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Sample records for abnormal karyotype case

  1. Karyotyping

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    ... arrangement of the chromosomes. This is called a karyotype. Certain problems can be identified through the number ... order other tests that go together with a karyotype: Microarray: Looks at small changes in the chromosomes ...

  2. Submicroscopic chromosomal abnormalities in fetuses with increased nuchal translucency and normal karyotype.

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    Yang, Xin; Li, Ru; Fu, Fang; Zhang, Yongling; Li, Dongzhi; Liao, Can

    2017-01-01

    To investigate the submicroscopic chromosomal abnormalities in fetuses with increased nuchal translucency (NT) and normal karyotype. Total of 296 fetuses with increased NT (≥3.0 mm) were tested by conventional karyotyping. When cytogenetic analysis showed normal chromosome, the pregnancies were then consulted for array-comparative genomic hybridization (CGH) analysis and received subsequent morphology scan between 20 and 24 weeks gestation. Submicroscopic chromosomal abnormalities were assessed and compared between the fetuses with and without structural defects. Chromosomal abnormality was identified in 19.9% (59/296) fetuses. Two hundred and twenty samples were tested by array CGH. Submicroscopic chromosomal abnormalities were detected in 9.1% (20/220) fetuses. For the fetuses with abnormal morphology scan, the detection rate of submicroscopic chromosomal abnormalities was higher than those with normal morphology scan (26.9% versus 6.7%, p karyotype, especially when the structural defects were found at second or third trimester.

  3. Karyotypic abnormalities associated with Epstein-Barr virus status in classical Hodgkin lymphoma.

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    Montgomery, Nathan D; Coward, Wilborn B; Johnson, Steven; Yuan, Ji; Gulley, Margaret L; Mathews, Stephanie P; Kaiser-Rogers, Kathleen; Rao, Kathleen W; Sanger, Warren G; Sanmann, Jennifer N; Fedoriw, Yuri

    2016-09-01

    Classical Hodgkin lymphoma (CHL) is morphologically characterized by scattered malignant Hodgkin/Reed-Sternberg (HRS) cells that are far outnumbered by surrounding reactive hematolymphoid cells. Approximately half of all cases of CHL are associated with infection by Epstein-Barr virus (EBV), an oncogenic herpesvirus that expresses a number of proteins thought to contribute to transformation. While a small number of published studies have attempted to identify recurrent cytogenetic abnormalities in CHL, no large case series have explored karyotypic differences between EBV-positive and EBV-negative tumors. Here, we report a two-institution retrospective investigation of cytogenetic features characterizing CHL. In our cohort, cases of EBV-negative CHL were characterized by more complex routine karyotypes than their EBV-positive counterparts (24.6 versus 15.6 independent aberrations per case, P = 0.009). The increased complexity of EBV-negative cases was driven by a number of features suggestive of genomic instability, including a larger number of independent chromosomal breakpoints (P = 0.03) and apparently aneuploid autosomes (P = 0.008). Compelling but nonsignificant trends also suggest a larger modal number and increased marker chromosomes in EBV-negative cases (P = 0.13 and 0.06, respectively). While some of these differences are related to histologic subtype, others appear independent of histology. Finally, a significant subset of EBV-positive tumors has a surprisingly simple karyotype relative to what is normally seen in CHL, an observation suggesting considerable biological and genetic diversity in this disease. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Prognostic Effect of Complex Karyotype, Monosomal Karyotype, and Chromosome 17 Abnormalities in B-Cell Acute Lymphoblastic Leukemia.

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    Khoral, Priya; Atenafu, Eshetu G; Craddock, Kenneth J; Schimmer, Aaron; Chang, Hong

    2017-04-01

    The effect of monosomal karyotype (MK), complex karyotype (CK), and chromosome 17 abnormalities (abnl 17) on prognosis in B-cell acute lymphoid leukemia (B-ALL) has not yet been established. We conducted a retrospective analysis of prognostic factors on 237 adult patients with B-ALL treated at our institution. Older age (older than 60 years), higher white blood cell count (> 30), and abnl 17 were associated with shorter overall survival in univariate analysis, but multivariable analysis only identified older age as an independent poor prognostic actor. There was a significant correlation between abnl 17 and older age. In contrast to the patients with acute myeloid leukemia, our results show that MK and CK do not play a predictive role in patients with B-ALL, but further study is required to determine whether specific changes on chromosome 17 might have prognostic value when investigated separately. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Robin sequence associated with karyotypic mosaicism involving chromosome 22 abnormalities

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    Salinas, C.F.; Jastrzab, J.M.; Centu, E.S. [Medical Univ. of South Carolina, Charleston, SC (United States)

    1994-09-01

    Robin sequence is characterized by cleft palate, hypoplastic mandible, glossoptosis and respiratory difficulties. The Robin sequence may be observed as an isolated defect or as part of about 33 syndromes; however, to our knowledge, it has never been reported associated with chromosome 22 abnormalities. We examined a two-month-old black boy with a severe case of Robin sequence. Exam revealed a small child with hypoplastic mandible, glossoptosis, high palate and respiratory difficulty with continuous apnea episodes resulting in cyanotic lips and nails. In order to relieve the upper airway obstruction, his tongue was attached to the lower lip. Later a tracheostomy was performed. On follow-up exam, this patient was found to have developmental delay. Cytogenetic studies of both peripheral blood and fibroblast cells showed mosaicism involving chromosome 22 abnormalities which were designated as follows: 45,XY,-22/46,XY,-22,+r(22)/46,XY. Fluorescence in situ hybridization (FISH) studies confirmed the identity of the r(22) and showed the presence of the DiGeorge locus (D22575) but the absence of the D22539 locus which maps to 22q13.3. Reported cases of r(22) show no association with Robin sequence. However, r(22) has been associated with flat bridge of the nose, bulbous tip of the nose, epicanthus and high palate, all characteristics that we also observed in this case. These unusual cytogenetic findings may be causally related to the dysmorphology found in the patient we report.

  6. Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

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    Anguiano Arturo

    2012-01-01

    Full Text Available Abstract Spectral karyotyping is a diagnostic tool that allows visualization of chromosomes in different colors using the FISH technology and a spectral imaging system. To assess the value of spectral karyotyping analysis for identifying constitutional supernumerary marker chromosomes or derivative chromosomes at a national reference laboratory, we reviewed the results of 179 consecutive clinical samples (31 prenatal and 148 postnatal submitted for spectral karyotyping. Over 90% of the cases were requested to identify either small supernumerary marker chromosomes (sSMCs or chromosomal exchange material detected by G-banded chromosome analysis. We also reviewed clinical indications of those cases with marker chromosomes in which chromosomal origin was identified by spectral karyotyping. Our results showed that spectral karyotyping identified the chromosomal origin of marker chromosomes or the source of derivative chromosomal material in 158 (88% of the 179 clinical cases; the identification rate was slightly higher for postnatal (89% compared to prenatal (84% cases. Cases in which the origin could not be identified had either a small marker chromosome present at a very low level of mosaicism (

  7. OneD: increasing reproducibility of Hi-C samples with abnormal karyotypes.

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    Vidal, Enrique; le Dily, François; Quilez, Javier; Stadhouders, Ralph; Cuartero, Yasmina; Graf, Thomas; Marti-Renom, Marc A; Beato, Miguel; Filion, Guillaume J

    2018-01-31

    The three-dimensional conformation of genomes is an essential component of their biological activity. The advent of the Hi-C technology enabled an unprecedented progress in our understanding of genome structures. However, Hi-C is subject to systematic biases that can compromise downstream analyses. Several strategies have been proposed to remove those biases, but the issue of abnormal karyotypes received little attention. Many experiments are performed in cancer cell lines, which typically harbor large-scale copy number variations that create visible defects on the raw Hi-C maps. The consequences of these widespread artifacts on the normalized maps are mostly unexplored. We observed that current normalization methods are not robust to the presence of large-scale copy number variations, potentially obscuring biological differences and enhancing batch effects. To address this issue, we developed an alternative approach designed to take into account chromosomal abnormalities. The method, called OneD, increases reproducibility among replicates of Hi-C samples with abnormal karyotype, outperforming previous methods significantly. On normal karyotypes, OneD fared equally well as state-of-the-art methods, making it a safe choice for Hi-C normalization. OneD is fast and scales well in terms of computing resources for resolutions up to 5 kb. © The Author(s) 2018. Published by Oxford University Press on behalf of Nucleic Acids Research.

  8. Prenatal diagnosis of sub-microscopic partial trisomy 10q using chromosomal microarray analysis in a phenotypically abnormal fetus with normal karyotype.

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    Browne, P C; Adam, S; Badr, M; Brooks, C R; Edwards, J; Walker, P; Mohamed, S; Gregg, A R

    2016-05-17

    Partial trisomy of the 10q region was originally reported in 1979 [1]. For 25 years, the diagnosis was made microscopically based on large, visible insertions in the region identified by karyotype analysis. Previous case reports have included both unbalanced translocations and large duplications/insertions in the 10q region [2]. Probands with partial trisomy 10q syndrome often have an abnormal phenotype that may include developmental delay [3-5], craniofacial abnormalities [3, 5], talipes (clubfoot) [2], microcephaly [2-4], or congenital heart disease [2-6]. Prenatal diagnoses by karyotype have been made following ultrasound diagnosis of sacrococcygeal teratoma [7], renal pyelectasis [3, 8-10], and other fetal abnormalities [4]. In this case, we report the first prenatal diagnosis of partial trisomy 10q (10q22.3-10q23.2) with a normal karyotype and an abnormal chromosomal microarray analysis (CMA). This is the smallest copy number variant (CNV) (7.5 Mb) in the 10q22.3-10q23.2 regions yet reported.

  9. Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples.

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    Zhou, Qinghua; Wu, Shen-Yin; Amato, Katherine; DiAdamo, Autumn; Li, Peining

    2016-03-20

    Approximately 30% of pregnancies after implantation end up in spontaneous abortions, and 50% of them are caused by chromosomal abnormalities. However, the spectrum of genomic copy number variants (CNVs) in products of conception (POC) and the underlying gene-dosage-sensitive mechanisms causing spontaneous abortions remain largely unknown. In this study, array comparative genomic hybridization (aCGH) analysis was performed as a salvage procedure for 128 POC culture failure (POC-CF) samples and as a supplemental procedure for 106 POC normal karyotype (POC-NK) samples. Chromosomal abnormalities were detected in 10% of POC-CF and pathogenic CNVs were detected in 3.9% of POC-CF and 5.7% of POC-NK samples. Compiled results from this study and relevant case series through a literature review demonstrated an abnormality detection rate (ADR) of 35% for chromosomal abnormalities in POC-CF samples, 3.7% for pathogenic CNVs in POC-CF samples, and 4.6% for pathogenic CNVs in POC-NK samples. Ingenuity Pathway Analysis (IPA) was performed on the genes from pathogenic CNVs found in POC samples. The denoted primary gene networks suggested that apoptosis and cell proliferation pathways are involved in miscarriage. In summary, a similar spectrum of cytogenomic abnormalities was observed in POC culture success and POC-CF samples. A threshold effect correlating the number of dosage-sensitive genes in a chromosome with the observed frequency of autosomal trisomy is proposed. A rationalized approach using firstly fluorescence in situ hybridization (FISH) testing with probes of chromosomes X/Y/18, 13/21, and 15/16/22 for common aneuploidies and polyploidies and secondly aCGH for other cytogenomic abnormalities is recommended for POC-CF samples. Copyright © 2016 Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Ltd. All rights reserved.

  10. Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype

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    Pratte-Santos, Rodrigo; Ribeiro, Katyanne Heringer; Santos, Thainá Altoe; Cintra, Terezinha Sarquis

    2016-01-01

    ABSTRACT Objective To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. Methods Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. Results Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2....

  11. Interactive Karyotyping Training

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    Ashwin Kotwaliwale

    2013-01-01

    Full Text Available Despite the wide use of newer techniques in genetic diagnostics, there remains a need for technologists to learn human chromosome morphology, identify abnormal metaphases and report clinical abnormalities. Global short age of cytogenetic trainers and a time consuming training process makes Karyotyping training difficult. We have developed a web based interactive Karyotyping training tool, KaryoTutor©, that allows technologists to learn karyotyping in an interactive environment and aids the trainer in the training process. KaryoTutor©provides visual clues for identifying abnormal chromosomes, provides instant test scores and includes a reference library of ideograms,sample chromosome images and reference materials. Trainees are able to recursively work on a case till a satisfactory result is achieved,with KaryoTutor providing interactive inputs.Additionally, trainers can assign cases and monitor trainee progress using audit trail management and other administrative features.

  12. Karyotypic and molecular genetic changes associated with fetal cardiovascular abnormalities: results of a retrospective 4-year ultrasonic diagnosis study.

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    Bao, Bihui; Wang, Yu; Hu, Hua; Yao, Hong; Li, Yuyan; Tang, Shuai; Zheng, Lihong; Xu, Yan; Liang, Zhiqing

    2013-01-01

    To investigate the incidence of aneuploidy in fetuses with congenital heart defects (CHDs) and to further identify submicroscopic changes and global DNA methylation levels as potential biomarkers in complex CHD cases. Fetuses at high risk for birth defects or with obvious sonographic anomalies were recruited at the Prenatal Diagnosis Center and Ultrasonic Diagnosis Center. Elective fetal karyotyping and DNA copy number and promoter methylation analyses were carried out following parental consent. G-banded karyotyping was performed to detect fetal aneuploidy. Copy number variations (CNVs) were detected using the Affymetrix SNP Array 6.0 and validated by real time PCR. Global DNA methylation analyses were conducted using a Roche NimbleGen Human DNA Methylation 3x720K Array, and DNA methylation differences were assayed by a Sequenom MassARRAY EpiTYPER. Conventional karyotyping identified 30 cases with aneuploidy in 179 CHD fetuses. Various CNVs were found in two aneuploid fetuses and in five euploid CHD fetuses. Verified segmental deletion or duplications were not directly associated with cardiovascular malformations except in DAAM1 and GATA6. Verifiable aberrant DNA methylation could not be identified in three complex CHD fetuses. In this study, Trisomy 18, Trisomy 21 and 45,XO were the most common aneuploidies identified in CHD fetuses. In the affected samples, only DAAM1 deletion and GATA6 amplification could be associated with cardiovascular biological processes.

  13. 46,XX Karyotype in a Male with Ambigious Genitalia: A Case Report

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    Mahmut Balkan

    2004-01-01

    Full Text Available 40 days old case who were diagnosed with ambigious genitalia were sentto laboratory of cytogenetics. Mother was 26 years old and have to alivechildren and case were the second child and applied to Child SurgeryDepartment due to continiously vomiting and uneasy conditions. Sexualdevelopment were as male on physical examinations. Cell culture wasapplied for chromosomal analysis. Slides were stained with GiemsaBanding Staining (GTG and 100 cells were totaly counted and karyotypingwere done with 15 metaphase. Chromosome with 46,XX karyotype. Casewere taken under consideration of congenital adrenel hyperplasia afterevalution of karyotype. Case were discussed according to by information ofpresents literatures.

  14. Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association

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    Ros-Pérez Purificación

    2012-06-01

    Full Text Available Abstract Background The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. Case presentation The boy was born at term with clinical and radiological features indicating the diagnosis of achondroplasia or hypochondroplasia combined with the prenatal karyotype of Klinefelter syndrome (47,XXY. Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia G340R mutation. Microsatellite marker analysis showed that the sex chromosome aneuploidy had arisen from a non-disjunction error in paternal meiosis I, with a recombination event in the pseudoautosomal region 1 (PAR1. Conclusion Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the abnormal prenatal sonographic findings. In the present case, a recombination event was observed in the PAR1 region, although recombinational events in paternally derived Klinefelter syndrome cases are much rarer than expected.

  15. Importance of Routine Ultrasonography in Detecting Fetal Karyotype Abnormalities in Low Risk Pregnancies

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    Zerrin Yılmaz

    2012-04-01

    CONCLUSION: We concluded that, although the presence or absence of soft markers can substantially modify the risk of fetal aneuploidy, one or more structural abnormalities inevitably have high risk for aneuplodies as independent factor for low-risk pregnancies.

  16. Concomitance of monosomal karyotype with at least 5 chromosomal abnormalities is associated with dismal treatment outcome of AML patients with complex karyotype - retrospective analysis of Polish Adult Leukemia Group (PALG).

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    Wierzbowska, Agnieszka; Wawrzyniak, Ewa; Siemieniuk-Rys, Monika; Kotkowska, Aleksandra; Pluta, Agnieszka; Golos, Aleksandra; Robak, Tadeusz; Szarawarska, Marta; Jaskowiec, Anna; Duszenko, Ewa; Rybka, Justyna; Holojda, Jadwiga; Grosicki, Sebastian; Pienkowska-Grela, Barbara; Woroniecka, Renata; Ejduk, Anna; Watek, Marzena; Wach, Malgorzata; Mucha, Barbara; Skonieczka, Katarzyna; Czyzewska, Maria; Jachalska, Anna; Klonowska, Agnieszka; Iliszko, Mariola; Knopinska-Posluszny, Wanda; Jarmuz-Szymczak, Malgorzata; Przybylowicz-Chalecka, Anna; Gil, Lidia; Kopacz, Agnieszka; Holowiecki, Jerzy; Haus, Olga

    2017-04-01

    Monosomal karyotype (MK) and complex karyotype (CK) are poor prognostic factors in acute myeloid leukemia (AML). A comprehensive analysis of cytogenetic and clinical factors influencing an outcome of AML-CK +  was performed. The impact of cladribine containing induction on treatment results was also evaluated. We analyzed 125 patients with AML-CK +  treated within PALG protocols. MK was found in 75 (60%) individuals. The overall complete remission (CR) rate of 66 intensively treated patients was 62% vs. 28% in CK +  MK - and CK +  MK +  group (p = .01). No difference in CR rate was observed between DA and DAC arms. The overall survival (OS) in intensively treated patients was negatively influenced by MK, karyotype complexity (≥5 abnormalities), and WBC >20 G/L in multivariate analysis. The addition of cladribine to DA regimen improved OS only in MK - but not in MK +  group. In conclusion, concomitance of MK with ≥5 chromosomal abnormalities is associated with dismal treatment outcome in AMK-CK + .

  17. All males do not have 46 xy karyotype: A rare case report

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    Ritesh Kumar Agrawala

    2013-01-01

    Full Text Available The sex of an embryo is determined by genetic sex due to presence or absence of Y chromosome, but it may not be true in all. We hereby report an interesting case of a phenotypic male carrying a female karyotype (46 XX. A 26-year-old male presented with bilateral gynecomastia, poor development of secondary sexual characters and azospermia. On evaluation patient had hypergonadotrophic hypogonadism and chromosomal analysis revealed 46 XX karyotype. The ultrasound revealed no Mullerian structures. Fluorescent in situ hybridization (FISH showed sex determining region of Y chromosome (SRY gene locus on X chromosome.

  18. Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association.

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    Ros-Pérez, Purificación; Regidor, Francisco J; Colino, Esmeralda; Martínez-Payo, Cristina; Barroso, Eva; Heath, Karen E

    2012-06-29

    The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. The boy was born at term with clinical and radiological features indicating the diagnosis of achondroplasia or hypochondroplasia combined with the prenatal karyotype of Klinefelter syndrome (47,XXY). Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia G340R mutation. Microsatellite marker analysis showed that the sex chromosome aneuploidy had arisen from a non-disjunction error in paternal meiosis I, with a recombination event in the pseudoautosomal region 1 (PAR1). Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the abnormal prenatal sonographic findings. In the present case, a recombination event was observed in the PAR1 region, although recombinational events in paternally derived Klinefelter syndrome cases are much rarer than expected.

  19. Fetal karyotype: can we always trust its result?

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    Carolina Leite Drummond

    2008-09-01

    Full Text Available We retrospectively investigated six cases of discrepancy between prenatal fetal karyotype and postnatal findings. In five cases, the chromosomal abnormalities initially found by CVS or amniocentesis were not confirmed by later analyses and postnatal examination. In one case, the fetal karyotype found to be normal by CVS had to be checked due to sonographic features and clinical anomalies found after birth. In most cases, the normal development on sonographic examination raised the doubt about the abnormal fetal karyotype. Discrepant findings between fetal karyotype results and sonographic findings require great caution in their interpretation and counseling of parents. Placental confined mosaicism seems to be the most frequent cause of such discrepant results. The interpretation of fetal karyotype results should always be correlated with sonographic and clinical findings.

  20. Molecular karyotyping of single sperm with nuclear vacuoles identifies more chromosomal abnormalities in patients with testiculopathy than fertile controls: implications for ICSI.

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    Garolla, Andrea; Sartini, Barbara; Cosci, Ilaria; Pizzol, Damiano; Ghezzi, Marco; Bertoldo, Alessandro; Menegazzo, Massimo; Speltra, Elena; Ferlin, Alberto; Foresta, Carlo

    2015-11-01

    Is there a difference between molecular karyotype of single sperm selected by high-magnification microscopy from infertile patients with testicular damage and from proven fertile controls? The molecular karyotype of single sperm from patients with testiculopathy had a significantly higher percentage of chromosomal alterations than fertile controls. Infertile patients with testicular impairment have many sperm with aneuploidies and/or increased structural chromosome alterations. In these patients, sperm use by ICSI has poor outcome and raises concerns about the possible impact on pregnancy loss and transmission of genes abnormalities in offspring. High-magnification microscopy has been recently introduced to select morphologically better sperm aimed at improving ICSI outcome. However, there are no studies evaluating the molecular karyotype of sperm selected by this method. Three consecutive infertile patients with oligozoospermia due to testicular damage and three age-matched proven fertile men attending a tertiary care center, were enrolled in the study from September to November 2014. Inclusion criteria of patients were age ≥30 ≤35 years, at least 2 years of infertility, oligozoospermia (sperm count below 10 million), reduced testicular volumes high FSH plasma levels and absence of altered karyotype, Y chromosome microdeletions, cystic fibrosis transmembrane conductance regulator gene mutations, sperm infections, cigarette smoking, varicocele, obesity. Participants were evaluated for sperm parameters, sex hormones and testicular color-doppler ultrasound. From each semen sample, 20 sperm with large vacuoles (LVs), 20 with small vacuoles (SVs) and 20 with no vacuoles (NVs) were retrieved individually by a micromanipulator system. Each cell was further analyzed by whole genome amplification and array comparative genomic hybridization (aCGH). The aCGH allowed us to detect chromosomal aneuploidies, unbalanced translocations and complex abnormalities. Sperm selected

  1. Partial epilepsy and 47,XXX karyotype: report of four cases.

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    Roubertie, Agathe; Humbertclaude, Véronique; Leydet, Julie; Lefort, Geneviève; Echenne, Bernard

    2006-07-01

    Epilepsy is a common finding in chromosomal imbalances, but only a few chromosome abnormalities have a characteristic electro-clinical pattern. Trisomy X is one of the most common sex chromosome abnormalities in females, and is associated with considerable phenotypic variability. This report describes four 47,XXX females with mental deficiency and epilepsy. Although a specific electro-clinical pattern could not be defined, the epileptic phenotypes of these patients share many features; we suggest that the association 47,XXX/epilepsy/mental retardation may not be coincidental. This report also enlarges the clinical spectrum of the 47,XXX phenotype. Moreover, these observations highlight the critical role of chromosome X in epilepsy and mental retardation.

  2. Reproductive outcome and fetal karyotype of couples with recurrent miscarriages.

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    Zhang, S; Gao, L; Liu, Y; Tan, J; Wang, Y; Zhang, R; Liu, Y; Chen, H; Zhang, J

    2014-01-01

    The purpose of this study was to evaluate the relationship between fetal karyotype and parental chromosomal abnormalities, and assess the long-term reproductive outcomes in couples with recurrent miscarriages (RM). The reproductive outcomes of 34 couples with abnormal karyotypes and RM were investigated. Ultrasound examinations were performed during pregnancy, fetal karyotypes were determined following miscarriages, and successful pregnancy outcomes were recorded. Of the 34 couples, 20 individuals presented with chromosomal abnormalities, specifically in nine females and 11 males (45% vs 55%, chi2 = 0.2833,p > 0.05). Fifteen couples (44.1%) possessed karyotype polymorphisms, of which the most common variant was a long Y chromosome in males. The reproductive outcomes of subsequent pregnancies consisted of 25 live births of phenotypically normal infants (73.5%), one infant with multiple malformations (2.9%), and eight RM (23.6%). With regards to karyotypes, 69.2% (9/13) of couples had inversions and 73.3% (11/15) had karyotype polymorphisms that resulted in live births of phenotypically normal babies. Fetal karyotyping was performed in a total of 29 cases. Normal karyotypes were present in 48.3% (14/29) of cases, whereas 41.4% (12/29) had abnormalities (either numerical or structural), and 10.3% (3/29) has a karyotype polymorphism. There is a positive correlation between chromosomal abnormalities and spontaneous miscarriages. A complete evaluation and special treatment should be provided to couples with a history of recurrent miscarriage(s) during a subsequent pregnancy, particularly when one partner is a carrier of chromosome abnormalities (i.e., inversions of chromosome 9 and long Y chromosome in males). Prenatal diagnosis is necessary in carrier couples suffering from more than two miscarriages.

  3. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality

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    Gioconda Manassero-Morales

    2016-01-01

    Full Text Available Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X,+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.

  4. The Karyotype of Microsternarchus aff. bilineatus: A First Case of Y Chromosome Degeneration in Gymnotiformes.

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    Batista, Jéssica Almeida; Cardoso, Adauto Lima; Milhomem-Paixão, Susana Suely Rodrigues; Ready, Jonathan Stuart; Pieczarka, Julio Cesar; Nagamachi, Cleusa Yoshiko

    2017-06-01

    Various species and lineages that until recently were identified as Microsternarchus bilineatus (Hypopomidae, Gymnotiformes) have a widespread distribution in the Amazon and Orinoco River basins and across the Guiana shield. Recent molecular studies show five distinct lineages for Microsternarchus from different localities. These results suggest that this previously monotypic genus actually consists of more than one species. Here, we describe the karyotype of M. aff. bilineatus from the Cururutuia River (Bragança, Pará, Brazil). The diploid number of 48 chromosomes (14 meta-submetacentric/34 subtelo-acrocentric) is found for males and females, with an XX/XY sex chromosome system. The nucleolar organizer region is found in the short arm of pair 9. Constitutive heterochromatin occurs in the pericentromeric region of all chromosomes, in the distal region of 3p, 5p, 7p, 8q, 9q, 16q, and Xq, in the interstitial region in 2p, 10q, 11q, and 12q and all along 4p, and in a large block of the Y chromosome. These results indicate extensive karyotype divergence between this population and samples from Igarapé Tarumã Grande (Negro River, Amazonas, Brazil) studied by other researchers. Moreover, despite the diversity of sex chromosome systems found in Gymnotiformes, the XX/XY sex chromosome system of M. aff. bilineatus is the first case of Y chromosome degeneration in this order. The present data are valuable to help understand karyotype evolution in Hypopomidae.

  5. [Role of Dynamic Monitoring Chromosome Karyotypes for Evaluation of Chemotherapy Efficacy in Patients with Acute Leukemia].

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    Liu, Yan-Chun; Li, Wei; Wang, Huan; Chen, Xi; Li, Jun; Chai, Tie

    2015-06-01

    To explore the role of dynamic monitoring the karyotype changes for evaluation of chemotherapy efficacy in patients with acute leukemia. A total of 80 patients with acute leukemia were collected and according to FAB classification standards they were divided into 65 cases of acute myeloid leukemia (AML) and 15 cases of acute lymphoblastic leukemia (ALL); R banding technique was used taken to detect their chromosome and to analyze the relationship between chromosome and efficacy of chemotherapy. Out of 65 cases of AML, 31 cases showed abnormal karyotypes and their aberration rate was 47.7%; among 31 cases of AML with chromosome abnormalities, the t (15; 17) was found in 9 cases and they accounted for 29%; t (8; 21) was found in 7 cases and they accounted for 22.6%; other karyotype and complex karyotypes were found in 15 cases and they accounted for 48.4%; the remission rate of t (15; 17) group was 88.9%, remission rate of t (8; 21) group was 71.4%, remission rate of other karyotype group was 66.7%. The comparison of between different groups showed that remission rate of t (15; 17) group was significantly higher than that in T (8; 21) group, other karyotype group and normal karyotype group (χ2=9.625,14.267,7.768, P0.05). In 15 cases of ALL, 8 cases with normal karyotype accounted for 53.3%, 7 cases with abnormal karyotype accounted for 46.7% of ALL; as compared with AML, no significant difference was shown (χ2=0.020, P>0.05); the remission rates of patients with normal karyotype and abnormal karyotype were 87.5% and 42.9% respectively, the difference between the two groups had statistical significance (χ2=43.834, Pleukemia.

  6. The Turner syndrome in patient with 45X/47XXX mosaic karyotype--case report.

    Science.gov (United States)

    Maciejewska-Jeske, Marzena; Czyzyk, Adam; Meczekalski, Blazej

    2015-07-01

    Turner syndrome (TS) is a gonadal dysgenesis related to partial or total lack of one of the X chromosomes. It this report we describe a young patient presenting some somatic features of TS, who underwent spontaneous puberty and was eumenoorheic up to the age of 23. Using fluorescent in situ hybridization (FISH) mosaic karyotype (45X[131]/47XXX[9]) of TS and triple X syndrome was found. She presented uncommon for TS somatic hemihypotrophy and underwent growth hormone and surgical therapy. The patient was diagnosed with premature ovarian failure when she was 23, with absent follicular reserve. Clinical features of this case and a few published cases will be reviewed briefly.

  7. Clonal karyotypic abnormalities in colorectal adenomas: clues to the early genetic events in the adenoma-carcinoma sequence

    DEFF Research Database (Denmark)

    Bomme, L; Bardi, G; Pandis, N

    1994-01-01

    with a normal karyotype. All adenomas with a tubulovillous or villous architecture had structural rearrangements. Our findings confirm that a subset of colorectal adenomas exists that have only numerical chromosome aberrations. They also support our previous conclusion that loss of material from distal 1p...

  8. [Comparison of chromosome karyotype between myelodysplastic syndrome and acute leukemia patients confirmed at the same period].

    Science.gov (United States)

    Jiang, Ming; Wen, Bing-Zhao; Li, Ling; Chen, Shuang; Cheng, Hong; Hao, Jian-Ping; Chen, Rong; Wang, Lei; Zhao, Fang

    2014-04-01

    This study was purposed to compare and analyze the relationship between the abnormality of chromosome karyotypes and diagnosis, prognosis of MDS and AML patients, as well as to explore the characteristics of chromosome prognostic stratification in MDS and AML patients of different ages. The cytogenetic karyotype analysis was performed in 134 cases of MDS and 123 cases of AML by using bone marrow short-term culture and R-banding technique. The results indicated that the detected rates of chromosome abnormal karyotypes in MDS and AML patients were 41% and 61% respectively. The abnormal karyotype analysis of MDS and AML group showed that the abnormal karyotype in MDS group displayed number abnormality as the dominate (mainly the +8), while the abnormal karyotype in AML group displayed structure abnormality as the dominant [mainly, t(15;17) and t(8;21)]. The detected abnormal karyotype are mainly for the +8 which has ambiguous correlation with FAB subtype; the detection rates of complex karyotype abnormalities, favourable prognosis karyotype as well as poor prognosis karyotype in the MDS group obviously higher than that of AML group. Among patients with MDS transformed into AML, 12 cases had chromosome abnormal karyotype. There were 3 cases of chromosome abnormal karyotype in AML group which were transformed by MDS. The analysis of age stratification between two groups showed that the detected rate of abnormal karyotype was enhanced with the increase of age in MDS group, and detected rate in ≥ 60 years old group was obviously higher than that in patients with ≤ 30 age group.The detected rate of complex karyotype abnormalities in three age groups of MDS did not show statistical difference; the detected rate of abnormal karyotype in AML group decreased with the increase of age, the detected rate in ≤ 30 years old group was obviously higher than that in ≥ 60 age group,while the detection rate of complex karyotype abnormalities showed that the detected rate in

  9. A case of premature ovarian failure (POF) in a 31-year-old woman with a 47,XXX karyotype.

    Science.gov (United States)

    Skałba, Piotr; Cygal, Anna; Gierzyńska, Zuzanna

    2010-01-01

    A case of POF in a 31-year-old woman with karyotype 47,XXX. The aim of the study was to discuss a case of POF in a 31-year-old patient with polysomy 47,XXX. The described karyotype is not usually associated with this characteristic physical phenotype. In some rare cases, menstrual disorders, sterility, secondary amenorrhoea, premature menopause, and low intelligence are found. Our observations revealed the necessity for cytogenetic examination in all women at reproductive age with symptoms of premature ovarian failure. According to the data found in literature, patients with POF and karyotype disorders belong to the risk group of premature death, mostly for cardiological reasons. Raising patient awareness about the risk may have a positive effect on quality of life and regularity of check-ups.

  10. Clonal karyotypic abnormalities in colorectal adenomas: clues to the early genetic events in the adenoma-carcinoma sequence

    DEFF Research Database (Denmark)

    Bomme, L; Bardi, G; Pandis, N

    1994-01-01

    Cytogenetic analysis of short-term cultures from colorectal adenomas revealed acquired clonal chromosome aberrations in 14 of 17 tumors. In 4 adenomas, only numerical changes were found, whereas 10 had structural rearrangements. Trisomy 7 was found as the sole change in one of the tumors and toge......Cytogenetic analysis of short-term cultures from colorectal adenomas revealed acquired clonal chromosome aberrations in 14 of 17 tumors. In 4 adenomas, only numerical changes were found, whereas 10 had structural rearrangements. Trisomy 7 was found as the sole change in one of the tumors...... in changes in more than 2 cases were chromosomes 8, 13, and 17. These rearrangements typically led to gain of 8q and 13q and loss of 17p. The adenomas with structural abnormalities were generally larger and had a higher degree of dysplasia than did the adenomas with numerical changes only or those...

  11. Dermatoglyphics and karyotype analysis in primary amenorrhoea.

    Science.gov (United States)

    Talhar, Shweta S; Sontakke, Bharat R; Waghmare, Jwalant E; Tarnekar, Aditya M; Shende, Moreshwar R; Pal, Asoke K

    2014-12-01

    Dermatoglyphics is the scientific study of the skin ridge patterns on the fingers, toes, palms of the hands and soles of feet. Dermatoglyphics is in use as a supportive diagnostic tool in genetic or chromosomal disorders as well as in clinical conditions with genetic etiologies. Primary amenorrhoea and Dermatoglyphics, both have the suspected multifactorial (genetic and environmental) aetiologies. In the present study the finger dermatoglyphic patterns were studied in primary amenorrhoea cases and age matched fertile control females and also attention was given to find out whether a specific dermatoglyphic trait exists in primary amenorrhoea cases and whether it was statistically significant. To study the role of dermatoglyphics in primary amenorrhoea, a study was conducted on 30 subjects with primary amenorrhoea (as cases) and compared it with equal number of age matched fertile females (as controls). We studied fingertip patterns in all the subjects enrolled. Simultaneously we have assessed the Karyotype of primary amenorrhoea cases. Two subjects in experimental group have shown abnormal Karyotypes. The most significant finding in present study was increased total finger ridge count (TFRC) in primary amenorrhoea cases which was statistically significant. We also found higher frequency of loops and arches in primary amenorrhoea with abnormal karyotypes. This type of study may be quite useful as a supportive investigation, in stating the predisposition of an individual to primary amenorrhoea and referral of an individual for karyotyping.

  12. 46 XX karyotype during male fertility evaluation; case series and literature review.

    Science.gov (United States)

    Majzoub, Ahmad; Arafa, Mohamed; Starks, Christopher; Elbardisi, Haitham; Al Said, Sami; Sabanegh, Edmund

    2017-01-01

    Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man's fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients' clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using "46 XX man" as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients' mean age ± s.d. was 34 ± 10 years and their mean height ± s.d. was 166 ± 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% (4/20), 25.8% (8/31), and 42% (13/31) of the patients, respectively. The SRY gene was detected in 36 (83.7%) and was absent in the remaining seven (16.3%) patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption.

  13. 46 XX karyotype during male fertility evaluation; case series and literature review

    Directory of Open Access Journals (Sweden)

    Ahmad Majzoub

    2017-01-01

    Full Text Available Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man′s fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients′ clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using "46 XX man" as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients′ mean age ± s.d. was 34 ± 10 years and their mean height ± s.d. was 166 ± 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% (4/20, 25.8% (8/31, and 42% (13/31 of the patients, respectively. The SRY gene was detected in 36 (83.7% and was absent in the remaining seven (16.3% patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption.

  14. [Comparative study of prenatal diagnosis with single nucleotide polymorphism array and karyotype analysis].

    Science.gov (United States)

    Chang, Ling; Zhao, Nan; Wei, Yuan; Zhong, Su; Liu, Ping; Qiao, Jie

    2014-10-18

    To compare the roles of single nucleotide polymorphism array (SNP array) and karyotype analysis in high-risk pregnant women prenatal diagnosis. From July 2012 to December 2013, a total of 141 pregnant women with high-risk in prenatal diagnosis were selected as the object of study in Department of Obstetrics and Gynecology, Peking University Third Hospital, 78 cases of umbilical cord puncture and 63 of amnion cavity puncture , both taking SNP array detection and karyotype analysis. The abnormality karyotype rate was 6.4%, the abnormal rate of SNP array result was 11.3%, and the abnormal rate of the combined two methods for detecting was 12.1%. There were significant differences between the SNP array and karyotype analysis (P=0.039). There were obvious differences between the two techniques. It is an effective way to determine genetic disease by integrating SNP array and karyotype analysis in prenatal diagnosis.

  15. Mixed Phenotype Acute Leukemia with Two Immunophenotypically Distinct B and T Blasts Populations, Double Chromosome and Complex Karyotype: Report of an Unusual Case

    Directory of Open Access Journals (Sweden)

    Samah A. Kohla

    2015-01-01

    Full Text Available Mixed phenotype acute leukemia (MPAL is considered as a rare type of leukemia with an incidence of less than 4% of all acute leukemia based on the most recent 2008 WHO classification. Common subtypes are the B/myeloid and T/myeloid; B/T and trilineage MPAL being extremely rare. We present a case of a male in his 20s, whose peripheral blood smears showed 34% blast cells and bone marrow with 70% blasts. Immunophenotyping by multiparametric flow cytometry showed two populations of blasts, the major one with B-lineage and the minor one with T-lineage. Conventional karyotyping revealed complex karyotype with the presence of double Philadelphia chromosome ( Ph + . BCR/ABL1 rearrangement was confirmed by fluorescent in situ hybridization (FISH analysis. The BCR/ABL1 ES probe on interphase cells indicated pl90 minor m-BCR/ABL fusion in 46% and a second abnormal clone with double Ph + in 16% of the cells analyzed confirmed by reverse transcription-PCR (RT-PCR. The case was diagnosed as MPAL with double Philadelphia chromosome Ph + . The patient was treated with dasatinib, four cycle hyper CVAD/methotrexate cytarabin protocol, and allogeneic transplant. He is still alive in complete hematological, cytogenetic, and molecular remission. Mixed phenotype B/T acute leukemia is an extremely rare disease, particularly those with double Philadelphia chromosomes and clinically presents challenges in diagnosis and treatment.

  16. Retrospective karyotype study in mentally retarded patients.

    Science.gov (United States)

    Teixeira, Wellcy Gonçalves; Marques, Fabiana Kalina; Freire, Maíra Cristina Menezes

    2016-01-01

    To describe the chromosomal alterations in patients with mental retardation (MR) using G-banding karyotype analysis. A retrospective study of the results G-banding karyotype analysis of 369 patients investigated for MR was performed. Based on the structural rearrangements found, the authors searched all chromosomal regions related with breakpoints, and these were compared with the literature on MR and databases. 338 (91.6%) normal cases, and 31 (8.4%) with some type of chromosomal abnormality were identified. Among the altered cases, 21 patients (67.8%) were identified with structural chromosomal alterations, nine (29%) with numerical alterations, and one (3.2%) with numerical and structural alterations. Structural chromosomal abnormalities were observed more frequently in this study. G-banding karyotyping contributes to the investigation of the causes of MR, showing that this technique can be useful for initial screening of patients. However, higher resolution techniques such as array based comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MPLA) can detect submicroscopic alterations commonly associated with MR.

  17. OC01.03: Atypical karyotypic abnormalities not identified through NIPT: the value of identifying fetal anomalies at the first or second trimester scan?

    DEFF Research Database (Denmark)

    Petersen, Olav Bjørn; Ekelund, Charlotte; Hyett, Jon

    2015-01-01

    diagnosed in the first and second trimester, and prenatal and postnatal karyotypes were collected from the Danish Fetal Medicine database. Karyotypes were classified according to whether the chromosome anomaly would have been detected by NIPT, and whether they were likely to affect phenotype Results: c......, not detectable by NIPT, would not be diagnosed by first or second trimester ultrasound alone. Interestingly, 38% of these had an increased risk at cFTS and would therefore have been detected in our current screening program...

  18. [Application of chromosome microarray analysis for patients with skeletal anomalies and a normal karyotype].

    Science.gov (United States)

    Guo, Qiaoli; Fu, Fang; Li, Ru; Zhang, Yongling; Yang, Xin; Han, Jin; Pan, Min; Zhen, Li; Liao, Can

    2016-06-01

    To analyze patients with skeletal anomalies (SA) but a normal karyotype using chromosome microarray analysis (CMA). From June 2012 to May 2015, 43 children found to have skeletal anomalies with or without other abnormalities were subjected to karyotyping analysis. For those with a normal karyotype, DNA was extracted and hybridized with Affymetrix CytoScan 750 kb arrays following the manufacturer's protocol. The results were analyzed with CHAS v2.0 software. Two patients (4.65%) were detected with an abnormal karyotype. The remaining 41 patients with a normal karyotype were classified into 3 groups: isolated SA (n=17), SA with mental retardation (n=6), and SA with other structural anomalies (n=18). Clinically significant copy number variations (CNVs) were found in 21.95% (9/41) of the cases, which included 17.65% (3/17) with isolated SA, 33.33% (2/6) with SA and mental retardation, and 22.22% (4/18) of SA with other structural deformities. Whole-genome CMA can detect clinically significant CNVs which may not be found by conventional karyotyping analysis and increase the detection rate by approximately 21.95%. It may be recommended for patients with SA but a normal karyotype.

  19. Clinical utility of skin karyotype

    Directory of Open Access Journals (Sweden)

    Luiza E. Dorfman

    2015-08-01

    Full Text Available ABSTRACTWe report the case of a patient with Patau syndrome, diagnosed by skin karyotype, emphasizing the applications and importance of this test. The pregnancy morphology ultrasound showed face defects and of central nervous system and heart chambers asymmetry. In the postnatal evaluation it was identified microcephaly, single central nostril, and other malformations. We performed skin karyotype that resulted in full trisomy 13. Our report highlights the possibility of performing karyotype examination in cases when it is no longer possible to obtain a blood sample, thus providing the correct diagnosis and genetic counseling for the family.

  20. Molecular characterization of KMT2A fusion partner genes in 13 cases of pediatric leukemia with complex or cryptic karyotypes.

    Science.gov (United States)

    Ney Garcia, Daniela R; de Souza, Mariana T; de Figueiredo, Amanda F; Othman, Moneeb A K; Rittscher, Katharina; Abdelhay, Eliana; Capela de Matos, Roberto R; Meyer, Claus; Marschalek, Rolf; Land, Marcelo G P; Liehr, Thomas; Ribeiro, Raul C; Silva, Maria Luiza Macedo

    2017-12-01

    In pediatric acute leukemias, reciprocal chromosomal translocations frequently cause gene fusions involving the lysine (K)-specific methyltransferase 2A gene (KMT2A, also known as MLL). Specific KMT2A fusion partners are associated with the disease phenotype (lymphoblastic vs. myeloid), and the type of KMT2A rearrangement also has prognostic implications. However, the KMT2A partner gene cannot always be identified by banding karyotyping. We sought to identify such partner genes in 13 cases of childhood leukemia with uninformative karyotypes by combining molecular techniques, including multicolor banding FISH, reverse-transcriptase PCR, and long-distance inverse PCR. Of the KMT2A fusion partner genes, MLLT3 was present in five patients, all with acute lymphoblastic leukemia, MLLT1 in two patients, and MLLT10, MLLT4, MLLT11, and AFF1 in one patient each. Reciprocal reading by long-distance inverse PCR also disclosed KMT2A fusions with PITPNA in one patient, with LOC100132273 in another patient, and with DNA sequences not compatible with any gene in three patients. The most common KMT2A breakpoint region was intron/exon 9 (3/8 patients), followed by intron/exon 11 and 10. Finally, multicolor banding revealed breakpoints in other chromosomes whose biological and prognostic implications remain to be determined. We conclude that the combination of molecular techniques used in this study can efficiently identify KMT2A fusion partners in complex pediatric acute leukemia karyotypes. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  1. NanoKaryotyping

    DEFF Research Database (Denmark)

    Kwasny, Dorota

    Chromosome abnormalities, such as translocations may cause various genetic disorders and are also associated with heametological malignancies. Translocation is a rearrangement between two chromosome arms that results in two derivative chromosomes. The current detection methods such as karyotyping...... detection an electrical label-free approach has been investigated using silicon nanowires BioFETs, metallic and conductive polymer electrodes. We present here our findings regarding the DNA hybridisation sensing using these sensors. They showed an improved sensitivity and are all label-free, which makes...

  2. Ring chromosome in myeloid neoplasms is associated with complex karyotype and disease progression.

    Science.gov (United States)

    Rosenbaum, Matthew W; Pozdnyakova, Olga; Geyer, Julia T; Dal Cin, Paola; Hasserjian, Robert P

    2017-10-01

    Ring chromosome (RC) is a poorly understood genetic anomaly seen in myeloid neoplasms. This study aims to shed light on the clinical significance of this finding. We identified 96 cases of myeloid neoplasms with RC from 3 academic hospitals. Clinicopathologic features and overall (OS) and leukemia-free survival were reviewed and compared to cases of myeloid neoplasms lacking RC. We identified 59 acute myeloid leukemias (AML-RC) and 37 myelodysplastic syndromes (MDS-RC) with RC identified on routine karyotyping. Seventy-five percent of AML-RC and 97% of MDS-RC had complex (>3 independent cytogenetic abnormalities) karyotypes. The median OS of AML-RC with complex karyotype was significantly shorter than AML-RC patients with a non-complex (≤3 independent cytogenetic abnormalities) karyotype (P=.001), but similar to AML patients with complex karyotype lacking RC (P=not significant). Compared to complex-karyotype MDS lacking RC, MDS-RC patients had shorter leukemia-free survival (P=.016) and a trend for shorter OS (P=.10). RCs were sometimes lost after therapy or appeared during disease relapse, suggesting that they may be associated with genetic instability. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

    Directory of Open Access Journals (Sweden)

    Kooper Angelique JA

    2012-01-01

    Full Text Available Abstract As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedure. These samples included 454 (90.8% chorionic villus (CV and 46 (9.2% amniocenteses specimens. For CV samples karyotyping was based on analyses of both short-term culture (STC and long-term culture (LTC cells. Overall, 19 (3.8% abnormal karyotypes were denoted: four with a common aneuploidy (trisomy 21, 18 and 13, two with a sex chromosomal aneuploidy (Klinefelter syndrome, one with a sex chromosome mosaicism and twelve with various autosome mosaicisms. In four cases a second invasive test was performed because of an abnormal finding in the STC. Taken together, we conclude that STC and LTC karyotyping has resulted in a diagnostic yield of 19 (3.8% abnormal cases, including 12 cases (2.4% with an uncertain significance. From a diagnostic point of view, it is desirable to limit uncertain test results as secondary test findings. Therefore, we recommend a more targeted assay, such as e.g. QF-PCR, as a replacement of the STC and to provide parents the autonomy to choose between karyotyping and QF-PCR.

