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261 records – page 1 of 27.

[47,XYY syndrome. Is diagnosis of significance?]

https://arctichealth.org/en/permalink/ahliterature33871
Source
Tidsskr Nor Laegeforen. 1998 Apr 20;118(10):1563-4
Publication Type
Article
Date
Apr-20-1998
Author
O B Kittang
P. Vesterhus
Author Affiliation
Barneavdelingen Vest-Agder sentralsykehus, Kristiansand.
Source
Tidsskr Nor Laegeforen. 1998 Apr 20;118(10):1563-4
Date
Apr-20-1998
Language
Norwegian
Publication Type
Article
Keywords
Body Height
Child
Child, Preschool
English Abstract
Growth
Humans
Infant
Male
Norway
Patient Education
Psychomotor Performance
Retrospective Studies
XYY Karyotype - diagnosis - psychology
Abstract
Over a 10-year period, from 1984-1995, in the Norwegian county of Vest-Agder, five patients in a paediatric clinic were diagnosed as having chromosome constitution 47,XYY. There are 1,250 males born a year in Vest-Agder. The patients were identified with bias, and not in a routine or prospective screening programme. All patients except one, a child who was diagnosed by chance at the age of one week; were admitted because of moderate conduct disorders or problems at school and striking tallness of stature. The half-brother of one of the 47,XYY boys had Klinefelter's syndrome 47,XYY. We conclude that identification of 47,XYY syndrome and information about it were of significance and help in counselling the patients and their families.
PubMed ID
9615584 View in PubMed
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Acute myeloid leukemia with complex hypodiploidy and loss of heterozygosity of 17p in a boy with Fanconi anemia.

https://arctichealth.org/en/permalink/ahliterature101073
Source
Ann Clin Lab Sci. 2011;41(1):66-70
Publication Type
Article
Date
2011
Author
Hye In Woo
Hee-Jin Kim
Soo Hyun Lee
Keon Hee Yoo
Hong Hoe Koo
Sun-Hee Kim
Author Affiliation
Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Source
Ann Clin Lab Sci. 2011;41(1):66-70
Date
2011
Language
English
Publication Type
Article
Keywords
Child, Preschool
Chromosomes, Human, Pair 17 - genetics
Diploidy
Fanconi Anemia - complications - genetics - pathology
Fatal Outcome
Humans
Karyotyping
Leukemia, Myeloid, Acute - complications - genetics - pathology
Loss of Heterozygosity - genetics
Male
Abstract
Fanconi anemia (FA) is a congenital bone marrow failure syndrome in association with increased susceptibility to malignancy. We report the first in-depth description of a boy with FA who developed acute myeloid leukemia with complex hypodiploidy karyotype after successful stem cell transplantation. Of note, the leukemic cells consistently showed loss of heterozygosity (LOH) of the short arm of chromosome 17 (17p), which harbors the TP53 tumor suppressor gene. The complex hypodiploidy karyotype of the leukemic cells with LOH for 17p may represent a unique karyotypic profile that reflects genomic instability and thereby confers poor prognosis.
PubMed ID
21325258 View in PubMed
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Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/- palate.

https://arctichealth.org/en/permalink/ahliterature104734
Source
Arch Dis Child Fetal Neonatal Ed. 2014 Jul;99(4):F286-90
Publication Type
Article
Date
Jul-2014
Author
Lindsay Burnell
Cynthia Verchere
Denise Pugash
Christine Loock
Sandra Robertson
Anna Lehman
Source
Arch Dis Child Fetal Neonatal Ed. 2014 Jul;99(4):F286-90
Date
Jul-2014
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - diagnosis - epidemiology - genetics
British Columbia - epidemiology
Chromosome Aberrations
Cleft Lip - epidemiology - genetics - ultrasonography
Cleft Palate - epidemiology - genetics - ultrasonography
Developmental Disabilities - diagnosis - epidemiology - genetics
Female
Follow-Up Studies
Humans
Infant, Newborn
Karyotyping
Male
Pregnancy
Prognosis
Retrospective Studies
Syndrome
Ultrasonography, Prenatal
Abstract
Cleft lip with or without palate (CLP) can be diagnosed antenatally through ultrasound, and may be categorised as apparently isolated versus associated with other malformations. Limited data exist on the long-term outcomes following antenatal diagnosis of apparently isolated CLP.
This study examined the long-term post-natal outcomes of CLP when found in isolation antenatally, in order to determine the rates of unexpected additional anomalies, developmental delay or genetic syndromes.
A retrospective chart review of antenatal and post-natal medical charts was completed for a ten-year period between January 2000 and December 2009. At least 2 years of available post-natal clinical information was required for inclusion in the study.
A total of 97 cases of antenatally isolated CLP were ascertained. Fifteen pregnancies were terminated. Follow-up data were available for 81 liveborns, though 4 were lost to follow-up prior to 2 years of age. Twelve of the 77 children meeting study criteria were identified to have other major malformations and/or developmental disability either later in the pregnancy or post-natally. Findings included familial clefting syndromes, trisomy 21, autism spectrum disorders, brain malformations, fetal alcohol syndrome and Kabuki syndrome, among other findings. Another 11 children had additional anomalies of minor impact. Examples of findings include a perimembranous ventricular septal defect, mild unilateral optic nerve hypoplasia, mild pulmonary artery stenosis with a small atrial septal defect, and transient delays in fine and gross motor skills. No children with clefting of the lip only had major additional diagnoses.
PubMed ID
24625434 View in PubMed
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[Age dymamics of stable chromosome aberration frequency in humans with natural and pathological senescence]

