyendocrine syndrome type-1 is an autoimmune autosomal-recessive condition causing parathyroid and adrenal insufficiency, alopecia, chronic mucocutaneous candidiasis, ectodermal dystrophy and, rarely, hepatitis. Although the liver can be affected as a consequence of the autoimmune process, the spectrum of disease activity is varied. Autoimmune hepatitis develops in 10-20% of patients and successful liver transplantation has been reported in pediatric patients who failed immunosuppressive treatment. We report fulminant hepatic failure in an adult patient with autoimmune polyendocrine syndrome type-1 who responded to medical treatment and did not require liver transplantation. We highlight the diagnostic scoring system for autoimmune hepatitis and the referral criteria for liver transplantation in fulminant hepatic failure.

  13. Oral–Facial–Digital Syndrome type VI with self mutilations

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2014-10-01

    Full Text Available We report the case of a 2.5 year old female, 2nd in order of birth of 1st cousin consanguineous marriage, with the typical features of Oral–Facial–Digital Syndrome type VI (OFDS VI including midline pseudo cleft upper lip, sublingual nodule, molar tooth sign by MRI brain, bilateral mesoaxial polydactyly (hexadactyly, and developmental delay. The patient had self mutilations which was not reported before in OFDS VI except once.

  14. Detection of candidal antigens in autoimmune polyglandular syndrome type I.

    OpenAIRE

    Peterson, P; Perheentupa, J; Krohn, K J

    1996-01-01

    Autoimmune polyglandular syndrome type I (APS I) is associated with chronic mucocutaneous candidiasis. To characterize the antibody responses in this subgroup of Candida albicans infections, we screened a candidal cDNA expression library with patient sera and found four cDNA clones encoding the immunopositive proteins enolase, heat shock protein 90, pyruvate kinase, and alcohol dehydrogenase. The reactivity to these antigens was studied further by immunoprecipitation assays with in vitro-tran...

  15. Transitional type of Castleman's disease manifested as the POEMS syndrome

    Directory of Open Access Journals (Sweden)

    Tomić Ilija

    2004-01-01

    Full Text Available Background. Castleman’s disease is an atypical lymphoproliferative disorder characterized by angiofollicular hyperplasia of lymph nodes. Histologically it can be classified into a hyaline-vascular type, plasma-cell type, and transitional (mixed-cell type, while clinically localized type has been classified as unicentric, or generalized (multicentric form of the disease. Case report. This paper presents a 21 years old male patient with multicentric Castleman’s disease, a transitional (mixed-cell type. The disease was manifested by fever, generalized enlargement of peripherial lymph nodes, breast glands enlargement, hyperemia of the face, and weakness of the lower extremities. We found mediastinal lymphadenopathy, pleural and pericardial effusions, sensorimotor peripherial neuropathy and polyclonal hypergammaglobulinemia. The simultaneous presence of these manifestations of the disease (sensomotor peripheral neuropathy, lymphadenopathy, effusions endocrinopathy, polyclonal gammaglobulinemia and skin changes is indentified as POEMS syndrome. The diagnosis of Castleman’s disease was based on the results of histopathologic analysis of mediastinal lymph node biopsies after thoracotomy. The patient was treated with corticosteroids (prednisone 80 mg daily for 2 weeks followed by 60 mg daily. A partial response was achieved after 4 months of treatment. Conclusion. A transitional type of multicentric Castleman’s disease may be present itself as POEMS syndrome. The effect of corticosteroid therapy in this form of the disease is unpredictable.

  16. Smith-Lemli-Opitz syndrome type II: report of a case with additional radiographic findings.

    Science.gov (United States)

    Herman, T E; Siegel, M J; Lee, B C; Dowton, S B

    1993-01-01

    A phenotypically female infant with 46-XY chromosomes was found to have Smith-Lemli-Opitz syndrome, type II a rare congenital malformation syndrome with many features of the more common classic Smith-Lemli-Opitz syndrome. The patient's skeletal survey revealed characteristic and previously undescribed skeletal anomalies which are reported. In addition a lipoma of the pituitary gland was found on magnetic resonance imaging. This lesion is particularly interesting given the hypothesized steroid abnormality in Smith-Lemli-Opitz, type II syndrome, the sexual ambiguity of males with this syndrome and the similarity of this syndrome to the Pallister-Hall syndrome which characteristically has a hamartoblastoma of the hypothalamus.

  17. Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type: a revision of the rehabilitative approach

    Directory of Open Access Journals (Sweden)

    Claudia Celletti

    2016-09-01

    Full Text Available Joint hypermobility syndrome (JHS and Ehlers-Danlos syndrome, hypermobility type (EDS-HT are two clinically overlapping heritable connective tissue disorders strongly associating with pain, fatigue and other secondary aspects. No specific treatment exist for this syndrome and rehabilitation play a role in the management of these patients. The aim of this paper is to evaluate what are the evidence in literature about rehabilitation. Research was done using database PUBMED and consist in a revision of the studies published in the last 15 years. All studies agree to the beneficial role of the rehabilitative treatment and physical therapy but it’s necessary to add more further studies to establish a high quality, evidence-based physical therapy for this specific population.

  18. Achalasia in a Patient with Polyglandular Autoimmune Syndrome Type II

    Directory of Open Access Journals (Sweden)

    Bashar S. Amr

    2015-05-01

    Full Text Available Achalasia is a rare disease characterized by aperistalsis of the esophageal body and failure of the lower esophageal sphincter to relax. The etiology of this disease remains unknown. Polyglandular autoimmune syndrome type II is a well-identified disease characterized by the occurrence of autoimmune Addison's disease in combination with autoimmune thyroid disease and/or type 1 diabetes mellitus. We report a case that suggests autoimmunity and immunogenicity as a probable contributing factor for association of these two rare disorders.

  19. Ectopic Cushing syndrome secondary to metastatic medullary thyroid cancer in a child with multiple endocrine neoplasia syndrome type 2B: clues to early diagnosis of the paraneoplastic syndromes.

    Science.gov (United States)

    Singer, Kanakadurga; Heiniger, Nicholas; Thomas, Inas; Worden, Francis P; Menon, Ram K; Chen, Ming

    2014-09-01

    We describe a 13-year-old male with multiple endocrine neoplasia syndrome type 2B with medullary thyroid carcinoma who was diagnosed with ectopic adrenocorticotropin-dependent Cushing syndrome. This report highlights the importance of monitoring for paraneoplastic syndrome in MEN and clues to the diagnosis of this complication provided by growth patterns.

  20. Successful Pregnancy Outcome In Maternal Crigler Najjar Syndrome Type II

    Directory of Open Access Journals (Sweden)

    Shakuntala PN

    2012-10-01

    Full Text Available Estimated incidence of Crigler-Najjar syndrome(CNS is 1 case per 1,000,000 births(1 million. The overall prevalence of CN syndrome is unknown, with only several hundred people reported to have this disease. It is interestingly very rare to encounter a pregnant adult women with congenital jaundice. Pregnancy in CN type II patients is a diagnostic and a therapeutic challenge because of the high risk of bilirubin encephalopathy with serious neurological damage as life-threatening complications for the fetus. To date 8 pregnancy outcome have been reported from 5 women and we report the6 woman with a successful 9 th pregnancy outcome. We have discussed detail history, presentation and management during pregnancy and care of the new born.

  1. Oral-facial-digital syndrome type II: Transitional type between Mohr ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2013-04-16

    Apr 16, 2013 ... The classification system for oral-facial-digital syndromes continues to evolve as ... and 6th fingers, partial syndactyly between the 3rd and 4th, and between the .... related disorders. This type is usually diagnosed by the molar.

  2. Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes.

    Science.gov (United States)

    Cohen, D M; Green, J G; Miller, J; Gorlin, R J; Reed, J A

    1987-10-01

    Carpenter syndrome (ACPS type II) was first described by Carpenter in 1901. The syndrome consists of acrocephaly, soft tissue syndactyly, brachy- or agenesis mesophalangy of the hands and feet, preaxial polydactyly, congenital heart disease, mental retardation, hypogenitalism, obesity, and umbilical hernia. Here we review the literature on Carpenter syndrome and add 2 affected sibs with marked intrafamilial variability. This review showed that 2 reported variations of Carpenter syndrome, Goodman and Summitt syndromes, actually fall within the clinical spectrum of this disorder. This confirms earlier suggestions of Gorlin (personal communication 1982) and Hall et al [Am J Med Genet 5:423-434, 1980].

  3. Acute coronary syndrome in diclofenac sodium-induced type I hypersensitivity reaction : Kounis syndrome

    OpenAIRE

    Gluvic, Zoran M.; Putnikovic, Biljana; Panic, Milos; Stojkovic, Aleksandra; Rasic-Milutinovic, Zorica; Jankovic-Gavrilovic, Jelena

    2007-01-01

    Drug-induced type I hypersensitivity reactions are frequent. Sometimes, acute coronary syndrome (ACS) can be registered in such patients, which may have a serious impact on the course and management of the allergic reaction. Because of potentially atypical ACS clinical presentations, the ECG is an obligatory diagnostic tool in any allergic reaction. Coronary artery spasm is the pathophysiological basis of ACS, triggered by the action of potent vasoactive mediators (histamine, neutral protease...

  4. Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome

    Directory of Open Access Journals (Sweden)

    Meltem Ozdemir-Karatas

    2014-01-01

    Full Text Available Background. The orofaciodigital syndromes (OFDS are a heterogeneous group of syndromes that affect the face, oral cavity, and the digits. OFDS type IV (OMIM %258860 is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, micrognathia, hypoplastic mandible, and low-set ears. Oral symptoms may include cleft lip, cleft or highly arched palate, bifid uvula, cleft or hypoplastic maxillary and mandibular alveolar ridge, oral frenula, lingual hamartoma, and absent or hypoplastic epiglottis. Dental anomalies are common and generally include disturbances in the number of teeth. Case Report. This report presents a six-year-old girl, referred with the chief complaint of missing teeth. She was diagnosed as having OFDS type IV based on clinical findings. Her parents reported three deceased children and two fetuses that had the same phenotype. She was the seventh child of consanguineous parents who were first cousins. Conclusion. This is a very rare syndrome. Many reported OFDS type IV cases have consanguineous parents, consistent with an autosomal recessive trait. Manifestation of cleft palate in the healthy sibling may be mild expression of the disorder or an unrelated isolated cleft.

  5. Type I lepra reaction presenting as immune reconstitution inflammatory syndrome.

    Science.gov (United States)

    Kharkar, Vidya; Bhor, Urmila H; Mahajan, Sunanda; Khopkar, Uday

    2007-01-01

    Immune reconstitution inflammatory syndrome (IRIS) is an unusual inflammatory reaction due to infectious and non-infectious causes occurring in human Immunodeficiency virus (HIV)-infected patients. IRIS occurs after the initiation of antiretroviral therapy. There are no reports of type I lepra reaction due to IRIS in published literature from India. We report two cases of HIV-infected males who presented with borderline tuberculoid leprosy in type 1 reaction after the initiation of highly active antiretroviral treatment (HAART). Case 1 presented with multiple, tender, erythematous and hypoesthetic plaques on the trunk and extremities after 3 months of antiretroviral therapy. In case 2, type I lepra reaction was observed 2 months after the initiation of HAART.

  6. Oral and dental findings of griscelli syndrome type 3

    Directory of Open Access Journals (Sweden)

    Ozlem Marti Akgun

    2015-09-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive genetic disorder characterized by variable immunodeficiency, partial albinism, abnormal accumulation of melanosomes in melanocytes, pigmentary dilution of the skin, and shiny silver-gray hair. GS has three types, with the first and second types caused by mutations in two genes being located at band 15q21: RAB27A and MYO5A. The expression of the third form of GS is restricted to the characteristic hypopigmentation of GS, and results from mutation in the gene that encodes melanophilin MLPH. It has also been shown that an identical phenotype can result from the deletion of the MYO5A F-exon. The aim of this case report is the presentation of oral and dental features and SEM images of the hair of a 12-year-old girl with GS type 3. [Arch Clin Exp Surg 2015; 4(3.000: 164-167

  7. Advances in the pathogenesis of cardiorenal syndrome type 3.

    Science.gov (United States)

    Clementi, Anna; Virzì, Grazia Maria; Brocca, Alessandra; de Cal, Massimo; Pastori, Silvia; Clementi, Maurizio; Granata, Antonio; Vescovo, Giorgio; Ronco, Claudio

    2015-01-01

    Cardiorenal syndrome (CRS) type 3 is a subclassification of the CRS whereby an episode of acute kidney injury (AKI) leads to the development of acute cardiac injury or dysfunction. In general, there is limited understanding of the pathophysiologic mechanisms involved in CRS type 3. An episode of AKI may have effects that depend on the severity and duration of AKI and that both directly and indirectly predispose to an acute cardiac event. Experimental data suggest that cardiac dysfunction may be related to immune system activation, inflammatory mediators release, oxidative stress, and cellular apoptosis which are well documented in the setting of AKI. Moreover, significant derangements, such as fluid and electrolyte imbalance, metabolic acidosis, and uremia, which are typical features of acute kidney injury, may impair cardiac function. In this review, we will focus on multiple factors possibly involved in the pathogenesis issues regarding CRS type 3.

  8. Advances in the Pathogenesis of Cardiorenal Syndrome Type 3

    Directory of Open Access Journals (Sweden)

    Anna Clementi

    2015-01-01

    Full Text Available Cardiorenal syndrome (CRS type 3 is a subclassification of the CRS whereby an episode of acute kidney injury (AKI leads to the development of acute cardiac injury or dysfunction. In general, there is limited understanding of the pathophysiologic mechanisms involved in CRS type 3. An episode of AKI may have effects that depend on the severity and duration of AKI and that both directly and indirectly predispose to an acute cardiac event. Experimental data suggest that cardiac dysfunction may be related to immune system activation, inflammatory mediators release, oxidative stress, and cellular apoptosis which are well documented in the setting of AKI. Moreover, significant derangements, such as fluid and electrolyte imbalance, metabolic acidosis, and uremia, which are typical features of acute kidney injury, may impair cardiac function. In this review, we will focus on multiple factors possibly involved in the pathogenesis issues regarding CRS type 3.

  9. Management of pregnancy in Crigler Najjar syndrome type 2

    Institute of Scientific and Technical Information of China (English)

    Alisha; Nitin; Chaubal; Ruchir; Patel; Dhaval; Choksi; Kaivan; Shah; Meghraj; Ingle; Prabha; Sawant

    2016-01-01

    Crigler Najjar syndrome is associated with indirect hyperbilirubinemia due to a deficiency of enzyme Uridine Di Phospho Glucoronosyl Transferase(UDPGT).Presented here is a case of a female in the first trimester of pregnancy,who was diagnosed to have type 2 Crigler Najjar syndrome.We also discuss the management of this rare disease especially in pregnancy.Unconjugated bilirubin can cross the placental barrier causing neuro-logical damage in the newborn.Patient was carefully monitored during pregnancy and treatment with pheno-barbitone in low doses was adjusted such that the serum bilirubin levels were below 10 mg/d L.Crigler Najjar syndrome being rare needs to be diagnosed early in pregnancy to avoid adverse fetal outcomes.Phenobarbitone being an inducer of enzyme UDPGT is used as the first line of treatment and is not teratogenic in the low doses used.Treatment protocol followed was on the basis of previous reported cases and successful perinatal outcome was achieved.

  10. Studies on TCM Syndrome Types of Heroin-Dependence

    Institute of Scientific and Technical Information of China (English)

    杜万君; 郭崧

    2004-01-01

    @@ Great advances have been achieved in abstinence treatment on heroin-dependence and prevention of drug-reusing, and a variety of traditional Chinese medicine (TCM) drugs or preparations have been developed and applied in clinic in recent years. The Zheng Tong Ning Granules (正通宁颗粒冲剂), for example, has been tested on healthy volunteers and proved to be more tolerable than clonidine1. However, they are designed only for certain symptoms appeared in a certain stage of the abstinence treatment. A comprehensive study on TCM syndrome types of heroin-dependence and the relevant treatment are still lacking. Following is our pioneer attempt made in this field.

  11. Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy

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    R Rajyalakshmi

    2016-01-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, RAB27A (GS2, and MLPH (GS3 genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent infections and hemophagocytic lymphohistiocytosis. We, herewith, describe a case of GS type 2, in a 4-year-old male child who presented with chronic and recurrent fever, lymphadenopathy, hepatosplenomegaly, and secondary neurological deterioration; highlighting the cytological and histopathological features of lymph nodes. Hair shaft examination of the child confirmed the diagnosis.

  12. Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation

    DEFF Research Database (Denmark)

    Born, Alfred Peter; Müller, Klaus; Marquart, Hanne Vibeke;

    2010-01-01

    Griscelli syndrome is an autosomal recessive disorder characterized by pigmentary dilution and is occasionally associated with a hemophagocytic syndrome (type 2). We present a 13-year-old girl with Griscelli syndrome type 2, who developed a hemophagocytic syndrome along with marked muscle weakness...... and elevated plasma creatine kinase. Muscle biopsy showed massive inflammatory changes in some fascicles, while other fascicles were relatively spared. Clinical symptoms and biopsy changes resolved after immunosuppression and allogeneic hematopoietic cell transplantation. Our results suggest that muscle...

  13. Primary Biliary Cirrhosis and Type II Autoimmune Polyglandular Syndrome

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    Mark Ram Borgaonkar

    1999-01-01

    Full Text Available A 45-year-old female was diagnosed with Hashimoto’s thyroiditis in 1976 and Addison’s disease in 1979. At that time, her antimitochondrial antibody (AMA level was elevated at 1:32. She subsequently developed premature ovarian failure and type I diabetes mellitus. In 1996, she became jaundiced with a cholestatic enzyme pattern. AMA was positive at a titre of 1:256. A liver biopsy confirmed the diagnosis of primary biliary cirrhosis (PBC. She underwent a liver transplantation in January 1998. This is the first report of PBC in association with type II autoimmune polyglandular syndrome. The association of PBC with other organ-specific autoimmune diseases supports an immune-mediated pathogenesis and may have implications in further studies of PBC.

  14. Chronic pain in hypermobility syndrome and Ehlers–Danlos syndrome (hypermobility type: it is a challenge

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    Scheper MC

    2015-08-01

    Full Text Available Mark C Scheper,1,2 Janneke E de Vries,1–3 Jeanine Verbunt,3,4 Raoul HH Engelbert1,2 1School of Physiotherapy, Amsterdam University of Applied Sciences, Amsterdam, 2Department of Rehabilitation, Academic Medical Center, University of Amsterdam, Amsterdam, 3Department of Rehabilitation Medicine, CAPHRI School for Public Health and Primary Care, Maastricht University, Maastricht; 4Adelante, Center of expertise in Rehabilitation and Audiology, Hoensbroek, the Netherlands Abstract: Generalized joint hypermobility (GJH is highly prevalent among patients diagnosed with chronic pain. When GJH is accompanied by pain in ≥4 joints over a period ≥3 months in the absence of other conditions that cause chronic pain, the hypermobility syndrome (HMS may be diagnosed. In addition, GJH is also a clinical sign that is frequently present in hereditary diseases of the connective tissue, such as the Marfan syndrome, osteogenesis imperfecta, and the Ehlers–Danlos syndrome. However, within the Ehlers–Danlos spectrum, a similar subcategory of patients having similar clinical features as HMS but lacking a specific genetic profile was identified: Ehlers–Danlos syndrome hypermobility type (EDS-HT. Researchers and clinicians have struggled for decades with the highly diverse clinical presentation within the HMS and EDS-HT phenotypes (Challenge 1 and the lack of understanding of the pathological mechanisms that underlie the development of pain and its persistence (Challenge 2. In addition, within the HMS/EDS-HT phenotype, there is a high prevalence of psychosocial factors, which again presents a difficult issue that needs to be addressed (Challenge 3. Despite recent scientific advances, many obstacles for clinical care and research still remain. To gain further insight into the phenotype of HMS/EDS-HT and its mechanisms, clearer descriptions of these populations should be made available. Future research and clinical care should revise and create consensus on the

  15. [Clinical practice guideline 'Complex regional pain syndrome type I'].

    Science.gov (United States)

    Perez, R S G M; Zollinger, P E; Dijkstra, P U; Thomassen-Hilgersom, I L; Zuurmond, W W A; Rosenbrand, C J G M; Geertzen, J H B

    2007-07-28

    The development and treatment ofthe complex regional pain syndrome type I (CRPS-I) are a subject of much discussion. Using the method for the development ofevidence-based guidelines, a multidisciplinary guideline for the diagnosis and treatment of this syndrome has been drawn up. The diagnosis of CRPS-I is based on the clinical observation of signs and symptoms. For pain treatment, the WHO analgesic ladder is advised up to step z. In case of pain ofa neuropathic nature, anticonvulsants and tricyclic antidepressants may be considered. For the treatment ofinflammatory symptoms, free-radical scavengers (dimethylsulphoxide or acetylcysteine) are advised. In order to enhance peripheral blood flow, vasodilatory medication may be considered. Percutaneous sympathetic blockades may be used for a cold extremity ifvasodilatory medication produces insufficient effect. To decrease functional limitations, standardised physiotherapy and occupational therapy are advised. To prevent the occurrence of CRPS-I after wrist fractures, the use of vitamin C is recommended. Adequate perioperative analgesia, limitation of operation time and limited use of bloodlessness are advised for the secondary prevention of CRPS-I. Use of regional anaesthetic techniques can also be considered in this connection.

  16. Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report

    Science.gov (United States)

    Rincón-Sánchez, Ana Rosa; Arce, Irma Elia; Tostado-Rabago, Enrique Alejandro; Vargas, Alberto; Padilla-Gómez, Luis Alfredo; Bolaños, Alejandro; Barrios-Guyot, Selenne; Anguiano-Alvarez, Víctor Manuel; Ledezma-Rodríguez, Víctor Chistian; Islas-Carbajal, María Cristina; Rivas-Estilla, Ana María; Feria-Velasco, Alfredo; Dávalos, Nory Omayra

    2012-01-01

    Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders whose primary clinical features include soft and extensible skin, articular hypermobility and tissue fragility. EDS type VIIC or ‘human dermatosparaxis’ is an autosomal recessive disease characterized by severe skin fragility and sagging redundant skin (major criteria) with a soft, doughy texture, easy bruising, premature rupture of fetal membranes and large hernias (minor criteria). Dermatosparaxis (meaning ‘tearing of skin’), which has been described in several non-human species, is a disorder of the connective tissue resulting from a deficiency of the enzyme that cleaves the registration peptide off the N-terminal end of collagen after it has been secreted from fibroblasts. We describe a Mexican case from consanguineous parents with all the phenotypical characteristics previously described, plus skeletal abnormalities. PMID:22787447

  17. Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report

    Directory of Open Access Journals (Sweden)

    Ana Rosa Rincón-Sánchez

    2012-04-01

    Full Text Available Ehlers-Danlos syndrome (EDS is a heterogeneous group of heritable connective tissue disorders whose primary clinical features include soft and extensible skin, articular hypermobility and tissue fragility. EDS type VIIC or ‘human dermatosparaxis’ is an autosomal recessive disease characterized by severe skin fragility and sagging redundant skin (major criteria with a soft, doughy texture, easy bruising, premature rupture of fetal membranes and large hernias (minor criteria. Dermatosparaxis (meaning ‘tearing of skin’, which has been described in several non-human species, is a disorder of the connective tissue resulting from a deficiency of the enzyme that cleaves the registration peptide off the N-terminal end of collagen after it has been secreted from fibroblasts. We describe a Mexican case from consanguineous parents with all the phenotypical characteristics previously described, plus skeletal abnormalities.

  18. Type III Mixed Cryoglobulinemia and Antiphospholipid Syndrome in a Patient With Partial DiGeorge Syndrome

    Directory of Open Access Journals (Sweden)

    Alice D. Chang

    2006-01-01

    Full Text Available We studied a 14 year-old boy with partial DiGeorge syndrome (DGS, status post complete repair of Tetralogy of Fallot, who developed antiphospholipid syndrome (APS and type III mixed cryoglobulinemia. He presented with recurrent fever and dyspnea upon exertion secondary to right pulmonary embolus on chest computed tomography (CT. Coagulation studies revealed homozygous methylene tetrahydrofolate reductase 677TT mutations, elevated cardiolipin IgM antibodies, and elevated β2-glycoprotein I IgM antibodies. Infectious work-up revealed only positive anti-streptolysin O (ASO and anti-DNAse B titers. Autoimmune studies showed strongly positive anti-platelet IgM, elevated rheumatoid factor (RF, and positive cryocrit. Renal biopsy for evaluation of proteinuria and hematuria showed diffuse proliferative glomerulonephritis (DPGN with membranoproliferative features consistent with cryoglobulinemia. Immunofixation showed polyclonal bands. Our patient was treated successfully with antibiotics, prednisone, and mycophenolate mofetil (MMF. This is the first report of a patient with partial DGS presenting with APS and type III mixed cryoglobulinemia possibly due to Streptococcal infection.

  19. Type III mixed cryoglobulinemia and antiphospholipid syndrome in a patient with partial DiGeorge syndrome.

    Science.gov (United States)

    Chang, Alice D; Tachdjian, Raffi; Gallagher, Kerry; McCurdy, Deborah K; Lassman, Charles; Stiehm, E Richard; Yadin, Ora

    2006-01-01

    We studied a 14 year-old boy with partial DiGeorge syndrome (DGS), status post complete repair of Tetralogy of Fallot, who developed antiphospholipid syndrome (APS) and type III mixed cryoglobulinemia. He presented with recurrent fever and dyspnea upon exertion secondary to right pulmonary embolus on chest computed tomography (CT). Coagulation studies revealed homozygous methylene tetrahydrofolate reductase 677TT mutations, elevated cardiolipin IgM antibodies, and elevated beta(2)-glycoprotein I IgM antibodies. Infectious work-up revealed only positive anti-streptolysin O (ASO) and anti-DNAse B titers. Autoimmune studies showed strongly positive anti-platelet IgM, elevated rheumatoid factor (RF), and positive cryocrit. Renal biopsy for evaluation of proteinuria and hematuria showed diffuse proliferative glomerulonephritis (DPGN) with membranoproliferative features consistent with cryoglobulinemia. Immunofixation showed polyclonal bands. Our patient was treated successfully with antibiotics, prednisone, and mycophenolate mofetil (MMF). This is the first report of a patient with partial DGS presenting with APS and type III mixed cryoglobulinemia possibly due to Streptococcal infection.

  20. [Research on the correlation between Chinese medical syndrome types and objective indices of Wilson's disease].

    Science.gov (United States)

    Wang, Gong-qiang; Ma, Xin-feng; Wang, Wei; Sun, Quan; Zhou, Zhi-hua; Han, Yong-zhu

    2013-11-01

    To explore the correlation between Chinese medical syndrome types of Wilson's disease (WD) and clinical materials as well as physical and chemical indices. Totally 116 WD patients were typed by Chinese medical syndrome. The correlation between Chinese medical syndrome types and clinical materials as well as physical and chemical indices were analyzed using binary stepwise Logistic regression by SPSS 19.0 Software, taking the common Chinese medical syndrome types as the dependent variable and clinical materials as well as physical and chemical indices as the independent variables. Gan-Galibladder dampness-heat syndrome (GGDHS, 35.3%). Gan-stagnation and Pi-deficiency syndrome (GSPDS, 13.8%), Gan-Shen yin deficiency syndrome (GSYDS, 13.8%), and phlegm-dampness retention syndrome (PDRS, 12.1%) were most often seen. GGDHS was positively correlated with grade of K-F ring, total bilirubin (TBIL), alanine transaminase (ALT), laminin (LN) (P types, ceruloplasmin (CP), aspartate aminotransferase (AST), and total protein (TP) (P types were correlated with clinical materials, physical and chemical indices in WD patients, which could provide experimental reference for Chinese medical syndrome typing. GGDHS, GSPDS, GSYDS, and PDRS were most often seen.

  1. Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II

    Directory of Open Access Journals (Sweden)

    Subodh Banzal

    2014-01-01

    Full Text Available Autoimmune polyendocrine syndrome Type II (APS II, also known as polyglandular autoimmune syndrome Type II or Schmidt syndrome, is constellations of multiple endocrine gland insufficiencies. It is a rare, but most common of the immunoendocrinopathy syndrome. It is characterized by the obligatory occurrence of autoimmune Addison′s disease in combination with thyroid autoimmune diseases and/or Type I diabetes, hypogonadism, hypophysitis, myasthenia gravis, vitiligo, alopecia, pernicious anemia, and celiac disease. Here, we report a case of 38-year-old female patient presented with shock, further diagnosed to have APS II.

  2. Hyperuricaemia and the metabolic syndrome in type 2 DM

    Directory of Open Access Journals (Sweden)

    Ogbera Anthonia O

    2010-04-01

    Full Text Available Abstract Background Elevated serum uric acid levels (SUA have been associated with an increased risk of cardiovascular diseases and the metabolic syndrome (MetS and are often reported to be higher in females than in males. The aim of this report is to determine the prevalence and clinical correlates of hyperuricaemia and also to evaluate associations with the MetS in people with type 2 diabetes mellitus (DM. Methods This was a cross-sectional study conducted in people with type 2 DM in Lagos, Nigeria. Hyperuricaemia was defined by cut-off values of > 7 mg/dl for men and > 6 mg/dl for women. The diagnosis of MetS was made using the new definition by the American Heart Association and other related bodies. Clinical and biochemical parameters were compared between subjects with hyperuricaemia and normouricaemia. Statistical analysis included usage of Student's t test, Pearson correlation coefficients, multivariate regression analysis and chi square. Results 601 patients with type 2 DM aged between 34-91 years were recruited for the study. The prevalence rates of hyperuricaemia and the MetS were 25% and 60% respectively. The frequency of occurrence of hyperuricaemia was comparable in both genders (59% vs 41%, p = 0.3. Although, the prevalence of the MetS in subjects with hyperuricaemia and normouricaemia was comparable (61 vs 56%, p = 0.1, a higher proportion of hyperuricaemic subjects had 3 or more components of the Mets compared with normouricaemic subjects. Possible predictors of hyperuricaemia include central obesity, smoking and elevated serum triglycerides (TG. SUA levels were found to be positively and significantly associated with serum TG (r = 0.2, p = 0.0001 and total cholesterol (r = 13, p = 0.001. Conclusion The prevalence of hyperuricaemia in subjects with type 2 DM is comparable in both genders and possible predictors of hyperuricaemia are potentially modifiable. SUA is positively and significantly associated with serum TG and total

  3. Endovascular repair of multiple infrageniculate aneurysms in a patient with vascular type Ehlers-Danlos syndrome.

    Science.gov (United States)

    Domenick, Natalie; Cho, Jae S; Abu Hamad, Ghassan; Makaroun, Michel S; Chaer, Rabih A

    2011-09-01

    Patients with vascular type Ehler-Danlos syndrome can develop aneurysms in unusual locations. We describe the case of a 33-year-old woman with vascular type Ehlers-Danlos syndrome who developed metachronous tibial artery aneurysms that were sequentially treated with endovascular means.

  4. Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

    Science.gov (United States)

    Castori, Marco; Morlino, Silvia; Pascolini, Giulia; Blundo, Carlo; Grammatico, Paola

    2015-03-01

    Gastrointestinal involvement is a well known complication of Ehlers-Danlos syndromes (EDSs), mainly in form of abdominal emergencies due to intestinal/abdominal vessels rupture in vascular EDS. In the last decade, a growing number of works investigated the relationship between a wide spectrum of chronic gastrointestinal complaints and various EDS forms, among which the hypermobility type (a.k.a. joint hypermobility syndrome; JHS/EDS-HT) was the most studied. The emerging findings depict a major role for gastrointestinal involvement in the health status and, consequently, management of JHS/EDS-HT patients. Nevertheless, fragmentation of knowledge limits its impact on practice within the boundaries of highly specialized clinics. In this paper, literature review on gastrointestinal manifestations in JHS/EDS-HT was carried out and identified papers categorized as (i) case-control/cohort studies associating (apparently non-syndromic) joint hypermobility and gastrointestinal involvement, (ii) case-control/cohort studies associating JHS/EDS-HT and gastrointestinal involvement, (iii) case reports/series on various gastrointestinal complications in (presumed) JHS/EDS-HT, and (iv) studies reporting gastrointestinal features in heterogeneous EDS patients' cohorts. Gastrointestinal manifestations of JHS/EDS-HT were organized and discussed in two categories, including structural anomalies (i.e., abdominal/diaphragmatic hernias, internal organ/pelvic prolapses, intestinal intussusceptions) and functional features (i.e., dysphagia, gastro-esophageal reflux, dyspepsia, recurrent abdominal pain, constipation/diarrhea), with emphasis on practice and future implications. In the second part of this paper, a summary of possible nutritional interventions in JHS/EDS-HT was presented. Supplementation strategies were borrowed from data available for general population with minor modifications in the light of recent discoveries in the pathogenesis of selected JHS/EDS-HT features.

  5. Reflex sympathetic dystrophy/complex regional pain syndrome, type 1

    Directory of Open Access Journals (Sweden)

    S.H. Botha

    2004-02-01

    Full Text Available Complex regional pain syndrome (CPRS, type 1 is a pain disorder that develops unpredictably and can follow a minor injury. A 12-year-old boy presented with severe pain in the feet and could not walk or stand weight bearing. Normal X-rays showed osteopenic changes and radiolucent lines, which appeared to be stress fractures. Three-phase bone scintigraphy showed no uptake in the left lower leg on the blood pool phase or on the immediate or delayed images. This indicated typical CPRS type 1 in children. The uptake in the right foot was increased and the stress fracture and other illness could not be differentiated. Computed tomography was done to exclude stress fractures. Only osteopenic changes in both calcaneus bones were found and there was no evidence of cortical stress fractures. Magnetic resonance images revealed oedema in the calcaneus and talus bones of both feet. The patient received epidural narcotic infusion with sympathetic blockage for 1 week combined with extensive physiotherapy. The blood pool phase of the bone scan became normal within 2 weeks, and increased uptake in both feet was noticed. The patient was followed up with MRI every 3 months and the bone marrow oedema disappeared after 6 months.

  6. Complex regional pain syndromes (CRPS type 1 validating case histories

    Directory of Open Access Journals (Sweden)

    P. Berger

    2003-02-01

    Full Text Available The treatment of patients with complex regional pain syndrome (CRPS type 1 is challenging and unpredictable as the condition presents with vascular and neuropathic symptoms after nil or even minor injury to a peripheral nerve. The condition is one of a pain and motor dysfunction. The pathophysiology is not well understood and the relief of symptoms may change from being sympathetically mediated to sympathetically independent during  the course of the disease. At any stage physiotherapy has been advocated as the corner stone and most important aspect of treatment in the rehabilitation of these individuals but unfortunately it has been difficult to execute when pain is exacerbated due to allodynia (unbearable to touch or move and hyperalgesia. Best results have been obtained if the patients are recognised and treated in the early or acute phase and it has been found that through careful assessment and analysis these patients can be recognised by previous events that have occurred in their initial case history. The treatment in the acute stage with physiotherapy modalities such as electrical stimulation and acupuncture will produce an early cessation of the symptoms and prevention of the disease developing into the fully blown CRPS type 1 with irreversible and possibly atrophic consequences. Case histories have been presented that illustrate these important aspects and demonstrate  the value of early and the appropriate physiotherapy that may be more successful than other pharmacological and physical interventions in this disease.

  7. A mouse model for Meckel syndrome type 3.

    Science.gov (United States)

    Cook, Susan A; Collin, Gayle B; Bronson, Roderick T; Naggert, Jürgen K; Liu, Dong P; Akeson, Ellen C; Davisson, Muriel T

    2009-04-01

    Meckel-Gruber syndrome type 3 (MKS3; OMIM 607361) is a severe autosomal recessive disorder characterized by bilateral polycystic kidney disease. Other malformations associated with MKS3 include cystic changes in the liver, polydactyly, and brain abnormalities (occipital encephalocele, hydrocephalus, and Dandy Walker-type cerebellar anomalies). The disorder is hypothesized to be caused by defects in primary cilia. In humans, the underlying mutated gene, TMEM67, encodes transmembrane protein 67, also called meckelin (OMIM 609884), which is an integral protein of the renal epithelial cell and membrane of the primary cilium. Here, we describe a spontaneous deletion of the mouse ortholog, Tmem67, which results in polycystic kidney disease and death by 3 wk after birth. Hydrocephalus also occurs in some mutants. We verified the mutated gene by transgenic rescue and characterized the phenotype with microcomputed tomography, histology, scanning electron microscopy, and immunohistochemistry. This mutant provides a mouse model for MKS3 and adds to the growing set of mammalian models essential for studying the role of the primary cilium in kidney function.

  8. Rules for distinguishing toxicants that cause type I and type II narcosis syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Veith, G.D.; Broderius, S.J. (Environmental Protection Agency, Environmental Research Laboratory-Duluth, MN (USA))

    1990-07-01

    Narcosis is a nonspecific reversible state of arrested activity of protoplasmic structures caused by a wide variety of organic chemicals. The vast majority of industrial organic chemicals can be characterized by a baseline structure-toxicity relationship as developed for diverse aquatic organisms, using only the n-octanol/water partition coefficient as a descriptor. There are, however, many apparent narcotic chemicals that are more toxic than baseline narcosis predicts. Some of these chemicals have been distinguished as polar narcotics. Joint toxic theory and isobole diagrams were used to show that chemicals strictly additive with phenol were generally more toxic than predicted by narcosis I models and characterized by a different mode of action called narcosis II syndrome. This type of toxicity is exemplified by certain amides, amines, phenols, and nitrogen heterocycles. Evidence is provided that suggests that narcosis II syndrome may result from the presence of a strong hydrogen bonding group on the molecule, and narcosis I syndrome results from hydrophobic bonding of the chemical to enzymes and/or membranes. This shift in toxic action is apparently indistinguishable for narcotic chemicals with log P greater than about 2.7. General rules for selecting the appropriate models are proposed.

  9. PFEIFFER TYPE I SYNDROME: A GENETICALLY PROVEN CASE REPORT

    Directory of Open Access Journals (Sweden)

    Sh. Salehpour

    2008-06-01

    Full Text Available ObjectivePfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population. At the best of our knowledge this is the first genetically proven case report from Iran. The authors report with a review of literature, the case of a infant with Pfeiffer syndrome, manifested by Lacunar skull, ventriculomegaly, bicoronal craniosynostosis,frontal bossing, shallow orbits, parrot-like nose, umbilical hernia, broad and medially deviated great toes.

  10. STURGE-WEBER SYNDROME: A TYPE OF PHAKOMATOSIS

    OpenAIRE

    Shruti S.; Ravi Raja

    2014-01-01

    Sturge-Weber syndrome (SWS) (MIM ID 185300) (ORPHA 3205) (ICD 10 code - Q85.8) or encephalotrigeminalangiomatosis belongs to group of disorders collectively called asphakomatoses (“mother-spot” disease). This rare congenital neurocutaneous syndrome is characterized by unilateral facial cutaneous vascular malformations affecting the eye and skin in association with ipsilateralleptomeningealangiomatosis. [1,2] In 1860, Schirmer first identified this syndrome, and Stur...

  11. PFEIFFER TYPE I SYNDROME: A GENETICALLY PROVEN CASE REPORT

    Directory of Open Access Journals (Sweden)

    Sh. Salehpour

    2008-10-01

    Full Text Available ObjectivePfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population. At the best of our knowledge this is the first genetically proven case report from Iran. The authors report with a review of literature, the case of a infant with Pfeiffer syndrome, manifested by Lacunar skull, ventriculomegaly, bicoronal craniosynostosis,frontal bossing, shallow orbits, parrot-like nose, umbilical hernia, broad and medially deviated great toes.Keywords: Acrocephalosyndactylia, Craniosynostoses, Broad and great toes, Pfeiffer, Syndrome

  12. Brain imaging in cerebellar ataxia associated with autoimmune polyglandular syndrome type 2.

    Science.gov (United States)

    Manto, Mario; Jissendi, P

    2012-07-01

    Autoimmune polyglandular syndrome (APS) type 2 (Schmidt syndrome) is a disorder characterized by a combination of autoimmune adrenal insufficiency, autoimmune thyroid disease, and type 1 autoimmune diabetes mellitus. We describe the first case of subacute cerebellar syndrome associated with APS type 2. Brain magnetic resonance imaging showed atrophy of the cerebellum and the vermis, as well as of the anterior pituitary gland. Magnetic resonance spectroscopy showed decreased N-acetylaspartate/creatine ratio in the cerebellum and in the pons. Our findings expand the spectrum of neurological deficits in APS type 2 and underlines that cerebellar pathways may be a main target of the disorder. © 2010 by the American Society of Neuroimaging.

  13. Relationship of Adrenocortical Function and TCM Syndrome Typing in Elderly Patients with Severe Sepsis

    Institute of Scientific and Technical Information of China (English)

    吴海云; 危成筠; 朱广卿; 许强; 张健; 王士雯

    2004-01-01

    Objective: To explore the relationship between TCM Syndrome typing and adrenocortical function in elderly patients with severe sepsis, and to see whether TCM Syndrome Differentiation can provide clinical clues in identifying relative adrenal insufficiency (RAI) in patients with severe sepsis. Methods: Six ty-one old patients with severe sepsis were classified into four types according to TCM Syndrome Differentiation: The severe invasion of toxic-heat type (Type SITH, n = 21 ); the Qi stagnation and blood stasis type ( Type QSBS, n = 11); the sudden depletion of Yang-Qi type ( Type SDYQ, n = 16); and the exhaustion of Qi-Yin type (Type EOQY, n = 13). The base-line level of plasma cortisol in patients of different types and their response to corticotropin stimulation were compared, which were also compared with those of 12 healthy elderly persons synchronously. Results: The base-line level of plasma cortisol was not significantly different between patients of different Syndrome types (P>0.05), but they were all sgnificantly higher than that in the healthy persons ( P<0.05). Compared with Type QSBS and Type EOQY, Type SITH and Type SDYQ showed less cortisol concentration increment after corticotropin stimulation ( P<0.05). RAI was more prevalent in patients of Type SITH and Type SDYQ than in patients of Type QSBS and Type EOQY (57% vs 25 %, P<0.01). Conclusion: In old patients with severe sepsis, different TCM Syndrome types are associated with different adrenocortical function status. TCM Syndrome differentiation can provide clinical clues in identifying old patients with severe sepsis who have also RAI.

  14. Meretoja’s Syndrome: Lattice Corneal Dystrophy, Gelsolin Type

    Directory of Open Access Journals (Sweden)

    I. Casal

    2017-01-01

    Full Text Available Lattice corneal dystrophy gelsolin type was first described in 1969 by Jouko Meretoja, a Finnish ophthalmologist. It is caused by an autosomal dominant mutation in gelsolin gene resulting in unstable protein fragments and amyloid deposition in various organs. The age of onset is usually after the third decade of life and typical diagnostic triad includes progressive bilateral facial paralysis, loose skin, and lattice corneal dystrophy. We report a case of a 53-year-old female patient referred to our Department of Ophthalmology by severe dry eye and incomplete eyelid closure. She had severe bilateral facial paresis, significant orbicularis, and perioral sagging as well as hypoesthesia of extremities and was diagnosed with Meretoja’s syndrome at the age of 50, confirmed by the presence of gelsolin mutation. At our observation she had bilateral diminished tear film break-up time and Schirmer test, diffuse keratitis, corneal opacification, and neovascularization in the left eye. She was treated with preservative-free lubricants and topical cyclosporine, associated with nocturnal complete occlusion of both eyes, and underwent placement of lacrimal punctal plugs. Ocular symptoms are the first to appear and our role as ophthalmologists is essential for the diagnosis, treatment, and monitoring of ocular alterations in these patients.

  15. [Oral diseases in auto-immune polyendocrine syndrome type 1].

    Science.gov (United States)

    Proust-Lemoine, Emmanuelle; Guyot, Sylvie

    2017-07-03

    Auto-immune polyendocrine syndrome type 1 (APS1) also called Auto-immune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) is a rare monogenic childhood-onset auto-immune disease. This autosomal recessive disorder is caused by mutations in the auto-immune regulator (AIRE) gene, and leads to autoimmunity targeting peripheral tissues. There is a wide variability in clinical phenotypes in patients with APSI, with auto-immune endocrine and non-endocrine disorders, and chronic mucocutaneous candidiasis. These patients suffer from oral diseases such as dental enamel hypoplasia and candidiasis. Both are frequently described, and in recent series, enamel hypoplasia and candidiasis are even the most frequent components of APS1 together with hypoparathyroidism. Both often occur during childhood (before 5 years old for canrdidiasis, and before 15 years old for enamel hypoplasia). Oral candidiasis is recurrent all life long, could become resistant to azole antifungal after years of treatment, and be carcinogenic, leading to severe oral squamous cell carcinoma. Oral components of APS1 should be diagnosed and rigorously treated. Dental enamel hypoplasia and/or recurrent oral candidiasis in association with auto-immune diseases in a young child should prompt APS1 diagnosis. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  16. [Fabry's disease: an example of cardiorenal syndrome type 5].

    Science.gov (United States)

    Villa, Gianluca; Romagnoli, Stefano; Sharma, Aashish; Ronco, Claudio

    2017-03-01

    Fabry's disease (FD) is a severe congenital metabolic disorder characterized by the deficient activity of lysosomal exoglycohydrolase alpha-galactosidase, characterized by glycosphingolipid deposition in several cells, such as capillary endothelial cells, renal, cardiac, and nerve cells. As a systemic disease leading to a contemporaneous myocardial and renal dysfunction, FD might be an example of cardiorenal syndrome type 5 (CRS-5). Kidney damage is commonly characterized by proteinuria, isosthenuria and altered tubular function when occurs at the second-third decade, azotemia and end-stage renal disease in third-fifth decade. Beyond the irreversible glomerular, tubular and vascular damages, the podocytes foot process effacement is the major cause of kidney dysfunction. Myocardial damage is usually observed with right and left ventricular hypertrophy, arrhythmias (due to sinus node and conduction system impairment), diastolic dysfunction, congestive heart failure, myocardial ischemia, fibrosis and cardiac death. The enzymatic replacement therapy is essential for the management of FD, as well as the control of renal (with anti-proteinuric agents such as angiotensin-converting enzyme inhibitors- and/or angiotensin II receptor blockers), brain (coated aspirin, clopidogrel and statins to prevent strokes) and heart complications (calcium channel blockers for ischemic cardiomyopathy, warfarin and amiodarone or cardioverter device for arrhythmias). Copyright by Società Italiana di Nefrologia SIN, Rome, Italy.

  17. Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis

    OpenAIRE

    2016-01-01

    Purpose Usher syndrome accounts for about 50% of all hereditary deaf-blindness cases. The most severe form of this syndrome, Usher syndrome type I (USH1), is characterized by profound congenital sensorineural deafness, vestibular dysfunction, and retinitis pigmentosa. Six USH1 genes have been identified, MYO7A, CDH23, PCDH15, USH1C, SANS, and CIB2, encoding myosin VIIA, cadherin-23, protocadherin-15, harmonin, scaffold protein containing ankyrin repeats and a sterile alpha motif (SAM) domain,...

  18. Griscelli syndrome type 2 – A case report and clinical approach to silver blonde hair

    Directory of Open Access Journals (Sweden)

    Sana Durrani

    2016-04-01

    Full Text Available Griscelli syndrome type 2 is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by pigmentary dilution of the skin and hair causing silvery gray hair, hemophagocytic lymphohistiocytosis and characteristic light microscopy findings in scalp hair shaft seen as large irregular clumps of pigment as opposed to the evenly distributed pigment along the hair shaft without any clumps. We describe a boy with classic features of Griscelli syndrome type 2 from Pakistan in whom a homozygous mutation in the RAB27A gene was identified that showed a single base substitution (c.598C>T predicted to cause premature protein termination (p.Arg200∗. We also present a clinical approach to silver blonde hair differentiating between the Griscelli syndrome types 1, 2 and 3, Chediak Hegashi Syndrome and Elejalde Syndrome.

  19. STURGE-WEBER SYNDROME: A TYPE OF PHAKOMATOSIS

    Directory of Open Access Journals (Sweden)

    Shruti S.

    2014-10-01

    Full Text Available Sturge-Weber syndrome (SWS (MIM ID 185300 (ORPHA 3205 (ICD 10 code - Q85.8 or encephalotrigeminalangiomatosis belongs to group of disorders collectively called asphakomatoses (“mother-spot” disease. This rare congenital neurocutaneous syndrome is characterized by unilateral facial cutaneous vascular malformations affecting the eye and skin in association with ipsilateralleptomeningealangiomatosis. [1,2] In 1860, Schirmer first identified this syndrome, and Sturge in 1879 described it in detail; later Frederick Parkes Weber in 1992 demonstrated intracranial calcification. [1,2] The prevalence of the diseases 1 : 50,000 live birth sand equally affects males and females with no racial predilection.

  20. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

    DEFF Research Database (Denmark)

    Meeths, Marie; Bryceson, Yenan T; Rudd, Eva

    2010-01-01

    Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndrom...

  1. Peripheral nerve pathology in patients with severely affected complex regional pain syndrome type I

    NARCIS (Netherlands)

    Geertzen, Jan H. B.; Bodde, Marlies I.; van den Dungen, Johannes; Dijkstra, Pieter U.; den Dunnen, Wilfred F. A.

    2015-01-01

    Complex regional pain syndrome type I (CRPS-I) is a chronic pain syndrome with no clinical evidence of nerve injury; however, recently, changes in muscle tissue have been found in case of CRPS-I. Our aim was to search for histological changes in peripheral nerves of amputated limbs from patients wit

  2. Association of a congenital long QT syndrome type 1 with Takotsubo cardiomyopathy

    OpenAIRE

    El?Battrawy, Ibrahim; Behnes, Michael; Borggrefe, Martin; Akin, Ibrahim

    2016-01-01

    Key Clinical Message The occurrence of takotsubo cardiomyopathy in a patient with congenital long QT syndrome has rarely been described. This case report discusses the occurrence of a clinically overt takotsubo cardiomyopathy accompanied by congenital long QT syndrome type 1 in a female patient.

  3. [Ehler-Danlos syndrome (type V) with urethra bifida and polydactyly: an unusual combination].

    Science.gov (United States)

    Manna, R; Modugno, I; Pala, M A; Caputo, S; Caradonna, E; Greco, A V

    1981-06-30

    Ehlers-Danlos syndrome is currently regarded as a connective tissue dysplasia. Its genetic, biochemical, histological and clinical features are described, together with a personal case in a patient who presented the fundamental symptoms, plus polydactyly and bifid urethra. This association had not been hitherto reported in the literature. The case itself is classed as Ehlers-Danlos syndrome type V.

