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  1. Article ; Online: Clinical validation of the nursing diagnosis "Risk for delayed child development".

    Melo, Nádia Proença de / Souza, Juliana Martins de / Cordeiro, Samara Macedo / Veríssimo, Maria de La Ó Ramallo

    Revista da Escola de Enfermagem da U S P

    2022  Volume 56, Page(s) e20220229

    Abstract: Objective: To validate clinically the risk factors of the nursing diagnosis "Risk for delayed child development".: Method: Cross-sectional quantitative study carried out in a specialty outpatient clinic and in family health units with 124 children. ... ...

    Abstract Objective: To validate clinically the risk factors of the nursing diagnosis "Risk for delayed child development".
    Method: Cross-sectional quantitative study carried out in a specialty outpatient clinic and in family health units with 124 children. The data was collected through interviews with the children's guardians to investigate the risk factors for delay in child development.
    Results: The tested risk factors affected 108 of the evaluated children (87.1%). In the accuracy tests, most specificity values were above 80% and sensitivity values were lower than 30%. Most risk factors had odds ratio >1, three of which were noteworthy: genetic disorder (OR = 38, p < 0.05) and congenital disorder (OR = 4.4, p < 0.05), among child-related aspects, and impaired cognitive development in parents (OR = 27, p < 0.05), among caregiver-related aspects.
    Conclusion: The study contributed to a refined diagnostic accuracy, identifying potential associated factors of the evaluated diagnosis.
    MeSH term(s) Humans ; Child Development ; Nursing Diagnosis ; Cross-Sectional Studies ; Parents/psychology ; Risk Factors
    Language Portuguese
    Publishing date 2022-12-16
    Publishing country Brazil
    Document type Journal Article
    ZDB-ID 2411320-7
    ISSN 1980-220X ; 1980-220X
    ISSN (online) 1980-220X
    ISSN 1980-220X
    DOI 10.1590/1980-220X-REEUSP-2022-0229en
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: The Molecular Role of Polyamines in Age-Related Diseases: An Update.

    Jimenez Gutierrez, Guadalupe Elizabeth / Borbolla Jiménez, Fabiola V / Muñoz, Luis G / Tapia Guerrero, Yessica Sarai / Murillo Melo, Nadia Mireya / Cristóbal-Luna, José Melesio / Leyva Garcia, Norberto / Cordero-Martínez, Joaquín / Magaña, Jonathan J

    International journal of molecular sciences

    2023  Volume 24, Issue 22

    Abstract: Polyamines (Pas) are short molecules that exhibit two or three amine groups that are positively charged at a physiological pH. These small molecules are present in high concentrations in a wide variety of organisms and tissues, suggesting that they play ... ...

    Abstract Polyamines (Pas) are short molecules that exhibit two or three amine groups that are positively charged at a physiological pH. These small molecules are present in high concentrations in a wide variety of organisms and tissues, suggesting that they play an important role in cellular physiology. Polyamines include spermine, spermidine, and putrescine, which play important roles in age-related diseases that have not been completely elucidated. Aging is a natural process, defined as the time-related deterioration of the physiological functions; it is considered a risk factor for degenerative diseases such as cardiovascular, neurodegenerative, and musculoskeletal diseases; arthritis; and even cancer. In this review, we provide a new perspective on the participation of Pas in the cellular and molecular processes related to age-related diseases, focusing our attention on important degenerative diseases such as Alzheimerߣs disease, Parkinsonߣs disease, osteoarthritis, sarcopenia, and osteoporosis. This new perspective leads us to propose that Pas function as novel biomarkers for age-related diseases, with the main purpose of achieving new molecular alternatives for healthier aging.
    MeSH term(s) Polyamines ; Spermidine ; Spermine/physiology ; Putrescine
    Chemical Substances Polyamines ; Spermidine (U87FK77H25) ; Spermine (2FZ7Y3VOQX) ; Putrescine (V10TVZ52E4)
    Language English
    Publishing date 2023-11-17
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms242216469
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  3. Article ; Online: Dp71 Point Mutations Induce Protein Aggregation, Loss of Nuclear Lamina Integrity and Impaired Braf35 and Ibraf Function in Neuronal Cells.