https://arctichealth.org/en/permalink/ahliterature29866
Source
Tsitologiia. 2004;46(12):1030-4
Publication Type
Article
Date
2004
Author
I E Vorobtsova
A Iu Kanaeva
I A Petrova
A V Semenov
N M Pleskach
I M Spivak
G A Timonina
V V Prokof'eva
N M Iartseva
V M Mikhel'son
Source
Tsitologiia. 2004;46(12):1030-4
Date
2004
Language
Russian
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Aging - blood - genetics
Child
Child, Preschool
Chromosome Aberrations
Chromosomes, Human, Pair 1 - genetics
Chromosomes, Human, Pair 12 - genetics
Chromosomes, Human, Pair 4 - genetics
Chromosomes, Human, Pair 8 - genetics
Comparative Study
English Abstract
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Leukocytes, Mononuclear - radiation effects
Middle Aged
Progeria - blood - genetics
Ukraine
Werner Syndrome - blood - genetics
Abstract
The age dynamics of stable chromosome aberration (SCA) frequency was analysed by fluorescent in situ hybridization (FISH) in human blood lymphocytes derived from donors, irradiated by low doses of ionizing radiation (Chernobyl clean-up workers, nuclear weapon testers, etc.) and patients with hereditary premature aging--Werner's syndrome and Hutchinson-Gilford's syndrome. It was found that the level of SCA was age-dependent and increased in irradiated persons. So, the SCA level may be really an index of a so-called "radiation senescence", and may show a real biological age of irradiated persons. The patients with Werner's syndrome demonstrate increased SCA level in blood lymphocytes, corresponding to the premature aging of the organisms. But in the case of another form of premature aging--Hutchinson--Gilford's syndrome-- no rise of SCA level was found. Some possible reasons of such results are discussed.
PubMed ID
15747832 View in PubMed
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[Analysis of the patient contingent at a specialized pediatric clinic].

https://arctichealth.org/en/permalink/ahliterature234031
Source
Zh Nevropatol Psikhiatr Im S S Korsakova. 1988;88(8):22-5
Publication Type
Article
Date
1988
Author
S I Kozlova
V G Zhdanov
R S Patiutko
O E Blinnikova
N S Demikova
Source
Zh Nevropatol Psikhiatr Im S S Korsakova. 1988;88(8):22-5
Date
1988
Language
Russian
Publication Type
Article
Keywords
Child, Preschool
Congenital Abnormalities - diagnosis - epidemiology - genetics
Genetic Diseases, Inborn - diagnosis - epidemiology - genetics
Hospitals, Pediatric
Hospitals, Special
Humans
Infant
Infant, Newborn
Karyotyping
Male
Moscow
Syndrome
Abstract
Clinico-syndromologic, cytogenetic and biochemical screening embraced 330 patients of a specialized pediatric clinic. Of all cases of diseases 78.8% were either fully or partially accounted for by hereditary factors: 54% chromosome-related syndromes, 5.2% monogenic syndromes, 3.6% nonclassified combinations of developmental anomalies 16% isolated congenital defects of development. Others (21.2%) displayed the organic CNS defects, embryo- and fetopathies due to environmental impacts. The study resulted in diagnosis changes in 6.7% of the cases and identification of 14 hereditary syndromes. The prevalence of hereditary pathology in the morbidity structure of this contingent strongly suggests the necessity of medical genetic consultation in their families.
PubMed ID
3195277 View in PubMed
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[An analysis of the asynchronous condensation of homologous chromosomes in patients with chromosomal anomalies and their parents]