  4. Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

    NARCIS (Netherlands)

    Croonen, Ellen A.; Nillesen, Willy M.; Stuurman, Kyra E.; Oudesluijs, Gretel; van de Laar, Ingrid M. B. M.; Martens, Liesbeth; Ockeloen, Charlotte; Mathijssen, Inge B.; Schepens, Marga; Ruiterkamp-Versteeg, Martina; Scheffer, Hans; Faas, Brigitte H. W.; van der Burgt, Ineke; Yntema, Helger G.

    2013-01-01

    In recent studies on prenatal testing for Noonan syndrome (NS) in fetuses with an increased nuchal translucency (NT) and a normal karyotype, mutations have been reported in 9-16% of cases. In this study, DNA of 75 fetuses with a normal karyotype and abnormal ultrasound findings was tested in a

  5. A Case Study of the Identity Development of an Adolescent Male with Emotional Disturbance and 48, XYYY Karyotype in an Institutional Setting

    Science.gov (United States)

    Rausch, John L.

    2012-01-01

    The goal of this study was to utilize a phenomenological case study design to investigate the individual and social identity development of an adolescent male who had been placed in a high-security group home setting. The participant had been identified with emotional disturbance (ED), and 48, XYYY karyotype. The participant described his social…

  6. Monosomal karyotype predicts inferior survival independently of a complex karyotype in patients with myelodysplastic syndromes.

    Science.gov (United States)

    McQuilten, Zoe K; Sundararajan, Vijaya; Andrianopoulos, Nick; Curtis, David J; Wood, Erica M; Campbell, Lynda J; Wall, Meaghan

    2015-09-01

    Conflicting data exist about the impact of a monosomal karyotype (MK) on overall survival (OS) for patients with myelodysplastic syndromes (MDSs) and particularly for those with a complex karyotype (CK). This study was aimed at determining whether an MK is associated with OS independently of the number of cytogenetic abnormalities (CAs) in a population-based MDS cohort. Cancer registry data on incident MDS cases were linked with cytogenetic data and hospital administrative data from 2000 to 2010 for the Australian state of Victoria. Between 2000 and 2010, 1404 incident MDS cases with cytogenetic results were identified. A CK, defined as 3 or more abnormalities, was present in 126 (9%). A very complex karyotype (vCK), defined as 5 or more abnormalities, was present in 95 (7%). An MK was associated with worse OS in the whole cohort (median 6 vs 39 months, P < 0.001) including those with a coexisting CK (6 vs 17 months, P < 0.001) or vCK (6 vs 9 months, P = 0.02). After adjustments for the number of CAs, an MK remained independently associated with OS, although its effect size decreased with increasing cytogenetic complexity (hazard ratio for an MK, 4.81; 95% confidence interval, 3.08-7.52; hazard ratio for the number of CAs, 1.22; 95% confidence interval, 1.15-1.30; and hazard ratio for the interaction between an MK and CAs, 0.83; 95% confidence interval, 0.77-0.89). These results support the clinical utility of an MK as an independent predictor of adverse outcomes for MDS patients, even among CK and vCK groups, although its prognostic effect decreases with increasing cytogenetic complexity. © 2015 American Cancer Society.

  7. Molecular studies reveal a MLL-MLLT3 gene fusion displaced in a case of childhood acute lymphoblastic leukemia with complex karyotype.

    Science.gov (United States)

    Ney Garcia, Daniela Ribeiro; Liehr, Thomas; Emerenciano, Mariana; Meyer, Claus; Marschalek, Rolf; Pombo-de-Oliveira, Maria do Socorro; Ribeiro, Raul C; Poirot Land, Marcelo Gerardin; Macedo Silva, Maria Luiza

    2015-04-01

    Rearrangement of the mixed lineage-leukemia gene (MLL-r) is common in hematological diseases and is generally associated with poor prognosis. The mixed-lineage leukemia gene translocated to, 3 (MLLT3) gene (9p22) is a frequent MLL-r partner (∼18% of leukemias with MLL rearrangement) and is characterized by the translocation t(9;11) (p22;q23), forming an MLL-MLLT3 gene fusion. MLL-r are usually simple reciprocal translocations between two different chromosomes, although karyotypes with complex MLL-r have been observed. We present a rare case of a child with acute lymphoblastic leukemia with a complex karyotype in which the classical t(9;11) (p22;q23) was cryptically relocated into a third chromosome in a balanced three-way translocation. At the genome level, however, the MLL-MLLT3 three-way translocation still displayed both reciprocal fusion transcripts. This argues in favor for a model where a simple two-way t(9;11) (p22;q23) was likely the first step that then evolved in to a more complex karyotype. Multicolor banding techniques can be used to greatly refine complex karyotypes and its chromosomal breakpoints. Also in the presence of putative new rearrangements, Long distance inverse-PCR is an important tool to identify which gene fusion is involved. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Increased nuchal translucency with normal karyotype: a follow-up study of 100 cases supplemented with CGH and MLPA analyses

    DEFF Research Database (Denmark)

    Schou, K V; Kirchhoff, M; Nygaard, U

    2009-01-01

    karyotype on conventional karyotyping. METHODS: Chorionic villus samples from 100 fetuses with NT > or = 99(th) percentile and normal G-banding analysis and MLPA for detection of aneuploidies for chromosomes 13, 18, 21, X and Y were included. Examinations were supplemented by HR-CGH and MLPA for syndromes...... disease, which supports the current approach of repeated ultrasound examinations in these high-risk pregnancies....

  9. Solar retinopathy without abnormal exposure: case report

    Directory of Open Access Journals (Sweden)

    Ricardo Alexandre Stock

    2013-04-01

    Full Text Available Solar retinopathy is photochemical damage to the retina, usually caused, by direct or indirect solar observation resulting from the use of hallucinogenic drugs, mental disorders or during eclipses. There may be a loss of visual acuity. We report the case of a 38-year-old patient who presented with a clinical diagnosis of solar retinopathy in the left eye, no prior history of sun exposure, normal visual acuity and complaints of metamorphopsia. Optical coherence tomography showed a rupture of the retinal pigment epithelium, confirming class II solar retinopathy. Visual acuity tends to normalize after 3 to 9 months, but not always. Thus, there is a real need to educate people about using eye protection during sun exposure especially given that some people may be highly susceptible to retinal damage, which was presumably the case for this patient. Finally, we note the importance of optical coherence tomography in diagnosing solar retinopathy.

  10. Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult

    Energy Technology Data Exchange (ETDEWEB)

    Papenhausen, P.R.; Mueller, O.T.; Sutcliffe, M.; Diamond, T.M.; Kousseff, B.G. [Univ. of South Florida College of Medicine, Tampa, FL (United States); Johnson, V.P. [Univ. of South Dakota, Sioux Falls, SD (United States)

    1995-11-20

    Uniparental disomy (UPD) of a number of different chromosomes has been found in association with abnormal phenotypes. A growing body of evidence for an imprinting effect involving chromosome 14 has been accumulating. We report on a case of paternal UPD of chromosome 14 studied in late gestation due to polyhydramnios and a ventral wall hernia. A prenatal karyotype documented a balanced Robertsonian 14:14 translocation. The baby was born prematurely with hairy forehead, retrognathia, mild puckering of the lips and finger contractures. Hypotonia has persisted since birth and at age one year, a tracheostomy for laryngomalacia and gastrostomy for feeding remain necessary. Absence of maternal VNTR polymorphisms and homozygosity of paternal polymorphisms using chromosome 14 specific probes at D14S22 and D14S13 loci indicated paternal uniparental isodisomy (pUPID). Parental chromosomes were normal. We also report on a case of maternal LTPD in a normal patient with a balanced Robertsonian 14:14 translocation and a history of multiple miscarriages. Five previous reports of chromosome 14 UPD suggest that an adverse developmental effect may be more severe whenever the UPD is paternal in origin. This is the second reported patient with paternal UPD and the fifth reported with maternal UPD, and only few phenotypic similarities are apparent. Examination of these chromosome 14 UPD cases of maternal and paternal origin suggests that there are syndromic imprinting effects. 30 refs., 3 figs.

  11. An extensive molecular cytogenetic characterization in high-risk chronic lymphocytic leukemia identifies karyotype aberrations and TP53 disruption as predictors of outcome and chemorefractoriness

    Science.gov (United States)

    Cavallari, Maurizio; Quaglia, Francesca Maria; Lista, Enrico; Urso, Antonio; Guardalben, Emanuele; Martinelli, Sara; Saccenti, Elena; Bassi, Cristian; Lupini, Laura; Bardi, Maria Antonella; Volta, Eleonora; Tammiso, Elisa; Melandri, Aurora; Negrini, Massimo

    2017-01-01

    We investigated whether karyotype analysis and mutational screening by next generation sequencing could predict outcome in 101 newly diagnosed chronic lymphocytic leukemia patients with high-risk features, as defined by the presence of unmutated IGHV gene and/or 11q22/17p13 deletion by FISH and/or TP53 mutations. Cytogenetic analysis showed favorable findings (normal karyotype and isolated 13q14 deletion) in 30 patients, unfavorable (complex karyotype and/or 17p13/11q22 deletion) in 34 cases and intermediate (all other abnormalities) in 36 cases. A complex karyotype was present in 21 patients. Mutations were detected in 56 cases and were associated with unmutated IGHV status (p = 0.040) and complex karyotype (p = 0.047). TP53 disruption (i.e. TP53 mutations and/or 17p13 deletion by FISH) correlated with the presence of ≥ 2 mutations (p = 0.001) and a complex karyotype (p = 0.012). By multivariate analysis, an advanced Binet stage (p karyotype (p = 0.001) predicted a shorter time to first treatment. TP53 disruption (p = 0.019) and the unfavorable karyotype (p = 0.028) predicted a worse overall survival. A shorter time to chemorefractoriness was associated with TP53 disruption (p = 0.001) and unfavorable karyotype (p = 0.025). Patients with both unfavorable karyotype and TP53 disruption presented a dismal outcome (median overall survival and time to chemorefractoriness of 28.7 and 15.0 months, respectively). In conclusion, karyotype analysis refines risk stratification in high-risk CLL patients and could identify a subset of patients with highly unfavorable outcome requiring alternative treatments. PMID:28427204

  12. Kabuki Syndrome: a case report with severe ocular abnormalities

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    Flavio Mac Cord Medina

    2013-10-01

    Full Text Available Kabuki syndrome is a rare congenital anomaly, characterized by five fundamental features, the "Pentad of Niikawa": dysmorphic facies, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency. Patients present characteristic external ocular features, nonetheless they may also present significant ocular abnormalities. We report a case of a brazilian child diagnosed with Kabuki syndrome, addressing the clinical features observed, with emphasis on the ocular manifestations. This case highlights the existence of this syndrome and all of its complexity. The identification of preventable causes of loss of vision underlines the value of detailed ophthalmologic examination of Kabuki syndrome patients.

  13. A Case with 46,XX,dup(X(q21.3q24 karyotype

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    Selda Şimşek

    2010-03-01

    Full Text Available The relationship between phenotype and Xq duplicationsin females remains unclear. Some females are normal;some have short stature; and others have features suchas microcephaly, developmental delay/mental retardation,body asymmetries, and gonadal dysgenesis. Somefeatures in these females resemble those in Turner syndrome.We, herein, presented a 15 years-old girl withshort stature and primary amenorrhea, who was referredto cytogenetic laboratory. Through karyotipe analysis performedby Giemsa banding technique, the patient wasdetermined to have positive Barr body and 46,XX,dup(X(q21.3q24 chromosomal constitution. Case was discussedaccording to information of present literatures.

  14. Karyotype and identification of sex in two endangered crane species

    Science.gov (United States)

    Goodpasture, C.; Seluja, G.; Gee, G.; Wood, Don A.

    1992-01-01

    A laboratory procedure for sex identification of monomorphic birds was developed using modern cytological methods of detecting chromosome abnormalities in human amniotic fluid samples. A pin feather is taken from a pre-fledging bird for tissue culture and karyotype analysis. Through this method, the sex was identified and the karyotype described of the whooping crane (Grus americana) and the Mississippi sandhill crane (G. canadensis pulla). Giemsa-stained karyotypes of these species showed an identical chromosome constitution with 2n = 78 + 2. However, differences in the amount of centromeric heterochromatin were observed in the Mississippi sandhill crane when compared to the whooping crane C-banded karyotype.

  15. Multiplex ligation-dependent probe amplification assay identifies additional copy number changes compared with R-band karyotype and provide more accuracy prognostic information in myelodysplastic syndromes.

    Science.gov (United States)

    Wang, Jingya; Ai, Xiaofei; Qin, Tiejun; Xu, Zefeng; Zhang, Yue; Liu, Jinqin; Li, Bing; Fang, Liwei; Zhang, Hongli; Pan, Lijuan; Hu, Naibo; Qu, Shiqiang; Cai, Wenyu; Ru, Kun; Jia, Yujiao; Huang, Gang; Xiao, Zhijian

    2017-01-03

    Cytogenetic analysis provides important diagnostic and prognostic information for patients with Myelodysplastic syndromes (MDS) and plays an essential role in the International Prognostic Scoring System (IPSS) and the revised International Prognostic Scoring System (IPSS-R). Multiplex ligation-dependent probe amplification (MLPA) assay is a recently developed technique to identify targeted cytogenetic aberrations in MDS patients. In the present study, we evaluated the results obtained using an MLPA assay in 437 patients with MDS to determine the efficacy of MLPA analysis. Using R-banding karyotyping, 45% (197/437) of MDS patients had chromosomal abnormalities, whereas MLPA analysis detected that 35% (153/437) of MDS cases contained at least one copy-number variations (CNVs) .2/5 individuals (40%) with R-band karyotype failures had trisomy 8 detected using only MLPA. Clonal cytogenetic abnormalities were detected in 20/235 (8.5%) MDS patients with a normal R-band karyotype, and 12/20 (60%) of those patients were reclassified into a higher-risk IPSS-R prognostic category. When sequencing and cytogenetics were combined, the fraction of patients with MDS-related oncogenic lesions increased to 87.3% (233/267 cases). MLPA analysis determined that the median OS of patients with a normal karyotype (n=218) was 65 months compared with 27 months in cases with an aberrant karyotype (P=0.002) in 240 patients with normal or failed karyotypes by R-banding karyotyping. The high-resolution MPLA assay is an efficient and reliable method that can be used in conjunction with R-band karyotyping to detect chromosomal abnormalities in patients with suspected MDS. MLPA may also provide more accurate prognostic information.

  16. Molecular and cytogenetic abnormalities in acute myeloid leukemia: review and case studies

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    Elvira Deolinda Rodrigues Pereira Velloso

    2011-06-01

    Full Text Available Objective: To study the frequency of mutations that maylead to a good or bad prognosis, as well as their relation withthe karyotype and immunophenotype in patients with acutemyeloid leukemia. Methods: Thirty samples of patients withacute myeloid leukemia were studied, in which FLT3-ITD, FLT3-TKD and NPM1 mutations were investigated. All samples weresubmitted to immunophenotyping and 25 to karyotyping. Results:An occurrence of 33.3% NPM1 mutation and an equal numberof FLT3-ITD mutation were observed. When only the cases withnormal karyotype were studied, this figures increased to 50 and40%, respectively. Eight percent of cases with normal karyotypeand genotype NPM1+/FLT3- were included in the group of acutemyeloid leukemia with good prognosis. The typical phenotypeof acute myeloid leukemia with normal karyotype and mutatedNPM1 (HLA-DR and CD34 negative was not observed in thissmall series. Conclusion: Good prognosis cases were identifiedin this series, emphasizing the need to include new geneticmarkers in the diagnostic routine for the correct classification ofacute myeloid leukemia, to more properly estimate prognosis anddetermine treatment.

  17. A RARE CASE OF CONGENITAL ABNORMALITIES OF THE MAXILLOFACIAL REGION

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    Юлия Владимировна Степанова

    2014-09-01

    Full Text Available This article describes a rare case of congenital abnormality: a median facial cleft in combination with congenital complete bilateral cleft lip and palate. An integrated approach to the treatment of children with severe pathology of the maxillofacial area provides a good aesthetic and functional result. Surgical treatment in combination with orthodontic treatment, massage, myogymnastics, dynamic observation of the child contributes to the normal development of the maxillofacial area in a child with a rare congenital facial cleft.

  18. t(X;17) as the sole karyotypic anomaly in a case of M(3r) subtype of acute promyelocytic leukemia without RARalpha rearrangement.

    Science.gov (United States)

    Wang, Huan-Ping; Xu, Huan; Chen, Zhi-Mei; Tong, Xiang-Min; Qian, Wen-Bin; Jin, Jie

    2010-02-01

    We describe here a unique chromosomal abnormality found in a patient with M(3r) subtype of APL. Neither t(15;17) nor rearrangement of RARalpha was detected by routine R-banded chromosome as well as fluorescence in situ hybridization (FISH) analysis using PML/RARalpha dual-color dual-fusion translocation probe and RARalpha dual-color break apart rearrangement probe. Instead of the typical rearrangement between chromosomes 15 and 17, all cells analyzed had a translocation between X and 17 as the sole karyotypic anomaly. The translocation was conformed by whole chromosome painting (WCP) with painting probes of chromosomes X and 17. To our knowledge, this is the first documented APL with a novel translocation involving chromosomes X and 17 without RARalpha gene rearrangement. Copyright 2009. Published by Elsevier Ltd.

  19. Karyotypes, B-chromosomes and meiotic abnormalities in 13 populations of Alebra albostriella and A. wahlbergi (Hemiptera, Auchenorrhyncha, Cicadellidae from Greece

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    Valentina Kuznetsova

    2013-11-01

    Full Text Available In this work 13 populations of the leafhopper species Alebra albostriella (Fallén, 1826 (6 populations and A. wahlbergi (Boheman, 1845 (7 populations (Cicadellidae: Typhlocybinae from Greece were studied cytogenetically. We examined chromosomal complements and meiosis in 41 males of A. albostriella sampled from Castanea sativa, Fagus sylvatica and Quercus cerris and in 21 males of A. wahlbergi sampled from C. sativa, Acer opalus and Ulmus sp. The species were shown to share 2n = 22 + X(0 and male meiosis of the chiasmate preductional type typical for Auchenorrhyncha. In all populations of A. albostriella and in all but two populations of A. wahlbergi B chromosomes and/or different meiotic abnormalities including the end-to-end non-homologous chromosomal associations, translocation chains, univalents, anaphasic laggards besides aberrant sperms were encountered. This study represents the first chromosomal record for the genus Alebra and one of the few population-cytogenetic studies in the Auchenorrhyncha.

  20. Karyotypic studies of 100 mental retarded school children in Bushehr/Iran

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    Manoochehr Shariaty

    2004-02-01

    Full Text Available Mental Retardation (MR is a major complex medical and health problem affecting at least 3-4 percent of world total population. Genetic causes at both the chromosomal and molecular (DNA level accounts for around 50 per cent of all MR cases. To investigate the prevalence of chromosomal abnormalities among mental retarded school age children of Bushehr, 100 mentally retarded school age pupils attending five special training schools aged 10-18 years old were studied using standard Q & G banding techniques. Karyotypes were prepared according to ISCN nomenclature at the 350 bands level. From 96 successfully karyotyped pupils, 25 chomosomal abnormalities were identified in which trisomy 21 was the most frequent abnormality (19 cases. The other observed abnormalities were inversion 9q (two cases, 46,XX+M(one case, 47,XXX/46,XX (one case, 46,XY+15/13 (one case and one case of 47,XXY/46,XY. In conclusion, the overall frequency of chromosomal abnormalities among mental retarded children in Bushehr/Iran is similar to the majority of the West European and Middle Eastern countries and should attract similar health and medical attention & preventive approaches.

  1. Abnormal fetal movements, micrognathia and pulmonary hypoplasia: a case report. Abnormal fetal movements

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    Morokuma Seiichi

    2010-08-01

    Full Text Available Abstract Background Micrognathia is a facial malformation characterized by mandibular hypoplasia and a small, receding chin that fails to maintain the tongue in a forward position. We previously reported a system of prenatal screening that we developed to identify fetuses with compromised central nervous system function by observing fetal behavior. In this paper we report the case of a preterm infant with micrognathia and pulmonary hypoplasia who presented abnormal fetal movements. Case presentation A 27-year-old Japanese primigravida at 33 weeks of gestation was referred to our hospital. Ultrasonographic examination revealed clinical polyhydramnios. Micrognathia was evident on midsagittal and 3 D scan. The lung area was less than the mean -2.0 standard deviations for the gestational age. The infant had mandibular hypoplasia and glossoptosis. After emergency cesarean delivery for non-reasuring fetal status, required immediate tracheostomy and cardiopulmonary resuscitation with mechanical ventilatory support. However, the infant's cardiopulmonary condition did not improve and she died 21 hours after birth. Conclusions The findings of our ultrasound exam are suggestive of brain dysfunction. The observation of fetal behavior appears to be effective for the prediction of prognosis of cases with micrognathia.

  2. Karyotype analysis in large sample cases from Shenyang Women's and Children's hospital: a study of 16,294 male infertility patients.

    Science.gov (United States)

    Gao, M; Pang, H; Zhao, Y-H; Hua, J; Tong, D; Zhao, H; Liu, Y; Zhao, Y; Zhang, M; Yan, X-J; Chen, H; Ma, H-P; Jin, T-Y; Dong, S-L

    2017-05-01

    To explore that it is necessary to routinely detect chromosomes in infertile patients, we investigated peripheral blood lymphocyte karyotype in 16,294 male infertile patients in the north-east of China and analysed the incidence and type of chromosomal anomaly and polymorphism. G-banding karyotype analysis of peripheral blood lymphocytes was performed in 16,294 cases. Semen analysis was performed three times in all the men. PCR and FISH confirmed the presence of the SRY gene. The rate of chromosomal anomaly in the 16,294 male infertile patients was 4.15% (677/16,294). The rates of chromosomal anomaly were 0.24% in normal semen group, 12.6% in light oligoasthenospermia group, 4.7% in moderate-to-severe oligoasthenospermia group and 9.59% in azoospermia group. There are two male infertile patients with 45,X chromosome karyotype. One X male patient had confirmed the presence of the SRY gene and FISH analysis demonstrated its location on the p arm of chromosome 13. The other X male patient had not found SRY gene in its whole-genome DNA. Meanwhile, sperm motility is slightly oligo-asthenozoospermic at the age of 35-39 and nearly azoospermic at the age of 40-45. As the rates of chromosomal anomaly are 0.24% and 12.6% even in normal semen group and light oligoasthenospermia group, the rates of chromosomal polymorphism are 5.36% and 25.51% in normal semen group and light oligoasthenospermia group, respectively; it is necessary to explore peripheral blood lymphocyte karyotype in all infertile couples. We mentioned that Y, 1, 2, 9 and 12 chromosomes were quite important about male infertility. These findings demonstrate that autosomal retention of SRY can be submicroscopic and emphasise the importance of PCR and FISH in the genetic workup of the monosomic X male. At the same time, it suggested that male infertility might be related to meiotic disturbances with spermatogenetic arrest in Y-autosome translocations, which could result in infertility by reduction of sperm

  3. Chromosome analysis using spectral karyotyping (SKY).

    Science.gov (United States)

    Imataka, George; Arisaka, Osamu

    2012-01-01

    Spectral karyotyping is a novel technique for chromosome analysis that has been developed based on the approach of the fluorescence in situ hybridization technique. Spectral karyotyping makes it feasible to diagnose a variety of diseases, because of its technology in painting each of the 24 human chromosomes with different colors. In recent years, it has become possible to adopt the usage of spectral karyotyping for research in general clinical practice, and its usability has attracted particular attention in the diagnosis of different diseases. In this review, we will explain the principle of the spectral karyotyping, as well as its specificity and limitation in detecting the genetic defects within clinical application by presenting two case reports.

  4. Identification of X monosomy cells from a gonad of mixed gonadal dysgenesis with a 46,XY karyotype: case report.

    Science.gov (United States)

    Nishina-Uchida, Noriko; Fukuzawa, Ryuji; Hasegawa, Yukihiro; Morison, Ian M

    2015-04-01

    Mixed gonadal dysgenesis (MGD) is a disorder of sexual development that typically has a mosaic 45,X/46,XY karyotype. A 1-year-old infant with 46,XY identified by peripheral blood karyotype demonstrated clinical manifestations and gonadal pathologic features of MGD. Fluorescence in situ hybridization (FISH) for X and Y chromosomes and immunofluorescence for SRY along with testicular and ovarian lineage markers SOX9 and FOXL2, respectively, were performed on paraffin sections from the gonad to ascertain the somatic mosaic state for 45,X monosomy and 46,XY cells. The gonad consisted of cells with X and XY signals, which were further quantified in comparison with a normal control testis by a digital image analysis program. The average percentages of 45,X cells of this patient's gonad and a control testis were 39.0% and 5.7%, respectively (χ2 test, P < 0.001). SRY expression was absent in approximately 10% of precursor granulosa cells (FOXL2 positive) and precursor Sertoli/granulosa cells (both SOX9 and FOXL2 positive) within gonadoblastomas, confirming the involvement of 45,X cells. A combination of analysis of FISH and immunofluorescence for SRY in the gonadal tissue could identify 45,X cells in MGD with 46,XY.

  5. Congenital heart disease and chromossomopathies detected by the karyotype.

    Science.gov (United States)

    Trevisan, Patrícia; Rosa, Rafael Fabiano M; Koshiyama, Dayane Bohn; Zen, Tatiana Diehl; Paskulin, Giorgio Adriano; Zen, Paulo Ricardo G

    2014-06-01

    To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on. Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome). These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky. Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype.

  6. Congenital heart disease and chromossomopathies detected by the karyotype

    Directory of Open Access Journals (Sweden)

    Patrícia Trevisan

    2014-06-01

    Full Text Available OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype.DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on.DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome. These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky.CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype.

  7. Diabetes Insipidus as an Initial Presentation of Myelodysplastic Syndrome: Diagnosis with Single-Nucleotide Polymorphism Array-Based Karyotyping.

    Science.gov (United States)

    Sun, Ruixue; Wang, Chun; Zhong, Xushu; Wu, Yu

    2016-04-01

    Myelodysplastic syndrome (MDS) is a group of clonal hematopoietic diseases characterized by cytopenia, dysplasia and increased risk of development to acute myeloid leukemia (AML). Unfavorable cytogenetic changes such as complex karyotypes or chromosome 7 anomalies are predictive of the progression to AML and poor prognosis. Central diabetes insipidus (CDI) is the result of a deficiency of arginine vasopressin, and its major causes are idiopathic, primary or secondary tumors, neurosurgery and trauma. Importantly, CDI is a rare complication of MDS. To date, only 5 cases of MDS co-occurring with CDI have been reported; 3 of 5 had cytogenetic abnormalities uncovered by metaphase cytogenetics and 3 of 5 evolved to AML. Here, we describe a 74-year-old woman who presented with CDI as her initial symptom of MDS and eventually progressed to AML. The metaphase cytogenetics, combined with the single-nucleotide polymorphism array (SNP-A)-based karyotyping, with superiority in resolution and detecting copy number variation, revealed a complex karyotype that included monosomy of chromosome 7, deletion of 20q, and absence of heterogeneity (AOH) in more than one chromosome. To the best of our knowledge, this is the first case report of MDS co-occurring with CDI with numerous cytogenetic abnormalities revealed by the SNP-A-based karyotyping. Our case supports that the cytogenetic abnormalities may be associated with the clinical features and the prognosis of MDS co-occurring with CDI. The SNP-A-based karyotyping is helpful in revealing more subtle cytogenetic abnormalities and unveiling their roles in the pathogenesis of MDS.

  8. Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes

    DEFF Research Database (Denmark)

    Aksglaede, L.; Skakkebaek, N.E.; Juul, A.

    2008-01-01

    and elevated LH levels after puberty, whereas the sex hormone secretion of the 47,XYY boys remained normal. CONCLUSION: We found accelerated growth in early childhood in boys with 47,XXY and 47,XYY karyotypes, whereas 46,XX-males were shorter than controls. These abnormal growth patterns were not reflected...... for longitudinal growth in relation to reproductive hormones, IGF-I, and IGF binding protein (IGFBP)-3. SETTING: The study was conducted at an outpatient clinic, Copenhagen University Hospital. PARTICIPANTS: Participants included 86 47,XXY males, 14 46,XX-males, and nine 47,XYY. MAIN OUTCOME MEASURES: Standing...... and sitting height, serum levels of reproductive hormones, IGF-I, and IGFBP-3 were measured. RESULTS: In boys with 47,XXY and 47,XYY karyotypes, growth was accelerated already in childhood, compared with healthy boys. 46,XX-males were significantly shorter than healthy boys but matched the stature of healthy...

  9. Amnesia and vegetative abnormalities after irradiation treatment. A case study

    International Nuclear Information System (INIS)

    Christianson, S.Aa.; Neppe, V.; Hoffman, H.

    1994-01-01

    This paper describes a case of a patient (GX) with a brain tumour in the third ventricle who developed a syndrome of amnestic disorder and vegetative abnormalities (hyperphagia, oligodipsia) after irradiation treatment that followed brain surgery. The patient shows an extremely poor long-term memory on both visually and verbally presented material, and of autobiographical events occurring after the onset of the illness, but some preserved memory functions on short-term memory tasks, semantic memory tasks, and implicit memory tasks. Given the onset of symptoms only after irradiation (a memory deficit in particular), and the non-invasive nature of the surgery, the probable etiology is post-irradiation syndrome. (au) (27 refs.)

  10. Amnesia and vegetative abnormalities after irradiation treatment. A case study

    Energy Technology Data Exchange (ETDEWEB)

    Christianson, S.Aa. (Departments of Psychology, University of Stockholm (Sweden)); Neppe, V. (Department of Psychology, University of Washington, Seattle (United States)); Hoffman, H. (Department of Psychology, Pacific Neuropsychiatric Institute, University of Washington, Settle (United States))

    1994-11-01

    This paper describes a case of a patient (GX) with a brain tumour in the third ventricle who developed a syndrome of amnestic disorder and vegetative abnormalities (hyperphagia, oligodipsia) after irradiation treatment that followed brain surgery. The patient shows an extremely poor long-term memory on both visually and verbally presented material, and of autobiographical events occurring after the onset of the illness, but some preserved memory functions on short-term memory tasks, semantic memory tasks, and implicit memory tasks. Given the onset of symptoms only after irradiation (a memory deficit in particular), and the non-invasive nature of the surgery, the probable etiology is post-irradiation syndrome. (au) (27 refs.).

  11. [Perinatal and pediatric follow up of children with increased nuchal translucency and normal karyotype].

    Science.gov (United States)

    Vieira, Lívia Adriano; Silva, Sônia Valadares Lemos; de Faria, Roberto Buenfil; Lippi, Umberto Gazi; Lopes, Reginaldo Guedes Coelho

    2013-06-01

    To analyze the perinatal and pediatric outcome of fetuses that showed nuchal translucency (NT) above the 95th percentile (P95) and a normal karyotype in order to obtain data allowing better maternal prenatal counseling. fetuses from a tertiary obstetric service with an NT above P95 and a normal karyotype were analyzed between 2005 and 2011. We analyzed gestational ultrasound follow-up, fetal and postnatal echocardiography (ECHO), weight, length and Apgar score at birth, and neuropsychomotor development by the Ages and Stages Questionnaire (ASQ) up to July 2012. During this period, there were 116 cases of nuchal translucency above the 95th percentile, and the fetal karyotype was determined in 79 of them (68%). Forty-three analyses were normal (54.4%) and 36 were altered (45.6%). Among the fetuses with a normal karyotype, one was miscarried at 15 weeks of gestation with Cantrel pentalogy and one died at 24 weeks with several structural abnormalities. There was one neonatal death of unknown cause and two cases of intraventricular communication (IVC) detected by fetal ECHO. Postnatal echocardiography revealed the persistence of IVC in one case and one case of atrial septal defect (ASD) and patent ductus arteriosus (PDA). Of the 40 surviving children, only 1 showed delayed speech development and another presented autism. The remaining cases resulted in normal neurodevelopment. During the monitoring of fetuses with increased NT and a normal karyotype, parents can be best advised that when a 2nd trimester morphological-echocardiography ultrasound study is normal, the probability of the child being born alive and well is high (93.5%).

  12. Care of women with XY karyotype

    DEFF Research Database (Denmark)

    Jorgensen, Pernille Bach; Kjartansdóttir, Kristín Rós; Fedder, Jens

    2010-01-01

    OUTCOME MEASURE(S): Evaluation of etiology, diagnosis, treatment, and associated disorders in XY women. RESULT(S): Many gene mutations can cause abnormal fetal development leading to androgen insensitivity syndrome or gonadal dysgenesis disorders. Females with these disorders have an XY karyotype but look....... CONCLUSION(S): A precise diagnosis is important, because the treatment possibilities (e.g., use of allogenic oocytes) depend on the subgroup to which the XY female belongs....

  13. [Cytogentic and prognostic characteristic of acute myeloid leukemia with monosomal karyotype].

    Science.gov (United States)

    Li, Z; Wei, H; Lin, D; Zhou, C L; Liu, B C; Wang, Y; Liu, K Q; Li, W; Gong, B F; Wei, S N; Zhang, G J; Zhao, X L; Li, Y; Liu, Y T; Gong, X Y; Gu, R X; Qiu, S W; Mi, Y C; Wang, J X

    2016-05-14

    To explore the cytogenetic and prognostic significance of monosomal karyotype (MK) in adult patients with acute myeloid leukemia (AML). From September 2002 to November 2014 in Blood Diseases Hospital, Chinese Academy of Medical Sciences, 97 cases with AML were enrolled, including 96 cases within unfavorable cytogenetic category and an MK case within the intermediate category. The clinical data of MK-positive cases and unfavorable risk MK-negative cases were analyzed. There were 31 MK cases, accounting for 2.5% of the AML patients treated at the same period. Thirty of them were complex aberrant karyotypes defined as showing three or more clonal abnormalities and classified into adverse group based on SWOG criteria. The rest one of these 31 MK was intermediate risk according to SWOG criteria. Among MK cases, the most frequent monosomal chromosome were -17, -5, -7, -21, -8, -22. In 96 cytogenetic unfavorable AML cases, the median OS period was 6.1 months for MK, the median OS period did not reach for non-MK AML (P=0.001). And the median relapse free survival (RFS) period was 3.1 and 18.6 months for MK and non-MK AML (Pkaryotype AML cases, the median OS was 6.1 and 10.8 months for MK and non-MK AML (P=0.088), respectively. And the median RFS was 3.1 and 8.6 months for MK and non-MK AML (P=0.009), respectively. The RFS varied significantly between MK and non-MK categories. Most MK patients were complex karyotype in cytogenetic unfavorable group. Within unfavorable or complex karyotype categories, MK-positive cases had a more adverse prognosis than MK-negative cases.

  14. Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes

    DEFF Research Database (Denmark)

    Aksglaede, L.; Skakkebaek, N.E.; Juul, A.

    2008-01-01

    CONTEXT: Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles. AIM: The aim of the study was to evaluate the role of abnormal chromosome constitution for longitu......CONTEXT: Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles. AIM: The aim of the study was to evaluate the role of abnormal chromosome constitution...... and sitting height, serum levels of reproductive hormones, IGF-I, and IGFBP-3 were measured. RESULTS: In boys with 47,XXY and 47,XYY karyotypes, growth was accelerated already in childhood, compared with healthy boys. 46,XX-males were significantly shorter than healthy boys but matched the stature of healthy...... and elevated LH levels after puberty, whereas the sex hormone secretion of the 47,XYY boys remained normal. CONCLUSION: We found accelerated growth in early childhood in boys with 47,XXY and 47,XYY karyotypes, whereas 46,XX-males were shorter than controls. These abnormal growth patterns were not reflected...

  15. AML with 11q23/MLL abnormalities as defined by the WHO classification: incidence, partner chromosomes, FAB subtype, age distribution, and prognostic impact in an unselected series of 1897 cytogenetically analyzed AML cases.

    Science.gov (United States)

    Schoch, Claudia; Schnittger, Susanne; Klaus, Mirjam; Kern, Wolfgang; Hiddemann, Wolfgang; Haferlach, Torsten

    2003-10-01

    Acute myeloid leukemia (AML) cases with 11q23 abnormalities involving the MLL gene comprise one category of recurring genetic abnormalities in the WHO classification. In an unselected series of 1897 AML cases, 54 patients with an 11q23/MLL rearrangement were identified, resulting in an incidence of 2.8%. The incidence of AML with MLL rearrangement was significantly higher in therapy-related AML (t-AML) than in de novo AML (9.4% vs 2.6%, P FAB) subtypes (P <.0001). Compared with AML with intermediate karyotype, AML with 11q23/MLL rearrangement had a worse outcome, which was rather comparable with AML with unfavorable karyotype. Compared with t-AML, the median overall survival (OS) of de novo AML with MLL rearrangement was significantly better (2.5 vs 10 months, P =.0143). No significant differences in median OS were observed between cases with t(9;11) compared with all other MLL rearrangements (10.0 vs 8.9 months, P =.36). In conclusion, the category AML with 11q23/MLL abnormalities accounts for 2.8% of unselected AML, is closely associated with monocytic differentiation, and has a dismal prognosis. (

  16. Systematic review of accuracy of prenatal diagnosis for abnormal chromosome diseases by microarray technology.

    Science.gov (United States)

    Xu, H B; Yang, H; Liu, G; Chen, H

    2014-10-31

    The accuracy of prenatal diagnosis for abnormal chromosome diseases by chromosome microarray technology and karyotyping were compared. A literature search was carried out in the MEDLINE database with the keywords "chromosome" and "karyotype" and "genetic testing" and "prenatal diagnosis" and "oligonucleotide array sequence". The studies obtained were filtered by using the QUADAS tool, and studies conforming to the quality standard were fully analyzed. There was one paper conforming to the QUADAS standards including 4406 gravidas with adaptability syndromes of prenatal diagnosis including elderly parturient women, abnormal structure by type-B ultrasound, and other abnormalities. Microarray technology yielded successful diagnoses in 4340 cases (98.8%), and there was no need for tissue culture in 87.9% of the samples. All aneuploids and non-parallel translocations in 4282 cases of non-chimera identified by karyotyping could be detected using microarray analysis technology, whereas parallel translocations and fetal triploids could not be detected by microarray analysis technology. In the samples with normal karyotyping results, type-B ultrasound showed that 6% of chromosomal deficiencies or chromosome duplications could be detected by microarray technology, and the same abnormal chromosomes were detected in 1.7% of elderly parturient women and samples with positive serology screening results. In the prenatal diagnosis test, compared with karyotyping, microarray technology could identify the extra cell genetic information with clinical significance, aneuploids, and non-parallel translocations; however, its disadvantage is that it could not identify parallel translocations and triploids.

  17. Karyotype analysis of Rheum palmatum.

    Science.gov (United States)

    Ye, J Q; Jia, Y Y; Fan, K; Sun, X J; Wang, X M

    2014-10-31

    Rheum palmatum, one of the source plants of the traditional Chinese medicine rhubarb, is anendemic and endangered species. To our knowledge, this is the first report on the chromosome number and karyotype of this species. Sectioning combined with micrography was used to analyze the karyotype. The following results were obtained: R. palmatum had a stable chromosome number 2n = 22; the basic number of chromosomes was 11; karyotype formula is 2n = 22 = 20 metacentric + 2 submetacentric, belonging to Stebbins' 1A type; and karyotype asymmetry index was 55.39%. The present study showed that R. palmatum has a primitive type of karyotype.

  18. Cytokine expression patterns and mesenchymal stem cell karyotypes from the bone marrow microenvironment of patients with myelodysplastic syndromes

    International Nuclear Information System (INIS)

    Xiong, H.; Yang, X.Y.; Han, J.; Wang, Q.; Zou, Z.L.

    2015-01-01

    The purpose of this study was to explore cytokine expression patterns and cytogenetic abnormalities of mesenchymal stem cells (MSCs) from the bone marrow microenvironment of Chinese patients with myelodysplastic syndromes (MDS). Bone marrow samples were obtained from 30 cases of MDS (MDS group) and 30 healthy donors (control group). The expression pattern of cytokines was detected by customized protein array. The karyotypes of MSCs were analyzed using fluorescence in situ hybridization. Compared with the control group, leukemia inhibitory factor, stem cell factor (SCF), stromal cell-derived factor (SDF-1), bone morphogenetic protein 4, hematopoietic stem cell (HSC) stimulating factor, and transforming growth factor-β in the MDS group were significantly downregulated (P<0.05), while interferon-γ (IFN-γ), tumor necrosis factor-α (TNF-α), and programmed death ligand (B7-H1) were significantly upregulated (P<0.05). For chromosome abnormality analysis, the detection rate of abnormal karyotypes (+8, -8, -20, 20q-, -Y, -7, 5q-) was 30% in the MDS group and 0% in the control group. In conclusion, the up- and downregulated expression of these cytokines might play a key role in the pathogenesis of MDS. Among them, SCF and SDF-1 may play roles in the apoptosis of HSCs in MDS; and IFN-γ, TNF-α, and B7-H1 may be associated with apoptosis of bone marrow cells in MDS. In addition, the abnormal karyotypes might be actively involved in the pathogenesis of MDS. Further studies are required to determine the role of abnormal karyotypes in the occurrence and development of MDS

  19. Cytokine expression patterns and mesenchymal stem cell karyotypes from the bone marrow microenvironment of patients with myelodysplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Xiong, H.; Yang, X.Y.; Han, J.; Wang, Q.; Zou, Z.L. [Department of Hematology, Shanghai Clinical Research Center, Chinese Academy of Sciences, Shanghai Xuhui District Central Hospital, Shanghai (China)

    2015-01-20

    The purpose of this study was to explore cytokine expression patterns and cytogenetic abnormalities of mesenchymal stem cells (MSCs) from the bone marrow microenvironment of Chinese patients with myelodysplastic syndromes (MDS). Bone marrow samples were obtained from 30 cases of MDS (MDS group) and 30 healthy donors (control group). The expression pattern of cytokines was detected by customized protein array. The karyotypes of MSCs were analyzed using fluorescence in situ hybridization. Compared with the control group, leukemia inhibitory factor, stem cell factor (SCF), stromal cell-derived factor (SDF-1), bone morphogenetic protein 4, hematopoietic stem cell (HSC) stimulating factor, and transforming growth factor-β in the MDS group were significantly downregulated (P<0.05), while interferon-γ (IFN-γ), tumor necrosis factor-α (TNF-α), and programmed death ligand (B7-H1) were significantly upregulated (P<0.05). For chromosome abnormality analysis, the detection rate of abnormal karyotypes (+8, -8, -20, 20q-, -Y, -7, 5q-) was 30% in the MDS group and 0% in the control group. In conclusion, the up- and downregulated expression of these cytokines might play a key role in the pathogenesis of MDS. Among them, SCF and SDF-1 may play roles in the apoptosis of HSCs in MDS; and IFN-γ, TNF-α, and B7-H1 may be associated with apoptosis of bone marrow cells in MDS. In addition, the abnormal karyotypes might be actively involved in the pathogenesis of MDS. Further studies are required to determine the role of abnormal karyotypes in the occurrence and development of MDS.

  20. Abnormal mitochondria in Rett syndrome: one case report.

    Science.gov (United States)

    Mak, S C; Chi, C S; Chen, C H; Shian, W J

    1993-08-01

    A 6-year-9-month-old girl with the characteristic features of Rett syndrome is reported. Clinically, she had microcephaly, psychomotor arrest, deterioration of communication, autistic behaviour, loss of language development, gait apraxia and stereotyped hand washing movement. Amino acid and organic acid analysis were normal. An abnormal rise in serum lactate was noted 120 minutes after oral glucose loading. Muscle biopsy was performed and there was no specific finding noted under light microscope. Electron microscopic evaluation revealed mild accumulation of mitochondria at subsarcolemmal area with abnormal tubular cristae. The cause of Rett syndrome remains obscure. Several articles concerning abnormal mitochondrial morphology or respiratory enzymes have been reported. The exact pathogenesis requires further investigation.

  1. Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception

    Directory of Open Access Journals (Sweden)

    D Saxena

    2016-01-01

    Full Text Available Background and Introduction: Chromosomal abnormality is found in about half of first-trimester abortions. Karyotype is the gold standard to detect chromosomal abnormalities. Multiplex ligation-dependent probe amplification (MLPA offers advantage over karyotype in terms of lower failure rate, faster turnaround time, and much higher resolution than conventional karyotyping and found to be 98% concordant with conventional karyotype. Aim: We performed this study to look for the utility of MLPA in diagnosing chromosomal abnormalities in first-trimester abortions. Materials and Methods: MLPA using subtelomeric SALSA probe sets (P036 and P070 was used to detect cytogenetic abnormalities in products of conception in missed/spontaneous abortions. Results: A total of ninety abortus samples were analyzed by MLPA. Successful results were provided in (67 74.4% of the cases while no conclusion could be drawn in 25.6% (23 of the cases. Fifty-five (82.1% cases were cytogenetically normal and 17.9% (12 had some abnormality. Aneuploidy was detected in 8 (66.7% cases, 3 (25% had double-segment imbalance, and one (8.3% had partial aneuploidy. Conclusion: We suggest that MLPA is a good substitute to traditional karyotype.

  2. Karyotype complexity and prognosis in acute myeloid leukemia.

    Science.gov (United States)

    Stölzel, F; Mohr, B; Kramer, M; Oelschlägel, U; Bochtler, T; Berdel, W E; Kaufmann, M; Baldus, C D; Schäfer-Eckart, K; Stuhlmann, R; Einsele, H; Krause, S W; Serve, H; Hänel, M; Herbst, R; Neubauer, A; Sohlbach, K; Mayer, J; Middeke, J M; Platzbecker, U; Schaich, M; Krämer, A; Röllig, C; Schetelig, J; Bornhäuser, M; Ehninger, G

    2016-01-15

    A complex aberrant karyotype consisting of multiple unrelated cytogenetic abnormalities is associated with poor prognosis in patients with acute myeloid leukemia (AML). The European Leukemia Net classification and the UK Medical Research Council recommendation provide prognostic categories that differ in the definition of unbalanced aberrations as well as the number of single aberrations. The aim of this study on 3526 AML patients was to redefine and validate a cutoff for karyotype complexity in AML with regard to adverse prognosis. Our study demonstrated that (1) patients with a pure hyperdiploid karyotype have an adverse risk irrespective of the number of chromosomal gains, (2) patients with translocation t(9;11)(p21∼22;q23) have an intermediate risk independent of the number of additional aberrations, (3) patients with ⩾4 abnormalities have an adverse risk per se and (4) patients with three aberrations in the absence of abnormalities of strong influence (hyperdiploid karyotype, t(9;11)(p21∼22;q23), CBF-AML, unique adverse-risk aberrations) have borderline intermediate/adverse risk with a reduced overall survival compared with patients with a normal karyotype.