  4. Amputation for Long-Standing, Therapy-Resistant Type-I Complex Regional Pain Syndrome

    NARCIS (Netherlands)

    Krans-Schreuder, H.K.; Bodde, M.I.; Schrier, E.; Dijkstra, P.U.; van den Dungen, J.A.; den Dunnen, W.F.; Geertzen, J.H.

    2012-01-01

    Background: Some patients with long-standing, therapy-resistant typed complex regional pain syndrome consider an amputation. There is a lack of evidence regarding the risk of recurrence of the pain syndrome and patient outcomes after amputation. The goal of the present study was to evaluate the impa

  5. Type 1 diabetes: Syndromes in resource-challenged settings.

    Science.gov (United States)

    Nagesh, V Sri; Kalra, Sanjay

    2015-06-01

    Type 1 Diabetes is a complex disorder that is made more complex by the myriad of co-morbid conditions associated with it. Mauriac Syndrome is a well-known but nowadays uncommon condition that presents with growth retardation secondary to poor glycaemic control. Limited Joint Mobility is an often-missed association of diabetes. Its importance lies in the fact that it can cause significant impairment of fine movements in T1DM children. It also indicates poor glycaemic control over a long period of time and can be used as a surrogate marker for development of diabetic microvascular complications. Anaemia in T1DM is protean and can develop due to a combination of nutritional factors, chronic renal disease, coeliac disease and worm infestation. Management is etiological. Vitamin deficiencies are ubiquitous in T1DM and if left untreated, can lead to neurological, haematological and skeletal dysfunction. The best-known co-morbid conditions are the local site reactions clubbed together under the moniker lipodystrophies. These can be either atrophic or hypertrophic and are usually due to repeated injections at the same site, improper technique and needle re-use. Management is often difficult and they are best prevented by appropriate diabetes education and emphasis on proper injection techniques at the time of T1DM diagnosis, with periodic reinforcement. Amyloidosis is a little known condition that shares a lot of features in common with the lipodystrophies and often needs to be differentiated from lipohypertrophy. T1DM is a disease which is often associated with a poor quality of life and these co-morbid conditions also need to be treated for effective general and psychological well-being.

  6. Cushing’s Syndrome in Multiple Endocrine Neoplasia Type 1

    Science.gov (United States)

    Simonds, William F.; Varghese, Sarah; Marx, Stephen J.; Nieman, Lynnette K.

    2011-01-01

    Summary Objective In patients with multiple endocrine neoplasia type 1 (MEN1), Cushing’s syndrome (CS) from endogenous hypercortisolism can result from pituitary, adrenal, or other endocrine tumors. The purpose of this study was to characterize the range of presentations of CS in a large series of MEN1 patients. Design Retrospective review of NIH Clinical Center inpatient records over an approximately 40 year period. Patients 19 patients (8 males, 11 females) with CS and MEN1. Measurements Biochemical, imaging, surgical, and pathological findings. Results An etiology was determined for 14 of the 19 patients with CS and MEN1: 11 (79%) had Cushing’s disease (CD) and three (21%) had ACTH-independent CS due to adrenal tumors, frequencies indistinguishable from sporadic CS. Three of 11 MEN1 patients with CD (27%) had additional non-ACTH secreting pituitary microadenomas identified at surgery, an incidence 10-fold higher than in sporadic CD. Ninety-one percent of MEN1 patients with CD were cured after surgery. Two of three MEN1 patients with ACTH-independent CS (67%) had adrenocortical carcinoma. One patient with adrenal cancer and another with adrenal adenoma were cured by unilateral adrenalectomy. No case of ectopic ACTH secretion was identified in our patient cohort. The etiology of CS could not be defined in five patients; in three of these, hypercortisolism appeared to resolve spontaneously. Conclusions The tumor multiplicity of MEN1 can be reflected in the anterior pituitary, MEN1-associated ACTH-independent CS may be associated with aggressive adrenocortical disease, and an etiology for CS in MEN1 may be elusive in a substantial minority of patients. PMID:21916912

  7. Sudden infant death syndrome: methodological and patogenetical types of diagnosis

    Directory of Open Access Journals (Sweden)

    B.I. Glukhovets

    2011-01-01

    Full Text Available The review presents an analysis of literature data on pathogenesis of sudden infant death syndrome (SIDS in comparison with author’s experience of infants dead in home. Diagnostic significance of qualified autopsy examinations in analysis of infants’ death is shown. Frequent combination of morphogenetic cardiopathy and early signs of atrial myocarditis can be estimated as pathogenetic basis of SIDS.Key words: sudden infant death syndrome, morphogenetic cardiopathy, atrial myocarditis.

  8. Cephalic malformations in Saethre-Chotzen syndrome. Acrocephalosyndactyly type III.

    Science.gov (United States)

    Evans, C A; Christiansen, R L

    1976-11-01

    Specific anomalies of the skull in eight family members affected with Saethre-Chotzen syndrome were documented by cephalometric analysis of standardized skull radiographs. The most severe deviations included reduced length and abnormal position of the posterior cranial base, low position of the sella turcica, reduced mandibular ramus length, steep mandibular plane angle, and, in adults, reduced facial depth. A feature of the syndrome may be the absence or reduced size of cranial sinuses.

  9. Features of burnout syndrome development in healthcare workers with different types of work motivation

    Directory of Open Access Journals (Sweden)

    Vezhnovets T.A.

    2016-05-01

    Full Text Available The article presents the results of researches of peculiarities of burnout syndrome formation in healthcare workers with different types of work motivation. It is discovered that the syndrome is formed for each motivational type as mechanism of psychological protection against the action of certain stressful factors, namely: for instrumental type – an excessive concentration on obtaining material rewards; for professional type – an excessive control of emotions in substantial professional communications and high psycho-emotional overload; for patriotic type – high level of dependence on social approval, a high level of communicative activity, a high level of psycho-emotional overload, for economical type – distrust, for lumpenized – any labor. Prevention of burnout syndrome in healthcare workers has to be realized taking into account peculiarities of psycho-traumatic factors depending on the type of work motivation.

  10. Oral–Facial–Digital Syndrome type VI with self mutilations

    African Journals Online (AJOL)

    Rabah M. Shawky

    2014-06-24

    Jun 24, 2014 ... However, classification into the sub- types is not ... Additionally, cognitive functions are impaired ... encode for proteins of the primary cilium [13]. Based on ..... [15] Varadi V, Papp Z. 25 Years' history of Varadi Papp syndrome.

  11. Neuroimaging strategies for three types of Horner syndrome with emphasis on anatomic location.

    Science.gov (United States)

    Lee, Jeong Hyun; Lee, Ho Kyu; Lee, Deok Hee; Choi, Choong Gon; Kim, Sang Joon; Suh, Dae Chul

    2007-01-01

    The purposes of this study were to review the anatomy of the oculosympathetic pathway, to describe the clinical characteristics of the three types of Horner syndrome, and to illustrate underlying pathologic features with an emphasis on neuroimaging strategies based on three symptom complexes. Horner syndrome results from interruption of the oculosympathetic pathway and is usually associated with unique clinical features classified into central, preganglionic, and postganglionic types according to the anatomic location of the underlying pathologic process.

  12. Distinct Gene Expression Signatures in Lynch Syndrome and Familial Colorectal Cancer Type X

    DEFF Research Database (Denmark)

    Valentin, Mev; Therkildsen, Christina; Veerla, Srinivas;

    2013-01-01

    Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects.......Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects....

  13. Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene

    NARCIS (Netherlands)

    Colige, A; Nuytinck, L; Hausser, [No Value; van Essen, AJ; Thiry, M; Herens, C; Ades, LC; Malfait, F; De Paepe, A; Franck, P; Wolff, G; Oosterwijk, JC; Smitt, JHS; Lapiere, CM; Nusgens, BV

    2004-01-01

    Ehlers-Danlos syndrome (EDS) type VIIC, or dermatosparactic type, is a recessively inherited connective tissue disorder characterized, among other symptoms, by an extreme skin fragility resulting from mutations inactivating ADAMTS-2, an enzyme excising the aminopropeptide of procollagens type I, II,

  14. Insulin gene polymorphisms in type 1 diabetes, Addison's disease and the polyglandular autoimmune syndrome type II

    Directory of Open Access Journals (Sweden)

    Hahner Stefanie

    2008-07-01

    Full Text Available Abstract Background Polymorphisms within the insulin gene can influence insulin expression in the pancreas and especially in the thymus, where self-antigens are processed, shaping the T cell repertoire into selftolerance, a process that protects from β-cell autoimmunity. Methods We investigated the role of the -2221Msp(C/T and -23HphI(A/T polymorphisms within the insulin gene in patients with a monoglandular autoimmune endocrine disease [patients with isolated type 1 diabetes (T1D, n = 317, Addison's disease (AD, n = 107 or Hashimoto's thyroiditis (HT, n = 61], those with a polyglandular autoimmune syndrome type II (combination of T1D and/or AD with HT or GD, n = 62 as well as in healthy controls (HC, n = 275. Results T1D patients carried significantly more often the homozygous genotype "CC" -2221Msp(C/T and "AA" -23HphI(A/T polymorphisms than the HC (78.5% vs. 66.2%, p = 0.0027 and 75.4% vs. 52.4%, p = 3.7 × 10-8, respectively. The distribution of insulin gene polymorphisms did not show significant differences between patients with AD, HT, or APS-II and HC. Conclusion We demonstrate that the allele "C" of the -2221Msp(C/T and "A" -23HphI(A/T insulin gene polymorphisms confer susceptibility to T1D but not to isolated AD, HT or as a part of the APS-II.

  15. Klinefelter's Syndrome with Seizure, Pseudohypoparathyroidism Type Ib and Multiple Endocrine Dysfunctions

    Directory of Open Access Journals (Sweden)

    Chwen-Yi Yang

    2005-12-01

    Full Text Available Klinefelter's syndrome is rarely associated with hypocalcemia, especially pseudohypoparathyroidism (PHP type Ib. We describe a case of Klinefelter's syndrome associated with seizure, PHP type Ib and multiple endocrine dysfunctions. A 19-year-old Taiwanese male was admitted due to seizures with loss of consciousness. He had been diagnosed with Klinefelter's syndrome with seizure disorder and hypocalcemia 3 months previously. Physical examination revealed eunuchoidism but no osteodystrophy, while laboratory data revealed severe hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone. Chromosomal study showed 47, XXY. Osteoporosis was found on chest and abdominal radiography. Dense calcification in the cerebrum and cerebellum was shown on brain computed tomography and magnetic resonance imaging. Elevation of the patient's serum calcium level was noted after vitamin D and calcium carbonate supplements were given. Klinefelter's syndrome is rarely associated with PHP type Ib; our patient's hypocalcemia improved after long-term aggressive treatment.

  16. Family Therapy of the Moderate Type of Parental Alienation Syndrome.

    Science.gov (United States)

    Gardner, Richard A.

    1999-01-01

    Modification of traditional family therapy approaches are warranted if there is to be any chance of success in the treatment of Parental Alienation Syndrome families. Especially important is the full support of the court. Describes the special family therapeutic techniques warranted in the treatment of families in which the Parental Alienation…

  17. A Critical Evaluation of the Down Syndrome Diagnosis for LB1, Type Specimen of Homo floresiensis.

    Science.gov (United States)

    Baab, Karen L; Brown, Peter; Falk, Dean; Richtsmeier, Joan T; Hildebolt, Charles F; Smith, Kirk; Jungers, William

    2016-01-01

    The Liang Bua hominins from Flores, Indonesia, have been the subject of intense scrutiny and debate since their initial description and classification in 2004. These remains have been assigned to a new species, Homo floresiensis, with the partial skeleton LB1 as the type specimen. The Liang Bua hominins are notable for their short stature, small endocranial volume, and many features that appear phylogenetically primitive relative to modern humans, despite their late Pleistocene age. Recently, some workers suggested that the remains represent members of a small-bodied island population of modern Austro-Melanesian humans, with LB1 exhibiting clinical signs of Down syndrome. Many classic Down syndrome signs are soft tissue features that could not be assessed in skeletal remains. Moreover, a definitive diagnosis of Down syndrome can only be made by genetic analysis as the phenotypes associated with Down syndrome are variable. Most features that contribute to the Down syndrome phenotype are not restricted to Down syndrome but are seen in other chromosomal disorders and in the general population. Nevertheless, we re-evaluated the presence of those phenotypic features used to support this classification by comparing LB1 to samples of modern humans diagnosed with Down syndrome and euploid modern humans using comparative morphometric analyses. We present new data regarding neurocranial, brain, and symphyseal shape in Down syndrome, additional estimates of stature for LB1, and analyses of inter- and intralimb proportions. The presence of cranial sinuses is addressed using CT images of LB1. We found minimal congruence between the LB1 phenotype and clinical descriptions of Down syndrome. We present important differences between the phenotypes of LB1 and individuals with Down syndrome, and quantitative data that characterize LB1 as an outlier compared with Down syndrome and non-Down syndrome groups. Homo floresiensis remains a phenotypically unique, valid species with its roots

  18. Pathophysiology of the cardio-renal syndromes types 1-5: An uptodate.

    Science.gov (United States)

    Di Lullo, L; Bellasi, A; Barbera, V; Russo, D; Russo, L; Di Iorio, B; Cozzolino, M; Ronco, C

    According to the recent definition proposed by the Consensus conference on Acute Dialysis Quality Initiative Group, the term cardio-renal syndrome (CRS) has been used to define different clinical conditions in which heart and kidney dysfunction overlap. Type 1 CRS (acute cardio- renal syndrome) is characterized by acute worsening of cardiac function leading to AKI (5, 6) in the setting of active cardiac disease such as ADHF, while type - 2 CRS occurs in a setting of chronic heart disease. Type 3 CRS is closely link to acute kidney injury (AKI), while type 4 represent cardiovascular involvement in chronic kidney disese (CKD) patients. Type 5 CRS represent cardiac and renal involvement in several diseases such as sepsis, hepato - renal syndrome and immune - mediated diseases. Copyright © 2017 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

  19. Phantom eye syndrome: types of visual hallucinations and related phenomena

    DEFF Research Database (Denmark)

    Roed Rasmussen, Marie Louise; Prause, Jan U; Rasmussen, Marie Louise Roed

    2009-01-01

    most often white or colored light, as a continuous sharp light or as moving dots. The most frequent triggers were darkness, closing of the eyes, fatigue, and psychological stress; 54% of patients had the experience more than once a week. Ten patients were so visually disturbed that it interfered......PURPOSE: To describe the prevalence of phantom eye syndrome in eye-amputated patients, to give a description of visual hallucinations, and to identify triggers, stoppers, and emotions related to visual hallucinations. METHODS: The hospital database was screened, using surgery codes for patients who...... hallucinations and pain was performed by one trained questioner (M.L.R.R.). RESULTS: The prevalence of phantom eye syndrome was 51%. Elementary visual hallucinations were present in 36%, complex visual hallucinations in only 1%, and other visual hallucinations in 14%. The elementary visual hallucinations were...

  20. Type 2 Pfeiffer syndrome. Report of a case and review of the literature

    Directory of Open Access Journals (Sweden)

    Roldán Arce Jorge

    2014-07-01

    Full Text Available Pfeiffer syndrome is a rare autosomal dominant disease that affects almost 1 out of every 100,000 live newborns, and it is associated with craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly in hands and feet. Three types of this syndrome have been described based on the presence of other abnormalities and the severity of the condition. “Classic” type 1 consists of mild severity with normal to near-normal intelligence and generally a good prognosis. Type 2 is characterized by a cloverleaf skull, severe proptosis, elbow ankylosis or synostosis, growth retardation and life-threatening neurological and respiratory complications. Type 3 is similar to type 2 but without the cloverleaf cranium. This syndrome is genetically heterogeneous, it is caused by mutations in the fibroblast growth factor receptor genes FGFR- 1 or FGFR-2. Occasionally Pfeiffer syndrome can be diagnosed prenatally by sonography or molecularly if the causative mutation is known. Management must be multidisciplinary and it includes multiple-staged surgery. In this report we present the clinical and radiographic findings in female newborn, whose clinical features were consistent with Pfeiffer syndrome type 2. A brief updated review of the literature is included.

  1. Corticotropin-releasing factor receptor type 1 and type 2 interaction in irritable bowel syndrome.

    Science.gov (United States)

    Nozu, Tsukasa; Okumura, Toshikatsu

    2015-08-01

    Irritable bowel syndrome (IBS) displays chronic abdominal pain or discomfort with altered defecation, and stress-induced altered gut motility and visceral sensation play an important role in the pathophysiology. Corticotropin-releasing factor (CRF) is a main mediator of stress responses and mediates these gastrointestinal functional changes. CRF in brain and periphery acts through two subtype receptors such as CRF receptor type 1 (CRF1) and type 2 (CRF2), and activating CRF1 exclusively stimulates colonic motor function and induces visceral hypersensitivity. Meanwhile, several recent studies have demonstrated that CRF2 has a counter regulatory action against CRF1, which may imply that CRF2 inhibits stress response induced by CRF1 in order to prevent it from going into an overdrive state. Colonic contractility and sensation may be explained by the state of the intensity of CRF1 signaling. CRF2 signaling may play a role in CRF1-triggered enhanced colonic functions through modulation of CRF1 activity. Blocking CRF2 further enhances CRF-induced stimulation of colonic contractility and activating CRF2 inhibits stress-induced visceral sensitization. Therefore, we proposed the hypothesis, i.e., balance theory of CRF1 and CRF2 signaling as follows. Both CRF receptors may be activated simultaneously and the signaling balance of CRF1 and CRF2 may determine the functional changes of gastrointestinal tract induced by stress. CRF signaling balance might be abnormally shifted toward CRF1, leading to enhanced colonic motility and visceral sensitization in IBS. This theory may lead to understanding the pathophysiology and provide the novel therapeutic options targeting altered signaling balance of CRF1 and CRF2 in IBS.

  2. Importance of genetic factors in the occurrence of epilepsy syndrome type: a twin study

    DEFF Research Database (Denmark)

    Corey, Linda A; Pellock, John M; Kjeldsen, Marianne J

    2011-01-01

    Although there is strong evidence that genetic factors contribute to risk for epilepsy, their role in the determination of syndrome type is less clear. This study was undertaken to address this question. Information related to epilepsy was obtained from twins included in 455 monozygotic and 868...... dizygotic pairs ascertained from population-based twin registries in Denmark, Norway and the United States. Syndrome type was determined based on medical record information and detailed clinical interviews and classified using the International Classification Systems for the Epilepsies and Epileptic...... Syndromes. Concordance rates were significantly increased in monozygotic versus dizygotic pairs for all major syndrome groups except localization-related cryptogenic epilepsy. Among generalized epilepsies, genetic factors were found to play an important role in the determination of childhood absence...

  3. Influence of coffee brew in metabolic syndrome and type 2 diabetes.

    Science.gov (United States)

    Abrahão, Sheila Andrade; Pereira, Rosemary Gualberto Fonseca Alvarenga; de Sousa, Raimundo Vicente; Lima, Adriene Ribeiro; Crema, Gabriela Previatti; Barros, Bianca Sacramento

    2013-06-01

    This study aimed to evaluate the effect of coffee drinking on clinical markers of diabetes and metabolic syndrome in Zucker rats. Diabetic Zucker rats with metabolic syndrome and control Zucker rats were used for in vivo tests. The animals received daily doses of coffee drink by gavage for 30 days. After the treatment, the levels of glucose, triglycerides, total cholesterol and fractions, creatinine, uric acid, activity of aspartate aminotransferase and alanine aminotransferase were evaluated. Urea and creatinine levels were also analyzed in urine. By collaborating in the modulation of the metabolic syndrome and diabetes mellitus type 2, coffee drink helped in reducing serum glucose, total cholesterol and triglycerides. The results demonstrate that treatment with roasted coffee drink, because of its hypoglycemic and hypolipidemic effect, is efficient in the protection of animals with metabolic syndrome and diabetes mellitus type 2.

  4. Metabolic syndrome and type 2 diabetes mellitus: focus on peroxisome proliferator activated receptors (PPAR

    Directory of Open Access Journals (Sweden)

    Fisman Enrique Z

    2003-03-01

    Full Text Available Abstract The metabolic syndrome is a highly prevalent clinical entity. The recent Adult Treatment Panel (ATP III guidelines have called specific attention to the importance of targeting the cardiovascular risk factors of the metabolic syndrome as a method of risk reduction therapy. The main factors characteristic of this syndrome are abdominal obesity, atherogenic dyslipidemia, elevated blood pressure, insulin resistance (with or without glucose intolerance, prothrombotic and proinflammatory states. An insulin resistance following nuclear peroxisome proliferator activated receptors (PPAR deactivation (mainly obesity-related is the key phase of metabolic syndrome initiation. Afterwards, there are 2 principal pathways of metabolic syndrome development: 1 with preserved pancreatic beta cells function and insulin hypersecretion which can compensate for insulin resistance. This pathway leads mainly to the macrovascular complications of metabolic syndrome; 2 with massive damage of pancreatic beta cells leading to progressively decrease of insulin secretion and to hyperglycemia (e.g. overt type 2 diabetes. This pathway leads to both microvascular and macrovascular complications. We suggest that a PPAR-based appraisal of metabolic syndrome and type 2 diabetes may improve our understanding of these diseases and set a basis for a comprehensive approach in their treatment.

  5. Nonfunctional Metastatic Parathyroid Carcinoma in the Setting of Multiple Endocrine Neoplasia Type 2A Syndrome

    Directory of Open Access Journals (Sweden)

    María Posada-González

    2014-01-01

    Full Text Available Parathyroid carcinoma is a very rare malignancy. It has been associated with hyperparathyroidism-jaw tumour syndrome, familial isolated primary hyperparathyroidism, and multiple endocrine neoplasia type 1 (MEN-1 and 2A (MEN-2A syndromes. We report a 54-year-old man with a MEN-2A which presents with a nonfunctional metastatic parathyroid carcinoma and a pheochromocytoma in the absence of medullary thyroid carcinoma. Only a few cases of parathyroid carcinoma have been reported in the literature associated with this syndrome.

  6. Oro-facial-digital syndrome type II. Report of the case

    Directory of Open Access Journals (Sweden)

    Edel, Tamy

    2017-01-01

    Full Text Available Oro-facial-digital syndrome (OFD is a rare congenital disorder. Its incidence in the general population ranges from less than 1/1.000.000 to 1/250.000 living births. Patients usually present developmental disorders that affect the mouth, face, hands and feet. So far, most of the genes involved are unknown, so diagnosis is clinical. We report the case of a child with oral, facial, and digital alterations, and hearing impairment suggestive of the OFD syndrome. Phenotype was consistent with the type II variant. Discussion is based on the criteria for variants of the syndrome.

  7. Do you know this syndrome? Type 2 benign symmetric lipomatosis (Launois-Bensaude)*

    Science.gov (United States)

    Esposito, Ana Cláudia Cavalcante; Munhoz, Tania; Abbade, Luciana Patrícia Fernandes; Miot, Hélio Amante

    2016-01-01

    A 57-year-old female showed bulky, loose tumors, which progressively spread to her arms, anterior chest, and back. She reported dysphagia and dyspnea after mild exertion. She denied alcohol consumption. CT scan of her chest showed no internal lesions. Benign symmetric lipomatosis is a rare syndrome, clinically described as multiple nonencapsulated lipomas of various sizes and symmetrical distribution. This syndrome has three known phenotypes; in type 2 (Launois-Bensaude syndrome), lesions occur primarily on the shoulders, upper arms, and chest, and is unrelated to alcoholism. It causes aesthetic deformities and might block the upper airways. Mediastinal invasion might occur as well. PMID:28099616

  8. Coffee intake and risk of obesity, metabolic syndrome and type 2 diabetes

    DEFF Research Database (Denmark)

    Nordestgaard, Ask Tybjærg; Thomsen, Mette; Nordestgaard, Børge Grønne

    2015-01-01

    BACKGROUND: Coffee is one of the most widely consumed beverages. We tested the hypothesis that genetically high coffee intake is associated with low risk of obesity, metabolic syndrome and type 2 diabetes, and with related components thereof. METHODS: We included 93,179 individuals from two large...... general population cohorts in a Mendelian randomization study. We tested first whether high coffee intake is associated with low risk of obesity, metabolic syndrome and type 2 diabetes, and with related components thereof, in observational analyses; second, whether five genetic variants near the CYP1A1......, CYP1A2 and AHR genes are associated with coffee intake; and third, whether the genetic variants are associated with obesity, metabolic syndrome and type 2 diabetes, and with related components thereof. Finally, we tested the genetic association with type 2 diabetes in a meta-analysis including up...

  9. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome in the pre-Columbian culture of Colombia

    Directory of Open Access Journals (Sweden)

    Harry Pachajoa

    2014-07-01

    Full Text Available Mucopolysaccharidosis type VI or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism, with intelligence usually normal. We present evidence of the possible existence of Maroteaux Lamy syndrome in pre-Columbian pottery 2000 years ago, in the Colombo Ecuadorian Pacific coast of the Tumaco-Tolita culture. 

  10. Chronic type B aortic dissection in association with Hemolyticuremic syndrome in a child

    OpenAIRE

    2013-01-01

    Aortic dissection (AD) is a potentially life-threatening medical emergency usually encountered in the elderly. Here, we report a 9-year-old child who was incidentally detected to have asymptomatic chronic type B dissecting aneurysm of aorta when he presented with relapse of Hemolytic uremic syndrome (HUS) without any genetic abnormalities like Marfan or Ehler-Danlos syndrome. To the best of our knowledge, this is the first case of AD associated with HUS in a child without any known associated...

  11. Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients.

    NARCIS (Netherlands)

    Plantinga, R.F.; Kleemola, L.; Huygen, P.L.M.; Joensuu, T.; Sankila, E.M.; Pennings, R.J.E.; Cremers, C.W.R.J.

    2005-01-01

    Audiometric features, evaluated by serial pure tone audiometry and speech recognition tests (n = 31), were analysed in 59 Finnish Usher syndrome type III patients (USH3) with Finmajor/Finmajor (n = 55) and Finmajor/Finminor (n = 4) USH3A mutations. These patients showed a highly variable type and de

  12. A rare combination of type 3 autoimmune polyendocrine syndrome (APS-3) or multiple autoimmune syndrome (MAS-3)

    OpenAIRE

    Betterle, Corrado; Garelli, Silvia; Coco, Graziella; Burra, Patrizia

    2014-01-01

    Context Type 3 autoimmune polyendocrine syndrome (APS-3) is defined by the presence of an autoimmune thyroid disease and another autoimmune illness, excluding Addison’s disease; this is a frequent combination. Case presentation We report the case of a 55 years old female patient with APS-3, with seven clinical or latent autoimmune manifestations. At 49 years of age she was admitted at the General Hospital for leukopenia, weight loss, tremors, anxiety and diarrhea. The personal history reveale...

  13. Griscelli Syndrome Type 2; A Pediatric Case with Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Parviz Tabatabaie

    2007-09-01

    Full Text Available A 3.5 month-old girl was admitted with silvery gray hair, light  colored skin, recurrent diarrhea, chest infections, hepatosplenomegaly, episodes of pancytopenia, and hemophagocytosis in the bone marrow. Light microscopy of hair showed characteristic large and irregular clumps of melanin in the middle of hair shaft. Peripheral blood smear examination did not show giant granules in granulocytes. On the basis of these clinical and laboratory findings, Griscelli syndrome was diagnosed. The child succumbed to infection during an accelerated phase of the disease.

  14. Relationship between Fatigue and Gait Abnormality in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

    Science.gov (United States)

    Celletti, Claudia; Galli, Manuela; Cimolin, Veronica; Castori, Marco; Albertini, Giorgio; Camerota, Filippo

    2012-01-01

    Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterised by joint hypermobility, skin hyperextensibility and tissue fragility. It has recently been shown that muscle weakness occurs frequently in EDS, and that fatigue is a common and clinically important symptom. The…

  15. Canagliflozin improves risk factors of metabolic syndrome in patients with type 2 diabetes mellitus and metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Davies MJ

    2017-01-01

    Full Text Available Michael J Davies,1 Katherine W Merton,1 Ujjwala Vijapurkar,2 Dainius A Balis,2 Mehul Desai2 1Janssen Scientific Affairs, LLC, Titusville, NJ, USA; 2Janssen Research & Development, LLC, Raritan, NJ, USA Objective: Metabolic syndrome refers to a collection of risk factors associated with the development of cardiovascular disease and type 2 diabetes mellitus (T2DM. Canagliflozin, a sodium glucose co-transporter 2 inhibitor, improves glycemic control and reduces body weight and blood pressure (BP in a broad range of patients with T2DM. This post hoc analysis assessed the effects of canagliflozin on the components of metabolic syndrome in patients with T2DM and metabolic syndrome.Methods: This analysis was based on data from 2 head-to-head studies of canagliflozin in patients with T2DM on background metformin versus glimepiride (study 1 and background metformin plus sulfonylurea versus sitagliptin 100 mg (study 2. Changes from baseline in glycemic efficacy, anthropometric measures, BP, and lipids were evaluated with canagliflozin versus glimepiride and sitagliptin at week 52 in patients who met ≥2 of the criteria for metabolic syndrome (in addition to T2DM: triglycerides ≥1.7 mmol/L; high-density lipoprotein cholesterol (HDL-C <1.0 mmol/L (men or <1.3 mmol/L (women; waist circumference ≥102 cm (non-Asian men, ≥88 cm (non-Asian women, >90 cm (Asian men, or >80 cm (Asian women; diagnosis of hypertension or meeting BP-related criteria (systolic BP ≥130 mmHg or diastolic BP ≥85 mmHg. Safety was assessed based on adverse event reports.Results: In study 1, canagliflozin 100 and 300 mg provided similar and greater HbA1c reductions versus glimepiride, respectively. In study 2, canagliflozin 300 mg provided greater HbA1c lowering versus sitagliptin 100 mg. Canagliflozin also reduced fasting plasma glucose, body weight, body mass index, waist circumference, BP, and triglycerides, and increased HDL-C and low-density lipoprotein cholesterol versus

  16. Intestinal lymphangiectasia in a patient with autoimmune polyglandular syndrome type III.

    Science.gov (United States)

    Choudhury, Bipul Kumar; Saiki, Uma Kaimal; Sarm, Dipti; Choudhury, Bikash Narayan; Choudhury, Sarojini Dutta; Saharia, Dhiren; Saikia, Mihir

    2011-11-01

    Autoimmune polyglandular syndromes (APS) comprise a wide clinical spectrum of autoimmune disorders. APS is divided into Type I, Type II, Type I and Type IV depending upon the pattern of disease combination. Ghronic diarrhoea is one of the many manifestations of APS and many aetiological factors have been suggested for it. Apart from the established aetiological factors, intestinal lymphangiectasia may be responsible for chronic diarrhea in some cases.Intestinal lymphangiectasia has been reported in Type I APS. We report a case of Type III APS with hypocalcaemia and hypothyroidism who had chronic diarrhea of long duration and was finally diagnosed to have intestinal lymphangiectasia.

  17. Estudios citogenéticos y moleculares en una población sorda institucionalizada con síndrome de Waardenburg en Colombia

    Directory of Open Access Journals (Sweden)

    Morell R.

    2001-06-01

    Full Text Available El Síndrome de Waardenburg (WS es un desorden autosómico dominante caracterizado por sordera neurosensorial y anormalidades pigmentarias en la piel y faneras. Es clínica y genéticamente heterogéneo y ha sido dividido en 4 subtipos. Según la presencia o ausencia de distopia cantorum (desplazamiento lateral del canto interno de los ojos, se subdividen en WS 1 (gen PAX 3 y WS 2 (gen MITF, respectivamente.

  18. Metabolic syndrome and periodontitis in Gullah African Americans with type 2 diabetes mellitus.

    Science.gov (United States)

    Sora, Nicoleta D; Marlow, Nicole M; Bandyopadhyay, Dipankar; Leite, Renata S; Slate, Elizabeth H; Fernandes, Jyotika K

    2013-06-01

    To assess associations of metabolic syndrome, and its individual components, with extent of severe periodontitis among patients with type 2 diabetes mellitus (T2DM). We performed a secondary data analysis (N = 283) using a cross-sectional study population of Gullah African Americans with T2DM. Extent of severe periodontitis was assessed as total diseased tooth-sites/person [evaluated as separate outcomes: 6+mm clinical attachment level (CAL), 5+mm periodontal probing depth (PPD)] using negative binomial regression techniques. Primary independent variables assessed in separate models included metabolic syndrome (yes/no), each metabolic syndrome component (low HDL, hypertension, high triglycerides, large waist circumference) and glycemic control (poor/good). Multivariable CAL-model results showed a significant association for metabolic syndrome status with extent of severe periodontitis (RR = 2.77, p = 0.03). The separate multivariable CAL-model including each metabolic syndrome component showed marginally increased rates among those with large waist circumference (RR = 2.33, p = 0.09) and those with HbA1c ≥ 7% (RR = 1.73, p = 0.06). Multivariable PPD-models showed marginally increased rates among those with metabolic syndrome (RR = 2.18, p = 0.06). Metabolic syndrome is associated with the extent of severe periodontitis in this Gullah population with T2DM. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. Prevalence of Metabolic Syndrome in Children With Type 1 Diabetes in South of Iran

    Directory of Open Access Journals (Sweden)

    Saki

    2016-08-01

    Full Text Available Objectives The aim of this study was to investigate the prevalence of metabolic syndrome, in children with type one diabetes mellitus (T1DM for the first time in a population in the Middle East, and assess the influence of type of insulin therapy, daily dosage of insulin, family history of type 2 diabetes, gender and level of HbA1c on the prevalence of metabolic syndrome. Methods This cross-sectional study was conducted on children with T1DM aged 2 years during years 2013 to 2014. Waist circumference, blood pressure, height and weight of children with diabetes, for calculation of body mass index (BMI, were measured by one physician. Fasting blood glucose and lipids were also measured. According to the age-modified standards of the ATPIII, metabolic syndrome was defined. All data were analyzed using the SPSS 18 software. Results In this study, 87 children with diabetes (48 females and 39 males aged 12.38 ± 4.2 were enrolled. Overall, 40.9% of our patients had hypertension, 55.2% had hypertriglyceridemia, 36.8% had low high-density lipoprotein (HDL and 6.9% of patients had abdominal obesity. Furthermore, 29.9% of these children had metabolic syndrome, which did not have a significant association with the type of insulin regimen (P = 0.97, nor the daily dosage of insulin (P = 0.234, however the serum concentration of HbA1c had a significant correlation with metabolic syndrome (P = 0.027. Conclusions This study provides evidence indicating high prevalence of metabolic syndrome in children with T1DM in southern Iran. Preventive programs aimed towards decreasing the risk factors of metabolic syndrome and interpretation of a healthier diet and physical activity for children with T1DM should be considered in our country.

  20. Oxidative Stress: Dual Pathway Induction in Cardiorenal Syndrome Type 1 Pathogenesis

    OpenAIRE

    Grazia Maria Virzì; Anna Clementi; Massimo de Cal; Alessandra Brocca; Sonya Day; Silvia Pastori; Chiara Bolin; Giorgio Vescovo; Claudio Ronco

    2015-01-01

    Cardiorenal Syndrome Type 1 (Type 1) is a specific condition which is characterized by a rapid worsening of cardiac function leading to acute kidney injury (AKI). Even though its pathophysiology is complex and not still completely understood, oxidative stress seems to play a pivotal role. In this study, we examined the putative role of oxidative stress in the pathogenesis of CRS Type 1. Twenty-three patients with acute heart failure (AHF) were included in the study. Subsequently, 11 patients ...

  1. Dental implants as Treatment Option in Patients With Osteopenic Syndrome and Type II Diabetes

    OpenAIRE

    M.V. Kozlova; A.M. Mkrtumjan; A.M. Panin; D.R. Tovmasjan

    2009-01-01

    One of the important problems in modern dentistry is the study of jaw bone changes associated with type II diabetes. The aim of this study is to evaluate the influence of osteopenic syndrome on osseointegration when using dental implants in patients with type II diabetes. 40 patients with type II diabetes have been evaluated and assigned to two different groups based on the duration of the disease. Including criteria in patients with compensated diabetes were fasting glucose test results <...

  2. Genetic influences on type 2 diabetes and metabolic syndrome related quantitative traits in Mauritius.

    Science.gov (United States)

    Jowett, Jeremy B; Diego, Vincent P; Kotea, Navaratnam; Kowlessur, Sudhir; Chitson, Pierrot; Dyer, Thomas D; Zimmet, Paul; Blangero, John

    2009-02-01

    Epidemiological studies report a high prevalence of type 2 diabetes and metabolic syndrome in the island nation of Mauritius. The Mauritius Family Study was initiated to examine heritable factors that contribute to these high rates of prevalence and consists of 400 individuals in 24 large extended multigenerational pedigrees. Anthropometric and biochemical measurements relating to the metabolic syndrome were undertaken in addition to family and lifestyle based information for each individual. Variance components methods were used to determine the heritability of the type 2 diabetes and metabolic syndrome related quantitative traits. The cohort was made up of 218 females (55%) and 182 males with 22% diagnosed with type 2 diabetes and a further 30% having impaired glucose tolerance or impaired fasting glucose. Notably BMI was not significantly increased in those with type 2 diabetes (P= .12), however a significant increase in waist circumference was observed in these groups (P= .02). The heritable proportion of trait variance was substantial and greater than values previously published for hip circumference, LDL and total cholesterol, diastolic and systolic blood pressure and serum creatinine. Height, weight and BMI heritabilities were all in the upper range of those previously reported. The phenotypic characteristics of the Mauritius family cohort are similar to those previously reported in the Mauritian population with a high observed prevalence rate of type 2 diabetes. A high heritability for key type 2 diabetes and metabolic syndrome related phenotypes (range 0.23 to 0.68), suggest the cohort will have utility in identifying genes that influence these quantitative traits.

  3. First Case Report of Turcot Syndrome Type 1 in Colombia

    Directory of Open Access Journals (Sweden)

    Vallejo Dora

    2012-01-01

    Full Text Available Turcot syndrome is an autosomal recessive disorder clinically characterized by the occurrence of primary tumors of the central nervous system and adenomatous colonic polyps during the first or second decades of life, with a spectrum of clinical features such as “café-au-lait” spots, axillary freckling, and hyperpigmented spots. Currently its prevalence globally and in Colombia remains unknown. We present the case of a 20-year-old male with a clinical presentation of both glioblastoma multiforme and multiple adenomatous colonic polyps. The molecular genetics study revealed a mutation in KrasAsp12 gene and altered expression of HMSH2 and HMSH6 proteins encoded by the DNA mismatch repair genes in two of the colonic polyps. Even though this clinical presentation may suggest a shorter survival rate, this patient is still alive after seven months of treatment. A literature review complements this report.

  4. Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    Aydin Canpolat

    2014-01-01

    Full Text Available Chiari malformation Type I (CM-I related to syndromic craniosynostosis in pediatric patients has been well-studied. The surgical management consists of cranial vault remodeling with or without posterior fossa decompression. There were also cases, in whom CM-I was diagnosed prior to the craniosynostosis in early childhood. We present a 16-year-old boy who admitted with symptoms related to CM-I. With careful examination and further genetic investigations, a diagnosis of Crouzon syndrome was made, of which the patient and his family was unaware before. The patient underwent surgery for posterior fossa decompression and followed-up for Crouzon′s syndrome. To our knowledge, this is the only case report indicating a late adolescent diagnosis of Crouzon syndrome through clinical symptoms of an associated CM-I.

  5. [Chronic type A aortic dissection associated with Turner syndrome; report of a case].

    Science.gov (United States)

    Tanaka, Hideyuki; Kozaki, Tomofumi; Kume, Masazumi; Miyamoto, Shinji

    2014-12-01

    Aortic dissection is a critical but rare complication of Turner syndrome. This report describes a case of chronic aortic dissection in a patient with Turner syndrome. A 54-year-old woman, suffering from mild back pain for 1 month, was referred to our hospital with a diagnosis of Stanford type A chronic aortic dissection and a bicuspid aortic valve with moderate regurgitation. Computed tomography revealed aortic dissection, involving all arch branches, extending from the ascending to the abdominal aorta. The true lumen of the brachial artery was nearly obstructed by the thrombosed false lumen. Elective aortic arch repair and aortic valve replacement were successfully performed. The patient was diagnosed with 45, XO Turner syndrome after surgery. Taking aortopathy of Turner syndrome into consideration, surveillance of the residual aorta was performed. No rapidly progressive dilatation of the residual aorta was detected during the 6 years' follow-up.

  6. Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

    Directory of Open Access Journals (Sweden)

    Hidekane Yoshimura

    Full Text Available Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical subtypes. Usher syndrome type 1 is the most severe subtype due to its profound hearing loss, lack of vestibular responses, and retinitis pigmentosa that appears in prepuberty. Six of the corresponding genes have been identified, making early diagnosis through DNA testing possible, with many immediate and several long-term advantages for patients and their families. However, the conventional genetic techniques, such as direct sequence analysis, are both time-consuming and expensive. Targeted exon sequencing of selected genes using the massively parallel DNA sequencing technology will potentially enable us to systematically tackle previously intractable monogenic disorders and improve molecular diagnosis. Using this technique combined with direct sequence analysis, we screened 17 unrelated Usher syndrome type 1 patients and detected probable pathogenic variants in the 16 of them (94.1% who carried at least one mutation. Seven patients had the MYO7A mutation (41.2%, which is the most common type in Japanese. Most of the mutations were detected by only the massively parallel DNA sequencing. We report here four patients, who had probable pathogenic mutations in two different Usher syndrome type 1 genes, and one case of MYO7A/PCDH15 digenic inheritance. This is the first report of Usher syndrome mutation analysis using massively parallel DNA sequencing and the frequency of Usher syndrome type 1 genes in Japanese. Mutation screening using this technique has the power to quickly identify mutations of many causative genes while maintaining cost-benefit performance. In addition, the simultaneous mutation analysis of large numbers of genes is useful for detecting mutations in different genes that are possibly disease modifiers or of digenic inheritance.

  7. The impaired proprioception in Ehlers-Danlos Syndrome-Hypermobility Type/Joint hypermobility Syndrome: the rehabilitation role

    Directory of Open Access Journals (Sweden)

    Filippo Camerota

    2015-10-01

    Full Text Available Ehlers-Danlos Syndrome Hypermobility Type/Joint Hypermobility Syndrome (JHS/EDS-HT is an hereditary disorder of the connective tissue mainly manifesting with generalized joint hypermobility and skin hyperextensibility with an involvement of the connective tissue matrix proteins. Collagen alterations may influence the quality of movement in these patients but also movement has a role for the collagen quality: motion has a prevention role in the formation of contractures and adhesions. A poor sense of proprioception correlated with the collagenous connective tissues alterations could explain why people with JHS/EDS-HT become injured, having a lack of sensation of the joint at the end of the range. Rehabilitation approach may consider all these aspects.

  8. Reflex sympathetic dystrophy/complex regional pain syndrome, type 1

    African Journals Online (AJOL)

    Enrique

    (CPRS), type 1 is a pain disorder that develops unpredictably and ... Computed tomography was done to exclude stress ... Magnetic resonance images revealed oedema in the ... with MRI every 3 months and the bone marrow .... spinal cord.

  9. Hereditary epidermolytic palmoplantar keratoderma (Vörner type) in a family with Ehlers-Danlos syndrome.

    Science.gov (United States)

    Mofid, M Z; Costarangos, C; Gruber, S B; Koch, S E

    1998-05-01

    We describe a kindred in whom epidermolytic palmoplantar keratoderma occurred in association with Ehlers-Danlos syndrome type III (benign hypermobility syndrome). This kindred consisted of 27 members of four generations, 14 of whom had palmoplantar keratoderma (PPK). Of those who had palmoplantar keratoderma, 6 had Ehlers-Danlos type III (EDS II). The proband presented with diffuse, symmetrical hyperkeratotic plaques that were yellow and sharply demarcated, covering the entire palms and soles, in addition to marked large and small joint flexibility and skin hyperextensibility. A biopsy specimen from the palm revealed features of epidermolytic hyperkeratosis with acanthosis. To our knowledge, this is the first report of PPK in a family with Ehlers-Danlos syndrome. Linkage analysis of these two clinical traits showed that the genes responsible for PPK and EDS III are not closely linked, and therefore are not immediately adjacent. However, linkage at greater genetic distances could not be excluded.

  10. When the darker eye has the smaller pupil.

    Science.gov (United States)

    Wallis, David H; Granet, David B; Levi, Leah

    2003-06-01

    Waardenburg and congenital Horner syndromes are both recognized causes of congenital hypochromic iris heterochromia. Each has been linked to disruptions in the pathway of tyrosinase induction, thus leading to a deficiency in melanin production of the iris. These syndromes must be considered in the differential diagnosis of a patient presenting with heterochromia iridis. We present the case of a 20-month old boy afflicted with both congenital Horner syndrome and Waardenburg syndrome, type II. In contrast to the more common presentation of congenital Horner syndrome, the affected iris in this case was the darker of the two because of the effects of the concomitant Waardenburg syndrome on the contralateral iris pigmentation. We are unaware of any other cases presenting with both Horner and Waardenburg syndromes and believe that this case serves as an excellent opportunity to briefly review the pathophysiology involved with these disorders.

  11. Incidence, Mortality and Positive Predictive Value of Type 1 Cardiorenal Syndrome in Acute Coronary Syndrome

    Science.gov (United States)

    Pimienta González, Raquel; Couto Comba, Patricia; Rodríguez Esteban, Marcos; Alemán Sánchez, José Juan; Hernández Afonso, Julio; Rodríguez Pérez, María del Cristo; Marcelino Rodríguez, Itahisa; Brito Díaz, Buenaventura; Elosua, Roberto; Cabrera de León, Antonio

    2016-01-01

    Objectives To determine whether the risk of cardiovascular mortality associated with cardiorenal syndrome subtype 1 (CRS1) in patients who were hospitalized for acute coronary syndrome (ACS) was greater than the expected risk based on the sum of its components, to estimate the predictive value of CRS1, and to determine whether the severity of CRS1 worsens the prognosis. Methods Follow-up study of 1912 incident cases of ACS for 1 year after discharge. Cox regression models were estimated with time to event (in-hospital death, and readmission or death during the first year after discharge) as the dependent variable. Results The incidence of CRS1 was 9.2/1000 person-days of hospitalization (95% CI = 8.1–10.5), but these patients accounted for 56.6% (95% CI = 47.4–65.) of all mortality. The positive predictive value of CRS1 was 29.6% (95% CI = 23.9–36.0) for in-hospital death, and 51.4% (95% CI = 44.8–58.0) for readmission or death after discharge. The risk of in-hospital death from CRS1 (RR = 18.3; 95% CI = 6.3–53.2) was greater than the sum of risks associated with either acute heart failure (RR = 7.6; 95% CI = 1.8–31.8) or acute kidney injury (RR = 2.8; 95% CI = 0.9–8.8). The risk of events associated with CRS1 also increased with syndrome severity, reaching a RR of 10.6 (95% CI = 6.2–18.1) for in-hospital death at the highest severity level. Conclusions The effect of CRS1 on in-hospital mortality is greater than the sum of the effects associated with each of its components, and it increases with the severity of the syndrome. CRS1 accounted for more than half of all mortality, and its positive predictive value approached 30% in-hospital and 50% after discharge. PMID:27907067

  12. A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.

    Science.gov (United States)

    Sirchia, Fabio; Di Gregorio, Eleonora; Restagno, Gabriella; Grosso, Enrico; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Pasini, Barbara; Mehta, Jodhbir S; Brusco, Alfredo

    2017-04-01

    We report on a 58-year old woman with microcephaly, mild dysmorphic features, bilateral keratoconus, digital abnormalities, short stature and mild cognitive delay. Except for keratoconus, the phenotype was suggestive for Feingold syndrome type 2 (FGLDS2, MIM 614326), a rare autosomal dominant disorder described in six patients worldwide, due to the haploinsufficiency of MIR17HG, a micro RNA encoding gene. Karyotype showed a de novo deletion on chromosome 13q, further defined by array-Comparative Genomic Hybridization (a-CGH) to a 17.2-Mb region. The deletion included MIR17HG, as expected by the FGLDS2 phenotype, and twelve genes from the keratoconus type 7 locus. Because our patient presented with keratoconus, we propose she further refines disease genes at this locus. Among previously suggested candidates, we exclude DOCK9 and STK24, and propose as best candidates IPO5, DNAJC3, MBNL2 and RAP2A. In conclusion, we report a novel phenotypic association of Feingold syndrome type 2 and keratoconus, a likely contiguous gene syndrome due to a large genomic deletion on 13q spanning MIR17HG and a still to be identified gene for keratoconus. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  13. Possible bradycardic mode of death and successful pacemaker treatment in a large family with features of long QT syndrome type 3 and Brugada syndrome

    NARCIS (Netherlands)

    Van Den Berg, Maarten P.; Wilde, Arthur A. M.; Viersma, Jan Willem; Brouwer, Jan; Haaksma, Jaap; Van Der Hout, Annemieke H.; Stolte-Dijkstra, Irene; Bezzina, Connie R.; Van Langen, Irene M.; Beaufort-Krol, Gertie C. M.; Hein Cornel, J.A.N.; Crijns, Harry J. G. M.

    2001-01-01

    Introduction: We recently identified a novel mutation of SCN5A (1795insD) in a large family with features of both long QT syndrome type 3 and the Brugada syndrome. The purpose of this study was to detail the clinical features and efficacy of pacemaker therapy in preventing sudden death in this famil

  14. Shoulder function, pain and health related quality of life in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type

    DEFF Research Database (Denmark)

    Johannessen, Elise Christine; Reiten, Helle Sundnes; Løvaas, Helene

    2016-01-01

    Purpose To investigate shoulder function, pain and Health-Related Quality of life (HRQoL) among adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type (JHS/EDS-HT), compared with the general population (controls). Method In a cross-sectional study using postal survey...

  15. The association between macronutrient intake and the metabolic syndrome and its components in type 1 diabetes.

    Science.gov (United States)

    Ahola, Aila J; Harjutsalo, Valma; Thorn, Lena M; Freese, Riitta; Forsblom, Carol; Mäkimattila, Sari; Groop, Per-Henrik

    2017-02-20

    Diet is a major modifiable lifestyle factor that may affect the components of the metabolic syndrome. We aimed to investigate the association between relative proportions of macronutrients and the components of the metabolic syndrome in a population of individuals with type 1 diabetes. In all, 791 individuals without nephropathy, with plausible energy intake and known metabolic syndrome status, taking part in the Finnish Diabetic Nephropathy Study were included in the analyses. Dietary data were collected with a diet record. The association between the relative macronutrient intake and the outcome variables were analysed using multivariable nutrient density substitution models. The relative proportions of dietary macronutrients or fatty acids were not associated with the presence of the metabolic syndrome. In men, however, favouring carbohydrates over fats was associated with lower odds of the waist component, whereas favouring either carbohydrates or fats over proteins was associated with lower odds of the blood pressure component of the metabolic syndrome. In women, substituting carbohydrates for fats was associated with lower HDL-cholesterol concentration. Substituting carbohydrates or fats for alcohol or protein was, in men, associated with lower systolic blood pressure. To conclude, the relative distribution of macronutrients may have some relevance for the metabolic syndrome.

