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  1. Article ; Online: Autism and Down syndrome: early identification and diagnosis.

    Diniz, Natália Lisce Fioravante / Parlato-Oliveira, Erika / Pimenta, Priscila Gonçalves Ayres / Araújo, Liubiana Arantes de / Valadares, Eugênia Ribeiro

    Arquivos de neuro-psiquiatria

    2022  Volume 80, Issue 6, Page(s) 620–630

    Abstract: Background: The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype are related to DS and which are related to ASD. Objective: To conduct a ... ...

    Abstract Background: The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype are related to DS and which are related to ASD. Objective: To conduct a systematic review of the literature on early identification and diagnosis of ASD in patients with DS. Data source: The VHL, MEDLINE, Cochrane, CINAHL, Scopus, Web of Science and Embase databases were searched and data were evaluated using PRISMA. Data synthesis: Out of 1,729 articles evaluated, 15 were selected. Although well studied, identification of ASD in DS can be difficult because of the need to understand which aspects of the behavioral phenotype are related to Down syndrome and which to autism. In this review, the prevalence of ASD was found to range from 12% to 41%. Early identification of autism risk in individuals with Down syndrome is still poorly studied, even though there are screening instruments for infants. Several instruments for diagnosing autism in individuals with Down syndrome were found, but a developmental approach is fundamental for making a clear diagnosis. Conclusions: Screening procedures are important for detecting early signs of autism risk in the first year of life. Careful evaluation methods are needed to establish the diagnosis, which include choosing appropriate tools for evaluation of development and cognition, and analysis of qualitative aspects of social interaction, among others. It has been indicated in the literature that early detection and timely accurate diagnosis, in association with an intervention, may benefit development, quality of life and social inclusion.
    MeSH term(s) Autism Spectrum Disorder/diagnosis ; Autism Spectrum Disorder/epidemiology ; Autism Spectrum Disorder/genetics ; Autistic Disorder/diagnosis ; Down Syndrome/complications ; Down Syndrome/diagnosis ; Down Syndrome/epidemiology ; Early Diagnosis ; Humans ; Quality of Life
    Language English
    Publishing date 2022-08-10
    Publishing country Germany
    Document type Journal Article ; Systematic Review
    ZDB-ID 418916-4
    ISSN 1678-4227 ; 0004-282X
    ISSN (online) 1678-4227
    ISSN 0004-282X
    DOI 10.1590/0004-282X-ANP-2021-0156
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  2. Article ; Online: Mother's sense of coherence and dental characteristics in children and adolescents with osteogenesis imperfecta: A paired study.

    Teixeira, Suélen Alves / Santos, Paula Carolina Mendes / Carneiro, Túlio Canella Bezerra / Paiva, Saul Martins / Valadares, Eugênia Ribeiro / Borges-Oliveira, Ana Cristina

    Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry

    2021  Volume 41, Issue 2, Page(s) 170–177

    Abstract: Background: The relevance of sense of coherence (SOC) is important to the wellbeing of parents, especially mothers of children and adolescents with osteogenesis imperfecta (OI).: Objective: Determine whether the oral health status of children/ ... ...

    Abstract Background: The relevance of sense of coherence (SOC) is important to the wellbeing of parents, especially mothers of children and adolescents with osteogenesis imperfecta (OI).
    Objective: Determine whether the oral health status of children/adolescents with OI is associated with mother's SOC.
    Materials and method: A paired cross-sectional study was conducted with 37 children/adolescents with OI, 37 without OI, and their respective mothers. The children/adolescents were between two and 19 years of age, mean age 7.2 years, being 47 male and 27 female. The mothers completed Antonovsky's SOC questionnaire (SOC-13), and the oral status of the children/adolescents was investigated. The following clinical conditions were evaluated: dentinogenesis imperfecta, malocclusion, gingivitis, and dental caries experience.
    Results: The genetic condition of the children was significantly associated with mother's SOC (P < .001). Mothers of children with OI had lower SOC scores (mean: 35.6 [± 4.9]) than mothers of children without OI (mean: 38.5 [± 4.3]). In the group with OI, a low socioeconomic status was associated with lower mother's SOC scores (P = .004). In both groups, dental caries experience was associated with lower mother's SOC scores (P = .007). Most individuals with OI presented malocclusion (78.3%) and experience of dental caries (59.4%).
    Conclusion: Having a child with OI influenced the sense of coherence of the mothers. Socioeconomic status and dental caries experience in children and adolescents with OI were associated with mother's SOC.
    MeSH term(s) Adolescent ; Child ; Cross-Sectional Studies ; Dental Caries ; Female ; Humans ; Male ; Mothers ; Oral Health ; Osteogenesis Imperfecta ; Sense of Coherence
    Language English
    Publishing date 2021-01-13
    Publishing country United States
    Document type Journal Article
    ZDB-ID 604118-8
    ISSN 1754-4505 ; 0275-1879
    ISSN (online) 1754-4505
    ISSN 0275-1879
    DOI 10.1111/scd.12560
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  3. Article: Autism and Down syndrome: early identification and diagnosis