  3. A case of refractory anemia with chromosomal abnormality (5q-) in Nagasaki atomic bomb survivor

    International Nuclear Information System (INIS)

    Kusano, Miyuki; Ikeda, Shuichi; Tomonaga, Yu; Sadamori, Naoki; Matsunaga, Masako

    1978-01-01

    Although assumed to be almost free from the effect of A-bomb radiation on the basis of the estimated dose, this case had progressive anemia with a specific manifestation and disclosed a clone with chromosomal abnormality (5q - ). In pure leukemia, a clone of abnormal chromosome is considered exactly that of leukemia. However, the presence of clones with chromosomal abnormality which are found in polycythemia vera or myelofibrosis do not always denote the leukemic changes. There is no established theory as to the significance of the clones with chromosomal abnormality in refractory anemia. Thus the interpretation of chromosomal abnormality in blood diseases is very difficult. Therefore analysis of chromosomes will be made actively in leukemia and related diseases as well as refractory anemia and preleukemia, and those will be compared in detail to search the relation between on occurrence of leukemia and chromosomal abnormality and also that between chromosomal abnormality and exposure to radiation. (Ueda, J.)

  4. Somatosensory abnormalities in atypical odontalgia: A case-control study.

    Science.gov (United States)

    List, Thomas; Leijon, Göran; Svensson, Peter

    2008-10-15

    Somatosensory function in patients with persistent idiopathic types of orofacial pain like atypical odontalgia (AO) is not well described. This study tested the hypothesis that AO patients have significantly more somatosensory abnormalities than age- and sex-matched controls. Forty-six AO patients and 35 controls participated. Inclusion criteria for AO were pain in a region where a tooth had been endodontically or surgically treated, persistent pain >6 months, and lack of clinical and radiological findings. The examination included qualitative tests and a battery of intraoral quantitative sensory testing (QST). Most AO patients (85%) had qualitative somatosensory abnormality compared with few controls (14%). The most common qualitative abnormalities in AO patients were found with pin-prick 67.4%, cold 47.8%, and touch 46.5% compared with 11.4%, 8.6%, and 2.9%, respectively, in the control group (P<0.001). Between-group differences were seen for many intraoral QST: mechanical detection threshold, mechanical pain threshold (pinprick), dynamic mechanical allodynia (brush), dynamic mechanical allodynia (vibration), wind-up ratio, and pressure pain threshold (P<0.01). In the trigeminal area, between-group differences in thermal thresholds were nonsignificant while differences in cold detection at the thenar eminence were significant. Individual somatosensory profiles revealed complex patterns with hyper- and hyposensitivity to intraoral QST. Between-group differences in pressure pain thresholds (P<0.02) were observed at the thenar eminence. In conclusion, significant abnormalities in intraoral somatosensory function were observed in AO, which may reflect peripheral and central sensitization of trigeminal pathways. More generalized sensitization of the nociceptive system may also be part of AO pathophysiology.

  5. The risk of menstrual abnormalities after tubal sterilization: a case control study

    OpenAIRE

    shobeiri, Mehri Jafari; AtashKhoii, Simin

    2005-01-01

    Abstract Background Tubal sterilization is the method of family planning most commonly used. The existence of the post-tubal-ligation syndrome of menstrual abnormalities has been the subject of debate for decades. Methods In a cross-sectional study, 112 women with the history of Pomeroy type of tubal ligation achieved by minilaparatomy as the case group and 288 women with no previous tubal ligation as the control group were assessed for menstrual abnormalities. Results Menstrual abnormalities...

  6. A rare case of abnormal uterine bleeding caused by cavernous hemangioma: a case report

    Directory of Open Access Journals (Sweden)

    Telesinghe PU

    2010-05-01

    Full Text Available Abstract Introduction Cavernous hemangiomas of the uterus are extremely rare, benign lesions. A survey of the current literature identified fewer than 50 cases of hemangioma of the uterus. Case presentation We report a case of cavernous hemangioma of the uterus in a 27-year-old Malay, para 1 woman who presented at our hospital with torrential vaginal bleeding having been transferred by land ambulance from a district hospital 30 minutes away. 11 weeks previously she had an urgent cesarean section at our hospital. She had to undergo a hysterectomy to control her bleeding after other measures were unsuccessful. A histopathological report confirmed a diffuse ramifying hemangioma of the cervix and uterus with left hematosalpinx. Conclusion Most ramifying hemangioma lesions are asymptomatic and are found incidentally, but sometimes they may cause abnormal vaginal bleeding and hence should be included in the differential diagnosis of patients with vaginal bleeding. Hysterectomy is the primary mode of treatment in most symptomatic cases.

  7. Delusional misidentification secondary to perceptual abnormality: An unusual case of Capgras syndrome.

    Science.gov (United States)

    Cavanagh, P J

    2000-01-01

    Capgras syndrome is the commonest of the delusional misidentification syndromes, occurring in 1 - 5% of psychotic patients. This case of a Capgras syndrome was secondary to an abnormal percept (auditory hallucination). Capgras syndrome is not a symptom specific to abnormalities of face recognition. ( Int J Psych Clin Pract 2000; 4: ).

  8. Clinical Utility of Array Comparative Genomic Hybridization for Detection of Chromosomal Abnormalities in Pediatric Acute Lymphoblastic Leukemia

    Science.gov (United States)

    Rabin, Karen R.; Man, Tsz-Kwong; Yu, Alexander; Folsom, Matthew R.; Zhao, Yi-Jue; Rao, Pulivarthi H.; Plon, Sharon E.; Naeem, Rizwan C.

    2014-01-01

    Background Accurate detection of recurrent chromosomal abnormalities is critical to assign patients to risk-based therapeutic regimens for pediatric acute lymphoblastic leukemia (ALL). Procedure We investigated the utility of array comparative genomic hybridization (aCGH) for detection of chromosomal abnormalities compared to standard clinical evaluation with karyotype and fluorescent in-situ hybridization (FISH). Fifty pediatric ALL diagnostic bone marrows were analyzed by bacterial artificial chromosome (BAC) array, and findings compared to standard clinical evaluation. Results Sensitivity of aCGH was 79% to detect karyotypic findings other than balanced translocations, which cannot be detected by aCGH because they involve no copy number change. aCGH also missed abnormalities occurring in subclones constituting less than 25% of cells. aCGH detected 44 additional abnormalities undetected or misidentified by karyotype, 21 subsequently validated by FISH, including abnormalities in 4 of 10 cases with uninformative cytogenetics. aCGH detected concurrent terminal deletions of both 9p and 20q in three cases, in two of which the 20q deletion was undetected by karyotype. A narrow region of loss at 7p21 was detected in two cases. Conclusions An array with increased BAC density over regions important in ALL, combined with PCR for fusion products of balanced translocations, could minimize labor- and time-intensive cytogenetic assays and provide key prognostic information in the approximately 35% of cases with uninformative cytogenetics. PMID:18253961

  9. Cholescintigraphic abnormality in a case of Kawasaki syndrome

    International Nuclear Information System (INIS)

    Zanzi, I.; Cuomo Perpignano, M.; Margouleff, D.; Aiges, H.

    1985-01-01

    A 26-month-old girl with Kawasaki syndrome (mucocutaneous lymph node syndrome) is presented. Liver function studies were abnormal and sonographic examination revealed hydrops of the gallbladder. The Tc-99m DISIDA cholescintigraphy demonstrated both early and delayed nonvisualization of the gallbladder. A photopenic area was noted in and below the gallbladder fossa and there was medial and upward displacement of the common bile duct. It appears that Kawasaki syndrome may result in nonvisualization of the gallbladder by cholescintigraphy. Accordingly, this diagnosis should be added to the list of conditions associated with nonvisualization of the gallbladder by biliary scintigraphy

  10. A rare case of abnormal uterine bleeding caused by cavernous hemangioma: a case report.

    Science.gov (United States)

    Benjamin, Mridula A; Yaakub, Hjh Roselina; Telesinghe, Pu; Kafeel, Gazala

    2010-05-17

    Cavernous hemangiomas of the uterus are extremely rare, benign lesions. A survey of the current literature identified fewer than 50 cases of hemangioma of the uterus. We report a case of cavernous hemangioma of the uterus in a 27-year-old Malay, para 1 woman who presented at our hospital with torrential vaginal bleeding having been transferred by land ambulance from a district hospital 30 minutes away. 11 weeks previously she had an urgent cesarean section at our hospital. She had to undergo a hysterectomy to control her bleeding after other measures were unsuccessful. A histopathological report confirmed a diffuse ramifying hemangioma of the cervix and uterus with left hematosalpinx. Most ramifying hemangioma lesions are asymptomatic and are found incidentally, but sometimes they may cause abnormal vaginal bleeding and hence should be included in the differential diagnosis of patients with vaginal bleeding. Hysterectomy is the primary mode of treatment in most symptomatic cases.

  11. Noninvasive prenatal molecular karyotyping from maternal plasma.

    Directory of Open Access Journals (Sweden)

    Stephanie C Y Yu

    Full Text Available Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively. Case reports describing the detection of fetal microdeletions from maternal plasma using massively parallel sequencing have been reported. However, these previous reports were either polymorphism-dependent or used statistical analyses which were confined to one or a small number of selected parts of the genome. In this report, we reported a procedure for performing noninvasive prenatal karyotyping at 3 Mb resolution across the whole genome through the massively parallel sequencing of maternal plasma DNA. This method has been used to analyze the plasma obtained from 6 cases. In three cases, fetal microdeletions have been detected successfully from maternal plasma. In two cases, fetal microduplications have been detected successfully from maternal plasma. In the remaining case, the plasma DNA sequencing result was consistent with the pregnant mother being a carrier of a microduplication. Simulation analyses were performed for determining the number of plasma DNA molecules that would need to be sequenced and aligned for enhancing the diagnostic resolution of noninvasive prenatal karyotyping to 2 Mb and 1 Mb. In conclusion, noninvasive prenatal molecular karyotyping from maternal plasma by massively parallel sequencing is feasible and would enhance the diagnostic spectrum of noninvasive prenatal testing.

  12. Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center.

    Science.gov (United States)

    Lau, T K; Cheung, S W; Lo, P S S; Pursley, A N; Chan, M K; Jiang, F; Zhang, H; Wang, W; Jong, L F J; Yuen, O K C; Chan, H Y C; Chan, W S K; Choy, K W

    2014-03-01

    To review the performance of non-invasive prenatal testing (NIPT) by low-coverage whole-genome sequencing of maternal plasma DNA at a single center. The NIPT result and pregnancy outcome of 1982 consecutive cases were reviewed. NIPT was based on low coverage (0.1×) whole-genome sequencing of maternal plasma DNA. All subjects were contacted for pregnancy and fetal outcome. Of the 1982 NIPT tests, a repeat blood sample was required in 23 (1.16%). In one case, a conclusive report could not be issued, probably because of an abnormal vanished twin fetus. NIPT was positive for common trisomies in 29 cases (23 were trisomy 21, four were trisomy 18 and two were trisomy 13); all were confirmed by prenatal karyotyping (specificity=100%). In addition, 11 cases were positive for sex-chromosomal abnormalities (SCA), and nine cases were positive for other aneuploidies or deletion/duplication. Fourteen of these 20 subjects agreed to undergo further investigations, and the abnormality was found to be of fetal origin in seven, confined placental mosaicism (CPM) in four, of maternal origin in two and not confirmed in one. Overall, 85.7% of the NIPT-suspected SCA were of fetal origin, and 66.7% of the other abnormalities were caused by CPM. Two of the six cases suspected or confirmed to have CPM were complicated by early-onset growth restriction requiring delivery before 34 weeks. Fetal outcome of the NIPT-negative cases was ascertained in 1645 (85.15%). Three chromosomal abnormalities were not detected by NIPT, including one case each of a balanced translocation, unbalanced translocation and triploidy. There were no known false negatives involving the common trisomies (sensitivity=100%). Low-coverage whole-genome sequencing of maternal plasma DNA was highly accurate in detecting common trisomies. It also enabled the detection of other aneuploidies and structural chromosomal abnormalities with high positive predictive value. Copyright © 2013 ISUOG. Published by John Wiley & Sons

  13. Karyotype Learning Center: A Software For Teaching And Learning Cytogenetics

    Directory of Open Access Journals (Sweden)

    Joelma Freire De Mesquita

    2004-05-01

    Full Text Available The in vitro cultivation of human cells is an essential part of the work of every diagnostic cytoge-netics laboratory. Almost all human cytogenetic studies involve the examination of dividing bloodcell population by blocking cell division at metaphase with subsequent processing and staining bybanding techniques. The chromosome constitution is described as Karyotype that states the totalnumber of chromosomes and the sex chromosome constitution. Karyotypes are prepared by cuttingup a photograph of the spread metaphase chromosomes, matching up homologous chromosomes andsticking them back down on a card or nowadays more often by getting an image analysis computerto do the job. Chromosomes are identied by their size, centromere position and banding pattern.Teaching a student how to detect and interpret even the most common chromosome abnormaliti-es is a major challenge: mainly, in a developing country where the laboratorial facilities are notalways available for a big number of students. Therefore, in this work we present an educationalsoftware for teaching undergraduate students of Medical and Life Sciences Courses how to arrangenormal and abnormal chromosomes in the form of karyotype. The user, using drag-and-drop, is da-red to match up homologous chromosome. For that, we have developed a free full access web site(http://www.biomol.net/cariotipo/ for hosting the software. The latter has proved to be light andfast even under slow dial-up connections. This web site also oers a theoretical introductory sectionwith basic concepts about karyotype. Up to now the software has been successfully applied to un-dergraduate courses at the University of Rio de Janeiro (UNIRIO. The students have approved thesoftware; to them the similarities with the well-known game solitaire turns the exercise more excitingand provides additional stimulus to learn and understand karyotype. Professors have also used thesoftware as complementary material in their regular classes

  14. FLT-3 ITD Positive Acute Basophilic Leukemia with Rare Complex Karyotype Presenting with Acute Respiratory Failure: Case Report

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    Antohe Ion

    2018-01-01

    Full Text Available Background: Acute basophilic leukemia is a rare subtype of acute myeloid leukemia, as categorized by the 2008 World Health Organization classification of myeloid neoplasms. Acute basophilic leukemia diagnosis requires thorough morphological, cytochemical, immunophenotypic, molecular, and cytogenetic studies and exclusion of other hematological neoplasms associating basophilia. The disease course is defined by histamine driven, occasionally life-threatening respiratory, cardiovascular, cutaneous or digestive complications, as well as primary refractoriness to standard therapy. Clinical presentation: We herein report a case of a 63-year-old asthmatic female patient diagnosed with acute basophilic leukemia, associated with previously unpublished cytogenetic features and FLT-3 ITD mutation, pulmonary leukostasis and spontaneous pulmonary capillary leak syndrome, which worsened immediately following chemotherapy initiation. Respiratory complications were successfully managed, but recrudesced upon emergence of refractory disease and were ultimately fatal. We highlight the likelihood of pulmonary complications induced by basophil degranulation and tumor lysis in hypercellular acute basophilic leukemia and the potential benefit of histamine receptor blockade in this setting.

  15. CT abnormality in multiple sclerosis analysis based on 28 probable cases and correlation with clinical manifestations

    International Nuclear Information System (INIS)

    Kakigi, Ryusuke; Shibasaki, Hiroshi; Tabira, Takeshi; Kuroiwa, Yoshigoro; Numaguchi, Yuji.

    1981-01-01

    In order to investigate the occurrence and nature of CT abnormality and its correlation with clinical manifestations in multiple sclerosis, 34 CT records obtained from 28 consecutive patients with probable multiple sclerosis were reviewed. Forty-six percent of all cases showed abnormal CT. Dilatation of cortical sulci was found in 39%; dilatation of the lateral ventricle in 36%; dilatation of prepontine or cerebello-pontine cistern and the fourth ventricle, suggesting brainstem atrophy, in 18%; dilatation of cerebellar sulci, superior cerebellar cistern and cisterna magna, suggesting cerebellar atrophy, in 11%. Low density area was found in the cerebral hemisphere in 11% of cases. Contrast enhancement, performed on 25 CT records, did not show any change. There was no correlation between CT abnormality and duration of the illness. Although abnormal CT tended to occur more frequently during exacerbations and chronic stable state than during remissions, the difference was not statistically significant. CT abnormalities suggesting brainstem atrophy, cerebellar atrophy or plaques were found exclusively during exacerbations and chronic stable state. The occurrence of CT abnormalities was not significantly different among various clinical forms which were classified based on clinically estimated sites of lesion, except that abnormal CT tended to occur less frequently in cases classified as the optic-spinal form. It is noteworthy that cerebral cortical atrophy and/or dilatation of the lateral ventricle were found in 31% of cases who did not show any clinical sign of cerebral involvement. There was a statistically significant correlation between CT abnormalities and levels of clinical disability. Eighty percent of the bedridden or severely disabled patients showed abnormal CT, in contrast with only 29% of those with moderate, slight or no disability. (author)

  16. CT abnormality in multiple sclerosis analysis based on 28 probable cases and correlation with clinical manifestations

    Energy Technology Data Exchange (ETDEWEB)

    Kakigi, R.; Shibasaki, H.; Tabira, T.; Kuroiwa, Y. (Kyushu Univ., Fukuoka (Japan). Faculty of Medicine); Numaguchi, Y.

    1981-10-01

    In order to investigate the occurrence and nature of CT abnormality and its correlation with clinical manifestations in multiple sclerosis, 34 CT records obtained from 28 consecutive patients with probable multiple sclerosis were reviewed. Forty-six percent of all cases showed abnormal CT. Dilatation of cortical sulci was found in 39%; dilatation of the lateral ventricle in 36%; dilatation of prepontine or cerebello-pontine cistern and the fourth ventricle, suggesting brainstem atrophy, in 18%; dilatation of cerebellar sulci, superior cerebellar cistern and cisterna magna, suggesting cerebellar atrophy, in 11%. Low density area was found in the cerebral hemisphere in 11% of cases. Contrast enhancement, performed on 25 CT records, did not show any change. There was no correlation between CT abnormality and duration of the illness. Although abnormal CT tended to occur more frequently during exacerbations and chronic stable state than during remissions, the difference was not statistically significant. CT abnormalities suggesting brainstem atrophy, cerebellar atrophy or plaques were found exclusively during exacerbations and chronic stable state. The occurrence of CT abnormalities was not significantly different among various clinical forms which were classified based on clinically estimated sites of lesion, except that abnormal CT tended to occur less frequently in cases classified as the optic-spinal form. It is noteworthy that cerebral cortical atrophy and/or dilatation of the lateral ventricle were found in 31% of cases who did not show any clinical sign of cerebral involvement. There was a statistically significant correlation between CT abnormalities and levels of clinical disability. Eighty percent of the bedridden or severely disabled patients showed abnormal CT, in contrast with only 29% of those with moderate, slight or no disability.

  17. Evidence for Karyotype Polymorphism in the Free-Living Flatworm, Macrostomum lignano, a Model Organism for Evolutionary and Developmental Biology.

    Science.gov (United States)

    Zadesenets, Kira S; Vizoso, Dita B; Schlatter, Aline; Konopatskaia, Irina D; Berezikov, Eugene; Schärer, Lukas; Rubtsov, Nikolay B

    2016-01-01

    Over the past decade, the free-living flatworm Macrostomum lignano has been successfully used in many areas of biology, including embryology, stem cells, sexual selection, bioadhesion and aging. The increased use of this powerful laboratory model, including the establishment of genomic resources and tools, makes it essential to have a detailed description of the chromosome organization of this species, previously suggested to have a karyotype with 2n = 8 and one pair of large and three pairs of small metacentric chromosomes. We performed cytogenetic analyses for chromosomes of one commonly used inbred line of M. lignano (called DV1) and uncovered unexpected chromosome number variation in the form of aneuploidies of the largest chromosomes. These results prompted us to perform karyotypic studies in individual specimens of this and other lines of M. lignano reared under laboratory conditions, as well as in freshly field-collected specimens from different natural populations. Our analyses revealed a high frequency of aneuploids and in some cases other numerical and structural chromosome abnormalities in laboratory-reared lines of M. lignano, and some cases of aneuploidy were also found in freshly field-collected specimens. Moreover, karyological analyses were performed in specimens of three further species: Macrostomum sp. 8 (a close relative of M. lignano), M. spirale and M. hystrix. Macrostomum sp. 8 showed a karyotype that was similar to that of M. lignano, with tetrasomy for its largest chromosome being the most common karyotype, while the other two species showed a simpler karyotype that is more typical of the genus Macrostomum. These findings suggest that M. lignano and Macrostomum sp. 8 can be used as new models for studying processes of partial genome duplication in genome evolution.

  18. Evidence for Karyotype Polymorphism in the Free-Living Flatworm, Macrostomum lignano, a Model Organism for Evolutionary and Developmental Biology.

    Directory of Open Access Journals (Sweden)

    Kira S Zadesenets

    Full Text Available Over the past decade, the free-living flatworm Macrostomum lignano has been successfully used in many areas of biology, including embryology, stem cells, sexual selection, bioadhesion and aging. The increased use of this powerful laboratory model, including the establishment of genomic resources and tools, makes it essential to have a detailed description of the chromosome organization of this species, previously suggested to have a karyotype with 2n = 8 and one pair of large and three pairs of small metacentric chromosomes. We performed cytogenetic analyses for chromosomes of one commonly used inbred line of M. lignano (called DV1 and uncovered unexpected chromosome number variation in the form of aneuploidies of the largest chromosomes. These results prompted us to perform karyotypic studies in individual specimens of this and other lines of M. lignano reared under laboratory conditions, as well as in freshly field-collected specimens from different natural populations. Our analyses revealed a high frequency of aneuploids and in some cases other numerical and structural chromosome abnormalities in laboratory-reared lines of M. lignano, and some cases of aneuploidy were also found in freshly field-collected specimens. Moreover, karyological analyses were performed in specimens of three further species: Macrostomum sp. 8 (a close relative of M. lignano, M. spirale and M. hystrix. Macrostomum sp. 8 showed a karyotype that was similar to that of M. lignano, with tetrasomy for its largest chromosome being the most common karyotype, while the other two species showed a simpler karyotype that is more typical of the genus Macrostomum. These findings suggest that M. lignano and Macrostomum sp. 8 can be used as new models for studying processes of partial genome duplication in genome evolution.

  19. The POEMS syndrome: Report of three cases with radiographic abnormalities

    International Nuclear Information System (INIS)

    Tanaka, O.; Ohsawa, T.

    1984-01-01

    Three cases of a unique multisystemic syndrome with polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes (the POEMS syndrome) are presented, along with a review of the literature. Clinical and radiographic features of this syndrome and etiological considerations are discussed. A variety of osteosclerotic lesions, nonspecific pleural effusion and ascites are characteristic radiographic manifestations. (orig.) [de

  20. Chromosomal abnormalities in patients with sperm disorders

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    L. Y. Pylyp

    2013-02-01

    Full Text Available Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intracytoplasmic sperm injection in particular, enable the transmission of chromosomal abnormalities to the progeny. Therefore, cytogenetic studies are important in patients with male factor infertility before assisted reproduction treatment. The purpose of the current study was to investigate the types and frequencies of chromosomal abnormalities in 724 patients with infertility and to estimate the risk of chromosomal abnormalities detection in subgroups of patients depending on the severity of spermatogenic disruption, aiming at identifying groups of patients in need of cytogenetic studies. Karyotype analysis was performed in 724 blood samples of men attending infertility clinic. Chromosomal preparation was performed by standard techniques. At least 20 GTG-banded metaphase plates with the resolution from 450 to 750 bands per haploid set were analysed in each case. When chromosomal mosaicism was suspected, this number was increased to 50. Abnormal karyotypes were observed in 48 (6.6% patients, including 67% of autosomal abnormalities and 33% of gonosomal abnormalities. Autosomal abnormalities were represented by structural rearrangements. Reciprocal translocations were the most common type of structural chromosomal abnormalities in the studied group, detected with the frequency of 2.6% (n = 19, followed by Robertsonian translocation, observed with the frequency of 1.2% (n = 9. The frequency of inversions was 0.6% (n = 4. Gonosomal abnormalities included 14 cases

  1. YKL-40 expression in abnormal invasive placenta cases.

    Science.gov (United States)

    Gözükara, İlay; Özgür, Tümay; Dolapçıoğlu, Kenan; Güngören, Arif; Karapınar, Oya Soylu

    2017-07-26

    YKL-40 is a secreted glycoprotein and has been implicated in the proliferation and differentiation of malignant cells, extracellular tissue remodelling, neovascularisation, inhibition of cancer cell apoptosis and stimulation of tumour-associated fibroblasts. The purpose of this study was to evaluate YKL-40 tissue expression in extravillous trophoblast invasion and its possible implication in placenta creta. A total of 35 placenta creta cases and six control cases were included in the study, of which eight cases were placenta accreta, 12 were increta and 15 were percreta. Histological YKL-40 staining was scored in tissue as weak (1), medium (2) and strong (3). YKL-40 immunoreactivity intensity in the percreta group was significantly higher compared to the increta and accreta groups (2.47±0.74, 1.33±0.49 and 1.37±0.52, respectively; P=0.000). YKL-40 immunoreactivity intensity was positively correlated with creta (r=0.6; P=0.000), depth of invasion (r=0.49; P=0.003) and depth of invasion to full thickness ratio (r=0.58; P=0.000). This study demonstrated that YKL-40 is strongly expressed in placenta percreta and is correlated with extravillous trophoblast invasion. These findings may be informative for understanding the pathophysiology of placenta creta.

  2. The risk of menstrual abnormalities after tubal sterilization: a case control study

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    AtashKhoii Simin

    2005-05-01

    Full Text Available Abstract Background Tubal sterilization is the method of family planning most commonly used. The existence of the post-tubal-ligation syndrome of menstrual abnormalities has been the subject of debate for decades. Methods In a cross-sectional study, 112 women with the history of Pomeroy type of tubal ligation achieved by minilaparatomy as the case group and 288 women with no previous tubal ligation as the control group were assessed for menstrual abnormalities. Results Menstrual abnormalities were not significantly different between the case and control groups (p = 0.824. The abnormal uterine bleeding frequency differences in two different age groups (30–39 and 40–45 years old were statistically significant (p = 0.0176. Conclusion Tubal sterilization does not cause menstrual irregularities.

  3. The association with Turner syndrome significantly affects the course of Hashimoto's thyroiditis in children, irrespective of karyotype.

    Science.gov (United States)

    Aversa, Tommaso; Messina, Maria Francesca; Mazzanti, Laura; Salerno, Mariacarolina; Mussa, Alessandro; Faienza, Maria Felicia; Scarano, Emanuela; De Luca, Filippo; Wasniewska, Malgorzata

    2015-12-01

    Only few studies have investigated to now whether the association with Turner syndrome (TS) may affect the course of Hashimoto's thyroiditis (HT) in children. Aim of this study was to ascertain whether the presentation and long-term course of HT in TS children may be characterized by a peculiar and atypical pattern. The clinical and biochemical findings at HT diagnosis in 90 TS children (group A) were compared with those recorded in 449 girls with HT but without TS (group B); in group A patients, thyroid function tests were re-evaluated after a median time interval of 4.9 years. At HT diagnosis median TSH levels and the rate of cases presenting with a thyroid dysfunction picture were significantly lower in group A, irrespective of karyotype abnormalities. In group A only 34.8 % of the girls who had initially presented with euthyroidism remained euthyroid even at re-evaluation, whilst 67.7 % of those who had presented with subclinical hypothyroidism became overtly hypothyroid over time; also such evolutive pattern was irrespective of karyotype abnormalities. (1) In TS girls, HT presents with a milder hormonal pattern, which often deteriorates over time; (2) these biochemical features are not necessarily linked with a specific karyotype.

  4. Craniofacial abnormalities among patients with Edwards Syndrome

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    Rafael Fabiano M. Rosa

    2013-09-01

    Full Text Available OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES. METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%. Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%, abnormalities of the ear helix/dysplastic ears (70%, prominent occiput (52%, posteriorly rotated (46% and low set ears (44%, and short palpebral fissures/blepharophimosis (46%. Other uncommon - but relevant - abnormalities included: microtia (18%, orofacial clefts (12%, preauricular tags (10%, facial palsy (4%, encephalocele (4%, absence of external auditory canal (2% and asymmetric face (2%. One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

  5. Agnathia-holoprosencephaly associated with a 46,XY,-21,+t(21q;21q) karyotype

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    Niedermeyer, K.K.; McCorquodale, M.M.; Burton, B.K. [Univ. of Illinois, Chicago, IL (United States)

    1994-09-01

    We report an unusual case of agnathia-holoprosencephaly associated with Down syndrome due to a 21/21 translocation. The patient presented prenatally at 21 wks gestation. A fetal ultrasound revealed multiple CNS anomalies including hydrocephalus, compressed cerebellum, absent septum pellucidum and possible cranial meningocele or encephalocele. High resolution ultrasound & fetal karyotype were recommended. The patient refused & elected to have a pregnancy termination. Chromosomal analysis performed on products of conception revealed a 46,XY,-21,+t(21q;21q) karyotype. Fluorescence in situ hybridization was performed and confirmed the 21/21 translocation chromosome. An autopsy revealed agnathia and multiple CNS anomalies including absence of the septum pellucidum, absence of the corpus callosum, arhinencephaly, an occiptal meningoencephalocele, dilation of the lateral ventricles, and extensive dysgenesis & heterotopias of the central cerebrum & mid-brain. Additional abnormalities included a persistent left superior vena cava, atrial & ventricular septal defects, irregular length of the fingers with absence of the middle phalanges of the right 2nd and 5th & left 5th digits and bilateral simian creases. Agnathia can be an isolated abnormality but often is associated with holoprosencephaly and/or situs inversus. The majority of familial case of agnathis-holoprosencephaly was caused by an inherited unbalanced translocation resulting in duplication of 6p and monosomy of 18p. Our patient had a translocation form of trisomy 21 but did not have a phenotype consistent with Down syndrome. Trisomy 21 has not been previously reported in other cases of agnathia-holoprosencephaly. Whether the chromosomal abnormality caused the phenotypic abnormalities or if it is a coincidental finding cannot be determined.

  6. Abnormal chromatin clumping in leucocytes of Ph positive Chronic Myeloid Leukemia cases - extending the morphological spectrum

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    Adhya Amit

    2008-10-01

    Full Text Available The syndrome of abnormal chromatin clumping is largely a morphological entity characterized by exaggerated chromatin clumping seen in the neutrophils. According to the recent World Health Organization (WHO classification, it is categorized as a variant of atypical chronic myeloid leukemia (aCML or Ph-negative CML. Most of the cases reported in literature have been negative for the Ph chromosome or the BCR-ABL gene. Till date, Ph positivity has been demonstrated in just one case. We report two more Ph-positive CML cases with abnormal chromatin clumping in neutrophils. To the best of our knowledge, this is only the second time in literature that such cases have been described. These two unusual cases go on to extend the morphological spectrum of granulocytic changes seen in Ph-positive CML.

  7. A Case-Conference Exercise to Facilitate Understanding of Paradigms in Abnormal Psychology

    Science.gov (United States)

    Lafosse, Jose M.; Zinser, Michael C.

    2002-01-01

    In this article we describe an in-class case-conference exercise designed to enhance the teaching of paradigms in abnormal psychology courses. The primary pedagogical goals are to increase awareness of how paradigms are applied in real-life settings; better distinguish between paradigms; and recognize how paradigms influence understanding of…

  8. Wernicke's encephalopathy with cortical abnormalities: clinicoradiological features: report of 3 new cases and review of the literature.

    Science.gov (United States)

    Sakurai, Keita; Sasaki, Shigeru; Hara, Masaki; Yamawaki, Takemori; Shibamoto, Yuta

    2009-01-01

    To investigate clinical and magnetic resonance imaging (MRI) features of Wernicke's encephalopathy with cortical abnormalities (WEc). We retrospectively evaluated the clinical features and MRI findings in 3 cases of WEc in comparison with those of 7 previously reported cases. Besides the classical triad of ocular abnormalities, ataxia and global confusion, muscular weakness of all extremities was frequently recognized (5 of 6 evaluable cases; 83%). During the clinical courses, 2 patients (20%) died and 1 fell into a vegetative state. The cortical abnormalities were distributed in the frontal and parietal lobes, especially around the bilateral central sulcus, in all cases. In 1 case, the cortical abnormality was irreversible, and the abnormal lesion, similar to that seen in laminar necrosis, persisted. Bilateral frontal cortical abnormalities around the central sulcus and muscular weakness of all extremities might be the characteristic features of WEc. Copyright 2009 S. Karger AG, Basel.

  9. Cavitary Cryptogenic Organizing Pneumonia and abnormalities of the Basal Ganglia Case presentation

    International Nuclear Information System (INIS)

    Prieto, Enrique; Mora, Alfonso Sergio

    2007-01-01

    Cryptogenic Organizing Pneumonia (COP) is a pulmonary disorder with a wide spectrum of radiological features. A case of a young patient of 16 years old is shown with CAT appearance of multiple cavitary nodules in both lungs that responded with a complete resolution after corticosteroid therapy. This patient also reveals abnormalities of the basal ganglia as the result of hypoxic ischemic encephalopathy associated with the acute presentation of this disorder. We justify the inclusion of COP in the differential diagnosis of multiple cavitary nodules, and it is discussed the differential diagnosis of her abnormalities of the basal ganglia

  10. Extramedullary Relapse of Acute Lymphoblastic Leukemia Presenting as Abnormal Uterine Bleeding: A Case Report.

    Science.gov (United States)

    Robillard, Diana T; Kutny, Matthew A; Chewning, Joseph H; Arbuckle, Janeen L

    2017-06-01

    Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy. Relapse of ALL occurs in 15%-20% of patients, with 2%-6% occurring exclusively in extramedullary sites. Relapse of ALL in gynecologic organs is extremely rare. We present a case of a 12-year-old girl with a history of ALL who was referred to the pediatric gynecology clinic with abnormal uterine bleeding. She was determined to have an extramedullary uterine relapse of her ALL. Abnormal uterine bleeding in the setting of childhood malignancy is a frequent reason for consultation to pediatric and adolescent gynecology services. This bleeding is commonly attributed to thrombocytopenia due to bone marrow suppressive chemotherapeutic agents. However, as shown in this report, abnormal uterine bleeding might be a manifestation of an extramedullary relapse. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  11. Abnormal systemic venous connection possibly associated with a persistent right umbilical vein; a case report

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    Smevik Bjarne

    2004-04-01

    Full Text Available Abstract Background Abnormal venous connections involving a persistent right umbilical vein are rare. In a minority of cases the liver is entirely bypassed and the condition is associated with multiple congenital malformations. Case presentation The described case illustrates a systemic venous drainage that was severely abnormal in a newborn girl with a truncus arteriosus type II congenital heart defect. Injection of contrast medium through the umbilical vein catheter revealed a very peculiar venous connection that passed anterio-laterally through the right hemithorax before crossing in an oblique fashion towards the superior vena cava. Conclusions This venous drainage may be the result of a persistent right umbilical vein connecting with the superior vena cava.

  12. Evolution of Karyotypes in Chameleons

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    Michail Rovatsos

    2017-12-01

    Full Text Available The reconstruction of the evolutionary dynamics of karyotypes and sex determining systems in squamate reptiles is precluded by the lack of data in many groups including most chameleons (Squamata: Acrodonta: Chamaeleonidae. We performed cytogenetic analysis in 16 species of chameleons from 8 genera covering the phylogenetic diversity of the family and also phylogenetic reconstruction of karyotype evolution in this group. In comparison to other squamates, chameleons demonstrate rather variable karyotypes, differing in chromosome number, morphology and presence of interstitial telomeric signal (ITS. On the other hand, the location of rDNA is quite conserved among chameleon species. Phylogenetic analysis combining our new results and previously published data tentatively suggests that the ancestral chromosome number for chameleons is 2n = 36, which is the same as assumed for other lineages of the clade Iguania, i.e., agamids and iguanas. In general, we observed a tendency for the reduction of chromosome number during the evolution of chameleons, however, in Rieppeleon brevicaudatus, we uncovered a chromosome number of 2n = 62, very unusual among squamates, originating from a number of chromosome splits. Despite the presence of the highly differentiated ZZ/ZW sex chromosomes in the genus Furcifer, we did not detect any unequivocal sexual differences in the karyotypes of any other studied species of chameleons tested using differential staining and comparative genomic hybridization, suggesting that sex chromosomes in most chameleons are only poorly differentiated.

  13. Evolutionary dynamics of mammalian karyotypes

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    Carlo Alberto Redi

    2012-12-01

    Full Text Available This special volume of Cytogenetic and Genome Research (edited by Roscoe Stanyon, University of Florence and Alexander Graphodatsky, Siberian division of the Russian Academy of Sciences is dedicated to the fascinating long search of the forces behind the evolutionary dynamics of mammalian karyotypes, revealed after the hypotonic miracle of the 1950s....

  14. Evolution of Karyotypes in Chameleons

    Czech Academy of Sciences Publication Activity Database

    Rovatsos, M.; Altmanová, M.; Johnson Pokorná, Martina; Velenský, P.; Baca, A. S.; Kratochvíl, L.

    2017-01-01

    Roč. 8, č. 12 (2017), č. článku 382. ISSN 2073-4425 Institutional support: RVO:67985904 Keywords : karyotype evolution * ITS * rDNA Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Genetics and heredity (medical genetics to be 3) Impact factor: 3.600, year: 2016

  15. Genetic abnormalities in chronic lymphocytic leukemia and their clinical and prognostic implications.

    Science.gov (United States)

    Dierlamm, J; Michaux, L; Criel, A; Wlodarska, I; Van den Berghe, H; Hossfeld, D K

    1997-03-01

    Clonal chromosome abnormalities can be detected in approximately 50% of patients with chronic lymphocytic leukemia (CLL). The most common changes are trisomy 12, followed by structural abnormalities of 13q, 11q, 6q, and 14q. By fluorescence in situ hybridization (FISH), these aberrations can be demonstrated even in cases with insufficient mitotic yield or a normal karyotype. The biologic consequences of trisomy 12 are unknown, but a gene dosage effect is suspected and studies on partial trisomy 12 indicate that the region 12q13 to 12q22 might be of particular pathogenetic importance. Trisomy 12 is strongly associated with atypical lymphocyte morphology and seems to be a secondary event in leukemogenesis, as shown by combined immunophenotyping and interphase FISH. Structural abnormalities of 13q frequently involve hetero- and homozygous deletions of a region in 13q14, distal to the retinoblastoma gene, which may be the site of a tumor suppressor gene. In contrast to a normal karyotype or structural changes of 13q, complex karyotypic abnormalities, high percentage of abnormal metaphases, trisomy 12 and structural changes involving the P53 tumor suppressor gene on 17p13 are adverse prognostic indicators. Cytogenetic and molecular findings provide important diagnostic, clinical, and prognostic information which can contribute to treatment decisions and follow-up of CLL patients.

  16. Y-chromosome loss as the sole karyotypic anomaly with 3'RARalpha submicroscopic deletion in a case of M3r subtype of acute promyelocytic leukemia.

    Science.gov (United States)

    Han, Yongsheng; Xue, Yongquan; Zhang, Jun; Pan, Jinlan; Wu, Yafang; Bai, Shuxiao

    2009-10-01

    Acute promyelocytic leukemia (APL) is characterized by the presence of a chromosomal rearrangement involving retinoic acid receptor alpha (RARalpha) gene generating the X-RARalpha fusion. We describe here a unique RARalpha gene rearrangement in a patient with M3r subtype of APL. Conventional cytogenetic analysis revealed Y-chromosome loss as the sole karyotypic anomaly. No X-RARalpha fusion was detected by fluorescence in situ hybridization (FISH) using PML/RARalpha dual-color dual-fusion translocation probe set, or RARalpha dual-color break apart rearrangement probe or reverse-transcription polymerase chain reaction (RT-PCR). However, FISH using RARalpha dual-color break apart rearrangement probe showed a deletion of the entire 3'-end of one allele of RARalpha gene. To our knowledge, this is the first documented APL with 3'RARalpha submicroscopic deletion which is not associated with X-RARalpha fusion. The molecular consequences of this anomaly remain to be elucidated.

  17. Clinical case of acute myeloblastic leukemia with t(8;21)(q22;q22) in a patient with Klinefelter’s syndrome

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    Vanya Slavcheva; T. Lukanov; G. Balatsenko; S. Angelova; А. Antonov; L. Bogdanov; N. Tsvetkov

    2010-01-01

    Klinefelter’s syndrome is characterized by abnormal karyotype 47, XXY and a phenotype associated with hypogonadism and gynecomastia. Often the disease can be diagnosed accidentally, when carrying out cytogenetic analysis in cases of a malignant blood disease. We present the clinical case of a patient diagnosed with acute myelomonoblastic leukemia- M4 Eo (AML- M4), where by means of classic cytogenetics a karyotype was found corre-sponding to Klinefelter’s syndrome. Three induction courses of ...

  18. Partial trisomy 9p derivatived from a maternal reciprocal translocation 9;15. Case reports.

    OpenAIRE

    Torres, Elodia; Rodríguez, Stella; Monjagata, Norma; Fernández, Silvia; de Herrreros, María Beatriz NP; Meza, Graciela

    2015-01-01

    Objectives: to highlight the importance of performing karyotype in children with congenital malformations in order to have a confirmatory diagnosis, in parents to exclude the possibility of being carriers of chromosomal abnormalities and perform the genetic counseling. Clinical cases description: Female patient with 3 years and 2 months old to whom karyotype was performed by global neurodevelopmental delay and microcephaly, and her mother with 34 years old without any clinical manifestations,...

  19. Abnormal behaviours during pramipexole treatment for Cotard's syndrome: a case report.

    Science.gov (United States)

    Maruo, Joji; Haraguchi, Yoshinori; Tateishi, Hiroshi; Noguchi, Tomoyuki; Mizoguchi, Yoshito; Kato, Takahiro A; Kawashima, Toshiro; Monji, Akira

    2016-07-01

    Cotard's syndrome is a relatively rare condition that involves a delusion of negation in which an individual believes he or she has lost his or her soul, is dead, or is without functional body systems. This syndrome is observed in various neuropsychiatric disorders but most commonly in mood disorders. Pramipexole has often been used in the adjunctive treatment of both bipolar and unipolar depression, and it is known to cause rare but serious adverse effects such as compulsive behaviours in the treatment of Parkinson's disease. Here we report a case of Cotard's syndrome in treatment-resistant major depression associated with abnormal behaviours that might be caused by pramipexole. In the present case, the patient's abnormal behaviours gradually disappeared about 2 months after the discontinuation of pramipexole. The hypoperfusion in the bilateral parieto-occipital lobe found on single-photon emission computed tomography suggests the presence of Lewy body disease pathology. Nonetheless, the patient's abnormal behaviours disappeared after the discontinuation of pramipexole, indicating that they are mainly attributable to pramipexole treatment. However, the possible existence of Lewy body pathology could facilitate the emergence of abnormal behaviours after treatment with pramipexole. The patient's abnormal behaviours, such as eating other patients' food and taking her medicine before the scheduled time, might differ from typical compulsive behaviours induced by pramipexole (such as pathological gambling and hypersexuality), but they could be regarded as disinhibition. Therefore, we should follow up on the clinical course of this case carefully through neuroimaging investigation and neurocognitive assessment. © 2015 The Authors. Psychogeriatrics © 2015 Japanese Psychogeriatric Society.

  20. Blastoid Variant Mantle Cell Lymphoma with Complex Karyotype Including 11q Duplication

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    Özge Özer

    2014-09-01

    Full Text Available We describe a case of blastoid mantle cell lymphoma with a complex karyotype. The blastoid variant is a rare type of non-Hodgkin lymphoma exhibiting an aggressive clinical course. Mantle cell lymphoma is a distinct entity of mature B-cell neoplasms genetically characterized by the presence of t(11;14. In the present case, conventional analysis revealed structural abnormalities of chromosomes 2, 4, 6, 10, 13, and 19, along with 3 additional marker chromosomes. The derivative 1 chromosome determined in the case was a result of t(1p;11q. Our interesting finding was the presence of a different translocation between 11q and chromosome 1 in addition to t(11;14. Thus, the resulting 11q duplication was believed to additionally increase the enhanced expression of cyclin D1 gene, which is responsible in the pathogenesis of the disease. Fluorescence in situ hybridization method by the t(11;14 probe revealed clonal numerical abnormalities of chromosomes 11 and 14 in some cells. The detection of multiple abnormalities explains the bad prognosis in the present case. On the basis of our findings, we can easily conclude that results of cytogenetic analyses of similar mantle cell lymphoma patients would provide clues about new responsible gene regions and disease prognosis. In conclusion, it has been suggested that the presence of multiple chromosomal aberrations in addition to the specific t(11;14 may have a negative impact on clinical course and survival rate.

  1. Karyotype in Pediatric Acute Lymphoblastic Leukemia: Impact On Clinical Presentation and Duration of First Remission

    International Nuclear Information System (INIS)

    Khairy, A.M.D.; EL-SISSY, M.D.