  16. Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes.

    Science.gov (United States)

    Lodish, Maya B; Stratakis, Constantine A

    2010-06-01

    Neurofibromatosis type 1 (NF-1) and tuberous sclerosis complex (TSC) are two familial syndromes known as phakomatoses that may be associated with endocrine tumours. These hereditary cutaneous conditions affect the central nervous system and are characterised by the development of hamartomas. Over the past 20 years, there have been major advances in our understanding of the molecular basis of these diseases. Both NF-1 and TSC are disorders of unregulated progression through the cell cycle, in which causative genes behave as tumour suppressor genes. The pathogenesis of these familial syndromes is linked by the shared regulation of a common pathway, the protein kinase mammalian target of rapamycin (mTOR). Additional related disorders that also converge on the mTOR pathway include Peutz-Jeghers syndrome and Cowden syndrome. All of these inherited cancer syndromes are associated with characteristic skin findings that offer a clue to their recognition and treatment. The discovery of mTOR inhibitors has led to a possible new therapeutic modality for patients with endocrine tumours as part of these familial syndromes.

  17. Gardner Syndrome

    Science.gov (United States)

    ... Home > Types of Cancer > Gardner Syndrome Request Permissions Gardner Syndrome Approved by the Cancer.Net Editorial Board , 06/2014 What is Gardner syndrome? Gardner syndrome is a subtype of familial ...

  18. Blepharophimosis Mental Retardation Syndrome Say-Barber/Biesecker/Young-Simpson Type - New Findings With Neuroimaging

    NARCIS (Netherlands)

    K. Szakszon; E. Berényi; A. Jakab; B. Bessenyei; E. Balogh; T. Koebling; J. Szilvássy; A.C. Knegt; E. Olah

    2011-01-01

    We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) type. Main findings in her were marked developmental delay, blepharophimosis, ptosis, cleft palate, external auditory canal stenosis, small and malformed teeth, hypothyroidis

  19. Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II.

    Science.gov (United States)

    Kaissi, Ali Al; Kraschl, Raimund; Kaulfersch, Wilhelm; Grill, Franz; Ganger, Rudolf

    2015-09-01

    We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother's radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus associated with dysplastic distal phalanges.

  20. Physical and Psychological Health in Persons with Deafblindness that Is due to Usher Syndrome Type II

    Science.gov (United States)

    Wahlqvist, Moa; Moller, Claes; Moller, Kerstin; Danermark, Berth

    2013-01-01

    Introduction: The objectives of the study reported here were to describe the physical and psychological health of persons with Usher syndrome Type II (USH2) and to explore any differences in terms of gender. Methods: The participants were recruited from the Swedish Usher database. In the first step, 122 persons received the questionnaire by mail,…

  1. Do patients with type 2 diabetes mellitus have an increased prevalence of Cushing's syndrome?

    DEFF Research Database (Denmark)

    Krarup, Therese; Krarup, Thure; Hagen, Claus

    2012-01-01

    Many clinical features are common for patients with type 2 diabetes mellitus (T2DM) and Cushing's syndrome (CS) such as central obesity, hypertension and dyslipidaemia. Patients with CS often have T2DM. Because T2DM is much more frequent than CS, it is possible that some patients with T2DM have...... appearance and hypertension or truncal obesity or dyslipidaemia....

  2. Therapy-Resistant Complex Regional Pain Syndrome Type I : To Amputate or Not?

    NARCIS (Netherlands)

    Bodde, M.I.; Dijkstra, P.U.; den Dunnen, W.F.A.; Geertzen, J.H.B.

    2011-01-01

    Background: Amputation for the treatment of long-standing, therapy-resistant complex regional pain syndrome type I (CRPS-I) is controversial. An evidence-based decision regarding whether or not to amputate is not possible on the basis of current guidelines. The aim of the current study was to system

  3. Informed Decision-Making Regarding Amputation for Complex Regional Pain Syndrome Type I

    NARCIS (Netherlands)

    Bodde, Marlies I.; Dijkstra, Pieter U.; Schrier, Michiel; van den Dungen, Johannes; den Dunnen, Wilfred E.; Geertzen, Joannes

    2014-01-01

    Background: Literature on complex regional pain syndrome type I (CRPS-I) discussing the decision to amputate or not, the level of amputation, or the timing of the amputation is scarce: We evaluated informed decision-making regarding amputation for CRPS-I. Methods: We describe our findings in a retro

  4. Ventricular dysfunction in a family with long QT syndrome type 3

    NARCIS (Netherlands)

    Hummel, Yoran M.; Wilde, Arthur A. M.; Voors, Adriaan A.; Bugatti, Silvia; Hillege, Hans L.; van den Berg, Maarten P.

    2013-01-01

    Long QT syndrome (LQTS) type 3 is characterized by prolonged ventricular repolarization due to persistent sodium inward current secondary to a mutation in SCN5a, the gene encoding for the -subunit of the sodium channel. We speculated that by disrupting calcium homeostasis the persistent inward sodiu

  5. Travel-related Streptococcal toxic shock syndrome caused by emm type 78 Streptococcus pyogenes.

    Science.gov (United States)

    Tappe, Dennis; Schulze, Marco H; van der Linden, Mark; Ziegler, Uwe; Müller, Andreas; Stich, August

    2011-08-01

    Streptococcal toxic shock syndrome is a serious health problem in developed and developing countries. We here report a case of severe protracted disease after a minor skin infection in a young traveler returning from West Malaysia which was caused by an unusual emm-type strain harboring speG and smeZ superantigen genes.

  6. Glucose Transporter Type 1 Deficiency Syndrome with Carbohydrate-Responsive Symptoms but without Epilepsy

    Science.gov (United States)

    Koy, Anne; Assmann, Birgit; Klepper, Joerg; Mayatepek, Ertan

    2011-01-01

    Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by a defect in glucose transport across the blood-brain barrier. The main symptoms are epilepsy, developmental delay, movement disorders, and deceleration of head circumference. A ketogenic diet has been shown to be effective in controlling epilepsy in GLUT1-DS. We report a female…

  7. Stressful life events and psychological dysfunction in complex regional pain syndrome type I

    NARCIS (Netherlands)

    Geertzen, JHB; de Bruijn-Kofman, AT; de Bruijn, HP; van de Wiel, HBM; Dijkstra, PU

    1998-01-01

    Objective: To determine to what extent stressful life events and psychological dysfunction play a role in the pathogenesis of Complex Regional Pain Syndrome type I (CRPS). Design: A comparative study between a CRPS group and a control group. Stressful life events and psychological dysfunction evalua

  8. The impact of metabolic syndrome and CRP on vascular phenotype in type 2 diabetes mellitus

    NARCIS (Netherlands)

    Alizadeh Dehnavi, R.; Beishuizen, E.D.; Ree, M.A. van de; Le Cessie, S.; Huisman, M.V.; Kluft, C.; Princen, H.M.G.; Tamsma, J.T.

    2008-01-01

    Background: The burden of cardiovascular disease in diabetes mellitus type 2 (DM2) patients is variable. We hypothesize that metabolic syndrome (MS) and low-grade systemic inflammation modify the extent of atherosclerosis in DM2. Methods: Vascular phenotype was determined using the following endothe

  9. Quality of life in adults with childhood-onset of Complex Regional Pain Syndrome type I

    NARCIS (Netherlands)

    Tan, Edward C T H; van de Sandt-Renkema, Nienke; Krabbe, Paul F M; Aronson, Daniel C; Severijnen, René S V M

    2009-01-01

    INTRODUCTION: The clinical presentation of Complex Regional Pain Syndrome type I (CRPS I) in children differs compared to the presentation in adults. Reported results of treatment of CRPS I in children are usually more favourable and seem better than the reported treatment of adults with CRPS I. We

  10. Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.

    NARCIS (Netherlands)

    Zweers, M.C.; Dean, W.B.; Kuppevelt, A.H.M.S.M. van; Bristow, J.; Schalkwijk, J.

    2005-01-01

    Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders with characteristic skin and joint involvement. The concept that EDS is a disease of fibrillar collagen was challenged by the identification of a clinically distinct, recessive type of EDS caused by deficiency of th

  11. Informed Decision-Making Regarding Amputation for Complex Regional Pain Syndrome Type I

    NARCIS (Netherlands)

    Bodde, Marlies I.; Dijkstra, Pieter U.; Schrier, Michiel; van den Dungen, Johannes; den Dunnen, Wilfred E.; Geertzen, Joannes

    2014-01-01

    Background: Literature on complex regional pain syndrome type I (CRPS-I) discussing the decision to amputate or not, the level of amputation, or the timing of the amputation is scarce: We evaluated informed decision-making regarding amputation for CRPS-I. Methods: We describe our findings in a

  12. Fibroblast growth factor 21 predicts the metabolic syndrome and type 2 diabetes in Caucasians.

    Science.gov (United States)

    Bobbert, Thomas; Schwarz, Franziska; Fischer-Rosinsky, Antje; Pfeiffer, Andreas F H; Möhlig, Matthias; Mai, Knut; Spranger, Joachim

    2013-01-01

    The incidence of the metabolic syndrome and type 2 diabetes mellitus (T2DM) is rising worldwide. Liver-derived fibroblast growth factor (FGF)-21 affects glucose and lipid metabolism. The aim of this study was to analyze the predictive value of FGF-21 on the incidence of T2DM and the metabolic syndrome. The Metabolic Syndrome Berlin Potsdam (MeSyBePo) recall study includes 440 individuals. Glucose metabolism was analyzed using an oral glucose tolerance test, including insulin measurements. FGF-21 was measured using enzyme-linked immunosorbent assay. Primary study outcome was diabetes and the metabolic syndrome incidence and change of glucose subtraits. During a mean follow-up of 5.30 ± 0.1 years, 54 individuals developed the metabolic syndrome, 35 developed T2DM, and 69 with normal glucose tolerance at baseline progressed to impaired glucose metabolism, defined as impaired fasting glucose, impaired glucose tolerance, or T2DM. FGF-21 predicted incident metabolic syndrome (lnFGF-21 odds ratio [OR] 2.6 [95% CI 1.5 - 4.5]; P = 0.001), T2DM (2.4 [1.2-4.7]; P = 0.01), and progression to impaired glucose metabolism (2.2 [1.3 - 3.6]; P = 0.002) after adjustment for age, sex, BMI, and follow-up time. Additional adjustment for waist-to-hip ratio, systolic blood pressure, HDL cholesterol, triglycerides, and fasting glucose did not substantially modify the predictive value of FGF-21. FGF-21 is an independent predictor of the metabolic syndrome and T2DM in apparently healthy Caucasians. These results may indicate FGF-21 resistance precedes the onset of the metabolic syndrome and T2DM.

  13. Low doses of terlipressin and albumin in the type I hepatorenal syndrome

    Directory of Open Access Journals (Sweden)

    Davide Pulvirenti

    2013-05-01

    Full Text Available BACKGROUND Hepatorenal syndrome is a pre-renal like dysfunction that generally onsets in cirrhotic patients presenting ascites. MATERIALS AND METHODS We investigated the improvement of renal function in subjects with hepatorenal syndrome after terlipressin administration and the survival times after this treatment. 30 patients affected by cirrhosis, with diagnosis of type I hepatorenal syndrome were treated with intravenous terlipressin plus albumin (group A or with albumin alone (group B. Liver function, renal function, sodium plasma level and plasma renin activity were monitored. RESULTS Patients of group A showed a significant improvement (p < 0.001 of renal function valued by creatinine rate compared with the results obtained in group B. The probability of survival was higher in the group A (p < 0.0001. CONCLUSIONS Our results seem to confirm that the administration of terlipressin plus albumin improves renal function in patients with cirrhosis and type I hepatorenal syndrome and that a reversal of hepatorenal syndrome is strongly associated with an improved survival.

  14. Metabolic syndrome and the development of vascular disease and type 2 diabetes in high-risk patients

    NARCIS (Netherlands)

    Wassink, A.M.J.

    2009-01-01

    Abdominal obesity and its associated insulin resistance play a key role in the clustering of vascular risk factors, known as Metabolic Syndrome. Subjects with Metabolic Syndrome are at increased risk for the development of both type 2 diabetes and cardiovascular disease. Type 2 diabetes and

  15. Mirror therapy in patients with causalgia (complex regional pain syndrome type II) following peripheral nerve injury: Two cases

    NARCIS (Netherlands)

    R.W. Selles (Ruud); A.R. Schreuders (Ton); H.J. Stam (Henk)

    2008-01-01

    textabstractObjective: To describe the use of mirror therapy in 2 patients with complex regional pain syndrome type II following traumatic nerve injury. Design: Two case reports. Subjects: Two patients with complex regional pain syndrome type II. Methods: Two patients received mirror therapy with

  16. Mirror therapy in patients with causalgia (complex regional pain syndrome type II) following peripheral nerve injury: Two cases

    NARCIS (Netherlands)

    R.W. Selles (Ruud); A.R. Schreuders (Ton); H.J. Stam (Henk)

    2008-01-01

    textabstractObjective: To describe the use of mirror therapy in 2 patients with complex regional pain syndrome type II following traumatic nerve injury. Design: Two case reports. Subjects: Two patients with complex regional pain syndrome type II. Methods: Two patients received mirror therapy with th

  17. Metabolic syndrome and the development of vascular disease and type 2 diabetes in high-risk patients

    NARCIS (Netherlands)

    Wassink, A.M.J.

    2009-01-01

    Abdominal obesity and its associated insulin resistance play a key role in the clustering of vascular risk factors, known as Metabolic Syndrome. Subjects with Metabolic Syndrome are at increased risk for the development of both type 2 diabetes and cardiovascular disease. Type 2 diabetes and atherosc

  18. Canagliflozin improves risk factors of metabolic syndrome in patients with type 2 diabetes mellitus and metabolic syndrome

    Science.gov (United States)

    Davies, Michael J; Merton, Katherine W; Vijapurkar, Ujjwala; Balis, Dainius A; Desai, Mehul

    2017-01-01

    Objective Metabolic syndrome refers to a collection of risk factors associated with the development of cardiovascular disease and type 2 diabetes mellitus (T2DM). Canagliflozin, a sodium glucose co-transporter 2 inhibitor, improves glycemic control and reduces body weight and blood pressure (BP) in a broad range of patients with T2DM. This post hoc analysis assessed the effects of canagliflozin on the components of metabolic syndrome in patients with T2DM and metabolic syndrome. Methods This analysis was based on data from 2 head-to-head studies of canagliflozin in patients with T2DM on background metformin versus glimepiride (study 1) and background metformin plus sulfonylurea versus sitagliptin 100 mg (study 2). Changes from baseline in glycemic efficacy, anthropometric measures, BP, and lipids were evaluated with canagliflozin versus glimepiride and sitagliptin at week 52 in patients who met ≥2 of the criteria for metabolic syndrome (in addition to T2DM): triglycerides ≥1.7 mmol/L; high-density lipoprotein cholesterol (HDL-C) women); waist circumference ≥102 cm (non-Asian men), ≥88 cm (non-Asian women), >90 cm (Asian men), or >80 cm (Asian women); diagnosis of hypertension or meeting BP-related criteria (systolic BP ≥130 mmHg or diastolic BP ≥85 mmHg). Safety was assessed based on adverse event reports. Results In study 1, canagliflozin 100 and 300 mg provided similar and greater HbA1c reductions versus glimepiride, respectively. In study 2, canagliflozin 300 mg provided greater HbA1c lowering versus sitagliptin 100 mg. Canagliflozin also reduced fasting plasma glucose, body weight, body mass index, waist circumference, BP, and triglycerides, and increased HDL-C and low-density lipoprotein cholesterol versus glimepiride and sitagliptin. Canagliflozin was generally well tolerated in each study. Conclusion Canagliflozin was associated with improvements in all components of metabolic syndrome in patients with T2DM and metabolic syndrome, whereas

  19. Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review.

    Science.gov (United States)

    al-Hemidan, A I; al-Hazzaa, S A

    1995-03-01

    Richner-Hanhart syndrome (Tyrosinemia Type II) is an autosomal recessive disorder of amino acid metabolism characterized by ocular changes, painful palmoplantar hyperkeratosis, and mental retardation. Serum tyrosine increases due to tyrosine aminotransferase deficiency resulting in the deposition of tyrosine crystals in the cornea and in corneal inflammation. Patients are often misdiagnosed as having herpes simplex keratitis. We report on a child who presented with bilateral keratitis secondary to Tyrosinemia Type II diagnosed as herpes simplex keratitis.

  20. Impairments and activity limitations in subjects with chronic upper-limb complex regional pain syndrome type I.

    NARCIS (Netherlands)

    F.C. Schasfoort (Fabiënne); J.B.J. Bussmann (Hans); H.J. Stam (Henk)

    2004-01-01

    textabstractOBJECTIVE: To determine the degree of impairments and activity limitations and their interrelationship in complex regional pain syndrome type I (CRPS type I). DESIGN: Cross-sectional study interrelating impairments and objectively measured activity limitations. SETTING: Ambulatory and

  1. Exploration of Differences in Types of Sleep Disturbance and Severity of Sleep Problems between Individuals with Cri du Chat Syndrome, Down's Syndrome, and Jacobsen Syndrome: A Case Control Study

    Science.gov (United States)

    Maas, Anneke P. H. M.; Didden, Robert; Korzilius, Hubert; Curfs, Leopold M. G.

    2012-01-01

    The prevalence of sleep problems in individuals with intellectual disability (ID) seems to vary between genetic syndromes associated with ID. Different types of sleep disturbances may indicate underlying causes of sleep problems and these types of sleep disturbances may vary between different genetic syndromes. We examined and compared five types…

  2. Increased incidence of neonatal respiratory distress in infants with mucopolysaccharidosis type II (MPS II, Hunter syndrome).

    Science.gov (United States)

    Dodsworth, Charlotte; Burton, Barbara K

    2014-02-01

    Records were reviewed on all patients with mucopolysaccharidosis type II (Hunter syndrome) seen at a single institution from 1999 to 2013 to identify those with a history of neonatal intensive care. Eleven of 34 patients were in a neonatal intensive care unit and all had respiratory distress with 8 diagnoses of respiratory distress syndrome and 3 of transient tachypnea of the newborn. None of the infants were premature; four were delivered by cesarean section. These findings suggest that respiratory distress is more commonly observed in neonates with MPS II than in the general population. This may reflect airway disease already present in this disorder at the time of birth.

  3. Rare association of turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex

    Directory of Open Access Journals (Sweden)

    Suttur Malini

    2009-01-01

    Full Text Available We report a rare association of Turner syndrome with both Neurofibromatosis type I and Tuberous Sclerosis. The patient had XO karyotype with Turners stigmata and also had features of Neurofibromatosis 1 in the form of significant cafe-au-lait spots and Plexiform neurofibroma along with typical features of Tuberous Sclerosis complex. Pedigree analysis revealed that the elder brother of the proband in the family also suffered from Tuberous Sclerosis without the manifestation of Neurofibromatosis or any other genetic disorders. We hypothesize that these associations could be due to new independent mutations and also increased maternal and paternal age in a pre-disposition of Turner syndrome.

  4. Chronic type B aortic dissection in association with Hemolyticuremic syndrome in a child.

    Science.gov (United States)

    Gera, D N; Ghuge, P P; Gandhi, S; Vanikar, A V; Shrimali, J D; Kute, V B; Trivedi, H L

    2013-11-01

    Aortic dissection (AD) is a potentially life-threatening medical emergency usually encountered in the elderly. Here, we report a 9-year-old child who was incidentally detected to have asymptomatic chronic type B dissecting aneurysm of aorta when he presented with relapse of Hemolytic uremic syndrome (HUS) without any genetic abnormalities like Marfan or Ehler-Danlos syndrome. To the best of our knowledge, this is the first case of AD associated with HUS in a child without any known associated genetic or inherited risk factors.

  5. Risk factors for Type 2 Diabetes Mellitus : Metabolic Syndrome, Insulin Resistance and Primary Prevention

    OpenAIRE

    Hydrie, Muhammad Zafar Iqbal

    2012-01-01

    Aims: The purpose of the study was to identify the extent of metabolic syndrome on the basis of ATP III and IDF definition in subjects aged 25 years and above from an urban population of Karachi. Also to see the association of risk factors related to diabetes and metabolic syndrome in this population. And finally to prove the hypothesis of intervention effect on the onset of type 2 diabetes in a high risk urban population and evaluate the rate of conversion of IGT to diabetes by these interve...

  6. Coffee intake and risk of obesity, metabolic syndrome and type 2 diabetes: a Mendelian randomization study.

    Science.gov (United States)

    Nordestgaard, Ask Tybjærg; Thomsen, Mette; Nordestgaard, Børge Grønne

    2015-04-01

    Coffee is one of the most widely consumed beverages. We tested the hypothesis that genetically high coffee intake is associated with low risk of obesity, metabolic syndrome and type 2 diabetes, and with related components thereof. We included 93,179 individuals from two large general population cohorts in a Mendelian randomization study. We tested first whether high coffee intake is associated with low risk of obesity, metabolic syndrome and type 2 diabetes, and with related components thereof, in observational analyses; second, whether five genetic variants near the CYP1A1, CYP1A2 and AHR genes are associated with coffee intake; and third, whether the genetic variants are associated with obesity, metabolic syndrome and type 2 diabetes, and with related components thereof. Finally, we tested the genetic association with type 2 diabetes in a meta-analysis including up to 78,021 additional individuals from the DIAGRAM consortium. Observationally, high coffee intake was associated with low risk of obesity, metabolic syndrome and type 2 diabetes. Further, high coffee intake was associated with high body mass index, waist circumference, weight, height, systolic/diastolic blood pressure, triglycerides and total cholesterol and with low high-density lipoprotein cholesterol, but not with glucose levels. In genetic analyses, 9-10 vs 0-3 coffee-intake alleles were associated with 29% higher coffee intake. However, genetically derived high coffee intake was not associated convincingly with obesity, metabolic syndrome, type 2 diabetes, body mass index, waist circumference, weight, height, systolic/diastolic blood pressure, triglycerides, total cholesterol, high-density lipoprotein cholesterol or glucose levels. Per-allele meta-analysed odds ratios for type 2 diabetes were 1.01 (0.98-1.04) for AHR rs4410790, 0.98 (0.95-1.01) for AHR rs6968865, 1.01 (0.99-1.03) for CYP1A1/2 rs2470893, 1.01 (0.98-1.03) for CYP1A1/2 rs2472297 and 0.98 (0.95-1.01) for CYP1A1 rs2472299. High coffee

  7. Osteomyelitis in leukocyte adhesion deficiency type 1 syndrome

    DEFF Research Database (Denmark)

    Jabbari Azad, Farahzad; Ardalan, Maryam; H.Rafati, Ali;

    2010-01-01

    Leukocyte adhesion deficiency type 1 (LAD-1) is a rare, inherited immunodeficiency that affects one per million people yearly and usually presents with recurrent, indolent bacterial infections of the skin, mouth, and respiratory tract and impaired pus formation and wound healing. A 13-year-old gi......(10.60%). A plain radiography of the left leg revealed osteomyelitis. It is highly suggested that patients diagnosed mild to moderate LAD-1 with recurrent skin infection and simultaneous weak response to conventional therapy undergo (BMT) marrow transplant to prohibit subsequent life...

  8. Osteomyelitis in leukocyte adhesion deficiency type 1 syndrome

    DEFF Research Database (Denmark)

    Jabbari Azad, Farahzad; Ardalan, Maryam; H.Rafati, Ali

    2010-01-01

    Leukocyte adhesion deficiency type 1 (LAD-1) is a rare, inherited immunodeficiency that affects one per million people yearly and usually presents with recurrent, indolent bacterial infections of the skin, mouth, and respiratory tract and impaired pus formation and wound healing. A 13-year-old girl......(10.60%). A plain radiography of the left leg revealed osteomyelitis. It is highly suggested that patients diagnosed mild to moderate LAD-1 with recurrent skin infection and simultaneous weak response to conventional therapy undergo (BMT) marrow transplant to prohibit subsequent life...

  9. Guadalajara camptodactyly type III: a new probably autosomal dominant syndrome.

    Science.gov (United States)

    Figuera, L E; Ramírez-Dueñas, M L; Dávalos, I P; Cantú, J M

    2002-10-01

    A Mexican family is presented with the main clinical features of camptodactyly, a distinctive facial appearance because of ocular hypertelorism, telecanthus, symblepharon and spinal defects. Other clinical manifestations included: multiple nevi, simplified ears, retrognathia, congenital shortness of the sternocleidomastoid muscle, thin hands and feet, a small penis and mild mental retardation. Radiographic studies revealed spina bifida occulta at cervical and dorso-lumbar levels, increased bone trabeculae, cortical thickening and delayed bone age. The presence of five affected members through four generations suggests autosomal dominant inheritance although no male-to-male transmission was documented. The authors propose this as a new entity, and have designated it Guadalajara camptodactyly type III.

  10. Management of dyslipidemias in the presence of the metabolic syndrome or type 2 diabetes.

    Science.gov (United States)

    Matikainen, Niina; Taskinen, Marja-Riitta

    2012-12-01

    In the metabolic syndrome and type 2 diabetes, excess energy intake on the background of genetic predisposition and lifestyle factors leads to the dysregulation of fatty acid metabolism and acquired insulin resistance. These initial metabolic defects are reflected to both lipoprotein and glucose metabolism and contribute to increased risk for cardiovascular disease. However, even after controlling for the traditional cardiovascular risk factors, subjects with the metabolic syndrome and type 2 diabetes remain at high residual cardiovascular risk despite of low/normal LDL-cholesterol concentration. For 2 decades, statin therapy has been the cornerstone of treatment of dyslipidemia in these disorders. In the metabolic syndrome and type 2 diabetes, only statin treatment has demonstrated consistently a significant reduction in cardiovascular and all cause mortality in clinical trials. Lately, increased incidence of diabetes especially in the high-risk populations using statins has raised the debate whether statins are indicated for primary prevention especially in the metabolic syndrome. Guidelines recommend intensified lifestyle intervention to those in high risk groups on statin therapy to reduce the residual risk. Despite of the proven efficacy on plasma lipids, fibrate, or niacin as monotherapy, or in combination with statins has failed in reducing cardiovascular mortality. This underlies the fact that improvement in dyslipidemia or other biomarkers is not equal to the reduction in cardiovascular events. However, fibrates in combination with statins seem to be beneficial to reduce CVD events in subjects with low HDL-cholesterol ( 2.3 mmol/L), but the data are derived from subgroup analysis of clinical trials. The position of niacin and ezetimibe and omega-3 fatty acids in treatment of dyslipidemia in the metabolic syndrome and type 2 diabetes is even less clear and remains to be established in future clinical trials.

  11. A Case Report of Multiple Endocrine Neoplasia Type IIa Associated with Cushing Syndrome

    Directory of Open Access Journals (Sweden)

    Sh. Borzouei

    2013-10-01

    Full Text Available Introduction: Multiple endocrine neoplasia type IIa (MEN IIa is an autosomal dominant syn-drome characterized bypheochromocytoma ,medullary thyroid carcinoma and hyperparathy-roidism. Pheochromocytoma approximately occurs in 50% of patients with MEN IIa. This tumor has the capacity to produce ACTH ectopically and becomes manifest like Cushing syndrome,although it is very rare. Case Report: We report a 26-year-old woman patient with severe muscle weakness, skin le-sions in extremity, hypertension, new onset diabetes and in the laboratory data hypokalemia, metabolic alkalosis, high serum level of cortisol, metanephrine, normetanephrine, calcitonin and bilateral adrenal mass in computed tomography as the first clinical manifestations of an ACTH-secreting pheochromocytoma. Conclusion: In the patients with hypertension, new onset diabetes and hypokalemia Cushing syndrome and pheochromocytoma should always be ruled out. (Sci J Hamadan Univ Med Sci 2013; 20 (3:260-265

  12. Autoimmune hepatitis type 2 arising in PFAPA syndrome: coincidences or possible correlations?

    Science.gov (United States)

    Della Corte, Claudia; Ranucci, Giusy; Tufano, Maria; Alessio, Maria; Iorio, Raffaele

    2010-03-01

    PFAPA syndrome is a chronic disease classified in the group of autoinflammatory syndromes characterized by periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis in young children. The etiology of this disorder is still unknown, but a primary dysfunction of the innate immune system seems to be involved. According to Marshall criteria, it is not possible to diagnose PFAPA in the presence of autoimmune diseases. We present here the case report of an 8-month girl with PFAPA who developed autoimmune hepatitis type 2 at the age of 18 months. We suppose that the dysregulation in innate immunity that is typical of patients with PFAPA could trigger autoimmune disorders such as autoimmune hepatitis in susceptible subjects. The possible relationships between immune-system dysfunction peculiar to this syndrome and autoimmune hepatitis are discussed.

  13. Fenofibrate treatment in two adults with Crigler-Najjar syndrome type II.

    Science.gov (United States)

    Yilmaz, Serif; Dursun, Mehmet; Canoruç, Fikri; Kidir, Veysel; Beştaş, Remzi

    2006-03-01

    Crigler-Najjar syndrome type II is a rare familial disorder of bilirubin conjugation with consecutive life-long unconjugated hyperbilirubinemia. In the presence of severe hyperbilirubinemia, a fetus or an adult is at risk for neurological defects in this syndrome. This paper is the first report emphasizing details about this disorder in two patients from Turkey. The diagnosis was made on the basis of history and laboratory findings excluding other causes of unconjugated hyperbilirubinemia. Phenobarbital loading test and C bile analysis also supported the diagnosis. There was a study in the literature in which treatment with chlofibrate had been recommended in this syndrome. Based on the results of that study, we administered fenofibrate treatment to our patients for one month and analyzed serum bilirubin levels before and after this procedure. No improvement in bilirubin levels was observed in either case.

  14. Severe conjunctivochalasis in association with classic type Ehlers-Danlos syndrome

    Directory of Open Access Journals (Sweden)

    Whitaker John K

    2012-09-01

    Full Text Available Abstract Background Inferior conjunctivochalasis is common, but is rarely severe enough to require conjunctival excision. This report describes a patient with severe conjunctivochalasis who was subsequently diagnosed with Ehlers Danlos Syndrome, Classic Type. Case presentation A patient suffering from foreign body sensation, frequent blinking and bilateral inferior conjunctivochalasis was referred and treated by topical ocular lubrication. However, no improvement was observed prompting potential excision of conjunctivochalasis. Following patient consultation and clinical diagnosis including hypermobile joints and skin elasticity, poor wound healing and wide scar morphology, Ehlers-Danlos syndrome was confirmed in the patient. Conclusion This case highlights the need for direct patient questioning and provides the first reported association between conjunctiovochalasis and Ehlers-Danlos syndrome.

  15. Unusual phenotype of glucose transport protein type 1 deficiency syndrome: A case report and literature review

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    Annio Posar

    2014-01-01

    Full Text Available The glucose transport protein type 1 (GLUT1 deficit causes a chronic brain energy failure. The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity; and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches. During last years the classic phenotype of this syndrome, as originally reported, has expanded. We report the atypical phenotype of a boy with GLUT1 deficiency syndrome, characterized by mild mental retardation and drug-resistant absence seizures with onset at the age of 6 years, without movement disorders nor decrease of head circumference. A prompt diagnosis of this disorder is mandatory since the ketogenic diet might represent an effective treatment.

  16. The Role of Proprotein Convertase Subtilisin/Kexin Type 9 in Nephrotic Syndrome-Associated Hypercholesterolemia.

    Science.gov (United States)

    Haas, Mary E; Levenson, Amy E; Sun, Xiaowei; Liao, Wan-Hui; Rutkowski, Joseph M; de Ferranti, Sarah D; Schumacher, Valerie A; Scherer, Philipp E; Salant, David J; Biddinger, Sudha B

    2016-07-05

    In nephrotic syndrome, damage to the podocytes of the kidney produces severe hypercholesterolemia for which novel treatments are urgently needed. PCSK9 (proprotein convertase subtilisin/kexin type 9) has emerged as an important regulator of plasma cholesterol levels and therapeutic target. Here, we tested the role of PCSK9 in mediating the hypercholesterolemia of nephrotic syndrome. PCSK9 and plasma lipids were studied in nephrotic syndrome patients before and after remission of disease, mice with genetic ablation of the podocyte (Podocyte Apoptosis Through Targeted Activation of Caspase-8, Pod-ATTAC mice) and mice treated with nephrotoxic serum (NTS), which triggers immune-mediated podocyte damage. In addition, mice with hepatic deletion of Pcsk9 were treated with NTS to determine the contribution of PCSK9 to the dyslipidemia of nephrotic syndrome. Patients with nephrotic syndrome showed a decrease in plasma cholesterol and plasma PCSK9 on remission of their disease (Phypercholesterolemia and a 7- to 24-fold induction in plasma PCSK9. The induction of plasma PCSK9 appeared to be attributable to increased secretion of PCSK9 from the hepatocyte coupled with decreased clearance. Interestingly, knockout of Pcsk9ameliorated the effects of NTS on plasma lipids. Thus, in the presence of NTS, mice lacking hepatic Pcsk9 showed a 40% to 50% decrease in plasma cholesterol and triglycerides. Moreover, the ability of NTS treatment to increase the percentage of low-density lipoprotein-associated cholesterol (from 9% in vehicle-treated Flox mice to 47% after NTS treatment), was lost in mice with hepatic deletion of Pcsk9 (5% in both the presence and absence of NTS). Podocyte damage triggers marked inductions in plasma PCSK9, and knockout of Pcsk9 ameliorates dyslipidemia in a mouse model of nephrotic syndrome. These data suggest that PCSK9 inhibitors may be beneficial in patients with nephrotic syndrome-associated hypercholesterolemia. © 2016 American Heart Association, Inc.

  17. SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.

    Science.gov (United States)

    Gervasini, Cristina; Grati, Francesca Romana; Lalatta, Faustina; Tabano, Silvia; Gentilin, Barbara; Colapietro, Patrizia; De Toffol, Simona; Frontino, Giada; Motta, Francesca; Maitz, Silvia; Bernardini, Laura; Dallapiccola, Bruno; Fedele, Luigi; Larizza, Lidia; Miozzo, Monica

    2010-10-01

    The Mayer-Rokitansky-Küster-Hauser syndrome is defined as congenital aplasia of müllerian ducts derived structures in females with a normal female chromosomal and gonadal sex. Most cases with Mayer-Rokitansky-Küster-Hauser syndrome are sporadic, although familial cases have been reported. The genetic basis of Mayer-Rokitansky-Küster-Hauser syndrome is largely unknown and seems heterogeneous, and a small number of cases were found to have mutations in the WNT4 gene. The aim of this study was to identify possible recurrent submicroscopic imbalances in a cohort of familial and sporadic cases with Mayer-Rokitansky-Küster-Hauser syndrome. Multiplex ligation-dependent probe amplification was used to screen the subtelomeric sequences of all chromosomes in 30 patients with Mayer-Rokitansky-Küster-Hauser syndrome (sporadic, n = 27 and familial, n = 3). Segregation analysis and pyrosequencing were applied to validate the MLPA results in the informative family. Partial duplication of the Xpter pseudoautosomal region 1 containing the short stature homeobox (SHOX) gene was detected in five patients with Mayer-Rokitansky-Küster-Hauser syndrome (familial, n = 3 and sporadic, n = 2) and not in 53 healthy controls. The duplications were not overlapping, and SHOX was never entirely duplicated. Haplotyping in the informative family revealed that SHOX gene duplication was inherited from the unaffected father and was absent in two healthy sisters. Partial duplication of SHOX gene is found in some cases with both familial and sporadic Mayer-Rokitansky-Küster-Hauser type I syndrome.

  18. Inflammatory Cytokine Profile Associated with Metabolic Syndrome in Adult Patients with Type 1 Diabetes

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    Aldo Ferreira-Hermosillo

    2015-01-01

    Full Text Available Objective. To compare the serum concentration of IL-6, IL-10, TNF, IL-8, resistin, and adiponectin in type 1 diabetic patients with and without metabolic syndrome and to determine the cut-off point of the estimated glucose disposal rate that accurately differentiated these groups. Design. We conducted a cross-sectional evaluation of all patients in our type 1 diabetes clinic from January 2012 to January 2013. Patients were considered to have metabolic syndrome when they fulfilled the joint statement criteria and were evaluated for clinical, biochemical, and immunological features. Methods. We determined serum IL-6, IL-8, IL-10, and TNF with flow cytometry and adiponectin and resistin concentrations with enzyme linked immunosorbent assay in patients with and without metabolic syndrome. We also compared estimated glucose disposal rate between groups. Results. We tested 140 patients. Forty-four percent fulfilled the metabolic syndrome criteria (n=61, 54% had central obesity, 30% had hypertriglyceridemia, 29% had hypoalphalipoproteinemia, and 19% had hypertension. We observed that resistin concentrations were higher in patients with MS. Conclusion. We found a high prevalence of MS in Mexican patients with T1D. The increased level of resistin may be related to the increased fat mass and could be involved in the development of insulin resistance.

  19. Inflammatory Cytokine Profile Associated with Metabolic Syndrome in Adult Patients with Type 1 Diabetes

    Science.gov (United States)

    Ferreira-Hermosillo, Aldo; Molina-Ayala, Mario; Ramírez-Rentería, Claudia; Vargas, Guadalupe; Gonzalez, Baldomero; Isibasi, Armando; Archundia-Riveros, Irma; Mendoza, Victoria

    2015-01-01

    Objective. To compare the serum concentration of IL-6, IL-10, TNF, IL-8, resistin, and adiponectin in type 1 diabetic patients with and without metabolic syndrome and to determine the cut-off point of the estimated glucose disposal rate that accurately differentiated these groups. Design. We conducted a cross-sectional evaluation of all patients in our type 1 diabetes clinic from January 2012 to January 2013. Patients were considered to have metabolic syndrome when they fulfilled the joint statement criteria and were evaluated for clinical, biochemical, and immunological features. Methods. We determined serum IL-6, IL-8, IL-10, and TNF with flow cytometry and adiponectin and resistin concentrations with enzyme linked immunosorbent assay in patients with and without metabolic syndrome. We also compared estimated glucose disposal rate between groups. Results. We tested 140 patients. Forty-four percent fulfilled the metabolic syndrome criteria (n = 61), 54% had central obesity, 30% had hypertriglyceridemia, 29% had hypoalphalipoproteinemia, and 19% had hypertension. We observed that resistin concentrations were higher in patients with MS. Conclusion. We found a high prevalence of MS in Mexican patients with T1D. The increased level of resistin may be related to the increased fat mass and could be involved in the development of insulin resistance. PMID:26273680

  20. Recurrent hypoglycemia in a patient of neurofibromatosis type 1 and type 1 diabetes mellitus: Munchausen′s syndrome mimicking Insulinoma

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    Mubaraq Naqash

    2015-01-01

    Full Text Available A 35-year-old widow having neurofibromatosis type 1 (NF 1 and type 1 diabetes mellitus (DM was admitted for abdominal pain, vomiting and recent onset low blood sugars. During hospitalization, the patient developed recurrent episodes of hypoglycemia despite stopping insulin. A possibility of insulinoma was made due to the presence of abdominal pain, vomiting, hypoglycemia, and association of insulinoma with NF 1. However, surprisingly c-peptide was very low and plasma insulin levels were high. A detailed psychiatric evaluation of the patient revealed Munchausen′s syndrome as a cause of recurrent hypoglycemia. Unrecognized psychiatric illnesses in type 1 DM may lead to overzealous investigation. In conclusion, the clinical presentations of persons with factitious disorder are varied and impact every area of medicine, factitious causes should always be considered in unclarified recurrent hypoglycemia, especially in cases presented with dramatic but inconsistent medical history, and an unusual personal behavior.

  1. Burnout Syndrome Among Health Care Students: The Role of Type D Personality.

    Science.gov (United States)

    Skodova, Zuzana; Lajciakova, Petra; Banovcinova, Lubica

    2016-07-18

    The aim of this study was to examine the effect of Type D personality, along with other personality traits (resilience and sense of coherence), on burnout syndrome and its counterpart, engagement, among students of nursing, midwifery, and psychology. A cross-sectional study was conducted on 97 university students (91.9% females; M age = 20.2 ± 1.49 years). A Type D personality subscale, School Burnout Inventory, Utrecht Work Engagement Scale, Sense of Coherence Questionnaire, and Baruth Protective Factor Inventory were used. Linear regression models, Student's t test, and Pearson's correlation analysis were employed. Negative affectivity, a dimension of Type D personality, was a significant personality predictor for burnout syndrome (β = .54; 95% CI = [0.33, 1.01]). The only significant personality predictor of engagement was a sense of coherence. Students who were identified as having Type D personality characteristics scored significantly higher on the burnout syndrome questionnaire (t = -2.58, p burnout. © The Author(s) 2016.

  2. Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists.

    Science.gov (United States)

    Rombaut, Lies; Deane, Janet; Simmonds, Jane; De Wandele, Inge; De Paepe, Anne; Malfait, Fransiska; Calders, Patrick

    2015-03-01

    Physiotherapy plays a fundamental role in managing adults with the joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT). However, it is a challenge for both the patient and the physiotherapist as the condition is poorly understood and treatment for JHS/EDS-HT is currently undefined. Insight into current practice is, therefore, necessary in order to establish baseline knowledge in this area and in the long term to improve the standard of patient care. Therefore, the purpose of this study was to evaluate current physiotherapists' knowledge of JHS/EDS-HT and to gain insight into current physiotherapy practice with emphasis on assessment, management, and treatment efficacy. Three hundred twenty-five Flemish physiotherapists participated in the study by filling out electronically a modified version of the "Hypermobility and Hypermobility Syndrome Questionnaire" (HHQ), which covered theoretical constructs such as general knowledge, assessment, management, and learning in relation to generalized joint hypermobility and JHS/EDS-HT. The results show that physiotherapists report a low level of confidence with regard to assessment and management of JHS/EDS-HT. Knowledge of hypermobility and JHS/EDS-HT is weak, especially regarding the features associated with JHS/EDS-HT. Many treatment approaches are used by physiotherapists with the majority showing preference for education, reassurance, muscle strengthening, proprioceptive and core stability training. Almost all approaches were perceived as being clinically effective by the physiotherapists, highlighting a lack of consensus. In conclusion, this study in Flemish physiotherapists confirms that JHS/EDS-HT is under-recognized, not well known and deemed difficult to treat. Further education is required and sought by the physiotherapists surveyed, and future research is needed.

  3. Late Diagnosed Type II Autoimmune Polyglandular Failure Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Mehtap Evran

    2014-03-01

    Full Text Available Autoimmune polyglandular syndrome (APS type II is the term descibing a group of diseases with two or more concurrent endocrine disorders. It is more prevalent in female gender. The most common pathologies include primary adrenal insufficiency (Addison’s disease, autoimmune thyroid diseases (Graves’ disease, Hashimoto’s thyroiditis, type 1 diabetes mellitus (DM and primary hypogonadism. Replacement of deficient hormone is the basis of treatment. The present paper discussed autoimmune polyglandular syndrome based on the symptoms in a 25-year-old female patient who was followed in the intensive care unit because of impaired consciousness considered to have resulted from potential drug/substance addiction. Antidepressant therapy was recommended for the patient and she was diagnosed with APS on further evaluation. Turk Jem 2014; 1: 13-16

  4. Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

    Science.gov (United States)

    Eker, Hatice Koçak; Derinkuyu, Betül Emine; Ünal, Sevim; Masliah-Planchon, Julien; Drunat, Séverine; Verloes, Alain

    2014-01-01

    Baraitser-Winter syndrome (BRWS) is a rare condition affecting the development of the brain and the face. The most common characteristics are unusual facial appearance including hypertelorism and ptosis, ocular colobomas, hearing loss, impaired neuronal migration and intellectual disability. BRWS is caused by mutations in the ACTB and ACTG1 genes. Cerebro-fronto-facial syndrome (CFFS) is a clinically heterogeneous condition with distinct facial dysmorphism, and brain abnormalities. Three subtypes are identified. We report a female infant with striking facial features and brain anomalies (included polymicrogyria) that fit into the spectrum of the CFFS type 3 (CFFS3). She also had minor anomalies on her hands and feet, heart and kidney malformations, and recurrent infections. DNA investigations revealed c.586C>T mutation (p.Arg196Cys) in ACTB. This mutation places this patient in the spectrum of BRWS. The same mutation has been detected in a polymicrogyric patient reported previously in literature. We expand the malformation spectrum of BRWS/CFFS3, and present preliminary findings for phenotype-genotype correlation in this spectrum.

  5. Evaluation of Kinesiophobia and Its Correlations with Pain and Fatigue in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

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    Claudia Celletti

    2013-01-01

    Full Text Available Ehlers-Danlos syndrome hypermobility type a. k. a. joint hypermobility syndrome (JHS/EDS-HT is a hereditary musculoskeletal disorder associating generalized joint hypermobility with chronic pain. Anecdotal reports suggest a prominent role for kinesiophobia in disease manifestations, but no study has systematically addressed this point. Objective. To investigate the impact of kinesiophobia and its relationship with pain, fatigue, and quality of life in JHS/EDS-HT. Design. Cross-sectional study. Subjects/Patients. 42 patients (40 female and 2 male with JHS/EDS-HT diagnosis following standardized diagnostic criteria were selected. Methods. Disease features were analyzed by means of specific questionnaires and scales evaluating kinesiophobia, pain, fatigue, and quality of life. The relationships among variables were investigated using the Spearman bivariate analysis. Results. Kinesiophobia resulted predominantly in the patients’ sample. The values of kinesiophobia did not correlate with intensity of pain, quality of life, and (or the single component of fatigue. A strong correlation was discovered between kinesiophobia and general severity of fatigue. Conclusions. In JHS/EDS-HT, the onset of pain-avoiding strategies is related to the presence of pain but not to its intensity. The clear-cut correlation between kinesiophobia and severity of fatigue suggests a direct link between musculoskeletal pain and fatigue. In JHS/EDS-HT, the underlying mechanism is likely to be facilitated by primary disease characteristics, including hypotonia.

  6. Mucopolysaccharidoses type IV A (Morquio syndrome: A case series of three siblings

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    P Rekka

    2012-01-01

    Full Text Available Mucopolysaccharidoses (MPS are a family of inherited metabolic diseases that results from the deficiency of lysosomal enzymes involved in the degradation of the glycosaminoglycans (mucopolysaccharides. Despite the well-documented oral and dental findings of MPS type IV, there is not much literature documented about the incidence of this disorder among siblings in the same family. This report outlines the clinical and radiographic findings found in three siblings with Morquio syndrome.

  7. Vitamin D Deficiency is Associated with the Metabolic Syndrome in Subjects with Type 2 Diabetes

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    Bahareh Nikooyeh

    2014-09-01

    Conclusions: Our data showed that firstly higher vitamin D status is inversely associated with fasting glycemia, and secondly serum 25(OHD3 predicts MeS risk in the subjects with T2D. Demonstrating the association of hypovitaminosis D with disorders of glucose metabolism and higher risk for development of further complications, notably CVD, may lead to a new target for preventive efforts at the population level. Keywords: Vitamin D, Type 2 diabetes, Metabolic syndrome, Cardiovascular disease

  8. Drug discovery for type 2 diabetes mellitus and metabolic syndrome: ten novel biological targets

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    Ivan Nikolaevich Tyurenkov

    2015-03-01

    Full Text Available In this review we discuss ten promising biological targets of interest for treating type 2 diabetes mellitus, obesity and metabolic syndrome. Namely, we address current experimental and clinical data on several new compounds that affect SGLT2, 11b-HSD1, PTP1B, SCD1, Il-1β, fructose-1,6-bisphosphatase, glycogen phosphorylase, SIRT1, DGAT-1 and GPR119. The body of data shows potential of these substances to become effective antidiabetic agents.

  9. Syringomyelia in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): imaging findings following bone marrow transplantation

    Energy Technology Data Exchange (ETDEWEB)

    Hite, S.H. [Department of Radiology, Box 292, University of Minnesota Hospital and Clinic, 420 Delaware Street SE, Minneapolis, MN 55455 (United States); Krivit, W. [Department of Pediatrics and Institute for Human Genetics, University of Minnesota Hospital and Clinic, Minneapolis, MN (United States); Haines, S.J. [Department of Neurological Surgery, University of Minnesota Hospital and Clinic, Minneapolis, MN (United States); Whitley, C.B. [Department of Pediatrics and Institute for Human Genetics, University of Minnesota Hospital and Clinic, Minneapolis, MN (United States)

    1997-09-01

    We present the imaging findings in a patient with mucopolysaccharidosis (MPS) type VI (Maroteaux-Lamy syndrome) who developed holocord syringomyelia. This represents the only reported case of syrinx formation in a child with MPS VI. Clinical, neurologic and spinal magnetic resonance imaging findings are presented. The patient has maintained a stable clinical and neurologic course over the period following allogeneic bone marrow transplant. (orig.). With 3 figs.

  10. Multiple endocrine neoplasia type 2 (Sipple's syndrome): clinical and cytogenetic analysis of a kindred.

    OpenAIRE

    Zatterale, A.; Stabile, M; Nunziata, V; Di Giovanni, G.; Vecchione, R; Ventruto, V

    1984-01-01

    This report describes the clinical and cytogenetic analysis of a kindred with multiple endocrine neoplasia type 2 (MEN-2 or Sipple's syndrome) in two generations. Medullary thyroid carcinoma was present in five members either as a large or as an occult tumour. Phaeochromocytoma was demonstrated in one severely hypertensive relative and urine vanillylmandelic acid (VMA) was increased in one normotensive member. Serum parathormone (PTH) was normal in all but one normocalcaemic patient of this f...