    Rugerio-Martínez, Claudia Ivette / Ramos, Daniel / Segura-Olvera, Abel / Murillo-Melo, Nadia Mireya / Tapia-Guerrero, Yessica Sarai / Argüello-García, Raúl / Leyva-García, Norberto / Hernández-Hernández, Oscar / Cisneros, Bulmaro / Suárez-Sánchez, Rocío

    International journal of molecular sciences

    2022  Volume 23, Issue 19

    Abstract: Dystrophin Dp71 is the most abundant product of the Duchenne muscular dystrophy gene in the nervous system, and mutations impairing its function have been associated with the neurodevelopmental symptoms present in a third of DMD patients. Dp71 is ... ...

    Abstract Dystrophin Dp71 is the most abundant product of the Duchenne muscular dystrophy gene in the nervous system, and mutations impairing its function have been associated with the neurodevelopmental symptoms present in a third of DMD patients. Dp71 is required for the clustering of neurotransmitter receptors and the neuronal differentiation of cultured cells; nonetheless, its precise role in neuronal cells remains to be poorly understood. In this study, we analyzed the effect of two pathogenic
    MeSH term(s) Dystroglycans/genetics ; Dystrophin/genetics ; Heterochromatin ; High Mobility Group Proteins/genetics ; High Mobility Group Proteins/metabolism ; Humans ; Lamins/genetics ; Neuroblastoma ; Neurons/metabolism ; Nuclear Lamina/metabolism ; Point Mutation ; Protein Aggregates ; Receptors, Neurotransmitter/genetics
    Chemical Substances Dystrophin ; HMG20B protein, human ; Heterochromatin ; High Mobility Group Proteins ; Lamins ; Protein Aggregates ; Receptors, Neurotransmitter ; apo-dystrophin 1 ; Dystroglycans (146888-27-9)
    Language English
    Publishing date 2022-10-06
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms231911876
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  4. Article ; Online: The irritant receptor TRPA1 mediates the mosquito repellent effect of catnip.

    Melo, Nadia / Capek, Matthew / Arenas, Oscar M / Afify, Ali / Yilmaz, Ayse / Potter, Christopher J / Laminette, Peter J / Para, Alessia / Gallio, Marco / Stensmyr, Marcus C

    Current biology : CB

    2021  Volume 31, Issue 9, Page(s) 1988–1994.e5

    Abstract: Catnip (Nepeta cataria) is a common garden herb well known for its euphoric and hallucinogenic effects on domestic cats, ...

    Abstract Catnip (Nepeta cataria) is a common garden herb well known for its euphoric and hallucinogenic effects on domestic cats,
    MeSH term(s) Aedes/genetics ; Animals ; Cats ; DEET/pharmacology ; Drosophila melanogaster/genetics ; Insect Repellents/pharmacology ; Irritants ; Nepeta
    Chemical Substances Insect Repellents ; Irritants ; DEET (134-62-3)
    Language English
    Publishing date 2021-03-04
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 1071731-6
    ISSN 1879-0445 ; 0960-9822
    ISSN (online) 1879-0445
    ISSN 0960-9822
    DOI 10.1016/j.cub.2021.02.010
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  5. Article ; Online: Aedes aegypti Mosquitoes Detect Acidic Volatiles Found in Human Odor Using the IR8a Pathway.

    Raji, Joshua I / Melo, Nadia / Castillo, John S / Gonzalez, Sheyla / Saldana, Valeria / Stensmyr, Marcus C / DeGennaro, Matthew

    Current biology : CB

    2019  Volume 29, Issue 8, Page(s) 1253–1262.e7

    Abstract: Mosquitoes use olfaction as a primary means of detecting their hosts. Previously, the functional ablation of a family of Aedes aegypti olfactory receptors, the odorant receptors (ORs), was not sufficient to reduce host seeking in the presence of carbon ... ...