    2003-01-01

    In this study we are aiming at investigating the correlation between karyotype and the clinico pathologic features of pediatric acute lymphoblastic leukemia, duration of first remission and outcome of patients. Material and Methods: A total of 40 pediatric patients with the diagnosis of acute ]lymphoblastic leukemia (ALL) were included in this study. The patients were treated according to ALL P.NCI III/98 protocol used at the Pediatric Oncology Unit, National Cancer Institute, Cairo University. Analyzing the patients with respect to their chromosomal pattern; the majority of patients (17/40, 42.5%) showed a pseudo diploid karyotype. Their mean age was 10.2±4.8 years, M/F ratio 2.4: I. Massive hepatosplenomegaly (HSM) was encountered in 64.7%. The mean total leucocyte count (TLC) was 66.53±5.2 cells per μl. Their mean first complete remission (CR]) was 11.05±2.3 months, EFS was 40% at 12 months and 17.78% at 24 months. Patients with normal karyotype came next, representing ]3/40 (32.5%). Their mean age was 8.4±1.8 years, M/F 0.8: I. Massive HSM was found in 62.5%. The mean TLC was 78.74±3.8 cells per μl. Their mean CR 1 was I I.62±1.2 months, EFS was 41.67% at 12 months and 33.33% at 24 months. The third group represented patients with hyper diploidy (8/40; 20%). Their mean age was 8. 8±3. I years, M/F 7: I. Massive HSM was found in 50%. The mean TLC was 45.16±3.1 cells per μl], their mean CR I was 18.] 0±3.4 months, EFS was 75% at 12 months and 62.5% at 24 months. The least group showed a hypo diploid pattern (5/40; 12.5%). Their mean age was] 3±2.6 years, all were males. Massive HSM was encountered in 100%. The mean TLC was 20.00±2.9 cells per Ill. Their mean CRI was 10±2.8 months. Egyptian patients with childhood ALL who have hyper diploid karyotype, specially those having >50 chromosomes carry a better prognosis than patients with other chromosomal abnormalities. Pseudo diploid karyotype is the most frequent among Egyptian ALL cases and this could

  2. Frequencies and distributions of sex chromosome abnormalities in females with the Turner phenotype: a long-term retrospective study in the southern region of Turkey

    Science.gov (United States)

    Tanrıverdi, Nilgün; Demirhan, Osman; Süleymanova, Dilara; Pazarbaşı, Ayfer

    2017-11-13

    Background/aim: The genetic background of Turner syndrome (TS) is highly variable. The correlation between genotype and phenotype is not yet well understood. The aim of this study was to describe the frequencies and distributions of Turner karyotypes and to discuss the phenotype/genotype relation in a very large group of individuals with TS. Materials and methods: The karyotype results of 248 female participants were evaluated retrospectively.Results: Of 248 females with the Turner phenotype, 14.5% had normal karyotypes and 85.5% had Turner karyotypes. About 72.2% of the abnormalities were numerical aberrations and 27.8% were structural aberrations. The most frequent karyotype was monosomy X, which was found in 135 females (63.7%), followed by 44 mosaics (21%), 40 isochromosomes of the long and short arms of chromosome X (19.1%), and 17 deletions of the short and long arms of chromosome X (8.0%). One case of Robertsonian translocation and one case of mosaic TS with marker chromosome were detected. Conclusion: This study shows the frequency and distribution of karyotypes in females with TS. There is great value to be gleaned from studies of females with TS in furthering our understanding of the atypical clinical features associated with TS. Studies involving genetic analyses will be necessary to examine gene expression profiles in girls with TS and identify potential candidate genes underlying the atypical clinical features associated with TS.

  3. Complex karyotype in mantle cell lymphoma is a strong prognostic factor for the time to treatment and overall survival, independent of the MCL international prognostic index.

    Science.gov (United States)

    Sarkozy, Clémentine; Terré, Christine; Jardin, Fabrice; Radford, Isabelle; Roche-Lestienne, Catherine; Penther, Dominique; Bastard, Christian; Rigaudeau, Sophie; Pilorge, Sylvain; Morschhauser, Franck; Bouscary, Didier; Delarue, Richard; Farhat, Hassan; Rousselot, Philippe; Hermine, Olivier; Tilly, Hervé; Chevret, Sylvie; Castaigne, Sylvie

    2014-01-01

    Mantle cell lymphoma (MCL) is usually an aggressive disease. However, a few patients do have an "indolent" evolution (iMCL) defined by a long survival time without intensive therapy. Many studies highlight the prognostic role of additional genetic abnormalities, but these abnormalities are not routinely tested for and do not yet influence the treatment decision. We aimed to evaluate the prognostic impact of these additional abnormalities detected by conventional cytogenetic testing, as well as their relationships with the clinical characteristics and their value in identifying iMCL. All consecutive MCL cases diagnosed between 1995 and 2011 at four institutions were retrospectively selected on the basis of an informative karyotype with a t(11;14) translocation at the time of diagnosis. A total of 125 patients were included and followed for an actual median time of 35 months. The median overall survival (OS) and survival without treatment (TFS) were 73.7 and 1.3 months, respectively. In multivariable Cox models, a high mantle cell lymphoma international prognostic index score, a complex karyotype, and blastoid morphology were independently associated with a shortened OS. Spleen enlargement, nodal presentation, extra-hematological involvement, and complex karyotypes were associated with shorter TFS. A score based on these factors allowed for the identification of "indolent" patients (median TFS 107 months) from other patients (median TFS: 1 month). In conclusion, in this multicentric cohort of MCL patients, a complex karyotype was associated with a shorter survival time and allowed for the identification of iMCL at the time of diagnosis. Copyright © 2013 Wiley Periodicals, Inc.

  4. Molecular and cytogenetic abnormalities in acute myeloid leukemia: review and case studies

    OpenAIRE

    Velloso,Elvira Deolinda Rodrigues Pereira; Motta,Carlos Henrique Ares Silveira da; Furtado,Juliana Braga; Bacal,Nydia Strachman; Silveira,Paulo Augusto Achucarro; Moyses,Cynthia Bachir; Sitnik,Roberta; Pinho,João Renato Rebello

    2011-01-01

    Objective: To study the frequency of mutations that may lead to a good or bad prognosis, as well as their relation with the karyotype and immunophenotype in patients with acute myeloid leukemia. Methods: Thirty samples of patients with acute myeloid leukemia were studied, in which FLT3-ITD, FLT3-TKD and NPM1 mutations were investigated. All samples were submitted to immunophenotyping and 25 to karyotyping. Results: An occurrence of 33.3% NPM1 mutation and an equal number of FLT3-ITD mutatio...

  5. Recurrent chromosome 6 abnormalities in malignant mesothelioma.

    Science.gov (United States)

    Ribotta, M; Roseo, F; Salvio, M; Castagneto, B; Carbone, M; Procopio, A; Giordano, A; Mutti, L

    1998-04-01

    The long latency period between asbestos exposure and the onset of malignant mesothelioma (MM) suggests that a multistep tumorigenesis process occurs whilst the capability of asbestos fibres to interfere directly with chromosomes focuses on the critical role of the chromosomal abnormalities in this neoplasm. The aim of our study was to identify any recurrent chromosomal changes in ten primary MM cell cultures derived from pleural effusions of patients with MM from the same geographic area and environmental and/or occupational exposure to asbestos fibers. Cytogenetic analysis was performed in accordance with International System for Human Cytogenetic Nomenclature. Our results confirmed a great number of cytogenetic abnormalities in MM cells. Recurrent loss of the long arms of chromosome 6 (6q-) was the most frequent abnormality detected (four epithelial and two mixed subtypes) while, on the whole, abnormalities of chromosome 6 were found in nine out of ten cases whereas chromosome 6 was normal only in the case with fibromatous subtype. Monosomy 13 and 17 was found in five cases, monosomy 14 in four cases and 22 in three cases. Since deletion of 6q- was detected even in relatively undisturbed karyotype, we hypothesize a multistep carcinogenic process in which deletion of 6q- is an early event in the development and progression of malignant mesothelioma.

  6. Pregnancy and delivery outcomes following a pathological second trimester triple test screening result and a normal karyotype.

    Science.gov (United States)

    Weintraub, Adi Y; Weiss, Inbal; Friger, Michael; Hershkovitz, Reli

    2012-12-01

    To investigate whether obstetrical complications are increased in pregnancies with a normal karyotype and an abnormal triple test (TT) (≥1:380 or more) where all analytes were within the normal range. A retrospective cohort study of women who underwent a TT and delivered in a tertiary medical center, was conducted. Patients were divided into a study group (pregnancies with abnormal TT) and a control group (normal TT). In both groups, the analyte concentrations were within the normal range and the karyotype was normal. Demographic and clinical characteristics, antenatal factors, gestational complications and perinatal outcomes were compared between the groups. An abnormal TT result in the presence of normal analytes and a normal karyotype, had no impact on obstetrical complications. A direct association between elevated values of hCG within the normal range (0-2.0 MoM) and pathological TT was noticed (OR = 2.6, p karyotype, had no influence on rate of obstetrical complications.

  7. [HRCT imaging characterized of congenital abnormalities of the inner ear in 45 cases].

    Science.gov (United States)

    Wang, Jinling; Meng, Meijuan; Huan, Yi; Zhang, Jinsong

    2003-10-01

    To explore the high resolution CT (HRCT) image characterized of congenital abnormalities of the inner ear(CAIE), and its value in the diagnosis and treatment of CAIE. The clinic data and axial HRCT scans of CAIE in 45 cases were analyzed. In 45 CAIE patients, most of them were frequently associated with slowly progressive sensorineural hearing loss in childhood, 15 ears were fluctuating hearing loss. Seventeen ears were unilateral semicircular canal paralysis. HRCT showed that Michel type 3 cases(4 ears), Mondini type 25 cases(39 ears). Large vestibular aqueduct malformation not associated with anomalies of inner ears 13 cases(23 ears), anomalies of internal auditory canal 4 cases (5 ears). Thirteen ears were associated with outer and middle ear malformation. HRCT image has the important value in the diagnosis and treatment of CAIE, especially for the excerpt of indication of cochlear implantation.

  8. Karyotype analysis of Neodiplostomum seoulense

    Science.gov (United States)

    Park, Gab-Man; Lee, Soo-Ung; Park, Hyun-Young

    1998-01-01

    A karyotype analysis of the chromosome of Neodiplostomum seoulense, one of causative agents of human intestinal trematodiasis, was done from the gonad tissue by the squashing method. The chromosome number was n = 10 and 2n = 20. Chromosome length was 1.30-4.0 µm. Chromosome pairs in the complement consisted of two pairs of metacentric, five pairs of submetacentrics/subtelocentric and three pairs of telocentric chromosomes. These data were comparable with those of other intestinal trematodes. PMID:9868894

  9. Karyotype analysis with amniotic fluid in 12365 pregnant women with indications for genetic amniocentesis and strategies of prenatal diagnosis.

    Science.gov (United States)

    Xiao, H; Yang, Y L; Zhang, C Y; Liao, E J; Zhao, H R; Liao, S X

    2016-01-01

    We explored the strategies of prenatal diagnosis by foetal karyotype analysis in pregnant women with indications for genetic amniocentesis. Karyotype analysis of amniotic fluid was performed on 12365 pregnant women with indications for genetic amniocentesis. The detection rates and distributions of abnormal karyotypes were observed in a variety of indications for genetic amniocentesis. The detection rates of abnormal karyotype were 57.4% in either a mother or father with chromosomal abnormality, 8.5% in the pregnant women with pathological ultrasound finding (PUF), 2.79% in the pregnant women with advanced age (35 years and over) and 2.23% in the women with abnormal maternal serum screening (MSS) tests. Foetal abnormal karyotype was found in 86 pregnant women with PUF; of the 86 pregnant women, 42 had trisomy 13, 18 or 21. Of the 12365 pregnant women, foetal abnormal karyotype was found in 428 (3.46%); of the 428 foetuses, only 154 had trisomy 13, 18 or 21. In the pregnant women with abnormal MSS, 111 foetuses had abnormal karyotype, but only 36 foetuses had trisomy 13, 18 or 21. We conclude that (1) ultrasound is an important approach to prevent the birth of foetuses with chromosomal disease. (2) Non-invasive prenatal DNA detection cannot completely replace invasive prenatal diagnosis and MSS. (3) The strategies of prenatal diagnosis: Genetic amniocentesis is strongly recommended for the pregnant women with indications for genetic amniocentesis. For pregnant women who refuse invasive prenatal diagnosis, non-invasive prenatal DNA detection is first performed. If the results of non-invasive prenatal DNA detection are negative, the pregnant women are followed up by ultrasound; if the results of non-invasive prenatal DNA detection are positive, the pregnant women should undergo invasive prenatal diagnosis.

  10. Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases

    International Nuclear Information System (INIS)

    Tilea, Bogdana; Garel, Catherine; Elmaleh-Berges, Monique; Sebag, Guy; Menez, Francoise; Delezoide, Anne-Lise; Vuillard, Edith

    2006-01-01

    We report two cases of fetal inner ear abnormalities diagnosed by MRI. Cerebral MRI was performed on two fetuses, at 32 and 30 weeks gestation, following US that demonstrated multiple malformations suggestive of CHARGE syndrome in one fetus and ventriculomegaly and poor visibility of the posterior fossa in the other. MRI revealed vestibular hypoplasia and agenesis of the semicircular canals in one fetus and cystic cochleas, partial vermian agenesis and an occipital meningocele in the second fetus. Both pregnancies were terminated and there was good correlation between fetal MRI, ex utero CT and fetopathological findings. The inner ears should be carefully examined when performing fetal cerebral MRI because abnormalities of the inner ear may be associated with cerebral anomalies. (orig.)

  11. Contribution of fetal MRI to the diagnosis of inner ear abnormalities: report of two cases

    Energy Technology Data Exchange (ETDEWEB)

    Tilea, Bogdana; Garel, Catherine; Elmaleh-Berges, Monique; Sebag, Guy [Hopital Robert Debre, Department of Paediatric Imaging, Paris (France); Menez, Francoise; Delezoide, Anne-Lise [Hopital Robert Debre, Department of Developmental Biology, Paris (France); Vuillard, Edith [Hopital Robert Debre, Department of Obstetrics and Gynaecology, Paris (France)

    2006-02-01

    We report two cases of fetal inner ear abnormalities diagnosed by MRI. Cerebral MRI was performed on two fetuses, at 32 and 30 weeks gestation, following US that demonstrated multiple malformations suggestive of CHARGE syndrome in one fetus and ventriculomegaly and poor visibility of the posterior fossa in the other. MRI revealed vestibular hypoplasia and agenesis of the semicircular canals in one fetus and cystic cochleas, partial vermian agenesis and an occipital meningocele in the second fetus. Both pregnancies were terminated and there was good correlation between fetal MRI, ex utero CT and fetopathological findings. The inner ears should be carefully examined when performing fetal cerebral MRI because abnormalities of the inner ear may be associated with cerebral anomalies. (orig.)

  12. [Severe lactic acidosis requiring continuos haemodiafiltration in a young patient with unrecognized metabolic abnormality. Case report].

    Science.gov (United States)

    Vigotti, Federica N; Daidola, Germana; Marciello, Antonio; Berruto, Francesco; Rizzuto, Antonietta; Reina, Ernesto; Perosa, Paolo M; Saltarelli, Marco

    2018-02-01

    Lactic acidosis (LA) is the most common form of metabolic acidosis, defined by lactate values greater than 5 mmol/L and pHimprovement was obtained with stabilization of acid-base balance. A diagnosis of fructose-1,6-diphosphatase deficiency was made. It is an autosomical recessive gluconeogenesis abnormality, with recurrent episodes of hypoglicemia and lactic acidosis after fasting, potentially lethal. The therapy is based on avoiding prolonged fasts, glucose infusion, and a specific diet, rich in glucose without fructose intake. The presence of not-otherwise-explained lactic acidosis in young patients has to place the suspect of an underlying and unknown metabolic derangement; in these cases, the involvement of the nephrologist appears to be pivotal for the differential diagnosis of the abnormalities of the acid-base balance, and for setting the best treatment. Copyright by Società Italiana di Nefrologia SIN, Rome, Italy.

  13. Upper airway alterations/abnormalities in a case series of obstructive sleep apnea patients identified with cone-beam CT

    Energy Technology Data Exchange (ETDEWEB)

    Shigeta, Y.; Shintaku, W.H.; Clark, G.T. [Orofacial Pain/Oral Medicine Center, Div. of Diagnostic Sciences, School of Dentistry, Univ. of Southern California, Los Angeles, CA (United States); Enciso, R. [Div. of Craniofacial Sciences and Therapeutics, School of Dentistry, Univ. of Southern California, Los Angeles, CA (United States); Ogawa, T. [Dept. of Fixed Prosthodontic Dentistry, Tsurumi Univ., School of Dental Medicine, Tsurumi (Japan)

    2007-06-15

    There are many factors that influence the configuration of the upper airway and may contribute to the development of obstructive sleep apnea (OSA). This paper presents a series of 12 consecutive OSA cases where various upper airway alteration/abnormalities were identified using 3D anatomic reconstructions generated from cone-beam CT (CBCT) images. Some cases exhibited more than one type of abnormality and below we describe each of the six types identified with CBCT in this case series. (orig.)

  14. Atresia of the appendix vermiformis: A rare case of developmental abnormality

    Science.gov (United States)

    Yaylak, Faik; Algin, Mustafa Cem; Gungor, Yesim; Korkmaz, Mehmet

    2013-01-01

    Acute appendicitis, which requires immediate surgical intervention, is an important diagnosis in patients with acute abdomen. However, developmental abnormalities may interfere with the preoperative diagnosis and surgical treatment in some cases. Agenesis and atresia of the cecal vermiform appendix is an extremely rare clinical diagnosis. In addition, preoperative diagnosis may be difficult in some cases. Thus, diagnosis of the congenital absence of the vermiform appendix requires a thorough exploration of the retrocecal and ileocecal regions. A 59-year-old male was admitted from the emergency services with right lower abdominal pain. A celiotomy was performed with the suspicion of acute appendicitis. However, an atresia of the vermiform appendix was observed. The patient’s appendix was thus removed. Pathological examination confirmed suppurative appendicitis. This case underlines the importance of the clinical entity for surgeons who may deal with a similar case. PMID:23326173

  15. Continuous Glucose Monitoring in Patients with Abnormal Glucose Tolerance during Pregnancy: A Case Series

    Directory of Open Access Journals (Sweden)

    Mie Tonoike

    2016-01-01

    Full Text Available Abnormal glucose tolerance during pregnancy is associated with perinatal complications. We used continuous glucose monitoring (CGM in pregnant women with glucose intolerance to achieve better glycemic control and to evaluate the maternal glucose fluctuations. We also used CGM in women without glucose intolerance (the control cases. Furthermore, the standard deviation (SD and mean amplitude of glycemic excursions (MAGE were calculated for each case. For the control cases, the glucose levels were tightly controlled within a very narrow range; however, the SD and MAGE values in pregnant women with glucose intolerance were relativity high, suggesting postprandial hyperglycemia. Our results demonstrate that pregnant women with glucose intolerance exhibited greater glucose fluctuations compared with the control cases. The use of CGM may help to improve our understanding of glycemic patterns and may have beneficial effects on perinatal glycemic control, such as the detection of postprandial hyperglycemia in pregnant women.

  16. Atresia of the appendix vermiformis: a rare case of developmental abnormality.

    Science.gov (United States)

    Yaylak, Faik; Algin, Mustafa Cem; Gungor, Yesim; Korkmaz, Mehmet

    2013-01-07

    Acute appendicitis, which requires immediate surgical intervention, is an important diagnosis in patients with acute abdomen. However, developmental abnormalities may interfere with the preoperative diagnosis and surgical treatment in some cases. Agenesis and atresia of the cecal vermiform appendix is an extremely rare clinical diagnosis. In addition, preoperative diagnosis may be difficult in some cases. Thus, diagnosis of the congenital absence of the vermiform appendix requires a thorough exploration of the retrocecal and ileocecal regions. A 59-year-old male was admitted from the emergency services with right lower abdominal pain. A celiotomy was performed with the suspicion of acute appendicitis. However, an atresia of the vermiform appendix was observed. The patient's appendix was thus removed. Pathological examination confirmed suppurative appendicitis. This case underlines the importance of the clinical entity for surgeons who may deal with a similar case.

  17. On distributed parameter control systems in the abnormal case and in the case of nonoperator equality constraints

    Directory of Open Access Journals (Sweden)

    Urszula Ledzewicz

    1993-01-01

    Full Text Available In this paper, a general distributed parameter control problem in Banach spaces with integral cost functional and with given initial and terminal data is considered. An extension of the Dubovitskii-Milyutin method to the case of nonregular operator equality constraints, based on Avakov's generalization of the Lusternik theorem, is presented. This result is applied to obtain an extension of the Extremum Principle for the case of abnormal optimal control problems. Then a version of this problem with nonoperator equality constraints is discussed and the Extremum Principle for this problem is presented.

  18. Reversible MRI abnormalities in mesial temporal lobe epilepsy: a case report

    Directory of Open Access Journals (Sweden)

    Chiara Pizzanelli

    2013-12-01

    Full Text Available The question regarding  the existence of abnormalities in the neuroimaging exams immediately after status epilecticus or epileptic seizures, but showing complete reversibility after a proper antiepileptic therapy, has long been debated. The first reports attempting to demonstrate their existence date back to the 1980s, and relied upon computed tomography as the imaging method of choice. After the introduction of MRI, a more appropriate characterization of these abnormalities was obtained along with the description of their most frequent features: (a T2 signal hyperintensity in the white matter and, occasionally, (b reduced apparent diffusion coefficient (ADC and increased signal in DWI sequences.The MRI abnormalities induced by epileptic activity pose a broad differential diagnosis including infections, inflammatory autoimmune encephalopathies, neoplasms. It remains a diagnosis of exclusion and requires proper diagnostic iter in order to reduce the risk of misdiagnosis and unnecessary intervention.In this case report, a thorough presentation will be outlined about MRI alterations in the left mesial temporal lobe, which resulted completely reversible after a proper antiepileptic therapy.

  19. A case report of spinal dural arteriovenous fistula: origins, determinants, and consequences of abnormal vascular malformations

    Directory of Open Access Journals (Sweden)

    Sherry M. Zakhary, DO

    2017-06-01

    Full Text Available A spinal dural arteriovenous fistula is an abnormally layered connection between radicular arteries and venous plexus of the spinal cord. This vascular condition is relatively rare with an incidence of 5–10 cases per million in the general population. Diagnosis of spinal dural arteriovenous fistula is differentiated by contrast-enhanced magnetic resonance angiography or structural magnetic resonance imaging, but a definitive diagnosis requires spinal angiography methods. Here, we report a case of a 67-year-old female with a spinal dural arteriovenous fistula, provide a pertinent clinical history to the case nosology, and discuss the biology of adhesive proteins, chemotactic molecules, and transcription factors that modify the behavior of the vasculature to possibly cause sensorimotor deficits.

  20. A rare case of Silver–Russell syndrome associated with growth hormone deficiency and urogenital abnormalities

    Science.gov (United States)

    Prasad, Namburi Rajendra; Reddy, Ponnala Amaresh; Karthik, T. S.; Chakravarthy, Mithun; Ahmed, Faizal

    2012-01-01

    Introduction: Silver–Russell syndrome (SRS) is a very rare genetic disorder. This is usually characterized by asymmetry in the size of the two halves or other parts of the body. Background: We are presenting a case of SRS with growth hormone (GH) deficiency and urogenital abnormalities. Case Report: A 15-year-old boy a product of non-consanguineous marriage brought with a history of short stature and poor development of secondary sexual characters. There were no adverse perinatal events, but weighed 1500 g (hemihypertrophy on the right side. His height was 119 cm (<3rdcentile) and weight was 18 kg which were low (<3rdcentile) as per his age. He was biochemically euthyroid and GH stimulation testing with clonidine (0.15 mg/m2) showed low GH levels at 30′, 60′, and 90′ were 1.7, 1.6, and 1.1ng/ml, respectively. On micturatingcystourethrogram, grade V complex was noted on the right side. Dimercaptosuccinic acid (DMSA) showed normal functioning kidneys. He was started on recombinant GH with a height velocity of 10 cm/year. Conclusion: Urogenital abnormalities are rare but well described anomalies associated with SRS, and all cases have to be screened for them. GH deficiency is not uncommon in SRS, and GH treatment proves to be beneficial. PMID:23565409

  1. Clinical and cytogenetic results of a series of amniocentesis cases from Northeast China: a report of 2500 cases.

    Science.gov (United States)

    An, N; Li, L L; Wang, R X; Li, L L; Yue, J M; Liu, R Z

    2015-12-02

    The aims of this study were to demonstrate the clinical and cytogenetic results of amniocentesis (AS) cases in Northeast China, to compare the incidence of different kinds of chromosomal abnormalities, and to study the association between the detection rate of chromosomal abnormalities and different indications for prenatal diagnosis. Cytogenetic analysis was performed on long-term tissue cultures of 2500 second-trimester amniotic fluid samples. The most common indication for genetic AS was abnormal maternal serum-screening test (69.56%), followed by advanced maternal age (15.04%). Chromosomal abnormality was detected in 206 (8.24%) of the 2500 samples. The detection rate of abnormal karyotypes was 62.5% in the group in which one member of the couple was a carrier of a chromosome abnormality; in the group having a positive result from noninvasive prenatal testing, the frequency was 50%. To determine the origin of fetal chromosome abnormal karyotype, 45 fetuses were analyzed. Of these, 20 were found to be de novo abnormalities and 25 were familial. The frequency and proportion of abnormal karyotypes varied substantially across different maternal AS indications. Knowing the origin and type of chromosomal abnormality would help determine termination or continuation of the pregnancy.

  2. A rare case of abnormal uterine bleeding caused by cavernous hemangioma: a case report

    OpenAIRE

    Benjamin, Mridula A; Yaakub, Hjh Roselina; Telesinghe, PU; Kafeel, Gazala

    2010-01-01

    Abstract Introduction Cavernous hemangiomas of the uterus are extremely rare, benign lesions. A survey of the current literature identified fewer than 50 cases of hemangioma of the uterus. Case presentation We report a case of cavernous hemangioma of the uterus in a 27-year-old Malay, para 1 woman who presented at our hospital with torrential vaginal bleeding having been transferred by land ambulance from a district hospital 30 minutes away. 11 weeks previously she had an urgent cesarean sect...

  3. Analysis of sperm karyotypes in a patient treated with griseofulvin.

    Science.gov (United States)

    Ko, Evelyn M; Lowry, R Brian; Martin, Renée H

    2007-01-01

    Griseofulvin is known to interfere with chromosome segregation by binding to microtubule-associated proteins. Studies in mouse germ cells have demonstrated that griseofulvin can induce aneuploidy (numerical chromosome abnormalities) at therapeutic concentrations. The aim of this study was to determine if chronic griseofulvin treatment led to an increased frequency of sperm chromosome abnormalities in one male subject. We analyzed 290 full sperm karyotypes using the human sperm-hamster oocyte fusion system. The frequency of X- and Y-bearing sperm was equal. There was no increase in the frequency of numerical (1.7%) or structural (9.3%) abnormalities in the subject compared to unexposed controls. Although reassuring, this is the first report on this subject and future studies are needed to assess the risk of griseofulvin.

  4. The frequent shift to intermediate flora in preterm delivery cases after abnormal vaginal flora screening

    Science.gov (United States)

    Honda, Hiroshi; Yokoyama, Takanori; Akimoto, Yumiko; Tanimoto, Hirotoshi; Teramoto, Mitsue; Teramoto, Hideki

    2014-01-01

    The effect of screening and treatment for abnormal vaginal flora on the reduction of preterm deliveries remains controversial. We evaluated whether this screening and treatment reduces the preterm delivery rate for general-population pregnant women. Pregnant women of the Intervention group (n = 574) underwent the screening test and the treatment of vaginal metronidazole during the early second trimester, and those of the Control group (n = 1,161) did not. We compared the preterm delivery rate between these two groups. We also compared the profiles of vaginal flora of the preterm delivery cases with those of the pregnant women with a normal course. There was no significant difference in the preterm delivery rate between these two groups. However, in the preterm delivery cases, a frequent shift to intermediate flora was observed not before but after the screening in the Intervention group. This shift may explain why most of the previous studies failed in regard to the prevention of preterm deliveries. PMID:24762852

  5. Use of cephalosporins during pregnancy and in the presence of congenital abnormalities: a population-based, case-control study

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft

    2001-01-01

    Objective: Our purpose was to study the human teratogenic potential of cephalosporin treatment during pregnancy. Study Design: Pair analysis of cases with congenital abnormalities and matched controls without congenital abnormalities was performed. The population-based data set of the Hungarian...... Case-Control Surveillance of Congenital Abnormalities, 1980-1996, was used. The participants included 22,865 pregnant women who had fetuses or newborn infants with congenital abnormalities, 38,151 pregnant women who had infants without any defects (population control group), and 812 mothers who were...... delivered of babies affected with Down syndrome (patient controls). Results: In the case group, 308 (1.35%) pregnant women were treated with cephalosporin. In the population and patient control groups, 440 (1.15%) and 16 (1.97%) pregnant women had similar treatments. The somewhat higher use...

  6. [Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities].

    Science.gov (United States)

    Jiang, Y L; Qi, Q W; Zhou, X Y; Geng, F F; Bai, J J; Hao, N; Liu, J T

    2017-10-25

    Objectives: To analyze 3 cases of 17q12 microdeletion syndrome diagnosed prenatally, and to demonstrate clinical phenotype of the syndrome in prenatal setting. Methods: From January 2013 to July 2017, 1 370 women received invasive prenatal diagnosis and chromosome microarray analysis (CMA) in Peking Union Medical College Hospital. Among them, 3 fetuses were diagnosed as 17q12 microdeletion syndrome. All 3 cases were low-risk pregnancies. Abnormal structures in fetal kidney were found in all 3 cases, including 1 case of multiple renal cysts, 2 cases of bilateral hyperechogenic kidneys. These women accepted invasive prenatal diagnosis followed by karyotyping, parental fluorescence in situ hybridization or CMA validation. Results: The second and third trimester ultrasound showed that all 3 fetuses had bilateral renal structural abnormalities, including hyperechogenic kidney, multiple cysts and renal pelvis dilatation. The karyotyping of the 3 fetuses were normal. CMA examination showed that each case had 1.4-1.6 Mb deletion in 17q12 region. Two cases were de novo deletion and 1 case was inherited from the mother who had mild symptoms. The 3 women decided to terminate pregnancies after genetic counseling. Conclusion: 17q12 microdeletion syndrome is a recurrent chromosome microdeletion syndrome, and the unique phenotype in prenatal setting is the abnormal structure of bilateral kidneys. A few cases of 17q12 microdeletion syndrome even inherited normally phenotypical parents, and prenatal genetic counseling of 17q12 microdeletion syndrome is relatively difficult.

  7. Abnormal imaging findings of the breast related to hormone replacement therapy: analysis of surgically excised cases

    Energy Technology Data Exchange (ETDEWEB)

    Moon, Woo Kyung; Cha, Joo Hee; Cho, Kyung Soo; Choi, Een Wan; Lee, Yu Jin; Im, Jung Gi [College of Medicine, Seoul National Univ., Seoul (Korea, Republic of); Kim, Hyung Seok [Wooridul Spine Hospital, Seoul (Korea, Republic of); Chung, Sun Yang [Bundang CHA General Hospital, Sungnam (Korea, Republic of); Cho, Nariya [Gil Medical Center, Incheon (Korea, Republic of)

    2004-02-01

    To correlate the mammographic and ultrasonographic findings with the pathologic results in women undergoing hormone replacement therapy (HRT), and to determine the characteristic clinical, mammographic or histologic findings of breast cancer in these patients. Twenty-five breast lesions in 25 patients aged 44-65 (mean, 55.5) years undergoing HRT were surgically removed due to abnormal mammographic findings or the presence of palpable masses. Mammograms in all patients and ultrasonograms in 23 were retrospectively analyzed in terms of the shape and margin of the mass, and microcalcifications, and the imaging findings were correlated with the pathologic results. As a control group, 45 cancer patients not undergoing HRT were selected. Using the student t test, detection methods, tumor size, mammographic findings, and the proportion of intraductal cancers were compared between to two groups. Surgical excision revealed ten benign lesions (four fibroadenomas and six cases of fibrocystic change) and 15 cancers (three intraductal and twelve invasive ductal cancers). Abnormal findings at mammography were a mass in 16 cases, clustered microcalcifications in seven, and a mass with microcalcifications in two. Mammography showed that all four circumscribed masses were benign. Five of seven ill-defined masses (71%) and all six spiculated masses were malignant. Three of seven cases (43%) with microcalcifications, and both with a mass and microcalcification, were malignant. In two cases in which ultrasonography revealed cystic lesions, histologic examination showed that fibrocystic change had occurred. Compared to non-HRT-related cancers, HRT-related cancers were more often detected by mammography (60% vs 16%; p<0.001), smaller (17 mm vs 24 mm, p<0.01), showed microcalcification only (20% vs 13%; p<0.05), and were intraductal (20% vs 7%; p<0.01). In patients with HRT, mammographic findings of an ill-defined or spiculated mass, or one with microcalcifications, were associated with

  8. Karyotype analysis of Ethiopian endemic Kniphofia species ...

    African Journals Online (AJOL)

    Image analysis was used to study the karyotype of six Ethiopian Kniphofia species: K. foliosa, K. hildebrandtii, K. insignis, K. isoetifolia, K. schimperi and K. pumila. The first five are endemic to Ethiopia. All have somatic chromosome number of 2n = 12, and follow the same karyotype formula: 1m + 3sm + 2st. There was ...

  9. Karyotype Analysis Activity: A Constructivist Learning Design

    Science.gov (United States)

    Ahmed, Noveera T.

    2015-01-01

    This classroom activity is based on a constructivist learning design and engages students in physically constructing a karyotype of three mock patients. Students then diagnose the chromosomal aneuploidy based on the karyotype, list the symptoms associated with the disorder, and discuss the implications of the diagnosis. This activity is targeted…

  10. Prognostic impact of a suboptimal number of analyzed metaphases in normal karyotype lower-risk MDS.

    Science.gov (United States)

    de Swart, Louise; Smith, Alex; Haase, Detlef; Fenaux, Pierre; Symeonidis, Argiris; Cermak, Jaroslav; Sanz, Guillermo; Stauder, Reinhard; Mittelman, Moshe; Hellström-Lindberg, Eva; Malcovati, Luca; Langemeijer, Saskia; Skov-Holm, Mette; Mądry, Krzysztof; Germing, Ulrich; Almeida, Antonio Medina; Tatic, Aurelia; Savic, Aleksandar; Šimec, Njetočka Gredelj; van Marrewijk, Corine; Guerci-Bresler, Agnes; Sanhes, Laurence; Luño, Elisa; Culligan, Dominic; Beyne-Rauzy, Odile; Burgstaller, Sonja; Blijlevens, Nicole; Bowen, David; de Witte, Theo

    2018-04-01

    Conventional karyotype is one of the most relevant prognostic factors in MDS. However, about 50% of patients with MDS have a normal karyotype. Usually, 20-25 normal metaphases (nMP) are considered to be optimal to exclude small abnormal clones which might be associated with poor prognosis. This study evaluated the impact of examining a suboptimal number of metaphases in patients recruited to the EUMDS Registry with low and intermediate-1 risk according to IPSS. Only 179/1049 (17%) of patients with a normal karyotype had a suboptimal number of nMP, defined as less than 20 metaphases analyzed. The outcome (overall survival and progression-free survival) of patients with suboptimal nMP was not inferior to those with higher numbers of analyzed MP both in univariate and multivariate analyses. For patients with an abnormal karyotype, 224/649 (35%) had a suboptimal number of MP assessed, but this did not impact on outcome. For patients with a normal karyotype and suboptimal numbers of analyzable metaphases standard evaluation might be acceptable for general practice, but we recommend additional FISH-analyses or molecular techniques, especially in candidates for intensive interventions. Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.

  11. A Case of Habitual Neck Compression Induced Electroencephalogram Abnormalities: Differentiating from Epileptic Seizures Using a Tc-99m HMPAO SPECT

    International Nuclear Information System (INIS)

    Choi, Hongyoon; Seo, Minseok; Lee, Hoyoung; Kim, Youngsoo; Yun, Changho; Kim, Sangeun; Park, Sungho

    2014-01-01

    Self-induced hypoxia has been reported particularly in adolescents, and it can result in neurological injury. Here, we present a case of electroencephalogram (EEG) abnormalities induced by habitual neck compression differentiated from epileptic seizures by Tc-99m HMPAO SPECT. A 19-year-old male was admitted for evaluation of recurrent generalized tonic-clonic seizures. No interictal EEG abnormality was detected; however, abnormal slow delta waves were found immediately after habitual right neck compression. To differentiate EEG abnormalities due to a hemodynamic deficit induced by habitual neck compression from an epileptic seizure, Tc-99m HMPAO SPECT was performed immediately after right carotid artery compression. Abnormal delta waves were triggered, and cerebral hypoperfusion in the right internal carotid artery territory was detected on Tc-99m HMPAO SPECT. The slow delta wave detected on the EEG resulted from the cerebral hypoperfusion because of the habitual neck compression

  12. A rare case of Silver-Russell syndrome associated with growth hormone deficiency and urogenital abnormalities

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    Namburi Rajendra Prasad

    2012-01-01

    Full Text Available Introduction: Silver-Russell syndrome (SRS is a very rare genetic disorder. This is usually characterized by asymmetry in the size of the two halves or other parts of the body. Background: We are presenting a case of SRS with growth hormone (GH deficiency and urogenital abnormalities. Case Report: A 15-year-old boy a product of non-consanguineous marriage brought with a history of short stature and poor development of secondary sexual characters. There were no adverse perinatal events, but weighed 1500 g (<3 rd centile at birth. He had delayed developmental milestones. He has had a poor appetite and feeding difficulties since childhood. On physical examination, he had a broad forehead, triangular facies, and low-set prominent ears. Asymmetry of the face, upper and lower extremities was noted, with hemihypertrophy on the right side. His height was 119 cm (<3 rd centile and weight was 18 kg which were low (<3 rd centile as per his age. He was biochemically euthyroid and GH stimulation testing with clonidine (0.15 mg/m 2 showed low GH levels at 30×, 60×, and 90× were 1.7, 1.6, and 1.1ng/ml, respectively. On micturatingcystourethrogram, grade V complex was noted on the right side. Dimercaptosuccinic acid (DMSA showed normal functioning kidneys. He was started on recombinant GH with a height velocity of 10 cm/ year. Conclusion : Urogenital abnormalities are rare but well described anomalies associated with SRS, and all cases have to be screened for them. GH deficiency is not uncommon in SRS, and GH treatment proves to be beneficial.

  13. A nonmosaic 45,X karyotype in a mother with Turner's syndrome and in her daughter.

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    Cools, Martine; Rooman, Raoul P A; Wauters, Jan; Jacqemyn, Yves; Du Caju, Marc V L

    2004-10-01

    To describe a woman with a nonmosaic (45,X) form of Turner's syndrome who gave birth to a girl with 45,X Turner syndrome. Patient report. Outpatient clinic of a university hospital. A woman with typical phenotypic features of Turner syndrome and a 45,X karyotype and her daughter with the same karyotype. None. Routine karyotype analysis on 200 white blood cells on two different occasions, on skin fibroblasts (1,000 mitoses) and on ovarian fibroblasts. Translocation of X-chromosome material was investigated by a complete X paint and fluorescent in situ hybridization analysis. The patient had a spontaneous puberty and became pregnant on three occasions. Her first daughter has a normal karyotype, the second pregnancy ended in spontaneous abortion, and after the third pregnancy, a girl was born with a 45,X karyotype. Karyotype analysis of a large number of mitoses in three different cell types failed to demonstrate any mosaicism. Translocation of X-chromosome material was ruled out by fluorescent in situ hybridization analysis with an X paint. This is a rare case of pregnancy in a nonmosaic Turner syndrome patient and, to our knowledge, is the only one that resulted in a live-born baby with the same karyotype. Cryptic mosaicism could not be found despite thorough investigations. Some hypotheses are presented that may explain this unique event.

  14. Surgical correction of congenital esotropia alternating and subsequent abnormal correspondence retinal: a case report

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    Luigi Mazzeo

    2015-10-01

    Full Text Available Introduction: Accomodative esotropia is secondary to inappropriate convergence during accomodative effort in an uncorrected hyperope and is often familial. Case presentation: we report the case of 20 year old Caucasian patient with congenital esotropia alternating, of 30 prism diopters distance (5 m and 40 prism diopters of esotropia at near, in both eyes. Measures: Was performed strabismus, in peribulbar anesthesia, the right medial rectus was cashed 3.0mm, the left medial rectus was collected 3.5 mm. Results: Immediately after surgery, the patient complained of intermittent diplopia, resolved with orthotic exercise which stimulated binocular vision, Conclusion: This case report suggests that the surgical correction strabismus, should be considered with due caution in the treatment of congenital esotropia alternating and branches, and in some clinical scenarios selected to avoid the complication of postoperative diplopia, that in the case report resolved so benign. After three months surgical treatmen, remains a small angle strabismus aesthetically acceptable, has not given double vision and remains abnormal retinal correspondence with orthotic exercise.

  15. Abnormal portal vein waveform as an indicator of constrictive pericarditis – a case report

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    Joanna Ścieszka

    2015-06-01

    Full Text Available We report a case of a 17-year-old patient referred to our outpatient Doppler Department due to clinical suspicion of liver cirrhosis. The patient presented with non-specifi c symptoms, such as malaise, pain in the right subcostal region, peripheral oedema. Until then, diagnostic imaging, including echocardiography was inconclusive. We performed the Doppler sonography of the portal system, which revealed normal diameter of the portal vein with abnormal, phasic and markedly pulsatile waveform. Hepatic veins distention with pathological reverse fl ow during systole was reported. Additionally, inferior vena cava was dilated and remained unchanged through the respiratory cycle. Basing on the above image a heart disease, which had not been taken into differential diagnosis before, was suggested. The following echocardiography, together with computed tomography, enabled a diagnosis of constrictive pericarditis. Successful pericardiotomy was performed. Such a complicated diagnostics happened to demonstrate an uncommon example of the use of portal vein waveform in making the proper cardiologic diagnosis.

  16. Neonatal seizures: the overlap between diagnosis of metabolic disorders and structural abnormalities. Case report

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    Freitas Alessandra

    2003-01-01

    Full Text Available Inborn metabolic errors (IME and cortical developmental malformations are uncommon etiologies of neonatal seizures, however they may represent treatable causes of refractory epilepsy and for this reason must be considered as possible etiological factors. This case report aims to demonstrate the importance of neuroimaging studies in one patient with neonatal seizures, even when there are clues pointing to a metabolic disorder. CASE REPORT: A previously healthy 14 day-old child started presenting reiterated focal motor seizures (FMS which evolved to status epilepticus. Exams showed high serum levels of ammonia and no other abnormalities. A metabolic investigation was conducted with normal results. During follow-up, the patient presented developmental delay and left side hemiparesia. Seizures remained controlled with anti-epileptic drugs for four months, followed by relapse with repetitive FMS on the left side. Temporary improvement was obtained with anti-epileptic drug adjustment. At the age of 6 months, during a new episode of status epilepticus, high ammonia levels were detected. Other metabolic exams remained normal. The child was referred to a video-electroencephalographic monitoring and continuous epileptiform discharges were recorded over the right parasagittal and midline regions, with predominance over the posterior quadrant. A new neuroimaging study was performed and displayed a malformation of cortical development. Our case illustrates that because newborns are prone to present metabolic disarrangement, an unbalance such as hyperammonemia may be a consequence of acute events and conduct to a misdiagnosis of IME.

  17. Ovotesticular disorder of sex development with unusual karyotype: patient report.

    Science.gov (United States)

    Paula, Georgette Beatriz; Ribeiro Andrade, Juliana Gabriel; Guaragna-Filho, Guilherme; Sewaybricker, Letícia Esposito; Miranda, Márcio Lopes; Maciel-Guerra, Andréa Trevas; Guerra-Júnior, Gil

    2015-05-01

    Ovotesticular disorder of sex development (OT-DSD) (true hermaphroditism) is an anatomopathological diagnosis based on the findings of testicular and ovarian tissues in the same subject, in the same gonad (ovotestis), or in separate gonads. OT-DSD is a rare cause of sex ambiguity, and the most common karyotype is 46,XX; mosaics and chimeras are found only in 10%-20%. To report a case of an OT-DSD patient with a rare karyotype constitution. A 2-month-old child with male sex assignment was referred to our clinic for investigation of sex ambiguity. He was the second child of healthy unrelated parents; pregnancy and labor were uneventful. On physical examination, he had a 2.3-cm phallus and perineal hypospadias (Prader grade III); the right gonad was in the labioscrotal fold and the left was found in the inguinal channel. Karyotype was 46,XX/47,XXY/48,XXYY. Anatomopathological examination of gonads revealed right testis and left ovotestis. The male sex assignment was maintained; the child underwent left gonadectomy, removal of Mullerian structures and urethroplasty. A thorough revision of literature revealed a single case of OT-DSD with the same chromosome constitution. Gonadal biopsy is necessary to establish diagnosis in cases of sex chromosome mosaicism.

  18. Coexistence of congenital diaphragmatic hernia and abdominal wall closure defect with chromosomal abnormality: two case reports.

    Science.gov (United States)

    Inoue, Seiichiro; Odaka, Akio; Muta, Yuki; Beck, Yoshifumi; Sobajima, Hisanori; Tamura, Masanori

    2016-01-22

    We reported two rare cases of congenital diaphragmatic hernia with abdominal wall closure defect, which were not associated with septum transversum diaphragmatic defects or Fryns syndrome. Case 1: a Japanese baby boy was delivered at 37 weeks' gestation by urgent cesarean section because of the diagnosis of severe fetal distress. Congenital diaphragmatic hernia with omphalocele was prenatally diagnosed with fetal ultrasound. A ruptured omphalocele was confirmed at delivery. A silo was established on the day of his birth; direct closure of his diaphragmatic defect and abdominal wall closure was performed on the fifth day after his birth. Trisomy 13 was confirmed by genetic examination. His postoperative course was uneventful and he was discharged 5 months postnatally with home oxygen therapy. He was readmitted because of heart failure and died at 6 months. Case 2: a Japanese baby boy, who was prenatally diagnosed with gastroschisis, was delivered at 35 weeks' gestation by urgent cesarean section because of the diagnosis of fetal distress. Silo construction using a wound retractor was performed on the day of his birth and direct abdominal closure was performed on the tenth day after his birth. Trisomy 21 was confirmed by genetic examination. Treatment for his respiratory distress was continued after surgery. A retrosternal hernia was revealed at 6 months and direct closure of retrosternal diaphragm with the resection of hernia sac was performed. His postoperative course was uneventful and he was discharged with home oxygen therapy. Attention should be paid to chromosomal abnormality in cases in which the coexistence of congenital diaphragmatic hernia and abdominal wall closure defect are observed.