  11. Choroidal Thickness Analysis in Patients with Usher Syndrome Type 2 Using EDI OCT.

    Science.gov (United States)

    Colombo, L; Sala, B; Montesano, G; Pierrottet, C; De Cillà, S; Maltese, P; Bertelli, M; Rossetti, L

    2015-01-01

    To portray Usher Syndrome type 2, analyzing choroidal thickness and comparing data reported in published literature on RP and healthy subjects. Methods. 20 eyes of 10 patients with clinical signs and genetic diagnosis of Usher Syndrome type 2. Each patient underwent a complete ophthalmologic examination including Best Corrected Visual Acuity (BCVA), intraocular pressure (IOP), axial length (AL), automated visual field (VF), and EDI OCT. Both retinal and choroidal measures were measured. Statistical analysis was performed to correlate choroidal thickness with age, BCVA, IOP, AL, VF, and RT. Comparison with data about healthy people and nonsyndromic RP patients was performed. Results. Mean subfoveal choroidal thickness (SFCT) was 248.21 ± 79.88 microns. SFCT was statistically significant correlated with age (correlation coefficient -0.7248179, p < 0.01). No statistically significant correlation was found between SFCT and BCVA, IOP, AL, VF, and RT. SFCT was reduced if compared to healthy subjects (p < 0.01). No difference was found when compared to choroidal thickness from nonsyndromic RP patients (p = 0.2138). Conclusions. Our study demonstrated in vivo choroidal thickness reduction in patients with Usher Syndrome type 2. These data are important for the comprehension of mechanisms of disease and for the evaluation of therapeutic approaches.

  12. Choroidal Thickness Analysis in Patients with Usher Syndrome Type 2 Using EDI OCT

    Directory of Open Access Journals (Sweden)

    L. Colombo

    2015-01-01

    Full Text Available To portray Usher Syndrome type 2, analyzing choroidal thickness and comparing data reported in published literature on RP and healthy subjects. Methods. 20 eyes of 10 patients with clinical signs and genetic diagnosis of Usher Syndrome type 2. Each patient underwent a complete ophthalmologic examination including Best Corrected Visual Acuity (BCVA, intraocular pressure (IOP, axial length (AL, automated visual field (VF, and EDI OCT. Both retinal and choroidal measures were measured. Statistical analysis was performed to correlate choroidal thickness with age, BCVA, IOP, AL, VF, and RT. Comparison with data about healthy people and nonsyndromic RP patients was performed. Results. Mean subfoveal choroidal thickness (SFCT was 248.21±79.88 microns. SFCT was statistically significant correlated with age (correlation coefficient −0.7248179, p<0.01. No statistically significant correlation was found between SFCT and BCVA, IOP, AL, VF, and RT. SFCT was reduced if compared to healthy subjects (p<0.01. No difference was found when compared to choroidal thickness from nonsyndromic RP patients (p=0.2138. Conclusions. Our study demonstrated in vivo choroidal thickness reduction in patients with Usher Syndrome type 2. These data are important for the comprehension of mechanisms of disease and for the evaluation of therapeutic approaches.

  13. Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2.

    Science.gov (United States)

    Castori, M; Morlino, S; Sana, M E; Paradisi, M; Tadini, G; Angioni, A; Malacarne, M; Grammatico, P; Iascone, M; Forzano, F

    2016-08-01

    Palmoplantar keratoderma-congenital alopecia (PPKCA) syndrome is a rare genodermatosis, with two clinically recognizable forms: dominant (Type 1) and recessive (Type 2). Reports of only 18 patients have been published to date, and the molecular basis of the condition is unknown. We describe two cases with PPKCA Type 2 (PPKCA2), comprising a novel patient, originally reported as an example of autosomal ichthyosis follicularis-atrichia-photophobia syndrome, and the 6-year follow-up of a previously published case. Extensive molecular studies of both patients excluded mutations in all the known genes associated with PPK and partially overlapping syndromes. The striking similarities between these two patients confirm PPKCA2 as a discrete genodermatosis, of which the main features are congenital and universal alopecia, diffuse keratosis pilaris, facial erythema, and a specific PPK with predominant involvement of the fingertips and borders of the hands and feet, with evolution of sclerodactyly, contractures and constrictions. Clinical follow-up of these patients has demonstrated progressive worsening of the hand involvement and attenuation of facial erythema.

  14. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

    NARCIS (Netherlands)

    Prattichizzo, C.; Macca, M.; Novelli, V.; Giorgio, G.; Barra, A.; Franco, B.; Abdulla, F.; Abramowicz, M.; Amy, S.; Schafer, I.; Bankier, A.; White, S.; Barcina, M.G.; Bartoshesky, L.E.; Jenny, K.; Beemer, F.A.; Benke, P.; Betz, R.C.; Bianchini, G.; Garavelli, L.; Bigoni, S.; Bird, L.; Chibuk, J.; Masser-Frye, D.; Brunetti, N.; Scarcella, A.; Brunner, H.G.; Burn, J.; Carmi, R.; Castellan, C.; Castelluccio, P.; Castle, B.; Chiong, M.A.; Cutiongco, E.M.; Collins, F.; Couchon, E.; Curry, A.; Pastore, M.; Curry, C.J.; Swenerton, A.; Treisman, T.; Dean, J.; Devriendt, K.; Matthijs, G.; Dunlap, J.W.; Shashi, V.; Elcioglu, N.; Farndon, P.; Ferrero, G.B.; Ferrier, R.; Foulds, N.; Friedman, J.; Gal, A.; Orth, U.; Gardner, M.; Gerola, O.; Gillessen-Kaesbach, G.; Giuliano, F.; Turc-Carel, C.; Godde, E.; Graber, V.; Graham, G.E.; Gurrieri, F.; Harbour, L.; Henderson, A.; Jones, E.; Heran, H.; Homfrey, T.; Taylor, R.; Iwarsson, E.; Jensen, P.S.; Jezela-Stanek, A.; Joss, S.; Taylor, G.; Keeling, S.l.; Klatt, R.; Teebi, A.; Klehr-Martinelli, M.; Kotzot, D.; Lees, M.; Loughlin, S.; Lhotta, K.; Macdonald, F.; Mari, F.; Renieri, A.; Marlin, S.; McGaughran, J.; McKenzie, F.; McLeod, D.R.; Megarbane, A.; Mota, C.R.; Mucke, J.; Tzschach, A.; Obersztyn, E.; Okhowat, R.; Shinzel, A.; Pfau, R.; Pober, B.; Raymond, F.L.

    2008-01-01

    Oral-facial-digital type I (OFDI) syndrome is a male-lethal X-linked dominant developmental disorder belonging to the heterogeneous group of oral-facial-digital syndromes (OFDS). OFDI is characterized by malformations of the face, oral cavity, and digits. Central nervous system (CNS) abnormalities a

  15. Absence of autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease in girls and women with Turner syndrome

    Directory of Open Access Journals (Sweden)

    Kämpe Olle

    2007-12-01

    Full Text Available Abstract Background A disturbance in the immune system has been described in Turner syndrome (45,X, with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45,X, thyroiditis being the most common. Other autoimmune diseases seen are inflammatory bowel disease, insulin dependent diabetes mellitus, Addison's disease, rheumatoid arthritis, myasthenia gravis, vitiligo, alopecia, pernicious anaemia and hypoparathyroidism, but the association to Turner syndrome is not definite. Besides the typical features of Turner syndrome (short stature, failure to enter puberty spontaneously and infertility due to ovarian insufficiency ear problems are common. Otitis media and a progressive sensorineural hearing disorder are commonly seen. In the normal population there are known inner ear disorders related to autoimmune diseases. The aim of this study was to investigate patients with Turner syndrome regarding autoantibodies connected to the autoimmune disorders; autoimmune polyendocrine syndrome type I and II and Addison's disease, to screen for overlapping profile of autoantibodies. Blood samples from 110 Turner patients (7–65 years were investigated using in vitro transcription, translation and immunoprecipitation techniques regarding autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease (21-hydroxylase, 17α-hydroxylase, side-chain cleavage enzyme, aromatic L-amino acid decarboxylase, tyrosine hydroxylase and tryptophan hydroxylase. Results The autoantibodies investigated were not overrepresented among the Turner patients. Conclusion The autoimmune disorders associated with Turner syndrome do not seem to be of the same origin as Addison's disease, the type I or II autoimmune polyendocrine syndrome.

  16. Absence of autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease in girls and women with Turner syndrome

    Science.gov (United States)

    Stenberg, Annika E; Sylvén, Lisskulla; Hedstrand, Håkan; Kämpe, Olle; Hultcrantz, Malou

    2007-01-01

    Background A disturbance in the immune system has been described in Turner syndrome (45,X), with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45,X), thyroiditis being the most common. Other autoimmune diseases seen are inflammatory bowel disease, insulin dependent diabetes mellitus, Addison's disease, rheumatoid arthritis, myasthenia gravis, vitiligo, alopecia, pernicious anaemia and hypoparathyroidism, but the association to Turner syndrome is not definite. Besides the typical features of Turner syndrome (short stature, failure to enter puberty spontaneously and infertility due to ovarian insufficiency) ear problems are common. Otitis media and a progressive sensorineural hearing disorder are commonly seen. In the normal population there are known inner ear disorders related to autoimmune diseases. The aim of this study was to investigate patients with Turner syndrome regarding autoantibodies connected to the autoimmune disorders; autoimmune polyendocrine syndrome type I and II and Addison's disease, to screen for overlapping profile of autoantibodies. Blood samples from 110 Turner patients (7–65 years) were investigated using in vitro transcription, translation and immunoprecipitation techniques regarding autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease (21-hydroxylase, 17α-hydroxylase, side-chain cleavage enzyme, aromatic L-amino acid decarboxylase, tyrosine hydroxylase and tryptophan hydroxylase). Results The autoantibodies investigated were not overrepresented among the Turner patients. Conclusion The autoimmune disorders associated with Turner syndrome do not seem to be of the same origin as Addison's disease, the type I or II autoimmune polyendocrine syndrome. PMID:18088406

  17. Timing and Type of Alcohol Consumption and the Metabolic Syndrome - ELSA-Brasil

    Science.gov (United States)

    Vieira, Bruna Angelo; Luft, Vivian Cristine; Schmidt, Maria Inês; Chambless, Lloyd Ellwood; Chor, Dora; Barreto, Sandhi Maria; Duncan, Bruce Bartholow

    2016-01-01

    The prevalence of the metabolic syndrome is rising worldwide. Its association with alcohol intake, a major lifestyle factor, is unclear, particularly with respect to the influence of drinking with as opposed to outside of meals. We investigated the associations of different aspects of alcohol consumption with the metabolic syndrome and its components. In cross-sectional analyses of 14,375 active or retired civil servants (aged 35–74 years) participating in the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil), we fitted logistic regression models to investigate interactions between the quantity of alcohol, the timing of its consumption with respect to meals, and the predominant beverage type in the association of alcohol consumption with the metabolic syndrome. In analyses adjusted for age, sex, educational level, income, socioeconomic status, ethnicity, smoking, body mass index, and physical activity, light consumption of alcoholic beverages with meals was inversely associated with the metabolic syndrome (≤4 drinks/week: OR = 0.85, 95%CI 0.74–0.97; 4 to 7 drinks/week: OR = 0.75, 95%CI 0.61–0.92), compared to abstention/occasional drinking. On the other hand, greater consumption of alcohol consumed outside of meals was significantly associated with the metabolic syndrome (7 to 14 drinks/week: OR = 1.32, 95%CI 1.11–1.57; ≥14 drinks/week: OR = 1.60, 95%CI 1.29–1.98). Drinking predominantly wine, which occurred mostly with meals, was significantly related to a lower syndrome prevalence; drinking predominantly beer, most notably when outside of meals and in larger quantity, was frequently associated with a greater prevalence. In conclusion, the alcohol—metabolic syndrome association differs markedly depending on the relationship of intake to meals. Beverage preference—wine or beer—appears to underlie at least part of this difference. Notably, most alcohol was consumed in metabolically unfavorable type and timing. If further investigations

  18. Timing and Type of Alcohol Consumption and the Metabolic Syndrome - ELSA-Brasil.

    Science.gov (United States)

    Vieira, Bruna Angelo; Luft, Vivian Cristine; Schmidt, Maria Inês; Chambless, Lloyd Ellwood; Chor, Dora; Barreto, Sandhi Maria; Duncan, Bruce Bartholow

    2016-01-01

    The prevalence of the metabolic syndrome is rising worldwide. Its association with alcohol intake, a major lifestyle factor, is unclear, particularly with respect to the influence of drinking with as opposed to outside of meals. We investigated the associations of different aspects of alcohol consumption with the metabolic syndrome and its components. In cross-sectional analyses of 14,375 active or retired civil servants (aged 35-74 years) participating in the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil), we fitted logistic regression models to investigate interactions between the quantity of alcohol, the timing of its consumption with respect to meals, and the predominant beverage type in the association of alcohol consumption with the metabolic syndrome. In analyses adjusted for age, sex, educational level, income, socioeconomic status, ethnicity, smoking, body mass index, and physical activity, light consumption of alcoholic beverages with meals was inversely associated with the metabolic syndrome (≤4 drinks/week: OR = 0.85, 95%CI 0.74-0.97; 4 to 7 drinks/week: OR = 0.75, 95%CI 0.61-0.92), compared to abstention/occasional drinking. On the other hand, greater consumption of alcohol consumed outside of meals was significantly associated with the metabolic syndrome (7 to 14 drinks/week: OR = 1.32, 95%CI 1.11-1.57; ≥14 drinks/week: OR = 1.60, 95%CI 1.29-1.98). Drinking predominantly wine, which occurred mostly with meals, was significantly related to a lower syndrome prevalence; drinking predominantly beer, most notably when outside of meals and in larger quantity, was frequently associated with a greater prevalence. In conclusion, the alcohol-metabolic syndrome association differs markedly depending on the relationship of intake to meals. Beverage preference-wine or beer-appears to underlie at least part of this difference. Notably, most alcohol was consumed in metabolically unfavorable type and timing. If further investigations extend these

  19. Effect of Liraglutide on Type B Insulin Resistance Syndrome and Insulin Allergy in Type 2 Diabetes: A Case Report.

    Science.gov (United States)

    Matsumoto, Yuko; Yamada, Hodaka; Funazaki, Shunsuke; Suzuki, Daisuke; Kakei, Masafumi; Hara, Kazuo

    2017-08-23

    The appearance of anti-insulin antibodies or an allergy to insulin occasionally causes clinical problems with glycemic control in insulin users. In the present report, we describe a therapeutic approach that was employed for a man with type 2 diabetes who had insulin allergy, anti-insulin antibodies, and anti-insulin receptor antibodies that developed during his insulin treatment. We started the patient on liraglutide, a glucagon-like peptide-1 receptor agonist, and attained glycemic control without incurring any side effects. Two years after liraglutide induction, his blood glucose was being maintained at a healthy level by liraglutide monotherapy. Liraglutide may be a therapeutic option for patients with insulin allergy, anti-insulin antibodies, and type B insulin resistance syndrome, as it represents an alternative strategy to insulin.

  20. Purkinje cell cytoplasmic antibody type 1 (anti-Yo) autoimmunity in a child with Down syndrome.

    Science.gov (United States)

    Philipps, Guillermo; Alisanski, Susan B; Pranzatelli, Michael; Clardy, Stacey L; Lennon, Vanda A; McKeon, Andrew

    2014-03-01

    Purkinje cell cytoplasmic antibody type 1 (PCA-1)-IgG (or anti-Yo) is characteristically detected in women with gynecological or breast adenocarcinoma. We describe 2 unique scenarios occurring in 1 patient: PCA-1 paraneoplastic autoimmunity in a child, and a paraneoplastic neurological disorder in the context of Down syndrome. A child with Down syndrome and a history of adrenocortical carcinoma resected at age 1 year presented at age 7 years with cerebellar ataxia of subacute onset. Paraneoplastic serological and cerebrospinal fluid evaluations revealed PCA-1. Serological and biochemical studies also supported a diagnosis of subclinical autoimmune hypothyroidism. Extensive serum, urine, and radiological testing did not reveal a new or recurrent neoplasm. Neurological improvements after standard immunotherapy were lacking. Solid organ neoplasms are uncommon among patients with Down syndrome, but organ-specific autoimmune diseases are common. In our patient, Down syndrome-related impaired T regulatory lymphocyte function (previously reported) may have resulted in both enhanced immunity against an undetected solid neoplasm and paraneoplastic neurological (PCA-1) autoimmunity.

  1. Síndrome de Waardenburg: aspectos oftalmológicos e critérios de diagnóstico: relatos de casos

    Directory of Open Access Journals (Sweden)

    Luciano Sólia Nasser

    2012-10-01

    Full Text Available OBJETIVO: Descrever as características clínicas e imaginológicas de duas famílias com a síndrome de Waardenburg, sendo uma do tipo I e outra do tipo II, enfatizando as manifestações oftalmológicas, bem como o padrão de herança genética. MÉTODO: Realizou-se um estudo clínico envolvendo as duas famílias afetadas pela síndrome de Waardenburg, sendo, através dos heredogramas, determinado o padrão de herança genética presente. Também foram realizadas análises oftalmológicas abordando a medida da acuidade visual, a presença de distopia cantorum (telecanto, a avaliação da coloração da íris e o mapeamento de retina, além de exames otológicos e dermatológicos. RESULTADOS: O heredograma da família afetada pela síndrome de Waardenburg tipo I revelou um modo autossômico dominante de transmissão. A condição estava presente em 85,71% dos pacientes. A distopia cantorum foi a alteração mais frequente, seguida pela mecha branca na pele da fronte, hipopigmentação da íris e da retina e surdez neurossensorial. A família com síndrome de Waardenburg tipo II apresentou 33,33% dos familiares com a alteração. Nenhum membro apresentou distopia cantorum e hipopigmentação de íris. Três pacientes apresentaram surdez neurossensorial (12,5%, associada ao topete branco e manchas acrômicas confluentes pelo corpo. CONCLUSÃO: O presente estudo mostra a importância do oftalmologista no auxílio do diagnóstico desta rara condição genética, uma vez que inclui alterações oftalmológicas como telecanto, hipopigmentação da íris e retina. A distopia cantorum é o principal critério diagnóstico para diferenciar o tipo I do II e deve ser feita por oftalmologista treinado. As famílias encontram-se em acompanhamento multiprofissional, tendo recebido orientações genéticas e os cuidados referentes à proteção ocular.

  2. Addison's disease in a patient with hypothyroidism: autoimmune polyglandular syndrome type 2.

    Science.gov (United States)

    Bain, Anna; Stewart, Munro; Mwamure, Peter; Nirmalaraj, Kingsley

    2015-08-03

    A 57-year-old Caucasian woman with known autoimmune hypothyroidism diagnosed in 2006 presented to hospital with flu-like symptoms and circulatory collapse. She reported weight loss and gradual increase in her skin pigmentation over a 1-year period. Aggressive fluid resuscitation was instituted. Hormonal tests showed primary adrenal insufficiency. Appropriate steroid replacement was started with rapid clinical response. Subsequent antibody tests confirmed the diagnosis of autoimmune polyglandular type 2 (Schmidt's) syndrome. The adrenal crisis had been precipitated by influenza virus type B infection. 2015 BMJ Publishing Group Ltd.

  3. The metabolic syndrome, type 2 diabetes, and cardiovascular disease: understanding the role of insulin resistance.

    Science.gov (United States)

    Kendall, David M; Harmel, Anne Peters

    2002-12-01

    The most common and clinically important complication in adults with diabetes is cardiovascular disease (CVD), which includes coronary heart disease, peripheral vascular disease, and stroke. Both type 2 diabetes and the insulin resistance syndrome are associated with a marked increase in the risk for CVD. The metabolic syndrome and the closely related insulin resistance syndrome have recently been recognized as important disorders, each being associated with an increase in CVD risk even in the absence of glucose intolerance. Given the significant public health burden of CVD, risk reduction has emerged as a significant clinical challenge for most practitioners. Diabetes and the insulin resistance syndrome are closely related disorders, with insulin resistance being more than a key pathogenic defect in type 2 diabetes. Even in the absence of glucose intolerance, these 2 disorders are both associated with a number of distinct pathologic findings, including hypertension, atherogenic dyslipidemia, a prothrombotic environment, and significant vascular and hemodynamic abnormalities that result from endothelial cell dysfunction. Insulin resistance is now recognized to be closely associated with the development of each of these risk factors. This article uses a case-based approach to discuss the unique features of insulin resistance and type 2 diabetes considered to be key contributors to CVD risk. A systematic approach to both evaluation and management is proposed, with priority given to therapies of demonstrated clinical benefit. Because of its critical and central role in the development of many CVD risk factors, targeted treatment of insulin resistance will also be discussed as such therapy may prove to be a critical component of care in years to come.

  4. Inflammation markers as mediators of vasculo-endothelial dysfunction and atherosclerosis in the metabolic syndrome and type 2 diabetes

    Institute of Scientific and Technical Information of China (English)

    Ali A. Rizvi

    2007-01-01

    @@ The prevalence of both type 2 diabetes and metabolic syndrome is increasing exponentially all over the world because of global changes in obesity, sedentary lifestyle, and the aging of the population.1

  5. THE SYNDROME OF AUTOSOMAL RECESSIVE PONTOCEREBELLAR HYPOPLASIA, MICROCEPHALY, AND EXTRAPYRAMIDAL DYSKINESIA (PONTOCEREBELLAR HYPOPLASIA TYPE-2) - COMPILED DATA FROM 10 PEDIGREES

    NARCIS (Netherlands)

    BARTH, PG; BLENNOW, G; LENARD, HG; BEGEER, JH; VANDERKLEY, JM; HANEFELD, F; PETERS, ACB; Valk, J.

    1995-01-01

    The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, severely impaired mental and motor development, and extrapyramidal dyskinesia is a distinct system degeneration, previously designated pontocerebellar hypoplasia type 2 (PCH-2). To further characterize its clinical and neu

  6. Natural course of visual field loss in patients with Type 2 Usher syndrome.

    Science.gov (United States)

    Fishman, Gerald A; Bozbeyoglu, Simge; Massof, Robert W; Kimberling, William

    2007-06-01

    To evaluate the natural course of visual field loss in patients with Type 2 Usher syndrome and different patterns of visual field loss. Fifty-eight patients with Type 2 Usher syndrome who had at least three visual field measurements during a period of at least 3 years were studied. Kinetic visual fields measured on a standard calibrated Goldmann perimeter with II4e and V4e targets were analyzed. The visual field areas in both eyes were determined by planimetry with the use of a digitalizing tablet and computer software and expressed in square inches. The data for each visual field area measurement were transformed to a natural log unit. Using a mixed model regression analysis, values for the half-life of field loss (time during which half of the remaining field area is lost) were estimated. Three different patterns of visual field loss were identified, and the half-life time for each pattern of loss was calculated. Of the 58 patients, 11 were classified as having pattern type I, 12 with pattern type II, and 14 with pattern type III. Of 21 patients whose visual field loss was so advanced that they could not be classified, 15 showed only a small residual central field (Group A) and 6 showed a residual central field with a peripheral island (Group B). The average half-life times varied between 3.85 and 7.37 for the II4e test target and 4.59 to 6.42 for the V4e target. There was no statistically significant difference in the half-life times between the various patterns of field loss or for the test targets. The average half-life times for visual field loss in patients with Usher syndrome Type 2 were statistically similar among those patients with different patterns of visual field loss. These findings will be useful for counseling patients with Type 2 Usher syndrome as to their prognosis for anticipated visual field loss.

  7. A Case of Acute Aortic Dissection Type B Associated with Cushing's Syndrome

    Science.gov (United States)

    Petramala, Luigi; Cotesta, Dario; Sapienza, Paolo; Zinnamosca, Laura; Moroni, Enrico; di Marzio, Luca; De Toma, Giorgio; Letizia, Claudio

    2009-01-01

    We report a case of a 63-year-old man, with a previous history of hypertension and glucose intolerance associated troncular obesity that was emergently admitted to our Institution for evaluation of a severe, constant posterior chest pain which radiated anteriorly and dyspnoea with a suspected diagnosis of acute aortic dissection. A CT scan of thorax and abdomen demonstrated a dissection starting just below left succlavian artery and extending downward to the left renal artery, involving the celiac tripod and superior mesenteric artery. The dissection was classified as Stanford B, De Bakey III. Moreover, CT scan of abdomen revealed incidentally a left adrenal tumor of 25 mm of diameter. An emergent prosthetic graft was placed just below the origin of the left succlavian artery up-to the diaphragmatic hiatus. Furthermore, a diagnostic evaluation of the mass revealed an increase of cortisol production, and a diagnosis of Cushing's syndrome was done and the patient underwent an adrenalectomy via laparotomic approach. We report an association of acute aortic dissection of acute aortic dissection type B associated to Cushing's syndrome. Keywords Cushing's syndrome; Adrenocortical adenoma; Aortic dissection type B PMID:22505966

  8. Mirror therapy in patients with causalgia (complex regional pain syndrome type II) following peripheral nerve injury: Two cases

    OpenAIRE

    Selles, Ruud; Schreuders, Ton; Stam, Henk

    2008-01-01

    textabstractObjective: To describe the use of mirror therapy in 2 patients with complex regional pain syndrome type II following traumatic nerve injury. Design: Two case reports. Subjects: Two patients with complex regional pain syndrome type II. Methods: Two patients received mirror therapy with the painful hand hidden behind the mirror while the non-painful hand was positioned so that, from the perspective of the patient, the reflection of this hand was "superimposed" on the painful hand. P...

  9. Dietary factors, metabolic syndrome and risks of breast cancer and type II diabetes in the E3N cohort

    OpenAIRE

    Fagherazzi, Guy

    2011-01-01

    Breast cancer and type II diabetes are two of the main chronic diseases in women and are suspected to share common risk factors. But their etiologies are still partially unknown, in particular concerning some dietary factors and some parameters of the metabolic syndrome. If evidence is convincing that themetabolic syndrome is associated with an increased type II diabetes risk, questions remain unanswered regarding cholesterol level, anthropometric factors and breast cancer risk. The French E3...

  10. Changing epidemiology of metabolic syndrome and type 2 diabetes in Chinese youth.

    Science.gov (United States)

    Fu, JunFen; Prasad, Heranmaye C

    2014-01-01

    China is gradually taking its place as one of the world's economic giants and concurrently learning to understand how to bear the burdens of diseases that are more common in the fully developed world, such as pediatric obesity, metabolic syndrome, and type 2 diabetes mellitus. The purpose of this review is to consolidate the available information regarding these and draw the focus toward their sequential progression and increasing prevalence in Chinese children. Studies were collected in both English and Chinese, and the data were reviewed on the basis of disease prevalence and risk factors that are known from scientific literature that has been published to date. The majority of studies with appropriate content for inclusion here have been conducted within the last 15 years and up to date information from recent local and international research has also been included. Several factors have been implicated for the rise in obesity, most notably, the progressing economic expansion and exposure of local Chinese populations to Western influences. With this, metabolic syndrome has become a growing concern, as it is a precursor to cardiovascular disease and type 2 diabetes, leading to the alarmingly rapid development of deleterious consequences in children. The International Diabetes Federation proposed a definition for metabolic syndrome in 2007 (MS-IDF2007) worldwide, but whether it is also suitable for the Chinese population remains uncertain, so we have created the Chinese definition of metabolic syndrome upon the IDF framework. This MS-CHN2012 definition is based on multicenter studies to simplify and standardize primary care screening methods and is the first of its kind in China. Juvenile type 2 diabetes is the most worrisome result of obesity and metabolic syndrome, and studies have shown that the prevalence has doubled within 5 years-surpassing the prevalence of juvenile type 1 diabetes. Because of the extremely low number of studies currently published on these

  11. Dietary carbohydrate restriction in type 2 diabetes mellitus and metabolic syndrome: time for a critical appraisal.

    Science.gov (United States)

    Accurso, Anthony; Bernstein, Richard K; Dahlqvist, Annika; Draznin, Boris; Feinman, Richard D; Fine, Eugene J; Gleed, Amy; Jacobs, David B; Larson, Gabriel; Lustig, Robert H; Manninen, Anssi H; McFarlane, Samy I; Morrison, Katharine; Nielsen, Jørgen Vesti; Ravnskov, Uffe; Roth, Karl S; Silvestre, Ricardo; Sowers, James R; Sundberg, Ralf; Volek, Jeff S; Westman, Eric C; Wood, Richard J; Wortman, Jay; Vernon, Mary C

    2008-04-08

    Current nutritional approaches to metabolic syndrome and type 2 diabetes generally rely on reductions in dietary fat. The success of such approaches has been limited and therapy more generally relies on pharmacology. The argument is made that a re-evaluation of the role of carbohydrate restriction, the historical and intuitive approach to the problem, may provide an alternative and possibly superior dietary strategy. The rationale is that carbohydrate restriction improves glycemic control and reduces insulin fluctuations which are primary targets. Experiments are summarized showing that carbohydrate-restricted diets are at least as effective for weight loss as low-fat diets and that substitution of fat for carbohydrate is generally beneficial for risk of cardiovascular disease. These beneficial effects of carbohydrate restriction do not require weight loss. Finally, the point is reiterated that carbohydrate restriction improves all of the features of metabolic syndrome.

  12. Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients

    Science.gov (United States)

    Lucas, Antoine; Piérard, Gérald E.; Hermanns-Lê, Trinh; De Paepe, Anne; Dupuy, Alain

    2013-01-01

    Ehlers-Danlos syndrome type VIII (EDS-VIII) is a very rare autosomal dominant disease characterized by early-onset periodontitis associated with features of Ehlers-Danlos syndrome. We report a 32-year-old man whose chronic leg ulcer led to the diagnosis of EDS-VIII. He had severe periodontitis with complete loss of permanent teeth and skin fragility with thin skin, atrophic scars, and brownish atrophic pretibial plaques. Leg ulcer is not a prominent feature of EDS-VIII. We suggest adding EDS-VIII to the list of rare diseases accounting for chronic leg ulcers, if this case report prompts others to report leg ulcers associated with EDS-VIII. PMID:24198978

  13. Dietary carbohydrate restriction in type 2 diabetes mellitus and metabolic syndrome: time for a critical appraisal

    Directory of Open Access Journals (Sweden)

    Roth Karl S

    2008-04-01

    Full Text Available Abstract Current nutritional approaches to metabolic syndrome and type 2 diabetes generally rely on reductions in dietary fat. The success of such approaches has been limited and therapy more generally relies on pharmacology. The argument is made that a re-evaluation of the role of carbohydrate restriction, the historical and intuitive approach to the problem, may provide an alternative and possibly superior dietary strategy. The rationale is that carbohydrate restriction improves glycemic control and reduces insulin fluctuations which are primary targets. Experiments are summarized showing that carbohydrate-restricted diets are at least as effective for weight loss as low-fat diets and that substitution of fat for carbohydrate is generally beneficial for risk of cardiovascular disease. These beneficial effects of carbohydrate restriction do not require weight loss. Finally, the point is reiterated that carbohydrate restriction improves all of the features of metabolic syndrome.

  14. Oral-facial-digital syndrome type 1: Report of a case

    Directory of Open Access Journals (Sweden)

    Peter W Duda

    2014-01-01

    Full Text Available Oral-facial-digital syndrome (OFD is a collective term describing thirteen distinctive, rare genetic disorders based on inheritance pattern and phenotypic expression. OFD is characterized by malformations of the oral cavity, the maxillofacial region and the arms and legs. Central nervous system anomalies, include intracerebral cysts, agenesis of the corpus callosum, hydrocephalus, cerebral/cerebellar atrophy, and berry aneurysms. Some degree of compromised intellectual ability and speech are present in affected individuals that correlate with the degree of central nervous system involvement. Furthermore, renal involvement in the form of polycystic kidney disease is evident in affected individuals in adulthood. In this article, we present a 37-year-old female patient that presented to the Rutgers School of Dental Medicine with oral-facial-digital syndrome, type 1.

  15. [Cardiorenal syndrome type 1 in the intensive coronary care unit of the Hospital Nacional Arzobispo Loayza].

    Science.gov (United States)

    Preza, Paul M; Hurtado, Abdías; Armas, Victoria; Cárcamo, César P

    2015-01-01

    This study sought to evaluate the incidence of cardiorenal syndrome (CRS) type 1 in a coronary care unit and its association with hospital mortality within 30 days of admission, as well as other epidemiological characteristics. The medical records of all the patients who were hospitalized with the diagnosis of acute heart failure in a 4-year period were reviewed. CRS type 1 was characterized by the presence of acute heart failure and an elevation of serum creatinine ≥0.3mg/dL in comparison to the baseline creatinine calculated by the MDRD75 equation and/or the elevation of ≥50% of the admission serum creatinine within a 48 h period. The incidence of CRS type 1 was 27.87%, 95% CI: 20.13-36.71 (34 of 122). There was a higher frequency of CRS type 1 in those patients who were admitted with the diagnosis of cardiogenic shock (adjusted RR 2.02, 95% CI: 1.20-3.93, p=0.0378) and in those with higher hemoglobin levels (p=0.0412). The CRS type 1 was associated with an increase of 30-day mortality (HR: 4.11, 95% CI: 1.20-14.09, p=0.0244). The incidence of CRS type 1 in the coronary care unit found in our study is similar to those found in foreign studies. The history of stroke and the higher values of hemoglobin were associated with a higher incidence of cardiorenal syndrome type 1. Patients with CRS type 1 had a higher hospital mortality within 30 days of admission. Copyright © 2014 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

  16. Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

    Science.gov (United States)

    Castori, Marco; Dordoni, Chiara; Morlino, Silvia; Sperduti, Isabella; Ritelli, Marco; Valiante, Michele; Chiarelli, Nicola; Zanca, Arianna; Celletti, Claudia; Venturini, Marina; Camerota, Filippo; Calzavara-Pinton, Piergiacomo; Grammatico, Paola; Colombi, Marina

    2015-03-01

    Cutaneous manifestations are a diagnostic criterion of Ehlers-Danlos syndrome, hypermobility type (EDS-HT) and joint hypermobility syndrome (JHS). These two conditions, originally considered different disorders, are now accepted as clinically indistinguishable and often segregate as a single-familial trait. EDS-HT and JHS are still exclusion diagnoses not supported by any specific laboratory test. Accuracy of clinical diagnosis is, therefore, crucial for appropriate patients' classification and management, but it is actually hampered by the low consistency of many applied criteria including the cutaneous one. We report on mucocutaneous findings in 277 patients with JHS/EDS-HT with both sexes and various ages. Sixteen objective and five anamnestic items were selected and ascertained in two specialized outpatient clinics. Feature rates were compared by sex and age by a series of statistical tools. Data were also used for a multivariate correspondence analysis with the attempt to identify non-causal associations of features depicting recognizable phenotypic clusters. Our findings identified a few differences between sexes and thus indicated an attenuated sexual dimorphism for mucocutaneous features in JHS/EDS-HT. Ten features showed significantly distinct rates at different ages and this evidence corroborated the concept of an evolving phenotype in JHS/EDS-HT also affecting the skin. Multivariate correspondence analysis identified three relatively discrete phenotypic profiles, which may represent the cutaneous counterparts of the three disease phases previously proposed for JHS/EDS-HT. These findings could be used for revising the cutaneous criterion in a future consensus for the clinical diagnosis of JHS/EDS-HT.

  17. Atherogenic dyslipidemia in metabolic syndrome and type 2 diabetes: therapeutic options beyond statins

    Directory of Open Access Journals (Sweden)

    Fisman Enrique Z

    2006-09-01

    Full Text Available Abstract Lowering of low-density lipoprotein cholesterol with 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors (statins is clearly efficacious in the treatment and prevention of coronary artery disease. However, despite increasing use of statins, a significant number of coronary events still occur and many of such events take place in patients presenting with type 2 diabetes and metabolic syndrome. More and more attention is being paid now to combined atherogenic dyslipidemia which typically presents in patients with type 2 diabetes and metabolic syndrome. This mixed dyslipidemia (or "lipid quartet": hypertriglyceridemia, low high-density lipoprotein cholesterol levels, a preponderance of small, dense low-density lipoprotein particles and an accumulation of cholesterol-rich remnant particles (e.g. high levels of apolipoprotein B – emerged as the greatest "competitor" of low-density lipoprotein-cholesterol among lipid risk factors for cardiovascular disease. Most recent extensions of the fibrates trials (BIP – Bezafibrate Infarction Prevention study, HHS – Helsinki Heart Study, VAHIT – Veterans Affairs High-density lipoprotein cholesterol Intervention Trial and FIELD – Fenofibrate Intervention and Event Lowering in Diabetes give further support to the hypothesis that patients with insulin-resistant syndromes such as diabetes and/or metabolic syndrome might be the ones to derive the most benefit from therapy with fibrates. However, different fibrates may have a somewhat different spectrum of effects. Other lipid-modifying strategies included using of niacin, ezetimibe, bile acid sequestrants and cholesteryl ester transfer protein inhibition. In addition, bezafibrate as pan-peroxisome proliferator activated receptor activator has clearly demonstrated beneficial pleiotropic effects related to glucose metabolism and insulin sensitivity. Because fibrates, niacin, ezetimibe and statins each regulate serum lipids by different

  18. Zollinger-Ellison syndrome associated with neurofibromatosis type 1: a case report

    Directory of Open Access Journals (Sweden)

    Choi Sung-Kyu

    2005-07-01

    Full Text Available Abstract Background Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder with characteristic features of skin and central nervous system involvement. Gastrointestinal involvement is rare, but the risk of malignancy development is considerable. Zollinger-Ellison syndrome is caused by gastrin-secreting tumors called gastrinomas. Correct diagnosis is often difficult, and curative treatment can only be achieved surgically. Case presentation A 41-year-old female affected by neurofibromatosis type 1 presented with a history of recurrent epigastric soreness, diarrhea, and relapsing chronic duodenal ulcer. Her serum fasting gastrin level was over 1000 pg/mL. An abdominal CT scan revealed a 3 × 2-cm, well-enhanced mass adjacent to the duodenal loop. She was not associated with multiple endocrine neoplasia type 1. Operative resection was performed and gastrinoma was diagnosed by immunohistochemical staining. The serum gastrin level decreased to 99.1 pg/mL after surgery, and symptoms and endoscopic findings completely resolved without recurrences. Conclusion Gastrinoma is difficult to detect even in the general population, and hence symptoms such as recurrent idiopathic peptic ulcer and diarrhea in neurofibromatosis type 1 patients should be accounted for as possibly contributing to Zollinger-Ellison syndrome.

  19. Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?

    Directory of Open Access Journals (Sweden)

    Claudia Celletti

    2017-01-01

    Full Text Available Background. Joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT, is a hereditary connective tissue disorder mainly characterized by generalized joint hypermobility, skin texture abnormalities, and visceral and vascular dysfunctions, also comprising symptoms of autonomic dysfunction. This study aims to further evaluate cardiovascular autonomic involvement in JHS/EDS-HT by a battery of functional tests. Methods. The response to cardiovascular reflex tests comprising deep breathing, Valsalva maneuver, 30/15 ratio, handgrip test, and head-up tilt test was studied in 35 JHS/EDS-HT adults. Heart rate and blood pressure variability was also investigated by spectral analysis in comparison to age and sex healthy matched group. Results. Valsalva ratio was normal in all patients, but 37.2% of them were not able to finish the test. At tilt, 48.6% patients showed postural orthostatic tachycardia, 31.4% orthostatic intolerance, 20% normal results. Only one patient had orthostatic hypotension. Spectral analysis showed significant higher baroreflex sensitivity values at rest compared to controls. Conclusions. This study confirms the abnormal cardiovascular autonomic profile in adults with JHS/EDS-HT and found the higher baroreflex sensitivity as a potential disease marker and clue for future research.

  20. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    National Research Council Canada - National Science Library

    Mohan Makwana; R. K. Vishnoi; Jai Prakash Soni; Kapil Jetha; Suresh Kumar Verma; Pradeep Singh Rathore; Monika Choudhary

    2017-01-01

    ...,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease...

  1. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

    Science.gov (United States)

    Colombi, Marina; Dordoni, Chiara; Chiarelli, Nicola; Ritelli, Marco

    2015-03-01

    Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS-HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS-HT is an "exclusion" diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes.

  2. Type D personality, self-efficacy, and medication adherence following an acute coronary syndrome.

    Science.gov (United States)

    Molloy, Gerard J; Randall, Gemma; Wikman, Anna; Perkins-Porras, Linda; Messerli-Bürgy, Nadine; Steptoe, Andrew

    2012-01-01

    To assess the relationship among Type D personality, self-efficacy, and medication adherence in patients with coronary heart disease. The study design was prospective and observational. Type D personality, self-efficacy for illness management behaviors, and medication adherence were measured 3 weeks after hospitalization for acute coronary syndrome in 165 patients (mean [standard deviation] age = 61.62 [10.61] years, 16% women). Self-reported medication adherence was measured 6 months later in 118 of these patients. Multiple linear regression and mediation analyses were used to address the study research questions. Using the original categorical classification, 30% of patients with acute coronary syndrome were classified as having Type D personality. Categorically defined patients with Type D personality had significantly poorer medication adherence at 6 months (r = -0.29, p social inhibition (r = -0.19, p = .04), the components of Type D personality, were associated with medication adherence 6 months after discharge in bivariate analyses. There was no evidence for the interaction of NA and social inhibition, that is, Type D personality, in the prediction of medication adherence 6 months after discharge in multivariate analysis. The observed association between NA and medication adherence 6 months after discharge could be partly explained by indirect effects through self-efficacy in mediation analysis (coefficient = -0.012; 95% bias-corrected and accelerated confidence interval = -0.036 to -0.001). The present data suggest the primacy of NA over the Type D personality construct in predicting medication adherence. Lower levels of self-efficacy may be a mediator between higher levels of NA and poor adherence to medication in patients with coronary heart disease.

  3. Metabolic syndrome as a predictor of type 2 diabetes, and its clinical interpretations and usefulness.

    Science.gov (United States)

    Shin, Jeong-Ah; Lee, Jin-Hee; Lim, Sun-Young; Ha, Hee-Sung; Kwon, Hyuk-Sang; Park, Yong-Moon; Lee, Won-Chul; Kang, Moo-Il; Yim, Hyeon-Woo; Yoon, Kun-Ho; Son, Ho-Young

    2013-07-08

    Metabolic syndrome is defined as a cluster of glucose intolerance, hypertension, dyslipidemia and central obesity with insulin resistance as the source of pathogenesis. Although several different combinations of criteria have been used to define metabolic syndrome, a recently published consensus recommends the use of ethnic-specific criteria, including waist circumference as an indicator of central obesity, triglyceride and high-density lipoprotein (HDL) cholesterol as indicators of dyslipidemia, and blood pressure greater than 130/85 mmHg. The definition of dysglycemia, and whether central obesity and insulin resistance are essential components remain controversial. Regardless of the definition, the prevalence of metabolic syndrome is increasing in Western and Asian countries, particularly in developing areas undergoing rapid socioenvironmental changes. Numerous clinical trials have shown that metabolic syndrome is an important risk factor for cardiovascular disease (CVD), type 2 diabetes mellitus and all-cause mortality. Therefore, metabolic syndrome might be useful as a practical tool to predict these two major metabolic disorders. Comprehensive management of risk factors is very important to the improvement of personal and public health. However, recent studies have focused on the role metabolic syndrome plays as a risk factor for CVD; its importance in the prediction of incident diabetes is frequently overlooked. In the present review, we summarize the known evidence supporting metabolic syndrome as a predictor for type 2 diabetes mellitus and CVD. Additionally, we suggest how metabolic syndrome might be useful in clinical practice, especially for the prediction of diabetes.

  4. An unfortunate challenge: Ketogenic diet for the treatment of Lennox-Gastaut syndrome in tyrosinemia type 1.

    Science.gov (United States)

    De Lucia, Silvana; Pichard, Samia; Ilea, Adina; Greneche, Marie-Odile; François, Laurent; Delanoë, Catherine; Schiff, Manuel; Auvin, Stéphane

    2016-07-01

    The ketogenic diet is an evidence-based treatment for resistant epilepsy including Lennox-Gastaut syndrome. This diet is based on low carbohydrate-high fat intakes. Dietary treatment is also therapeutic for inborn errors of metabolism such as aminoacdiopathies. We report a child with both Lennox-Gastaut syndrome and tyrosinemia type 1. This epilepsy syndrome resulted form a porencephalic cyst secondary to brain abscesses that occurred during the management of malnutrition due to untreated tyrosinemia type 1. We used a ketogenic diet as treatment for Lennox-Gastaut syndrome taking into account dietary requirements for tyrosinemia type 1. The patient was transiently responder during a 6-month period. This report illustrates that ketogenic diet remains a therapeutic option even when additional dietary requirements are needed.

  5. Metabolic Syndrome

    Science.gov (United States)

    ... hypertension, hypertriglyceridemia, insulin resistance syndrome, low HDL cholesterol, Metabolic Syndrome, overweight, syndrome x, type 2 diabetes Family Health, Kids and Teens, Men, Women January 2005 Copyright © American Academy of Family PhysiciansThis ...

  6. Lixisenatide in Patients with Type 2 Diabetes and Acute Coronary Syndrome

    DEFF Research Database (Denmark)

    Pfeffer, Marc A; Claggett, Brian; Diaz, Rafael;

    2015-01-01

    outcomes in patients with type 2 diabetes who had had a recent acute coronary event. METHODS: We randomly assigned patients with type 2 diabetes who had had a myocardial infarction or who had been hospitalized for unstable angina within the previous 180 days to receive lixisenatide or placebo in addition...... was placebo. CONCLUSIONS: In patients with type 2 diabetes and a recent acute coronary syndrome, the addition of lixisenatide to usual care did not significantly alter the rate of major cardiovascular events or other serious adverse events. (Funded by Sanofi; ELIXA ClinicalTrials.gov number, NCT01147250.)....... to locally determined standards of care. The trial was designed with adequate statistical power to assess whether lixisenatide was noninferior as well as superior to placebo, as defined by an upper boundary of the 95% confidence interval for the hazard ratio of less than 1.3 and 1.0, respectively...

  7. Spontaneous Carotid-Cavernous Fistula in the Type IV Ehlers-Danlos Syndrome.

    Science.gov (United States)

    Kim, Jeong Gyun; Cho, Won-Sang; Kang, Hyun-Seung; Kim, Jeong Eun

    2014-02-01

    Ehlers-Danlos syndrome (EDS) is a rare inherited connective disease. Among several subgroups, type IV EDS is frequently associated with spontaneous catastrophic bleeding from a vascular fragility. We report on a case of carotid-cavernous fistula (CCF) in a patient with type IV EDS. A 46-year-old female presented with an ophthalmoplegia and chemosis in the right eye. Subsequently, seizure and cerebral infarction with micro-bleeds occurred. CCF was completely occluded with transvenous coil embolization without complications. Thereafter, the patient was completely recovered. Transvenous coil embolization can be a good treatment of choice for spontaneous CCF with type IV EDS. However, every caution should be kept during invasive procedure.

  8. Pregnancy and delivery in ehlers-danlos syndrome (hypermobility type): review of the literature.

    Science.gov (United States)

    Dutta, Indranil; Wilson, Helen; Oteri, Odiri

    2011-01-01

    Ehlers-Danlos syndrome (EDS) is a group of connective tissue disorders which are divided into various distinguishable phenotypes. The type of EDS determines the potential obstetric complications. Due to the spectrum of clinical manifestation and overlap between phenotypes, there are no standardised obstetric management guidelines. Existing literature illustrates different obstetric management in hypermobility type of EDS, including uneventful term vaginal deliveries as well as preterm cesarean section deliveries. This paper discusses obstetric management of a woman with EDS hypermobility type. Cesarean section was deemed the most appropriate delivery method in this patient due to the possible complications including risk of joint dislocation and pain morbidity. No obstetric complications were experienced, and good maternal and neonatal outcomes were achieved.

  9. Pregnancy and Delivery in Ehlers-Danlos Syndrome (Hypermobility Type: Review of the Literature

    Directory of Open Access Journals (Sweden)

    Indranil Dutta

    2011-01-01

    Full Text Available Ehlers-Danlos syndrome (EDS is a group of connective tissue disorders which are divided into various distinguishable phenotypes. The type of EDS determines the potential obstetric complications. Due to the spectrum of clinical manifestation and overlap between phenotypes, there are no standardised obstetric management guidelines. Existing literature illustrates different obstetric management in hypermobility type of EDS, including uneventful term vaginal deliveries as well as preterm cesarean section deliveries. This paper discusses obstetric management of a woman with EDS hypermobility type. Cesarean section was deemed the most appropriate delivery method in this patient due to the possible complications including risk of joint dislocation and pain morbidity. No obstetric complications were experienced, and good maternal and neonatal outcomes were achieved.

  10. Induced pluripotent stem cells as a model for telomeric abnormalities in ICF type I syndrome.

    Science.gov (United States)

    Sagie, Shira; Ellran, Erika; Katzir, Hagar; Shaked, Rony; Yehezkel, Shiran; Laevsky, Ilana; Ghanayim, Alaa; Geiger, Dan; Tzukerman, Maty; Selig, Sara

    2014-07-15

    Human telomeric regions are packaged as constitutive heterochromatin, characterized by extensive subtelomeric DNA methylation and specific histone modifications. ICF (immunodeficiency, centromeric instability, facial anomalies) type I patients carry mutations in DNA methyltransferase 3B (DNMT3B) that methylates de novo repetitive sequences during early embryonic development. ICF type I patient fibroblasts display hypomethylated subtelomeres, abnormally short telomeres and premature senescence. In order to study the molecular mechanism by which the failure to de novo methylate subtelomeres results in accelerated telomere shortening, we generated induced pluripotent stem cells (iPSCs) from 3 ICF type I patients. Telomeres were elongated in ICF-iPSCs during reprogramming, and the senescence phenotype was abolished despite sustained subtelomeric hypomethylation and high TERRA levels. Fibroblast-like cells (FLs) isolated from differentiated ICF-iPSCs maintained abnormally high TERRA levels, and telomeres in these cells shortened at an accelerated rate, leading to early senescence, thus recapitulating the telomeric phenotype of the parental fibroblasts. These findings demonstrate that the abnormal telomere phenotype associated with subtelomeric hypomethylation is overridden in cells expressing telomerase, therefore excluding telomerase inhibition by TERRA as a central mechanism responsible for telomere shortening in ICF syndrome. The data in the current study lend support to the use of ICF-iPSCs for modeling of phenotypic and molecular defects in ICF syndrome and for unraveling the mechanism whereby subtelomeric hypomethylation is linked to accelerated telomeric loss in this syndrome. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  11. Prevalence of polycystic ovary syndrome in women with type 2 diabetes in Kerman, Iran.