    Diniz, Natália Lisce Fioravante / Parlato-Oliveira, Erika / Pimenta, Priscila Gonçalves Ayres / Araújo, Liubiana Arantes de / Valadares, Eugênia Ribeiro

    Arquivos de Neuro-Psiquiatria

    2022  Volume 80, Issue 06, Page(s) 620–630

    Abstract: Background: The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype are related to DS and which are related to ASD. : Objective: To ... ...

    Abstract Background: The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype are related to DS and which are related to ASD.
    Objective: To conduct a systematic review of the literature on early identification and diagnosis of ASD in patients with DS.
    Data source: The VHL, MEDLINE, Cochrane, CINAHL, Scopus, Web of Science and Embase databases were searched and data were evaluated using PRISMA.
    Data synthesi: s: Out of 1,729 articles evaluated, 15 were selected. Although well studied, identification of ASD in DS can be difficult because of the need to understand which aspects of the behavioral phenotype are related to Down syndrome and which to autism. In this review, the prevalence of ASD was found to range from 12% to 41%. Early identification of autism risk in individuals with Down syndrome is still poorly studied, even though there are screening instruments for infants. Several instruments for diagnosing autism in individuals with Down syndrome were found, but a developmental approach is fundamental for making a clear diagnosis.
    Conclusions: Screening procedures are important for detecting early signs of autism risk in the first year of life. Careful evaluation methods are needed to establish the diagnosis, which include choosing appropriate tools for evaluation of development and cognition, and analysis of qualitative aspects of social interaction, among others. It has been indicated in the literature that early detection and timely accurate diagnosis, in association with an intervention, may benefit development, quality of life and social inclusion.
    Keywords Autism Spectrum Disorder ; Down Syndrome ; Diagnosis ; Transtorno do Espectro Autista ; Síndrome de Down ; Diagnóstico
    Language English
    Publishing date 2022-06-01
    Publisher Thieme Revinter Publicações Ltda.
    Publishing place Stuttgart ; New York
    Document type Article
    ZDB-ID 418916-4
    ISSN 1678-4227 ; 0004-282X
    ISSN (online) 1678-4227
    ISSN 0004-282X
    DOI 10.1590/0004-282X-ANP-2021-0156
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  4. Article ; Online: De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.

    Li, Dong / Strong, Alanna / Shen, Kaitlyn M / Cassiman, David / Van Dyck, Maria / Linhares, Natalia Duarte / Valadares, Eugenia Ribeiro / Wang, Tiancheng / Pena, Sergio D J / Jaeken, Jaak / Vergano, Samantha / Zackai, Elaine / Hing, Anne / Chow, Penny / Ganguly, Arupa / Scholz, Tasja / Bierhals, Tatjana / Philipp, Deindl / Hakonarson, Hakon /
    Bhoj, Elizabeth

    Genetics in medicine : official journal of the American College of Medical Genetics

    2020  Volume 23, Issue 4, Page(s) 637–644

    Abstract: Purpose: Hardikar syndrome (MIM 612726) is a rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, and intestinal malrotation, but with preserved cognition. Only four patients have been ... ...