  19. Karyotype classification, clinical manifestations and outcome in 124 Turner syndrome patients in China.

    Science.gov (United States)

    Wu, Hua-Hong; Li, Hui

    2018-03-23

    To investigate the karyotype, clinical manifestations and natural and therapeutic outcome of Turner syndrome (TS) in China. A total of 124 TS patients with definite diagnosis were included. Karyotype, main clinical signs, sexual development and therapeutic outcome were analyzed. TS karyotype was classified in 4 types: monosomy (32.7%), mosaic (15.9%), variant (23.9%) and mosaic with variant (27.4%). All patients showed short stature, with mean adult height<145cm. Sixteen percent of adolescent patients showed spontaneous breast development and 8% spontaneous menstruation. The rate of spontaneous sexual development was lowest in the monosomy karyotype. Common signs included cubitus valgus and wide breast space in about 50% of patients, epicanthus and skin nevus in 30% and webbed neck and shield chest in 10-20%. More than 10% of patients had associated heart, kidney or thyroid abnormalities. The rate of kidney malformation was highest in the monosomy karyotype. Growth hormone (GH) therapy can accelerate growth, with 7.6cm and 6.7cm increase in height in the first and second years of therapy respectively, slowing to 5.7cm and 4.1cm in the third and fourth years. Treated patients who reached nearly adult height were 10.2cm taller than untreated patients. Therapeutic effect correlated with GH therapy duration. TS patients showed a variety of karyotypes, related to the diversity of clinical manifestations and outcomes. Sexual development and adult height were poorer in monosomy karyotypes than in other types. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

  20. An efficient protocol for the detection of chromosomal abnormalities in spontaneous miscarriages or foetal deaths.

    Science.gov (United States)

    Dória, Sofia; Carvalho, Filipa; Ramalho, Carla; Lima, Vera; Francisco, Tânia; Machado, Ana Paula; Brandão, Otília; Sousa, Mário; Matias, Alexandra; Barros, Alberto

    2009-12-01

    Characterization of chromosomal abnormalities in 232 spontaneous miscarriages or foetal deaths using both classical and molecular cytogenetics. Chromosomal abnormalities are responsible for 40-50% of all early pregnancy losses. Conventional cytogenetics is associated with 10-40% of culture failure. Comparative genomic hybridization (CGH) is a DNA-based technique that screens chromosome imbalances in the whole genome and may overcome this problem, although additional methods are required to distinguish between different ploidies, mosaicisms and maternal cell contamination. For a full characterization of chromosomal aberrations in 232 spontaneous miscarriages or foetal deaths we applied a sequential protocol that uses conventional cytogenetics, plus CGH and touch fluorescence in situ hybridization (Touch FISH). Successful karyotyping was obtained in 173/232 (74.6%) of the cases, 66/173 (38.2%) of which had an abnormal chromosomal complement. CGH and Touch FISH analyses revealed another 19 abnormal cases in the 63 failures of culture. Overall there were 85/233 (36.6%) cases with an abnormal chromosomal complement, with examples from all three trimesters. Comparing cases, with or without chromosomal abnormalities, no statistical differences were found between women with one or recurrent miscarriages. On the contrary, significant differences were found comparing mean maternal ages or mean gestational ages, in cases with or without chromosomes abnormalities. Adopting this sequential protocol, chromosomal complement information was available even in cases with culture failure.

  1. Karyotype of cryopreserved bone marrow cells

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    M.L.L.F. Chauffaille

    2003-07-01

    Full Text Available The analysis of chromosomal abnormalities is important for the study of hematological neoplastic disorders since it facilitates classification of the disease. The ability to perform chromosome analysis of cryopreserved malignant marrow or peripheral blast cells is important for retrospective studies. In the present study, we compared the karyotype of fresh bone marrow cells (20 metaphases to that of cells stored with a simplified cryopreservation method, evaluated the effect of the use of granulocyte-macrophage colony-stimulating factor (GM-CSF as an in vitro mitotic index stimulator, and compared the cell viability and chromosome morphology of fresh and cryopreserved cells whenever possible (sufficient metaphases for analysis. Twenty-five bone marrow samples from 24 patients with hematological disorders such as acute myeloid leukemia, acute lymphoblastic leukemia, myelodysplastic syndrome, chronic myeloid leukemia, megaloblastic anemia and lymphoma (8, 3, 3, 8, 1, and 1 patients, respectively were selected at diagnosis, at relapse or during routine follow-up and one sample was obtained from a bone marrow donor after informed consent. Average cell viability before and after freezing was 98.8 and 78.5%, respectively (P < 0.05. Cytogenetic analysis was successful in 76% of fresh cell cultures, as opposed to 52% of cryopreserved samples (P < 0.05. GM-CSF had no proliferative effect before or after freezing. The morphological aspects of the chromosomes in fresh and cryopreserved cells were subjectively the same. The present study shows that cytogenetic analysis of cryopreserved bone marrow cells can be a reliable alternative when fresh cell analysis cannot be done, notwithstanding the reduced viability and lower percent of successful analysis that are associated with freezing.

  2. Pregnancy outcome for fetuses with increased nuchal translucency but normal karyotype.

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    Lithner, Christina Unger; Kublickas, Marius; Ek, Sverker

    2016-03-01

    To investigate pregnancy outcome for fetuses with nuchal translucency (NT) ≥3.5 mm but normal karyotype in the Stockholm (Sweden) area. A retrospective population-based cohort study. From 2006 to 2012, fetal NT was measured in 55123 singleton pregnancies. There were 341 pregnancies with NT thickness ≥3.5 mm; 139 had a normal karyotype, 164 had an abnormal karyotype and 38 were removed from the study. Pregnancy outcome was defined as adverse (termination of pregnancy [TOP], miscarriage [MC], intrauterine fetal death [IUFD], or delivery of a child with structural defects or genetic disorders), or favourable (delivery of a child without any structural defects or genetic disorders diagnosed before discharge). Of the 139 high NT pregnancies with normal karyotype, 110 (79.2%) resulted in live births, one (0.7%) IUFD, 23 (16.5%) TOP and five (3.6%) MC. The risk of an adverse pregnancy outcome increased with increasing NT. Structural fetal defects were found in 28 (19.5%) of pregnancies undergoing second trimester ultrasound screening, of which seven resulted in live births and 21 were terminated. The most common structural defect was cardiac defects. Adverse pregnancy outcome increased with increasing NT, even with normal karyotype, however, the prognosis is good if the second trimester ultrasound screening is normal. © The Author(s) 2015.

  3. Identification of a structural chromosomal rearrangement in the karyotype of a root vole from Chernobyl

    International Nuclear Information System (INIS)

    Nadzhafova, R.S.; Bulatova, N.Sh.; Kozlovskii, A.I.; Ryabov, I.N.

    1994-01-01

    Karyological studies of rodents within a 30-km radius of the Chernobyl nuclear power plant revealed one female root vole (Microtus oeconomus) with an abnormal karyotype. The use of C, G, and AgNOR banding methods allowed determination that morphological changes in two nonhomologous autosomes, which were accompanied by rearrangements in distribution of G bands, heterochromatin, and NOR, are the result of a reciprocal translocation. Chromosomal aberrations were probably inherited or appeared in embryogenesis, since none of the analyzed cells of the studied vole had a normal karyotype. It is important to note that this rearrangement was detected five years after the meltdown. Both breaks and reunions of the chromosomes that participate in this rearrangement are probably located in regions that are not important for functioning of these chromosomes. Thus, it can be supposed that the detected rearrangement did not influence the viability of the vole. This karyotype was compared to a standard karyotype of a root vole from another area of the species range. The heteromorphism of the first pair of chromosomes in both voles, which was detected for the first time, is probably normal for the karyotype of M. oeconomus and is not linked with any radiation-induced intrachromosomal aberrations

  4. [A case of abnormal hemoglobin (HbJ Cape Town) with high serum levels of HbAlc].

    Science.gov (United States)

    Horiuchi, T; Nakamura, T; Tsutsumi, H; Miyao, M; Inoue, J; Araki, A; Hattori, A; Harano, A; Mori, M; Ito, H

    1996-02-01

    We describe a case of hemoglobinopathy detected on admission for examination for high blood glucose levels and abnormal liver function. In 1991, it was pointed out that he had postprandial hyperglycemia. In 1994, at age 60, he had lassitude and anorexia. He was admitted to our hospital on the suspicion of diabetes mellitus and liver disease. Glycosylated hemoglobin levels was very high, but the 75 gram oral glucose tolerance test result was within the normal range. After abstinence from alcohol, his glutamic oxaloacetic transaminase, glutamic pyruvic transaminase and gamma glutamyl traspeptidase became normal. Diabetes was excluded and abnormal hemoglobinopathy had been suspected. We analyzed his abnormal hemoglobin. In isoelectro-phoresis a fast moving variant was detected suggesting the presence of abnormal hemoglobin at the cathode. We fractionated hemolytic globin by CM-chromatography and detected an abnormal peak before the alpha chain band. Subsequently, we sequenced isolated abnormal alpha chain and detected the substitution of Ariginine for Glutamamine at position 92 (Hb J Cape Town). So far he has not demonstrated any symptoms or signs of HbJ Cape Town. Hemoglobinopathy is not uncommon in aged people.

  5. Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype.

    Science.gov (United States)

    Frelich, Agnieszka; Frelich, Jakub; Jeż, Wacław; Irzyniec, Tomasz

    2017-01-01

    A 45,X/46,XY karyotype in women with Turner syndrome (TS) is very rare. The presence of a Y chromosome in the karyotype causes phenotypic differences and increased risk for neoplastic disease, compared to TS-women with other karyotypes. Our study addresses an issue: non-genital phenotypic differences between TS-patients with a Y-chromosome of their karyotype and TS-women without it. Results from patient history/physical examinations of the head and neck of eight TS-women and the 45,X/46,XY karyotype were compared with those observed in 164 TS-women and 30 controls. The heights of TS-groups: 142.5 ± 7.2 and 144.9 ± 7.2 cm were lower than controls (165.2 ± 6.6 cm). Participants were examined from 1995 to 2014. Among 28 study parameters, 15 were more frequently observed in TS women with the 45,X/46,XY karyotype compared to controls. Only abnormalities in the oral cavity and a history of childhood lymphoedema, differed significantly in the TS groups. With respect to the head and neck, the patient history and physical examination results of TS-women and the 45,X/46,XY karyotype and TS and other karyotypes revealed similar differences compared to controls. Compared to others TS patients, 45,X/46,XY individuals might more frequently have oral cavity soft tissue abnormalities and more rarely a history of childhood lymphoedema. (Endokrynol Pol 2017; 68 (1): 47-52).

  6. Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong.

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    Anita S Y Kan

    Full Text Available OBJECTIVE: To evaluate the effectiveness of whole-genome array comparative genomic hybridization (aCGH in prenatal diagnosis in Hong Kong. METHODS: Array CGH was performed on 220 samples recruited prospectively as the first-tier test study. In addition 150 prenatal samples with abnormal fetal ultrasound findings found to have normal karyotypes were analyzed as a 'further-test' study using NimbleGen CGX-135K oligonucleotide arrays. RESULTS: Array CGH findings were concordant with conventional cytogenetic results with the exception of one case of triploidy. It was found in the first-tier test study that aCGH detected 20% (44/220 clinically significant copy number variants (CNV, of which 21 were common aneuploidies and 23 had other chromosomal imbalances. There were 3.2% (7/220 samples with CNVs detected by aCGH but not by conventional cytogenetics. In the 'further-test' study, the additional diagnostic yield of detecting chromosome imbalance was 6% (9/150. The overall detection for CNVs of unclear clinical significance was 2.7% (10/370 with 0.9% found to be de novo. Eleven loci of common CNVs were found in the local population. CONCLUSION: Whole-genome aCGH offered a higher resolution diagnostic capacity than conventional karyotyping for prenatal diagnosis either as a first-tier test or as a 'further-test' for pregnancies with fetal ultrasound anomalies. We propose replacing conventional cytogenetics with aCGH for all pregnancies undergoing invasive diagnostic procedures after excluding common aneuploidies and triploidies by quantitative fluorescent PCR. Conventional cytogenetics can be reserved for visualization of clinically significant CNVs.

  7. Childhood Laryngeal Dystonia Following Bilateral Globus Pallidus Abnormality: A Case Study and Review of Literature

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    Mohammad Javad Saeedi Borujeni

    2017-01-01

    Full Text Available Introduction:Dystonia is a disorder of movement caused by various etiologies. Laryngeal dystonia is caused by the spasm of laryngeal muscles. It is a disorder caused by vocal fold movement in which excessive adduction or abduction of the vocal folds occurs during speech. The pathophysiology of this type of dystonia is not fully known. Some researchers have suggested that basal ganglia structures and their connections with cortical areas have been involved in the pathogenesis of dystonia. Case Report:In this paper a 7.5-year-old boy suffering from laryngeal dystonia with bilateral lesions in Globus Pallidus is presented. The patient also suffered from swallowing problems, monotone voice, vocal tremor, hypersensitivity of gag reflex, and stuttering. Drug treatment failed to cure him; therefore, he was referred to rehabilitation therapy.  Conclusion:In conclusion, special attention should be brought upon laryngeal dystonia, especially in patients showing Extra-pyramidal symptoms and/or abnormalities of the basal ganglia. In children, laryngeal dystonia may be potentially fatal. Lack of consideration for this condition during rehabilitation therapy can lead to serious consequences for a child.

  8. Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia.

    Science.gov (United States)

    Tsao, Chang Y; Wenger, Gail D; Bartholomew, Dennis W

    2005-04-15

    Seizures are rarely reported in association with deletion or duplication syndromes of the short arm of chromosome 5, or with chromosome 5 rings. We report on the clinical and cytogenetic findings in a girl with Cri du chat syndrome associated with complex abnormalities in chromosome 5, dysmorphic features, flexor infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia in her brain. Peripheral blood cytogenetic analysis indicates a mosaic karyotype with de novo deletion of varying amounts of 5p and pericentric inversion of the same chromosome 5. The deleted segment on 5p includes the region implicated in the catlike cry as well as sequences implicated in development of facial dysmorphism and mental retardation. This is the first case with Cri du chat syndrome associated with nonketotic hyperglycinemia, infantile spasms, hypsarrhythmia, and heterotopia. (c) 2005 Wiley-Liss, Inc.

  9. Molecular characterization of complex chromosomal rearrangement: first report of novel t(7;12) (q11;q22) as part of a complex karyotype in de novo AML-M2 case.

    Science.gov (United States)

    Ahmad, Firoz; Dalvi, Rupa; Mandava, Swarna; Das, Bibhu R

    2014-12-01

    The strong association of diagnostic karyotype with clinical outcome has made cytogenetics one of the most valuable diagnostic and prognostic tools for acute myeloid leukemia (AML) till today. Complex chromosomal findings are reported to be seen in nearly 10-15% of adult AMLs and are generally associated with poor outcome. In the current report, we present the results of hematologic, immunophenotypic, cytogenetic, chromosomal microarray and molecular analyses of a 60-year-old female patient diagnosed with AML-M2. Cytogenetic analysis revealed complex chromosomal findings involving seven different chromosomes. However, cytogenetic analyses were not able to precisely unveil all karyotypic changes, hence chromosomal microarray was used for further characterization. The most interesting observation was identification of a t(7;12) (q11;q22) as part of this complex karyotype. To the best of our knowledge, this is the first report of identification of novel t(7;12) (q11;q22) as part of a complex karyotype in de novo AML-M2. Copyright © 2014 Elsevier GmbH. All rights reserved.

  10. Clinical disease characteristics according to karyotype in Turner syndrome

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    Chae Young Yeo

    2010-02-01

    Full Text Available Purpose : Turner syndrome (TS is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems. Results : The distribution of karyotype was 45,X (47.8%, mosaic pattern (34.4% and structural aberration group (17.8 %. Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0 %, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%, cardiovascular anomalies (18.6%, thyroid disorders (9.3% and auditory problems (11.6%. Mosaic group had renal anomalies (3.2%, thyroid disorders (12.9%, no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%, thyroid disorders (12.5% and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P=0.025. Conclusion : Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.

  11. [Case control study on the association between abnormality curvature of cervical spine and pathogenesy of cervical spondylosis].

    Science.gov (United States)

    Zhang, Ming-Cai; Shi, Yin-Yu; Wang, Xiang; Huang, Shi-Rong; Zhan, Hong-Sheng

    2010-10-01

    To explore the relationship between the abnormality curvature of cervical spine and pathogenesy of cervical spondylosis, in order to provide a new way in diagnosis of cervical spondylosis. There were two groups in the study, which were non-cervical spondylosis group (with heath adults) and cervical spondylosis group. From March 2006 to December 2008, 333 patients (out-patients in department of orthopaedics of Shuguang hospital) in cervical spondylosis group, which were 119 males, 214 females with an average age of (48.11 +/- 12.21) years. There were 73 subjects in non-cervical spondylosis group, which was 18 males, 55 females with an average age of (45.99 +/- 11.47) years. Based on the lateral view X-ray pictures of cervical spine, the abnormality curvature and character of cervical spine were studied in two groups. The incidence rate in abnormality curvature of cervical spine in cervical spondylosis group (achieved to 95.50%) was more than that of non-cervical spondylosis group, there was significant difference between two groups (P = 0.000 spondylosis group was complicated and variegated, of which physiological curvature diminished had 23.12% (77 cases), turn straight had 40.84% (136 cases), increased had 0.60% (2 cases), recurved had 12.01% (40 cases), S shape had 4.20%(14 cases), contra-S shape had 2.70% (9 cases), upper flex and lower straight had 4.50% (15 cases), upper straight and lower flex had 7.51% (25 cases). The abnormality curvature of cervical spine may be an X-ray diagnostic indication to the cervical spondylosis, which is complicated and variegated. It will provide the guidance for the diagnosis and treatment of cervical spondylosis.

  12. Del(20q) in patients with chronic lymphocytic leukemia: a therapy-related abnormality involving lymphoid or myeloid cells.

    Science.gov (United States)

    Yin, C Cameron; Tang, Guilin; Lu, Gary; Feng, Xiaoli; Keating, Michael J; Medeiros, L Jeffrey; Abruzzo, Lynne V

    2015-08-01

    Deletion 20q (Del(20q)), a common cytogenetic abnormality in myeloid neoplasms, is rare in chronic lymphocytic leukemia. We report 64 patients with chronic lymphocytic leukemia and del(20q), as the sole abnormality in 40, a stemline abnormality in 21, and a secondary abnormality in 3 cases. Fluorescence in situ hybridization (FISH) analysis revealed an additional high-risk abnormality, del(11q) or del(17p), in 25/64 (39%) cases. In most cases, the leukemic cells showed atypical cytologic features, unmutated IGHV (immunoglobulin heavy-chain variable region) genes, and ZAP70 positivity. The del(20q) was detected only after chemotherapy in all 27 cases with initial karyotypes available. With a median follow-up of 90 months, 30 patients (47%) died, most as a direct consequence of chronic lymphocytic leukemia. Eight patients developed a therapy-related myeloid neoplasm, seven with a complex karyotype. Combined morphologic and FISH analysis for del(20q) performed in 12 cases without morphologic evidence of a myeloid neoplasm localized the del(20q) to the chronic lymphocytic leukemia cells in 5 (42%) cases, and to myeloid/erythroid cells in 7 (58)% cases. The del(20q) was detected in myeloid cells in all 4 cases of myelodysplastic syndrome. In aggregate, these data indicate that chronic lymphocytic leukemia with del(20q) acquired after therapy is heterogeneous. In cases with morphologic evidence of dysplasia, the del(20q) likely resides in the myeloid lineage. However, in cases without morphologic evidence of dysplasia, the del(20q) may represent clonal evolution and disease progression. Combining morphologic analysis with FISH for del(20q) or performing FISH on immunomagnetically selected sub-populations to localize the cell population with this abnormality may help guide patient management.

  13. Karyotypes of eight species of Leptodactylus (Anura, Leptodactylidae with a description of a new karyotype for the genus

    Directory of Open Access Journals (Sweden)

    Renata Cecília Amaro-Ghilardi

    2006-12-01

    Full Text Available Eight species of the Neotropical genus Leptodactylus were karyologically studied: seven of them (L. gracilis, L. mystacinus,L. petersii, L. pustulatus, L. macrosternum, L. ocellatus, L. labyrinthicus presented 2n=22 and L. silvanimbus showed a distinctive karyotype with 2n=24. Nucleolar organizer regions (Ag-NORs were detected in two different pairs of chromosomes: pair 4 at the proximal region of the long arm of one individual of L. mystacinus from São Paulo state and of L. petersii; and pair 8 of all other species (located terminally at the short arm of L. silvanimbus, L. ocellatus, L. macrosternum, L. pustulatus, and L. labyrinthicus; interstitially at the short arm in L. gracilis; and at the long arm in L. mystacinus from Mato Grosso state. The diploid number reported here for L. silvanimbus shared with Scythrophrys and Paratelmatobius could represent the ancestral chromosome number for Leptodactylus (sensu Frost et al. 2006; in this case the 2n=22 karyotypes would then represent the derivative condition for the genus. Nevertheless, the distinctive karyotype of L. silvanimbus lead us to preclude a final decision on its relationships. Additional studies including morphological and molecular approaches are needed in order to clarify the phylogenetic position of L. silvanimbus.

  14. [Risk factors associated with abnormal cervical cytology among Chilean women: a case control study].

    Science.gov (United States)

    Solis, María Teresa; Aguayo, Francisco; Vargas, Macarena; Olcay, Fabiola; Puschel, Klaus; Corvalán, Alejandro; Ferreccio, Catterina

    2010-02-01

    Cervical cancer is the third cause of cancer death among Chilean women, affecting mainly women from low socioeconomic status. To determine main risk factors (RF) including human papiloma virus (HPV) types associated with abnormal cervical cytology (Atypical Squamous Cells of Undetermined Significance or ASCUS) among Chilean women from low socioeconomic status in Santiago, Chile. A random population based sample of 616 women from La Pintana (a low-income district in Santiago) participated in 2001 in a HPV prevalence study and were re-evaluated in 2006 through a risk factors questionnaire, Papanicolaou test and DNA detection for HPV. The Papanicolaou test was analyzed in Santiago and HPV analysis (PCR_GP5+/GP6+) was conducted in Vrije University, Amsterdam. Cases included 42 women with cervical lesions and controls included 574 women with normal cytology during the period 2001-2006. Logistic regression with uni and multivariate analysis was performed to identify RF for cervical lesions. During the study period, there was a significant increase in the proportion of single women, from 8.3 to 14.8% (p ASCUS). High risk HPV was the most significant factor associated with cervical lesions (odds ratio (OR) = 9.695% > confidence intervals (CI) = 4.4-21.1) followed by oral contraceptive use (OR = 2.58 95% > CI = 1.2-5.7). Among women infected by high risk HPV, the use of oral contraceptives was a risk factor while compliance with screening was protective for cervical lesions. From 2001 to 2006, there was an increase in the proportion of women with high-risk HPV infections.

  15. Risk of cervical abnormalities in women with inflammatory bowel disease: a population-based nested case-control study.

    Science.gov (United States)

    Singh, Harminder; Demers, Alain A; Nugent, Zoann; Mahmud, Salaheddin M; Kliewer, Erich V; Bernstein, Charles N

    2009-02-01

    We evaluated the risk of cervical abnormalities in women with inflammatory bowel disease (IBD) in a population-based, nested, case-control study. Cases with abnormal Papanicolaou (Pap) smears or cervical biopsies were matched with up to 3 controls (normal Pap smears) by year of birth, year of first health care coverage, and number of Pap smears in the preceding 5 years. A diagnosis of IBD before the index date was identified from the University of Manitoba IBD Epidemiology Database. Exposures to immunosuppressant drugs and corticosteroids were determined from the provincial drug prescription database. Analyses were adjusted for socioeconomic status and exposure to oral contraceptives and nonsteroidal anti-inflammatory drugs. 19,692 women with cervical cytologic and/or histologic abnormalities were matched with 57,898 controls with normal Pap smears. There was no association between cervical abnormalities and ulcerative colitis (odds ratio [OR], 1.03; 95% confidence interval [CI], 0.77-1.38). The increase in risk in women with Crohn's disease was limited to those exposed to 10 or more prescriptions of oral contraceptives (OR, 1.66; 95% CI, 1.08-2.54). The combined exposure to corticosteroids and immunosuppressants was associated with increased risk of cervical abnormalities (OR, 1.41; 95% CI, 1.09-1.81). There was no interaction between the effect of IBD and corticosteroids and/or immunosuppressants. These findings do not support an association between IBD itself and the risk of developing cervical abnormalities. An increased risk in patients given a combination of corticosteroids and immunosuppressants should be considered in managing women with IBD.

  16. Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report

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    Rongen Michel A

    2009-07-01

    Full Text Available Abstract Background Complex chromosomal rearrangements (CCR are rare cytogenetic findings that are difficult to karyotype by conventional cytogenetic analysis partially because of the relative low resolution of this technique. High resolution genotyping is necessary in order to identify cryptic imbalances, for instance near the multiple breakpoints, to explain the abnormal phenotype in these patients. We applied several molecular techniques to elucidate the complexity of the CCRs of two adult patients with abnormal phenotypes. Results Multicolour fluorescence in situ hybridization (M-FISH showed that in patient 1 the chromosomes 1, 10, 15 and 18 were involved in the rearrangement whereas for patient 2 the chromosomes 5, 9, 11 and 13 were involved. A 250 k Nsp1 SNP-array analysis uncovered a deletion in chromosome region 10p13 for patient 1, harbouring 17 genes, while patient 2 showed no pathogenic gains or losses. Additional FISH analysis with locus specific BAC-probes was performed, leading to the identification of cryptic interstitial structural rearrangements in both patients. Conclusion Application of M-FISH and SNP-array analysis to apparently balanced CCRs is useful to delineate the complex chromosomal rearrangement in detail. However, it does not always identify cryptic imbalances as an explanation for the abnormal phenotype in patients with a CCR.

  17. Absent cervical spine pedicle and associated congenital spinal abnormalities - a diagnostic trap in a setting of acute trauma: case report

    Directory of Open Access Journals (Sweden)

    Wildermuth Simon

    2010-11-01

    Full Text Available Abstract Background Congenital spinal abnormalities can easily be misdiagnosed on plain radiographs. Additional imaging is warranted in doubtful cases, especially in a setting of acute trauma. Case Presentation This patient presented at the emergency unit of our university hospital after a motor vehicle accident and was sent to our radiology department for imaging of the cervical spine. Initial clinical examination and plain radiographs of the cervical spine were performed but not conclusive. Additional CT of the neck helped establish the right diagnosis. Conclusion CT as a three-dimensional imaging modality with the possibility of multiplanar reconstructions allows for the exact diagnosis and exclusion of acute traumatic lesions of the cervical spine, especially in cases of doubtful plain radiographs and when congenital spinal abnormalities like absent cervical spine pedicle with associated spina bifida may insinuate severe trauma.

  18. Adverse Pregnancy Outcomes after Abnormal First Trimester Screening for Aneuploidy

    OpenAIRE

    Goetzl, Laura

    2010-01-01

    Women with abnormal first trimester screening but with a normal karyotype are at risk for adverse pregnancy outcomes. A nuchal translucency >3.5mm is associated with an increased risk of subsequent pregnancy loss, fetal infection, fetal heart abnormalities and other structural abnormalities. Abnormal first trimester analytes are also associated with adverse pregnancy outcomes but the predictive value is less impressive. As a single marker, PAPP-A

  19. Distribution of maternal age and birth order groups in cases with unclassified multiple congenital abnormalities according to the number of component abnormalities: a national population-based case-control study.

    Science.gov (United States)

    Csermely, Gyula; Czeizel, Andrew E; Veszprémi, Béla

    2015-02-01

    Multiple congenital abnormalities are caused by chromosomal aberrations, mutant major genes and teratogens. A minor proportion of these patients are identified as syndromes but the major part belonging to the group of unclassified multiple CAs (UMCAs). The main objective of this study was to evaluate the maternal age and birth order in pregnant women who had offspring affected with UMCA. The strong association between numerical chromosomal aberrations, e.g., Down syndrome and advanced maternal age is well-known and tested here. The Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980 to 1996, yielded a large population-based national data set with 22,843 malformed newborns or fetuses ("informative cases") included 1349 UMCA cases with their 2407 matched controls. Case-control comparison of maternal age and birth order was made for cases with UMCA, stratified by component numbers and their controls. In addition, 834 cases with Down syndrome were compared to 1432 matched controls. The well-known advanced maternal age with the higher risk for Down syndrome was confirmed. The findings of the study suggest that the young age of mothers associates with the higher risk of UMCA, in addition birth order 4 or more associates with the higher risk for UMCA with 2 and 3 component CAs. This study was the first to analyze the possible maternal and birth order effect for cases with UMCA, and the young age and higher birth order associated with a higher risk for UMCA. © 2014 Wiley Periodicals, Inc.

  20. Lung hypoplasia and its associated major congenital abnormalities in perinatal death: an autopsy study of 850 cases.

    Science.gov (United States)

    Aghabiklooei, A; Goodarzi, P; Kariminejad, Mohammad H

    2009-11-01

    To determine the relative frequency of causes of lung hypoplasia (LH) and its associated congenital malformations among perinatal deaths. 850 medical reports of perinatal autopsies, in a 25-year period, assessed for LH as a cause of death. LH found in 96 (11.3%) cases, 89 (92.7%) were associated with major congenital malformation (secondary type) and primary type was seen in 7 cases (7.3%). Fourteen cases were associated with multiple congenital anomalies. 32 cases (33.3%) with Genito-urinary anomalies were the most common associated major malformations, followed by 19 cases (19.8%) of diaphragmatic impairment, 15 cases (15.6%) of musculoskeletal abnormalities and 11 cases (11.4%) of kidney agenesis. The most common musculoskletal abnormality was thanatophoric dwarfism in 10 cases (10.4%). Meckle-Gruber syndrome with 7 affected fetuses (7.3%) was the most common malformation syndrome associated with LH. More than ninety percent of LH was secondary to pathology outside the respiratory tract. Renal agenesis is the most common association observed in LH, followed by diaphragmatic hernia and thanatophoric dysplasia.

  1. Chromosomal abnormalities in amenorrhea: a retrospective study and review of 637 patients in South India.

    Science.gov (United States)

    Dutta, Usha R; Ponnala, Rajitha; Pidugu, Vijaya Kumar; Dalal, Ashwin B

    2013-05-01

    The aim of the present study was to investigate the chromosomal abnormalities and to identify the most prevalent or frequent type of chromosomal abnormalities in cases of amenorrhea from the southern region of India. A total of 637 cases with amenorrhea were analyzed using G- banding, C-banding, Silver staining, and fluorescence in situ hybridization was done wherever necessary. Out of the 637 cases involved in our study, 132 abnormalities were detected. The incidence of chromosomal abnormalities in cases with primary and secondary amenorrhea was around 20.7 %. In addition to the numerical anomalies, various structural aberrations of the X chromosome like deletions, isochromosomes, duplications, ring chromosome, and also male karyotype were detected. Review of the literature and overall incidence of chromosomal abnormalities in patients with amenorrhea suggests the need for cytogenetic analysis to be performed in all the cases referred for amenorrhea with or without short stature. Precise identification of chromosomal abnormalities helps in confirming the provisional diagnosis; it helps the secondary amenorrhea patients in assisted reproduction and to understand the clinical heterogeneity involved and in efficient genetic counseling.

  2. Karyotype and molecular cytogenetic studies in polycythemia vera.

    Science.gov (United States)

    Andrieux, Joris Loup; Demory, Jean Loup

    2005-05-01

    A minority of patients with newly diagnosed polycythemia vera (PV) have an abnormal karyotype in their myeloid cells but no invariant chromosomal aberration has been found. The most frequent visible alteration is a 20q deletion, also characterized in other myeloproliferative diseases (MPD) and myeloid malignancies; among other chromosomal changes, trisomy 9 appears more common in PV than in other MPDs. When a myelofibrosis complicates the course of the disease, cytogenetic anomalies become quite common with a striking frequency of partial duplication 1q; an evolution towards myelodysplasia or acute leukemia is almost always associated with nonspecific chromosomal aberrations. Modern cytogenetic methods have disclosed cryptic anomalies and pointed out the high frequency of 9p alterations affecting a restricted region, thus stimulating an active search for candidate genes or specific mutations.

  3. Abnormal brain MRI in a case of acute ataxia as the only sign of abdominal neuroblastoma

    International Nuclear Information System (INIS)

    Molla Mohammadi, M.; Karimzadeh, P.; Khatami, A.; Jadali, F.

    2010-01-01

    Ataxia is a movement disorder that may manifest an acute, intermittent, non progressive or chronic progressive course. Ataxia alone is rare as a para neoplastic sign, especially if it is due to neuroblastoma (abdominal or chest). We report an abdominal neuroblastoma in a two-year-old girl presenting with only acute ataxia and abnormal neuroimaging. Brain MRI showed abnormal signal finding in the medulla, pons, cortico spinal tract and the periventricular space. In the abdominal CT, a mass was detected in the right adrenal gland with calcification and the histopathologic examination re-vealed neuroblastoma. We suggest in children with acute ataxia, with or without opalescence-myoclonus, neuroblastoma should be considered.

  4. Structural abnormalities and persistent complaints after an ankle sprain are not associated: an observational case control study in primary care.

    Science.gov (United States)

    van Ochten, John M; Mos, Marinka C E; van Putte-Katier, Nienke; Oei, Edwin H G; Bindels, Patrick J E; Bierma-Zeinstra, Sita M A; van Middelkoop, Marienke

    2014-09-01

    Persistent complaints are very common after a lateral ankle sprain. To investigate possible associations between structural abnormalities on radiography and MRI, and persistent complaints after a lateral ankle sprain. Observational case control study on primary care patients in general practice. Patients were selected who had visited their GP with an ankle sprain 6-12 months before the study; all received a standardised questionnaire, underwent a physical examination, and radiography and MRI of the ankle. Patients with and without persistent complaints were compared regarding structural abnormalities found on radiography and MRI; analyses were adjusted for age, sex, and body mass index. Of the 206 included patients, 98 had persistent complaints and 108 did not. No significant differences were found in structural abnormalities between patients with and without persistent complaints. In both groups, however, many structural abnormalities were found on radiography in the talocrural joint (47.2% osteophytes and 45.1% osteoarthritis) and the talonavicular joint (36.5% sclerosis). On MRI, a high prevalence was found of bone oedema (33.8%) and osteophytes (39.5) in the talocrural joint; osteophytes (54.4%), sclerosis (47.2%), and osteoarthritis (55.4%, Kellgren and Lawrence grade >1) in the talonavicular joint, as well as ligament damage (16.4%) in the anterior talofibular ligament. The prevalence of structural abnormalities is high on radiography and MRI in patients presenting in general practice with a previous ankle sprain. There is no difference in structural abnormalities, however, between patients with and without persistent complaints. Using imaging only will not lead to diagnosis of the explicit reason for the persistent complaint. © British Journal of General Practice 2014.

  5. Structural abnormalities and persistent complaints after an ankle sprain are not associated: an observational case control study in primary care

    Science.gov (United States)

    van Ochten, John M; Mos, Marinka CE; van Putte-Katier, Nienke; Oei, Edwin HG; Bindels, Patrick JE; Bierma-Zeinstra, Sita MA; van Middelkoop, Marienke

    2014-01-01

    Background Persistent complaints are very common after a lateral ankle sprain. Aim To investigate possible associations between structural abnormalities on radiography and MRI, and persistent complaints after a lateral ankle sprain. Design and setting Observational case control study on primary care patients in general practice. Method Patients were selected who had visited their GP with an ankle sprain 6–12 months before the study; all received a standardised questionnaire, underwent a physical examination, and radiography and MRI of the ankle. Patients with and without persistent complaints were compared regarding structural abnormalities found on radiography and MRI; analyses were adjusted for age, sex, and body mass index. Results Of the 206 included patients, 98 had persistent complaints and 108 did not. No significant differences were found in structural abnormalities between patients with and without persistent complaints. In both groups, however, many structural abnormalities were found on radiography in the talocrural joint (47.2% osteophytes and 45.1% osteoarthritis) and the talonavicular joint (36.5% sclerosis). On MRI, a high prevalence was found of bone oedema (33.8%) and osteophytes (39.5) in the talocrural joint; osteophytes (54.4%), sclerosis (47.2%), and osteoarthritis (55.4%, Kellgren and Lawrence grade >1) in the talonavicular joint, as well as ligament damage (16.4%) in the anterior talofibular ligament. Conclusion The prevalence of structural abnormalities is high on radiography and MRI in patients presenting in general practice with a previous ankle sprain. There is no difference in structural abnormalities, however, between patients with and without persistent complaints. Using imaging only will not lead to diagnosis of the explicit reason for the persistent complaint. PMID:25179068

  6. Comparison of the karyotypes ofPsathyrostachys juncea andP. huashanica (Poaceae) studied by banding techniques

    DEFF Research Database (Denmark)

    Linde-Laursen, Ib; Bothmer, R. von

    1986-01-01

    The karyotypes of P. juncea (Elymus junceus) and P. huashanica (both outbreeders) were investigated by Feulgen-staining and by C-, N-, and Ag-banding, based on a single plant in each case. Both species have 2n = 2x = 14 and large chromosomes, possibly a generic character. The karyotype of P. juncea....... The patterns of both taxa are polymorphic, supporting that both taxa are outbreeders. The karyotypic characters suggest that P. juncea is more closely related to P. fragilis than either is to P. huashanica. N-banding stains weakly. Silver nitrate staining demonstrates that nucleolus organizers of both species...

  7. Karyotypes of Saccharomyces sensu lato species

    DEFF Research Database (Denmark)

    Petersen, Randi Føns; Nilsson-Tilgren, Torsten; Piskur, Jure

    1999-01-01

    and Saccharomyces unisporus, 16 in Saccharomyces exiguus and seven in Saccharomyces kluyveri. The sizes of individual chromosomes were resolved and the approximate genome sizes were determined by the addition of individual chromosomes of the karyotypes. Apparently. the genome of S. exiguus, which is the only...... Saccharomyces sensu late yeast to contain small chromosomes, is larger than that of Saccharomyces cerevisiae. On the other hand, other species exhibited genome sizes that were 10-25% smaller than that of S. cerevisiae. Well-defined karyotypes represent the basis for future genome mapping and sequencing projects...

  8. A new karyotype of Calomys (Rodentia, Sigmodontinae

    Directory of Open Access Journals (Sweden)

    Lima J. Fernando de S.

    2001-01-01

    Full Text Available The genus Calomys Waterhouse, 1837 is widely distributed within South America, being found in Venezuela, Colombia, Peru, Bolivia, Brazil, Paraguay, Uruguay and Argentina. Specimens of Calomys were collected in Formoso do Araguaia, Tocantins, Brazil. For chromosome characterization standard staining techniques and as G-banding and nucleolar organizer region were used. The karyotype was 2n=46 and AN=66. The X chromosome is a medium metacentric and the Y chromosome a small acrocentric chromosome. Chromosome homologies with other species were observed. Probably, karyotype differences were basically due to Robertsonian rearrangements.

  9. Absent cervical spine pedicle and associated congenital spinal abnormalities - a diagnostic trap in a setting of acute trauma: case report.

    Science.gov (United States)

    Guggenberger, Roman; Andreisek, Gustav; Scheffel, Hans; Wildermuth, Simon; Leschka, Sebastian; Stolzmann, Paul

    2010-11-09

    Congenital spinal abnormalities can easily be misdiagnosed on plain radiographs. Additional imaging is warranted in doubtful cases, especially in a setting of acute trauma. This patient presented at the emergency unit of our university hospital after a motor vehicle accident and was sent to our radiology department for imaging of the cervical spine. Initial clinical examination and plain radiographs of the cervical spine were performed but not conclusive. Additional CT of the neck helped establish the right diagnosis. CT as a three-dimensional imaging modality with the possibility of multiplanar reconstructions allows for the exact diagnosis and exclusion of acute traumatic lesions of the cervical spine, especially in cases of doubtful plain radiographs and when congenital spinal abnormalities like absent cervical spine pedicle with associated spina bifida may insinuate severe trauma.

  10. Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: the crucial importance of detailed cardiovascular screening.

    Science.gov (United States)

    Klásková, Eva; Zapletalová, Jiřina; Kaprálová, Sabina; Šnajderová, Marta; Lebl, Jan; Tüdös, Zbyněk; Pavlíček, Jan; Černá, Jana; Mihál, Vladimír; Stará, Veronika; Procházka, Martin

    2017-03-01

    Bicuspid aortic valve (BAV) represents one of the strongest risk factors for aortic dissection in Turner syndrome (TS). An exact relation between the occurrence of BAV and a particular karyotype has not been established yet. The aim of this study was to determine the association between karyotype and prevalence of BAV. Sixty-seven TS patients aged between 6.6 and 32.5 years underwent cardiac magnetic resonance imaging (MRI) study. They were divided into four cytogenetic subgroups-45,X karyotype (n=27); 45,X/46,XX mosaicism (n=17); structural abnormalities of the X chromosome (n=10); and 45,X/structural abnormality of the X chromosome mosaicism (n=13). Prevalence of BAV and odds ratio (OR) compared with the general population in the whole study group, and statistical comparison of prevalences of BAV among the individual subgroups were determined. Prevalence of BAV in the whole study group was established as 28.4% [OR 208.3 (95% CI - 103.8-418.0); p-valuekaryotype had the highest prevalence of BAV - 40.7%, p-valuekaryotype significantly predisposed to BAV (p-value=0.05). The 45,X karyotype is associated with the highest prevalence of BAV. Also, the presence of the 45,X cell line in any mosaic karyotype increases the probability of BAV.

  11. Association of loss of heterozygosity with cytogenetic abnormalities in acute myeloid leukemia and myelodysplastic syndrome

    Directory of Open Access Journals (Sweden)

    R.F. Pinheiro

    2008-07-01

    Full Text Available Deletions on chromosomes 5 and 7 are frequently seen in myelodysplastic syndrome (MDS and acute myeloid leukemia (AML. It is assumed that these deletions indicate loss of tumor suppressor genes on these chromosomes and until these tumor suppressor genes are identified, the functional consequences of these deletions and the molecular basis of these myeloid disorders cannot be completely understood. We evaluated loss of heterozygosity (LOH in 44 patients (18 MDS and 26 AML, diagnosed according to WHO classification criteria at diagnosis, using a four-microsatellite marker panel: an intragenic marker on the 7th intron of gene IRF-1 of the 5q31.1 region and three markers located inside the 7q31.1 region and correlated the LOH with karyotype abnormalities. The microsatellites chosen corresponded to chromosome regions frequently deleted in MDS/AML. The samples with Q (peak area less than or equal to 0.50 were indicative of LOH. The percent of informative samples (i.e., heterozygous for the intragenic microsatellite in gene IRF-1 and in loci D7S486, D7S515 and D7S522 were 66.6, 73.7, 75.5, and 48.8%, respectively. Cytogenetic abnormalities by G-banding were found in 36% (16/44 of the patients (2 of 18 MDS and 14 of 26 AML patients. We found a significantly positive association of the occurrence of LOH with abnormal karyotype (P < 0.05; chi-square test and there were cases with LOH but the karyotype was normal (by G-banding. These data indicate that LOH in different microsatellite markers is possibly an event previous to chromosomal abnormalities in these myeloid neoplasias.

  12. At the heart of primary progressive multiple sclerosis: three cases with diffuse MRI abnormalities only

    NARCIS (Netherlands)

    Zwemmer, J.N.P.; Bot, J.C.J.; Jelles, B.; Barkhof, F.; Polman, C.H.

    2008-01-01

    We present three patients with a clinical course and cerebrospinal fluid findings consistent with a diagnosis of primary progressive multiple sclerosis (PPMS). Extensive and repeated magnetic resonance imaging (MRI) examinations showed only diffuse abnormality in brain and spinal cord, but no focal

  13. Case of Ehlers-Danlos syndrome associated with abnormal cranial CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Hagino, Hiroshi; Sugitani, Akitoshi (Matsue Seishi Gakuen, Shimane (Japan)); Eda, Isematsu; Takakura, Hiroki

    1984-01-01

    A 16-year-old girl having typical Ehlers-Danlos syndrome was reported. In this patient, although there were no specific neurological findings, cranial CT scanning revealed marked dilation and deformation of the whole forth ventricle, dilation of the superior cerebellar cistern, and the dilation and deformation of the quadrigeminal cistern and circumvolute cistern, suggesting morphological abnormalities of the vermian region.

  14. Risk factors of thyroid abnormalities in bipolar patients receiving lithium: a case control study

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    Dehpour Ahmad Reza

    2003-05-01

    Full Text Available Abstract Background Lithium-induced thyroid abnormalities have been documented in many studies. They may occur despite normal plasma lithium levels. The objectives of this study were: 1 to determine possible relationship between lithium ratio, defined as erythrocyte lithium concentrations divided by plasma lithium concentrations, and thyroid abnormalities in bipolar patients receiving lithium and 2 to find other possible risk factors for developing thyroid abnormalities in the subjects. Methods Sixty-eight bipolar patients receiving lithium therapy were enrolled in a cross-sectional evaluation of thyroid function test and thyroid size. Patients were divided into two groups based on their thyroid function tests and thyroid sizes. Erythrocyte and plasma lithium concentrations were determined by atomic absorption spectrometry for each patient. Lithium ratio was then calculated. Results No significant differences were found between age, positive family history of affective disorder, plasma lithium concentration, erythrocyte lithium concentration, and lithium ratio comparing the two groups. Thyroid abnormalities was significantly higher in women than in men (p Conclusions Lithium ratio does not appear to have a predictive role for thyroidal side effects of lithium therapy. Female gender was the main risk factor. We suggest more frequent thyroid evaluation of bipolar women who are treated with lithium.

  15. Case report of an unusual heart abnormality in Rainbow trout (Oncorhynchus mykiss)

    Science.gov (United States)

    An unusual heart abnormality in rainbow trout Oncorhynchus mykiss was recently observed. During the course of a standard hydrogen peroxide treatment (100 ppm) of production rainbow trout (mean weight, 2-3 g) affected with an external bacterial infection, a small percentage of fish exhibited morbidi...

  16. Inflammatory Cytokines in Maternal Circulation and Placenta of Chromosomally Abnormal First Trimester Miscarriages

    Directory of Open Access Journals (Sweden)

    Jean Calleja-Agius

    2012-01-01

    Full Text Available The impact of abnormal placental karyotype on the inflammatory response within the villous tissue and peripheral circulation of women with miscarriage was evaluated. Villous (=38 and venous blood samples (=26 were obtained from women with missed miscarriage. Tissue chromosome analysis indicated 23 abnormal and 15 normal karyotypes. Concentration of tumour necrosis factor alpha (TNF, TNF-R1 and TNF-R2, and interleukin (IL-10 were measured using flowcytometric bead array in fresh villous homogenate, cultured villous extracts, culture medium, maternal whole blood, and plasma. Plasma TNF/IL-10 ratios were significantly (<0.05 lower in miscarriages with abnormal karyotype. In the abnormal karyotype group, there were significantly higher levels of TNF (<0.01, IL-10 (<0.01, TNF-R1 (<0.001, and TNF-R2 (<0.001 in the villous extracts and culture-conditioned medium compared to normal karyotype group. In miscarriage with abnormal karyotype, there is an exacerbated placental inflammatory response, in contrast to miscarriage of normal karyotype where maternal systemic response is increased.

  17. A first case of primary amenorrhea with i(X(qter---q10::---qter, rob(13;14(q10;q10, inv(9(p13q33 karyotype

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    Seema Korgaonkar

    2011-01-01

    Full Text Available Primary amenorrhea (PA refers to the absence of menarche by the age of 16-18 years although secondary sexual characters are developed. PA occurs in 1-3% of women in the reproductive age group. Various factors such as anatomical, genetic and hormonal factors reported to influence PA. We report triple chromosomal abnormalities of rob(13;14(q10;q10,inv(9(p13q33, i(Xq(qter---q10::---qter in a case of PA and short stature. Though proband has multiple chromosome aberrations, genotypic effect of only i(Xq is evident as proband has PA and short stature. The rob(13;14 and inv(9, which are paternally derived may have role in later reproductive age. Therefore, chromosomal analysis is essential in such cases for the accurate diagnosis and management of the disease.