https://arctichealth.org/en/permalink/ahliterature33760
Source
Tsitol Genet. 1998 Jan-Feb;32(1):83-9
Publication Type
Article
Author
O O Vaniurikhina
Source
Tsitol Genet. 1998 Jan-Feb;32(1):83-9
Language
Ukrainian
Publication Type
Article
Keywords
Abnormalities, Multiple - genetics
Adult
Child
Chromosome Aberrations - genetics
Chromosome Banding
Chromosome Disorders
Comparative Study
English Abstract
Humans
Karyotyping
Lymphocytes - cytology
Metaphase
Abstract
The aim of investigation was to study asynchronous condensation of differentially segmented homologous chromosomes in lymphocytes of peripheral blood, as a variant of karyotype instability in families which has a children with multiple malformations and cytogenetic defects. Automatically calculated the correlation between every pair of homologous chromosomes. After that we made the correlation diagrams for all patients. Our study showed that children with multiple malformations and cytogenetic defects and their parents has low correlation of banding structure between homologs. The length and segmentation one of homologs in every pair is conform to more early condensation stage. We made a conclusion about presence of asynchronous condensation homologous chromosome. As a control we perform the same investigation of 6 families with healthy children. We found high correlation between homologous chromosomes, namely synchronous condensation homologous pairs in all patients of this group. Asynchronous condensation was found only in all members of families which has a child with cytogenetic defect.
PubMed ID
9695257 View in PubMed
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An international system for human cytogenetic nomenclature (1978), ISCN (1978). Report of the Standing Committee on Human Cytogenetic Nomenclature.

https://arctichealth.org/en/permalink/ahliterature249148
Source
Birth Defects Orig Artic Ser. 1978;14(8):313-404
Publication Type
Article
Date
1978

Assessment of an efficient xeno-free culture system of human periodontal ligament stem cells.

https://arctichealth.org/en/permalink/ahliterature266376
Source
Tissue Eng Part C Methods. 2015 Jan;21(1):52-64
Publication Type
Article
Date
Jan-2015
Author
Oriana Trubiani
Adriano Piattelli
Valentina Gatta
Marco Marchisio
Francesca Diomede
Marco D'Aurora
Ilaria Merciaro
Laura Pierdomenico
Nadir Mario Maraldi
Nicoletta Zini
Source
Tissue Eng Part C Methods. 2015 Jan;21(1):52-64
Date
Jan-2015
Language
English
Publication Type
Article
Keywords
Adult
Cell Culture Techniques - methods
Cell Differentiation
Cell Proliferation
Cell Shape
Cells, Cultured
Flow Cytometry
Gene Expression Regulation
Humans
Immunophenotyping
Karyotyping
Multipotent Stem Cells - cytology
Osteogenesis - genetics
Periodontal Ligament - cytology
Stem Cells - cytology - ultrastructure
Young Adult
Abstract
The possibility of transplanting adult stem cells into damaged organs has opened new prospects for the treatment of several human pathologies. The purpose of this study was to develop a culture system for the expansion and production of human Periodontal Ligament Stem Cells (hPDLSCs) using a new xeno-free media formulation and ensuring the maintenance of the stem cells features comprising the multiple passage expansion, mesengenic lineage differentiation, cellular phenotype, and genomic stability, essential elements for conforming to translation to cell therapy. Somatic stem cells were isolated from the human periodontium using a minimally invasive periodontal access flap surgery in healthy donors. Expanded hPDLSCs in a xeno-free culture showed the morphological features of stem cells, expressed the markers associated with pluripotency, and a normal karyotype. Under appropriate culture conditions, hPDLSCs presented adipogenic and osteogenic potential; indeed, a very high accumulation of lipid droplets was evident in the cytoplasm of adipogenic-induced cells, and indisputable evidence of osteogenic differentiation, investigated by transmission electron microscopy, and analyzed for gene expression analysis has been shown. Based on these data, the novel xeno-free culture method might provide the basis for Good Manufacturing Procedure culture of autologous stem cells, readily accessible from human periodontium, and can be a resource to facilitate their use in human clinical studies for potential therapeutic regeneration.
Notes
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PubMed ID
24787358 View in PubMed
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261 records – page 1 of 27.