    Science.gov (United States)

    Mirzaei, Fatemeh; Kazemi, Nahid

    2008-09-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder characterized by chronic anovulation and hypergonadism that affects 5-10% of women of reproductive age. Patients with this syndrome are at high risk of developing type 2 diabetes mellitus in future. This study was carried out to determine the prevalence of PCOS in patients with type 2 diabetes mellitus. One hundred consecutive women under 45 years of age with type 2 diabetes treated with diet or hypoglycemic drugs, referring to Kerman Diabetic Center, Kerman, Iran, in 2005 were identified. Patients with galactorrhea or history of thyroid dysfunction were excluded from the study. Data were collected through questionnaire-based interviews and were then analyzed. Ninety two women, of which 18 (19.5%) had clinical symptoms of PCOS, enrolled in the study. The mean age of subjects was 38.8 +/- 5.9 years. We found no significant relation between PCOS and familial type 2 diabetes or gestational diabetes. The mean body mass index (BMI) was 28.19 +/- 4.44 kg/m(2) in patients with PCOS and 26.06 +/- 3.83 kg/m(2) in non-PCOS patients (p = 0.043). The prevalence of abdominal obesity was higher among PCOS patients than non-PCOS patients (38.9% vs. 14.8%, p = 0.011). In our study, abdominal obesity was more among type 2 diabetic women with PCOS. Therefore, central or abdominal obesity might be considered as an important risk factor for type 2 diabetes in women with PCOS.

  12. A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).

    Science.gov (United States)

    Ugrinov, Krastyu G; Freed, Stefan D; Thomas, Clayton L; Lee, Shaun W

    2015-01-01

    Mucopolysaccharidosis type IIIA (MPS-IIIA, Sanfilippo syndrome) is a Lysosomal Storage Disease caused by cellular deficiency of N-sulfoglucosamine sulfohydrolase (SGSH). Given the large heterogeneity of genetic mutations responsible for the disease, a comprehensive understanding of the mechanisms by which these mutations affect enzyme function is needed to guide effective therapies. We developed a multiparametric computational algorithm to assess how patient genetic mutations in SGSH affect overall enzyme biogenesis, stability, and function. 107 patient mutations for the SGSH gene were obtained from the Human Gene Mutation Database representing all of the clinical mutations documented for Sanfilippo syndrome. We assessed each mutation individually using ten distinct parameters to give a comprehensive predictive score of the stability and misfolding capacity of the SGSH enzyme resulting from each of these mutations. The predictive score generated by our multiparametric algorithm yielded a standardized quantitative assessment of the severity of a given SGSH genetic mutation toward overall enzyme activity. Application of our algorithm has identified SGSH mutations in which enzymatic malfunction of the gene product is specifically due to impairments in protein folding. These scores provide an assessment of the degree to which a particular mutation could be treated using approaches such as chaperone therapies. Our multiparametric protein biogenesis algorithm advances a key understanding in the overall biochemical mechanism underlying Sanfilippo syndrome. Importantly, the design of our multiparametric algorithm can be tailored to many other diseases of genetic heterogeneity for which protein misfolding phenotypes may constitute a major component of disease manifestation.

  13. Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.

    Science.gov (United States)

    Dieks, Jana-Katharina; Baumer, Alessandra; Wilichowski, Ekkehard; Rauch, Anita; Sigler, Matthias

    2014-09-01

    To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. In microcephalic osteodysplastic primordial dwarfism type II (MOPD II; disproportionate short statue, microcephaly, facial abnormalities), however, cerebral aneurysms and other vascular abnormalities are frequent complications. MOPD II is a genetic disorder caused by mutations in the pericentrin (PCNT) gene (21q22). We report on a patient who came to our attention as a 22-year-old with subarachnoid bleeding due to a ruptured cranial aneurysm. Until then, the patient was thought and published to have Dubowitz syndrome; previously, he was treated with coronary bypass surgery for extensive coronary angiopathy. Consecutive genetic testing revealed MOPD II. After clinical stabilization, the patient was discharged to a specialized rehabilitation center where he died due to re-rupture of a cranial aneurysm. In patients with short stature-especially when clinical features are accompanied by vascular complications-MOPD II should be considered as a differential diagnosis leading to consecutive genetic testing. After detection of mutations in the PCNT gene, a full vascular status including cerebral imaging and cardiac evaluation needs to be determined in order to analyze vascular abnormalities and initiate prophylactic treatment.

  14. Role of peroxisome proliferator-activated receptors gene polymorphisms in type 2 diabetes and metabolic syndrome.

    Science.gov (United States)

    Dong, Chen; Zhou, Hui; Shen, Chong; Yu, Lu-Gang; Ding, Yi; Zhang, Yong-Hong; Guo, Zhi-Rong

    2015-05-15

    Metabolic syndrome (MetS) and type 2 diabetes mellitus (T2DM) are the serious public health problems worldwide. Moreover, it is estimated that MetS patients have about five-fold greater risk of the T2DM development compared with people without the syndrome. Peroxisome proliferator-activated receptors are a subgroup of the nuclear hormone receptor superfamily of ligand-activated transcription factors which play an important role in the pathogenesis of MetS and T2DM. All three members of the peroxisome proliferator-activated receptor (PPAR) nuclear receptor subfamily, PPARα, PPARβ/δ and PPARγ are critical in regulating insulin sensitivity, adipogenesis, lipid metabolism, and blood pressure. Recently, more and more studies indicated that the gene polymorphism of PPARs, such as Leu(162)Val and Val(227)Ala of PPARα, +294T > C of PPARβ/δ, Pro(12)Ala and C1431T of PPARγ, are significantly associated with the onset and progressing of MetS and T2DM in different population worldwide. Furthermore, a large body of evidence demonstrated that the glucose metabolism and lipid metabolism were influenced by gene-gene interaction among PPARs genes. However, given the complexity pathogenesis of metabolic disease, it is unlikely that genetic variation of a single locus would provide an adequate explanation of inter-individual differences which results in diverse clinical syndromes. Thus, gene-gene interactions and gene-environment interactions associated with T2DM and MetS need future comprehensive studies.

  15. The alpha 3 chain of type IV collagen induces autoimmune Goodpasture syndrome.

    Science.gov (United States)

    Kalluri, R; Gattone, V H; Noelken, M E; Hudson, B G

    1994-06-21

    Human Goodpasture syndrome is a lethal form of autoimmune disease that is characterized by pulmonary hemorrhage and glomerulonephritis. The tissue injury is mediated by autoantibodies that bind to glomerular and alveolar basement membrane. The target autoantigen is alpha 3(IV) collagen, one of six genetically distinct chains that comprise type IV collagen, and the epitope is sublocalized to the noncollagenous domain (NC1) of the alpha 3 chain. The present study reports the unique capacity of alpha 3(IV)NC1 dimer from bovine kidney to aberrantly engage the immune system of rabbits to respond to self, mimicking the organ-specific form of the human disease, whereas the other chains of type IV collagen are nonpathogenic. However, alpha 3(IV)NC1 hexamer was nonpathogenic, suggesting the exposure of a pathogenic epitope upon dissociation of hexamer into dimers. Exposure of the pathogenic epitope by infection or organic solvents, events which are thought to precede Goodpasture syndrome, may be the principal factor in the etiology of the disease. The pathogenicity of alpha 3(IV) collagen brings full circle a decade of research that has identified four novel chains (alpha 3-alpha 6) of type IV collagen.

  16. Family history of type 2 diabetes and prevalence of metabolic syndrome in adult Asian Indians

    OpenAIRE

    Das, Mithun; Pal, Susil; Ghosh, Arnab

    2012-01-01

    Background: Our objective was to test the association between familial risk of type 2 diabetes mellitus (T2DM) and the prevalence of metabolic syndrome (MS) in adult Asian Indians. Materials and Methods: A total of 448 adult (>30 years) individuals (257 males and 191 females) participated in the study. Familial risk of T2DM was classified into three groups viz., 1=both parents affected; 2=parent and/or siblings affected and 3=none or no family history for T2DM. Anthropometric measures, blood ...

  17. Pulmonary Artery Embolotherapy in a Patient with Type I Hepatopulmonary Syndrome after Liver Transplantation

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Hae Won; Suh, Kyung Suk; Kim, Joo Hyun; Shin, Woo Young; Yi, Nam Joon; Jae, Hwan Jun; Chung, Jin Wook; Oh, So Won; Lee, Kuhn Uk [Konkuk University College of Medicine, Seoul (Korea, Republic of); Kang, Keon Wook [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    2010-08-15

    Although liver transplantation (LT) is the only effective treatment option for hepatopulmonary syndrome (HPS), the post-LT morbidity and mortality have been high for patients with severe HPS. We performed post-LT embolotherapy in a 10-year-old boy who had severe type I HPS preoperatively, but he failed to recover early from his hypoxemic symptoms after an LT. Multiple embolizations were then successfully performed on the major branches that formed the abnormal vascular structures. After the embolotherapy, the patient had symptomatic improvement and he was discharged without complications

  18. Lower grade chronic inflammation is associated with obstructive sleep apnea syndrome in type 2 diabetes mellitus

    Institute of Scientific and Technical Information of China (English)

    朱宏霞

    2014-01-01

    Objective To investigate whether the existence of obstructive sleep apnea syndrome(OSAS)in patients with type 2 diabetes(T2DM) is associated with low grade chronic inflammation.Methods Fifty-four patients hospitalized for poor glycemic control from 12/2008 to 12/2009 were divided into 2 groups,OSAS group(T2DM with OSAS,27 cases)and NOSAS group(T2DM without OSAS,27 cases).The control group consisted of 26people from a health check-up program without diabetes

  19. Mayer-Rokitansky-Kuster-Hauser syndrome type II: A rare case.

    Science.gov (United States)

    Pai, Anand; Shakir, Mohammad

    2013-01-01

    Mayer-Rokitansky-Kuster-Hauser (MRKH) is a malformation complex comprising absent vagina and absent or rudimentary uterus. MRKH syndrome may be attributed to an initial affection of the intermediate mesoderm consequently leading (by the end of the 4(th) week of fetal life) to an alteration of the blastema of the cervicothoracicsomites and the pronephricducts. These latter subsequently induce the differentiation of the mesonephric and then the Wolffian and Mullerian ducts. There are very sparse such cases reported. We present a case of type II MRKH or Mullerian renal cervical somite association (i.e., Mullerian duct aplasia, renal dysplasia, and cervical somite anomalies).

  20. Tyrosinemia type II in two cases previously reported as Richner-Hanhart syndrome.

    Science.gov (United States)

    Balato, N; Cusano, F; Lembo, G; Santoianni, P

    1986-01-01

    Two sibs with palmo-plantar keratosis and dendritic corneal opacities, previously described as suffering from Richner-Hanhart syndrome by other authors, about 25 years ago, showed increased plasma and urine tyrosine levels. Their neurological and mental features were within normal limits. A comprehensive review of the literature showed a total of 47 cases of fully documented tyrosinemia type II; 8 more patients also had the clinical features of the disease, but aminoacidemia had never been observed. The importance of early diagnosis is stressed, since a low tyrosine-phenylalanine diet dramatically improves the symptoms and may prevent mental retardation.

  1. Successful vaginal birth after caesarean section in patient with Ehler-Danlos syndrome type 2

    OpenAIRE

    2011-01-01

    We present the case of a 31-year-old woman with Ehler-Danlos syndrome (EDS) type 2. She had a previous caesarean section and went on to have an uncomplicated vaginal birth in her last pregnancy. To our knowledge, this is the first case of a successful vaginal birth after caesarean section in a patient with EDS. EDS is a multisystem disorder involving a genetic defect in collagen and connective-tissue synthesis and structure. It is a heterogeneous group of 11 different inherited disorders. Obs...

  2. Type 1 diabetes complicated with uncontrollable adult cyclic vomiting syndrome: a case report

    OpenAIRE

    Ogiso, Kazuma; Koriyama, Nobuyuki; Akao, Ayako; Otsuji, Mayumi; Goto, Takahiko; Fujisaki, Natsuko; Minobe, Machiko; Kinowaki, Mayumi; Matsuki, Shigeru

    2015-01-01

    We herein describe the case of a 29-year-old woman with type 1 diabetes from 10 years of age who developed adult cyclic vomiting syndrome. Beginning at 25 years of age, she was frequently hospitalized for stress-induced vomiting. Her vomiting episodes developed acutely and remitted after severe vomiting of more than 30 times a day for a few days. The vomiting periods were accompanied by leukocytosis with a predominance of neutrophils, high blood pressure and fever. In addition, it was noted t...

  3. Glucose transporter type 1 deficiency syndrome effectively treated with modified Atkins diet.

    Science.gov (United States)

    Haberlandt, Edda; Karall, Daniela; Jud, Veronika; Baumgartner, Sara Sigl; Zotter, Sibylle; Rostasy, Kevin; Baumann, Matthias; Scholl-Buergi, Sabine

    2014-04-01

    This is a report on the successful treatment of a 6-year-old girl with genetically proven glucose transporter type 1 deficiency syndrome (GLUT1-DS) with modified Atkins diet (MAD). GLUT1-DS is an inborn disorder of glucose transport across the blood-brain barrier, which leads to energy deficiency of the brain with a broad spectrum of neurological symptoms including therapy-resistant epilepsy. Usually classical ketogenic diet (KD) is the standard treatment for patients with GLUT1-DS. Treatment with MAD, a variant of KD, for an observation period of 17 months resulted in improvement of seizures, alertness, cognitive abilities, and electroencephalography in this patient.

  4. [Sjögren syndrome associated with renal tubular acidosis type I].

    Science.gov (United States)

    Górriz, L; Molino, R; Arjona, D; Estripeaut, D

    2000-01-01

    Primary Sjögren's Syndrome complicated with a renal tubular acidosis type 1 and hypocalcemic paralysis, as the principal clinical manifestation, is uncommon. Although the initial manifestations of the nephropathy are not well understood, it is believed that the invasion of mononuclear cells and the high level of circulating antibodies, play an important role in the pathogenesis of the disease. We present a patient with hypocalcemic paralysis as an initial manifestation of a latent Sjögren's disease. The glandular biopsy was normal, suggesting a mayor participation of an immunological humoral factor in the renal lesion.

  5. Long QTc Syndrome Type 2 Presenting in a Postpartum Patient on Medroxyprogesterone

    Directory of Open Access Journals (Sweden)

    John Kern

    2014-01-01

    Full Text Available Introduction. Congenital long QT syndrome type 2 (LQTS2 is a rare inherited cardiac abnormality resulting in increased risk of polymorphic ventricular tachycardia (PVT. Case Description. A 21-year-old postpartum female presented with syncopal episode after phone alarm. She was noted to have PVT on telemetry monitoring in the emergency department. EKG revealed QTc of 530. The patient’s only medication was medroxyprogesterone. She ultimately received a dual chamber pacemaker with ICD. Discussion. LQTS2 is associated with alarm sounds as a precipitating factor. Postpartum hormonal shifts as well as medroxyprogesterone have significant effect on native QTc duration.

  6. Oxidative Stress: Dual Pathway Induction in Cardiorenal Syndrome Type 1 Pathogenesis

    Directory of Open Access Journals (Sweden)

    Grazia Maria Virzì

    2015-01-01

    Full Text Available Cardiorenal Syndrome Type 1 (Type 1 is a specific condition which is characterized by a rapid worsening of cardiac function leading to acute kidney injury (AKI. Even though its pathophysiology is complex and not still completely understood, oxidative stress seems to play a pivotal role. In this study, we examined the putative role of oxidative stress in the pathogenesis of CRS Type 1. Twenty-three patients with acute heart failure (AHF were included in the study. Subsequently, 11 patients who developed AKI due to AHF were classified as CRS Type 1. Quantitative determinations for IL-6, myeloperoxidase (MPO, nitric oxide (NO, copper/zinc superoxide dismutase (Cu/ZnSOD, and endogenous peroxidase activity (EPA were performed. CRS Type 1 patients displayed significant augmentation in circulating ROS and RNS, as well as expression of IL-6. Quantitative analysis of all oxidative stress markers showed significantly lower oxidative stress levels in controls and AHF compared to CRS Type 1 patients (P<0.05. This pilot study demonstrates the significantly heightened presence of dual oxidative stress pathway induction in CRS Type 1 compared to AHF patients. Our findings indicate that oxidative stress is a potential therapeutic target, as it promotes inflammation by ROS/RNS-linked pathogenesis.

  7. Study on the Relationship between Insulin-Resistance and Syndrome Differentiation Typing in Hypertension Patients

    Institute of Scientific and Technical Information of China (English)

    刘惠文; 张铁忠; 李光伟; 姜亚云

    2001-01-01

    Objective:To find the relationship between insulin-resistance and Syndrome Differentiation type (SDT) in hypertensive patients.Methods: Two hundred and nine patients of early stage hypertention with no complications of heart, brain or kidney were selected and classified into 4 types according to SDT, the Liver-Fire exuberant type (A), the Phlegm-Dampness abundant type (B), the Yin-Deficiency and Yang-Excess type (C) and the Deficiency of both Yin and Yang type (D). Their insulin sensitivity was examined and compared with that of 40 healthy subjects.Results:(1) Compared with the healthy subjects, all hypertensive patients had apparent insulin resistance (P<0.05).If the insulin sensitivity of healthy subjects was defined as 1.00, that of patients of type A, B, C and D were 0.54, 0.58, 0.65 and 0.80 respectively. (2) The insulin sensitivity of patients in the 4 SDT groups were compared and no significant difference was found in comparison between group A, B and C, while significant difference was found when the other three groups were compared with group D (P<0.05), the insulin sensitivity of type D was close to that of the healthy subjects. (3) The fasting blood insulin of type D was obviously lower and the insulin sensitivity of type D was obviously higher than that of the other three types as a whole (P=0.0001). (4) Multivariate regression analysis demonstrated that insulin sensitivity was closely correlated with SDT (P=0.0001). Conclusion: Insulin resistance is one of the pathological basis for SDT in hypertension.

  8. A case with Trico-rhino-phalangeal syndrome type 1 case with a preliminary diagnosis of Juvenile rheumatoid arthritis

    Directory of Open Access Journals (Sweden)

    Ömer Cevit

    2011-12-01

    Full Text Available Thrico-rhino-falangeal syndrome is a rare disease characterized by a bulbous nose, sparse hairs, a long flat philtrum, and epiphyseal coning. We describe here in a 15 year old girl with Thrico-rhino-falangeal syndrome type 1 (TRPS I. Physical examination demonstrated bulbous nose, hair abnormalities, deformity of the phalanges and winged scapulae. Genetic study and radiologic findings confirmed the diagnosis. Thrico-rhino-falangeal syndrome is characterized by musculoskeletal deformities that at the first view may simulate juvenile idiopathic arthritis. These musculoskeletal deformities could imply the differential diagnosis with juvenile idiopathic arthritis. J Clin Exp Invest 2011; 2 (4: 441-442

  9. Importance of Laparoscopic Assessment of the Uterine Adnexa in a Mayer-Rokitansky-Kuster-Hauser Syndrome Type II Case.

    Science.gov (United States)

    Dragusin, Roxana; Tudorache, Ștefania; Surlin, V; Lichiardopol, Corina; Iliescu, D G

    2014-01-01

    In the case reported, diagnosed with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, the presence of normal ovaries proved to be challenging to confirm due to unusual high positioned (ectopic) ovaries. MRKH syndrome is a rare pathological condition characterized by a spectrum of the Mullerian duct abnormalities resulting in congenital aplasia of the uterus and of the upper part (2/3) of the vagina, developed during embryogenesis. At the same time, the mullerian development is interdependent with the Wolffian (mesonephric) duct and this explains the associated renal abnormalities (MRKH type II). Laparoscopic assessment was of great importance in defining the exact anatomic characteristics of MRKH syndrome.

  10. 11beta-hydroxysteroid dehydrogenase type 1 inhibitors for metabolic syndrome.

    Science.gov (United States)

    Schnackenberg, Christine G

    2008-03-01

    The metabolic syndrome is a constellation of interrelated metabolic risk factors that appear to promote the development of diabetes and cardiovascular disease. These risk factors include abdominal obesity, insulin resistance, hypertension and dyslipidemia. 11beta-Hydroxysteroid dehydrogenase (11beta-HSD) catalyzes the interconversion of glucocorticoids through the activity of two isozymes: type 1 (11beta-HSD1) and type 2 (11beta-HSD2). 11beta-HSD1 converts inactive glucocorticoid to the active form, whereas 11beta-HSD2 converts active glucocorticoid to the inactive form. It is well established that reduced 11beta-HSD2 activity causes hypertension and electrolyte abnormalities. More recently, the pathophysiological role of 11beta-HSD1 has been explored and studies suggest that increased 11beta-HSD1 activity within target tissues may promote insulin resistance, obesity, hypertension and dyslipidemia. This review will discuss the evidence that inhibition of 11beta-HSD1 may be therapeutic in the treatment of the metabolic syndrome.

  11. Complex regional pain syndrome type i. An analysis of 7 cases in children.

    Science.gov (United States)

    Pedemonte Stalla, V; Medici Olaso, C; Kanopa Almada, V; Gonzalez Rabelino, G

    2015-01-01

    Complex regional pain syndrome (CRPS) is characterised by the presence of pain accompanied by sensory, autonomic and motor symptoms, usually preceded by a lesion or immobilisation. The clinical course is disproportionate to the initial injury in intensity and in duration. Its distribution is regional, predominantly in limbs. It is classified as type I and type II according to the absence or presence of nerve injury. We present the cases of seven children, 6 girls and 1 boy, aged 7 to 15 years. Three had a history of previous trauma. In 5 cases, the symptoms were located in the lower limbs. Time to diagnosis was between 4 and 90 days. Three patients had clinical features of anxiety and depression. Imaging and immunological studies were performed to rule out differential diagnoses in all the children. Interdisciplinary treatment was performed with physiotherapy, psychotherapy, and gabapentin or pregabalin. All patients had a good clinical outcome, with no relapses in the follow-up period (between 4 and 30 months). CRPS is frequently unrecognised in children, leading to family anxiety and unnecessary para-clinical costs. Paediatricians and paediatric neurologists should be aware of this syndrome in order to avoid delay in diagnosis, unnecessary studies, and multiple visits to specialists, with a view to providing effective treatment. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

  12. Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).

    Science.gov (United States)

    Brands, Marion; Roelants, Jorine; de Krijger, Ronald; Bogers, Ad; Reuser, Arnold; van der Ploeg, Ans; Helbing, Wim

    2013-10-01

    Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is a rare lysosomal storage disorder in which the pathologic storage of glycosaminoglycans in various tissues can lead to severe symptoms, including cardiomyopathy. We report on a child with Maroteaux-Lamy syndrome whose cardiac condition deteriorated and eventually led to cardiac failure at the age of 7 years due to severe mitral regurgitation. She received a mitral valve replacement and tricuspid repair with successful outcome. Histologic examination of the mitral valve showed abundant "clear" cells in both the leaflets and chordae tendineae. In Hurler disease (MPS I), similar cells have been identified as activated valvular interstitial cells (VICs, a myofibroblast like cell type). Here we report that the "clear" cells are CD68 positive, a frequently used marker of macrophage lineage. The "clear" cells remained unstained with the more specific macrophage marker CD14 while persistent staining of other cells demonstrated macrophage infiltration. From these observations, we infer that macrophages are involved in mitral valve pathology in MPS VI.

  13. Study on the Association between Body Weight and Insulin Resistance in Essential Hypertension , X- syndromes and Type- 2 Diabetes

    Institute of Scientific and Technical Information of China (English)

    王爱玲; 徐岩; 陈森

    2004-01-01

    Objective To prove the hypothesis that there are associations between body weight and insulin resistance in essential hypertension, X- syndromes and type- 2 diabetes. Methods We examined the body mass index (BMI) and insulin sensitve index (ISI) among 70 hypertensives, 39 X - syndromes, 33 type - 2 diabetes and 46 controls. To observe the relations between the degrees of obesity and LSI in all study groups. Seventy patients with hypertension [70 hypertensives, 48 men and 22 women, mean age (69.3 + 6.7) years], 39X-syndromes [27 men and 12 women, mean age (66.4+6.2) years], 33 type- 2 diabetes [21 men and 12 women, mean age (68.7±7.3) years], and 46 healthy controls [36 men and 10 women, mean age (66.1 + 6.6) years]. During study period, no patients died. Results All patients of hypertensives, X - syndromes and type - 2 diabetes have insulin resistance, BMI in all patients was singnificantly higher than in controls. The levels of blood glucose and insulin were significantly higher in obese hypertensives (BMI≥25kg/m2 ) than in those (BMI<25kg/m2 ). LSI in obese subjects with hypertension and X - syndrome were significantly lower than in no - obesities. ISI was related to BMI. Conclusion There were insulin resistance in patients of hypertension and X - syndrome. Obesity was related to lower ISI. Obesity may be an important risk factor for insulin resistance of essential hypertension and X - syndrome. ISI and BMI may be simple and specific clinical predictor for hypertension and X - syndrome patients.

  14. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

    OpenAIRE

    MATTHIJS, G; Schollen, E.; van Schaftingen, E; Cassiman, J. J.; Jaeken, J.

    1998-01-01

    Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder characterized by defective glycosylation. Most patients show a deficiency of phosphomannomutase (PMM), the enzyme that converts mannose 6-phosphate to mannose 1-phosphate in the synthesis of GDP-mannose. The disease is linked to chromosome 16p13, and mutations have recently been identified in the PMM2 gene in CDG1 patients with a PMM deficiency (CDG1A). The availabili...

  15. Delusional disorder, somatic type: olfactory reference syndrome in a patient with delusional trimethylaminuria.

    Science.gov (United States)

    Ramos, Natalia; Wystrach, Carter; Bolton, Michael; Shaywitz, Jonathan; IsHak, Waguih William

    2013-06-01

    Delusions of foul body odors (often referred to as olfactory reference syndrome [ORS]) currently fall under the category of delusional disorder, somatic type (DDST), in the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV). We present the case of a 51-year-old man with no previous psychiatric history who presented with perceived foul odors that he delusionally attributed to trimethylaminuria (TMAU). TMAU is a rare metabolic disorder associated with foul body odors. The patient also experienced severe concurrent mood symptoms because of social isolation resulting from his delusion about his body odors. After considerable discussion of differential diagnoses, a diagnosis of DDST was ultimately made, given the patient's unrelenting nonbizarre delusions and lack of insight pertaining to his body odors. However, this case proved to be very useful in exploring the diagnostic challenges in this type of disorder and recent discussions of ORS and its proposed inclusion in the DSM-5.

  16. Cardiorenal Syndrome Type 5 in Sepsis: Role of Endotoxin in Cell Death Pathways and Inflammation

    Directory of Open Access Journals (Sweden)

    Grazia Maria Virzì

    2016-12-01

    Full Text Available Background/Aims: Cardiorenal Syndrome Type 5 (CRS Type 5 is characterized by concomitant cardiac and renal dysfunction in the setting of different systemic disorders, such as sepsis. In this study, we investigated the possible relationship between endotoxin levels, renal cell death and inflammation in septic patients with CRS Type 5. Methods: We enrolled 11 patients with CRS Type 5. CRS Type 5 was defined according to the current classification system. AKI was defined by Acute Kidney Injury Network (AKIN criteria. Acute cardiac dysfunction was documented by echocardiography as acute left and/or right ventricular dysfunction leading to decreased ejection fraction. Endotoxin activity was measured by the Endotoxin Activity Assay (EAA. Plasma from CRS Type 5 patients was incubated with renal tubular cells (RTCs and cell death levels were evaluated. Plasma cytokines levels were measured as well. Results: Accordingly to EAA levels, patients were divided into two groups: 45.4% of patients had low endotoxin activity level (negative EAA, while 54.5% of patients showed high endotoxin activity (positive EAA. RTCs incubated with plasma from EAA positive patients showed significantly higher apoptosis levels and higher caspase-3 activation compared to cells incubated with plasma from EAA negative patients, and a significant positive correlation was observed between EAA levels and RTC apoptosis levels. Furthermore, IL-6 and IFN-γ levels were significantly higher in CRS Type 5 patients with positive EAA. Conclusion: Our data suggest a possible relationship between endotoxin levels and renal cell death in septic patients with CRS Type 5. Furthermore, this study highlights the presence of renal apoptosis, the immune deregulation and the strong inflammation in CRS Type 5 patients, especially in those with high endotoxin activity.

  17. Myopathic EMG findings and type II muscle fiber atrophy in patients with Lambert-Eaton myasthenic syndrome

    DEFF Research Database (Denmark)

    Crone, Clarissa; Christiansen, Ingelise; Vissing, John

    2013-01-01

    Lambert-Eaton myasthenic syndrome (LEMS) is a rare condition, which may mimic myopathy. A few reports have described that EMG in LEMS may show changes compatible with myopathy, and muscle biopsies have been described with type II as well as type I atrophy. The EMG results were, however, based...

  18. Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?

    Directory of Open Access Journals (Sweden)

    Melis Daniela

    2012-11-01

    Full Text Available Abstract Ehlers Danlos syndrome (EDS athrocalasia type (type VII, is characterized by joint hypermobility, skin hyperextensibility and tissue fragility. No heart involvement has been reported. Two forms have been described: type VII A and VII B. The abnormally processed collagen α2(I and the skipping of the exon 6 in COL1A2 gene are typically detected in EDS type VII B. We describe a seven-year old female, with a phenotype consistent with EDS type VII B and a diagnosis further confirmed by biochemical and molecular analyses. Cardiac ultrasound showed normal data in the first year of life. When she was 5 years old, the patient developed mitral valve regurgitation, and aortic and tricuspidal insufficiency at 7 years of age. To our knowledge, this is the first report of cardiac valvular involvement in EDS VII B. This feature probably has been underreported for the limited follow-up of the patients. Echocardiography might be warranted in the clinical assessment of EDS VII patients.

  19. Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients

    Directory of Open Access Journals (Sweden)

    Calzavara-Pinton Pier

    2009-11-01

    Full Text Available Abstract Background Loeys-Dietz syndrome (LDS is a rare autosomal dominant disorder showing the involvement of cutaneous, cardiovascular, craniofacial, and skeletal systems. In particular, LDS patients show arterial tortuosity with widespread vascular aneurysm and dissection, and have a high risk of aortic dissection or rupture at an early age and at aortic diameters that ordinarily are not predictive of these events. Recently, LDS has been subdivided in LDS type I (LDSI and type II (LDSII on the basis of the presence or the absence of cranio-facial involvement, respectively. Furthermore, LDSII patients display at least two of the major signs of vascular Ehlers-Danlos syndrome. LDS is caused by mutations in the transforming growth factor (TGF beta-receptor I (TGFBR1 and II (TGFBR2 genes. The aim of this study was the clinical and molecular characterization of two LDS patients. Methods The exons and intronic flanking regions of TGFBR1 and TGFBR2 genes were amplified and sequence analysis was performed. Results Patient 1 was a boy showing dysmorphic signs, blue sclerae, high-arched palate, bifid uvula; skeletal system involvement, joint hypermobility, velvety and translucent skin, aortic root dilatation, tortuosity and elongation of the carotid arteries. These signs are consistent with an LDSI phenotype. The sequencing analysis disclosed the novel TGFBR1 p.Asp351Gly de novo mutation falling in the kinase domain of the receptor. Patient 2 was an adult woman showing ascending aorta aneurysm, with vascular complications following surgery intervention. Velvety and translucent skin, venous varicosities and wrist dislocation were present. These signs are consistent with an LDSII phenotype. In this patient and in her daughter, TGFBR2 genotyping disclosed in the kinase domain of the protein the novel p.Ile510Ser missense mutation. Conclusion We report two novel mutations in the TGFBR1 and TGFBR2 genes in two patients affected with LDS and showing marked

  20. Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.

    Science.gov (United States)

    Piane, Maria; Della Monica, Matteo; Piatelli, Gianluca; Lulli, Patrizia; Lonardo, Fortunato; Chessa, Luciana; Scarano, Gioacchino

    2009-11-01

    We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel syndrome. At age 3 years, he became paralyzed due to a cerebrovascular malformation. Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome. Western blot analysis of the patient's lymphoblastoid cell line lysate showed the absence of the protein pericentrin. Subsequent molecular analysis identified a novel homozygous single base insertion (c.1527_1528insA) in exon 10 of the PCNT gene, which leads to a frameshift (Treo510fs) and to premature protein truncation. PCNT mutations must be considered diagnostic of MOPD II syndrome. A possible role of pericentrin in the development of cerebral vessels is suggested. Copyright 2009 Wiley-Liss, Inc.

  1. Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding.

    Science.gov (United States)

    Mizuno, Kazunori; Boudko, Sergei; Engel, Jürgen; Bächinger, Hans Peter

    2013-06-28

    Vascular Ehlers-Danlos syndrome (EDS) type IV is the most severe form of EDS. In many cases the disease is caused by a point mutation of Gly in type III collagen. A slower folding of the collagen helix is a potential cause for over-modifications. However, little is known about the rate of folding of type III collagen in patients with EDS. To understand the molecular mechanism of the effect of mutations, a system was developed for bacterial production of homotrimeric model polypeptides. The C-terminal quarter, 252 residues, of the natural human type III collagen was attached to (GPP)7 with the type XIX collagen trimerization domain (NC2). The natural collagen domain forms a triple helical structure without 4-hydroxylation of proline at a low temperature. At 33 °C, the natural collagenous part is denatured, but the C-terminal (GPP)7-NC2 remains intact. Switching to a low temperature triggers the folding of the type III collagen domain in a zipper-like fashion that resembles the natural process. We used this system for the two known EDS mutations (Gly-to-Val) in the middle at Gly-910 and at the C terminus at Gly-1018. In addition, wild-type and Gly-to-Ala mutants were made. The mutations significantly slow down the overall rate of triple helix formation. The effect of the Gly-to-Val mutation is much more severe compared with Gly-to-Ala. This is the first report on the folding of collagen with EDS mutations, which demonstrates local delays in the triple helix propagation around the mutated residue.

  2. Autoimmune polyglandular syndrome type 2 manifested as Hashimoto's thyroiditis and adrenocortical insufficiency, in Turner syndrome woman, with onset following introduction of treatment with recombinant human growth hormone.

    Science.gov (United States)

    Cyniak-Magierska, Anna; Lasoń, Agnieszka; Smyczyńska, Joanna; Lewiński, Andrzej

    2015-01-01

    Autoimmune polyglandular syndrome is a constellation of signs and symptoms of simultaneous insufficiencies of several endocrine glands. Autoimmune polyglandular syndrome type 2 (APS 2) may be diagnosed when the adrenocortical insufficiency is associated with an autoimmune thyroid disease (Hashimoto's thyroiditis or Graves' disease), and/or insulin-dependent diabetes mellitus. Turner syndrome is the most common chromosomal disorder in females, caused by complete or partial X chromosome monosomy. We present the case of a 20-year-old woman with Turner syndrome, in whom APS 2 (Hashimoto's thyroiditis and adrenocortical insufficiency) has been diagnosed after introduction of recombinant human growth hormone (rhGH) therapy. In Turner syndrome, examination of the patient must regularly be conducted in order to diagnose a possible onset of autoimmune diseases; respective treatment must be applied as soon as the diagnosis is established. In particular, therapy of rhGH, used for short stature treatment, may be a trigger factor of adrenal insufficiency. The cortisol level in blood should be assessed before rhGH administration and carefully monitored during the therapy, especially in case of autoimmune thyroid disease coexistence.

  3. Genetic and immunologic aspects of autoimmune poliendocrine syndrome type I: review

    Directory of Open Access Journals (Sweden)

    Alice Rachel Bandeira de Araújo

    2016-10-01

    Full Text Available The autoimmune polyendocrinopathy syndrome type 1 (APS-1, also known as candidiasis ectodermal-autoimmune polyendocrinopathy-dystrophy (APECED, it is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE. Therefore, it is immunologically characterized by cell attack and / or antibodymediated generating the destruction of target organs. Furthermore, it is characterized by the pathognomonic triad chronic candidiasis, hypoparathyroidism and Addison's disease with many other endocrine and non-endocrine events. Soon, the diagnosis is made based on the presence of two of the three classic features and treatment aims to control the numerous deficiencies that patients may present. This literature review was aimed at understanding the involvement of AIRE gene in relation to immunological aspects present and, consequently, clinical manifestations of this disease. Thus, evidence of the need to broaden the discussion about this disease, in order to improve the quality of life of patients by early diagnosis and treatment and are in accordance with the clinical manifestations of each patient. Thereby, qualitative research involved scientific articles from electronic journals LILACS (Latin American and Caribbean, SCIELO (Scientific Electronic Library Online and NCBI (National Center for Biotechnology Information, between the years 2009 and 2016. Pursuant to, there is the relevance of this review, it is noted that, although the authors converge on views on this syndrome, there are still many unclear matters with regard to the mechanisms of the disease. This highlights the need to promote more discussion on this topic.

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

    Science.gov (United States)

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

    2014-01-01

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

  5. Carbohydrate restriction as the default treatment for type 2 diabetes and metabolic syndrome.

    Science.gov (United States)

    Feinman, Richard D; Volek, Jeff S

    2008-08-01

    Dietary carbohydrate restriction in the treatment of diabetes and metabolic syndrome is based on an underlying principle of control of insulin secretion and the theory that insulin resistance is a response to chronic hyperglycemia and hyperinsulinemia. As such, the theory is intuitive and has substantial experimental support. It has generally been opposed by health agencies because of concern that carbohydrate will be replaced by fat, particularly saturated fat, thereby increasing the risk of cardiovascular disease as dictated by the so-called diet-heart hypothesis. Here we summarize recent data showing that, in fact, substitution of fat for carbohydrate generally improves cardiovascular risk factors. Removing the barrier of concern about dietary fat makes carbohydrate restriction a reasonable, if not the preferred method for treating type 2 diabetes and metabolic syndrome. We emphasize the ability of low carbohydrate diets to improve glycemic control, hemoglobin A1C and to reduce medication. We review evidence that such diets are effective even in the absence of weight loss.

  6. Prevalence and clinical profile of metabolic syndrome among type 1 diabetes mellitus patients in southern India.

    Science.gov (United States)

    Billow, Amy; Anjana, Ranjit Mohan; Ngai, Michelle; Amutha, Anandakumar; Pradeepa, Rajendra; Jebarani, Saravanan; Unnikrishnan, Ranjit; Michael, Edwin; Mohan, Viswanathan

    2015-07-01

    To assess the prevalence of metabolic syndrome (MetS) among patients with type 1 diabetes mellitus(T1DM) and to look at prevalence of diabetes complications in T1DM with and without MetS. We studied 451 T1DM patients attending a tertiary diabetes centre in Chennai, South India. T1DM was diagnosed based on absence of beta cell reserve and requirement of insulin from the time of diagnosis. Data on clinical and biochemical characteristics as well as complications details to study the prevalence were also extracted from electronic records. T1DM patients were divided into those with and without MetS[diagnosed according to the harmonizing the metabolic syndrome criteria(IDF/NHLBI/AHA/WHF/IAS/IASO)]. The overall prevalence of MetS among T1DM was 22.2%(100/451). Patients with MetS were older, had longer diabetes duration, acanthosis nigricans, and increased serum cholesterol. In the unadjusted logistic regression analysis, retinopathy, nephropathy and neuropathy were associated with MetS. However after adjustment for age, gender, diabetes duration, HbA1C and BMI significant association was seen only between MetS and retinopathy [odds ratio (OR) 2.82, 95% CI 1.18-6.74, p = 0.020] and nephropathy [OR 4.92, 95% CI 2.59-9.33, p reserved.

  7. The Metabolic Syndrome and Microvascular Complications in a Murine Model of Type 2 Diabetes.

    Science.gov (United States)

    Hur, Junguk; Dauch, Jacqueline R; Hinder, Lucy M; Hayes, John M; Backus, Carey; Pennathur, Subramaniam; Kretzler, Matthias; Brosius, Frank C; Feldman, Eva L

    2015-09-01

    To define the components of the metabolic syndrome that contribute to diabetic polyneuropathy (DPN) in type 2 diabetes mellitus (T2DM), we treated the BKS db/db mouse, an established murine model of T2DM and the metabolic syndrome, with the thiazolidinedione class drug pioglitazone. Pioglitazone treatment of BKS db/db mice produced a significant weight gain, restored glycemic control, and normalized measures of serum oxidative stress and triglycerides but had no effect on LDLs or total cholesterol. Moreover, although pioglitazone treatment normalized renal function, it had no effect on measures of large myelinated nerve fibers, specifically sural or sciatic nerve conduction velocities, but significantly improved measures of small unmyelinated nerve fiber architecture and function. Analyses of gene expression arrays of large myelinated sciatic nerves from pioglitazone-treated animals revealed an unanticipated increase in genes related to adipogenesis, adipokine signaling, and lipoprotein signaling, which likely contributed to the blunted therapeutic response. Similar analyses of dorsal root ganglion neurons revealed a salutary effect of pioglitazone on pathways related to defense and cytokine production. These data suggest differential susceptibility of small and large nerve fibers to specific metabolic impairments associated with T2DM and provide the basis for discussion of new treatment paradigms for individuals with T2DM and DPN.

  8. Role of peroxisome proliferator-activated receptors genepolymorphisms in type 2 diabetes and metabolic syndrome

    Institute of Scientific and Technical Information of China (English)

    2015-01-01

    Metabolic syndrome (MetS) and type 2 diabetesmellitus (T2DM) are the serious public healthproblems worldwide. Moreover, it is estimated thatMetS patients have about five-fold greater risk of theT2DM development compared with people without thesyndrome. Peroxisome proliferator-activated receptorsare a subgroup of the nuclear hormone receptorsuperfamily of ligand-activated transcription factorswhich play an important role in the pathogenesis ofMetS and T2DM. All three members of the peroxisomeproliferator-activated receptor (PPAR) nuclear receptorsubfamily, PPARα, PPARβ/δ and PPARγ are criticalin regulating insulin sensitivity, adipogenesis, lipidmetabolism, and blood pressure. Recently, more andmore studies indicated that the gene polymorphism ofPPARs, such as Leu162Val and Val227Ala of PPARα, +294T〉 C of PPARβ/δ, Pro12Ala and C1431T of PPARγ, aresignificantly associated with the onset and progressingof MetS and T2DM in different population worldwide.Furthermore, a large body of evidence demonstratedthat the glucose metabolism and lipid metabolism wereinfluenced by gene-gene interaction among PPARsgenes. However, given the complexity pathogenesis ofmetabolic disease, it is unlikely that genetic variation ofa single locus would provide an adequate explanationof inter-individual differences which results in diverseclinical syndromes. Thus, gene-gene interactions andgene-environment interactions associated with T2DMand MetS need future comprehensive studies.

  9. [Drug-induced exacerbation of hypoaldosteronism in autoimmune polyglandular syndrome type 2].

    Science.gov (United States)

    Krysiak, Robert; Okopień, Bogusław

    2012-01-01

    Hypoaldosteronism is a clinical condition resulting from inadequate stimulation of aIdosterone secretion (hyporeninemic hypoaIdosteronism), defects in adrenal synthesis of aldosterone (hyperreninemic hypoaldosteronism), or resistance to the peripheral action of this hormone (pseudohypoaldosteronism). The disease is characterized by a wide spectrum of clinical manifestations, ranging from asymptomatic hyperkalemia to life-threatening volume depletion, and, if unrecognized and untreated, it increases morbidity and mortality rates. In this paper, we report a case of a woman diagnosed with autoimmune polyglandular syndrome type 2. As a consequence of adrenal cortex destruction, the patient developed subclinical hypoaldosteronism which was effectively treated with small doses of fludrocortisone. Two and fours years later, she required ibuprofen and atenolol treatment and each of these treatments was accompanied by a transient deterioration in mineralocorticoid activity which resolved after drug withdrawal. This case shows for the first time that drugs reducing plasma renin activity may unmask subclinical hypoaldosteronism in subjects with autoimmune polyglandular syndromes, and that they should be avoided in patients with even small disturbances in the hormonal function of the zona glomerulosa.

  10. Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report.

    Science.gov (United States)

    Salvucci, Isadora Darriba Macedo; Finzi, Simone; Oyamada, Maria Kiyoko; Kim, Chong Ae; Pimentel, Sérgio Luis Gianotti

    2017-08-18

    We report a case of retinal and posterior ocular findings in a 33-year-old man diagnosed with Hunter syndrome (Mucopolysaccharidosis type II) in a multimodal imaging way. Our patient was complaining of blurred night vision for the past 3 years. He had not received any systemic treatment for Hunter syndrome. Vision acuity was 20/20 in both eyes and corneas were clear. Fundus examination revealed bilateral crowded and hyperemic optic nerve heads (elevated in the ocular ultrasound) and areas of subretinal hypopigmentation. There was hyperautofluorescence at the central fovea and perifovea, and a diffuse bilateral choroidal fluorescence in angiography. Macular SD-OCT showed a thinning of the external retina at the perifovea in both eyes. Visual field testing showed a bilateral ring scotoma. The full field ERG was subnormal, with a negative response in the scotopic phase. Visual Evoked Potencial test and cranial MRI were normal. Our multimodal analysis reported here attempted to contribute to the knowledge of the natural history of GAG deposition in the eye, focusing on the retina and retinal pigment epithelium. Defining this natural history is essential for a proper comparison with Hunter patients receiving systemic treatment, thus determining if it can or cannot improve retinal function in humans with this disorder.

  11. Anti glutamate-decarboxylase antibodies: a liaison between localisation related epilepsy, stiff-person syndrome and type-1 diabetes mellitus.

    Science.gov (United States)

    Szűcs, Anna; Barcs, Gábor; Winkler, Gábor; Soós, Zsuzsanna; Folyovich, András; Kelemen, Anna; Várallyay, Péter; Kamondi, Anita

    2014-07-30

    We present two patients with partial epilepsy, type-1 diabetes and stiff person syndrome associated with high serum auto-antibody levels to glutamate-decarboxylase (anti-GAD). Both patients were or have suffered from additional autoimmune conditions. The presence of stiff person syndrome and elevated anti-GAD levels have to make clinicians look for additional autoimmune conditions including type-1 diabetes. On the other hand, the co-morbidity of partial epilepsy with autoimmune conditions in patients with elevated serum anti-GAD suggests an autoimmune mechanism of partial epilepsy in these cases.

  12. The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I – a case report

    Science.gov (United States)

    Ghoneima, Ahmed; Sachdeva, Kanwar; Hartsfield, James; Weaver, David; Kula, Katherine

    2016-01-01

    Trichorhinophalangeal syndrome type I is a rare autosomal dominant disorder characterized by cone-shaped epiphysis, sparse fine hair, pear-shaped nose and variable growth retardation. The typical craniofacial features include thin upper lip, elongated philtrum, large outstanding ears, shortened posterior facial height associated with short mandibular ramus and reduced and superiorly deflected posterior cranial base. This report describes a 17-year-old male patient with trichorhinophalangeal syndrome type I and a detailed description of the craniofacial radiographic findings, including the use of cone beam computed tomography images for determination of the airway and temporomandibular joint discrepancies. PMID:23524547

  13. [Autonomic dysfunction syndrome and diabetic cardiac autonomic neuropathy in children with diabetes mellitus type I. The correction method].

    Science.gov (United States)

    Manukian, V Iu; Bolotova, N V; Aver'ianov, A P; Filina, N Iu; Raĭgorodskiĭ, Iu M

    2011-01-01

    We assessed the state of the autonomic nervous system in 90 children with diabetes mellitus type I. The autonomic dysfunction syndrome was found in 58,9% and diabetic cardiac autonomic neuropathy in 28,9% of patients. We revealed the high risk of the development of diabetic cardiac autonomic neuropathy in children with diabetes mellitus type I in the presence of the autonomic dysfunction syndrome. It has been shown that the early treatment of functional disturbances of the autonomic nervous system using transcranial magnetic stimulation is necessary to prevent the manifestation of diabetic cardiac autonomic neuropathy.

  14. The role of 11?-hydroxysteroid dehydrogenase type 1 and type2 isoenzymes on the pathogenesis of Cushing’s syndrome - doi:10.5020/18061230.2007.p104

    Directory of Open Access Journals (Sweden)

    Maria Betânia Pereira Toralles

    2012-01-01

    Full Text Available The action of glucocorticoids is modulated by isoenzymes 11?-hidroxiesteróide desidrogenases (11?-HSD type 1 and 2. The knowledge concerning these isoenzymes contribute to the understanding of the regulatory mechanisms involved in several disease processes of the Cushing’s syndrome, such as obesity, osteoporosis and hypertension. With the aim at describing the action of isoenzymes 11?-HSD type 1 and 2 in the Cushing’s syndrome, a literature review was done from 1990 - 2006 using the Medline data base, searching for the following key-words: Cushing’s syndrome, glucocorticoids, 11?-hydroxysteroid dehydrogenase, hypertension, osteoporosis and obesity. Review studies, meta-analysis and original articles were selected and chosen on the basis of methodological aspects and relevance. The exact mechanism by which cortisol increases blood pressure is not completely understood, but it involves, among others factors, changes in the sodium homeostasis. The conversion of cortisone to cortisol through expression of 11?-HSD1 induces the differentiation of preadipoctyes to mature adipoctyes and such patients develop an increase in visceral fat. The prevalence of osteoporosis in adult patients with Cushing’s syndrome is approximately 50% and glucocorticoids play a strong effect on the bone and calcium metabolism. The isoenzymes 11?-HSD1 and 11?-HSD2 have an important function in these several pathophysiology processes; however the isoenzymes action in the pathophysiology of the Cushing’s syndrome need to be more investigated.

  15. 11β-Hydroxysteroid dehydrogenase type 1: relevance of its modulation in the pathophysiology of obesity, the metabolic syndrome and type 2 diabetes mellitus.