  18. Childhood physical abnormalities following paternal exposure to sulfur mustard gas in Iran: a case-control study

    Directory of Open Access Journals (Sweden)

    Khademolhosseini Seyyed M

    2010-07-01

    Full Text Available Abstract Background Mustard gas, a known chemical weapon, was used during the Iran-Iraq war of 1980-1988. We aimed to determine if exposure to mustard gas among men was significantly associated with abnormalities and disorders among progenies. Methods Using a case-control design, we identified all progenies of Sardasht men (exposed group, n = 498, who were born at least nine months after the exposure, compared to age-matched controls in Rabat, a nearby city (non-exposed group, n = 689. We conducted a thorough medical history, physical examination, and appropriate paraclinical studies to detect any physical abnormality and/or disorder. Given the presence of correlated data, we applied Generalized Estimating Equation (GEE multivariable models to determine associations. Results The overall frequency of detected physical abnormalities and disorders was significantly higher in the exposed group (19% vs. 11%, Odds Ratio [OR] 1.93, 95% Confidence Interval [CI], 1.37-2.72, P = 0.0002. This was consistent across sexes. Congenital anomalies (OR 3.54, 95% CI, 1.58-7.93, P = 0.002 and asthma (OR, 3.12, 95% CI, 1.43-6.80, P = 0.004 were most commonly associated with exposure. No single abnormality was associated with paternal exposure to mustard gas. Conclusion Our study demonstrates a generational effect of exposure to mustard gas. The lasting effects of mustard gas exposure in parents effects fertility and may impact child health and development in the long-term.

  19. Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report

    Directory of Open Access Journals (Sweden)

    Hamid Ahmed B

    2010-08-01

    Full Text Available Abstract Introduction Small supernumerary marker chromosomes are still a problem in cytogenetic diagnostic and genetic counseling. This holds especially true for the rare cases with multiple small supernumerary marker chromosomes. Most such cases are reported to be clinically severely affected due to the chromosomal imbalances induced by the presence of small supernumerary marker chromosomes. Here we report the first case of a patient having four different small supernumerary marker chromosomes which, apart from slight developmental retardation in youth and non-malignant hyperpigmentation, presented no other clinical signs. Case presentation Our patient was a 30-year-old Caucasian man, delivered by caesarean section because of macrosomy. At birth he presented with bilateral cryptorchidism but no other birth defects. At age of around two years he showed psychomotor delay and a bilateral convergent strabismus. Later he had slight learning difficulties, with normal social behavior and now lives an independent life as an adult. Apart from hypogenitalism, he has multiple hyperpigmented nevi all over his body, short feet with pes cavus and claw toes. At age of 30 years, cytogenetic and molecular cytogenetic analysis revealed a karyotype of 50,XY,+min(6(:p11.1-> q11.1:,+min(8(:p11.1->q11.1:,+min(11(:p11.11->q11:,+min(12(:p11.2~12->q10:, leading overall to a small partial trisomy in 12p11.1~12.1. Conclusions Including this case, four single case reports are available in the literature with a karyotype 50,XN,+4mar. For prenatally detected multiple small supernumerary marker chromosomes in particular we learn from this case that such a cytogenetic condition may be correlated with a positive clinical outcome.

  20. Variation of electrophoretic karyotypes among Naegleria spp.

    Science.gov (United States)

    De Jonckheere, J F

    1989-01-01

    All species and subspecies of the genus Naegleria were subjected to karyotype analysis by contour-clamped homogeneous electric field and transverse alternating-field electrophoresis. The former technique proved to be superior in detecting differences in karyotype. The chromosome pattern of each species and subspecies was found to be distinct. Between 15 and 23 bands were resolved, with chromosome sizes ranging from a few hundred kilobases to about 1.5 Mb. Hybridisation with cloned rDNA identified one band in all species, corresponding to the rDNA plasmid that does not migrate according to its molecular weight because it is circular. In Willaertia magna a similar size distribution was found, in contrast to Giardia and Entamoeba, which have only very large chromosomes. Within the pathogenic N. fowleri some strains showed slight differences in chromosome pattern. The karyotype differed more between strains within the subspecies N. and andersoni than between the two species N. fowleri and N. lovaniensis. The results suggest that karyotype analysis cannot be used to identify a Naegleria species but is useful for stock identification, gene localisation, genetic exchange studies and epidemiological investigation of the pathogenic N. fowleri.

  1. Karyotypes of Saccharomyces sensu lato species

    DEFF Research Database (Denmark)

    Petersen, Randi Føns; Nilsson-Tilgren, Torsten; Piskur, Jure

    1999-01-01

    Saccharomyces sensu late yeast to contain small chromosomes, is larger than that of Saccharomyces cerevisiae. On the other hand, other species exhibited genome sizes that were 10-25% smaller than that of S. cerevisiae. Well-defined karyotypes represent the basis for future genome mapping and sequencing projects......, as well as studies of the origin of the modern genomes....

  2. Karyotype of Rhodnius montenegrensis (Hemiptera, Triatominae).

    Science.gov (United States)

    Alevi, K C C; Ravazi, A; Mendonça, V J; Rosa, J A; Azeredo-Oliveira, M T V

    2015-01-16

    The Triatominae subfamily comprises 6 tribes. The tribe Rhodniini comprises 2 genera and 22 nominal species. Rhodnius montenegrensis (Hemiptera, Triatominae) was recently described as evolutionarily related to R. robustus. Therefore, in order to contribute to karyosystematic study of the tribe Rhodniini, this report describes the number of chromosomes and compares the karyotype of R. montenegrensis to that of all other species in the tribe, in order to determine the karyotypic evolution of the tribe Rhodniini. The seminiferous tubules of adult males, after being removed and fixated on a cover slip, were processed with lacto-aceto-orcein for cytogenetic analysis. R. montenegrensis, as well as all other species of the tribe Rhodniini showed 22 chromosomes (20 autosomes + XY). Thus, we hereby describe the karyotype of the species R. montenegrensis and mainly highlight that the tribe Rhodniini displays karyotypic homogeneity, demonstrating itself as a derived group to a lesser extent when compared to the number of chromosomes of the common ancestors of the subfamily Triatominae.

  3. Screening for fetal chromosome abnormalities during the second trimester

    International Nuclear Information System (INIS)

    Dong Hui; Li Ming; Li Ping

    2005-01-01

    Objective: To develop a pre -natal screening program for fetal chromosome abnormalities based on risk values calculated from maternal serum markers levels during the second trimester. Methods: Serum levels of AFP, β-HCG, uE 3 were determined with CLIA in 1048 pregnant women during 14-21w gestation period and the results were analyzed with a specific software (screening program for Down' s syndrome developed by Beckman) for the risk rate. In those women defined as being of high risk rate, cells from amniotic fluid or umbilical cord blood were studied for karyotype analysis. Results: Of these 1048 women, 77 were designated as being of high risk rate for several chromosome abnormalities i.e. Down's syndrome, open spina bifida and trisomy -18 syndrome (overall positive rate 7.3%). Further fetal chromosome study in 31 of them revealed three proven cases of abnormality. Another cord blood study was performed in a calculated low risk rate case but with abnormal sonographic finding at 31 w gestation and proved to be abnormal (software study false negative). The remaining 46 high risk rate cases either refused future study (n=35) or were lost for follow-up (n=11). Fortunately, all the 35 women refused further study gave birth to normal babies without any chromosome abnormalities discovered on peripheral blood study. Besides, in a trial study, five high risk rate women were again evaluated a few weeks later but with tremendous difference between the results. Conclusion: The present program proves to be clinically useful but needs further study and revision. Many factors may influence the result of the analysis and the duration of gestation period in weeks should be as accurate as possible. At present, in order to avoid getting false negatives, we don't advise a second check in 'high risk' cases. (authors)

  4. Morphological study of Pipelle biopsy specimens in cases of abnormal uterine bleeding.

    Science.gov (United States)

    Khadim, Muhammad Tahir; Zehra, Talat; Ashraf, Hafiz Murtuza

    2015-07-01

    To determine the frequencies of common morphological patterns of abnormal uterine bleeding on Pipelle biopsy specimen. The cross-sectional study was conducted at PNS Shifa Hospital, Karachi, and comprised endometrial Pipelle biopsies of patients with abnormal uterine bleeding received between January 2013 and January 2014. Patient's age, marital status, parity and histopatholgical spectrum were recorded. SPSS 17 was used for data analysis. Of the 101 patients, 53(52.50%) presented with proliferative endometrium, 22(21.80%) had secretory endometrium, 13(12.9%) presented with chronic non-specific endometritis, 8(7.9%) had endometrial hyperplasia without atypia, and 5(5%) had endometrial hyperplasia with atypia. Besides, 86(85.1 %) were nulliparous; 15(14.9%) were parous; 92(91.1%) were married and 9(8.9%) were unmarried. The most common morphological pattern was proliferative endometrium. Though Pipelle has its own limitations, it performed better when endometrial pathology was global rather than focal.

  5. Nonimmunologic fetal hydrops and chromosomal disorder : two cases of Down syndrome associated with hematopoietic abnormalities

    OpenAIRE

    Masue, Michiya; Miyamoto, Satomi; Inoue, Makoto; Haneda, Noriyuki; Hata, Toshiyuki; Miyazaki, Kohji; Nagasaki, Makoto; Morikawa, Shigeru; Yamaguchi, Seiji

    1997-01-01

    We investigated 6 neonates with nonimmunologic fetal hydrops admitted to Shimane Medical University Hospital between 1979 and 1996. Chromosome analysis revealed that two of these neonates (33%) had trisomy 21 (Down syndrome). Our data may suggest the importance of chromosomal analysis of the fetus and the neonate with nonimmunologic fetal hydrops. It was revealed that each of the two neonates with Down syndrome had hematopoietic disorders including pancytopenia and transient abnormal myelopoi...

  6. PRENATAL DIAGNOSIS AND SCREENING OF GENETIC ABNORMALITIES IN EARLY PREGNANCY

    Directory of Open Access Journals (Sweden)

    Jyothi Kiran Kohli

    2016-11-01

    Full Text Available BACKGROUND Genetic diseases are one of the major causes of hospital admissions due to disability and mortality particularly among children (1:5 children of hospital admission either partially/completely as distribution of genetic diseases is not related to socioeconomic background, which implies that developing world has a large number of genetic diseases largely left uncared for, i.e. overall incidence of foetal/neonatal loss due to genetic/genetic environmental causes are as follows: 1:50 newborns have major congenital abnormality, 1:100 have a unifactorial disorder, 1:200 have a major chromosomal abnormality before birth. Diagnosis of chromosomal anomalies in foetus is one of the most important challenges in modern perinatology as invasive or noninvasive methods. The aim of the study is to review on cytogenetic evaluation of CVS obtained (transcervically during first trimester of pregnancy by direct karyotyping of tissue. MATERIALS AND METHODS This study was conducted in 2001 in Department of Anatomy along with Obstetrics and Gynaecology Department, LNJP Hospital. 37 healthy cases with 6-12 weeks of gestational age coming for medical termination of pregnancy were included in the study. After written informed consent for procedure, ultrasound-guided transcervical chorionic villus sampling was done (Brambati’s method. Tissue procured was then processed for direct karyotyping and studied. Metaphase spreads were photographed and karyotypes prepared and studied. RESULTS Out of 37 pregnant females, 30 samples were successfully prepared and processed by Direct method out of which 23 were normal female (46, XX and 7 were normal male (46, XY. No normal anomaly was detected. Best biopsies were obtained with 8-12 weeks gestation. G Banding could not be performed as chromosome obtained were found to be resistant to banding. CONCLUSIONS To summarise chromosome preparations obtained from CVS by Direct method has advantage of providing sufficient number

  7. Case of bronchogenic cyst showing cardiac abnormalities diagnosed by reconstruction CT prior to surgery

    Energy Technology Data Exchange (ETDEWEB)

    Fujita, Naoya; Tosaka, Masako; Io, Noriko

    1985-03-01

    A 30-year-old man began to experience palpitation, chest pain and fever 3 weeks prior to admission. An electrocardiogram showed evidence suggestive of left atrial overloading, and frequent atrial premature beats. A chest roentgenogram revealed an abnormal shadow behind the right upper portion of the heart. A cross-sectional echocardiogram demonstrated abnormal echoes with ill-defined margins in the left atrium and a picture of Computed Tomography (CT) was thought to show a left atrial tumor. However left atriography suggested it to be an extracardiac tumor which was compressing the left atrium. Therefore, reconstruction CT was performed and with the use of high CT numbers, the cyst was considered to be subcarinal in position. The CT also showed a calcified mass which was mobile within the cyst. At thoracotomy, an 6 x 3 cm cyst was removed completely and a diagnosis of bronchogenic cyst was established histopathologically. In this report, ECG abnormalities suggestive of left atrial damage and the diagnostic usefulness of reconstruction CT are stressed. (author).

  8. Subjective Visual Vertical and Horizontal Abnormalities in a Patient with Lateral Medullary Syndrome-A Case Report

    Directory of Open Access Journals (Sweden)

    Amit Tyagi

    2015-01-01

    Full Text Available Introduction: Evaluation of persistent vertigo in post infarct patients is very important as the management depends on whether the cause is purely of central origin or due to associated vestibular affliction.   Case Report: A patient with left sided dorsolateral medullary syndrome and persistent vestibular symptoms was evaluated. Vestibular test battery showed abnormal smooth pursuit, bilateral hyperactive caloric responses, and abnormal dynamic subjective visual vertical and dynamic subjective visual horizontal tests.   Conclusion:  Dorsolateral medullary infarctions (Wallenberg’s syndrome typically cause a central vestibular tonus imbalance in the roll plane with ipsilateral deviations of perceived vertical orientation. The SVV and SVH tests may have a role in localizing the pathology in a patient with lateral medullary syndrome.

  9. Female genital mutilation of a karyotypic male presenting as a female with delayed puberty

    Directory of Open Access Journals (Sweden)

    Gisselsson D

    2006-03-01

    Full Text Available Abstract Background Female genital mutilation (FGM is commonly practiced mainly in a belt reaching from East to West Africa north of the equator. The practice is known across socio-economic classes and among different ethnic, religious, and cultural groups. Few studies have been appropriately designed to measure the health effects of FGM. However, the outcome of FGM on intersex individuals has never been discussed before. Case presentation The patient first presented as a female with delayed puberty. Hormonal analysis revealed a normal serum prolactin level of 215 Mu/L, a low FSH of 0.5 Mu/L, and a low LH of 1.1 Mu/L. Type IV FGM (Pharaonic circumcision had been performed during childhood. Chromosomal analysis showed a 46, XY karyotype and ultrasonography verified a soft tissue structure in the position of the prostate. Conclusion FGM pose a threat to the diagnosis and management of children with abnormal genital development in the Sudan and similar societies.

  10. Salivary abnormalities in Prader-Willi Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hart, S.; Poshva, C. [Bowman Gray School of Medicine, Winston-Salem, NC (United States)

    1994-09-01

    Although abnormal saliva is a well documented finding in PWS, little is known about the saliva in these individuals. We have recently undertaken a study to characterize the salivary composition from PW patients and to see if there is any correlation with their underlying molecular diagnosis (deletion vs. disomy). We have collected whole saliva on 3 patients; 2 had normal high-resolution karyotype analysis (Cases 1 & 3) and 1 had a deletion of 15q11q13 (Case 3). For all parameters, Case 3`s values were notably different from those of his unaffected sibling. The salivary flow rates and concentrations for all 3 PW patients are similar and are significantly different from normal controls (mean {plus_minus} SE) (p<0.05). Although this data is from only 3 PW patients, it provides valuable information. First, decreased flow appears to be due to an effect of PWS and not medications since Cases 2 & 3 are not on any medications. Second, decreased flow appears to be present in younger as well as older individuals. Third, deviations from normal in the salivary composition are evident. It is possible that these alterations are concentration effects relative to a decrease in flow rate. We are currently obtaining saliva from more PW individuals to see if these alterations are present in all PW patients and whether they can be applied as a screening test.

  11. Müllerian Agenesis in Cat Eye Syndrome and 22q11 Chromosome Abnormalities: A Case Report and Literature Review.

    Science.gov (United States)

    AlSubaihin, Abdulmajeed; VanderMeulen, John; Harris, Kate; Duck, John; McCready, Elizabeth

    2018-04-01

    Although Müllerian agenesis is the second most common cause of primary amenorrhea the underlying etiology in most cases is unknown. Müllerian agenesis has been reported as a rare finding associated with chromosomal aberrations of the 22q11 chromosomal region including at least 1 individual with cat eye syndrome (CES) and 10 individuals with deletions or duplications of the 22q11.2 region. However, a potential link between 22q11 abnormalities and uterine malformations has been difficult to adequately ascertain because of the limited case reports in the literature. We report a second case of Müllerian agenesis in a girl with CES. A 16-year-old girl presented with bilateral colobomata, primary amenorrhea, and absence of the uterus and upper vagina on pelvic magnetic resonance imaging. Microarray analysis showed tetrasomy of the pericentromeric region of chromosome 22 diagnostic of CES. Müllerian aplasia/hypoplasia might represent a rare feature in CES and should be considered in the investigation of young girls with this syndrome. An increasing number of cases with 22q11 chromosome abnormalities and Müllerian agenesis further highlights the possibility of a gene within the 22q11 region that might mediate normal Müllerian development in girls. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  12. No Relation between Psoriasis and Renal Abnormalities: A Case-Control Study

    Directory of Open Access Journals (Sweden)

    Zohreh Tehranchinia

    2018-01-01

    Full Text Available Multiple observational studies have demonstrated that psoriasis is associated with nephropathy; however, the renal involvement in psoriasis remains largely a matter of debate. The current study was designed to investigate if psoriatic patients are at increased risk of renal abnormalities, in absence of any other comorbidities. Forty patients (11 women, 29 men, mean age 44.9 ± 15.45 years with moderate to severe chronic plaque type psoriasis who were not under systemic therapy and 40 age- and gender-matched control subjects were enrolled in the study. Patients and controls with history of diabetes, hypertension, and chronic renal disease were excluded. Urinalysis by dipstick and microscopic evaluation and 24 h proteinuria and albuminuria were measured in all patients and controls. Patients with psoriasis and controls were not significantly different with respect to the prevalence of abnormal urinalysis (7.5% versus 5%, P = 1.0, mean 24 h proteinuria (70.40 ± 24.38 mg/24 h versus 89.40 ± 26.78 mg/24 h, P = 0.30, and albuminuria (14.15 ± 8.12 mg/24 h versus 16.62 ± 8.21 mg/24 h, P = 0.18. The presence of abnormal urinalysis was not more common in patients with psoriasis than in controls. Our study demonstrated that psoriatic patients without any other comorbidities are not at increased risk of kidney disease.

  13. Sensory cognitive abnormalities of pain in autism spectrum disorder: a case-control study.

    Science.gov (United States)

    Yasuda, Yuka; Hashimoto, Ryota; Nakae, Aya; Kang, Hongling; Ohi, Kazutaka; Yamamori, Hidenaga; Fujimoto, Michiko; Hagihira, Satoshi; Takeda, Masatoshi

    2016-01-01

    The Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) recently included sensory processing abnormalities in the diagnostic criteria for individuals with autism spectrum disorder (ASD). However, there is no standard method for evaluating sensory abnormalities in individuals with ASD. Fifteen individuals with ASD and 15 age- and sex-matched controls were enrolled in this study. We compared objective pain sensitivity by measuring the pain detection threshold and pain tolerance to three different stimuli (electricity, heat, and cold). Then, we compared both subjective pain sensitivity, assessed by the visual analog scale (VAS), and quality of pain, assessed by the short-form McGill Pain Questionnaire (SF-MPQ), to determine the maximum tolerable pain intensities of each stimulation. The pain detection threshold and pain tolerance of individuals with ASD were not impaired, indicating that there were no differences in the somatic perception of pain between groups. However, individuals with ASD were hyposensitive to subjective pain intensity compared to controls (VAS; electrical: p = 0.044, cold: p = 0.011, heat: p = 0.042) and hyposensitive to affective aspects of pain sensitivity (SF-MPQ; electrical: p = 0.0071, cold: p = 0.042). Our results suggest that the cognitive pathways for pain processing are impaired in ASD and, furthermore, that our methodology can be used to assess pain sensitivity in individuals with ASD. Further investigations into sensory abnormalities in individuals with ASD are needed to clarify the pathophysiologic processes that may alter sensory processing in this disorder.

  14. Clinical case of acute myeloblastic leukemia with t(8;21(q22;q22 in a patient with Klinefelter’s syndrome

    Directory of Open Access Journals (Sweden)

    Vanya Slavcheva

    2010-12-01

    Full Text Available Klinefelter’s syndrome is characterized by abnormal karyotype 47, XXY and a phenotype associated with hypogonadism and gynecomastia. Often the disease can be diagnosed accidentally, when carrying out cytogenetic analysis in cases of a malignant blood disease. We present the clinical case of a patient diagnosed with acute myelomonoblastic leukemia- M4 Eo (AML- M4, where by means of classic cytogenetics a karyotype was found corre-sponding to Klinefelter’s syndrome. Three induction courses of polychemotherapy wermade, which led to remission of the disease, documented both flowcytometrically and cytogenetically.

  15. [Expression of CD25 in Acute Myeloid Leukemia Is An Adverse Prognostic Factor Independent of the Chromosome Karyotype].

    Science.gov (United States)

    Liu, Yan-Fang; Dong, Li; Wang, Chong; Sun, Hui; Zhang, Qiu-Tang; Wang, Meng; Li, Tao; Xu, Yan; Ma, Jie; Xie, Xin-Sheng; Sun, Ling; Wan, Ding-Ming

    2016-04-01

    To investigate the CD25 expression in patients with acute myeloid leukemia (AML) and its significance. Clinical data of 168 newly diagnosed AML patients (except APL) were collected. The expression of CD25 in AML patients and its clinical characteristics were retrospectively analyzed. The leukemia cells of 29 out of 168 cases (17.26%) expressed CD25 antigen. Most of CD25 positive AML patients were occurred in patients with unfavourable or normal karyotype, higher WBC and Plt count at diagnosis and higher percentage of blasts in peripheral blood and bone marrow. Compared with CD25(-) AML patients, CD25(+) AML patients had lower CR rate (the CR rate of 1 course of treatment were 49.02% and 16.00%, respectively, P karyotype were not significantly different from that in patients with intermediate karyotype (P karyotype in terms of low complete remission rate and short survival time.

  16. Osteoclast abnormalities in fractured bone during bisphosphonate treatment for osteoporosis: a case report.

    Science.gov (United States)

    Vigorita, V J V; Silver, J S; Eisemon, E O E

    2012-07-01

    Bisphosphonates have been widely used in the treatment of an array of bone disorders. Recent complications have included unusual femoral fractures in patients who have received long term bisphosphonate treatment for osteoporosis. Although it has been shown that bisphosphonates are effective by blunting osteoclast resorption, there has been little morphologic description of the local tissue activity at the site of these unusual fractures. To evaluate for local changes to bone morphology at the fracture site in patients presenting with a bisphosphonate-related femur fracture, a sample of cortical bone was obtained at the site of a bisphosphonate fracture and was processed in a nondecalcified manner. The specimen was evaluated for potential cellular changes consistent with bisphosphonate treatment. Significant osteoclast abnormalities at the fracture site were found in a 69-year-old woman treated for 2 years with Fosamax substantiating that bone remodeling at this site is distinctly abnormal. Addressing the osteoclast dysfunction should be a focus of future therapeutic attention and intervention.

  17. Hepatosplenomegaly Associated with Transient Abnormal Myelopoiesis in Down Syndrome: An Autopsy Case of a Stillborn Fetus

    Directory of Open Access Journals (Sweden)

    Michiko Yuki

    2015-06-01

    Full Text Available A 38-year-old primiparous mother (gravida 1, para 0 at 27 weeks and 6 days' gestation reported that fetal movements had been absent for 6 days. All serological markers for infection were negative. Chorionic villus sampling at stillbirth delivery revealed trisomy 21 (47, XX, +21, indicative of Down syndrome. The macerated baby was female and weighed 1,290 g. There was no evidence of hydrops fetalis. Proliferating blast cells expressing megakaryoblastic/megakaryocytic antigen CD61 were mainly seen within the vessels, and some cells infiltrated outside of the vessels in almost all organs. Vessels of the umbilical cord and chorionic villi were filled with proliferating blast cells, but the blast cells were not apparent in the bone marrow. The diagnosis of transient abnormal myelopoiesis in Down syndrome was made. Hepatomegaly (64.5 g was due to congestion and infiltration of CD61-positive blast cells within the vascular lumina and expanding outside the lumina accompanied by fibrotic change. The cause of death was attributed to liver insufficiency caused by liver fibrosis. An umbilical cord and chorionic villi examination may be helpful in the diagnosis of transient abnormal myelopoiesis when post-mortem examination is not permitted.

  18. Double trisomy (XXX+21 karyotype) in a six-year-old girl with down ...

    Indian Academy of Sciences (India)

    LAURA DANIELA VERGARA-MENDEZ

    2018-03-19

    Mar 19, 2018 ... Journal of Genetics, Vol. 97, No. 1, March 2018, pp. ... Two previous karyotype studies showed 47, XXX, +21 anomalies. This double trisomy is a rare condition described in isolated cases in the literature and none of these refers to the developmental aspects of these children. (Balwan et al. 2008; Li et al.

  19. [Rapid karyotyping in the 2nd and 3rd trimester: results and experiences].

    Science.gov (United States)

    Claussen, U; Voigt, H J; Ulmer, R; Beinder, E

    1995-01-01

    Rapid karyotyping in the second and third trimester is an increasing field of collaboration between women's hospitals and human genetics. Techniques available for rapid karyotyping are: 1. Amniocentesis; to obtain amniotic fluid cells for culturing and subsequent chromosome harvesting using the pipette method or the "in situ" technique. The average time between preparation of the amniotic fluid and the verbal notification of the analysed karyotype is 4.65 days for the pipette method and 5.97 days for the "in situ" technique. The major advantages are that amniocentesis can be handled safely by many gynaecologist, and the amniotic fluid samples can be posted easily to cytogenetic units familiar with rapid karyotyping. The main disadvantage is that currently only a few laboratories are able to handle the pipette method or the "in situ" technique for rapid karyotyping. 2. Fetal blood sampling (cordocentesis); and subsequent chromosome analysis on cultivated fetal lymphocytes leading to results within 2 to 4 days. The main advantage of this procedure is the reliability of the results obtained. Fetal blood sampling, however, is restricted to specialists; this may involve scheduling delays. 3. Placental biopsy; with subsequent direct preparation and long term culturing. In comparison to both other techniques this procedure is faster if direct preparation is used. Results can be obtained even on the same day. The main disadvantage, however, is the problem with the reliability of the direct preparation results. They must be confirmed by time-consuming long-term culturing. Data are presented on the likelihood of abnormal ultrasound findings being caused by chromosomal aberrations.(ABSTRACT TRUNCATED AT 250 WORDS)

  20. Automated identification of abnormal metaphase chromosome cells for the detection of chronic myeloid leukemia using microscopic images

    Science.gov (United States)

    Wang, Xingwei; Zheng, Bin; Li, Shibo; Mulvihill, John J.; Chen, Xiaodong; Liu, Hong

    2010-07-01

    Karyotyping is an important process to classify chromosomes into standard classes and the results are routinely used by the clinicians to diagnose cancers and genetic diseases. However, visual karyotyping using microscopic images is time-consuming and tedious, which reduces the diagnostic efficiency and accuracy. Although many efforts have been made to develop computerized schemes for automated karyotyping, no schemes can get be performed without substantial human intervention. Instead of developing a method to classify all chromosome classes, we develop an automatic scheme to detect abnormal metaphase cells by identifying a specific class of chromosomes (class 22) and prescreen for suspicious chronic myeloid leukemia (CML). The scheme includes three steps: (1) iteratively segment randomly distributed individual chromosomes, (2) process segmented chromosomes and compute image features to identify the candidates, and (3) apply an adaptive matching template to identify chromosomes of class 22. An image data set of 451 metaphase cells extracted from bone marrow specimens of 30 positive and 30 negative cases for CML is selected to test the scheme's performance. The overall case-based classification accuracy is 93.3% (100% sensitivity and 86.7% specificity). The results demonstrate the feasibility of applying an automated scheme to detect or prescreen the suspicious cancer cases.

  1. Phenolphthalein treatment in pregnant women and congenital abnormalities in their offspring: A population-based case-control study.

    Science.gov (United States)

    Bánhidy, F; Acs, N; Puhó, E H; Czeizel, A E

    2008-12-01

    Phenolphthalein is frequently used laxative drug since 1930s, but the possible teratogenic effect of phenolphthalein was not checked in casecontrol eptedmiological study. In addition US Food and Drug Administration (FDA) declared the mutagenic and carcinogenic effect of phenolphthalein in 1999, thus we decided to evaluate the birth outcomes particularly congenital abnormalities (CAs) of newborn infants born to women treated with phenolphthalein during pregnancy. Cases with CA and their matched controls without CA born to mothers with phenolphthalein use during pregnancy were compared in the population-based large data set of the Hungarian Case-Control Surveillance System of Congenital Abnormalities. Of 22,843 cases with CA, 191 (0.83%) while of 38,151 controls, 247 (0.64%) were born to mothers with phenolphthalein treatment (adjusted OR with 95% CI: 1.3, 1.0-1.5). The mean gestational week at delivery was somewhat longer in both the case (0.3 week) and control (0.2 week) groups while the mean birth weight was somewhat larger in cases (46 g) and controls (12 g) born to mothers with phenolphthalein treatment during the study pregnancy compared with mothers without phenolphthalein treatment. These differences were in agreement with the lower rate of preterm births and low birth weight in controls born to mothers with phenolphthalein treatment during pregnancy. The detailed analysis of different CA groups showed an association between maternal phenolphthalein treatment during pregnancy and a higher risk for Hirschsprung's disease (p = 0.01) based on 4 cases in the so-called other isolated CA-group. In conclusion phenolphthalein treatment in pregnant women associates with a higher risk for Hirschsprung's disease in their children, but this finding is only a signal which needs confirmation or rejection in other studies.

  2. GAS6 Oncogene and Reverse MLLT3-KMT2A Duplications in an Infant with Acute Myeloid Leukemia and a Novel Complex Hyperdiploid Karyotype: Detailed High-Resolution Molecular Cytogenetic Studies.

    Science.gov (United States)

    Capela de Matos, Roberto R; Ney Garcia, Daniela R; Cifoni, Elaine; Othman, Moneeb A K; Tavares de Souza, Mariana; Carboni, Edna K; Ferreira, Gerson M; Liehr, Thomas; Ribeiro, Raul C; M Silva, Maria Luiza

    2017-01-01

    Pediatric acute myeloid leukemia (AML) is a highly heterogeneous disease, presenting cytogenetic and molecular abnormalities which turned out to be critical prognostic factors. Ploidy changes as gain or loss of individual chromosomes are rare in AML, occurring only in about 1-2% of the affected children. Hyperdiploid karyotypes are exceedingly rare in infants less than 12 months of age. In this age group, structural rearrangements involving the KMT2A gene occur in about 58% of the cases. Among them, the translocation t(9;11)(p22;q23), KMT2A-MLLT3, is the most common abnormality accounting for approximately 22% of KMT2A rearrangements in infant AML cases. Here, we describe a 7- month-old girl with a history of fever and severe diarrhea, and a physical examination remarkable for pallor and hepatosplenomegaly. A novel complex hyperdiploid karyotype 53,XX,+X,+6,t(9;11)(p21.3;q23.3),+der(9)t(9;11)(p21.3;q23.3),dup(13)(q31q34),+14,+19,+21,+22 was characterized by high-resolution molecular cytogenetic approaches. Fluorescence in situ hybridization, multiplex-FISH, and multicolor chromosome banding were applied, revealing 2 reverse MLLT3-KMT2A fusions and a duplication of the GAS6 oncogene. Our work suggests that molecular cytogenetic studies are crucial for the planning of a proper strategy for risk therapy in AML infants with hyperdiploid karyotypes. © 2017 S. Karger AG, Basel.

  3. Immune Abnormalities in Fontan Protein-Losing Enteropathy: A Case-Control Study.

    Science.gov (United States)

    Magdo, H Sonali; Stillwell, Terri L; Greenhawt, Matthew J; Stringer, Kathleen A; Yu, Sunkyung; Fifer, Carlen G; Russell, Mark W; Schumacher, Kurt R

    2015-08-01

    To comprehensively characterize the immunologic characteristics of patients with protein-losing enteropathy (PLE) post-Fontan and compare them with patients without PLE post-Fontan. Patients with PLE post-Fontan and age-matched controls post-Fontan were prospectively studied with laboratory markers of immune function. Infectious history was obtained by interview and chart review. The groups' demographics, cardiac history, immune characteristics, and infection history were compared using appropriate 2-group statistics. A total of 16 patients enrolled (8 patients with PLE and 8 controls). All patients with PLE had lymphopenia compared with 25% of controls (P = .01). All patients with PLE had markedly depressed CD4 T cell counts (median 58 cells/μL) compared with controls (median 450 cells/μL, P = .0002); CD4% was also low in the PLE group (12.3%) and normal in control (36.9%, P = .004). Both groups had mildly depressed CD8 T cells and normal to slightly elevated natural killer and B-cell subsets. A majority of patients with PLE (62.5%) had negative titers to measles, mumps, and rubella vaccination, compared with no control Fontan with a negative titer (P = .03). Despite profoundly low CD4 counts, the frequency of infection was not different between groups with no reported opportunistic infections. Patients with Fontan-associated PLE have extensive quantitative immune abnormalities, particularly CD4 deficiency. These immune abnormalities are similar to those found in non-Fontan patients with PLE caused by intestinal lymphangiectasia. Copyright © 2015 Elsevier Inc. All rights reserved.

  4. Karyotype characterization of in vivo- and in vitro-derived porcine parthenogenetic cell lines.

    Science.gov (United States)

    Liu, Qiang; Zhang, Manling; Hou, Dongxia; Han, Xuejie; Jin, Yong; Zhao, Lihua; Nie, Xiaowei; Zhou, Xin; Yun, Ting; Zhao, Yuhang; Huang, Xianghua; Hou, Daorong; Yang, Ning; Wu, Zhaoqiang; Li, Xueling; Li, Rongfeng

    2014-01-01

    Mammalian haploid cell lines provide useful tools for both genetic studies and transgenic animal production. To derive porcine haploid cells, three sets of experiments were conducted. First, genomes of blastomeres from 8-cell to 16-cell porcine parthenogenetically activated (PA) embryos were examined by chromosome spread analysis. An intact haploid genome was maintained by 48.15% of blastomeres. Based on this result, two major approaches for amplifying the haploid cell population were tested. First, embryonic stem-like (ES-like) cells were cultured from PA blastocyst stage embryos, and second, fetal fibroblasts from implanted day 30 PA fetuses were cultured. A total of six ES-like cell lines were derived from PA blastocysts. No chromosome spread with exactly 19 chromosomes (the normal haploid complement) was found. Four cell lines showed a tendency to develop to polyploidy (more than 38 chromosomes). The karyotypes of the fetal fibroblasts showed different abnormalities. Cells with 19-38 chromosomes were the predominant karyotype (59.48-60.91%). The diploid cells were the second most observed karyotype (16.17%-22.73%). Although a low percentage (3.45-8.33%) of cells with 19 chromosomes were detected in 18.52% of the fetus-derived cell lines, these cells were not authentic haploid cells since they exhibited random losses or gains of some chromosomes. The haploid fibroblasts were not efficiently enriched via flow cytometry sorting. On the contrary, the diploid cells were efficiently enriched. The enriched parthenogenetic diploid cells showed normal karyotypes and expressed paternally imprinted genes at extremely low levels. We concluded that only a limited number of authentic haploid cells could be obtained from porcine cleavage-stage parthenogenetic embryos. Unlike mouse, the karyotype of porcine PA embryo-derived haploid cells is not stable, long-term culture of parthenogenetic embryos, either in vivo or in vitro, resulted in abnormal karyotypes. The porcine PA

  5. Abnormal positioning of multiple abdominal organs with anomalous direct drainage of hepatic vein into the right atrium in a post operative omphalocele patient: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Hyun, Su Jeong; Cho, Bum Sang; Kim, Sung Jin; Lee, Seung Young; Kang, Min Ho; Yi, Kyung Sik [Chungbuk National Univ. Hospital, Cheongju (Korea, Republic of)

    2012-10-15

    An omphalocele is a rare congenital anomaly in which the infant's intestines protrude through the navel. Additional anomalies that are associated with omphalocele remain present in as many as 50% of cases, and these anomalies vary greatly from patient to patient. However, the persistent anomalies or abnormal position of the abdominal organs in post operative omphalocele patients have not reported previously. Herein, we report the case of an omphalocele patient with abnormal positioning of the liver, spleen and both kidneys, as well as abnormal drainage of the hepatic vein into the right atrium, which was found during a routine, postoperative follow-up computed tomography scan.

  6. Abnormal Ocular Movement With Executive Dysfunction and Personality Change in Subject With Thalamic Infarction: A Case Report.

    Science.gov (United States)

    Kim, Ee Jin; Kim, Myeong Ok; Kim, Chang Hwan; Joa, Kyung Lim; Jung, Han Young

    2015-12-01

    The thalamus, located between the cerebrum and midbrain, is a nuclear complex connected to the cerebral cortex that influences motor skills, cognition, and mood. The thalamus is composed of 50-60 nuclei and can be divided into four areas according to vascular supply. In addition, it can be divided into five areas according to function. Many studies have reported on a thalamic infarction causing motor or sensory changes, but few have reported on behavioral and executive aspects of the ophthalmoplegia of the thalamus. This study reports a rare case of a paramedian thalamus infarction affecting the dorsomedial area of the thalamus, manifesting as oculomotor nerve palsy, an abnormal behavioral change, and executive dysfunction. This special case is presented with a review of the anatomical basis and function of the thalamus.

  7. CT study of 17 cases of congenital cochlear abnormality. Embryologic and anatomo-functional relationship

    OpenAIRE

    Maurício, JC; Biscoito, L; Branco, G

    1993-01-01

    In this review of cochlear malformations, 17 cases were studied by CT scan (high resolution-target program) including 10 males and 7 females. The anomaly was bilateral in 12 cases and unilateral in 7 (the latter included 2 Mondini type aplasias and one Michel). The cochlear malformation (whose most frequent expression was the cochlear hypoplasia with 1 or 1 1/2 spires-65% of the cases) was associated to semicircular canals and/or vestibular aqueduct anomaly in 82% of the patients; it was excl...

  8. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

    Science.gov (United States)

    Callaway, Jonathan L A; Shaffer, Lisa G; Chitty, Lyn S; Rosenfeld, Jill A; Crolla, John A

    2013-01-01

    ABSTRACT The clinical utility of microarray technologies when used in the context of prenatal diagnosis lies in the technology's ability to detect submicroscopic copy number changes that are associated with clinically significant outcomes. We have carried out a systematic review of the literature to calculate the utility of prenatal microarrays in the presence of a normal conventional karyotype. Amongst 12 362 cases in studies that recruited cases from all prenatal ascertainment groups, 295/12 362 (2.4%) overall were reported to have copy number changes with associated clinical significance (pCNC), 201/3090 (6.5%) when ascertained with an abnormal ultrasound, 50/5108 (1.0%) when ascertained because of increased maternal age and 44/4164 (1.1%) for all other ascertainment groups (e.g. parental anxiety and abnormal serum screening result). When additional prenatal microarray studies are included in which ascertainment was restricted to fetuses with abnormal ultrasound scans, 262/3730 (7.0%) were reported to have pCNCs. © 2013 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. PMID:23983223

  9. Modeling a controversy in the press: The case of abnormal bee deaths

    Science.gov (United States)

    Delanoë, Alexandre; Galam, Serge

    2014-05-01

    The dynamics of opinion about the controversy of abnormal death of bees is studied among French speaking journalists using a corpus of 1467 articles published in newspapers during the period 1998-2010. From a systematic textual analysis, each article is tagged to either one of three stances to explain the phenomenon, a uni-factor cause, namely the use of pesticides, a multi-factor cause, or the absence of an understanding. On this basis, evolutions of the respective proportions of each category are obtained over the 13 consecutive years, exhibiting a series of broken lines. Assuming journalists are either flexible or inflexible about their respective views, their associated proportions are extracted from the data applying Galam Unifying Frame (GUF) of opinion dynamics. The variation of inflexibles along each view is thus obtained as a function of years for the 13 years of the corpus. From those distributions the possible pressure applied on journalists from lobbying or other externalities can be inferred. In addition, the results highlight the critical advantage gained by the first whistle-blowers and underline opinion inertia in the debate.

  10. Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta

    Directory of Open Access Journals (Sweden)

    Veronica Ortega

    2013-01-01

    Full Text Available We present a case of fetoplacental discrepancy in a second-trimester fetus with normal karyotype in amniotic fluid and two different Robertsonian translocations in placenta. A 41-year-old woman of Middle-Eastern origin, gravida 2, para 1, underwent amniocentesis at 16-week gestation because of advanced maternal age. Amniotic fluid karyotype showed a normal 46,XX karyotype with a homozygous inv(9. Parental chromosome analysis showed both parents to be carriers of inv(9 and the parents are not consanguineous. Fetal ultrasound was normal. The mother presented to the clinic 4 weeks later with intrauterine fetal demise. Chromosome analysis from the placenta showed two different cell lines: a balanced (15;21 Roberstonian translocation in 11 cells and an unbalanced (21;21 Robertsonian translocation in 9 cells. The karyotype was interpreted as mos 45,XX,inv(9(p11q13x2,der(15;21(q10;q10[11]/46,XX,inv(9(p11q13x2,+21,der(21;21(q10;q10. Mother was a carrier for the Cystic Fibrosis (delta F508, Factor V Leiden mutations, HbD-Los Angeles and HbQ-India variants. She also had a sibling with term stillbirth. Her husband’s history was unremarkable. Our case appears to be another example of confined placental mosaicism (CPM with normal fetal karyotype. However, we could not confirm the possibility that CPM contributed to the IUFD in our case given the complex medical history of the mother.

  11. Kernicterus with abnormal high-signal changes bilaterally in the globus pallidus: A case report.

    LENUS (Irish Health Repository)

    Culleton, S

    2018-04-01

    Kernicterus is a relatively rare consequence of hyperbilirubinemia. There is an important role for MRI imaging for this entity in the appropriate clinical context as there are distinct signal changes in the globus pallidus. A case report and image findings are presented

  12. Congenital Abnormalities

    Science.gov (United States)

    ... Stages Ages and Stages Prenatal Baby (0-12 mos.) Toddler 1-3yrs. Preschool 3-5yrs Grade School ... Categories of Congenital Abnormalities Chromosome Abnormalities Chromosomes are structures that carry genetic material inherited from one generation ...

  13. An unusual cytogenetic rearrangement originating from two different abnormalities in chromosome 6 in a child with acute promyelocytic leukemia.

    Science.gov (United States)

    Matos, R R C; Mkrtchyan, H; Amaral, B A S; Liehr, T; de Souza, M T; Ney-Garcia, D R; Santos, N; Marques-Salles, T J; Ribeiro, R C; Figueiredo, A F; Silva, M L M

    2013-01-01

    Acute promyelocytic leukemia (APL) is usually associated with a favorable outcome, but about 10% of patients tend to relapse. The genetic hallmark of APL is a balanced translocation involving chromosomes 15 and 17, and the PML-RARa gene fusion is found in more than 90% of these cases. Other chromosomal abnormalities are commonly found in APL, but their clinical significance has yet to be determined. Here we report a case of childhood APL that was studied by conventional cytogenetics along with molecular cytogenetic techniques. The patient showed a complex karyotype with an unusual cytogenetic rearrangement originating from two different abnormalities in a single chromosome 6. Our case is an exceptional example of a cryptic cytogenetic anomaly in APL and underscores the importance of detailed genetic characterization. Copyright © 2013 S. Karger AG, Basel.

  14. Histopathological pattern of gonads in cases of sex abnormalities in dogs: An attempt of morphological evaluation involving potential for neoplasia.

    Science.gov (United States)

    Dzimira, Stanislaw; Nizanski, Wojciech; Ochota, Malgorzata; Madej, Janusz A

    2015-10-01

    Disturbances in sex differentiation (DSD - disorder of sexual development) may result from disturbances in sex chromosomes or a disturbed development of gonads, or from genotypic disturbances. The objective of this article is to describe the histological structure of gonads in dogs showing sexual disturbances and a case of a cancer resembling gonadoblastoma in one of the animals. Among the 10 examined dogs with disturbances of sex development only a single case of a gonadoblastoma was observed. In animals with sex disturbances, similarly to humans, there exists a potential tendency for neoplastic lesions in dysgenetic gonads. As a rule, its frequency in population is confined due to the early procedure of castration of non-breeding dogs. In the present study dogs demonstrated phenotypical traits of bitches with developmental anomalies such as hyperplastic clitoris with vestigial os penis (baculum), or abnormalities in the location and structure of the vulva. The material for the study included canine gonads of various breeds, sampled from phenotypical bitches, aged 7 months to 4 years - patients of the Department of Reproduction and Clinic of Farm Animals, Faculty of Veterinary Medicine, University of Environmental and Life Sciences in Wroclaw (Poland) in years 2006-2013. The organs were surgically removed from the abdomen and sent for histopathological examination for the purpose of determining their histological structure. The 10 examined cases of altered gonads included 6 bilateral cases of testes (60%), 2 cases of bilateral ovotestis (20%), one case of co-manifestation of testis and ovotestis (10%), and a single case of a testis and a neoplastically altered gonad (gonadoblastoma) (10%). Copyright © 2015 Elsevier GmbH. All rights reserved.

  15. OMPHALOCELE, EXTROPHY OF CLOACA, IMPERFORATE ANUS AND SPINE ABNORMALITIES – OEIS COMPLEX : A RARE CASE REPORT

    OpenAIRE

    Uram Aruna; Ramakrishna; Vandana

    2015-01-01

    OEIS complex is a rare defect with estimated incidence of 1 in 200,000 live births. These defects occur due to improper closure of ventral abdominal wall and constitute a spectrum ranging from simple epispadias to complex association of OEIS. Most cases are sporadic with no obvious etiology. A third gravida with previous normal obstetric history delivered a dead fetus at 18wks of gestation. The anomalies presented are gr ouped under OEIS complex.

  16. Accessory coracobrachialis muscle with two bellies and abnormal insertion - case report

    Directory of Open Access Journals (Sweden)

    George Paraskevas

    2016-11-01

    Full Text Available Objective. In the current study a brief review is presented of the coracobrachialis muscle’s morphological variability, action, embryological development and clinical significance. Case report. We report a case of a left-sided coracobrachialis muscle consisting of two bellies. The deep belly inserts into the usual site in the middle area of the anteromedial aspect of the left humerus, whereas the superficial belly inserts through a muscular slip into the brachial fascia and the medial intermuscular septum, forming a musculo-aponeurotic tunnel in the middle region of the left arm, for the passage of the median nerve, brachial artery and veins, medial antebrachial cutaneous nerve and ulnar nerve. Conclusion. Awareness of such a muscle variant should be kept in mind by physicians and surgeons during interpretation of neural and vascular disorders of the upper limb, since such a variant may potentially lead to entrapment neuropathy and/or vascular compression, predisposing to neurovascular disorders, as well as during preparation of that muscle in cases of utilizing it as a graft in reconstruction of defects.