    Abstract Purpose: Hardikar syndrome (MIM 612726) is a rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, and intestinal malrotation, but with preserved cognition. Only four patients have been reported previously, and none had a molecular diagnosis. Our objective was to identify the genetic basis of Hardikar syndrome (HS) and expand the phenotypic spectrum of this disorder.
    Methods: We performed exome sequencing on two previously reported and five unpublished female patients with a clinical diagnosis of HS. X-chromosome inactivation (XCI) studies were also performed.
    Results: We report clinical features of HS with previously undescribed phenotypes, including a fatal unprovoked intracranial hemorrhage at age 21. We additionally report the discovery of de novo pathogenic nonsense and frameshift variants in MED12 in these seven individuals and evidence of extremely skewed XCI in all patients with informative testing.
    Conclusion: Pathogenic missense variants in the X-chromosome gene MED12 have previously been associated with Opitz-Kaveggia syndrome, Lujan syndrome, Ohdo syndrome, and nonsyndromic intellectual disability, primarily in males. We propose a fifth, female-specific phenotype for MED12, and suggest that nonsense and frameshift loss-of-function MED12 variants in females cause HS. This expands the MED12-associated phenotype in females beyond intellectual disability.
    MeSH term(s) Adult ; Cholestasis ; Cleft Palate ; Female ; Genes, X-Linked ; Humans ; Intellectual Disability/genetics ; Mediator Complex/genetics ; Mental Retardation, X-Linked/genetics ; Phenotype ; Retinitis Pigmentosa ; Young Adult
    Chemical Substances MED12 protein, human ; Mediator Complex
    Language English
    Publishing date 2020-11-27
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/s41436-020-01031-7
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  5. Article ; Online: Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter.

    Missaglia, Sara / Valadares, Eugenia Ribeiro / Moro, Laura / Faguntes, Eleonora Druve Tavares / Quintão Roque, Raquel / Giardina, Bruno / Tavian, Daniela

    BMC medical genetics

    2014  Volume 15, Page(s) 32

    Abstract: Background: α/β-hydrolase domain-containing protein 5 (ABHD5) plays an important role in the triacylglycerols (TAG) hydrolysis. Indeed, ABHD5 is the co-activator of adipose triglyceride lipase (ATGL), that catalyses the initial step of TAG hydrolysis. ... ...

    Abstract Background: α/β-hydrolase domain-containing protein 5 (ABHD5) plays an important role in the triacylglycerols (TAG) hydrolysis. Indeed, ABHD5 is the co-activator of adipose triglyceride lipase (ATGL), that catalyses the initial step of TAG hydrolysis. Mutations in ABHD5 gene are associated with the onset of Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive lipid storage disorder, characterized by non-bullous congenital ichthyosiform erythroderma (NCIE), hepatomegaly and liver steatosis.
    Case presentation: We describe here a 5-years-old Brazilian child who presented with NCIE at birth and diffuse micro and macro-vesicular steatosis on liver biopsy since she was 2 years old. Molecular analysis of coding sequence and putative 5' regulatory region of ABHD5 gene was performed. A homozygous novel deletion, affecting the promoter region and the exon 1, was identified, confirming the suspected diagnosis of CDS for this patient. RT-PCR analysis showed that the genomic rearrangement completely abolished the ABHD5 gene expression in the patient, while only a partial loss of expression was detected in her parents. This is the first report describing the identification of a large deletion encompassing the promoter region of ABHD5 gene. The total loss of ABHD5 expression may explain the early onset of CDS and the severe liver involvement. After molecular diagnosis, the patient started a special diet, poor in fatty acids with medium chain triglycerides (MCT), and showed hepatic and dermatologic improvement in spite of severe molecular defect.
    Conclusions: This case report extends the spectrum of disease-causing ABHD5 mutations in CDS providing evidence for a novel pathogenic mechanism for this rare disorder. Moreover, our preliminary data show that early diagnosis and prompt treatment of neutral lipid accumulation might be useful for CD patients.
    MeSH term(s) 1-Acylglycerol-3-Phosphate O-Acyltransferase/genetics ; Base Sequence ; Child, Preschool ; DNA Mutational Analysis ; Fatty Liver/diagnosis ; Fatty Liver/genetics ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; INDEL Mutation ; Ichthyosiform Erythroderma, Congenital/diagnosis ; Ichthyosiform Erythroderma, Congenital/genetics ; Lipid Metabolism, Inborn Errors/diagnosis ; Lipid Metabolism, Inborn Errors/genetics ; Molecular Diagnostic Techniques ; Muscular Diseases/diagnosis ; Muscular Diseases/genetics ; Promoter Regions, Genetic ; Translocation, Genetic
    Chemical Substances 1-Acylglycerol-3-Phosphate O-Acyltransferase (EC 2.3.1.51) ; ABHD5 protein, human (EC 2.3.1.51)
    Language English
    Publishing date 2014-03-14
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1471-2350
    ISSN (online) 1471-2350
    DOI 10.1186/1471-2350-15-32
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  6. Book ; Thesis: Genetische und klinische Untersuchungen bei Mukopolysaccharidosen

    Valadares, Eugenia Ribeiro

    1992  

    Author's details Eugenia Ribeiro Valadares
    Language German
    Size V, 56, 2 S, Ill., graph. Darst
    Edition [Mikrofiche-Ausg.]
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Univ., Diss.--Mainz, 1993
    Note Mikrofiche-Ausg.: 1993. 1 Mikrofiche : 24x
    Database Former special subject collection: coastal and deep sea fishing

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  7. Article: Hereditary fructose intolerance in Brazilian patients.