    Science.gov (United States)

    Pereira, C D; Azevedo, I; Monteiro, R; Martins, M J

    2012-10-01

    Recent evidence strongly argues for a pathogenic role of glucocorticoids and 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) in obesity and the metabolic syndrome, a cluster of risk factors for atherosclerotic cardiovascular disease and type 2 diabetes mellitus (T2DM) that includes insulin resistance (IR), dyslipidaemia, hypertension and visceral obesity. This has been partially prompted not only by the striking clinical resemblances between the metabolic syndrome and Cushing's syndrome (a state characterized by hypercortisolism that associates with metabolic syndrome components) but also from monogenic rodent models for the metabolic syndrome (e.g. the leptin-deficient ob/ob mouse or the leptin-resistant Zucker rat) that display overall increased secretion of glucocorticoids. However, systemic circulating glucocorticoids are not elevated in obese patients and/or patients with metabolic syndrome. The study of the role of 11β-HSD system shed light on this conundrum, showing that local glucocorticoids are finely regulated in a tissue-specific manner at the pre-receptor level. The system comprises two microsomal enzymes that either activate cortisone to cortisol (11β-HSD1) or inactivate cortisol to cortisone (11β-HSD2). Transgenic rodent models, knockout (KO) for HSD11B1 or with HSD11B1 or HSD11B2 overexpression, specifically targeted to the liver or adipose tissue, have been developed and helped unravel the currently undisputable role of the enzymes in metabolic syndrome pathophysiology, in each of its isolated components and in their prevention. In the transgenic HSD11B1 overexpressing models, different features of the metabolic syndrome and obesity are replicated. HSD11B1 gene deficiency or HSD11B2 gene overexpression associates with improvements in the metabolic profile. In face of these demonstrations, research efforts are now being turned both into the inhibition of 11β-HSD1 as a possible pharmacological target and into the role of dietary habits on the

  16. Current position of vasoconstrictor and albumin infusion for type 1 hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Abhasnee; Sobhonslidsuk

    2015-01-01

    Spontaneous bacterial peritonitis(SBP),refractory ascites,hepatorenal syndrome(HRS),hyponatremia and hepatic encephalopathy are complicationswhich frequently happen during a clinical course of decompensated cirrhosis.Splanchnic and peripheral vasodilatation,increased intrarenal vasoconstriction and impaired cardiac responsive function are pathological changes causing systemic and hemodynamic derangement.Extreme renal vasoconstriction leads to severe reduction of renal blood flow and glomerular filtration rate,which finally evolves into the clinical feature of HRS.Clinical manifestations of type 1 and type 2 HRS come to medical attention differently.Patients with type1 HRS present as acute kidney injury whereas those with type 2 HRS will have refractory ascites as the leading problem.Prompt diagnosis of type 1 HRS can halt the progression of HRS to acute tubular necrosis if the combined treatment of albumin infusion and vasoconstrictors is started timely.HRS reversal was seen in 34%-60%of patients,followed with decreasing mortality.Baseline serum levels of creatinine less than5 mg/dL,bilirubin less than 10 mg/dL,and increased mean arterial pressure of over 5 mmHg by day 3 of the combined treatment of vasoconstrictor and albumin are the predictors of good response.Type 1 HRS can be prevented in some conditions such as albumin infusion in SBP,prophylactic antibiotics for upper gastrointestinal hemorrhage,albumin replacement after large volume paracentesis in cirrhotic patients with massive ascites.The benefit of albumin infusion in infection with primary source other than SBP requires more studies.

  17. NCEP-ATP III and IDF criteria for metabolic syndrome predict type 2 diabetes mellitus

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    Eva Sulistiowati

    2016-05-01

    Full Text Available Background Subjects with metabolic syndrome (MetS have a greater risk for acquiring type 2 diabetes mellitus (type 2 DM. The MetS criteria usually used are those of the National Cholesterol Education Program Expert Panel (NCEP and Adult Treatment Panel III (ATP III and of the International Diabetes Federation (IDF. This study aimed to evaluate the modified NCEP-ATP III and IDF criteria as predictor of type 2 DM among subjects with MetS.   Methods A cohort study was conducted among 4240 subjects with MetS. MetS was determined according to the modified NCEP-ATP III and IDF criteria. The study followed up 3324 non-diabetic subjects of the cohort study of non-communicable disease (NCD risk factors (NCD study during a 2-year period. Type 2 DM was determined from the diagnosis by health personnel or from fasting blood glucose of ≥126 mg/dL or blood glucose of ≥200 mg/dL, 2 hours after 75g glucose loading.   Results The MetS prevalence based on modified NCEP ATP III and IDF criteria in non-DM subjects was 17.1% and 15.6%, respectively. The risk for DM in subjects with MetS using modified NCEP ATP III and IDF criteria was 4.7 (CI 95%: 3.4-6.5 and 4.1 (CI 95%: 3.0-5.7, respectively.   Conclusions Both MetS criteria can be used as predictors of the occurrence of DM type 2, but the modified NCEP-ATP III is more properly applied than the IDF criteria in subjects with MetS. Screening programs and routine monitoring of MetS components are required for early detection of type 2 DM.

  18. Concurrent vaccination of pigs with type 1 and type 2 porcine reproductive and respiratory syndrome virus (PRRSV) protects against type 1 PRRSV but not against type 2 PRRSV on dually challenged pigs.

    Science.gov (United States)

    Park, Changhoon; Choi, Kyuhyung; Jeong, Jiwoon; Kang, Ikjae-; Park, Su-Jin; Chae, Chanhee

    2015-12-01

    The objective of the present study was to evaluate the effect of concurrent vaccination of pigs with both type 1 and type 2 porcine reproductive and respiratory syndrome virus (PRRSV) vaccine against heterologous dual challenge of both genotypes and compare with single vaccination of pigs against heterologous single challenge of both genotypes. Pigs were administered both type 1 and type 2 PRRSV vaccine concurrently into separate anatomical sites at 28 days of age and inoculated intranasally with both genotypes at 63 days of age. Neutralizing antibodies (NA) were not detected in any pigs in any group (NA titer vaccination of pigs with two PRRSV genotypes had significantly lower numbers of type 1 and type 2 PRRSV-specific interferon-γ secreting cells (IFN-γ-SC) compared to vaccination of pigs with type 1 or type 2 PRRSV only. Despite the decreased induction of type 1 PRRSV-specific IFN-γ-SC, concurrent vaccination is still able to reduce type 1 PRRSV viremia whereas the decreased induction of type 2 PRRSV-specific IFN-γ-SC by concurrent vaccination correlates with lack of reduction of type 2 PRRSV viremia after dual challenge. The results of this study demonstrated that concurrent vaccination of pigs with two PRRSV genotypes is able to reduce the levels of type 1 PRRSV viremia and lung lesions but not able to reduce the levels of type 2 PRRSV viremia and lung lesions.

  19. Aortopulmonary window parathyroid gland causing primary hyperparathyroidism in men type 1 syndrome.

    Science.gov (United States)

    Tonelli, Francesco; Biagini, Carlo; Giudici, Francesco; Cioppi, Federica; Brandi, Maria Luisa

    2016-01-01

    Primary hyperparathyroidism (HPT) is the most common endocrinopathy in Multiple Endocrine Neoplasia type 1 (MEN1) syndrome. Supernumerary and/or ectopic parathyroid glands, potentially causes of persistent or recurrent HPT after surgery, have been previously described. However, this is the first ever described case of ectopic parathyroid gland localized in the aortopulmunary window causing HPT in MEN1. After a consistent concordant pre-operative imaging assessment the patient, a 16 years old male affected by a severe hypercalcemia, underwent surgery. The parathyroid was found very deeply near the tracheal bifurcation, hidden by the aortic arch itself and for this reason not visible at the beginning of the dissection but only after being identified by palpation for its typical consistence. The intraoperative PTH decreased at normal level 10 min after removal of the ectopic gland. The patient remained with normal value of calcemia and PTH during the 10 months of follow-up.

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

    Science.gov (United States)

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

    2005-03-01

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

  1. Generation of Hermansky Pudlak syndrome type 2 (HPS2 induced pluripotent stem cells (iPSCs

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    Jean Ann Maguire

    2016-03-01

    Full Text Available Hermansky–Pudlak syndrome type 2 (HPS2 is a rare autosomal recessive disorder resulting from functional mutations in the adaptor-related protein complex 3, beta 1 subunit (AP3B1 gene. This gene plays a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Here we describe the generation of an HPS2 iPS cell line (CHOPHPS2 using a Cre-excisable polycistronic STEMCCA lentivirus. This line was derived from human fibroblasts isolated from a patient carrying two mutations in the AP3B1 gene. The patient presented with severe neutropenia, ocular albinism, interstitial pulmonary fibrosis, hemorrhagic diathesis, and an absence of platelet-dense granules.

  2. Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene.

    Science.gov (United States)

    Culic, Vida; Betz, Regina C; Refke, Melanie; Fumic, Ksenija; Pavelic, Jasminka

    2011-01-01

    In the present study we report the clinical features and the molecular genetic investigation of the tyrosine aminotransferase (TAT) gene in a young girl from Croatia with Richner-Hanhart syndrome, mainly suffering from photophobia, hyperkeratosis of the palmes and soles and slight neurological abnormalities. Sequencing analysis of the TAT gene revealed a novel homozygous missense mutation c.1250G>A (p.R417Q) in exon 12, and herewith confirmed the clinical diagnosis. Showing the first symptoms in babyhood, at the age of 8 years it was for the first time clinically diagnosed that the patient suffers from tyrosinemia type II and a therapy with tyrosine and phenylalanine reduced diet has been started successfully. All symptoms disappeared within 2-4 weeks. Since that time, we have been following the girl until today for more than ten years. She is in a good condition, and attends the normal high school program.

  3. Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.

    Science.gov (United States)

    Shotelersuk, V; Tifft, C J; Vacha, S; Peters, K F; Biesecker, L G

    1999-09-17

    The oral-facial-digital syndrome type 1 (OFD1) includes limb, facial, intraoral malformations and the gene for the disorder was recently mapped to Xp22.3-p22.2. We report on monozygotic twin girls discordant for OFD1. Monozygosity is supported by placental pathology (monochorionic diamniotic) and molecular studies with probability of dizygosity twin has oral cavity abnormalities including median cleft lip, cleft palate, lobulated hamartomatous tongue, aberrant hyperplastic oral frenula, alveolar notches, and absent lateral incisors. Facial manifestations include telecanthus, hypoplastic alae nasi, and transient neonatal facial milia. The patient also has short and deviated fingers with partial cutaneous syndactyly. At 10 years, she has not had central nervous system or kidney problems. X-inactivation study revealed similar X-inactivation patterns in the lymphoblasts of both twins. We conclude that skewed X-inactivation is an unlikely cause for the discordance, which is more likely due to a postzygotic mutation in the affected twin.

  4. Concise Review: Methods and Cell Types Used to Generate Down Syndrome Induced Pluripotent Stem Cells

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    Youssef Hibaoui

    2015-04-01

    Full Text Available Down syndrome (DS, trisomy 21, is the most common viable chromosomal disorder, with an incidence of 1 in 800 live births. Its phenotypic characteristics include intellectual impairment and several other developmental abnormalities, for the majority of which the pathogenetic mechanisms remain unknown. Several models have been used to investigate the mechanisms by which the extra copy of chromosome 21 leads to the DS phenotype. In the last five years, several laboratories have been successful in reprogramming patient cells carrying the trisomy 21 anomaly into induced pluripotent stem cells, i.e., T21-iPSCs. In this review, we summarize the different T21-iPSCs that have been generated with a particular interest in the technical procedures and the somatic cell types used for the reprogramming.

  5. Glomerular Glucocorticoid Receptors Expression and Clinicopathological Types of Childhood Nephrotic Syndrome.

    Science.gov (United States)

    Gamal, Yasser; Badawy, Ahlam; Swelam, Salwa; Tawfeek, Mostafa S K; Gad, Eman Fathalla

    2017-02-01

    Glucocorticoids are primary therapy of idiopathic nephrotic syndrome (INS). However, not all children respond to steroid therapy. We assessed glomerular glucocorticoid receptor expression in fifty-one children with INS and its relation to response to steroid therapy and to histopathological type. Clinical, laboratory and glomerular expression of glucocorticoid receptors were compared between groups with different steroid response. Glomerular glucocorticoid expression was slightly higher in controls than in minimal change early responders, which in turn was significantly higher than in minimal change late responders. There was significantly lower glomerular glucocorticoid receptor expression in steroid-resistance compared to early responders, late responders and controls. Glomerular glucocorticoid expression was significantly higher in all minimal change disease (MCD) compared to focal segmental glomerulosclerosis. In INS, response to glucocorticoid is dependent on glomerular expression of receptors and peripheral expression. Evaluation of glomerular glucocorticoid receptor expression at time of diagnosis of NS can predict response to steroid therapy.

  6. Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC.

    Science.gov (United States)

    Wertelecki, W; Smith, L T; Byers, P

    1992-10-01

    We describe initial observations of an infant with dermatosparaxis (another form of Ehlers-Danlos syndrome, designated as type VIIC), an autosomal recessive disorder characterized by skin fragility and described in several species of domesticated animals. Electron microscopic examination of the skin shows collagen sheets rather than fibrils, and characteristic distortions resembling hieroglyphs. In addition to skin fragility, the disorder is characterized by redundant skin folds and edema, healing with minimal scar formation, large fontanels and wide sagittal and metopic sutures, blue sclerae, micrognathia, and umbilical hernia; after the neonatal period there are joint laxity, growth failure, short limbs, and normal mineralization of the skeleton except for the cranial vault. This disorder may also be a cause of premature rupture of placental membranes and myopia.

  7. Moyamoya syndrome associated with neurofibromatosis type I in a pediatric patient

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    Luiz Guilherme Darrigo Júnior

    Full Text Available CONTEXT: Neurofibromatosis type 1 (NF-1 is the most prevalent autosomal dominant genetic disorder among humans. Moyamoya disease is a cerebral vasculopathy that is only rarely observed in association with NF-1, particularly in the pediatric age range. The present study reports an occurrence of this association in an infant. CASE REPORT: An eight-month-old female presented convulsive seizures with clonic movements. The patient suffered an ischemic stroke with hemiparesis. Magnetic resonance imaging revealed radiological findings compatible with moyamoya disease. The diagnosis of NF-1 was made at the age of 20 months. CONCLUSION: Despite the rarity of this association in childhood, children with focal neurological symptoms and a diagnosis of NF-1 deserve to be investigated for moyamoya syndrome.

  8. Cardiac arrest secondary to type 2 Kounis syndrome resulting from urticaria and angioedema.

    Science.gov (United States)

    Connor, Suzy; Child, Nick; Burdon-Jones, David; Connor, Andrew

    2010-07-01

    A 43-year-old man with no cardiac history presented with chest pain followed by cardiac arrest. He was successfully defibrillated and underwent primary percutaneous coronary angioplasty to a culprit coronary artery lesion. He later re-presented with a diffuse urticarial rash and lip swelling, reporting that these symptoms had been present for 4 weeks before his cardiac arrest and voicing concern that a further cardiac arrest may be imminent. A diagnosis of post-viral or idiopathic autoimmune urticaria and angioedema was made. Given the absence of cardiac symptoms before the development of the rash, it was hypothesised that coronary artery spasm precipitated by histamine release due to his dermatological condition contributed to his myocardial infarction and cardiac arrest. The final diagnosis was therefore cardiac arrest secondary to type II Kounis syndrome, resulting from idiopathic autoimmune or post-viral urticaria and angioedema.

  9. Prevalence of carpal tunnel syndrome in cases with migraine and tension type headache

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    Volkan Solmaz

    2015-02-01

    Full Text Available Background: Carpal Tunnel Syndrome (CTS is the most frequent entrapment neuropathy; also Tension Type Headache (TTH and migraine headache are the most common forms of headaches. The aim of this study is to determine whether there is a relationship between carpal tunnel syndrome and migraine and/or TTH, and if so, to determine the factors causing this relationship. Methods: This study included 201 patients who were electro-physiologically diagnosed with idiopathic CTS and 100 controls. In addition to being examined for headaches, each patient's Body Mass Index (BMI was determined, and each was evaluated with Boston Questionnaire Form (BQF and a Beck Depression Scale (BDS. Results: The CTS group had significantly more patients with TTH and migraine headache than did the control group. In addition, the CTS group had a significantly higher frequency of headaches, and significantly higher BDS and BMI than did the controls. There were no significant differences in headache type and frequency of headache between those with mild CTS and those with mild-serious CTS. In addition, the Boston scores of CTS patients with headache were higher than those CTS patients without headache. Further, the monthly income levels of patients with CTS were lower than those of the control group. Conclusion: We found that primary headache is more frequent in CTS patients than in controls. This may be due to somato-autonomic reflexes and other common risk factors that can be seen in both CTS patients and those with headache, including obesity, depression and low level of income. [Int J Res Med Sci 2015; 3(2.000: 456-460

  10. Metabolic syndrome, dyslipidemia, hypertension and type 2 diabetes in youth: from diagnosis to treatment.

    Science.gov (United States)

    Halpern, Alfredo; Mancini, Marcio C; Magalhães, Maria Eliane C; Fisberg, Mauro; Radominski, Rosana; Bertolami, Marcelo C; Bertolami, Adriana; de Melo, Maria Edna; Zanella, Maria Teresa; Queiroz, Marcia S; Nery, Marcia

    2010-08-18

    Overweight and obesity in youth is a worldwide public health problem. Overweight and obesity in childhood and adolescents have a substantial effect upon many systems, resulting in clinical conditions such as metabolic syndrome, early atherosclerosis, dyslipidemia, hypertension and type 2 diabetes (T2D). Obesity and the type of body fat distribution are still the core aspects of insulin resistance and seem to be the physiopathologic links common to metabolic syndrome, cardiovascular disease and T2D. The earlier the appearance of the clustering of risk factors and the higher the time of exposure, the greater will be the chance of developing coronary disease with a more severe endpoint. The age when the event may occur seems to be related to the presence and aggregation of risk factors throughout life.The treatment in this age-group is non pharmacological and aims at promoting changes in lifestyle. However, pharmacological treatments are indicated in special situations.The major goals in dietary treatments are not only limited to weight loss, but also to an improvement in the quality of life. Modification of risk factors associated to comorbidities, personal satisfaction of the child or adolescent and trying to establish healthy life habits from an early age are also important. There is a continuous debate on the best possible exercise to do, for children or adolescents, in order to lose weight. The prescription of physical activity to children and adolescents requires extensive integrated work among multidisciplinary teams, patients and their families, in order to reach therapeutic success.The most important conclusion drawn from this symposium was that if the growing prevalence of overweight and obesity continues at this pace, the result will be a population of children and adolescents with metabolic syndrome. This would lead to high mortality rates in young adults, changing the current increasing trend of worldwide longevity. Government actions and a better

  11. Spine deformities in patients with Ehlers-Danlos syndrome, type IV - late results of surgical treatment

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    Tesiorowski Maciej

    2010-11-01

    Full Text Available Abstract Background Spinal deformities in Ehlers-Danlos syndrome are usually progressive and may require operative treatment. There is limited number of studies describing late results of surgery in this disease. Methods This is a retrospective study of the records of 11 patients with Ehlers-Danlos syndrome type IV, treated surgically between 1990 and 2007. All patients underwent surgical treatment for spinal deformity. Duration of operation, type of instrumentation, intraoperative blood loss, complications and number of additional surgeries were noted. Radiographic measurement was performed on standing AP and lateral radiographs acquired before surgery, just after and at final follow up. Results The mean follow up period was 5.5 ± 2.9 years (range 1-10 years. The mean preoperative thoracic and lumbar curve were 109.5 ± 19.9° (range 83° - 142° and 75.6 ± 26.7° (range 40° - 108° respectively. Posterior spine fusion alone was performed on 6 patients and combined anterior and posterior fusion (one- or two stage on 5 cases. Posterior segmental spinal instrumentation was applied with use of hooks, screws and wires. The mean postoperative thoracic and lumbar curve improved to 79.3 ± 16.1° (range 56° - 105° and 58.5 ± 27.7° (range 10° - 95° respectively, with a slight loss of correction during follow up. The average thoracic and lumbar correction was 26.4 ± 14.9% (range 5.3 - 50.4% and 26.3 ± 21.2% (range 7.9 - 75%. Postoperatively, the mean kyphosis was 79.5 ± 40.3° (range 21° -170°, and lordosis was 50.8 ± 18.6° (range 20° -79°. Hyperkyphosis increased during follow up while lordosis remained stable. Mean Th12-L2 angle was -3.5 ±9.9° (range -19° - 15° postoperatively and did not change significantly during follow up. Conclusions Huge spinal deformities in patients with Ehlers-Danlos syndrome require complex and extensive surgery. There is a big risk of sagittal imbalance in this group.

  12. Metabolic syndrome, dyslipidemia, hypertension and type 2 diabetes in youth: from diagnosis to treatment

    Directory of Open Access Journals (Sweden)

    Halpern Alfredo

    2010-08-01

    Full Text Available Abstract Overweight and obesity in youth is a worldwide public health problem. Overweight and obesity in childhood and adolescents have a substantial effect upon many systems, resulting in clinical conditions such as metabolic syndrome, early atherosclerosis, dyslipidemia, hypertension and type 2 diabetes (T2D. Obesity and the type of body fat distribution are still the core aspects of insulin resistance and seem to be the physiopathologic links common to metabolic syndrome, cardiovascular disease and T2D. The earlier the appearance of the clustering of risk factors and the higher the time of exposure, the greater will be the chance of developing coronary disease with a more severe endpoint. The age when the event may occur seems to be related to the presence and aggregation of risk factors throughout life. The treatment in this age-group is non pharmacological and aims at promoting changes in lifestyle. However, pharmacological treatments are indicated in special situations. The major goals in dietary treatments are not only limited to weight loss, but also to an improvement in the quality of life. Modification of risk factors associated to comorbidities, personal satisfaction of the child or adolescent and trying to establish healthy life habits from an early age are also important. There is a continuous debate on the best possible exercise to do, for children or adolescents, in order to lose weight. The prescription of physical activity to children and adolescents requires extensive integrated work among multidisciplinary teams, patients and their families, in order to reach therapeutic success. The most important conclusion drawn from this symposium was that if the growing prevalence of overweight and obesity continues at this pace, the result will be a population of children and adolescents with metabolic syndrome. This would lead to high mortality rates in young adults, changing the current increasing trend of worldwide longevity

  13. Impact of type 2 diabetes and the metabolic syndrome on myocardial structure and microvasculature of men with coronary artery disease

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    Yii Michael

    2011-09-01

    Full Text Available Abstract Background Type 2 diabetes and the metabolic syndrome are associated with impaired diastolic function and increased heart failure risk. Animal models and autopsy studies of diabetic patients implicate myocardial fibrosis, cardiomyocyte hypertrophy, altered myocardial microvascular structure and advanced glycation end-products (AGEs in the pathogenesis of diabetic cardiomyopathy. We investigated whether type 2 diabetes and the metabolic syndrome are associated with altered myocardial structure, microvasculature, and expression of AGEs and receptor for AGEs (RAGE in men with coronary artery disease. Methods We performed histological analysis of left ventricular biopsies from 13 control, 10 diabetic and 23 metabolic syndrome men undergoing coronary artery bypass graft surgery who did not have heart failure or atrial fibrillation, had not received loop diuretic therapy, and did not have evidence of previous myocardial infarction. Results All three patient groups had similar extent of coronary artery disease and clinical characteristics, apart from differences in metabolic parameters. Diabetic and metabolic syndrome patients had higher pulmonary capillary wedge pressure than controls, and diabetic patients had reduced mitral diastolic peak velocity of the septal mitral annulus (E', consistent with impaired diastolic function. Neither diabetic nor metabolic syndrome patients had increased myocardial interstitial fibrosis (picrosirius red, or increased immunostaining for collagen I and III, the AGE Nε-(carboxymethyllysine, or RAGE. Cardiomyocyte width, capillary length density, diffusion radius, and arteriolar dimensions did not differ between the three patient groups, whereas diabetic and metabolic syndrome patients had reduced perivascular fibrosis. Conclusions Impaired diastolic function of type 2 diabetic and metabolic syndrome patients was not dependent on increased myocardial fibrosis, cardiomyocyte hypertrophy, alteration of the

  14. Cardiac complications in a metamizole-induced type I Kounis syndrome

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    Jose F. Martínez Juste

    2016-04-01

    Full Text Available ABSTRACT Kounis syndrome is defined as the coincidental occurrence of allergic reaction and acute coronary syndrome secondary to vasospasm. Anti-inflammatory drugs are included as one of the multiple causes. Current data available about this syndrome come from case reports. We present the case of a patient who suffered Kounis syndrome with cardiogenic shock and asystole after intravenous infusion of Metamizole, and in which no lesions were observed in coronariography.

  15. Abnormal thalamocortical activity in patients with Complex Regional Pain Syndrome (CRPS) type I.

    Science.gov (United States)

    Walton, K D; Dubois, M; Llinás, R R

    2010-07-01

    Complex Regional Pain Syndrome (CRPS) is a neuropathic disease that presents a continuing challenge in terms of pathophysiology, diagnosis, and treatment. Recent studies of neuropathic pain, in both animals and patients, have established a direct relationship between abnormal thalamic rhythmicity related to Thalamo-cortical Dysrhythmia (TCD) and the occurrence of central pain. Here, this relationship has been examined using magneto-encephalographic (MEG) imaging in CRPS Type I, characterized by the absence of nerve lesions. The study addresses spontaneous MEG activity from 13 awake, adult patients (2 men, 11 women; age 15-62), with CRPS Type I of one extremity (duration range: 3months to 10years) and from 13 control subjects. All CRPS I patients demonstrated peaks in power spectrum in the delta (orbitofrontal-temporal cortices related to the affective pain perception. Indeed, CRPS Type I patients presented abnormal brain activity typical of TCD, which has both diagnostic value indicating a central origin for this ailment and a potential treatment interest involving pharmacological and electrical stimulation therapies.

  16. Dental implants as Treatment Option in Patients With Osteopenic Syndrome and Type II Diabetes

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    M.V. Kozlova

    2009-06-01

    Full Text Available One of the important problems in modern dentistry is the study of jaw bone changes associated with type II diabetes. The aim of this study is to evaluate the influence of osteopenic syndrome on osseointegration when using dental implants in patients with type II diabetes. 40 patients with type II diabetes have been evaluated and assigned to two different groups based on the duration of the disease. Including criteria in patients with compensated diabetes were fasting glucose test results <6 mM/l and glycohemoglobin concentration ≤6%. All patients have been evaluated by means of dual energy X-ray absorptiometry on Discovery W densitometer by HOLOGIC. Laboratory blood markers have been used to assess the rate of metabolic processes. 43 implants have been fixed in both groups and maxillary sinus lifting has been applied in 4 cases. No immediate or late post -operative complications have been registered. In cases of disease duration over 5 years and presence of osteopenia the period of surgical wound healing has been prolongated.

  17. Molecular Typing of Staphylococcus aureus Isolated from Patients with Autosomal Dominant Hyper IgE Syndrome

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    Inka Sastalla

    2017-06-01

    Full Text Available Autosomal dominant hyper IgE syndrome (AD-HIES is a primary immunodeficiency caused by a loss-of-function mutation in the Signal Transducer and Activator of Transcription 3 (STAT3. This immune disorder is clinically characterized by increased susceptibility to cutaneous and sinopulmonary infections, in particular with Candida and Staphylococcus aureus. It has recently been recognized that the skin microbiome of patients with AD-HIES is altered with an overrepresentation of certain Gram-negative bacteria and Gram-positive staphylococci. However, these alterations have not been characterized at the species- and strain-level. Since S. aureus infections are influenced by strain-specific expression of virulence factors, information on colonizing strain characteristics may provide insights into host-pathogen interactions and help guide management strategies for treatment and prophylaxis. The aim of this study was to determine whether the immunodeficiency of AD-HIES selects for unique strains of colonizing S. aureus. Using multi-locus sequence typing (MLST, protein A (spa typing, and PCR-based detection of toxin genes, we performed a detailed analysis of the S. aureus isolates (n = 13 found on the skin of twenty-one patients with AD-HIES. We found a low diversity of sequence types, and an abundance of strains that expressed methicillin resistance, Panton-Valentine leukocidin (PVL, and staphylococcal enterotoxins K and Q (SEK, SEQ. Our results indicate that patients with AD-HIES may often carry antibiotic-resistant strains that harbor key virulence factors.

  18. Dual compression is not an uncommon type of iliac vein compression syndrome.

    Science.gov (United States)

    Shi, Wan-Yin; Gu, Jian-Ping; Liu, Chang-Jian; Lou, Wen-Sheng; He, Xu

    2017-03-13

    Typical iliac vein compression syndrome (IVCS) is characterized by compression of left common iliac vein (LCIV) by the overlying right common iliac artery (RCIA). We described an underestimated type of IVCS with dual compression by right and left common iliac arteries (LCIA) simultaneously. Thirty-one patients with IVCS were retrospectively included. All patients received trans-catheter venography and computed tomography (CT) examinations for diagnosing and evaluating IVCS. Late venography and reconstructed CT were used for evaluating the anatomical relationship among LCIV, RCIA and LCIA. Imaging manifestations as well as demographic data were collected and evaluated by two experienced radiologists. Sole and dual compression were found in 32.3% (n = 10) and 67.7% (n = 21) of 31 patients respectively. No statistical differences existed between them in terms of age, gender, LCIV diameter at the maximum compression point, pressure gradient across stenosis, and the percentage of compression level. On CT and venography, sole compression was commonly presented with a longitudinal compression at the orifice of LCIV while dual compression was usually presented as two types: one had a lengthy stenosis along the upper side of LCIV and the other was manifested by a longitudinal compression near to the orifice of external iliac vein. The presence of dual compression seemed significantly correlated with the tortuous LCIA (p = 0.006). Left common iliac vein can be presented by dual compression. This type of compression has typical manifestations on late venography and CT.

  19. A case of stiff-person syndrome, type 1 diabetes, celiac disease and dermatitis herpetiformis.

    LENUS (Irish Health Repository)

    O'Sullivan, Eoin P

    2009-05-01

    Antibodies against glutamic acid decarboxylase (GAD) are involved in the pathophysiology of stiff-person syndrome (SPS) and type 1 diabetes. GAD catalyses the conversion of glutamate to gamma-aminobutyric acid (GABA). GABA acts as a neurotransmitter between neurones, while in pancreatic beta cells it plays an integral role in normal insulin secretion, hence the clinical presentation of muscular spasms in SPS and insulin deficiency in diabetes. Despite this apparent major overlap in pathophysiology, SPS only rarely occurs in individuals with type 1 diabetes. We report the case of a 41-year-old man presenting with a simultaneous diagnosis of both these conditions. His case is unusual in that it is the first reported case in the literature of these conditions occurring in someone with celiac disease (CD) and dermatitis herpetiformis. We discuss why SPS and type 1 diabetes co-exist in only a minority of cases and speculate on the underlying mechanism of the association with CD and dermatitis herpetiformis in our patient.

  20. The Role of Testosterone in the Etiology and Treatment of Obesity, the Metabolic Syndrome, and Diabetes Mellitus Type 2

    Directory of Open Access Journals (Sweden)

    Farid Saad

    2011-01-01

    Full Text Available Obesity has become a major health problem. Testosterone plays a significant role in obesity, glucose homeostasis, and lipid metabolism. The metabolic syndrome is a clustering of risk factors predisposing to diabetes mellitus type 2, atherosclerosis, and cardiovascular morbidity and mortality. The main components of the syndrome are visceral obesity, insulin resistance, glucose intolerance, raised blood pressure and dyslipidemia (elevated triglycerides, low levels of high-density lipoprotein cholesterol, and a proinflammatory and thrombogenic state. Cross-sectional epidemiological studies have reported a direct correlation between plasma testosterone and insulin sensitivity, and low testosterone levels are associated with an increased risk of type 2 diabetes mellitus, dramatically illustrated by androgen deprivation in men with prostate carcinoma. Lower total testosterone and sex hormone-binding globulin (SHBG predict a higher incidence of the metabolic syndrome. Administration of testosterone to hypogonadal men reverses part of the unfavorable risk profile for the development of diabetes and atherosclerosis.

  1. Impact of spinal cord stimulation on sensory characteristics in complex regional pain syndrome type I - A randomized trial

    NARCIS (Netherlands)

    Kemler, MA; Reulen, JPH; Barendse, GAM; van Kleef, M; de Vet, HCW; van den Wildenberg, FAJM

    2001-01-01

    Background: A randomized trial was performed to assess the effect of spinal cord stimulation (SCS) on detection and pain thresholds for pressure, warmth, and cold and on the extent of mechanical hyperalgesia in patients with chronic complex regional pain syndrome type I. Methods: Fifty-four chronic

  2. EHLERS-DANLOS SYNDROME TYPE-IV - PHENOTYPIC CONSEQUENCES OF A SPLICING MUTATION IN ONE COL3A1 ALLELE

    NARCIS (Netherlands)

    SILLENCE, DO; CHIODO, AA; CAMPBELL, PE; COLE, WG

    1991-01-01

    The features of a child with Ehlers-Danlos syndrome type IV (EDS IV) resulting from a mutation in one COL3A1 allele were studied. The child was heterozygous for a G- to A-transition at the splice donor site of intron 41. It resulted in the splicing out of the exon 41 encoded sequence from alpha-1(II

  3. Prediction of type 2 diabetes mellitus with alternative definitions of the metabolic syndrome - The insulin resistance atherosclerosis study

    NARCIS (Netherlands)

    Hanley, A.J.G.; Karter, A.J.; Williams, K.; Festa, A.; D'Agostino, R.B.; Wagenknecht, L.E.; Haffner, S.M.

    2005-01-01

    Background-In addition to predicting cardiovascular disease (CVD) morbidity and mortality, the metabolic syndrome is strongly associated with the development of type 2 diabetes mellitus (DM), itself an important risk factor for CVD. Our objective was to compare the ability of various metabolic syndr

  4. Pathogenicity of three type 2 Porcine Reproductive and Respiratory Syndrome virus strains in experimentally inoculated pregnant gilts

    Science.gov (United States)

    Mechanisms of reproductive failure resulting from infection with porcine reproductive and respiratory syndrome virus (PRRSv) are still poorly understood. The present study, a side-by-side evaluation of the pathogenicity of three type 2 PRRSv strains in a reproductive model, was used as a pilot study...

  5. Relationship between high normal TSH levels and metabolic syndrome components in type 2 diabetic subjects with euthyroidism

    Directory of Open Access Journals (Sweden)

    Lilit Petrosyan

    2015-09-01

    Conclusion: In type 2 diabetic subjects with biochemical euthyroidism we found significant association between high normal TSH levels and components of metabolic syndrome. High normal TSH levels were associated with more number of subjects with glycemic goal (HbA1c >7%.

  6. Type 2 diabetes seems not to be a risk factor for the carpal tunnel syndrome : a case control study

    NARCIS (Netherlands)

    Hendriks, Steven H.; van Dijk, Peter R.; Groenier, Klaas H.; Houpt, Peter; Bilo, Henk J. G.; Kleefstra, Nanne

    2014-01-01

    BACKGROUND: Previous studies have shown that the carpal tunnel syndrome seems to occur more frequently in patients with diabetes mellitus and might be associated with the duration of diabetes mellitus, microvascular complications and degree of glycaemic control. Primary aim was to determine if type

  7. A Review of College-Level Health Textbooks for Coverage of Type 2 Diabetes, Prediabetes, and Metabolic Syndrome

    Science.gov (United States)

    Ethan, Danna; Rennis, Lesley; Samuel, Lalitha; Seidel, Erica J.; Basch, Corey H.

    2014-01-01

    Objective: Type 2 diabetes, prediabetes, and metabolic syndrome are increasingly relevant health problems for United States (US) college-aged students and their family members. This study's aim was to determine the extent to which these chronic conditions were covered in leading college-level personal health textbooks and to what degree the…

  8. Functional state of the cardiorespiratory system of women with postmastectomy syndrome with different types of attitude to the disease

    Directory of Open Access Journals (Sweden)

    Yuriy Briskin

    2015-08-01

    Full Text Available Purpose: to determine the peculiarities of the functional state of cardiorespiratory system in women with postmastectomy syndrome with different types of attitude to the disease. Material and Methods: analysis of the literature and empirical data; rheography, spirography, the definition of the type of attitude to the disease of personality questionnaires of Institute of Behtereva; methods of mathematical statistics. 115 women with postmastectomy syndrome on clinical stage of rehabilitation were involved in this study. Results: in women with intra- and interpsychic types of attitude to the disease decreased reserve capacity of the cardiovascular and respiratory systems respectively. Conclusions: It was proved that women with a rational relationship to the type of disease show significantly better results of the cardiovascular system compared to interpsychic and intrapsychic.

  9. Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome.

    Science.gov (United States)

    Urbanowicz, Anna; Downs, Jenny; Girdler, Sonya; Ciccone, Natalie; Leonard, Helen

    2015-02-01

    This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. Cross-sectional data on 766 girls, aged 15 years and under, with genetically confirmed Rett syndrome was obtained from the Australian Rett Syndrome Database (ARSD) (n = 244) and the International Rett Syndrome Phenotype Database (InterRett) (n = 522). Relationships between MECP2 mutation type and age of regression in speech-language abilities, and the level of speech-language abilities before and after this regression were investigated. The females had a median age of 4.95 years in the ARSD and 5.25 years in InterRett. The majority (89%, 685/766) acquired speech-language abilities in the form of babble or words at some point in time. Of those who acquired babble or words, 85% (581/685) experienced a regression in these abilities. Those with a p.Arg133Cys mutation were the most likely to use one or more words, prior to (RRR = 3.45; 95% CI 1.15-10.41) and after (RRR = 5.99; 95% CI 2.00-17.92), speech-language regression. Girls with Rett syndrome vary in their use of speech and language, and in their experience of speech-language regression and these variations are partly explained by genotype. © 2014 Wiley Periodicals, Inc.

  10. Vertical deviation and A pattern of type Ⅲ Duane retraction syndrome

    Institute of Scientific and Technical Information of China (English)

    SHE Hai-cheng; MAN Feng-yuan; WANG Zhen-chang; WANG Jing-hui; JIAO Yong-hong; ZHAO Kan-xing

    2012-01-01

    Background Researches in ocular electromyography (EMG) and Magnetic resonance imaging (MRI) of patients with Duane retraction syndrome (DRS) suggest that there may be additional abnormalities such as paradoxical innervation between horizontal rectus muscles and vertical rectus muscles,hypoplasia of vertical rectus muscle and that oblique muscles may also contribute to the heterogeneity of the clinical manifestation of DRS.This paper reports the results of superior rectus recession for vertical deviation and A pattern in DRS Type Ⅲ and discusses the pathogenesis of the disease.Methods Superior and lateral rectus recession were performed in 5 cases of Huber type Ⅲ DRS to treat vertical deviation and A pattern strabismus.Before operation,MRI of the brain,brainstem,cavernous sinus,and orbits were performed.Results All subjects had unilateral limitation of both abduction and adduction,with palpebral fissure narrowing and globe retraction in adduction.Three cases had A pattern of strabismus,three cases had hypertropia.The abducens nerves (CN6) were either absent or hypoplasitic in the brainstem in all patients.Two eyes had larger oculomotor foramen.Two eyes had hypoplasia of the superior rectus and the inferior rectus.There was presumably a branch of the third cranial nerve (CN3) innervating the lateral rectus (LR) in one eye.While in another eye,two branches of CN3 sent into medial rectus were revealed.After surgery,vertical deviation in the primary position was reduced in all patients and A pattern was eliminated in 3 patients.One patient developed 10Δ consecutive esotropia postoperatively,Conclusion The results suggest that structural abnormalities of vertical muscle and abnormal orbital innervation may be related to vertical deviation and the presence of A pattern in DRS type Ⅲ.Recession of the superior rectus muscle seems to be a safe and effective treatment for vertical deviation and A pattern strabismus in DRS Type Ⅲ.

  11. Computer vision syndrome in presbyopia and beginning presbyopia: effects of spectacle lens type.

    Science.gov (United States)

    Jaschinski, Wolfgang; König, Mirjam; Mekontso, Tiofil M; Ohlendorf, Arne; Welscher, Monique

    2015-05-01

    This office field study investigated the effects of different types of spectacle lenses habitually worn by computer users with presbyopia and in the beginning stages of presbyopia. Computer vision syndrome was assessed through reported complaints and ergonomic conditions. A questionnaire regarding the type of habitually worn near-vision lenses at the workplace, visual conditions and the levels of different types of complaints was administered to 175 participants aged 35 years and older (mean ± SD: 52.0 ± 6.7 years). Statistical factor analysis identified five specific aspects of the complaints. Workplace conditions were analysed based on photographs taken in typical working conditions. In the subgroup of 25 users between the ages of 36 and 57 years (mean 44 ± 5 years), who wore distance-vision lenses and performed more demanding occupational tasks, the reported extents of 'ocular strain', 'musculoskeletal strain' and 'headache' increased with the daily duration of computer work and explained up to 44 per cent of the variance (rs = 0.66). In the other subgroups, this effect was smaller, while in the complete sample (n = 175), this correlation was approximately rs = 0.2. The subgroup of 85 general-purpose progressive lens users (mean age 54 years) adopted head inclinations that were approximately seven degrees more elevated than those of the subgroups with single vision lenses. The present questionnaire was able to assess the complaints of computer users depending on the type of spectacle lenses worn. A missing near-vision addition among participants in the early stages of presbyopia was identified as a risk factor for complaints among those with longer daily durations of demanding computer work. © 2015 The Authors. Clinical and Experimental Optometry © 2015 Optometry Australia.

  12. Erythrocytosis in a Patient with Type 1 Diabetes Mellitus and Concomitant Gitelman’s Syndrome

    Directory of Open Access Journals (Sweden)

    Müge Keskin

    2016-06-01

    Full Text Available Gitelman’s syndrome (GS is characterized by hypokalemia, hypomagnesaemia, hypocalciuria, metabolic alkalosis, and neurological symptoms. The association of GS with type 1 diabetes is rare, described only in a few case reports. We report a patient with an unusual combination of GS and type 1 diabetes mellitus with erythrocytosis. A 26-year-old male with GS and type 1 diabetes, who was on intensive insulin therapy with poor compliance, presented with the complaint of headache. On physical examination, his blood pressure was 120/70 mmHg and there was no neurological deficit or proximal muscle weakness. He had no previous medical history of obstructive sleep apnea, heart or lung disease. He had negative smoking history. His laboratory tests revealed erythrocytosis with a hemoglobin level of 18.9 g/dL (13.6-17.2 g/dL and a hematocrit level of 54.8% (39.5-50.3%. Cranial magnetic resonance imaging was normal. He had no evidence of hypovolemia. Hematological workout excluded polycythemia vera and chronic myeloid neoplasm. A bone marrow aspiration revealed a hypercellular marrow with increased erythroid precursors, megakaryocytes and granulocytes. The reticulin stain grade was zero. There was no iron accumulation with iron stain. There was no radiologic evidence of any kind of erythropoietin-producing tumors. His echocardiography was normal. Serum insulin-like growth factor-1 levels and endogenous androgens were within normal limits. After 2 therapeutic phlebotomies, his symptoms improved and his hemoglobin was 16.1 mg/dL. Our patient, besides having GS and type 1 diabetes, was complicated with idiopathic erythrocytosis, all having deleterious effects on hemodynamic status of the patient.

  13. Effect of gluten-free diet and co-morbidity of irritable bowel syndrome-type symptoms on health-related quality of life in adult coeliac patients.

    Science.gov (United States)

    Usai, P; Manca, R; Cuomo, R; Lai, M A; Boi, M F

    2007-09-01

    Both coeliac disease and irritable bowel syndrome show impaired health-related quality of life, however, the impact of irritable bowel syndrome-type symptoms on health-related quality of life in coeliac disease is unclear. To evaluate the effect of gluten-free diet adherence and irritable bowel syndrome-type symptoms co-morbidity on health-related quality of life in adult coeliac disease patients. A total of 1130 adults were enrolled in the study comprising 1001 controls from the general population and 129 diagnosed coeliac disease patients from the University Clinic in Cagliari. Irritable bowel syndrome-type symptoms and health-related quality of life were assessed using the Rome II and the SF-36 questionnaires, respectively. Irritable bowel syndrome-type symptoms prevalence in controls was 10.1% (102/1001) and 55% (71/129) in the coeliac disease patients. Irritable bowel syndrome-type symptom controls and coeliac disease patients both presented significantly lower health-related quality of life (psyndrome-type symptoms. The present results confirm the burden of irritable bowel syndrome-type symptoms and coeliac disease on health-related quality of life. Moreover, these data show that health-related quality of life in coeliac disease is impaired by poor compliance and by co-morbidity with irritable bowel syndrome-type symptoms.

  14. Mirror box therapy added to cognitive behavioural therapy in three chronic complex regional pain syndrome type I patients : a pilot study

    NARCIS (Netherlands)

    Tichelaar, Y. I. G. Vladimir; Geertzen, Jan H. B.; Keizer, Doeke; van Wilgen, C. Paul

    2007-01-01

    Complex regional pain syndrome type I is a disorder of the extremities with disability and pain as the most prominent features. This paper describes the results of cognitive behavioural therapy combined with mirror box therapy in three patients with chronic complex regional pain syndrome type I. Bef

  15. Mirror box therapy added to cognitive behavioural therapy in three chronic complex regional pain syndrome type I patients : a pilot study

    NARCIS (Netherlands)

    Tichelaar, Y. I. G. Vladimir; Geertzen, Jan H. B.; Keizer, Doeke; van Wilgen, C. Paul

    Complex regional pain syndrome type I is a disorder of the extremities with disability and pain as the most prominent features. This paper describes the results of cognitive behavioural therapy combined with mirror box therapy in three patients with chronic complex regional pain syndrome type I.

  16. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

    Science.gov (United States)

    Ekvall, Sara; Sjörs, Kerstin; Jonzon, Anders; Vihinen, Mauno; Annerén, Göran; Bondeson, Marie-Louise

    2014-03-01

    Neurofibromatosis-Noonan syndrome (NFNS) is a rare condition with clinical features of both neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). All three syndromes belong to the RASopathies, which are caused by dysregulation of the RAS-MAPK pathway. The major gene involved in NFNS is NF1, but co-occurring NF1 and PTPN11 mutations in NFNS have been reported. Knowledge about possible involvement of additional RASopathy-associated genes in NFNS is, however, very limited. We present a comprehensive clinical and molecular analysis of eight affected individuals from three unrelated families displaying features of NF1 and NFNS. The genetic etiology of the clinical phenotypes was investigated by mutation analysis, including NF1, PTPN11, SOS1, KRAS, NRAS, BRAF, RAF1, SHOC2, SPRED1, MAP2K1, MAP2K2, and CBL. All three families harbored a heterozygous NF1 variant, where the first family had a missense variant, c.5425C>T;p.R1809C, the second family a recurrent 4bp-deletion, c.6789_6792delTTAC;p.Y2264Tfs*6, and the third family a splice-site variant, c.2991-1G>A, resulting in skipping of exon 18 and an in-frame deletion of 41 amino acids. These NF1 variants have all previously been reported in NF1 patients. Surprisingly, both c.6789_6792delTTAC and c.2991-1G>A are frequently associated with NF1, but association to NFNS has, to our knowledge, not previously been reported. Our results support the notion that NFNS represents a variant of NF1, genetically distinct from NS, and is caused by mutations in NF1, some of which also cause classical NF1. Due to phenotypic overlap between NFNS and NS, we propose screening for NF1 mutations in NS patients, preferentially when café-au-lait spots are present. © 2013 Wiley Periodicals, Inc.

  17. Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

    Science.gov (United States)

    Castori, Marco; Morlino, Silvia; Celletti, Claudia; Ghibellini, Giulia; Bruschini, Michela; Grammatico, Paola; Blundo, Carlo; Camerota, Filippo

    2013-12-01

    Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two clinically overlapping connective tissue disorders characterized by chronic/recurrent pain, joint instability complications, and minor skin changes. Fatigue and headache are also common, although are not yet considered diagnostic criteria. JHS/EDS-HT is a unexpectedly common condition that remains underdiagnosed by most clinicians and pain specialists. This results in interventions limited to symptomatic and non-satisfactory treatments, lacking reasonable pathophysiologic rationale. In this manuscript the fragmented knowledge on pain, fatigue, and headache in JHS/EDS is presented with review of the available published information and a description of the clinical course by symptoms, on the basis of authors' experience. Pathogenic mechanisms are suggested through comparisons with other functional somatic syndromes (e.g., chronic fatigue syndrome, fibromyalgia, and functional gastrointestinal disorders). The re-writing of the natural history of JHS/EDS-HT is aimed to raise awareness among clinical geneticists and specialists treating chronic pain conditions about pain and other complications of JHS/EDS-HT. Symptoms' clustering by disease stage is proposed to investigate both the molecular causes and the symptoms management of JHS/EDS-HT in future studies.

  18. CLINICAL STUDY ON SPLEEN—STOMACH—REINFORCING MOXIBUSTION TREATMENT OF DIARRHEA—TYPE IRRITABLE BOWEL SYNDROME

    Institute of Scientific and Technical Information of China (English)

    吴焕淦; 赵琛; 等

    2002-01-01

    In the present paper,the therapeutic effect of spleen-stomach-reinforcing moxibustion for treatment of irritable bowel syndrome(IBS) is observed and its underlying mechanisms on immunity are analyzed.A total of 72 IBS patients are randomly divided into moxibustion group(n=46)and acupuncture goup(control group,n=26).Acupoints used are Zhongwan(CV12),Qihai(CV6) and Zusanli(ST36).etc.Serum IgG,IgA and IgM contents,blood T-lympocytes(T2+,T4+,T8+)counts,T4+/T8+,cancer embryonic antigen(CEA) content,serum Il-2 and sIL-2R contents are assayed for evaluating changes of the immunocompetence.After two courses of treatment(24 sessions),results show that in moxibustion group,25 cases(54.35%)are cured,17 experience improvement in clinical symptoms and 4 have no apparent changes,with an effective rate of 91.03%;in control group,8 cases(30.78%) are cured,12 experience improvement and 6 have no marked improvement ,with an effective rate of 76.92%.The therapeutic effect of moxibustion is significantly superior to that of acupuncture(P<0.01),In addition,moxibustion can effectively rectify abnormal immune function and stabilize human's immunity,This research provides a reliable experimental basis for clinical application of “principal prescription of moxibustion for reinforcing the spleen and stomach”。KEY WORDS:principal prescription of moxibustion for reinforcing the spleen and stomach Acupuncture therapy Diarrhea-type irritable bowel syndrome.

  19. The type specimen (LB1) of Homo floresiensis did not have Laron syndrome.

    Science.gov (United States)

    Falk, Dean; Hildebolt, Charles; Smith, Kirk; Jungers, William; Larson, Susan; Morwood, Michael; Sutikna, Thomas; Jatmiko; Saptomo, E Wahyu; Prior, Fred

    2009-09-01

    The type specimen (LB1) of Homo floresiensis has been hypothesized to be a pathological human afflicted with Laron Syndrome (LS), a type of primary growth hormone insensitivity (Hershkovitz et al.: Am J Phys Anthropol 134 [2007] 198-208). Comparing measurements, photographs and three-dimensional, computed-tomography reconstructions of LB1 with data and diagnoses from the literature on LS, we critically evaluate numerous skull and postcranial traits that Hershkovitz et al. identified as being shared by LB1 and patients with LS. The statements regarding most of these traits are new to the clinical literature and lack quantitative support. LB1 and patients with LS differ markedly in the size and shape of the cranium; thickness and pneumatization of cranial bones; morphology of the face, mandible, teeth, and chin; form of the shoulder, wrist, and pelvis; and general body proportions including relative foot size. Claims that patients with LS are similar to LB1 in displaying protracted scapulae, short clavicles, low degrees of humeral torsion, flaring ilia, and curved tibiae are not supported by data or corroborating images. Some points of similarity (e.g., femoral neck-shaft angle, femoral bicondylar angle, and estimated stature) can be found in other hominins, and cannot be considered diagnostic. From our review and analysis, we conclude that LB1 did not suffer from LS.