  17. Monosomal karyotype in acute myeloid leukemia: A better indicator of poor prognosis than a complex karyotype

    NARCIS (Netherlands)

    Breems, Dimitri A.; van Putten, Wim L. J.; de Greef, Georgine E.; van Zelderen-Bhola, Shama L.; Gerssen-Schoorl, Klasien B. J.; Mellink, Clemens H. M.; Nieuwint, Aggie; Jotterand, Martine; Hagemeijer, Anne; Beverloo, H. Berna; Lowenberg, Bob

    2008-01-01

    Purpose To investigate the prognostic value of various cytogenetic components of a complex karyotype in acute myeloid leukemia (AML). Patients and Methods Cytogenetics and overall survival (OS) were analyzed in 1,975 AML patients age 15 to 60 years. Results Besides AML with normal cytogenetics (CN)

  18. Identifying the similarities and differences between single nucleotide polymorphism array (SNPa analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes

    Directory of Open Access Journals (Sweden)

    Thiago Rodrigo de Noronha

    2015-02-01

    Full Text Available Objective: To standardize the single nucleotide polymorphism array (SNPa method in acute myeloid leukemia/myelodysplastic syndromes, and to identify the similarities and differ- ences between the results of this method and karyotyping. Methods: Twenty-two patients diagnosed with acute myeloid leukemia and three with myelodysplastic syndromes were studied. The G-banding karyotyping and single nucleotide polymorphism array analysis (CytoScan(r HD were performed using cells from bone marrow, DNA extracted from mononuclear cells from bone marrow and buccal cells (BC. Results: The mean age of the patients studied was 54 years old, and the median age was 55 years (range: 28-93. Twelve (48% were male and 13 (52% female. Ten patients showed abnormal karyotypes (40.0%, 11 normal (44.0% and four had no mitosis (16.0%. Regarding the results of bone marrow single nucleotide polymorphism array analysis: 17 were abnor- mal (68.0% and eight were normal (32.0%. Comparing the two methods, karyotyping identified a total of 17 alterations (8 deletions/losses, 7 trissomies/gains, and 2 translocations and single nucleotide polymorphism array analysis identified a total of 42 alterations (17 losses, 16 gains and 9 copy-neutral loss of heterozygosity. Conclusion: It is possible to standardize single nucleotide polymorphism array analysis in acute myeloid leukemia/myelodysplastic syndromes and compare the results with the abnormalities detected by karyotyping. Single nucleotide polymorphism array analysis increased the detection rate of abnormalities compared to karyotyping and also identified a new set of abnormalities that deserve further investigation in future studies.

  19. Abnormal radiological features in a multiple myeloma patient: a case report and radiological review of myelomas

    DEFF Research Database (Denmark)

    Ghosh, Sujoy; Wadhwa, P; A, Kumar

    2011-01-01

    Multiple myeloma is the prototype of malignant monoclonal gammopathies. The most common skeletal sites are pelvis, skull, spine, ribs and femoral and humeral shafts. The classic radiographic presentation of multiple myeloma is lytic skeletal lesions. Other types of presentation include sclerotic...... and porotic changes. Primary sclerotic manifestations are rare and occur in only 3% of cases. Although exceptional, multiple myeloma must be borne in mind in the presence of bone sclerosis. This report presents a patient with multiple myeloma with a sunburst/hair-on-end pattern on the radiograph and sclerotic...

  20. Root abnormalities, talon cusps, dentes invaginati with reduced alveolar bone levels: case report.

    LENUS (Irish Health Repository)

    McNamara, C M

    1998-03-01

    This is a case report of a Caucasian female who presented with an unusual combination of dental anomalies: short roots on the maxillary central incisors and premolars, talon cusps, dentes invaginati, low alveolar bone heights, tubercles of Carabelli on the maxillary first and second permanent molars, with pyramidal root morphology in three of the second permanent molars. None of the anomalies alone are particularly uncommon but they have not previously been reported together. The occurrence of the anomalies is probably incidental as the conditions are aetiologically unrelated.

  1. X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report.

    Science.gov (United States)

    Malik, Amna; Amer, Ahmed Bait; Salama, Mohammed; Haddad, Bander; Alrifai, Muhammad T; Balwi, Mohammed Al; Davies, William; Eyaid, Wafaa

    2017-09-22

    X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes. Here, we show for the first time, that X-linked ichthyosis may be comorbid with an additional psychiatric phenotype (psychosis). We report the case of an 11-year-old Saudi Arabian boy with X-linked ichthyosis associated with psychosis, mental retardation, autism spectrum disorder, inattentive attention deficit hyperactivity disorder, and epilepsy. Genetic analysis revealed a 1.68 Mb deletion encompassing STS in 95% of cells while biochemical analysis revealed correspondingly low steroid sulfatase activity consistent with a diagnosis of X-linked ichthyosis. The psychotic symptoms could be reasonably well controlled by administration of an atypical antipsychotic. This report describes a case of comorbid X-linked ichthyosis and psychosis (most closely corresponding to early-onset schizophrenia) for the first time, and suggests that deficiency for steroid sulfatase and contiguous genes may increase vulnerability to psychosis as well as other psychological disorders.

  2. Microarray-based genomic profiling and in situ hybridization on fibrotic bone marrow biopsies for the identification of numerical chromosomal abnormalities in myelodysplastic syndrome.

    Science.gov (United States)

    Stevens-Kroef, Marian Jpl; Hebeda, Konnie M; Verwiel, Eugène T; Kamping, Eveline J; van Cleef, Patricia H; Kuiper, Roland P; Groenen, Patricia Jta

    2015-01-01

    obtained with genomic profiling compared to conventional karyotyping. Our findings indicate that microarray-based profiling, even on bone marrow biopsies, is a valid approach for the identification of genetic abnormalities. This is a valuable substitution in cases of fibrotic MDS lacking cytogenetic results.

  3. Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes

    DEFF Research Database (Denmark)

    Aksglaede, L.; Skakkebaek, N.E.; Juul, A.

    2008-01-01

    CONTEXT: Growth is a highly complex process regulated by the interaction between sex steroids and the GH IGF-axis. However, other factors such as sex chromosome-related genes play independent roles. AIM: The aim of the study was to evaluate the role of abnormal chromosome constitution for longitu...

  4. Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype.

    Science.gov (United States)

    Bornstein, Eran; Berger, Sharon; Cheung, Sau W; Maliszewski, Kristen T; Patel, Ankita; Pursley, Amber N; Lenchner, Erez; Bacino, Carlos; Beaudet, Arthur L; Divon, Michael Y

    2017-03-01

    Objective  To assess the additive value of prenatal chromosomal microarray analysis (CMA) for all indications and the likelihood of detecting pathologic copy number variations (CNVs) based on specific indications. Methods  A retrospective analysis was performed on amniocentesis and chorionic villi sampling results obtained between 2010 and 2014 in a single institution. A total of 3,314 consecutive patients undergoing invasive genetic testing for different indications were offered CMA in addition to standard karyotype. The prevalence of pathologic CNVs was compared between patients with low-risk indications and those with high-risk indications. Likewise, the prevalence of pathologic CNVs among patients with different sonographic abnormalities was calculated and compared with the low-risk group. Chi-square and Fisher exact tests were used for statistical analysis. Results  The prevalence of pathologic CNVs was significantly higher in patients with high-risk indications and specifically those with sonographic abnormalities, compared with the low-risk group (2.8 and 5.9% vs. 0.4%, respectively; all p  karyotype. Major structural malformations and nuchal translucency (NT) ≥ 3.0 mm are associated with the highest risk for a CMA abnormality. Nevertheless, the prevalence of pathologic CNVs in the low-risk population was high enough (1:250) to consider genetic counseling in this group. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  5. The value of ultrasound and magnetic resonance imaging in diagnostics and prediction of morbidity in cases of placenta previa with abnormal placentation.

    Science.gov (United States)

    Algebally, Ahmed M; Yousef, Reda Ramadan Hussein; Badr, Sanaa Sayed Hussein; Al Obeidly, Amal; Szmigielski, Wojciech; Al Ibrahim, Abdullah A

    2014-01-01

    The purpose of the study was to evaluate the role of ultrasound (US) and magnetic resonance imaging (MRI) in the diagnostics and management of abnormal placentation in women with placenta previa and to compare the morbidity associated with that to placenta previa alone. The study includes 100 pregnant women with placenta previa with and without abnormal placentation. The results of MRI and US in abnormal placentation were compared with post-operative data. The patients' files were reviewed for assessment of operative and post-operative morbidity. The results of our statistical analysis were compared with data from the literature. US and MRI showed no significant difference in sensitivity and specificity in diagnosing abnormal placentation (97-100% and 94-100%, respectively). MRI was more sensitive than US for the detection of myometrial invasion and the type of abnormal placentation (73.5% and 47%, respectively). The difference between pre- and post-operative hemoglobin values and estimated blood loss were the most significant risk factors for abnormal placentation, added to risk factors known for placenta previa. Post-partum surgical complications and prolonged hospital stay were more common in the cases of placenta previa with abnormal placentation, however statistically insignificant. US and MRI are accurate imaging modalities for diagnosing abnormal placentation. MRI was more sensitive for the detection of the degree of placental invasion. The patient's morbidity increased in cases with abnormal placentation. There was no significant difference in post operative-complications and hospitalization time due to pre-operative planning when the diagnosis was established with US and MRI.

  6. Karyotypic Determinants of Chromosome Instability in Aneuploid Budding Yeast

    Science.gov (United States)

    Bradford, William D.; Li, Rong

    2012-01-01

    Recent studies in cancer cells and budding yeast demonstrated that aneuploidy, the state of having abnormal chromosome numbers, correlates with elevated chromosome instability (CIN), i.e. the propensity of gaining and losing chromosomes at a high frequency. Here we have investigated ploidy- and chromosome-specific determinants underlying aneuploidy-induced CIN by observing karyotype dynamics in fully isogenic aneuploid yeast strains with ploidies between 1N and 2N obtained through a random meiotic process. The aneuploid strains exhibited various levels of whole-chromosome instability (i.e. chromosome gains and losses). CIN correlates with cellular ploidy in an unexpected way: cells with a chromosomal content close to the haploid state are significantly more stable than cells displaying an apparent ploidy between 1.5 and 2N. We propose that the capacity for accurate chromosome segregation by the mitotic system does not scale continuously with an increasing number of chromosomes, but may occur via discrete steps each time a full set of chromosomes is added to the genome. On top of such general ploidy-related effect, CIN is also associated with the presence of specific aneuploid chromosomes as well as dosage imbalance between specific chromosome pairs. Our findings potentially help reconcile the divide between gene-centric versus genome-centric theories in cancer evolution. PMID:22615582

  7. Translucência nucal aumentada e cariótipo normal: evolução pré e pós-natal Increased fetal nuchal translucency thickness and normal karyotype: prenatal and postnatal follow-up

    Directory of Open Access Journals (Sweden)

    Fátima Aparecida Targino Saldanha

    2009-01-01

    Full Text Available OBJETIVO: O objetivo do presente estudo foi avaliar a evolução pré e pós-natal dos fetos com translucência nucal (TN aumentada e cariótipo normal. MÉTODOS: Duzentos e setenta e cinco fetos com TN aumentada foram avaliados no setor de Medicina Fetal da Clínica Obstétrica do HC-FMUSP. Esses casos foram submetidos à avaliação do cariótipo, ultrassonografia seriada, ecocardiografias fetal e pós-natal e avaliação clínica genética pós-natal. RESULTADOS: Em 14,2% dos casos, o cariótipo esteve alterado e em 85,8% o cariótipo ou fenótipo foi normal. Nos casos com cariótipo normal, a ultrassonografia morfológica de segundo trimestre esteve alterada em 24,7%, destes, um terço apresentou malformações estruturais maiores, sendo 35,7% cardíacas. Resultados gestacionais adversos, como abortamento, óbitos intraútero e neonatal ocorreram em 10,2% dos casos. A avaliação pós-natal foi realizada em 72,7% das crianças, mostrando-se alterada em 14,8%. A frequência de criança viva e saudável diminuiu com o aumento da medida da TN, sendo de 37,5% quando a TN foi igual ou maior que 4,5 mm. CONCLUSÃO: Nos fetos com TN aumentada e cariótipo normal, quanto maior a medida da TN maior a frequência de malformações estruturais, em especial defeitos cardíacos, resultados gestacionais adversos e alterações na avaliação pós-natal.OBJECTIVE: The aim of this study was to evaluate pregnancy and postnatal outcomes of fetuses with increased nuchal translucency thickness (NT and normal karyotype. METHODS: Two hundred seventy five fetuses with increased NT were examined with karyotyping analysis, serial ultrasound scans, echocardiography and postnatal clinical and genetic evaluation at the Fetal Medicine Unit - Department of Obstetrics - São Paulo University. RESULTS: The karyotype was abnormal in 14.2% of the cases and normal in 85.8%. In cases with normal karyotype 24.7% presented structural abnormalities at the anomaly scan, one third

  8. Karyotype and meiosis studies in Oxycatantops spissus (Walker ...

    African Journals Online (AJOL)

    The standard karyotype of Oxycatantops spissus (Walker) (Orthoptera: Acrididae: Acridinae) from Limbe in the South West Province of Cameroon, comprises 2n = 23 acrocentric chromosomes in the male with the XO/XX sex determining mechanism [2n = 23 (22AA+XO)]. The karyotype structure is represented by five pairs of ...

  9. Exploring Contemporary Issues in Genetics & Society: Karyotyping, Biological Sex, & Gender

    Science.gov (United States)

    Brown, Julie C.

    2013-01-01

    In this two-part activity, high school biology students examine human karyotyping, sex-chromosome-linked disorders, and the relationship between biological sex and gender. Through interactive simulations and a structured discussion lab, students create a human karyotype and diagnose chromosomal disorders in hypothetical patients, as well as…

  10. Studies on the chromosomes of tropical lilies 2: karyotype of ...

    African Journals Online (AJOL)

    Further to the work on the members of the West Tropical African “Lilies”, the karyotype of Gloriosa superba is reported. Chromosome count from root tip cells showed 2n = 56 and the karyotype consists of 16 pairs of metacentric chromosomes and 12 pairs of sub-metacentries. Journal of Applied Chemistry and Agricultural ...

  11. Karyotype studies on Tagetes erecta L. and Tagetes patula L ...

    African Journals Online (AJOL)

    Karyotypes of nine Tagetes erecta L. accessions and three Tagetes patula L. accessions were studied. The chromosome numbers of T. erecta and T. patula were 2n=2x=24 and 2n=4x=48, respectively. The karyotype formulae of T. erecta L. 'Scarletade' and 'Perfection Yellow' are 2n=2x=24=4sm+20m; '9901AB' and ...

  12. Karyotypes of the Cnidium cnidiifolium and C. olaense (Apiaceae

    Directory of Open Access Journals (Sweden)

    S. A. Volkova

    2015-07-01

    Full Text Available The karyotypes of Cnidium cnidiifolium and C. olaense (Apiaceae have been studied for the first time. Karyological characteristics of the species have been revealed. Karyotype includes 11 pairs metacentric and submetacentric chromosomes.

  13. [Fragile X syndrome and white matter abnormalities: Case study of two brothers].

    Science.gov (United States)

    Wallach, E; Bieth, E; Sevely, A; Cances, C

    2017-03-01

    Fragile X syndrome is the most usual cause of hereditary intellectual deficiency. Typical symptoms combine intellectual deficiency, social anxiety, intense emotional vigilance, and a characteristic facial dysmorphy. This is subsequent to a complete mutation of the FMR1 gene, considering a semidominant transmission linked to the unstable X. The expansion of the CGG triplet greater than 200 units combined with a high methylation pattern lead to a transcriptional silence of the FMR1 gene, and the protein product, the FMRP, is not synthesized. This protein is involved in synaptic plasticity. Brain MRI can show an increased volume of the caudate nucleus and hippocampus, combined with hypoplasia of the cerebellar vermis. Fragile X Associated Tremor Ataxia Syndrome (FXTAS) syndrome is a neurodegenerative disorder occurring in carriers of the premutation in FMR1. Brain MRI shows an increased T2 signal in the middle cerebellar peduncles. This syndrome is linked to a premutation in the FMR1 gene. We report here the case of two brothers presenting a typical fragile X symptomatology. Brain MRI showed hyperintensities of the middle cerebellar peduncles. Such MRI findings support the assumption of a genetic mosaicism. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  14. Karyotyping, dermatoglyphic, and sweat pore analysis of five families affected with ectodermal dysplasia.

    Science.gov (United States)

    Sidhu, Manpreet; Kale, Alka D; Kotrashetti, Vijayalakshmi S

    2012-09-01

    Hereditary ectodermal dysplasia is a genetic recessive trait characterized by hypohydrosis, hypotrichosis, and hypodontia. The affected individual show characteristic physiognomy like protruded forehead, depressed nasal bridge, periorbital wrinkling, protruded lips, etc. There is marked decrease in sweat and salivary secretion. Due to skin involvement palm and sole ridge patterns are disrupted. In this study an attempt has been made to classify the affected members according to the degree of penetrance by pedigree analysis and also study karyotyping for cytogenetics, dermatoglyphic analysis for the various ridge patterns and variations in the number of sweat glands by sweat pore analysis in affected individuals. A total of five families who were affected with ectodermal dysplasia were considered. Pedigree analysis was drawn up to three generation by obtaining history. Dermatoglyphics and sweat pore analysis was done by obtaining palm and finger print impression using stamp pad ink. Karyotyping was done by collecting 3-5 ml peripheral blood. Karyotyping was prepared using lymphocyte culture. Chromosomes were examined at 20 spreads selected randomly under ×100 magnification. Results were analyzed by calculating mean values and percentage was obtained. Karyotyping did not show any abnormalities, dermatoglyphic analysis and sweat pore counts showed marked variations when compared with normal. Moreover, pedigree analysis confirmed the status of the disease as that of the recessive trait. Large number of affected patients needs to be evaluated for dermatoglypic analysis. Genetic aspect of the disease needs to be looked into the molecular level in an attempt to locate the gene locus responsible for ectodermal dysplasia and its manifestation.

  15. Karyotypic analysis of different populations of Carthamus tinctorius Linnaeus (Asteraceae

    Directory of Open Access Journals (Sweden)

    Anjali Malik

    2009-08-01

    Full Text Available Somatic chromosomes of Carthamus tinctorius L. were analysed. A karyotype formula for each studied population was formulated. Although all samples have 2n = 24, they could be differentiated by their karyotype formula and quantitative parameters of the karyotypes. The chromosomes were assorted into different categories on the basis of arms ratio following Levan et al. (1964. These were further subdivided into different types, on the basis of total length of the chromosomes. Based on an evolutionary point of view, variation in total chromosome length without major changes in the karyotype formula suggests that changes in the amounts of genomic DNA are proportional to the relative length of an each chromosome arm. All samples possessed symmetrical or slightly asymmetrical karyotype. The samples belonging to the same species were showing intra-specific or inter-specific chromosome polymorphism. This finding may provide useful information for Carthamus evolutionary, genetic, and breeding studies.

  16. Adverse Pregnancy Outcomes after Abnormal First Trimester Screening for Aneuploidy

    Science.gov (United States)

    Goetzl, Laura

    2010-01-01

    Women with abnormal first trimester screening but with a normal karyotype are at risk for adverse pregnancy outcomes. A nuchal translucency >3.5mm is associated with an increased risk of subsequent pregnancy loss, fetal infection, fetal heart abnormalities and other structural abnormalities. Abnormal first trimester analytes are also associated with adverse pregnancy outcomes but the predictive value is less impressive. As a single marker, PAPP-A screening with the possible addition of uterine artery PI assessment in the midtrimester. PMID:20638576

  17. Meiotic abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    Chapter 19, describes meiotic abnormalities. These include nondisjunction of autosomes and sex chromosomes, genetic and environmental causes of nondisjunction, misdivision of the centromere, chromosomally abnormal human sperm, male infertility, parental age, and origin of diploid gametes. 57 refs., 2 figs., 1 tab.

  18. Síndrome de Cornelia de Lange Cornelia de Lange syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Lineu Cesar Werneck

    1972-12-01

    Full Text Available É relatado um caso do síndrome de Cornelia de Lange em menina de 9 anos de idade, caracterizado por deficiência mental, hirsutismo, synophris, anormalidades esqueléticas e dermatoglíficas. O cariotipo é normal.A case of Cornelia de Lange syndrome is reported. The clinical picture included mental retardation, hirsutism, synophris, skeletal abnormalities and changes in the epidermal ridge patterns. Normal karyotype.

  19. Clinical correlation between premature ovarian failure and a chromosomal anomaly in a 22-year-old Caucasian woman: a case report

    Directory of Open Access Journals (Sweden)

    Dell’Edera Domenico

    2012-10-01

    Full Text Available Abstract Introduction Premature ovarian failure is defined as the cessation of ovarian activity before the age of 40 years. It is biochemically characterized by low levels of gonadal hormones (estrogens and inhibins and high levels of gonadotropins (luteinizing hormone and follicle-stimulating hormone. Case presentation Our patient, a 22-year-old Caucasian woman under evaluation for infertility, had experienced secondary amenorrhea from the age of 18. No positive family history was noted regarding premature menopause. An examination of our patient’s karyotype showed the presence of a reciprocal translocation, apparently balanced, which had the X chromosome long arm (q13 and the 14 chromosome short arm (p12 with consequent karyotype: 46, X, t(X; 14(q13;p12. Conclusions Our study has underlined that karyotyping is one of the fundamental investigations in the evaluation of amenorrhea. It highlighted a genetic etiology, in the form of a chromosomal abnormality, as the causal factor in amenorrhea.

  20. Guide for the use of the regulations on medical surveillance to exposed workers in case of abnormal events (radiological accidents)

    International Nuclear Information System (INIS)

    1987-01-01

    According to medical surveillance, abnormal events are those extraordinary situations that may imply real or potential damage for a human being or a determined population. This guide refers to abnormal events that may imply, solely, to occupationally-exposed workers and small groups of population eventually related

  1. Rare F311L CFTR gene mutation in a child presented with recurrent electrolyte abnormalities and metabolic alkalosis: case report.

    Science.gov (United States)

    Lumpaopong, Adisorn; Thirakhupt, Prapaipim; Srisuwan, Konggrapun; Chulamokha, Yupapin

    2009-05-01

    Delta F508 mutation is recognized as the most common genotype of cystic fibrosis (CF) however, there are small numbers of CF patients having Delta F508/F311L. In the present study, the authors report a 2-year-old Thai boy, originating from North India, presenting with recurrent episodes of febrile illness, hyponatremia, hypokalemia, and metabolic alkalosis since 4 months of age. He was transferred to our hospital for further investigation. Blood chemistry revealed the following serum electrolytes, sodium 122, potassium 3.69, chloride 79.7, and bicarbonate 33.8 mEq/L, and the following urine electrolytes, sodium metabolic alkalosis improved DNA sequencing analysis of his blood demonstrates compound mutation for Delta F508 and F311L in CFTR gene. In conclusion, the authors report a rare case of CF with Delta F508/F311L genotype presented with recurrent hyponatremia and metabolic alkalosis. Awareness of electrolyte abnormalities during febrile illness, proper genetic counseling, and long-term follow up are necessary in this patient.

  2. Karyotype changes in cultured human corneal endothelial cells

    OpenAIRE

    Miyai, Takashi; Maruyama, Yoko; Osakabe, Yasuhiro; Nejima, Ryohei; Miyata, Kazunori; Amano, Shiro

    2008-01-01

    Purpose To examine karyotype changes in cultured human corneal endothelial cells (HCECs). Methods HCECs with Descemet’s membrane were removed from 20 donors of various ages (range, 2–77 years; average, 43.7±26.4 years) and cultured on dishes coated with extracellular matrix produced by bovine corneal endothelial cells (BCECs). Karyotype changes were examined by G-band karyotyping of HCECs at the third passage from 12 donors and the fifth passage from 16 donors. The number of chromosomes was a...

  3. Radiological findings of uterine arteriovenous malformation: a case report of an unusual and life-threatening cause of abnormal vaginal bleeding

    Directory of Open Access Journals (Sweden)

    Marcela Sales Farias

    2014-04-01

    Full Text Available Uterine arteriovenous malformations may cause life-threatening abnormal genital bleeding in women at childbearing age. Transvaginal Doppler ultrasonography is a widely available, noninvasive and excellent diagnostic method. The authors report the case of a patient with history of gestational trophoblastic disease and multiple curettage procedures who developed uterine arteriovenous malformations, with remission of the lesions after treatment with methotrexate.

  4. Walking abnormalities

    Science.gov (United States)

    ... include: Arthritis of the leg or foot joints Conversion disorder (a mental disorder) Foot problems (such as a ... injuries. For an abnormal gait that occurs with conversion disorder, counseling and support from family members are strongly ...

  5. Hematopoietic Cell Transplantation Outcomes in Monosomal Karyotype Myeloid Malignancies.

    Science.gov (United States)

    Pasquini, Marcelo C; Zhang, Mei-Jie; Medeiros, Bruno C; Armand, Philippe; Hu, Zhen-Huan; Nishihori, Taiga; Aljurf, Mahmoud D; Akpek, Görgün; Cahn, Jean-Yves; Cairo, Mitchell S; Cerny, Jan; Copelan, Edward A; Deol, Abhinav; Freytes, César O; Gale, Robert Peter; Ganguly, Siddhartha; George, Biju; Gupta, Vikas; Hale, Gregory A; Kamble, Rammurti T; Klumpp, Thomas R; Lazarus, Hillard M; Luger, Selina M; Liesveld, Jane L; Litzow, Mark R; Marks, David I; Martino, Rodrigo; Norkin, Maxim; Olsson, Richard F; Oran, Betul; Pawarode, Attaphol; Pulsipher, Michael A; Ramanathan, Muthalagu; Reshef, Ran; Saad, Ayman A; Saber, Wael; Savani, Bipin N; Schouten, Harry C; Ringdén, Olle; Tallman, Martin S; Uy, Geoffrey L; Wood, William A; Wirk, Baldeep; Pérez, Waleska S; Batiwalla, Minoo; Weisdorf, Daniel J

    2016-02-01

    The presence of monosomal karyotype (MK+) in acute myeloid leukemia (AML) is associated with dismal outcomes. We evaluated the impact of MK+ in AML (MK+AML, n = 240) and in myelodysplastic syndrome (MDS) (MK+MDS, n = 221) on hematopoietic cell transplantation outcomes compared with other cytogenetically defined groups (AML, n = 3360; MDS, n = 1373) as reported to the Center for International Blood and Marrow Transplant Research from 1998 to 2011. MK+ AML was associated with higher disease relapse (hazard ratio, 1.98; P < .01), similar transplantation-related mortality (TRM) (hazard ratio, 1.01; P = .90), and worse survival (hazard ratio, 1.67; P < .01) compared with those outcomes for other cytogenetically defined AML. Among patients with MDS, MK+ MDS was associated with higher disease relapse (hazard ratio, 2.39; P < .01), higher TRM (hazard ratio, 1.80; P < .01), and worse survival (HR, 2.02; P < .01). Subset analyses comparing chromosome 7 abnormalities (del7/7q) with or without MK+ demonstrated higher mortality for MK+ disease in for both AML (hazard ratio, 1.72; P < .01) and MDS (hazard ratio, 1.79; P < .01). The strong negative impact of MK+ in myeloid malignancies was observed in all age groups and using either myeloablative or reduced-intensity conditioning regimens. Alternative approaches to mitigate disease relapse in this population are needed. Copyright © 2016 American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.

  6. Oseltamivir use and severe abnormal behavior in Japanese children and adolescents with influenza: Is a self-controlled case series study applicable?

    Science.gov (United States)

    Fukushima, Wakaba; Ozasa, Kotaro; Okumura, Akihisa; Mori, Masaaki; Hosoya, Mitsuaki; Nakano, Takashi; Tanabe, Takuya; Yamaguchi, Naoto; Suzuki, Hiroshi; Mori, Mitsuru; Hatayama, Hideaki; Ochiai, Hirotaka; Kondo, Kyoko; Ito, Kazuya; Ohfuji, Satoko; Nakamura, Yosikazu; Hirota, Yoshio

    2017-08-24

    Since the 1990s, self-controlled designs including self-controlled case series (SCCS) studies have been occasionally used in post-marketing evaluation of drug or vaccine safety. An SCCS study was tentatively applied to evaluate the relationship between oseltamivir use and abnormal behavior Type A (serious abnormal behavior potentially leading to an accident or harm to another person) in influenza patients. From the original prospective cohort study with approximately 10,000 Japanese children and adolescents with influenza (aged collaborating hospitals/clinics were analyzed. We hypothesized four combination patterns of the effect period (i.e., the period that effect of oseltamivir on occurrence of abnormal behavior Type A is likely) and the control period. Mantel-Haenszel rate ratio (M-H RR) and its 95% confidence interval (CI) were calculated as the relative risk estimate. Among 28 subjects in the SCCS study, 24 subjects (86%) were administered oseltamivir and 4 subjects (14%) were not. Abnormal behavior Type A was more likely to occur in the effect period than the control period in every pattern (M-H RR: 1.90-29.1). We observed the highest estimate when the effect period was set between the initial intake of oseltamivir and T max (M-H RR: 29.1, 95% CI: 4.21-201). Abnormal behavior Type A was more likely to develop up to approximately 30 times during the period between the initial intake of oseltamivir and T max . However, this period overlapped with the early period of influenza where high fever was observed. Since useful approaches to control the influence of the natural disease course of influenza were not available in this study, we could not deny the possibility that abnormal behavior was induced by influenza itself. The SCCS study was not an optimal method to evaluate the relationship between oseltamivir use and abnormal behavior. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. Clinical, clinicopathologic, radiographic, and ultrasonographic abnormalities in dogs with fatal acute pancreatitis: 70 cases (1986-1995)

    International Nuclear Information System (INIS)

    Hess, R.S.; Saunders, H.M.; Van Winkle, T.J.; Shofer, F.S.; Washabau, R.J.

    1998-01-01

    To determine clinical, clinicopathologic, radiographic, ultrasonographic, and coagulation abnormalities in dogs in which acute pancreatitis was fatal. Retrospective study. 70 dogs. History, clinical signs, and physical examination findings at the time of initial evaluation at the veterinary teaching hospital; results of pretreatment laboratory tests, abdominal radiography, and ultrasonography; and histologic abnormalities were obtained from medical records. Clinical signs included anorexia, vomiting, Weakness, diarrhea, polyuria and polydipsia, neurologic abnormalities, melena, weight loss, hematemesis, and passage of frank blood in feces. At the time of initial examination at the veterinary teaching hospital, 68 (97%) dogs were dehydrated, 18 (26%) were icteric, 22 (32%) were febrile, 40 (58%) had signs of abdominal pain, and 30 (43%) were classified as overweight or obese. Most dogs had leukocytosis, neutrophilia with a left shift, and thrombocytopenia. Various serum biochemical abnormalities were identified, including hypoglycemia, azotemia, hypercalcemia and other electrolyte abnormalities, hypoalbuminemia, high hepatic and pancreatic enzyme activities, hypercholesterolemia, and lipemia. For 17 of 28 (61%) dogs, results of coagulation function tests were abnormal. Results of abdominal ultrasonography and radiography were consistent with a diagnosis of acute pancreatitis in 23 of 34 (68%) and 10 of 41 (24%) dogs, respectively. For 2 dogs, results of abdominal ultrasonography were not suggestive of acute pancreatitis, but results of abdominal radiography were. Clinical signs and results of clinicopathologic tests are inconsistent. Abdominal ultrasonography may be valuable in the diagnostic evaluation of dogs suspected to have acute pancreatitis

  8. Influence of detection of pretreatment cytogenetic abnormalities on first complete remission and survival in adult acute lymphoblastic leukemia

    Directory of Open Access Journals (Sweden)

    Milena Georgieva Velizarova

    2011-09-01

    Full Text Available Objective: Treatment of acute lymphoblastic leukemia (ALL in adults focuses on the initial assessment of the prognostic relevant cytogenetic features as well as a response-guided therapy based on molecular data. We examined the importance of molecular-cytogenetic abnormalities for complete remission (CR rates and the overall survival (OS in adult ALLs.Materials and Methods: Conventional cytogenetics and fluorescence in situ hybridization were performed on bone marrow cells from 33 newly-diagnosed ALL adults. Two karyotype categories [standard- risk group- normal karyotype, hyperdiplody and other structural aberrations, and high-risk group-t(11q23/MLL, t(9;22/bcr-abl, t(1;19, t(8;14, C-MYC and complex karyotype] and the biologically and clinically relevant ALL ploidy subgroups were prospectively defined.Results: Chromosomal abnormalities were found in 52% of the cases with a high rate of poor-risk translocations - t(9;22, t(8q24, t(11q23, t(1;19. The total CR rate was 67% and the median time for achievement 2.33 months. Male sex, an age below 35 years and the absence of high risk translocations might have contributed to the high CR rates. Female patients, hyperdiplody, low white blood cells (WBC, and random cytogenetic aberrations had the longest OS. OS, 3- and 5-years survival periods were significantly shorter for poor-risk than standard risk group (p=.015, p=.001 and p=.005, respectively.Conclusion: This study emphasizes the lack of influence of cytogenetic aberrations on the CR and the time to achieve CR. However, our observations show that these aberrations are an independent prognostic factor in adult ALL - they allow predicting therapy resistance and the OS time after intensetreatment.

  9. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft

    2001-01-01

    Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...

  10. Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory.

    Science.gov (United States)

    Wang, Boris T; Chong, Thomas P; Boyar, Fatih Z; Kopita, Kimberly A; Ross, Leslie P; El-Naggar, Mohamed M; Sahoo, Trilochan; Wang, Jia-Chi; Hemmat, Morteza; Haddadin, Mary H; Owen, Renius; Anguiano, Arturo L

    2014-01-01

    Cytogenetic evaluation of products of conception (POC) for chromosomal abnormalities is central to determining the cause of pregnancy loss. We compared the test success rates in various specimen types and the frequencies of chromosomal abnormalities detected by G-banding analysis with those found by Oligo-SNP chromosomal microarray analysis (CMA). We evaluated the benefit of CMA testing in cases of failed culture growth. Conventional cytogenetic results of 5457 consecutive POC specimens were reviewed and categorized as placental villi, fetal parts, and unspecified POC tissue. The CMA was performed on 268 cases. Of those, 32 cases had concurrent G-banding results. The remaining 236 cases included 107 cases with culture failure and 129 cases evaluated by CMA alone. The overall POC culture success rate was 75%, with the lowest for fetal parts (37.4%) and the highest for placental villi (81%). The abnormality rate was 58% for placental villi, but only 25% for fetal parts. Of the abnormalities detected, the most common were aneuploidies, including trisomy 16, triploidy, monosomy X, trisomy 22, trisomy 21 and trisomy 15, while the least encountered aneuploidies were trisomy 1, trisomy 19 and monosomies (except monosomy 21). Overall, POC specimens studied by CMA were successful in 89.6% of cases and yielded a 44.6% abnormality rate. Placental villi yielded higher rates of culture success and a higher percentage of abnormal karyotypes than did other specimen types. The Oligo-SNP CMA method has demonstrated a viable alternative to the G-banding method in view of its advantages in detection of submicroscopic genomic aberrations, shorter turnaround time due to elimination of time required for culture and a higher test success rate.

  11. Single-cell sequencing reveals karyotype heterogeneity in murine and human malignancies.

    Science.gov (United States)

    Bakker, Bjorn; Taudt, Aaron; Belderbos, Mirjam E; Porubsky, David; Spierings, Diana C J; de Jong, Tristan V; Halsema, Nancy; Kazemier, Hinke G; Hoekstra-Wakker, Karina; Bradley, Allan; de Bont, Eveline S J M; van den Berg, Anke; Guryev, Victor; Lansdorp, Peter M; Colomé-Tatché, Maria; Foijer, Floris

    2016-05-31

    Chromosome instability leads to aneuploidy, a state in which cells have abnormal numbers of chromosomes, and is found in two out of three cancers. In a chromosomal instable p53 deficient mouse model with accelerated lymphomagenesis, we previously observed whole chromosome copy number changes affecting all lymphoma cells. This suggests that chromosome instability is somehow suppressed in the aneuploid lymphomas or that selection for frequently lost/gained chromosomes out-competes the CIN-imposed mis-segregation. To distinguish between these explanations and to examine karyotype dynamics in chromosome instable lymphoma, we use a newly developed single-cell whole genome sequencing (scWGS) platform that provides a complete and unbiased overview of copy number variations (CNV) in individual cells. To analyse these scWGS data, we develop AneuFinder, which allows annotation of copy number changes in a fully automated fashion and quantification of CNV heterogeneity between cells. Single-cell sequencing and AneuFinder analysis reveals high levels of copy number heterogeneity in chromosome instability-driven murine T-cell lymphoma samples, indicating ongoing chromosome instability. Application of this technology to human B cell leukaemias reveals different levels of karyotype heterogeneity in these cancers. Our data show that even though aneuploid tumours select for particular and recurring chromosome combinations, single-cell analysis using AneuFinder reveals copy number heterogeneity. This suggests ongoing chromosome instability that other platforms fail to detect. As chromosome instability might drive tumour evolution, karyotype analysis using single-cell sequencing technology could become an essential tool for cancer treatment stratification.

  12. Karyotype diversity and genome size variation in Neotropical Maxillariinae orchids.

    Science.gov (United States)

    Moraes, A P; Koehler, S; Cabral, J S; Gomes, S S L; Viccini, L F; Barros, F; Felix, L P; Guerra, M; Forni-Martins, E R

    2017-03-01

    Orchidaceae is a widely distributed plant family with very diverse vegetative and floral morphology, and such variability is also reflected in their karyotypes. However, since only a low proportion of Orchidaceae has been analysed for chromosome data, greater diversity may await to be unveiled. Here we analyse both genome size (GS) and karyotype in two subtribes recently included in the broadened Maxillariinea to detect how much chromosome and GS variation there is in these groups and to evaluate which genome rearrangements are involved in the species evolution. To do so, the GS (14 species), the karyotype - based on chromosome number, heterochromatic banding and 5S and 45S rDNA localisation (18 species) - was characterised and analysed along with published data using phylogenetic approaches. The GS presented a high phylogenetic correlation and it was related to morphological groups in Bifrenaria (larger plants - higher GS). The two largest GS found among genera were caused by different mechanisms: polyploidy in Bifrenaria tyrianthina and accumulation of repetitive DNA in Scuticaria hadwenii. The chromosome number variability was caused mainly through descending dysploidy, and x=20 was estimated as the base chromosome number. Combining GS and karyotype data with molecular phylogeny, our data provide a more complete scenario of the karyotype evolution in Maxillariinae orchids, allowing us to suggest, besides dysploidy, that inversions and transposable elements as two mechanisms involved in the karyotype evolution. Such karyotype modifications could be associated with niche changes that occurred during species evolution. © 2016 German Botanical Society and The Royal Botanical Society of the Netherlands.

  13. Use of a coronary sinus guiding sheath for placement of right ventricular lead in abnormal venous anatomy: a report of 2 cases

    Science.gov (United States)

    Vivek, G; shetty, Ranjan K; Pai, Umesh M; Nayak, Krishnananda

    2012-01-01

    Techniques of implanting pacing leads in the right ventricle (RV) have evolved over time and involve the use of preshaped stylets. However, in the presence of venous abnormalities, it could be very challenging to do the same. We describe two cases with complex superior vena caval (SVC) anatomy which could be negotiated only with the use of a slittable coronary sinus guiding sheath and successful placement of pacing lead in the right ventricle. PMID:23162035

  14. Clonal proliferation and karyotypic features of cells in bone marrow after irradiation

    International Nuclear Information System (INIS)

    Kohno, S.; Ishihara, T.

    1979-01-01

    Single stem cells in which chromosome abnormalities are induced by radiation may multiply to form the chromosomally abnormal clones of cells that may replace most of the cells in regenerating hematopoietic tissues after irradiation. It is only a limited number of karyotypes out of a variety of the cells with radiation-induced chromosome abnormalities that can persist as proliferative clones. Such clones in the bone marrows of irradiated rats were found to have aneusomic chromosome constitutions with trisomy or monosomy. This finding is contradictory to the general beliefs that the chromosomally abnormal clones surviving after irradiation would have the chromosome constitutions comparable to a normal diploid set making such clone cells selectively neutral, and that autosomally monosomic cells would not be able to compete against the cells in normal somatic tissues. The proliferation of aneusomic cells in hematopoietic tissues is a phenomenon observable in various blood disorders such as leukemia. The fact that almost all of the aneuploid clones observed possessed various chromosomal rearrangements in addition to their numerical changes appears to indicate that the chromosomal imbalance in original clones may predispose their chromosomes to non-disjunction. The process of the leukemic development of cells may require two steps: the leukemic transformation of cells and the proliferation of such transformed cells up to the manifestation of the disease. (Yamashita, S.)

  15. Evidence of Chromosomal Instability in Prostate Cancer Determined by Spectral Karyotyping (SKY and Interphase FISH Analysis

    Directory of Open Access Journals (Sweden)

    Ben Beheshti

    2001-01-01

    Full Text Available The way in which cytogenetic aberrations develop in prostate cancer (Cap is poorly understood. Spectral karyotype (SKY analysis of Cap cell lines has shown that they have unstable karyotypes and also have features associated with chromosomal instability (CIN. To accurately determine the incidence of de novo structural and numerical aberrations in vitro in Cap, we performed SKY analysis of three independent clones derived from one representative cell line, DU145. The frequent generation of new chromosomal rearrangements and a wide variation in the number of structural aberrations within two to five passages suggested that this cell line exhibited some of the features associated with a CIN phenotype. To study numerical cell-to-cell variation, chromosome 8 aneusomy was assessed in the LNCaP, DU145, and PC-3 cell lines and a patient cohort of 15 Cap primary tumors by interphase fluorescence in situ hybridization (FISH. This analysis showed that a high frequency of numerical alteration affecting chromosome 8 was present in both in vitro and in Cap tissues. In comparison to normal controls, the patient cohort had a statistically significant (P<.05, greater frequency of cells with one and three centromere 8 copies. These data suggest that a CIN-like process may be contributing towards the generation of de novo numerical and structural chromosome abnormalities in Cap.

  16. Karyotype Evolution in Harvestmen of the Suborder Cyphophthalmi (Opiliones).

    Science.gov (United States)

    Svojanovská, Hana; Nguyen, Petr; Hiřman, Matyáš; Tuf, Ivan H; Wahab, Rodzay Abdul; Haddad, Charles R; Šťáhlavský, František

    2016-01-01

    The morphologically uniform suborder Cyphophthalmi represents a basal group of harvestmen (Opiliones). As such, it plays an important role in the reconstruction of the karyotype evolution within this arachnid order. The cytogenetic analysis of 6 representatives of the suborder Cyphophthalmi, namely Miopsalis sp. (2n = 30; Stylocellidae), Austropurcellia arcticosa (Cantrell, 1980) (2n = 30; Pettalidae), Parapurcellia amatola de Bivort & Giribet, 2010 (2n = 32; Pettalidae), Paramiopsalis aff. ramulosus Juberthie, 1962 (2n = 28; Sironidae), Cyphophthalmus duricorius Joseph, 1868 (2n = 24; Sironidae), and Siro carpaticus Rafalski, 1956 (2n = 52; Sironidae) was performed. Fluorescence in situ hybridization with 18S rDNA probe was used to analyze the distribution of major ribosomal RNA genes in harvestmen. We confront the obtained cytogenetic data with current hypotheses on cyphophthalmid phylogeny to reconstruct their karyotype evolution. We conclude that the ancestral karyotype of harvestmen consisted of 2n = 30 elements with 1 chromosome pair bearing terminal rDNA clusters. The rDNA locus was multiplicated in the evolution of Cyphophthalmi. However, decreases as well as increases in the number of chromosomes have been detected in the karyotype evolution of Cyphophthalmi. Our data thus reveal unexpected diversity in cyphophthalmid karyotypes. © 2016 S. Karger AG, Basel.

  17. The effectiveness of osteopathic manipulative treatment in an abnormal uterine bleeding related pain and health related quality of life (HR-QoL) - A case report.

    Science.gov (United States)

    Goyal, Kanu; Goyal, Manu; Narkeesh, Kanimozhi; John Samuel, Asir; Sharma, Sorabh; Chatterjee, Subhasish; Arumugam, Narkeesh

    2017-07-01

    Abnormal uterine bleeding is characterized by painful and/or excessive menorrhea, chronic pelvic pain due to the endometriosis (Em). Osteopathic treatment is commonly used in the gynecological dysfunctions. The aim of the present case study was to explore the effect of osteopathic treatment (OT) for a woman with abnormal uterine bleeding related pain and quality of life (QoL). We reported a case of 29 year old female who presented with chief complaints of increased flow during periods, lower abdominal pain, leukorrhoea, lower back pain and with occasional constipation for the last 3 years. Patient is a mother of 6 years old male child born with normal delivery. On diagnostic ultrasonography the uterus was found bulky with insignificant endometriosis and no other abnormality was detected. She did not have any relevant past medical and surgical history. The pre and post osteopathic treatment measurements were measured using Visual Analog Scale (VAS) and the health related quality of life (HR-QoL) questionnaire called short form Endometriosis Health Profile Questionnaire (EHP) - 5. In the present case the pain due to the endometriosis was treated with the osteopathic treatment consists of all the major diaphragms' release (release of pelvic diaphragm, abdominal diaphragm, thoracic outlet release and hyoid diaphragm) during the first session and in the second session gastro-esophageal (GE) junction release, sigmoid colon release, cranial therapy to the occiput, sacral release and dural tube rocking. Following that improvement of pain from VAS 8.3/10 to 3.9/10 and QoL improvement from EHP-5, 72/100 to 26/100 was noted. Osteopathic manipulative approach (OMA) in the patient with Em might improve the abnormal uterine bleeding related pain and health related quality of life (HR-QoL). Copyright © 2016 Elsevier Ltd. All rights reserved.

  18. A Modified Technique of Fixation for Proximal Femoral Valgus Osteotomy in Abnormal Bone: A Report of Two Cases

    Directory of Open Access Journals (Sweden)

    Logheswaren S

    2017-07-01

    Full Text Available The ideal size of intramedullary device to fix corrective osteotomy of proximal femur in abnormal bone in children and small patients may not be easily available. We report the successful use of Rush rod in combination with multiple Kirschner wires to fix the corrective osteotomy of coxa vara and shepherd crook deformity in two patients with osteogenesis imperfecta and fibrous dysplasia. The union was achieved on time, neck shaft angle and rotation were maintained.

  19. Clinically severe Epstein-Barr virus encephalitis with mild cerebrospinal fluid abnormalities in an immunocompetent adolescent: a case report.