    Abstract Mosquitoes use olfaction as a primary means of detecting their hosts. Previously, the functional ablation of a family of Aedes aegypti olfactory receptors, the odorant receptors (ORs), was not sufficient to reduce host seeking in the presence of carbon dioxide (CO
    MeSH term(s) Aedes/physiology ; Animals ; Chemotaxis ; Female ; Humans ; Insect Proteins/genetics ; Insect Proteins/metabolism ; Male ; Odorants ; Receptors, Ionotropic Glutamate/genetics ; Receptors, Ionotropic Glutamate/metabolism ; Volatile Organic Compounds/metabolism
    Chemical Substances Insect Proteins ; Receptors, Ionotropic Glutamate ; Volatile Organic Compounds
    Language English
    Publishing date 2019-03-28
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 1071731-6
    ISSN 1879-0445 ; 0960-9822
    ISSN (online) 1879-0445
    ISSN 0960-9822
    DOI 10.1016/j.cub.2019.02.045
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  6. Article ; Online: A Complete Association of an intronic SNP rs6798742 with Origin of Spinocerebellar Ataxia Type 7-CAG Expansion Loci in the Indian and Mexican Population.

    Faruq, Mohammed / Magaña, Jonathan J / Suroliya, Varun / Narang, Ankita / Murillo-Melo, Nadia M / Hernández-Hernández, Oscar / Srivastava, Achal K / Mukerji, Mitali

    Annals of human genetics

    2017  Volume 81, Issue 5, Page(s) 197–204

    Abstract: Spinocerebellar ataxia type 7 (SCA7) is a rare neurogenetic disorder caused by highly unstable CAG repeat expansion mutation in coding region of SCA7. We aimed to understand the effect of diverse ATXN7 cis-element in correlation with CAG expansion ... ...

    Abstract Spinocerebellar ataxia type 7 (SCA7) is a rare neurogenetic disorder caused by highly unstable CAG repeat expansion mutation in coding region of SCA7. We aimed to understand the effect of diverse ATXN7 cis-element in correlation with CAG expansion mutation of SCA7. We initially performed an analysis to identify the haplotype background of CAG expanded alleles using eight bi-allelic single nucleotide polymorphisms (SNPs) flanking an ATXN7-CAG expansion in 32 individuals from nine unrelated Indian SCA7 families and 88 healthy controls. Subsequent validation of the findings was performed in 89 ATXN7-CAG mutation carriers and in 119 unrelated healthy controls of Mexican ancestry. The haplotype analyses showed a shared haplotype background and C allele of SNP rs6798742 (approximately 6 kb from the 3'-end of CAG repeats) is in complete association with expanded, premutation, intermediate, and the majority of large normal (≥12) CAG allele. The C allele (ancestral/chimp allele) association was validated in SCA7 subjects and healthy controls from Mexico, suggesting its substantial association with CAG expanded and expansion-prone chromosomes. Analysis of rs6798742 and other neighboring functional SNPs within 6 kb in experimental datasets (Encyclopedia of DNA Elements; ENCODE) shows functional marks that could affect transcription as well as histone methylation. An allelic association of the CAG region to an intronic SNP in two different ethnic and geographical populations suggests a -cis factor-dependent mechanism in ATXN7 CAG-region expansion.
    Language English
    Publishing date 2017-09
    Publishing country England
    Document type Journal Article
    ZDB-ID 333-5
    ISSN 1469-1809 ; 0003-4800
    ISSN (online) 1469-1809
    ISSN 0003-4800
    DOI 10.1111/ahg.12200
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  7. Article ; Online: Oropharyngeal dysphagia in early stages of myotonic dystrophy type 1.

    Franco-Guerrero, Amalia A / Márquez-Quiroz, Luz C / Valadéz-Jiménez, Víctor M / Cortés, Hernán / Murillo-Melo, Nadia M / Muñoz, Balam / Cisneros, Bulmaro / Magaña, Jonathan J

    Muscle & nerve

    2019  Volume 60, Issue 1, Page(s) 90–95

    Abstract: Introduction: Myotonic dystrophy type 1 (DM1) is a multisystemic disorder characterized mainly by skeletal muscle alterations. Although oropharyngeal dysphagia is a prominent clinical feature of DM1, it remains poorly studied in its early disease stages. ...