  20. Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Sharma Subodh

    2010-05-01

    Full Text Available Abstract Introduction We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding. The purpose of presenting this case is to highlight the distinctive manifestation of mucopolysaccharidosis type II (Hunter syndrome. Case presentation A 10-year-old East Asian boy presented with abdominal distension of five years' duration and complained of shortness of breath on and off for the same period. On examination his head was large and his head circumference was 54.5 cm. His neck was short, he had coarse facial features, a depressed nasal bridge and small stubby fingers with flexion of distal interphalangeal joints, and a low arched palate was observed. There was mild mental retardation. Conclusion Based on clinical findings and radiological features it is possible to diagnose a case of mucopolysaccharidosis. Careful and systemic approach is needed to accurately diagnose the exact type as enzymatic studies are not available in most centers.

  1. Purkinje Cells as Sources of Arrhythmias in Long QT Syndrome Type 3.

    Science.gov (United States)

    Iyer, Vivek; Roman-Campos, Danilo; Sampson, Kevin J; Kang, Guoxin; Fishman, Glenn I; Kass, Robert S

    2015-08-20

    Long QT syndrome (LQTS) is characterized by ventricular arrhythmias and sudden cardiac death. Purkinje cells (PC) within the specialized cardiac conduction system have unique electrophysiological properties that we hypothesize may produce the primary sources of arrhythmia in heritable LQTS. LQTS type 3 (LQT3) transgenic mice harboring the ΔKPQ(+/-) mutation were crossed with Contactin2-EGFP BAC transgenic mice, which express a fluorescent reporter gene within the Purkinje fiber network. Isolated ventricular myocytes (VMs) (EGFP(-)) and PCs (EGFP(+)) from wild type and ΔKPQ mutant hearts were compared using the whole-cell patch clamp technique and microfluorimetry of calcium transients. Increased late sodium current was seen in ΔKPQ-PCs and ΔKPQ-VMs, with larger density in ΔKPQ-PCs. Marked prolongation of action potential duration of ΔKPQ-PCs was seen compared to ΔKPQ-VMs. ΔKPQ-PCs, but not ΔKPQ-VMs, exhibited frequent early afterdepolarizations, which corresponded to repetitive oscillations of intracellular calcium. Abnormalities in cell repolarization were reversed with exposure to mexiletine. We present the first direct experimental evidence that PCs are uniquely sensitive to LQT3 mutations, displaying electrophysiological behavior that is highly pro-arrhythmic.

  2. Open angle glaucoma in a case of Type IV Ehler Danlos syndrome: A rarely reported association

    Directory of Open Access Journals (Sweden)

    Arijit Mitra

    2014-01-01

    Full Text Available A 26-year-old male presented to us with defective vision in the left eye. He had best corrected visual acuity (BCVA of hand movement (HM in right eye and 6/9 in left eye. He had ptosis with ectropion in both eyes and relative afferent pupillary defect (RAPD in right eye. Intraocular pressure (IOP was 46 and 44 mmHg in right and left eye, respectively. Fundus showed glaucomatous optic atrophy (GOA in right eye and cup disc ratio (CDR of 0.75 with bipolar rim thinning in left eye. Systemic examination showed hyperextensible skin and joints, acrogeria, hypodontia, high arched palate, and varicose veins. He gave history of easy bruising and tendency to fall and history of intestinal rupture 5 years ago for which he had undergone surgery. He was diagnosed as a case of Type IV Ehler-Danlos syndrome (EDS with open angle glaucoma. He underwent trabeculectomy in both eyes. This is a rare case that shows glaucoma in a patient of EDS Type IV. Very few such cases have been reported in literature.

  3. Open angle glaucoma in a case of Type IV Ehler Danlos syndrome: a rarely reported association.

    Science.gov (United States)

    Mitra, Arijit; Ramakrishnan, R; Kader, Mohideen Abdul

    2014-08-01

    A 26-year-old male presented to us with defective vision in the left eye. He had best corrected visual acuity (BCVA) of hand movement (HM) in right eye and 6/9 in left eye. He had ptosis with ectropion in both eyes and relative afferent pupillary defect (RAPD) in right eye. Intraocular pressure (IOP) was 46 and 44 mmHg in right and left eye, respectively. Fundus showed glaucomatous optic atrophy (GOA) in right eye and cup disc ratio (CDR) of 0.75 with bipolar rim thinning in left eye. Systemic examination showed hyperextensible skin and joints, acrogeria, hypodontia, high arched palate, and varicose veins. He gave history of easy bruising and tendency to fall and history of intestinal rupture 5 years ago for which he had undergone surgery. He was diagnosed as a case of Type IV Ehler-Danlos syndrome (EDS) with open angle glaucoma. He underwent trabeculectomy in both eyes. This is a rare case that shows glaucoma in a patient of EDS Type IV. Very few such cases have been reported in literature.

  4. Three novel obese indicators perform better in monitoring management of metabolic syndrome in type 2 diabetes.

    Science.gov (United States)

    Ma, Chun-Ming; Lu, Na; Wang, Rui; Liu, Xiao-Li; Lu, Qiang; Yin, Fu-Zai

    2017-08-29

    The present study evaluated the performance of three novel obese indicators, visceral adiposity index (VAI), lipid accumulation product (LAP) and waist circumference-triglyceride index (WTI), for identifying metabolic syndrome(MetS) in type 2 diabetes. A cross-sectional study was conducted on 711 type 2 diabetes in Qinhuangdao. The MetS was defined as the definition of Chinese Diabetes Society. Receiver operating characteristic curve analyses were performed to assess the accuracy of three obese indicators as diagnostic tests for MetS. The prevalence of MetS was 71.3%. In men, among all three obese indicators, the LAP had the highest area under curve (AUC) value (AUC = 0.894), followed by VAI (AUC = 0.860) and WTI (AUC = 0.855). In women, among all three obese indicators, the LAP had the highest AUC value (AUC = 0.906), followed by WTI (AUC = 0.887) and VAI (AUC = 0.881). However. there was no significant difference between the three obese indicators(P > 0.05). Three obese indicators were effective indicators for the screening of MetS, LAP and WTI are more simple.

  5. Spontaneous Colon Perforations Associated with a Vascular Type of Ehlers-Danlos Syndrome

    Directory of Open Access Journals (Sweden)

    Akira Yoneda

    2014-05-01

    Full Text Available Ehlers-Danlos syndrome, vascular type (vEDS (MIM #130050 is an autosomal dominant disorder caused by mutation in the type III collagen gene, COL3A1, leading to fragility of blood vessels, bowel and uterus that leads to spontaneous rupture. We report a previously undiagnosed vEDS patient with bowel complications. A 20-year-old female patient was referred to our hospital with abdominal pain. Computed tomography showed notable dilatation of the sigmoid colon with intraperitoneal fluid. Laparotomy revealed dilatation of the sigmoid colon, breakdown of serosa and muscularis propria of the sigmoid colon with impending perforation, and intra-abdominal hemorrhage caused by breakdown of the mesenterium. Resection of the sigmoid colon with Hartmann's pouch and an end colostomy were performed. Physical examination showed joint hypermobility, translucent skin with venous prominence and facial structure abnormalities. Genetic analysis using cDNA extracted from the patient's fibroblasts by reverse transcriptase polymerase chain reaction direct sequencing showed a missense mutation within the triple helix region of COL3A1 (c.2150 G>A; Gly717Asp.

  6. Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI

    Energy Technology Data Exchange (ETDEWEB)

    Steinmann, B.; Eyre, D.R.; Shao, P. [Univ. Children`s Hospital, Zurich (Switzerland)]|[Univ. of Washington, Seattle, WA (United States)

    1995-12-01

    The Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable disorders of connective tissue, affecting skin, ligaments, joints, blood vessels, and internal organs. The main general findings are hyperextensibility and bruisability of the skin, with abnormal scarring, and joint laxity. On the basis of clinical, genetic, and biochemical findings, EDS can be classified today into at least 10 different types. Among them, EDS type VI (MIM 225400) is characterized by marked muscular hypotonia from birth; kyphoscoliosis, often present at birth and progressing to a severe form; marfanoid habitus; eye involvement, often with microcornea and a tendency of the eyeballs to rupture after minor trauma; osteoporosis; and sometimes spontaneous rupture of arteries. The disorder is due to a deficiency of lysyl hydroxylase (E.C.1.14.11.4), inherited in an autosomal recessive mode. Traditionally, the clinical diagnosis is confirmed by an insufficiency of hydroxylysine, on analysis of hydrolyzed dermis and/or reduced enzyme activity in cultured skin fibroblasts. 12 refs., 1 tab.

  7. A case of severe type of cerebro-costo-mandibular syndrome

    Directory of Open Access Journals (Sweden)

    Matić Aleksandra

    2016-01-01

    Full Text Available Introduction. Cerebro-costo-mandibular syndrome (CCMS is a rare disorder, with only 75 cases described in the literature to date. CCMS is characterized by association of micrognathia and specific multiple rib defects. It is accompanied by mental deficiency in considerable number of cases. Sometimes, there are associated anomalies and problems, such as spine deformities, brain, heart, kidney or ear anomalies, feeding difficulties, delayed psychomotor development, and growth impairment. Depending on severity of deformities and consecutive respiratory insufficiency, in about 35-50% of CCMS cases, death occurs during the first year of life. These cases are referred to as severe types of CCMS. Case Outline. In this paper we present a female infant with severe type of CCMS. Diagnosis was established in the first day of life, based on micrognathia and findings of posterior rib-gap defects on the chest X-ray, accompanied by dyspnea. Progressive severe respiratory insufficiency caused by chest and air-way deformities and exacerbated by episodes of pneumonia, led to respiratory failure and death at the age of 7.5 months. Conclusion. CCMS should be considered in every infant with micrognathia and rib-gap defects on chest X-ray.

  8. Haemorrhagic bowel syndrome in dairy cattle: possible role of Clostridium perfringens type A in the disease complex.

    Science.gov (United States)

    Ceci, L; Paradies, P; Sasanelli, M; de Caprariis, D; Guarda, F; Capucchio, M T; Carelli, G

    2006-12-01

    A survey based on clinical, pathological and microbiological investigations was performed on 11 Brown Swiss cattle affected with depression, anorexia, agalaxia, ruminal hypomotility, abdominal pain and melaena. In eight animals, macroscopical lesions consisted in haemorrhagic enteritis in the small intestine. Seven of eight isolates from tissue samples were identified as Clostridum perfringens type A, and four were identified as C. perfringens type A with the beta2 toxin gene. Based on these observations, animals were considered affected with haemorrhagic bowel syndrome.

  9. Physiotherapy for pain and disability in adults with complex regional pain syndrome (CRPS) types I and II

    OpenAIRE

    2016-01-01

    Background   Complex regional pain syndrome (CRPS) is a painful and disabling condition that usually manifests in response to trauma or surgery. When it occurs, it is associated with significant pain and disability. It is thought to arise and persist as a consequence of a maladaptive pro-inflammatory response and disturbances in sympathetically-mediated vasomotor control, together with maladaptive peripheral and central neuronal plasticity. CRPS can be classified into two types: type I (CRPS ...

  10. Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report

    Directory of Open Access Journals (Sweden)

    Kashizaki Fumihiro

    2013-02-01

    Full Text Available Abstract Introduction Vascular-type Ehlers-Danlos syndrome is an autosomal dominant disease that causes arterial spurting, intestinal perforation, uterine rupture and hemopneumothorax due to decreased production of type III collagen. The average age at death is 48 years old, and it is considered to be the most severe form of Ehlers-Danlos syndrome. We report the case of a 64-year-old Japanese woman and her 38-year-old daughter who were diagnosed with this disease. Case presentation A 64-year-old Japanese woman was referred to our hospital because of right anterior chest pain following cough and pharyngeal discomfort. Pleurisy was suspected due to the presence of right pleural effusion, so the next day she was referred to our department, where a detailed examination led to the diagnosis of hemothorax. The bleeding that caused the right hemothorax was difficult to control, so our patient was transferred to the Department of Thoracic Surgery for hemostasis control. Our patient’s personal history of uterine hemorrhage and skin ulcers, as well as the finding of skin fragility during surgery, were indicative of a weak connective tissue disease; therefore, after improvement of the hemothorax, a genetic analysis was performed. This revealed a heterozygous missense mutation in COL3A1, c.2411 G>T p.Gly804Val (exon 36. A detailed investigation conducted at a later date revealed that her daughter also had the same genetic mutation. This led to the diagnosis of vascular-type Ehlers-Danlos syndrome characterized by a new gene mutation. Conclusion We report a new genetic mutation associated with vascular-type Ehlers-Danlos syndrome. We present the clinical and imaging findings, and the disease and treatment course in this patient. We believe this information will be important in treating future cases of vascular-type Ehlers-Danlos syndrome in patients with this mutation.

  11. Juvenile Polyposis Syndrome

    Science.gov (United States)

    ... Types of Cancer > Juvenile Polyposis Syndrome Request Permissions Juvenile Polyposis Syndrome Approved by the Cancer.Net Editorial Board , 12/2015 What is juvenile polyposis syndrome? Juvenile polyposis syndrome (JPS) is a ...

  12. The Prevalence of Metabolic Syndrome According to Different Criteria and its Associated Factors in Type 2 Diabetic Patients in Kerman, Iran

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    Zohre Foroozanfar

    2015-11-01

    Full Text Available Metabolic syndrome is highly prevalent in type 2 diabetics and is a strong risk factor for cardiovascular diseases in such patients. The aim of this study was to determine the prevalence of metabolic syndrome according to the three criteria of ATPIII, IDF and the new criteria for metabolic syndrome diagnosis in Kerman, Iran. This cross-sectional study was performed on 950 diabetic type 2 patients. Data was analyzed by independent t-test, chi-square and logistic regression using the SPSS (revision 20 software. The prevalence of metabolic syndrome in Kerman was 73.4, 64.9, and 70.4%, according to the above criteria. Fasting blood sugar, gender, triglyceride, HDL, waist circumference, and systolic blood pressure were related to the prevalence of metabolic syndrome according to the above-mentioned criteria. The prevalence of metabolic syndrome is high in type 2 diabetic patients and the above-mentioned factors exacerbate the situation.

  13. Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature

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    Wolfe John

    2011-06-01

    Full Text Available Abstract Introduction Colonoscopic perforation is a rare but serious complication of colonoscopy. Factors known to increase the risk of perforation include colonic strictures, extensive diverticulosis, and friable tissues. We describe the case of a man who was found to have perforation of the sigmoid colon secondary to an undiagnosed connective tissue disorder (Ehlers-Danlos syndrome type IV while undergoing surveillance for hereditary non-polyposis colorectal cancer. Case presentation A 33-year-old Caucasian man presented to our hospital with an acute abdomen following a colonoscopy five days earlier as part of hereditary non-polyposis colorectal cancer screening. His medical history included bilateral clubfoot. His physical examination findings suggested left iliac fossa peritonitis. A computed tomographic scan revealed perforation of the sigmoid colon and incidentally a right common iliac artery aneurysm as well. Hartmann's procedure was performed during laparotomy. The patient recovered well post-operatively and was discharged. Reversal of the Hartmann's procedure was performed six months later. This procedure was challenging because of dense adhesions and friable bowel. The histology of bowel specimens from this surgery revealed thinning and fibrosis of the muscularis externa. The patient was subsequently noted to have transparency of truncal skin with easily visible vessels. An underlying collagen vascular disorder was suspected, and genetic testing revealed a mutation in the collagen type III, α1 (COL3A1 gene, which is consistent with a diagnosis of Ehlers-Danlos syndrome type IV. Conclusions Ehlers-Danlos syndrome type IV, the vascular type, is a rare disorder caused by mutations in the COL3A1 gene on chromosome 2q31. It is characterized by translucent skin, clubfoot, and the potentially fatal complications of spontaneous large vessel rupture, although spontaneous uterine and colonic perforations have also been reported in the

  14. A Type A and Type D Combined Personality Typology in Essential Hypertension and Acute Coronary Syndrome Patients: Associations with Demographic, Psychological, Clinical, and Lifestyle Indicators.

    Science.gov (United States)

    Steca, Patrizia; D'Addario, Marco; Magrin, Maria Elena; Miglioretti, Massimo; Monzani, Dario; Pancani, Luca; Sarini, Marcello; Scrignaro, Marta; Vecchio, Luca; Fattirolli, Francesco; Giannattasio, Cristina; Cesana, Francesca; Riccobono, Salvatore Pio; Greco, Andrea

    2016-01-01

    Many studies have focused on Type A and Type D personality types in the context of cardiovascular diseases (CVDs), but nothing is known about how these personality types combine to create new profiles. The present study aimed to develop a typology of Type A and Type D personality in two groups of patients affected by and at risk for coronary disease. The study involved 711 patients: 51.6% with acute coronary syndrome, 48.4% with essential hypertension (mean age = 56.4 years; SD = 9.7 years; 70.7% men). Cluster analysis was applied. External variables, such as socio-demographic, psychological, lifestyle, and clinical parameters, were assessed. Six groups, each with its own unique combined personality profile scores, were identified: Type D, Type A-Negatively Affected, Not Type A-Negatively Affected, Socially Inhibited-Positively Affected, Not Socially Inhibited, and Not Type A-Not Type D. The Type A-Negatively Affected cluster and, to a lesser extent, the Type D cluster, displayed the worst profile: namely higher total cardiovascular risk index, physical inactivity, higher anxiety and depression, and lower self-esteem, optimism, and health status. Identifying combined personality profiles is important in clinical research and practice in cardiovascular diseases. Practical implications are discussed.

  15. Complex Regional Pain Syndrome (CRPS Type II After Carpal Tunnel Release Surgery: Case Report

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    Hakan Tunç

    2010-08-01

    Full Text Available Summary Complex regional pain syndrome is a chronic syndrome characterised with dystrophic changes and neurovascular disordes of bone and skin of extremities. The most common etiological factors are trauma, ischemic heart disease, cerebral lesions, servical region disorders, infections, and surgical treatments. Carpal tunnel syndrome is the most common compressive neuropaty of the upper extremity. There are various surgical and conservative alternatives in the treatment of carpal tunnel syndrome. Complex regional pain syndrome has been reported as a complication of surgical carpal tunnel release in 2-5% of patients. In this case report clinical characteristics and rehabilitation outcomes of a patient with complex regional pain syndrome after carpal tunnel release surgery is presented. (Osteoporoz Dünyasından 2010;16:41-3

  16. Effects of carpal tunnel syndrome on dexterous manipulation are grip type-dependent.

    Science.gov (United States)

    Zhang, Wei; Johnston, Jamie A; Ross, Mark A; Sanniec, Kyle; Gleason, Elizabeth A; Dueck, Amylou C; Santello, Marco

    2013-01-01

    Carpal tunnel syndrome (CTS) impairs sensation of a subset of digits. Although the effects of CTS on manipulation performed with CTS-affected digits have been studied using precision grip tasks, the extent to which CTS affects multi-digit force coordination has only recently been studied. Whole-hand manipulation studies have shown that CTS patients retain the ability to modulate multi-digit forces to object mass, mass distribution, and texture. However, CTS results in sensorimotor deficits relative to healthy controls, including significantly larger grip force and lower ability to balance the torques generated by the digits. Here we investigated the effects of CTS on multi-digit force modulation to object weight when manipulating an object with a variable number of fingers. We hypothesized that CTS patients would be able to modulate digit forces to object weight. However, as different grip types involve the exclusive use of CTS-affected digits ('uniform' grips) or a combination of CTS-affected and non-affected digits ('mixed' grips), we addressed the question of whether 'mixed' grips would reduce or worsen CTS-induced force coordination deficits. The former scenario would be due to adding digits with intact tactile feedback, whereas the latter scenario might occur due to a potentially greater challenge for the central nervous system of integrating 'noisy' and intact tactile feedback. CTS patients learned multi-digit force modulation to object weight regardless of grip type. Although controls exerted the same total grip force across all grip types, patients exerted significantly larger grip force than controls but only for manipulations with four and five digits. Importantly, this effect was due to CTS patients' inability to change the finger force distribution when adding the ring and little fingers. These findings suggest that CTS primarily challenges sensorimotor integration processes for dexterous manipulation underlying the coordination of CTS-affected and non

  17. Effects of carpal tunnel syndrome on dexterous manipulation are grip type-dependent.

    Directory of Open Access Journals (Sweden)

    Wei Zhang

    Full Text Available Carpal tunnel syndrome (CTS impairs sensation of a subset of digits. Although the effects of CTS on manipulation performed with CTS-affected digits have been studied using precision grip tasks, the extent to which CTS affects multi-digit force coordination has only recently been studied. Whole-hand manipulation studies have shown that CTS patients retain the ability to modulate multi-digit forces to object mass, mass distribution, and texture. However, CTS results in sensorimotor deficits relative to healthy controls, including significantly larger grip force and lower ability to balance the torques generated by the digits. Here we investigated the effects of CTS on multi-digit force modulation to object weight when manipulating an object with a variable number of fingers. We hypothesized that CTS patients would be able to modulate digit forces to object weight. However, as different grip types involve the exclusive use of CTS-affected digits ('uniform' grips or a combination of CTS-affected and non-affected digits ('mixed' grips, we addressed the question of whether 'mixed' grips would reduce or worsen CTS-induced force coordination deficits. The former scenario would be due to adding digits with intact tactile feedback, whereas the latter scenario might occur due to a potentially greater challenge for the central nervous system of integrating 'noisy' and intact tactile feedback. CTS patients learned multi-digit force modulation to object weight regardless of grip type. Although controls exerted the same total grip force across all grip types, patients exerted significantly larger grip force than controls but only for manipulations with four and five digits. Importantly, this effect was due to CTS patients' inability to change the finger force distribution when adding the ring and little fingers. These findings suggest that CTS primarily challenges sensorimotor integration processes for dexterous manipulation underlying the coordination of CTS

  18. Results of Surgery in Patients with type 1 Duane’s Retraction Syndrome

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    Seren Pehlivanoğlu

    2011-06-01

    Full Text Available Purpose: To assess the results of surgery techniques used in Duane’s retraction syndrome (DRS type 1. Material and Method: 194 DRS cases followed in the department of strabismus were retrospectively investigated. We assessed 58 cases operated for esotropic DRS type 1 in terms of pre- and post-operative deviations in primary position, abnormal head posture (AHP, abduction deficiency, globe retraction, and up-down shoot. The cases were divided into 3 groups according to the surgical technique applied. The mean follow-up period was 22.4±4.6 (1-13 years months. Results: The cases in group 1 had undergone uni- or bilateral medial rectus (MR recession, and the postoperative 1stmonth improvement rates for distance deviation, near deviation and AHP were 68.6%, 73.9% and 50%, respectively. These rates were 69.3%, 64.7% and 57.1%, respectively in group 2 which consisted of eyes that had undergone vertical rectus muscle transposition (VRT surgery. In group 3, in which we had performed Y-split (with or without LR/MR recession surgery, the improvement rates for distance and near deviation were 63.6% and 63.9%, and 50% was determined for AHP. The improvement in globe retraction was 60% in group 1 and 66.6% in group 3. Discussion: Medial rectus muscle recession was more effective for correction of deviation and AHP in cases of DRS type 1. VRT was found to be more effective surgical option in abduction deficiency. Y-split surgery has an important place in eliminating globe retraction and up/down shoot. (Turk J Ophthalmol 2011; 41: 156-63

  19. Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.

    Directory of Open Access Journals (Sweden)

    Alejandro García Castaño

    Full Text Available The p.Ala204Thr mutation (exon 7 of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic analysis of the CLCNKB gene, which encodes for the chloride channel protein ClC-Kb, in a cohort of 26 affected patients from 23 families. The diagnostic algorithm was: first, detection of the p.Ala204Thr mutation; second, detecting large deletions or duplications by Multiplex Ligation-dependent Probe Amplification and Quantitative Multiplex PCR of Short Fluorescent Fragments; and third, sequencing of the coding and flanking regions of the whole CLCNKB gene. In our genetic diagnosis, 20 families presented with the p.Ala204Thr mutation. Of those, 15 patients (15 families were homozygous (57.7% of overall patients. Another 8 patients (5 families were compound heterozygous for the founder mutation together with a second one. Thus, 3 patients (2 siblings presented with the c. -19-?_2053+? del deletion (comprising the entire gene; one patient carried the p.Val170Met mutation (exon 6; and 4 patients (3 siblings presented with the novel p.Glu442Gly mutation (exon 14. On the other hand, another two patients carried two novel mutations in compound heterozygosis: one presented the p.Ile398_Thr401del mutation (exon 12 associated with the c. -19-?_2053+? del deletion, and the other one carried the c.1756+1G>A splice-site mutation (exon 16 as well as the already described p.Ala210Val change (exon 7. One case turned out to be negative in our genetic screening. In addition, 51 relatives were found to be heterozygous carriers of the described CLCNKB mutations. In conclusion, different mutations cause type III Bartter syndrome in Spain. The high prevalence of the p.Ala204Thr in Spanish families thus justifies an initial screen for this mutation. However, should it not be detected further investigation of the CLCNKB gene is warranted in clinically diagnosed families.

  20. Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm

    Science.gov (United States)

    García Castaño, Alejandro; Pérez de Nanclares, Gustavo; Madariaga, Leire; Aguirre, Mireia; Madrid, Alvaro; Nadal, Inmaculada; Navarro, Mercedes; Lucas, Elena; Fijo, Julia; Espino, Mar; Espitaletta, Zilac; Castaño, Luis; Ariceta, Gema

    2013-01-01

    The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic analysis of the CLCNKB gene, which encodes for the chloride channel protein ClC-Kb, in a cohort of 26 affected patients from 23 families. The diagnostic algorithm was: first, detection of the p.Ala204Thr mutation; second, detecting large deletions or duplications by Multiplex Ligation-dependent Probe Amplification and Quantitative Multiplex PCR of Short Fluorescent Fragments; and third, sequencing of the coding and flanking regions of the whole CLCNKB gene. In our genetic diagnosis, 20 families presented with the p.Ala204Thr mutation. Of those, 15 patients (15 families) were homozygous (57.7% of overall patients). Another 8 patients (5 families) were compound heterozygous for the founder mutation together with a second one. Thus, 3 patients (2 siblings) presented with the c. -19-?_2053+? del deletion (comprising the entire gene); one patient carried the p.Val170Met mutation (exon 6); and 4 patients (3 siblings) presented with the novel p.Glu442Gly mutation (exon 14). On the other hand, another two patients carried two novel mutations in compound heterozygosis: one presented the p.Ile398_Thr401del mutation (exon 12) associated with the c. -19-?_2053+? del deletion, and the other one carried the c.1756+1G>A splice-site mutation (exon 16) as well as the already described p.Ala210Val change (exon 7). One case turned out to be negative in our genetic screening. In addition, 51 relatives were found to be heterozygous carriers of the described CLCNKB mutations. In conclusion, different mutations cause type III Bartter syndrome in Spain. The high prevalence of the p.Ala204Thr in Spanish families thus justifies an initial screen for this mutation. However, should it not be detected further investigation of the CLCNKB gene is warranted in clinically diagnosed families. PMID:24058621

  1. Dental findings in Saethre-Chotzen syndrome (acrocephalosyndactyly type III): report of case.

    Science.gov (United States)

    Goho, C

    1998-01-01

    Saethre-Chotzen syndrome is characterized primarily by facial and digital anomalies. This case report describes multiple dental anomalies in a patient with Saethre-Chotzen, not reported in previous descriptions of the syndrome. These features are teeth with broad, bulbous crowns, thin, narrow tapering roots, and diffuse pulp stones in the pulp chambers of all posterior teeth. These dental findings, along with being associated with the syndrome, may influence dental care for these patients.

  2. Polyglandular Syndrome Type III and Severe Peripheral Neuropathy: An Unusual Association

    Directory of Open Access Journals (Sweden)

    Arthur Wagner Pimentel de Sousa

    2015-01-01

    Conclusion: The importance of suspecting on polyglandular syndrome in the presence of autoimmune frameworks is important, especially those involving diabetes, thyroiditis, atrophic gastritis, pernicious anemia, vitiligo, among others.

  3. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

    National Research Council Canada - National Science Library

    Malfait, Fransiska; Wenstrup, Richard J; De Paepe, Anne

    2010-01-01

    Classic Ehlers-Danlos syndrome is a heritable connective tissue disorder characterized by skin hyperextensibility, fragile and soft skin, delayed wound healing with formation of atrophic scars, easy...

  4. Study the Prevalence of Polycystic Ovarian Syndrome in Women with Type 2 Diabetes Referring to Kerman Diabetes Clinic

    Directory of Open Access Journals (Sweden)

    F. Mirzaie

    Full Text Available Introduction & Objective: Polycystic ovary syndrome (PCOS is a heterogeneous disorder that affects 5-10% of women of reproductive age patients with this syndrome one of the high risk groups for type 2 diabetes mellitus in future. This study was carried out to determine the prevalence of PCOS in patients with type 2 diabetes mellitus. Materials & Methods: One hundred women under 45 years with type 2 diabetes treating with diet or hypoglycemic drugs, referred to Kerman diabetic center in 2005 were identified. Women with galactorrhea or history of thyroid dysfunction were excluded from the study. Data were collected through interview and then data of 92 women were analyzed using t-test and x2. Results: Ninety two women enrolled in the study and 18 cases (19.5% had clinical symptoms of PCOS. The mean of age was 38 years (38.76±5.92 years. The mean age of women with PCOS was 34 and that of normal women was 39 years (P0.05. Conclusion: This study indicated women with type 2 diabetes mellitus had a higher prevalence of polycystic syndrome. Android obesity is associated with the increased risk of type 2 diabetes in women with PCOS.

  5. Study the Prevalence of Polycystic Ovarian Syndrome in Women with Type 2 Diabetes Referring to Kerman Diabetes Clinic

    Directory of Open Access Journals (Sweden)

    Fatemeh Mirzaie

    2008-03-01

    Full Text Available Introduction & Objective: Polycystic ovary syndrome (PCOS is a heterogeneous disorder that affects 5-10% of women of reproductive age patients with this syndrome one of the high risk groups for type 2 diabetes mellitus in future. This study was carried out to determine the prevalence of PCOS in patients with type 2 diabetes mellitus. Materials & Methods: One hundred women under 45 years with type 2 diabetes treating with diet or hypoglycemic drugs, referred to Kerman diabetic center in 2005 were identified. Women with galactorrhea or history of thyroid dysfunction were excluded from the study. Data were collected through interview and then data of 92 women were analyzed using t-test and x2. Results: Ninety two women enrolled in the study and 18 cases (19.5% had clinical symptoms of PCOS. The mean of age was 38 years (38.76±5.92 years. The mean age of women with PCOS was 34.89±3.96 and that of normal women was 39.7±5.96 years (P0.05. Conclusion: This study indicated women with type 2 diabetes mellitus had a higher prevalence of polycystic syndrome. Android obesity is associated with the increased risk of type 2 diabetes in women with PCOS.

  6. Perioperative outcomes of syndromic paraganglioma and pheochromocytoma resection in patients with von Hippel-Lindau disease, multiple endocrine neoplasia type 2, or neurofibromatosis type 1.

    Science.gov (United States)

    Butz, James J; Yan, Qi; McKenzie, Travis J; Weingarten, Toby N; Cavalcante, Alexandre N; Bancos, Irina; Young, William F; Schroeder, Darrell R; Martin, David P; Sprung, Juraj

    2017-09-14

    Pheochromocytoma and/or paraganglioma associated with neurofibromatosis type 1, multiple endocrine neoplasia type 2A, and von Hippel-Lindau disease have different catecholamine biochemical phenotypes. We examined perioperative outcomes of pheochromocytoma/paraganglioma resection in 3 syndromic forms. Retrospective review of patients undergoing resection of syndromic pheochromocytoma/paraganglioma from 2000 through 2016. Eighty-one patients underwent pheochromocytoma/paraganglioma resection (multiple endocrine neoplasia type 2A, n = 36; neurofibromatosis type 1, n = 26; von Hippel-Lindau disease, n = 19). Tumor size differed across groups; patients with neurofibromatosis type 1 and von Hippel-Lindau disease had the largest tumors (P = .017). Larger tumor volumes correlated with higher urine 24-hour total metanephrine (r = 0.94, P < .001; r = 0.67, P = .033; and r = 0.89, P < .001 for multiple endocrine neoplasia type 2A, von Hippel-Lindau disease, and neurofibromatosis type 1, respectively). High adrenergic secretion (24-hour urine metanepinephrine) was found in neurofibromatosis type 1 (median, 861 μg/24 h), similar to that found in multiple endocrine neoplasia type 2A (median, 809 μg/24 h). The highest noradrenergic secretion (24-hour urine normetanephrine) occurred with von Hippel-Lindau disease (median, 4,598 μg/24 h), followed by neurofibromatosis type 1 and multiple endocrine neoplasia type 2A (median, 1,607 and 923 μg/24 h, respectively). The highest graded complications occurred among patients with neurofibromatosis type 1 (P = .036). However, when comparing postoperative outcomes across 3 groups in those who had laparoscopic resection, there was no significant difference (P = .955). Patients with neurofibromatosis type 1 had the most volatile intraoperative hemodynamic course and more severe postoperative complications. These complications are related to large tumors associated with abundant catecholamine secretion and the fact that a high

  7. A case of familial paraganglioma syndrome type 4 caused by a mutation in the SDHB gene.

    Science.gov (United States)

    Drucker, Aaron M; Houlden, Robyn L

    2006-12-01

    A 40-year-old man was referred to our clinic with recurrent paragangliomas. He had undergone resection of a paraganglioma superior to the right adrenal gland at 19 years of age, resection of two para-aortic paragangliomas at 39 years of age, and resection of a paraganglioma in the interatrial septum at 40 years. The patient's mother had died at age 39 years of metastases from a carotid body tumor. MRI and CT scanning, 131I-labeled metaiodobenzylguanidine scanning, and genetic testing for a mutation in the succinate dehydrogenase complex, subunit B gene. Familial paraganglioma syndrome type 4 caused by a mutation in the succinate dehydrogenase complex, subunit B gene. The patient underwent two surgical procedures in our clinic. The first was to remove two para-aortic paragangliomas, and the second to remove a paraganglioma that involved both atria. The patient is at high risk for malignant disease and should undergo an annual monitoring program that consists of physical examination and measurement of his blood pressure and levels of urinary catecholamines and metanephrines. If these procedures suggest a recurrence of paraganglioma, 123I-labeled metaiodobenzylguanidine scanning should be performed. As he might develop nonfunctional tumors, however, he should also undergo CT scanning, MRI scanning, or both, of the neck, thorax, abdomen, and pelvis every 6-12 months. Genetic testing has been offered to family members.

  8. Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux–Lamy syndrome)

    Science.gov (United States)

    Giraldo, Gustavo Adolfo; Ayala-Ramírez, Paola; Prieto, Juan Carlos; García-Robles, Reggie; Acosta, Johanna Carolina

    2015-01-01

    Introduction Maroteaux–Lamy syndrome, or mucopolysaccharidosis (MPS) type VI, is an autosomal recessive lysosomal storage disease caused by a deficient activity of the enzyme arylsulfatase B (ARSB), required to degrade dermatan sulfate. The onset and progression of the disease vary, producing a spectrum of clinical presentation. So far, 133 mutations have been reported. The aim of this study is to determine the mutations in the ARSB gene that are responsible for this disease in Colombian patients. Results Fourteen patients with clinical manifestations and biochemical diagnosis of MPS VI were studied, including two siblings. The 8 exons of the gene were directly sequenced from patients' DNA, and 14 mutations were found. 57% of these mutations had not been previously reported (p.H111P, p.C121R, p.G446S, p.*534W, p.S334I, p.H147P, c.900T > G, and c.1531_1553del) and 43% had been previously reported (p.G144R, p.W322*, p.G302R, p.C447F, p.L128del, and c.1143-1G > C). Of the previously reported mutations, 80% have been associated with severe phenotypes and 20% with intermediate-severe phenotypes. Bioinformatic predictions indicate that the new mutations reported in this paper are also highly deleterious. Conclusions Most of the Colombian patients in this study had private mutations. PMID:26909334

  9. [Accurate detection of a case with Angelman syndrome (type 1) using SNP array].

    Science.gov (United States)

    Shi, Shanshan; Lin, Shaobin; Liao, Yanfen; Li, Weijing

    2016-12-10

    To analyze a case with Angelman syndrome (AS) using single nucleotide polymorphism array (SNP array) and explore its genotype-phenotype correlation. G-banded karyotyping and SNP array were performed on a child featuring congenital malformations, intellectual disability and developmental delay. Mendelian error checking based on the SNP information was used to delineate the parental origin of detected abnormality. Result of the SNP array was validated with fluorescence in situ hybridization (FISH). The SNP array has detected a 6.053 Mb deletion at 15q11.2q13.1 (22,770,421- 28,823,722) which overlapped with the critical region of AS (type 1). The parents of the child showed no abnormal results for G-banded karyotyping, SNP array and FISH analysis, indicating a de novo origin of the deletion. Mendelian error checking based on the SNP information suggested that the 15q11.2q13.1 deletion was of maternal origin. SNP array can accurately define the size, location and parental origin of chromosomal microdeletions, which may facilitate the diagnosis of AS due to 15q11q13 deletion and better understanding of its genotype-phenotype correlation.

  10. Alveolar type II epithelial cell dysfunction in rat experimental hepatopulmonary syndrome (HPS.

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    Wenli Yang

    Full Text Available The hepatopulmonary syndrome (HPS develops when pulmonary vasodilatation leads to abnormal gas exchange. However, in human HPS, restrictive ventilatory defects are also observed supporting that the alveolar epithelial compartment may also be affected. Alveolar type II epithelial cells (AT2 play a critical role in maintaining the alveolar compartment by producing four surfactant proteins (SPs, SP-A, SP-B, SP-C and SP-D which also facilitate alveolar repair following injury. However, no studies have evaluated the alveolar epithelial compartment in experimental HPS. In this study, we evaluated the alveolar epithelial compartment and particularly AT2 cells in experimental HPS induced by common bile duct ligation (CBDL. We found a significant reduction in pulmonary SP production associated with increased apoptosis in AT2 cells after CBDL relative to controls. Lung morphology showed decreased mean alveolar chord length and lung volumes in CBDL animals that were not seen in control models supporting a selective reduction of alveolar airspace. Furthermore, we found that administration of TNF-α, the bile acid, chenodeoxycholic acid, and FXR nuclear receptor activation (GW4064 induced apoptosis and impaired SP-B and SP-C production in alveolar epithelial cells in vitro. These results imply that AT2 cell dysfunction occurs in experimental HPS and is associated with alterations in the alveolar epithelial compartment. Our findings support a novel contributing mechanism in experimental HPS that may be relevant to humans and a potential therapeutic target.

  11. Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP).

    Science.gov (United States)

    Francoual, Jeanne; Trioche, Pascale; Mokrani, Chahnez; Seboui, Hassen; Khrouf, Naïma; Chalas, Jacqueline; Clement, Marina; Capel, Liliane; Tachdjian, Gérard; Labrune, Philippe

    2002-10-01

    Crigler-Najjar syndrome type I (CN-I) is a rare and severe inherited disorder of bilirubin metabolism, caused by the total deficiency of bilirubin-UDP-glucuronosyltransferase (UGT) activity. Enzymatic diagnosis cannot be performed in chorionic villi or amniocytes as UGT is not active in these tissues. The cloning of the UGT1 gene and the identification of disease-causing mutations have led to the possibility of performing DNA-based diagnosis. Here we report DNA-based prenatal diagnosis of CN-I in two Tunisian families in whom CN-I patients were diagnosed. As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis. In both cases, SSCP analysis of fetal DNA showed that the fetus was heterozygous for the Q357R mutation. In one family, the pregnancy was carried to term and a healthy baby was born, whereas, in the other family, the pregnancy is still continuing. Thus the prenatal diagnosis of CN-I is possible, provided disease-causing mutations have been identified. SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis.

  12. CLINICAL RESEARCH ON MOXIBUSTION TREATMENT OF DIARREHEA TYPE IRRITABLE BOWEL SYNDROME

    Institute of Scientific and Technical Information of China (English)

    倪莹莹; 陆建芹

    2001-01-01

    Objective: To observe the therapeutic effect of moxibustion in treatment of diarrhea type irritable bowel syndrome (IBS). Methods: 56 cases of IBS were divided into treatment group (n=30) and control group (n=26). Patients of the former group were treated with moxibustion of Guanyuan (CV 4) and Zusanli (ST 36) in combination with Xiajuxu (ST 39) for lowering abdominal pain and with Shangjuxu (ST 37) for left lower abdominal pain; whilethose of the later group were treated with oral administration of Nifedipinum (10 mg, 3 times a day) and Smecta (1 bag, 3 times daily). After 15 days' treatment, the therapeutic effect was evaluated. Results: After treatment, the effective rates for abdominal pain, abdominal distension, abnormal frequency, abnormal stool, dyspepsia in treatment group were 100.00%, 94.74%, 96.67%, 100.00% and 95.00% respectively, with a total improving rate of 79.30% ; and those in control group 95.65%, 82.35%, 92.31%, 96.15% and 75.00% separately, with the total improving rate being 63.98%. There were significant differences between two groups in the effective rate of dyspepsia and the total improving rate of symptoms (P<0.05,0.01 ). Conclusion: Moxibustion treatment is effective in treatment of IBS and superior to that of Western medicines

  13. Inflammation in metabolic syndrome and type 2 diabetes: Impact of dietary glucose.

    Science.gov (United States)

    Kempf, Kerstin; Rose, Bettina; Herder, Christian; Kleophas, Ursula; Martin, Stephan; Kolb, Hubert

    2006-11-01

    Chronic overnutrition combined with a lack of exercise is the main cause for the rapidly increasing prevalence of overweight and obesity. It seems accepted that adipositis (macrophage infiltration and inflammation of adipose tissue in obesity) and systemic low grade inflammation affect the pathogenesis of the metabolic syndrome or type 2 diabetes mellitus (T2DM). Therefore, modern weight reduction programs additionally focus on strategies to attenuate the inflammation state. Exercise is one major factor, which contributes to the reduction of both the incidence of T2DM and inflammation, and the immunomodulatory effects of exercise are supported by similarly beneficial effects of dietary changes. In this context, glucose is the most extensively studied nutrient and current investigations focus on postprandial glucose-induced inflammation, one possible reason why hyperglycemia is detrimental. Indeed, glucose may modulate the mRNA expression and serum concentrations of immune parameters but these alterations rapidly normalize in normoglycemic subjects. In case of an impaired metabolic state, however, postprandial hyperglycemia increases magnitude and duration of systemic inflammatory responses, which probably promotes the development of T2DM and of cardiovascular disease.

  14. Characterization and rescue of telomeric abnormalities in ICF syndrome type I fibroblasts

    Science.gov (United States)

    Yehezkel, Shiran; Shaked, Rony; Sagie, Shira; Berkovitz, Ron; Shachar-Bener, Hofit; Segev, Yardena; Selig, Sara

    2013-01-01

    Mutations in the human DNA methyltransferase 3B (DNMT3B) gene lead to ICF (immunodeficiency, centromeric region instability, and facial anomalies) syndrome type I. We have previously described a telomere-related phenotype in cells from these patients, involving severe hypomethylation of subtelomeric regions, abnormally short telomeres and high levels of telomeric-repeat-containing RNA (TERRA). Here we demonstrate that ICF-patient fibroblasts carry abnormally short telomeres at a low population doubling (PD) and enter senescence prematurely. Accordingly, we attempted to rescue the senescence phenotype by ectopic expression of human telomerase, which led to elongated telomeres with hypomethylated subtelomeres. The senescence phenotype was overcome under these conditions, thus dissociating subtelomeric-DNA hypomethylation per se from the senescence phenotype. In addition, we examined whether the subtelomeric methylation could be restored by expression of a normal copy of full length DNMT3B1 in ICF fibroblasts. Ectopic expression of DNMT3B1 failed to rescue the abnormal hypomethylation at subtelomeres. However, partial rescue of subtelomeric-hypomethylation was achieved by co-expression of DNMT3B1 together with DNA methyltransferase 3-like (DNMT3L), encoding a protein that functions as a stimulator of DNMT3A and DNMT3B. DNMT3B1 and DNMT3L are predominantly expressed during early embryonic development, suggesting that de novo subtelomeric DNA methylation during crucial stages of human embryonic development may be necessary for setting and maintaining normal telomere length. PMID:23450006

  15. A-type lamins and Hutchinson-Gilford progeria syndrome: pathogenesis and therapy.

    Science.gov (United States)

    Gonzalez, Jose M; Pla, Davinia; Perez-Sala, Dolores; Andres, Vicente

    2011-06-01

    Lamin A and lamin C (A-type lamins, both encoded by the LMNA gene) are major components of the mammalian nuclear lamina, a complex proteinaceous structure that acts as a scaffold for protein complexes that regulate nuclear structure and function. Abnormal accumulation of farnesylated-progerin, a mutant form of prelamin A, plays a key role in the pathogenesis of the Hutchinson-Gilford progeria syndrome (HGPS), a devastating disorder that causes the death of affected children at an average age of 13.5 years, predominantly from premature atherosclerosis and myocardial infarction or stroke. Remarkably, progerin is also present in normal cells and appears to progressively accumulate during aging of non-HGPS cells. Therefore, understanding how this mutant form of lamin A provokes HGPS may shed significant insight into physiological aging. In this review, we discuss recent advances into the pathogenic mechanisms underlying HGPS, the main murine models of the disease, and the therapeutic strategies developed in cellular and animal models with the aim of reducing the accumulation of farnesylated-progerin, as well as their use in clinical trials of HGPS.

  16. A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.

    Science.gov (United States)

    Zhu, Wufei; Hu, Zhen; Liao, Xiangyu; Chen, Xing; Huang, Wenrong; Zhong, Yu; Zeng, Zhaoyang

    2017-05-24

    Autoimmune polyendocrine syndrome type 1 (APS-1, OMIM 2403000) is a rare autosomal recessive disease that is caused by autoimmune regulator (AIRE). The main symptoms of APS-1 are chronic mucocutaneous candidiasis, autoimmune adrenocortical insufficiency (Addison's disease) and hypoparathyroidism. We collected APS-1 cases and analysed them. The AIRE genes of the patient and his family members were sequenced to identify whether the APS-1 patient had an AIRE mutation. We discovered a mutation site (c.206A>C) that had never before been reported in the AIRE gene located in exon 2 of the AIRE gene. This homogyzous mutation caused a substitution of the 69th amino acid of the AIRE protein from glutamine to proline (p.Q69P). A yeast two-hybrid assay, which was used to analyse the homodimerization properties of the mutant AIRE protein, showed that the mutant AIRE protein could not interact with the normal AIRE protein. Flow cytometry and RT-qPCR analyses indicated that the new mutation site could decrease the expression levels of the AIRE, glutamic acid decarboxylase 65 (GAD65) and tryptophan hydroxylase-1 (TPH1) proteins to affect central immune tolerance. In conclusion, our research has shown that the new mutation site (c.206A>C) may influence the homodimerization and expression levels and other aspects of the AIRE protein. It may also impact the expression levels of tissue-restricted antigens (TRAs), leading to a series of autoimmune diseases.

  17. A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.

    Science.gov (United States)

    Zhang, Junyu; Liu, Hongbin; Liu, Zhiyuan; Liao, Yong; Guo, Luo; Wang, Honglian; He, Lin; Zhang, Xiaodong; Xing, Qinghe

    2013-01-01

    Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare autosomal recessive disease defined by the presence of two of the three conditions: mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease. Loss-of-function mutations of the autoimmune regulator (AIRE) gene have been linked to APS-1. Here we report mutational analysis and functional characterization of an AIRE mutation in a consanguineous Chinese family with APS-1. All exons of the AIRE gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. We identified a homozygous missense AIRE mutation c.463G>A (p.Gly155Ser) in two siblings with different clinical features of APS-1. In silico splice-site prediction and minigene analysis were carried out to study the potential pathological consequence. Minigene splicing analysis and subsequent cDNA sequencing revealed that the AIRE mutation potentially compromised the recognition of the splice donor of intron 3, causing alternative pre-mRNA splicing by intron 3 retention. Furthermore, the aberrant AIRE transcript was identified in a heterozygous carrier of the c.463G>A mutation. The aberrant intron 3-retaining transcript generated a truncated protein (p.G155fsX203) containing the first 154 AIRE amino acids and followed by 48 aberrant amino acids. Therefore, our study represents the first functional characterization of the alternatively spliced AIRE mutation that may explain the pathogenetic role in APS-1.

  18. Relationship between Adiponectin Level, Insulin Sensitivity, and Metabolic Syndrome in Type 1 Diabetic Patients

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    Kristina Blaslov

    2013-01-01

    Full Text Available Objective. Adiponectin is known to be decreased in insulin resistance (IR and metabolic syndrome (MS which can be present in patients with type 1 diabetes mellitus (T1DM. The aim of this study was to evaluate the relationship between adiponectin level, MS, and insulin sensitivity in T1DM. Research Design and Methods. The study included 77 T1DM patients divided into two groups based on the total plasma adiponectin median value. Insulin sensitivity was calculated with the equation for eGDR, and MS was defined according to International Diabetes Federation criteria. Results. Patients with higher adiponectin level ( had significantly lower waist circumference (, fasting venous glucose levels (, higher HDL3-cholesterol (, and eGDR ( in comparison to the group with lower adiponectin who showed higher prevalence of MS (. eGDR increased for 1.09 mg/kg−1 min−1 by each increase of 1 µg/mL total fasting plasma adiponectin (. In the logistic regression model, adiponectin was inversely associated with the presence of MS (. Conclusion. Higher adiponectin concentration is associated with lower prevalence of MS in T1DM. Whether higher adiponectin concentration has a protective role in the development of the MS in T1DM needs to be clarified in future follow-up studies.