    Valadares, Eugênia Ribeiro / Cruz, Ana Facury da / Adelino, Talita Emile Ribeiro / Kanufre, Viviane de Cássia / Ribeiro, Maria do Carmo / Penido, Maria Goretti Moreira Guimarães / Peret Filho, Luciano Amedee / Valadares, Laís Maria Santos Valadares E

    Molecular genetics and metabolism reports

    2015  Volume 4, Page(s) 35–38

    Language English
    Publishing date 2015-06-15
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2015.05.007
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  8. Article: Córnea verticilata - marcador clínico da doença de Fabry: relato de caso.

    Cordeiro, Cynthia Azeredo / Oréfice, Fernando / Lasmar, Euler Pace / Santos, Helena Hollanda / Valadares, Eugênia Ribeiro

    Arquivos brasileiros de oftalmologia

    2007  Volume 70, Issue 4, Page(s) 701–705

    Abstract: Fabry's disease is a rare X-linked lysosomal storage disorder of glycosphingolipid (GL) metabolism, caused by a deficiency of alpha-galactosidase A activity. The progressive accumulation of GL in tissues results in the clinical manifestations of the ... ...

    Title translation Cornea verticillata - a clinical marker of Fabry disease: case report.
    Abstract Fabry's disease is a rare X-linked lysosomal storage disorder of glycosphingolipid (GL) metabolism, caused by a deficiency of alpha-galactosidase A activity. The progressive accumulation of GL in tissues results in the clinical manifestations of the disease, that are more evident in hemizygous males, and include angiokeratomas, acroparesthesia, cornea verticillata, cardiac and kidney involvement, cerebrovascular manifestations. A family with Fabry's disease including 2 female patients and 3 male patients is reported. The patients were submitted to complete medical history, ophthalmological examination and alpha-galactosidase activity test. Cornea verticillata was a constant finding in all patients. This demonstrates the important role of the ophtalmological examination for the diagnosis of Fabry's disease since the eye findings are so characteristic of the disease.
    MeSH term(s) Adult ; Aged ; Biomarkers ; Corneal Opacity/enzymology ; Corneal Opacity/genetics ; Diagnostic Techniques, Ophthalmological ; Fabry Disease/enzymology ; Fabry Disease/genetics ; Female ; Heterozygote ; Homozygote ; Humans ; Male ; Middle Aged ; Pedigree ; alpha-Galactosidase/blood
    Chemical Substances Biomarkers ; alpha-Galactosidase (EC 3.2.1.22)
    Language Portuguese
    Publishing date 2007-08-31
    Publishing country Brazil
    Document type Case Reports ; English Abstract ; Journal Article
    ZDB-ID 603915-7
    ISSN 0004-2749
    ISSN 0004-2749
    DOI 10.1590/s0004-27492007000400024
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

    Moosa, Shahida / Yamamoto, Guilherme L / Garbes, Lutz / Keupp, Katharina / Beleza-Meireles, Ana / Moreno, Carolina Araujo / Valadares, Eugenia Ribeiro / de Sousa, Sérgio B / Maia, Sofia / Saraiva, Jorge / Honjo, Rachel S / Kim, Chong Ae / Cabral de Menezes, Hamilton / Lausch, Ekkehart / Lorini, Pablo Villavicencio / Lamounier, Arsonval / Carniero, Tulio Canella Bezerra / Giunta, Cecilia / Rohrbach, Marianne /
    Janner, Marco / Semler, Oliver / Beleggia, Filippo / Li, Yun / Yigit, Gökhan / Reintjes, Nadine / Altmüller, Janine / Nürnberg, Peter / Cavalcanti, Denise P / Zabel, Bernhard / Warman, Matthew L / Bertola, Debora R / Wollnik, Bernd / Netzer, Christian

    American journal of human genetics

    2019  Volume 105, Issue 4, Page(s) 836–843

    Abstract: Osteogenesis imperfecta (OI) comprises a genetically heterogeneous group of skeletal fragility diseases. Here, we report on five independent families with a progressively deforming type of OI, in whom we identified four homozygous truncation or ... ...