    Abstract Introduction: Myotonic dystrophy type 1 (DM1) is a multisystemic disorder characterized mainly by skeletal muscle alterations. Although oropharyngeal dysphagia is a prominent clinical feature of DM1, it remains poorly studied in its early disease stages.
    Methods: Dysphagia was investigated in 11 presymptomatic DM1 carriers, 14 patients with DM1 and 12 age-matched healthy controls, by using fiberoptic endoscopic evaluation of swallowing (FEES) and clinical scores.
    Results: Scores for the FEES variables, delayed pharyngeal reflex, posterior pooling, and postswallow residue were significantly greater in patients with DM1 and in presymptomatic DM1 carriers than in healthy controls (P < 0.05); oropharyngeal dysfunction was more severe in patients than in presymptomatic carriers. Penetration/aspiration was found altered exclusively in patients with DM1 (P < 0.05).
    Discussion: Swallowing dysfunction occurs in presymptomatic DM1 carriers. Timely diagnosis of dysphagia in preclinical stages of the disease will aid in the timely management of presymptomatic carriers, potentially preventing medical complications. Muscle Nerve, 2019.
    MeSH term(s) Adolescent ; Adult ; Aged ; Asymptomatic Diseases ; Case-Control Studies ; Deglutition Disorders/etiology ; Deglutition Disorders/physiopathology ; Endoscopy, Digestive System ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Myotonic Dystrophy/complications ; Myotonic Dystrophy/genetics ; Myotonic Dystrophy/physiopathology ; Myotonin-Protein Kinase/genetics ; Young Adult
    Chemical Substances DMPK protein, human ; Myotonin-Protein Kinase (EC 2.7.11.1)
    Language English
    Publishing date 2019-05-06
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 438353-9
    ISSN 1097-4598 ; 0148-639X
    ISSN (online) 1097-4598
    ISSN 0148-639X
    DOI 10.1002/mus.26485
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    Zs.A 1449: Show issues Location:
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    Zs.MO 551: Show issues

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  8. Article ; Online: Geosmin Attracts Aedes aegypti Mosquitoes to Oviposition Sites.

    Melo, Nadia / Wolff, Gabriella H / Costa-da-Silva, Andre Luis / Arribas, Robert / Triana, Merybeth Fernandez / Gugger, Muriel / Riffell, Jeffrey A / DeGennaro, Matthew / Stensmyr, Marcus C

    Current biology : CB

    2019  Volume 30, Issue 1, Page(s) 127–134.e5

    Abstract: Geosmin is one of the most recognizable and common microbial smells on the planet. Some insects, like mosquitoes, require microbial-rich environments for their progeny, whereas for other insects such microbes may prove dangerous. In the vinegar fly ... ...

    Abstract Geosmin is one of the most recognizable and common microbial smells on the planet. Some insects, like mosquitoes, require microbial-rich environments for their progeny, whereas for other insects such microbes may prove dangerous. In the vinegar fly Drosophila melanogaster, geosmin is decoded in a remarkably precise fashion and induces aversion, presumably signaling the presence of harmful microbes [1]. We have here investigated the effect of geosmin on the behavior of the yellow fever mosquito Aedes aegypti. In contrast to flies, geosmin is not aversive but mediates egg-laying site selection. Female mosquitoes likely associate geosmin with microbes, including cyanobacteria consumed by larvae [2], who also find geosmin-as well as geosmin-producing cyanobacteria-attractive. Using in vivo multiphoton calcium imaging from transgenic PUb-GCaMP6s mosquitoes, we show that Ae. aegypti code geosmin in a qualitatively similar fashion to flies, i.e., through a single olfactory channel with a high degree of sensitivity for this volatile. We further demonstrate that geosmin can be used as bait under field conditions, and finally, we show that geosmin, which is both expensive and difficult to obtain, can be substituted by beetroot peel extract, providing a cheap and viable potential mean for mosquito control and surveillance in developing countries.
    MeSH term(s) Aedes/drug effects ; Aedes/growth & development ; Aedes/physiology ; Animals ; Chemotaxis ; Female ; Larva/drug effects ; Larva/growth & development ; Larva/physiology ; Naphthols/metabolism ; Oviposition/drug effects
    Chemical Substances Naphthols ; geosmin (MYW912WXJ4)
    Language English
    Publishing date 2019-12-12
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 1071731-6
    ISSN 1879-0445 ; 0960-9822
    ISSN (online) 1879-0445
    ISSN 0960-9822
    DOI 10.1016/j.cub.2019.11.002
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  9. Article ; Online: The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.