  19. Relationship between Adiponectin Level, Insulin Sensitivity, and Metabolic Syndrome in Type 1 Diabetic Patients

    Science.gov (United States)

    Blaslov, Kristina; Zibar, Karin; Duvnjak, Lea

    2013-01-01

    Objective. Adiponectin is known to be decreased in insulin resistance (IR) and metabolic syndrome (MS) which can be present in patients with type 1 diabetes mellitus (T1DM). The aim of this study was to evaluate the relationship between adiponectin level, MS, and insulin sensitivity in T1DM. Research Design and Methods. The study included 77 T1DM patients divided into two groups based on the total plasma adiponectin median value. Insulin sensitivity was calculated with the equation for eGDR, and MS was defined according to International Diabetes Federation criteria. Results. Patients with higher adiponectin level (n = 39) had significantly lower waist circumference (P < 0.002), fasting venous glucose levels (P < 0.001), higher HDL3-cholesterol (P = 0.011), and eGDR (P = 0.003) in comparison to the group with lower adiponectin who showed higher prevalence of MS (P = 0.045). eGDR increased for 1.09 mg/kg−1 min−1 by each increase of 1 µg/mL total fasting plasma adiponectin (P = 0.003). In the logistic regression model, adiponectin was inversely associated with the presence of MS (P = 0.014). Conclusion. Higher adiponectin concentration is associated with lower prevalence of MS in T1DM. Whether higher adiponectin concentration has a protective role in the development of the MS in T1DM needs to be clarified in future follow-up studies. PMID:23956744

  20. Characterization and rescue of telomeric abnormalities in ICF syndrome type I fibroblasts.

    Directory of Open Access Journals (Sweden)

    Shiran eYehezkel

    2013-02-01

    Full Text Available Mutations in the human DNA methyltransferase 3B (DNMT3B gene lead to ICF (immunodeficiency, centromeric region instability, facial anomalies syndrome type I. We have previously described a telomere-related phenotype in cells from these patients, involving severe hypomethylation of subtelomeric regions, abnormally short telomeres and high levels of telomeric-repeat-containing RNA (TERRA. Here we demonstrate that ICF-patient fibroblasts carry abnormally short telomeres at a low population doubling and enter senescence prematurely. Accordingly, we attempted to rescue the senescence phenotype by ectopic expression of human telomerase, which led to elongated telomeres with hypomethylated subtelomeres. The senescence phenotype was overcome under these conditions, thus dissociating subtelomeric-DNA hypomethylation per se from the senescence phenotype. In addition, we examined whether the subtelomeric methylation could be restored by expression of a normal copy of full length DNMT3B1 in ICF fibroblasts. Ectopic expression of DNMT3B1 failed to rescue the abnormal hypomethylation at subtelomeres. However, partial rescue of subtelomeric-hypomethylation was achieved by co-expression of DNMT3B1 together with DNA methyltransferase 3-like (DNMT3L, encoding a protein that functions as a stimulator of DNMT3A and DNMT3B. DNMT3B1 and DNMT3L are predominantly expressed during early embryonic development, suggesting that de novo subtelomeric DNA methylation during crucial stages of human embryonic development may be necessary for setting and maintaining normal telomere length.

  1. Successful vaginal birth after caesarean section in patient with Ehler-Danlos syndrome type 2.

    Science.gov (United States)

    Maraj, Hemant; Mohajer, Michelle; Bhattacharjee, Deepannita

    2011-12-01

    We present the case of a 31-year-old woman with Ehler-Danlos syndrome (EDS) type 2. She had a previous caesarean section and went on to have an uncomplicated vaginal birth in her last pregnancy. To our knowledge, this is the first case of a successful vaginal birth after caesarean section in a patient with EDS. EDS is a multisystem disorder involving a genetic defect in collagen and connective-tissue synthesis and structure. It is a heterogeneous group of 11 different inherited disorders. Obstetric complications in these patients include miscarriages, stillbirths, premature rupture of the membranes, preterm labour, uterine prolapse, uterine rupture and severe postpartum haemorrhage. There has been much controversy over the appropriate mode of delivery. Abdominal deliveries are complicated by delayed wound healing and increased perioperative blood loss. Vaginal deliveries may be complicated by tissue friability causing extensive perineal tears, pelvic floor and bladder lesions. Our case highlights that in specific, controlled situations it is possible to have a vaginal delivery even after previous caesarean section in patients with EDS.

  2. Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome.

    Science.gov (United States)

    Ito, Susumu; Oguni, Hirokazu; Ito, Yasushi; Ishigaki, Keiko; Ohinata, Junko; Osawa, Makiko

    2008-03-01

    Glucose transporter type 1 deficiency syndrome (GLUT-1 DS), giving rise to impaired glucose transport across the blood-brain barrier, is characterized by infantile seizures, complex motor disorders, global developmental delay, acquired microcephaly, and hypoglycorrhachia. GLUT-1 DS can be treated effectively with a ketogenic diet because it can provide an alternative fuel for brain metabolism; however, the excessive restriction of food intake involved frequently makes it difficult for patients to initiate or continue the diet. Recently, the modified Atkins diet, which is much less restrictive in terms of the total calorie and protein intake than the classical ketogenic diet, has been shown to be effective and well tolerated in children with intractable epilepsy. We successfully introduced the modified Atkins diet to a 7-year-old boy with GLUT-1 DS, whose caregivers refused ketogenic diet treatment because of strong concerns over restricting the diet. The modified Atkins diet should be considered for patients with GLUT-1 DS as an alternative to the traditional ketogenic diet.

  3. An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges.

    Science.gov (United States)

    Yeowell, Heather N; Walker, Linda C; Neumann, Luitgard M

    2005-01-01

    We have characterized a patient with the phenotype of Ehlers-Danlos syndrome type VIA (EDS VIA: kyphoscoliotic form), accompanied by the unique feature of cystic malformations of the meninges, to be homozygous for a large duplication of 8.9 kb in the lysyl hydroxylase 1 (LH1) gene that is the cause of severely decreased levels of LH activity in her skin fibroblasts. Electrophoresis of full length cDNA for LH1, prepared from the patient's fibroblasts and amplified by PCR, showed an abnormally large DNA fragment indicative of a duplication mutation; this mutation was confirmed in genomic DNA by PCR using duplication-specific primers and sequence analysis of the duplication junction. The homozygosity of this mutation was confirmed by analysis of DNA from the unaffected parents which showed them to be carriers of this duplication. This seven exon duplication is the most common mutation in the LH1 gene in patients with EDS VIA and occurs via a homologous recombination of Alu sequences in introns 9 and 16. Using the data from this study and other recent reports, we have updated the allele frequency for this mutation, based on 19 duplicated alleles out of a total of 104 genetically independent alleles from 53 EDS VIA families, to be 18.3%.

  4. Elosulfase Alfa: a review of its use in patients with mucopolysaccharidosis type IVA (Morquio A syndrome).

    Science.gov (United States)

    Lyseng-Williamson, Katherine A

    2014-10-01

    Elosulfase alfa (Vimizim(®)) is a recombinant form of the human lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS) that is lacking in patients with mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome). It is the first, and currently only, disease-specific treatment option for this very rare, progressively degenerative, autosomal-recessive lysosomal storage disorder. Enzyme replacement therapy with elosulfase alfa aims to restore GALNS activity, thereby preventing the accumulation of keratan sulfate (KS) and chondroitin-6-sulfate in lysosomal compartments of cells that results in the clinical manifestations of MPS IVA. In clinical trials in children and adults with MPS IVA, intravenous elosulfase alfa 2 mg/kg/week provided significant and sustained improvements in urinary levels of KS (a pharmacodynamic biomarker for the disease). In the key placebo-controlled, 24-week, phase 3 trial in patients with MPS IVA aged ≥5 years, elosulfase alfa 2 mg/kg/week significantly improved endurance [least squares mean placebo-adjusted change from baseline in 6-min walk test distance 22.5 m (95 % CI 4.0-40.9)]. Infusion-associated reactions, the primary tolerability issue associated with elosulfase alfa, are generally mild to moderate in severity, self-limiting, and manageable. In the absence of a cure, GALNS enzyme replacement therapy with elosulfase alfa is an important achievement in the treatment of MPS IVA.

  5. A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome.

    Science.gov (United States)

    Hamatani, Mio; Jingami, Naoto; Uemura, Kengo; Nakasone, Naoe; Kinoshita, Hisanori; Yamakado, Hodaka; Ninomiya, Haruaki; Takahashi, Ryosuke

    2016-06-22

    A 40-year-old man was referred to our hospital because of vertical supranuclear gaze palsy, frequent sudden loss of muscle tonus and ataxia for several years. He had a history of prolonged neonatal jaundice. He was given a diagnosis of autism in his childhood, followed by a diagnosis of schizophrenia in his teenage. He also developed a savant skill of calendar calculating. (123)I-IMP-SPECT showed decreased cerebral blood flow in the left frontotemporal lobe as often seen in savant syndrome. Although genetic analysis of NPC1 and NPC2 revealed no pathogenic mutation, filipin staining of cultured fibroblasts from his biopsied skin revealed a certain amount of intracellular cholesterol storage pattern, indicating a variant biochemical phenotype of Niemann-Pick disease type C (NPC). The diagnosis of adulthood onset NPC is difficult and challenging, especially for neurologists, because the symptoms and signs are not as clear as those in the classical childhood onset NPC and this subtype is not yet widely known. However, the diagnosis can be made by a combination of filipin staining of fibroblast and/or gene analysis. As a disease-specific therapy for NPC has been approved in Japan, the diagnosis of NPC is of significance.

  6. A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.

    Directory of Open Access Journals (Sweden)

    Junyu Zhang

    Full Text Available Autoimmune polyendocrine syndrome type 1 (APS-1 is a rare autosomal recessive disease defined by the presence of two of the three conditions: mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease. Loss-of-function mutations of the autoimmune regulator (AIRE gene have been linked to APS-1. Here we report mutational analysis and functional characterization of an AIRE mutation in a consanguineous Chinese family with APS-1. All exons of the AIRE gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. We identified a homozygous missense AIRE mutation c.463G>A (p.Gly155Ser in two siblings with different clinical features of APS-1. In silico splice-site prediction and minigene analysis were carried out to study the potential pathological consequence. Minigene splicing analysis and subsequent cDNA sequencing revealed that the AIRE mutation potentially compromised the recognition of the splice donor of intron 3, causing alternative pre-mRNA splicing by intron 3 retention. Furthermore, the aberrant AIRE transcript was identified in a heterozygous carrier of the c.463G>A mutation. The aberrant intron 3-retaining transcript generated a truncated protein (p.G155fsX203 containing the first 154 AIRE amino acids and followed by 48 aberrant amino acids. Therefore, our study represents the first functional characterization of the alternatively spliced AIRE mutation that may explain the pathogenetic role in APS-1.

  7. Executive Functioning in Children with Asperger Syndrome, ADHD-Combined Type, ADHD-Predominately Inattentive Type, and Controls

    Science.gov (United States)

    Semrud-Clikeman, Margaret; Walkowiak, Jenifer; Wilkinson, Alison; Butcher, Brianne

    2010-01-01

    The purpose of the study was to evaluate neuropsychological and behavioral rating measures of executive functions (EF) in children with two subtypes of ADHD, Asperger syndrome (AS), and controls. Relative to the control group, the clinical groups experienced more difficulty in EF. The AS group showed the most difficulty in emotional control,…

  8. Executive Functioning in Children with Asperger Syndrome, ADHD-Combined Type, ADHD-Predominately Inattentive Type, and Controls

    Science.gov (United States)

    Semrud-Clikeman, Margaret; Walkowiak, Jenifer; Wilkinson, Alison; Butcher, Brianne

    2010-01-01

    The purpose of the study was to evaluate neuropsychological and behavioral rating measures of executive functions (EF) in children with two subtypes of ADHD, Asperger syndrome (AS), and controls. Relative to the control group, the clinical groups experienced more difficulty in EF. The AS group showed the most difficulty in emotional control,…

  9. Cinnamon: potential role in the prevention of insulin resistance, metabolic syndrome, and type 2 diabetes

    Science.gov (United States)

    The metabolic syndrome is associated with insulin resistance, elevated glucose and lipids, inflammation, decreased antioxidant activity, increased weight gain, and increased glycation of proteins. Cinnamon has been shown to improve aspects of metabolic syndrome in cells cultured in vitro, and in an...

  10. Frontostriatal dysexecutive syndrome: a core cognitive feature of myotonic dystrophy type 2.

    Science.gov (United States)

    Peric, Stojan; Mandic-Stojmenovic, Gorana; Stefanova, Elka; Savic-Pavicevic, Dusanka; Pesovic, Jovan; Ilic, Vera; Dobricic, Valerija; Basta, Ivana; Lavrnic, Dragana; Rakocevic-Stojanovic, Vidosava

    2015-01-01

    The aim of this study was to assess cognitive status in a large group of patients with myotonic dystrophy type 2 (DM2) compared to type 1 (DM1) subjects matched for gender and age, using a comprehensive battery of neuropsychological tests. Thirty-four genetically confirmed adult DM2 patients were recruited and matched for gender and age with 34 adult-onset DM1 subjects. All patients underwent detailed classic pen and pencil neuropsychological investigation and also computerized automated battery-CANTAB. More than half of DM2 patients had abnormal results on executive tests [Intra/Extradimensional Set Shift (IED), Stockings of Cambridge (SOC)] and verbal episodic memory (Ray Auditory Verbal Learning Test). Regarding DM1, abnormal results in more than 50 % of subjects were achieved in even ten tests, including visuospatial, language, executive, cognitive screening and visual memory tests. Direct comparison between patient groups showed that lower percentage of DM2 patients had abnormal results on following tests: Addenbrooke's Cognitive Examination-Revised, Raven Standard Progressive Matrices, Block Design, copy and recall of Rey-Osterieth Complex Figure, number of categories and perseverative responses on Wisconsin Card Sorting Test and Boston Naming Test (p < 0.01), as well as Trail Making Test-B and Spatial Span (p < 0.05). Our results showed significant dysexecutive syndrome and certain impairment of episodic verbal memory in DM2 patients that are reflective of frontal (especially frontostriatal) and temporal lobe dysfunction. On the other hand, dysexecutive and visuospatial/visuoconstructional deficits predominate in DM1 which correspond to the frontal, parietal (and occipital) lobe dysfunction.

  11. Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B.

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    Coy D Heldermon

    Full Text Available BACKGROUND: Mucopolysaccharidosis (MPS IIIB (Sanfilippo Syndrome type B is caused by a deficiency in the lysosomal enzyme N-acetyl-glucosaminidase (Naglu. Children with MPS IIIB develop disturbances of sleep, activity levels, coordination, vision, hearing, and mental functioning culminating in early death. The murine model of MPS IIIB demonstrates lysosomal distention in multiple tissues, a shortened life span, and behavioral changes. PRINCIPAL FINDINGS: To more thoroughly assess MPS IIIB in mice, alterations in circadian rhythm, activity level, motor function, vision, and hearing were tested. The suprachiasmatic nucleus (SCN developed pathologic changes and locomotor analysis showed that MPS IIIB mice start their daily activity later and have a lower proportion of activity during the night than wild-type controls. Rotarod assessment of motor function revealed a progressive inability to coordinate movement in a rocking paradigm. Purkinje cell counts were significantly reduced in the MPS IIIB animals compared to age matched controls. By electroretinography (ERG, MPS IIIB mice had a progressive decrease in the amplitude of the dark-adapted b-wave response. Corresponding pathology revealed shortening of the outer segments, thinning of the outer nuclear layer, and inclusions in the retinal pigmented epithelium. Auditory-evoked brainstem responses (ABR demonstrated progressive hearing deficits consistent with the observed loss of hair cells in the inner ear and histologic abnormalities in the middle ear. CONCLUSIONS/SIGNIFICANCE: The mouse model of MPS IIIB has several quantifiable phenotypic alterations and is similar to the human disease. These physiologic and histologic changes provide insights into the progression of this disease and will serve as important parameters when evaluating various therapies.

  12. Factors Associated With Disability and Sick Leave in Early Complex Regional Pain Syndrome Type-1.

    Science.gov (United States)

    Bean, Debbie J; Johnson, Malcolm H; Heiss-Dunlop, Wolfgang; Kydd, Robert R

    2016-02-01

    Factors influencing disability and work absence in complex regional pain syndrome type-1 (CRPS)-1 have not been thoroughly described in the literature. We sought to determine whether demographic variables, work-related factors, CRPS clinical severity ratings, pain scores, or psychological variables were associated with disability and sick leave in early CRPS-1. A total of 66 CRPS-1 patients were recruited within 12 weeks of CRPS onset. Patients completed measures of pain, depression, anxiety, stress, pain catastrophizing, and pain-related fear. A physical examination was conducted to assess signs and symptoms of CRPS and to calculate a CRPS severity score. Demographic details, clinical details, treatments, work type, and work status were recorded. In multivariate analyses, the following factors were associated with greater disability: higher pain scores, more restricted ankle or wrist extension, and higher levels of depression. Among the 49 who were either working or studying before developing CRPS, 28 had stopped work or study at the time of assessment. Multivariate analyses showed that sick leave was more likely among those whose CRPS was triggered by more severe injuries, whose work was more physically demanding, among those with higher disability scores, and there was also a significant effect of depression on sick leave, which was mediated by disability. Although the study was cross-sectional and so cannot differentiate cause from effect, results suggest that even in the early stages of CRPS, a cycle of pain, disability, depression, and work absence can emerge. Treatments aimed to prevent this cycle may help prevent adverse long-term outcomes.

  13. Sensitive detection and typing of porcine reproductive and respiratory syndrome virus by RT-PCR amplification of whole viral genes

    DEFF Research Database (Denmark)

    Oleksiewicz, M.B.; Bøtner, Anette; Madsen, K.G.;

    1998-01-01

    Following the recent use of a live vaccine against porcine reproductive and respiratory syndrome virus (PRRSV) in Denmark, both American (vaccine) and European-type PRRSV now coexist in Danish herds. This situation highlighted a requirement for supplementary tests for precise virus-typing. As a r...... and oligonucleotide hybridization) for confirmation of the specificity of ORF 7 RT-PCR reactions. As such, the RT PCR assay provides a new, powerful diagnostic tool to study the population dynamics between present and emerging PRRSV-types....

  14. Presymptomatic genetic analysis during pregnancy for vascular type Ehlers–Danlos syndrome

    Directory of Open Access Journals (Sweden)

    Naing BT

    2014-06-01

    Full Text Available Banyar Than Naing,1 Atsushi Watanabe,1,2 Shinji Tanigaki,3 Masae Ono,4 Mitsutoshi Iwashita,3 Takashi Shimada1,21Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan; 2Division of Clinical Genetics, Nippon Medical School Hospital, Tokyo, Japan; 3Department of Obstetrics and Gynecology, Kyorin University School of Medicine, Tokyo, Japan; 4Department of Pediatrics, Kyorin University School of Medicine, Tokyo, JapanAbstract: The vascular type of Ehlers–Danlos syndrome (EDS, EDS type IV (Online Mendelian Inheritance in Man [MIM] #130050 is characterized by thin, translucent skin, easy bruising, and arterial, intestinal, and/or uterine fragility during pregnancy, which may lead to sudden death. It is an autosomal dominant inherited disorder caused by type III procollagen gene (COL3A1: MIM #120180 mutations. Approximately 50% of the COL3A1 mutations are inherited from an affected parent, and 50% are de novo mutations. Each child of an affected individual has a 50% chance of inheriting the mutation and developing the disorder. Pregnant women with vascular EDS are at an increased risk of uterine and arterial rupture during the peripartum period, with high maternal morbidity and mortality rates. We report the first case of an asymptomatic 35-year-old woman at a risk of complications of vascular EDS who underwent presymptomatic evaluation during pregnancy. The sequencing results of both her brother and mother had a one-base-pair deletion, resulting in Glutamate at position 730 changing to Lysine and causing a frame shift and premature termination codon at 61 amino acids from the mutation position (p. Glu730Lysfs*61 on exon 32 of COL3A1. This deletion caused frameshift, leading to a premature termination codon (TAG at 181 nucleotides downstream in exon 35, which could not be detected by previous total RNA (ribonucleic acid method. Thus, she was at risk of complications of vascular EDS, and diagnostic testing was employed

  15. A unique combination of autoimmune limbic encephalitis, type 1 diabetes, and Stiff person syndrome associated with GAD-65 antibody.

    Science.gov (United States)

    Sharma, Chandra Mohan; Pandey, Rajendra Kumar; Kumawat, Banshi Lal; Khandelwal, Dinesh; Gandhi, Pankaj

    2016-01-01

    Antibodies to GAD-65 have been implicated in the pathogenesis of type 1 diabetes, limbic encephalitis and Stiff person syndrome, however these diseases rarely occur concurrently. We intend to present a rare case of 35 year old female who was recently diagnosed as having type 1 diabetes presented with 1½ month history of recurrent seizures, subacute onset gait ataxia, dysathria, psychiatric disturbance and cognitive decline. No tumor was found on imaging and the classic paraneoplastic panel was negative. Cerebrospinal fluid and blood was positive for GAD-65 antibodies. Patient showed significant improvement with immunomodulatory therapy. Association of GAD-65 antibodies has been found with various disorders including type 1 diabetes, limbic encephalitis, Stiff person syndrome, cerebellar ataxia and palatal myoclonus. This case presents with unique combination of type 1 diabetes, Stiff person syndrome and limbic encephalitis associated with GAD-65 antibodies that is responsive to immunotherapy. It also highlights the emerging concept of autoimmunity in the causation of various disorders and there associations.

  16. Genetic, chromosomal, and syndromic causes of neural tube defects

    Science.gov (United States)

    Seidahmed, Mohammed Z.; Abdelbasit, Omer B.; Shaheed, Meeralebbae M.; Alhussein, Khalid A.; Miqdad, Abeer M.; Samadi, Abdulmohsen S.; Khalil, Mohammed I.; Al-Mardawi, Elham; Salih, Mustafa A.

    2014-01-01

    Objective: To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. Methods: We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Results: Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. Conclusions: There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions. PMID:25551112

  17. Genetics Home Reference: Donohue syndrome

    Science.gov (United States)

    ... resistance syndromes. These disorders, which also include Rabson-Mendenhall syndrome and type A insulin resistance syndrome , are ... of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. Medicine (Baltimore). 2004 ...

  18. Fluency Disorders in Genetic Syndromes

    Science.gov (United States)

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  19. Chronic pain in a patient with Ehlers-Danlos syndrome (hypermobility type): The role of myofascial trigger point injections.

    Science.gov (United States)

    Tewari, Saipriya; Madabushi, Rajashree; Agarwal, Anil; Gautam, Sujeet K; Khuba, Sandeep

    2017-01-01

    Chronic widespread musculoskeletal pain is a cardinal symptom in hypermobility type of Ehler Danlos Syndrome (EDS type III). The management of pain in EDS, however, has not been studied in depth. A 30 year old female, known case of EDS, presented to the pain clinic with complaints of severe upper back pain for 6 months. Physical examination of the back revealed two myofascial trigger points over the left rhomboids and the left erector spinae. Local anaesthetic trigger point injections were given at these points, followed by stretching exercises under analgesic cover for the first week. After 1 week the patient reported 60-80% pain relief. This case highlights that we must keep a high index of suspicion for the more treatable causes of pain like myofascial pain syndrome in patients suffering from EDS, and should address it promptly and appropriately in order to maximise patient comfort. Copyright © 2016 Elsevier Ltd. All rights reserved.

  20. [Myocardial infarction by spontaneous dissection of coronary arteries in a subject with type IV Ehlers-Danlos syndrome].

    Science.gov (United States)

    Catanese, V; Venot, P; Lemesle, F; Delille, F; Runge, I; Kuchly, B

    1995-10-07

    Acute myocardial infarction with spontaneous coronary dissection was fatal in a 33-years-old man. Autopsy and family history revealed type IV Ehlers-Danlos syndrome. In this disease, conjunctive tissue is fragilized due to a deficit in type III collagen which leads to spontaneous ruptures in large and medium sized arteries. The present case is the first with a proven rupture of the coronary arteries. This disease should be entertained in young people with no atherogenous risk factor and an acute coronary disorder since peripheral skin and joint syndromes may be discreet or missing. Treatment is difficult in case of spontaneous coronary dissection. Thrombolysis is not possible and diagnosis may require angiography which is in itself dangerous due to the fragility of the coronary vessels.

  1. Hypovitaminosis D in type 2 diabetes: relation with features of the metabolic syndrome and glycemic control.

    Science.gov (United States)

    Miñambres, Inka; Sánchez-Quesada, Jose Luis; Vinagre, Irene; Sánchez-Hernández, Joan; Urgell, Eulalia; de Leiva, Alberto; Pérez, Antonio

    2015-01-01

    To assess the association of hypovitaminosis D with clinical and biochemical characteristics of type 2 diabetic patients and to determine the effect of glycemic control optimization on 25-hydroxyvitamin D (25(OH)D) concentrations. Cross-sectional study of 63 patients with type 2 diabetes (mean age 60 ± 9.8 years, 69.8% men). Twenty of the 63 patients were also studied before and after glycemic control optimization. Mean 25(OH)D concentrations were 63.64 ± 25.51 nmol/L and 74.6% of patients had hypovitaminosis D. Compared with patients with vitamin D sufficiency, patients with hypovitaminosis D had higher prevalence of overweight or obesity (72.3% versus 37.5%; p = 0.012) and higher VLDL cholesterol (VLDL-c) (0.71 (0.24-3.59) versus 0.45 (0.13-1.6) mmol/L; p = 0.011) and C-reactive protein (3.28 (0.36-17.69) versus 1.87 (0.18-17.47) mg/L; p = 0.033) concentrations. The composition of HDL particles also differed in both groups, with higher relative content of triglycerides and lower of cholesterol in patients with hypovitaminosis D. After adjustment for age, seasonality and BMI, differences remained significant for VLDL-c and triglyceride content of HDL. No differences were found regarding other diabetes characteristics. Improvement of glycemic control (HbA1c 9.4 (7.6-14.8) versus 7.3 (6.2-8.7)%; p = 0.000) was accompanied by a decrease in 25(OH)D concentrations (72.7 ± 33.3 to 59.0 ± 21.0 nmol/L; p = 0.035). Correlation analysis revealed that changes in 25(OH)D concentrations were negatively associated to changes in HbA1c (r - 0.482; p = 0.032). Hypovitaminosis D is associated with features of the metabolic syndrome in type 2 diabetes and improvement of glycemic control decreases 25(OH)D concentrations.

  2. Higher prevalence of type 2 diabetes, metabolic syndrome and cardiovascular diseases in gypsies than in non-gypsies in Slovakia

    DEFF Research Database (Denmark)

    de Courten, Barbora; de Courten, Maximilian; Hanson, Robert L

    2003-01-01

    Gypsies (or Roma) recently experienced a transition from a traditional to a Westernized lifestyle. Although mortality in this population is 4-fold higher compared with non-Gypsies, very limited information is available on their morbidity especially with regard to non-communicable diseases. Our ai...... was to determine the prevalence of type 2 diabetes mellitus (T2DM), metabolic syndrome and cardiovascular diseases in Gypsies and non-Gypsies living in the same region of southern Slovakia....

  3. Plasma calprotectin and its association with cardiovascular disease manifestations, obesity and the metabolic syndrome in type 2 diabetes mellitus patients

    DEFF Research Database (Denmark)

    Pedersen, Lise; Nybo, M.; Poulsen, M. K.

    2014-01-01

    Background: Plasma calprotectin is a potential biomarker of cardiovascular disease (CVD), insulin resistance (IR), and obesity. We examined the relationship between plasma calprotectin concentrations, CVD manifestations and the metabolic syndrome (MetS) in patients with type 2 diabetes mellitus (T2...... associated with obesity, MetS status, autonomic neuropathy, PAD, and MI. However, plasma calprotectin was not an independent predictor of CVD, MI, autonomic neuropathy or PAD....

  4. Hypothesis of the neuroendocrine cortisol pathway gene role in the comorbidity of depression, type 2 diabetes, and metabolic syndrome

    OpenAIRE

    Gragnoli C

    2014-01-01

    Claudia Gragnoli1,21Center for Biotechnology and Department of Biology, College of Science and Technology, Temple University, Philadelphia, PA, USA; 2Molecular Biology Laboratory, Bios Biotech Multi-Diagnostic Health Center, Rome, ItalyAbstract: Depression, type 2 diabetes (T2D), and metabolic syndrome (MetS) are often comorbid. Depression per se increases the risk for T2D by 60%. This risk is not accounted for by the use of antidepressant therapy. Stress causes hyperactivation of the hypotha...

  5. Emergent severe acute respiratory distress syndrome caused by adenovirus type 55 in immunocompetent adults in 2013: a prospective observational study

    OpenAIRE

    Sun, Bing; He, Hangyong; Wang, Zheng; Qu, Jiuxin; Li, Xuyan; Chengjun BAN; Wan, Jun; Cao, Bin; Tong, Zhaohui; Wang, Chen

    2014-01-01

    Introduction Since 2008, severe cases of emerging human adenovirus type 55 (HAdV-55) in immunocompetent adults have been reported sporadically in China. The clinical features and outcomes of the most critically ill patients with severe acute respiratory distress syndrome (ARDS) caused by HAdV-55 requiring invasive mechanical ventilation (IMV) and/or extracorporeal membrane oxygenation (ECMO) are lacking. Methods We conducted a prospective, single-center observational study of pneumonia with A...

  6. A Case of Isolated Left Ventricular Noncompaction with Basal ECG-Tracing Strongly Suggestive for Type-2 Brugada Syndrome

    Directory of Open Access Journals (Sweden)

    Maria Banci

    2011-01-01

    Full Text Available Isolated left ventricular noncompaction (ILVNC is a cardiomyopathy caused by intrauterine arrest of compaction of the myocardial fibres and meshwork, an important process in myocardial development. ILVNC is clinically accompanied by depressed ventricular function, arrhythmias, and systemic embolization. We reported a case of ILVNC with basal ECG-tracing strongly suggestive for type-2 Brugada syndrome (BrS. Up to now, this is the first report investigating the association between ILVNC and this particular ECG pattern.

  7. cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period

    OpenAIRE

    Palanca, Daniel; Garcia-Cazorla, Angels; Ortiz, Jessica; Jou, Cristina; Cusí, Victoria; Suñol, Mariona; Toll, Teresa; Perez, Belén; Ormazabal, Aida; Fowler, Brian; Artuch, Rafael

    2012-01-01

    This study describes a cblE type of homocystinuria associated with haemolytic-uremic syndrome (HUS) features. We report on a male infant aged 43 days presenting with failure to thrive, hypotonia, pancytopaenia, HUS symptoms (microangiopathic haemolytic anaemia and thrombocytopaenia with signs of renal involvement) and fatal evolution. An underlying cobalamin disorder was diagnosed after a bone marrow examination revealed megaloblastic changes associated with hyperhomocysteinaemia. An urinary ...

  8. Identification and classification of traditional Chinese medicine syndrome types among senior patients with vascular mild cognitive impairment using latent tree analysis.

    Science.gov (United States)

    Fu, Chen; Zhang, Nevin Lianwen; Chen, Bao-Xin; Chen, Zhou Rong; Jin, Xiang Lan; Guo, Rong-Juan; Chen, Zhi-Gang; Zhang, Yun-Ling

    2017-05-01

    To treat patients with vascular mild cognitive impairment (VMCI) using traditional Chinese medicine (TCM), it is necessary to classify the patients into TCM syndrome types and to apply different treatments to different types. In this paper, we investigate how to properly carry out the classification for patients with VMCI aged 50 or above using a novel data-driven method known as latent tree analysis (LTA). A cross-sectional survey on VMCI was carried out in several regions in Northern China between February 2008 and February 2012 which resulted in a data set that involves 803 patients and 93 symptoms. LTA was performed on the data to reveal symptom co-occurrence patterns, and the patients were partitioned into clusters in multiple ways based on the patterns. The patient clusters were matched up with syndrome types, and population statistics of the clusters are used to quantify the syndrome types and to establish classification rules. Eight syndrome types are identified: Qi deficiency, Qi stagnation, Blood deficiency, Blood stasis, Phlegm-dampness, Fire-heat, Yang deficiency, and Yin deficiency. The prevalence and symptom occurrence characteristics of each syndrome type are determined. Quantitative classification rules are established for determining whether a patient belongs to each of the syndrome types. A solution for the TCM syndrome classification problem for patients with VMCI and aged 50 or above is established based on the LTA of unlabeled symptom survey data. The results can be used as a reference in clinic practice to improve the quality of syndrome differentiation and to reduce diagnosis variances across physicians. They can also be used for patient selection in research projects aimed at finding biomarkers for the syndrome types and in randomized control trials aimed at determining the efficacy of TCM treatments of VMCI.

  9. The Relationship between "MECP2" Mutation Type and Health Status and Service Use Trajectories over Time in a Rett Syndrome Population

    Science.gov (United States)

    Young, Deidra; Bebbington, Ami; de Klerk, Nick; Bower, Carol; Nagarajan, Lakshmi; Leonard, Helen

    2011-01-01

    This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation type. Data were obtained from questionnaires administered over 6 years to 256 participants from the Australian Rett Syndrome Database. Health status (episodes of illness and medication load) and health service use…

  10. Tracking the cognitive, social and neuroanatomical profile in early neurodegeneration: Type III Cockayne syndrome

    Directory of Open Access Journals (Sweden)

    Sandra eBaez

    2013-11-01

    Full Text Available Cockayne syndrome (CS is an autosomal recessive disease associated with premature aging, progressive multiorgan degeneration and nervous system abnormalities including cerebral and cerebellar atrophy, brain calcifications and white matter abnormalities. Although several clinical descriptions of CS patients have reported developmental delay and cognitive impairment with relative preservation of social skills, no previous studies have carried out a comprehensive neuropsychological and social cognition assessment. Furthermore, no previous research in individuals with CS has examined the relationship between brain atrophy and performance on neuropsychological and social cognition tests. This study describes the case of an atypical late-onset type III CS patient who exceeds the mean life expectancy of individuals with this pathology. The patient and a group of healthy controls underwent a comprehensive assessment that included multiple neuropsychological and social cognition (emotion recognition, theory of mind and empathy tasks. In addition, we compared the pattern of atrophy in the patient to controls and to its concordance with ERCC8 gene expression in a healthy brain. The results showed memory, language and executive deficits that contrast with the relative preservation of social cognition skills. The cognitive profile of the patient was consistent with his pattern of global cerebral and cerebellar loss of gray matter volume (frontal structures, bilateral cerebellum, basal ganglia, temporal lobe, and occipito-temporal/occipito-parietal regions, which in turn was anatomically consistent with the ERCC8 gene expression level in a healthy donor’s brain. The study of exceptional cases, such as the one described here, is fundamental to elucidating the processes that affect the brain in premature aging diseases, and such studies provide an important source of information for understanding the problems associated with normal and pathological aging.

  11. Family history of type 2 diabetes and prevalence of metabolic syndrome in adult Asian Indians.

    Science.gov (United States)

    Das, Mithun; Pal, Susil; Ghosh, Arnab

    2012-04-01

    Our objective was to test the association between familial risk of type 2 diabetes mellitus (T2DM) and the prevalence of metabolic syndrome (MS) in adult Asian Indians. A total of 448 adult (>30 years) individuals (257 males and 191 females) participated in the study. Familial risk of T2DM was classified into three groups viz., 1=both parents affected; 2=parent and/or siblings affected and 3=none or no family history for T2DM. Anthropometric measures, blood pressures, fasting blood glucose and metabolic profiles were studied using standard techniques. MS was defined accordingly. The prevalence of MS phenotypes was estimated and compared among the three familial risk strata. Individuals with a history of both parents affected from diabetes had significantly higher (Ppressure (SBP), diastolic blood pressure (DBP) and fasting blood glucose (FBG; P=0.035) than individuals having no family history of T2DM. Significant difference was also noticed between individuals with and without MS according to the family history of diabetes (P<0.001). Differences were evident between individuals who fulfilled all the MS criteria (P=0.001) and individuals with only one or two criteria (phenotypes) according to family history of T2DM. Family history of T2DM had significant effect on individuals with MS as compared to their counterparts (individuals having no family history of T2DM). It therefore seems reasonable to argue that family history of T2DM could be useful as a predictive tool for early diagnosis and prevention of MS in Asian Indian population.

  12. Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome

    Directory of Open Access Journals (Sweden)

    Ali Al Kaissi

    2016-01-01

    Full Text Available Background: Thoracolumbar kyphosis has been considered as the first presenting deformity and is often a key diagnostic clue noted in children with mucopolysaccharidosis (MPS type IV (Morquio′s syndrome. However, we observed that the progressive irregularities of the epiphyses of the long bones were the most prominent skeletal pathology, causing effectively the development of diverse forms of lower limbs deformities with extreme variation in age of onset. Materials and Methods: Ten patients (seven children and three adults with an average age of 15 years have been enrolled in this study. Age of diagnosis of MPS IVA has a variable age of onset and a MISLEADING rate of severity. Hip dislocations, genu valgum, protrusio acetabuli and osteoarthritis were the most common lower limbs deformities in these patients. Clinical and radiographic phenotypes were the baseline tools of documentation. Urinary screening and genotypic characterizations have been applied accordingly. Results: Combined pelvic and femoral procedures for hip dislocation, epiphysiodeses and supracondylar osteotomy for genu valgum and hip arthroplasty for protrusio acetabuli have been performed. All patients manifested insufficient activity of N-acetylgalactosamine-6-sulphate sulphatase, an enzyme that degrades keratin sulphate and chondroitin-6 sulphate. Conclusion: The extensive clinical heterogeneity contributed significantly in the delay in establishing the diagnosis particularly in adult patients with MPS IV. The epiphyseal irregularities of the long bones and the progressive flattening pathology of MPS IV A were the reason to falsely diagnose some patients as spondyloepiphyseal dysplasia congenital and/or tarda. Proximal femoral osteotomy, realignment osteotomy and total hip arthroplasty have been performed for coxa vara, genu valgum and protrusio acetabuli, respectively, in children and adult group of patients. The importance of early diagnosis on MPS IV A is to receive enzyme

  13. Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin

    Directory of Open Access Journals (Sweden)

    Gahl William A

    2005-09-01

    Full Text Available Abstract Background Hermansky-Pudlak syndrome (HPS is a disorder of lysosome-related organelle biogenesis characterized by oculocutaneous albinism and prolonged bleeding. These clinical findings reflect defects in the formation of melanosomes in melanocytes and dense bodies in platelets. HPS type-3 (HPS-3 results from mutations in the HPS3 gene, which encodes a 1004 amino acid protein of unknown function that contains a predicted clathrin-binding motif (LLDFE at residues 172–176. Results Clathrin was co-immunoprecipitated by HPS3 antibodies from normal but not HPS3 null melanocytes. Normal melanocytes expressing a GFP-HPS3 fusion protein demonstrated partial co-localization of GFP-HPS3 with clathrin following a 20°C temperature block. GFP-HPS3 in which the predicted clathrin-binding domain of HPS3 was mutated (GFP-HPS3-delCBD did not co-localize with clathrin under the same conditions. Immunoelectron microscopy of normal melanocytes expressing GFP-HPS3 showed co-localization of GFP-HPS3 with clathrin, predominantly on small vesicles in the perinuclear region. In contrast, GFP-HPS3-delCBD did not co-localize with clathrin and exhibited a largely cytoplasmic distribution. Conclusion HPS3 associates with clathrin, predominantly on small clathrin-containing vesicles in the perinuclear region. This association most likely occurs directly via a functional clathrin-binding domain in HPS3. These results suggest a role for HPS3 and its protein complex, BLOC-2, in vesicle formation and trafficking.

  14. Hypothalamic-pituitary-adrenal axis function in patients with complex regional pain syndrome type 1.

    Science.gov (United States)

    Park, Jai Y; Ahn, Ryun S

    2012-09-01

    An exaggerated inflammatory process is considered an important pathophysiological feature of complex regional pain syndrome type 1 (CRPS-1). The hypothalamic-pituitary-adrenal (HPA) axis serves as a negative feedback mechanism for inflammatory processes. The present study examined the HPA axis function in patients with CRPS-1 by a determination of cortisol concentrations in saliva. Three sets of saliva samples were sequentially collected from 24 patients with CRPS-1 during medication (on-Med), 72 h after stopping medication (off-Med) and 8h after the oral administration of 1mg dexamethasone. One set of saliva samples was collected from healthy controls. The cortisol awakening response (CAR) and diurnal cortisol decline (DCD) were used as indices for HPA axis function. Cortisol levels during the post-awakening period in patients were increased following withdrawal of medications. The CAR during the off-Med condition was disappeared after administration of dexamethasone. Among the examined CRPS-related numerical variables, the frequency of spontaneous pain attacks showed relationships with the indices of HPA axis function. After classifying the patients into two subgroups, we observed that the CAR and DCD in patient who had a relatively high frequency of spontaneous pain attacks (subgroup 5 ≤) were lower and less steep than those in patient who had a relatively low frequency of spontaneous pain attacks (subgroup 0-4) for the on- and off-Med conditions. The CAR and DCD in subgroup 5 ≤ during their off-Med condition were comparable to those in controls. These results suggest that the increase in frequency of spontaneous pain attacks is associated with a reduced CAR and flattened DCD in patients CRPS-1.

  15. Prevalence of metabolic syndrome,obesity and diabetes type 2 in cryptogenic cirrhosis

    Institute of Scientific and Technical Information of China (English)

    Felix I Tellez-Avila; Francisco Sanchez-Avila; Mauricio García-Saenz-de-Sicilia; Norberto C Chavez-Tapia; Ada M Franco-Guzman; Gustavo Lopez-Arce; Eduardo Cerda-Contreras; Misael Uribe

    2008-01-01

    AIM: To evaluate the prevalence of metabolic syndrome (MS),obesity and type 2 diabetes mellitus (T2DM) in a group of Mexican Mestizo patients with cryptogenic cirrhosis (CC) and to compare this group with patients with cirrhosis secondary to other causes (disease controls).METHODS: Patients with CC,diagnosed between January,1990 and April,2005,were included in a retrospective study.Patients with cirrhosis caused by chronic hepatitis C,alcohol abuse or autoimmune hepatitis (AIH) served as disease controls.RESULTS: A total of 134 patients with CC were analyzed.Disease controls consisted of 81 patients with chronic hepatitis C,33 with alcohol abuse and 20 with AJH.The median age of patients with CC was 57 years (range,16-87); 83 (61.9%) patients were female; 53 (39.6%) were Child A,65 (48.5%) Child B,and 16 (11.9%) were Child C cirrhosis.The prevalence of MS (29.1% vs 6%; P < 0.001),obesity (16.4% vs 8.2%; P = 0.04) and T2DM (40% vs 22.4%; P = 0.013)was higher in CC patients than in disease controls.There were no differences in sex,age or liver function tests between the two groups.CONCLUSION: The prevalence of MS,obesity and T2DM were higher in patients with CC than in patients with cirrhosis secondary to others causes.Our findings support the hypothesis that non-alcoholic steatohepatitis (NASH) plays an under-recognized role in CC.

  16. Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome.

    Science.gov (United States)

    Dufendach, Keith A; Giudicessi, John R; Boczek, Nicole J; Ackerman, Michael J

    2013-06-01

    The presence of 2 distinct populations of somatic or germline cells within a single individual harboring different genotypes is termed mosaicism. Recent reports suggest that parental mosaicism is involved in the heritability of type 1 Timothy syndrome (TS1), an extremely rare and life-threatening multisystem disorder characterized by severe QT interval prolongation, syndactyly, and several other complications. Although full TS1 is caused by a single missense mutation in the CACNA1C-encoded cardiac calcium channel, mosaic TS1 parents can display isolated syndactyly without additional phenotypic manifestations. A newborn boy presented with syndactyly at birth. The presence of syndactyly in his mother led to a diagnosis of benign familial syndactyly. However, at 9 months of age, during his first syndactyly-corrective surgery, intraoperative electrocardiograms revealed extreme QT prolongation and 2:1 atrioventricular block. A comprehensive cardiac evaluation was performed, and both mother and child were tested genetically, confirming a clinical suspicion of TS1. Only the patient tested positive for the TS1 mutation; however, more extensive molecular testing revealed a limited presence of the mutation in maternally-derived DNA. This case illustrates the potential of parental mosaicism to confound the diagnosis of potentially life-threatening genetic diseases, such as TS1. Here, a mother with a partial TS1 phenotype and genetically confirmed mosaicism transmitted the TS1-causative mutation to her son, resulting in fully expressive TS1. Thus, a shared partial phenotype should not be dismissed as a benign or insignificant finding, but should be evaluated further to rule out the possibility of parental mosaicism concealing a potentially fatal heritable disease.

  17. Tracking the Cognitive, Social, and Neuroanatomical Profile in Early Neurodegeneration: Type III Cockayne Syndrome.

    Science.gov (United States)

    Baez, Sandra; Couto, Blas; Herrera, Eduar; Bocanegra, Yamile; Trujillo-Orrego, Natalia; Madrigal-Zapata, Lucia; Cardona, Juan Felipe; Manes, Facundo; Ibanez, Agustin; Villegas, Andres

    2013-01-01

    Cockayne syndrome (CS) is an autosomal recessive disease associated with premature aging, progressive multiorgan degeneration, and nervous system abnormalities including cerebral and cerebellar atrophy, brain calcifications, and white matter abnormalities. Although several clinical descriptions of CS patients have reported developmental delay and cognitive impairment with relative preservation of social skills, no previous studies have carried out a comprehensive neuropsychological and social cognition assessment. Furthermore, no previous research in individuals with CS has examined the relationship between brain atrophy and performance on neuropsychological and social cognition tests. This study describes the case of an atypical late-onset type III CS patient who exceeds the mean life expectancy of individuals with this pathology. The patient and a group of healthy controls underwent a comprehensive assessment that included multiple neuropsychological and social cognition (emotion recognition, theory of mind, and empathy) tasks. In addition, we compared the pattern of atrophy in the patient to controls and to its concordance with ERCC8 gene expression in a healthy brain. The results showed memory, language, and executive deficits that contrast with the relative preservation of social cognition skills. The cognitive profile of the patient was consistent with his pattern of global cerebral and cerebellar loss of gray matter volume (frontal structures, bilateral cerebellum, basal ganglia, temporal lobe, and occipito-temporal/occipito-parietal regions), which in turn was anatomically consistent with the ERCC8 gene expression level in a healthy donor's brain. The study of exceptional cases, such as the one described here, is fundamental to elucidating the processes that affect the brain in premature aging diseases, and such studies provide an important source of information for understanding the problems associated with normal and pathological aging.

  18. Cognitive skills and reading in adults with Usher syndrome type 2

    Directory of Open Access Journals (Sweden)

    Cecilia eHenricson

    2015-03-01

    Full Text Available Objective: To investigate working memory, phonological skills, lexical skills, and reading comprehension in adults with Usher syndrome type 2 (USH2.Design: The participants performed tests of phonological processing, lexical access, working memory and reading comprehension. The design of the test situation and tests was specifically considered for use with persons with low vision in combination with hearing impairment. The performance of the group with USH2 on the different cognitive measures was compared to that of a matched control group with normal hearing and vision (NVH.Study Sample: Thirteen participants with USH2 aged 21–60 years and a control group of ten individuals with NVH, matched on age and level of education.Results: The group with USH2 displayed significantly lower performance on tests of phonological processing, and on measures requiring both fast visual judgment and phonological processing. There was a larger variation in performance among the individuals with USH2 than in the matched control group.Conclusions: The performance of the group with USH2 indicated similar problems with phonological processing skills and phonological working memory as in individuals with long-term hearing loss. The group with USH2 also had significantly longer reaction times, indicating that processing of visual stimuli is difficult due to the visual impairment. These findings point toward the difficulties in accessing information that persons with USH2 experience, and could be part of the explanation of why individuals with USH2 report high levels of fatigue and feelings of stress (Wahlqvist et al., 2013.

  19. Complex regional pain syndrome type I affects brain structure in prefrontal and motor cortex.

    Directory of Open Access Journals (Sweden)

    Burkhard Pleger

    Full Text Available The complex regional pain syndrome (CRPS is a rare but debilitating pain disorder that mostly occurs after injuries to the upper limb. A number of studies indicated altered brain function in CRPS, whereas possible influences on brain structure remain poorly investigated. We acquired structural magnetic resonance imaging data from CRPS type I patients and applied voxel-by-voxel statistics to compare white and gray matter brain segments of CRPS patients with matched controls. Patients and controls were statistically compared in two different ways: First, we applied a 2-sample ttest to compare whole brain white and gray matter structure between patients and controls. Second, we aimed to assess structural alterations specifically of the primary somatosensory (S1 and motor cortex (M1 contralateral to the CRPS affected side. To this end, MRI scans of patients with left-sided CRPS (and matched controls were horizontally flipped before preprocessing and region-of-interest-based group comparison. The unpaired ttest of the "non-flipped" data revealed that CRPS patients presented increased gray matter density in the dorsomedial prefrontal cortex. The same test applied to the "flipped" data showed further increases in gray matter density, not in the S1, but in the M1 contralateral to the CRPS-affected limb which were inversely related to decreased white matter density of the internal capsule within the ipsilateral brain hemisphere. The gray-white matter interaction between motor cortex and internal capsule suggests compensatory mechanisms within the central motor system possibly due to motor dysfunction. Altered gray matter structure in dorsomedial prefrontal cortex may occur in response to emotional processes such as pain-related suffering or elevated analgesic top-down control.

  20. Complex regional pain syndrome type I affects brain structure in prefrontal and motor cortex.

    Science.gov (United States)

    Pleger, Burkhard; Draganski, Bogdan; Schwenkreis, Peter; Lenz, Melanie; Nicolas, Volkmar; Maier, Christoph; Tegenthoff, Martin

    2014-01-01

    The complex regional pain syndrome (CRPS) is a rare but debilitating pain disorder that mostly occurs after injuries to the upper limb. A number of studies indicated altered brain function in CRPS, whereas possible influences on brain structure remain poorly investigated. We acquired structural magnetic resonance imaging data from CRPS type I patients and applied voxel-by-voxel statistics to compare white and gray matter brain segments of CRPS patients with matched controls. Patients and controls were statistically compared in two different ways: First, we applied a 2-sample ttest to compare whole brain white and gray matter structure between patients and controls. Second, we aimed to assess structural alterations specifically of the primary somatosensory (S1) and motor cortex (M1) contralateral to the CRPS affected side. To this end, MRI scans of patients with left-sided CRPS (and matched controls) were horizontally flipped before preprocessing and region-of-interest-based group comparison. The unpaired ttest of the "non-flipped" data revealed that CRPS patients presented increased gray matter density in the dorsomedial prefrontal cortex. The same test applied to the "flipped" data showed further increases in gray matter density, not in the S1, but in the M1 contralateral to the CRPS-affected limb which were inversely related to decreased white matter density of the internal capsule within the ipsilateral brain hemisphere. The gray-white matter interaction between motor cortex and internal capsule suggests compensatory mechanisms within the central motor system possibly due to motor dysfunction. Altered gray matter structure in dorsomedial prefrontal cortex may occur in response to emotional processes such as pain-related suffering or elevated analgesic top-down control.