    Abstract Osteogenesis imperfecta (OI) comprises a genetically heterogeneous group of skeletal fragility diseases. Here, we report on five independent families with a progressively deforming type of OI, in whom we identified four homozygous truncation or frameshift mutations in MESD. Affected individuals had recurrent fractures and at least one had oligodontia. MESD encodes an endoplasmic reticulum (ER) chaperone protein for the canonical Wingless-related integration site (WNT) signaling receptors LRP5 and LRP6. Because complete absence of MESD causes embryonic lethality in mice, we hypothesized that the OI-associated mutations are hypomorphic alleles since these mutations occur downstream of the chaperone activity domain but upstream of ER-retention domain. This would be consistent with the clinical phenotypes of skeletal fragility and oligodontia in persons deficient for LRP5 and LRP6, respectively. When we expressed wild-type (WT) and mutant MESD in HEK293T cells, we detected WT MESD in cell lysate but not in conditioned medium, whereas the converse was true for mutant MESD. We observed that both WT and mutant MESD retained the ability to chaperone LRP5. Thus, OI-associated MESD mutations produce hypomorphic alleles whose failure to remain within the ER significantly reduces but does not completely eliminate LRP5 and LRP6 trafficking. Since these individuals have no eye abnormalities (which occur in individuals completely lacking LRP5) and have neither limb nor brain patterning defects (both of which occur in mice completely lacking LRP6), we infer that bone mass accrual and dental patterning are more sensitive to reduced canonical WNT signaling than are other developmental processes. Biologic agents that can increase LRP5 and LRP6-mediated WNT signaling could benefit individuals with MESD-associated OI.
    MeSH term(s) Animals ; Female ; Genes, Recessive ; HEK293 Cells ; Humans ; Low Density Lipoprotein Receptor-Related Protein-5/metabolism ; Low Density Lipoprotein Receptor-Related Protein-6/metabolism ; Male ; Mice ; Molecular Chaperones/genetics ; Mutation ; Osteogenesis Imperfecta/genetics ; Pedigree ; Phenotype ; Wnt Signaling Pathway
    Chemical Substances LRP5 protein, human ; LRP6 protein, human ; Low Density Lipoprotein Receptor-Related Protein-5 ; Low Density Lipoprotein Receptor-Related Protein-6 ; MESD protein, human ; Molecular Chaperones
    Language English
    Publishing date 2019-09-26
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2019.08.008
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  10. Article ; Online: Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil.

    Valadares, Eugênia Ribeiro / Pizarro, Mayara Xavier / Oliveira, Luiz Roberto / Amorim, Regina Helena Caldas de / Pinheiro, Tarcísio Márcio Magalhães / Grieben, Ulrike / Santos, Helena Hollanda / Queiroz, Rachel Rabelo / Lopes, Guilherme de Castro / Godard, Ana Lúcia Brunialti

    Arquivos de neuro-psiquiatria

    2011  Volume 69, Issue 1, Page(s) 13–18

    Abstract: Objective: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of childhood. We report the clinical data and molecular analysis of a large Brazilian family.! ...

    Abstract Objective: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of childhood. We report the clinical data and molecular analysis of a large Brazilian family.
    Method: Family composed of two consanguineous couples and thirty-two children. Clinical data of ten JNCL patients and molecular analyses on 13 participants were obtained.
    Results: The large 1.02 kb deletion was detected. The most severe phenotype, with autistic behavior, tics and parkinsonism was seen in a 12-year-old female and a milder phenotype in a 14-year-old male. Nyctalopia was the first symptom in one deceased child. The visual loss of six patients has been first observed in the school and not at home.
    Conclusion: The report highlights the phenotypical intrafamily variation in 10 affected children of this family. The molecular investigation of this large family in our metabolic center turned possible the diagnosis, right approach and genetic counseling.
    MeSH term(s) Adolescent ; Brazil ; Cause of Death ; Child ; Consanguinity ; Electrophoresis, Agar Gel ; Exons/genetics ; Female ; Gene Deletion ; Humans ; Male ; Neuronal Ceroid-Lipofuscinoses/genetics ; Night Blindness/genetics ; Pedigree ; Phenotype ; Vision Disorders/genetics
    Language English
    Publishing date 2011-01-19
    Publishing country Brazil
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 418916-4
    ISSN 1678-4227 ; 0004-282X
    ISSN (online) 1678-4227
    ISSN 0004-282X
    DOI 10.1590/s0004-282x2011000100004
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