    Ballester-Lopez, Alfonsina / Linares-Pardo, Ian / Koehorst, Emma / Núñez-Manchón, Judit / Pintos-Morell, Guillem / Coll-Cantí, Jaume / Almendrote, Miriam / Lucente, Giuseppe / Arbex, Andrea / Magaña, Jonathan J / Murillo-Melo, Nadia M / Lucia, Alejandro / Monckton, Darren G / Cumming, Sarah A / Ramos-Fransi, Alba / Martínez-Piñeiro, Alicia / Nogales-Gadea, Gisela

    Genes

    2020  Volume 11, Issue 7

    Abstract: The number of cytosine-thymine-guanine (CTG) repeats ('CTG expansion size') in the 3'untranslated region (UTR) region of ... ...

    Abstract The number of cytosine-thymine-guanine (CTG) repeats ('CTG expansion size') in the 3'untranslated region (UTR) region of the
    MeSH term(s) 3' Untranslated Regions ; Age of Onset ; Genetic Testing/methods ; Genetic Testing/standards ; Humans ; Myotonic Dystrophy/diagnosis ; Myotonic Dystrophy/genetics ; Myotonin-Protein Kinase/genetics ; Polymerase Chain Reaction/methods ; Polymerase Chain Reaction/standards ; Reference Standards ; Trinucleotide Repeat Expansion
    Chemical Substances 3' Untranslated Regions ; DMPK protein, human ; Myotonin-Protein Kinase (EC 2.7.11.1)
    Language English
    Publishing date 2020-07-07
    Publishing country Switzerland
    Document type Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes11070757
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  10. Article: Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report.

    Magaña, Jonathan J / Tapia-Guerrero, Yessica S / Velázquez-Pérez, Luis / Cruz-Mariño, Tania / Cerecedo-Zapata, Cesar M / Gómez, Rocío / Murillo-Melo, Nadia M / González-Piña, Rigoberto / Hernández-Hernández, Oscar / Cisneros, Bulmaro

    International journal of clinical and experimental medicine

    2014  Volume 7, Issue 12, Page(s) 5896–5903

    Abstract: Spinocerebellar ataxia type 7 (SCA7) is a genetic disorder characterized by degeneration of the cerebellum, brainstem, and retina that is caused by abnormal expansion of a CAG repeat located in the ATXN7 gene encoding sequence on chromosome 3p21.1. ... ...

    Abstract Spinocerebellar ataxia type 7 (SCA7) is a genetic disorder characterized by degeneration of the cerebellum, brainstem, and retina that is caused by abnormal expansion of a CAG repeat located in the ATXN7 gene encoding sequence on chromosome 3p21.1. Although SCA7 is an uncommon autosomal dominant ataxia, we previously found increased prevalence of the disease in a Southeastern Mexican population. In this study, we described to our knowledge for the first time a marriage of consanguineous SCA7 mutation carriers and their offspring effect. We characterized a severely affected infantile-onset female patient whose parents and two siblings exhibited no symptoms of the disease at time of diagnosis. A comprehensive clinical analysis of the proband showed a progressive cerebellar syndrome, including gait ataxia, movement disorders, and saccadic movements, as well as hyperreflexia, visual deterioration, urinary and cardiovascular dysfunction, and impaired nerve conduction. The SCA7 mutation was detected in the proband patient. Subsequently, genetic examination using four ATXN7 gene-linked markers (three centromeric microsatellite markers [D3S1228, D3S1287, and D3S3635] and an intragenic Single Nucleotide Polymorphism [SNP-3145G/A]) revealed that the proband descends from a couple of consanguineous SCA7 mutation carriers. Genotyping analysis demonstrated that all offspring inherited only one mutant allele, and that the severe infantile-onset phenotype is caused by germinal expansion (from 37 to 72 CAG repeats) of the paternal mutant allele. Interestingly, the couple also referred a miscarriage. Finally, we found no CAA interruptions in the ATXN7 gene CAG repeats tract in this family, which might explain, at least in part, the triplet instability in the proband.
    Language English
    Publishing date 2014-12-15
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2418305-2
    ISSN 1940-5901
    ISSN 1940-5901
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