    Science.gov (United States)

    Engelmann, Ilka; Nasser, Hala; Belmiloudi, Soufien; Le Guern, Rémi; Dewilde, Anny; Vallée, Louis; Hober, Didier

    2013-06-01

    A 15-year-old boy developed Epstein-Barr virus (EBV) encephalitis, a rare complication of infectious mononucleosis. The severe clinical picture and the marked neuroimaging changes were in contrast with mild cerebrospinal fluid abnormalities: leukocyte count was normal and protein level was only slightly elevated. EBV DNA was detected in cerebrospinal fluid by polymerase chain reaction. Copyright © 2013 Elsevier Inc. All rights reserved.

  20. [Correlation of chromosome karyotype with dyshaematopoiesis and reticulin in myelodysplastic syndrome].

    Science.gov (United States)

    Cheng, Yan-Chao; Sun, Hui; Gan, Si-Lin; Liu, Yan-Fang; Xie, Xin-Sheng; Zhang, Qiu-Tang; Li, Tao; Gao, Juan

    2013-04-01

    This study was purposed to explore the correlation of chromosome karyotype with dyshaematopoiesis and reticulin in myelodysplastic syndrome (MDS). The data of 202 MDS patients diagnosed and treated in the First Affiliated Hospital of Zhengzhou University were retrospectively analyzed in term of chromosome karyotype, dyshaematopoiesis and reticulin detection results. The chromosome karyotypes were categorized according to the International Prognostic Scoring System (IPSS). The results showed that there was a positive correlation between chromosome karyotype grading and number of lineages with dyshaematopoiesis (r = 0.443, P karyotypes were 44.4%, 71.4% and 96.3% respectively. There was a positive correlation between chromosome karyotype grading and reticulin grading (r = 0.451, P karyotypes were 36.8%, 64.3% and 92.6% respectively. The detected rate of multilineage dyshaematopoiesis, number of lineages with dyshaematopoiesis, the positive rate of reticulin and reticulin grade in patients with poor karyotypes were higher than those in patients with intermediate or good chromosome karyotypes (separately P karyotypes were higher than those in patients with good chromosome karyotypes (separately P karyotype grading positively correlates with the number of lineages with dyshaematopoiesis and reticulin grading. When the chromosome karyotype changed from good to poor, the detected rate of multilineage dyshaematopoiesis, number of lineages with dyshaematopoiesis, positive rate of reticulin and reticulin grading became higher and higher.

  1. Karyotype of three Lonchophylla species (Chiroptera, Phyllostomidae) from Southeastern Brazil.

    Science.gov (United States)

    Almeida, Brunna; Novaes, Roberto Leonan Morim; Aguieiras, Marcia; Souza, Renan de França; Esbérard, Carlos Eduardo Lustosa; Geise, Lena

    2016-01-01

    Lonchophylla Thomas, 1903 is a Neotropical bat genus that comprises 12 species, with little cytogenetic information available. Here we present the description of the karyotype of three species collected in Southeastern Brazil. Lonchophylla bokermanni Sazima, Vizotto & Taddei, 1978, Lonchophylla dekeyseri Taddei, Vizotto & Sazima, 1983, and Lonchophylla peracchii Dias, Moratelli & Esberard, 2013 showed the same diploid number 2n = 28 and the same autosomal fundamental number FNa = 50, in both Lonchophylla bokermanni and Lonchophylla peracchii. We observed that the karyotypes were also cytogenetically similar when we compared the studied species with other species within the same genus. It is therefore not possible to differentiate the species using only karyotypes with conventional staining. However, this information increases the knowledge of the genus and can be one more important character for a better phylogenetic comprehension of this taxon.

  2. Abnormal position of lymph nodes in a freemartin sheep

    Directory of Open Access Journals (Sweden)

    Salazar PA

    2012-03-01

    Full Text Available Angela M Gonella-Diaza, Luz Zoraya Duarte, Sergio Dominguez, Pedro A SalazarClínica de Grandes Animales, Facultad de Medicina Veterinaria y de Zootecnia, Universidad Cooperativa de Colombia, Bucaramanga, Santander, ColombiaAbstract: In this freemartin case report the authors present the clinical and morphological findings of a freemartin ewe with an abnormal position of two lymph nodes. Freemartins, infertile females from mixed-sex twin pregnancies, are chimeras, having two cell populations: one of their own (XX DNA and one from their male twin (XY DNA. Freemartins can have varying degrees of phenotypic masculinization, including, in some cases, having active male gonads and exhibiting male behaviors such as heat detection and aggressiveness. During the clinical examination of the freemartin ewe, a morphological abnormality of the vulva, the presence of scrotal sacs, and a lack of mammary tissue development were noted. On inspection of the vaginal channel, an extremely enlarged clitoris, resembling a penis, was found. The clinical evidence suggested freemartinism. After the karyotyping diagnosis confirmation, a necropsy was performed and samples were taken for histology and immunohistochemistry. There were two structures found in the scrotal sacs; however, these were found to be lymph nodes, not testicles, and this was confirmed by CD3 lymph protein coloration. On histological study, the phallic structure showed corpus cavernosum and tunica albuginea. The testicles were found retained inside the abdominal cavity, with the presence of atrophic seminiferous tubules. Although the position of the testicles in freemartins has been reported as highly variable, this is the first time, to the best of the authors' knowledge, that a case has been reported where lymph nodes have been found inside the scrotal sacs. It is possible that these were the inguinal lymph nodes, trapped inside the scrotum during fetal growth and development.Keywords: freemartinism

  3. Detecting Mechanisms of Karyotype Evolution in Heterotaxis (Orchidaceae).

    Science.gov (United States)

    Moraes, Ana Paula; Olmos Simões, André; Ojeda Alayon, Dario Isidro; de Barros, Fábio; Forni-Martins, Eliana Regina

    2016-01-01

    The karyotype is shaped by different chromosome rearrangements during species evolution. However, determining which rearrangements are responsible for karyotype changes is a challenging task and the combination of a robust phylogeny with refined karyotype characterization, GS measurements and bioinformatic modelling is necessary. Here, this approach was applied in Heterotaxis to determine what chromosome rearrangements were responsible for the dysploidy variation. We used two datasets (nrDNA and cpDNA, both under MP and BI) to infer the phylogenetic relationships among Heterotaxis species and the closely related genera Nitidobulbon and Ornithidium. Such phylogenies were used as framework to infer how karyotype evolution occurred using statistical methods. The nrDNA recovered Ornithidium, Nitidobulbon and Heterotaxis as monophyletic under both MP and BI; while cpDNA could not completely separate the three genera under both methods. Based on the GS, we recovered two groups within Heterotaxis: (1) "small GS", corresponding to the Sessilis grade, composed of plants with smaller genomes and smaller morphological structure, and (2) "large GS", corresponding to the Discolor clade, composed of plants with large genomes and robust morphological structures. The robust karyotype modeling, using both nrDNA phylogenies, allowed us to infer that the ancestral Heterotaxis karyotype presented 2n = 40, probably with a proximal 45S rDNA on a metacentric chromosome pair. The chromosome number variation was caused by ascending dysploidy (chromosome fission involving the proximal 45S rDNA site resulting in two acrocentric chromosome pairs holding a terminal 45S rDNA), with subsequent descending dysploidy (fusion) in two species, H. maleolens and H. sessilis. However, besides dysploidy, our analysis detected another important chromosome rearrangement in the Orchidaceae: chromosome inversion, that promoted 5S rDNA site duplication and relocation.

  4. Updating the maize karyotype by chromosome DNA sizing.

    Directory of Open Access Journals (Sweden)

    Jéssica Coutinho Silva

    Full Text Available The karyotype is a basic concept regarding the genome, fundamentally described by the number and morphological features of all chromosomes. Chromosome class, centromeric index, intra- and interchromosomal asymmetry index, and constriction localization are important in clinical, systematic and evolutionary approaches. In spite of the advances in karyotype characterization made over the last years, new data about the chromosomes can be generated from quantitative methods, such as image cytometry. Therefore, using Zea mays L., this study aimed to update the species' karyotype by supplementing information on chromosome DNA sizing. After adjustment of the procedures, chromosome morphometry and class as well as knob localization enabled describing the Z. mays karyotype. In addition, applying image cytometry, DNA sizing was unprecedentedly measured for the arms and satellite of all chromosomes. This way, unambiguous identification of the chromosome pairs, and hence the assembly of 51 karyograms, were only possible after the DNA sizing of each chromosome, their arms and satellite portions. These accurate, quantitative and reproducible data also enabled determining the distribution and variation of DNA content in each chromosome. From this, a correlation between DNA amount and total chromosome length evidenced that the mean DNA content of chromosome 9 was higher than that of chromosome 8. The chromosomal DNA sizing updated the Z. mays karyotype, providing insights into its dynamic genome with regards to the organization of the ten chromosomes and their respective portions. Considering the results and the relevance of cytogenetics in the current scenario of comparative sequencing and genomics, chromosomal DNA sizing should be incorporated as an additional parameter for karyotype definition. Based on this study, it can be affirmed that cytogenetic approaches go beyond the simple morphological description of chromosomes.

  5. Detecting Mechanisms of Karyotype Evolution in Heterotaxis (Orchidaceae.

    Directory of Open Access Journals (Sweden)

    Ana Paula Moraes

    Full Text Available The karyotype is shaped by different chromosome rearrangements during species evolution. However, determining which rearrangements are responsible for karyotype changes is a challenging task and the combination of a robust phylogeny with refined karyotype characterization, GS measurements and bioinformatic modelling is necessary. Here, this approach was applied in Heterotaxis to determine what chromosome rearrangements were responsible for the dysploidy variation. We used two datasets (nrDNA and cpDNA, both under MP and BI to infer the phylogenetic relationships among Heterotaxis species and the closely related genera Nitidobulbon and Ornithidium. Such phylogenies were used as framework to infer how karyotype evolution occurred using statistical methods. The nrDNA recovered Ornithidium, Nitidobulbon and Heterotaxis as monophyletic under both MP and BI; while cpDNA could not completely separate the three genera under both methods. Based on the GS, we recovered two groups within Heterotaxis: (1 "small GS", corresponding to the Sessilis grade, composed of plants with smaller genomes and smaller morphological structure, and (2 "large GS", corresponding to the Discolor clade, composed of plants with large genomes and robust morphological structures. The robust karyotype modeling, using both nrDNA phylogenies, allowed us to infer that the ancestral Heterotaxis karyotype presented 2n = 40, probably with a proximal 45S rDNA on a metacentric chromosome pair. The chromosome number variation was caused by ascending dysploidy (chromosome fission involving the proximal 45S rDNA site resulting in two acrocentric chromosome pairs holding a terminal 45S rDNA, with subsequent descending dysploidy (fusion in two species, H. maleolens and H. sessilis. However, besides dysploidy, our analysis detected another important chromosome rearrangement in the Orchidaceae: chromosome inversion, that promoted 5S rDNA site duplication and relocation.

  6. Karyotype analysis of some Onobrychis (sainfoin) species in Turkey

    OpenAIRE

    Akçelik Somay Esra; Avci S.; Uzun S.; Sancak C.

    2012-01-01

    In this study, karyotype analysis of the species of Onobrychis sp. was undertaken using the squash method. The results showed that the chromosome number of Onobrychis tournefortii (Willd.) Desv., O. gracilis Besser, O. hypargyrea Boiss. is 2n = 14 and O. argyrea Boiss. subsp. argyrea Boiss., 2n = 16. The karyotype formula of O. tournefortii (Willd.) Desv. is 4m+3sm, of O. hypargyrea Boiss. and O. gracilis Besser 3m+4sm, and of O. argyrea Boiss. subsp. argyrea Boiss. 2m+ 5sm+1 st.

  7. Karyotype analysis of some Onobrychis (sainfoin species in Turkey

    Directory of Open Access Journals (Sweden)

    Akçelik Somay Esra

    2012-01-01

    Full Text Available In this study, karyotype analysis of the species of Onobrychis sp. was undertaken using the squash method. The results showed that the chromosome number of Onobrychis tournefortii (Willd. Desv., O. gracilis Besser, O. hypargyrea Boiss. is 2n = 14 and O. argyrea Boiss. subsp. argyrea Boiss., 2n = 16. The karyotype formula of O. tournefortii (Willd. Desv. is 4m+3sm, of O. hypargyrea Boiss. and O. gracilis Besser 3m+4sm, and of O. argyrea Boiss. subsp. argyrea Boiss. 2m+ 5sm+1 st.

  8. [Clustering analysis of karyotype resemblance-near coefficient for 6 Bupleurum species].

    Science.gov (United States)

    Song, Yun; Qiao, Yonggang; Wu, Yuxiang

    2012-04-01

    To explore the genetic evolutionary distance between plants by using karyotype parameters identification of medicinal plants. The cluster analysis of karyotype resemblance-near coefficient and evolutionary distance was used for 6 Bupleurum species. The results showed that there were the biggest karyotype resemblance-near coefficient (0.9920) and the smallest evolutionary distance (D(e) = 0.0080) between B. scorzonerifolium and B. chinense, indicating the closest relationship, and the minimum karyotype resemblance-near coefficient (0.4794) and the maximum evolutionary distance (D(e) = 0.7352) between B. smityii and B. falcatum, indicating the most distant relationship. Karyotype was an important parameter for identification of medicinal plants because karyotype was stabilized for species. The genetic distance between in 6 species of Bupleurum species was obtained by karyotype clustering analysis of karyotype resemblance-near coefficient. There was the bigger evolutionary distance between the species which had different chromosome number.

  9. Correlation of karyotype and immunophenotype in childhood acute lymphoblastic leukemia; experience at the National Cancer Institute, Cairo University, Egypt.

    Science.gov (United States)

    Hamouda, Faiza; El-Sissy, Azza H; Radwan, Ashraf K; Hussein, Hany; Gadallah, Farida H; Al-Sharkawy, Nahla; Sedhom, Eman; Ebeid, Emad; Salem, Shereen I

    2007-06-01

    To identify chromosomal pattern among the major immunophenotypic subgroups in Egyptian children with ALL, and its correlation with clinical presentation and disease free survival. Cytogenetic and immunophenotypic analysis were done for all patients. Patients received ALL-PNCI-III/98 chemotherapy protocol used at NCI, Cairo University. The frequency of pseudodiploidy and normal karyotype in the whole group was 42.9% and 33.3% respectively. The frequency of pseudodiploidy was 36.8% in CALLA positive early pre B, 30.7% in pre B cases, 71.4% in T cell cases and 100% in mature B cell cases. At 12 months, DFS was 50% for pseudodiploid group having pre B phenotype, compared to 16.6% for pseudodiploid group with CALLA positive early pre B ALL. Sixteen percent of the studied cases showed T cell phenotype, 71.4% of them showed pseudodiploid karyotype, all of them had high risk features. Hyperdiploidy was found in 31.5% of CALLA positive early pre B cases and was associated with favorable prognostic features and DFS of 66.6% at 12 months. Hyperdiploidy of >50 chromosome represented 62.5% of hyperdipoid cases, 80% of them were CALLA positive early pre B ALL carrying good risk features. Fifty percent of normal karyotypic patients showed pre B phenotype, while 42.8% showed CALLA positive early pre B ALL. Their age, TLC, DFS, were almost comparable. CALLA early pre B phenotype has a positive impact on chromosomal pattern having best outcome among patients with hyperdiploidy. The Pseudodiploid karyotype carries a better outcome with pre B phenotype.

  10. Brain MRI abnormalities in the adult form of myotonic dystrophy type 1: A longitudinal case series study

    OpenAIRE

    Conforti, Renata; de Cristofaro, Mario; Cristofano, Adriana; Brogna, Barbara; Sardaro, Angela; Tedeschi, Gioacchino; Cirillo, Sossio; Di Costanzo, Alfonso

    2016-01-01

    This study aimed to verify whether brain abnormalities, previously described in patients with myotonic dystrophy type 1 (DM1) by magnetic resonance imaging (MRI), progressed over time and, if so, to characterize their progression. Thirteen DM1 patients, who had at least two MRI examinations, were retrospectively evaluated and included in the study. The mean duration (± standard deviation) of follow-up was 13.4 (±3.8) years, over a range of 7–20 years. White matter lesions (WMLs) were rated by...

  11. Chromosomal abnormalities in a psychiatric population

    Energy Technology Data Exchange (ETDEWEB)

    Lewis, K.E.; Lubetsky, M.J.; Wenger, S.L.; Steele, M.W. [Univ. of Pittsburgh Medical Center, PA (United States)

    1995-02-27

    Over a 3.5 year period of time, 345 patients hospitalized for psychiatric problems were evaluated cytogenetically. The patient population included 76% males and 94% children with a mean age of 12 years. The criteria for testing was an undiagnosed etiology for mental retardation and/or autism. Cytogenetic studies identified 11, or 3%, with abnormal karyotypes, including 4 fragile X positive individuals (2 males, 2 females), and 8 with chromosomal aneuploidy, rearrangements, or deletions. While individuals with chromosomal abnormalities do not demonstrate specific behavioral, psychiatric, or developmental problems relative to other psychiatric patients, our results demonstrate the need for an increased awareness to order chromosomal analysis and fragile X testing in those individuals who have combinations of behavioral/psychiatric, learning, communication, or cognitive disturbance. 5 refs., 1 fig., 2 tabs.

  12. Case study on the pathophysiology of Fabry disease: abnormalities of cellular membranes can be reversed by substrate reduction in vitro.

    Science.gov (United States)

    Brogden, Graham; Shammas, Hadeel; Maalouf, Katia; Naim, Samara L; Wetzel, Gabi; Amiri, Mahdi; von Köckritz-Blickwede, Maren; Das, Anibh M; Naim, Hassan Y

    2017-04-30

    It is still not entirely clear how α-galactosidase A (GAA) deficiency translates into clinical symptoms of Fabry disease (FD). The present communication investigates the effects of the mutation N215S in FD on the trafficking and processing of lysosomal GAA and their potential association with alterations in the membrane lipid composition. Abnormalities in lipid rafts (LRs) were observed in fibroblasts isolated from a male patient with FD bearing the mutation N215S. Interestingly, LR analysis revealed that the distribution of cholesterol and flotillin-2 are distinctly altered in the Fabry fibroblasts when compared with that of the wild-type cells. Furthermore, increased levels of glycolipid globotriaosylceramide 3 (Gb3) and sphingomyelin (SM) were observed in non-raft membrane fractions of Fabry cells. Substrate reduction with N -butyldeoxynojirimycin (NB-DNJ) in vitro was capable of reversing these abnormalities in this patient. These data led to the hypothesis that alterations of LRs may contribute to the pathophysiology of Morbus Fabry. Furthermore, it may be suggested that substrate reduction therapy with NB-DNJ might be a promising approach for the treatment of GAA deficiency at least for the selected patients. © 2017 The Author(s).

  13. Immunological characterization of abnormal prion protein from atypical scrapie cases in sheep using a panel of monoclonal antibodies

    NARCIS (Netherlands)

    Gretzschel, A.; Buschmann, A.; Langeveld, J.P.M.; Groschup, M.H.

    2006-01-01

    After the implementation of an active surveillance programme for scrapie in sheep in the EU, the number of diagnosed classical scrapie cases rose sharply and a novel kind of so-called atypical scrapie case was discovered. These atypical scrapie cases display unusual features concerning the

  14. Karyotypic differences and evolutionary tendencies of some species ...

    Indian Academy of Sciences (India)

    Karyotypic differences and evolutionary tendencies of some species from the subgenus Obliquodesmus Mlad. of genus Scenedesmus Meyen. (Chlorophyta, Chlorococcales). BALIK DZHAMBAZOV1,3 ∗, RUMEN MLADENOV2, IVANKA TENEVA2 and DETELINA BELKINOVA2. 1Cell Biology Laboratory, Department of ...

  15. Karyotype and nucleic acid content in Zantedeschia aethiopica Spr ...

    African Journals Online (AJOL)

    Analysis of karyotype, nucleic deoxyribonucleic acid (DNA) content and sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) were performed in Zantedeschia aethiopica and Zantedeschia elliottiana. Mitotic metaphase in both species showed 2n=32. The chromosomes of both species were quite similar ...

  16. Karyotype analysis in octoploid and decaploid wild strawberries, Fragaria (Rosaceae)

    Science.gov (United States)

    The 20 wild species of strawberries in the genus Fragaria (Rosaceae), have a euploid series including diploid (2n = 2x = 14) through decaploid (2n = 10x = 70) members. Karyotyping has not been thoroughly examined. The objective of this research was to determine the chromosomal morphology and karyoty...

  17. Outcome of fetuses with enlarged nuchal translucency and normal karyotype

    NARCIS (Netherlands)

    Bilardo, C. M.; Pajkrt, E.; de Graaf, I.; Mol, B. W.; Bleker, O. P.

    1998-01-01

    The aim of this study was to examine the relationship between nuchal translucency measurements and outcome of pregnancy with special regard to fetuses with an enlarged nuchal translucency and a normal karyotype. Fetal nuchal translucency measurements were performed on consecutive mothers attending

  18. A Fluorescence In Situ Hybridization System for Karyotyping Soybean

    Science.gov (United States)

    The development of a universal soybean (Glycine max [L.] Merr.) cytogenetic map that associates classical genetic linkage groups, molecular linkage groups and a sequence-based physical map with the karyotype has been impeded due to the soybean chromosomes themselves, which are tiny and morphological...

  19. Karyotype analyses of the species of the genus Jurinea Cass ...

    African Journals Online (AJOL)

    user

    2011-01-31

    Jan 31, 2011 ... 1Selcuk University, Education Faculty, Department of Science Education, Konya, Turkey. 2Selcuk University, Education .... at the KNYA and Selcuk University Faculty of Education herbaria. (Appendix). For karyotypes, root tips ..... numbers of phanerogams from Morocco and Algeria. Bot. Not. 131: 391-406.

  20. Karyotype and C-banding analyses of haploid male chromosomes ...

    African Journals Online (AJOL)

    ONOS

    2010-07-05

    Jul 5, 2010 ... Chromosomes, with detailed karyotype information (number, shape, total length, relative length, arm ratio and centromeric index) and C-banding patterns in the somatic division of haploid male of Apis florae in Iran are described. Samples were obtained from the colonies in south of Iran. Prior to the.

  1. Karyotype and C-banding analyses of haploid male chromosomes ...

    African Journals Online (AJOL)

    Chromosomes, with detailed karyotype information (number, shape, total length, relative length, arm ratio and centromeric index) and C-banding patterns in the somatic division of haploid male of Apis florae in Iran are described. Samples were obtained from the colonies in south of Iran. Prior to the swarming season, ...

  2. Karyotypic differences and evolutionary tendencies of some species ...

    Indian Academy of Sciences (India)

    Karyotypic differences and evolutionary tendencies of some species from the subgenus Obliquodesmus Mlad. of genus Scenedesmus Meyen (Chlorophyta, ... Department of Experimental Medical Science, BMC I 11, Lund University, 22184 Lund, Sweden; Department of Botany, University of Plovdiv, 24 Tsar Assen St., 4000 ...

  3. Karyotype analyses of the species of the genus Jurinea Cass ...

    African Journals Online (AJOL)

    In this study, karyotype analyses of 13 species belonging to the genus Jurinea Cass. (Compositae) and grown naturally in Turkey were conducted. These taxa include Jurinea alpigena C. Koch, Jurinea ancyrensis Bornm., Jurinea aucherana DC., Jurinea cadmea Boiss., Jurinea cataonica Boiss. and Hausskn., Jurinea ...

  4. Karyotype and nucleic acid content in Zantedeschia aethiopica Spr ...

    African Journals Online (AJOL)

    DR. NJ TONUKARI

    2012-07-03

    Jul 3, 2012 ... Analysis of karyotype, nucleic deoxyribonucleic acid (DNA) content and sodium dodecyl sulfate polyacrylamide ... base pairs) for Z. aethiopica and 1144.26 ± 0.05 picograms (equivalent to 1144.26 mega base pairs) for Z. elliottiana. ... ml ice-cold nuclei-isolation buffer A of the Partec high resolution. DNA kit ...

  5. Analyses of karyotypes and comparative physical locations of the ...

    African Journals Online (AJOL)

    STORAGESEVER

    2009-11-02

    Nov 2, 2009 ... in situ hybridization (FISH) using a BAC clone and an RFLP marker from O. sativa as probes. Key words: BAC-FISH, karyotype, Oryza sativa, Oryza officinalis, physical location, Xa-5. INTRODUCTION. A wild rice is an important resource of new resistance genes obtained from the natural selective stresses of ...

  6. Karyotype evolution in harvestmen of the suborder Cyphophthalmi (Opiliones)

    Czech Academy of Sciences Publication Activity Database

    Svojanovská, H.; Nguyen, Petr; Hiřman, M.; Tuf, I. H.; Wahab, R. A.; Haddad, C. R.; Šťáhlavský, F.

    2016-01-01

    Roč. 148, 2-3 (2016), s. 227-236 ISSN 1424-8581 R&D Projects: GA ČR(CZ) GP14-35819P Institutional support: RVO:60077344 Keywords : 18S rDNA * FISH * karyotype evolution Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.354, year: 2016

  7. Karyotype studies in some species of the family annonaceae ...

    African Journals Online (AJOL)

    A pair of satellited chromosomes was observed in the genome of Greenwayodendron suaveolens and Cleistopholis patens. The centromeric positions in the species of ... The karyotypic patterns suggest that there is no evidence of chromosome rearrangement in their evolution. IFE Journal of Science Vol. 9 (2) 2007 pp.

  8. The karyotype and taxonomic status of Cryptomys hottentotus darlingi

    African Journals Online (AJOL)

    The karyotype and taxonomic status of. Cryptomys hottentotus darlingi (Rodentia: Bath yergid ae). G.H, Aguilar. Department of ZOOlogy, University of Cape Town, Ronde- ..... Classification of southern African mammals. Transvaal Mus. MOflogr. 5: 1-359. NEVO. E .. CAP ANNA. E .. CORTI. M .. JARVIS. LU.M. &. HICKMAN.

  9. RESEARCH NOTE Double trisomy (XXX+21 karyotype) in a six ...

    Indian Academy of Sciences (India)

    Claudia Talero Gutierrez

    her auditory responses in hearing tests were normal. Two previous karyotype studies showed. 47, XXX, +21 anomalies. The occurrence of double trisomy ... From a visual point of view, although the mother reported that her vision test was not normal, the child did not use corrective lenses. Her anthropometric measurements ...

  10. Chromosome Evolution in the Free-Living Flatworms: First Evidence of Intrachromosomal Rearrangements in Karyotype Evolution of Macrostomum lignano (Platyhelminthes, Macrostomida).

    Science.gov (United States)

    Zadesenets, Kira S; Ershov, Nikita I; Berezikov, Eugene; Rubtsov, Nikolay B

    2017-10-30

    The free-living flatworm Macrostomum lignano is a hidden tetraploid. Its genome was formed by a recent whole genome duplication followed by chromosome fusions. Its karyotype (2n = 8) consists of a pair of large chromosomes (MLI1), which contain regions of all other chromosomes, and three pairs of small metacentric chromosomes. Comparison of MLI1 with metacentrics was performed by painting with microdissected DNA probes and fluorescent in situ hybridization of unique DNA fragments. Regions of MLI1 homologous to small metacentrics appeared to be contiguous. Besides the loss of DNA repeat clusters (pericentromeric and telomeric repeats and the 5S rDNA cluster) from MLI1, the difference between small metacentrics MLI2 and MLI4 and regions homologous to them in MLI1 were revealed. Abnormal karyotypes found in the inbred DV1/10 subline were analyzed, and structurally rearranged chromosomes were described with the painting technique, suggesting the mechanism of their origin. The revealed chromosomal rearrangements generate additional diversity, opening the way toward massive loss of duplicated genes from a duplicated genome. Our findings suggest that the karyotype of M. lignano is in the early stage of genome diploidization after whole genome duplication, and further studies on M. lignano and closely related species can address many questions about karyotype evolution in animals.

  11. Chromosome Evolution in the Free-Living Flatworms: First Evidence of Intrachromosomal Rearrangements in Karyotype Evolution of Macrostomum lignano (Platyhelminthes, Macrostomida

    Directory of Open Access Journals (Sweden)

    Kira S. Zadesenets

    2017-10-01

    Full Text Available The free-living flatworm Macrostomum lignano is a hidden tetraploid. Its genome was formed by a recent whole genome duplication followed by chromosome fusions. Its karyotype (2n = 8 consists of a pair of large chromosomes (MLI1, which contain regions of all other chromosomes, and three pairs of small metacentric chromosomes. Comparison of MLI1 with metacentrics was performed by painting with microdissected DNA probes and fluorescent in situ hybridization of unique DNA fragments. Regions of MLI1 homologous to small metacentrics appeared to be contiguous. Besides the loss of DNA repeat clusters (pericentromeric and telomeric repeats and the 5S rDNA cluster from MLI1, the difference between small metacentrics MLI2 and MLI4 and regions homologous to them in MLI1 were revealed. Abnormal karyotypes found in the inbred DV1/10 subline were analyzed, and structurally rearranged chromosomes were described with the painting technique, suggesting the mechanism of their origin. The revealed chromosomal rearrangements generate additional diversity, opening the way toward massive loss of duplicated genes from a duplicated genome. Our findings suggest that the karyotype of M. lignano is in the early stage of genome diploidization after whole genome duplication, and further studies on M. lignano and closely related species can address many questions about karyotype evolution in animals.

  12. Chromosomal abnormality in patients with secondary amenorrhea.

    Science.gov (United States)

    Safai, Akbar; Vasei, Mohammad; Attaranzadeh, Armin; Azad, Fariborz; Tabibi, Narjes

    2012-04-01

    Secondary amenorrhea is a condition in which there is cessation of menses after at least one menstruation. It is a symptom of different diseases, such as hormonal disturbances which range from pituitary to ovarian origin, as well as chromosomal abnormalities. Knowledge of the distinct cause of secondary amenorrhea is of tremendous benefit for the management and monitoring of patients. In this study, we determine the chromosomal abnormalities in patients with secondary amenorrhea in Southwest Iran. We selected 94 patients with secondary amenorrhea who referred to our Cytogenetic Ward from 2004 until 2009. For karyotyping, peripheral blood lymphocyte cultures were set up by conventional technique. In this study, 5.3% (n=5) of patients with secondary amenorrhea presented with chromosomal abnormalities, of which all contained an X element. The chromosomal abnormalities were: i) 45, X (n=1); ii) 47, XXX (n=1); iii) 45, X [13]/ 45, Xi(X)q[17] (n=1);  iv) 45, X[12]/46,X,+mar[12] (n=1); and v) 46,X,del(Xq)(q23q28) (n=1). Our study revealed that some causes of secondary amenorrhea could be due to chromosomal abnormalities. Therefore, cytogenetic studies should be important tests in the evaluation of patients with secondary amenorrhea.

  13. Analysis of the karyotype of expanded human adipose-derived stem cells for bone reconstruction of the maxillo-facial region.

    Science.gov (United States)

    Bellotti, C; Stanco, D; Ragazzini, S; Romagnoli, L; Martella, E; Lazzati, S; Marchetti, C; Donati, D; Lucarelli, E

    2013-01-01

    Mesenchymal stem cells (MSC) and adipose-derived stem cells (ASC) were recently proposed for bone maxillofacial reconstruction in association with biomaterials. For this application MSC must be ex-vivo expanded in order to obtain, for a given volume of implanted biomaterial, a relevant number of bone forming cells. Previously conducted pre-clinical studies suggested that a concentration of 6 x 10(8) ASC associated with 900 mg of anorganic bovine bone (ABB) could be effective for human maxillary sinus floor elevation. A keystone issue to guarantee the quality and safety of Advanced Therapy Medicinal Products containing expanded MSC and ASC is their chromosome stability in culture: this topic has been widely investigated and conflicting results have been published. Abnormal karyotype of human ex-vivo expanded MSC and ASC was found by some authors, while, at the same time, several other studies showed the MSC and ASC karyotype to be normal. It is therefore important that all the results obtained on MSC and ASC karyotype analysis be published. Given this context, the aim of this manuscript, aim of this manuscript is to verify the karyotype stability of ASC in view of their applications in clinical trials. ASC obtained from the adipose tissue of 4 donors were expanded over extended culture time. Based on previous ASC expansions we hypothesized to be able to obtain 6 x 10(8) cells by passage 7. Karyotype analysis of 30 metaphases was planned to be investigated at passage 2, 7, and 15 in all the cultures. No abnormalities were found in the karyotype of two donors at all the passages tested, while a translocation was found in 2 metaphases of a donor at passage 7, but not at passage 15, and in the fourth donor in 5 metaphases a trisomy was found at passage 15. Chromosomal abnormalities were detected only after extended ASC expansion. Whether these anomalies can be related to risk for the patient's safety will have to be demonstrated by in-vivo studies.

  14. Role of 99mTc-ECD brain SPECT in the detection of cerebral perfusion abnormality in cases of Attention Deficit Hyperactivity Disorder

    International Nuclear Information System (INIS)

    Kumar, A.; Phom, H.; Thomas, E.J.; Tripathi, M.; Chandrashekar, N.; Bal, C.S.; Zamir, H.; Gulati, S.; Kalra, V.

    2002-01-01

    Aim: A randomized placebo controlled drug trial with Mentat, a herbal pharmacological agent, was initiated in January 2000 in the department of pediatrics at AIIMS, New Delhi, to compare the efficacy of Mentat with a placebo in school children with Attention Deficit Hyperactivity Disorder (ADHD). Materials and Methods: Contact was established with 12 Public schools in Delhi, to identify poor performers in classes I-V (age 6-12 yrs.). About 195 children with poor school performance were recruited in the study. They were screened for causes of poor performance, which included attention problems, hyperactivity, behavior problems, emotional problems, mental sub-normality and learning disability. ADHD suspected children were identified using the Malin's WISC, Connor's rating scale, Problem Behavior checklist, Bender Gestalt test and some sub tests of the Kaufman's Assessment Battery for Children (K-ABC). Sixty children diagnosed as ADHD (using DSM-IV criteria), with an IQ between 90-110, were enrolled into the study. Of the 60 children randomized in the study, 30 received Mentat and 30 received an identical looking placebo. The drug/Placebo was given for a six-month period. 99mTC-ECD brain SPECT was performed in a subset of 34 children with ADHD. Results: Abnormal cerebral perfusion was seen in 23/34; thalamic hypoperfusion in 11, basal ganglia hypoperfusion in 9, thalamus and basal ganglia hypoperfusion in 2 and basifrontal hypoperfusion in 1. So far, in ten children with abnormal pretreatment scans, post treatment scans have also been done. In mentat group, 2/5 children showed normalization of perfusion abnormality after treatment whereas in placebo group, 1/5. Conclusion: This study suggests that there is selective focal cerebral hypoperfusion in cases of ADHD and 99mTc-ECD brain SPECT can be used for evaluation and further monitoring of therapeutic outcome in such cases

  15. Síndrome oral-facial-digital: relato de um caso com anomalias do sistema nervoso central Oral-facial-digital syndrome: report of a case with abnormalities of the central nervous system

    Directory of Open Access Journals (Sweden)

    Gerson Carakushansky

    1974-06-01

    Full Text Available É relatado um caso de síndrome oral-facial-digital em paciente com anomalias do sistema nervoso central. Os autores fazem um revisão da literatura a procura de outros casos em que tais anomalias também estivessem presentes. A cariotipagem foi normal.The case of a 3-month-old-female infant with oral-facial-digital malformations is reported. Ventriculogram disclosed widened lateral ventricles with lack of communication with the cisterna magna probably because of congenital defect in the formation of the aqueduct of Sylvius. There was communication with a porencephalic cyst present in the anterior fossa. A review of the literature indicates that porencephalies and hydrocephalus appear to be fairly common malformations associated with the OFD syndrome. Dermatoglyphic studies have shown an excess of whorl patterns on the digits. The karyotype was 46,XX.

  16. [Phenotypic variability in 47, XXX patients: Clinical report of four new cases].

    Science.gov (United States)

    Goldschmidt, Ernesto; Márquez, Marisa; Solari, Andrea; Ziembar, María I; Laudicina, Alejandro

    2010-08-01

    The 47, XXX karyotype has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. These patients are usually diagnosed during adulthood when they develop premature ovarian failure or infertility, because the early phenotype doesn t have any specific features. The study describes four cases and the clinical variability of the 47, XXX karyotype.

  17. Possible association of first and high birth order of pregnant women with the risk of isolated congenital abnormalities in Hungary - a population-based case-matched control study.

    Science.gov (United States)

    Csermely, Gyula; Susánszky, Éva; Czeizel, Andrew E; Veszprémi, Béla

    2014-08-01

    In epidemiological studies at the estimation of risk factors in the origin of specified congenital abnormalities in general birth order (parity) is considered as confounder. The aim of this study was to analyze the possible association of first and high (four or more) birth order with the risk of congenital abnormalities in a population-based case-matched control data set. The large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities included 21,494 cases with different isolated congenital abnormality and their 34,311 matched controls. First the distribution of birth order was compared of 24 congenital abnormality groups and their matched controls. In the second step the possible association of first and high birth order with the risk of congenital abnormalities was estimated. Finally some subgroups of neural-tube defects, congenital heart defects and abdominal wall's defects were evaluated separately. A higher risk of spina bifida aperta/cystica, esophageal atresia/stenosis and clubfoot was observed in the offspring of primiparous mothers. Of 24 congenital abnormality groups, 14 had mothers with larger proportion of high birth order. Ear defects, congenital heart defects, cleft lip± palate and obstructive defects of urinary tract had a linear trend from a lower proportion of first born cases to the larger proportion of high birth order. Birth order showed U-shaped distribution of neural-tube defects and clubfoot, i.e. both first and high birth order had a larger proportion in cases than in their matched controls. Birth order is a contributing factor in the origin of some isolated congenital abnormalities. The higher risk of certain congenital abnormalities in pregnant women with first or high birth order is worth considering in the clinical practice, e.g. ultrasound scanning. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  18. Case of Infective Endocarditis in a Child with Multiple Congenital Abnormalities: Clinical-Echocardiographic and Pathomorphological Analysis

    Directory of Open Access Journals (Sweden)

    V.O. Kondratyev

    2014-05-01

    Full Text Available The article presents a case of infective endocarditis, developed in the postoperative period in a child aged 1 year 10 months with Down syndrome, multiple congenital malformations of the heart and gastrointestinal tract. Clinical case demonstrated the role of risk factors in the development of infective endocarditis in a child: congenital heart disease, repeated surgical interventions, prolonged intravenous administration of drugs using venous catheters, bacteremia. Clinical case proved coincidence of data of echocardiographic examination on ultrasound density of cardiac membranes and structures with these pathomorphological and histologic examination.

  19. Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience

    Directory of Open Access Journals (Sweden)

    Carmen Comas

    2012-11-01

    Full Text Available Objective: To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA over a 13-year period and correlate them to changes in the national prenatal screening policy. Methods: We retrospectively reviewed Down syndrome (DS screening tests and fetal karyotypes obtained by prenatal invasive testing (IT in our fetal medicine unit between January 1999 and December 2011. Results: A total of 24,226 prenatal screening tests for DS and 11,045 invasive procedures have been analyzed. Over a 13-year period, utilization of non-invasive screening methods has significantly increased from 57% to 89%. The percentage of invasive procedures has declined from 49% to 12%, although the percentage of IT performed for maternal anxiety has increased from 22% to 55%. The percentage of detected CA increased from 2.5% to 5.9%. Overall, 31 invasive procedures are needed to diagnose 1 abnormal case, being 23 procedures in medical indications and 241 procedures in non-medical indications. Conclusions: Our experience on screening and invasive prenatal diagnostic practice shows a decrease of the number of IT, with a parallel decline in medical indications. There is an increasing efficiency of prenatal screening program to detect CA. Despite the increasing screening policies, our population shows a growing request for prenatal IT. The a priori low risk population shows a not negligible residual risk for relevant CA. This observation challenges the current prenatal screening strategy focused on DS; showing that the residual risk is higher than the current cut-off used to indicate an invasive technique.

  20. Ophthalmic Treatment and Vision Care of a Patient with Rare Ring Chromosome 15: A Case Report

    Directory of Open Access Journals (Sweden)

    Lidia Puchalska-Niedbał

    2014-01-01

    Full Text Available The Aim. Ring chromosome 15 is a very rare genetic abnormality with a wide spectrum of clinical findings. Up to date, about 50 cases have been documented, whereas no reports on ophthalmological treatment of such patients have been published. The aim of this study is not only to describe a new patient, but also, for the first time, to present the results of nonoperative management of divergent strabismus. Material and Methods. We present an amblyopic patient with 46,XX, r(15 karyotype: treated conservatively for exotropia of 60 prism diopters. The management consisted of refractive and prismatic correction, eye occlusion, and orthoptic exercises between the age of 15 months and 8 years. Results. The deviation angle of exotropia was decreased to 10 prism diopters, the visual acuity improved to 1.0 in both eyes (Snellen chart and the fixation pattern was normal. The prisms enabled permanent symmetrical stimulation of the retina, which lead to a development of normal single binocular vision (Maddox test, filter test, and synoptophore tests. Conclusions. Parental karyotype was normal; the analysis of a three-generation pedigree has shown no genetic abnormalities or pregnancy losses so the child’s karyotype anomaly was classified as de novo that is a single occurrence of this type of chromosomal disorder in this family. Strabismus in ring chromosome 15 patients is a difficult condition to manage, although success may be achieved.

  1. Some case studies of skewed (and other ab-normal) data distributions arising in low-level environmental research

    International Nuclear Information System (INIS)

    Currie, L.A.

    2001-01-01

    Three general classes of skewed data distributions have been encountered in research on background radiation, chemical and radiochemical blanks, and low levels of 85 Kr and 14 C in the atmosphere and the cryosphere. The first class of skewed data can be considered to be theoretically, or fundamentally skewed. It is typified by the exponential distribution of inter-arrival times for nuclear counting events for a Poisson process. As part of a study of the nature of low-level (anti-coincidence) Geiger- Mueller counter background radiation, tests were performed on the Poisson distribution of counts, the uniform distribution of arrival times, and the exponential distribution of inter-arrival times. The real laboratory system, of course, failed the (inter-arrival time) test - for very interesting reasons, linked to the physics of the measurement process. The second, computationally skewed, class relates to skewness induced by non-linear transformations. It is illustrated by non-linear concentration estimates from inverse calibration, and bivariate blank corrections for low-level 14 C- 12 C aerosol data that led to highly asymmetric uncertainty intervals for the biomass carbon contribution to urban ''soot''. The third, environmentally skewed, data class relates to a universal problem for the detection of excursions above blank or baseline levels: namely, the widespread occurrence of ab-normal distributions of environmental and laboratory blanks. This is illustrated by the search for fundamental factors that lurk behind skewed frequency distributions of sulfur laboratory blanks and 85 Kr environmental baselines, and the application of robust statistical procedures for reliable detection decisions in the face of skewed isotopic carbon procedural blanks with few degrees of freedom. (orig.)

  2. Radiological abnormalities of the skeleton in patients with sickle-cell anemia. A study of 222 cases in Tunisia

    Energy Technology Data Exchange (ETDEWEB)

    Ben Dridi, M.F.; Oumaya, A.; Gastli, H.; Doggaz, C.; Bousnina, S.; Fattoum, S.; Ben Osman, R.; Gharbi, H.A.

    1987-05-01

    The way in which bones are affected in cases of sickle-cell anemia is well known. Nevertheless, advances in treatment and in methods of transfusion mean that we are increasingly seeing cases of older patients with this disease. A retrospective analysis of 222 cases of sickle-cell anemia demonstrates the radiological appearance of the skeleton in the disease and reveals the various bone segments which are particularly vulnerable at certain periods of life. Correlation of X-rays permits the discovery of lesions which are not clinically apparent. The frequency and characteristics of epiphyseal osteonecrosis and osteitis are studied. Aggravation of the bone lesions when corticoids are administered poses the problem of differential diagnosis of the disease, especially in comparison with rheumatic fever.

  3. Karyotype and nuclear DNA content of Trichomycterus areolatus (Siluriformes, Trichomycteridae

    Directory of Open Access Journals (Sweden)

    Nelson Colihueque

    2006-01-01

    Full Text Available Cytogenetic analysis of Trichomycterus areolatus, collected from the Tijeral and Huilma Rivers in southern Chile has shown a diploid chromosome number of 2n = 54, a fundamental number of FN = 106, and a karyotypic formula of 44m + 8sm + 2st. Intra-individual polymorphism of chromosome number (2n = 54, 55 and 56 in specimens from the Huilma River has also been documented, providing further evidence of the occurrence of this phenomenon in Trichomycterus. The karyotype exhibited large chromosome pairs: metacentric pairs 1 (relative length 7.54%, 2 (5.75% and 3 (5.09%, submetacentric pair 23 (5.25%, and subtelocentic pair 27 (5.28%. Nuclear DNA content analysis showed an average value of 5.04 ± 1.09 pg/nucleus. This DNA content is higher than the mean value described for other species in this genus.

  4. Monosomal karyotype in myeloid neoplasias: a literature review.

    Science.gov (United States)

    Anelli, Luisa; Pasciolla, Crescenza; Zagaria, Antonella; Specchia, Giorgina; Albano, Francesco

    2017-01-01

    In 2008, the concept of the monosomal karyotype (MK) in adult acute myeloid leukemia (AML) patients was introduced, defined by the presence of a chromosomal aberration pattern characterized by the presence of at least two autosomal monosomies or of one monosomy plus one or more structural aberrations (not including loss of a chromosome). We present a systematic review of the literature about the influence of the MK on the outcome of patients affected by myeloid malignancies (AML, myelodysplastic syndromes, and primary myelofibrosis). For this review, a comprehensive literature search using the term "monosomal karyotype" was performed, considering articles listed in MEDLINE. This analysis of the literature confirms the negative prognostic impact on survival of the MK in myeloid neoplasias. The detrimental effect of MK on AML patients' outcome is independent of other variables, including adverse cytogenetic features, supporting the identification of this entity as a challenging subgroup of patients with distinct biologic and clinical features.

  5. The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature.

    Science.gov (United States)

    Vasudevan, Pradeep C; Cohen, Marta C; Whitby, Elspeth H; Anumba, Dilly O C; Quarrell, Oliver W J

    2006-03-01

    We present two cases of OEIS (omphalocele, exstrophy, imperforate anus, spinal defects) complex -MIM 258040 and a review of the literature. Case 1 was a 14-year-old girl who presented at 30 weeks' gestation. An ultrasound examination showed an omphalocele and spina bifida; the bladder was not visualised. She went into spontaneous labour two weeks later and the baby died shortly after birth. A full post-mortem examination was refused, but the mother did agree to an external examination, skin biopsy for fibroblast culture, X rays and MR imaging. The MR imaging showed a pelvic kidney, a large omphalocele containing the other kidney, liver, bowel and a fluid filled structure thought to represent an exstrophy of the bladder (EB). Case 2 was a 30-year-old woman who had an ultrasound examination at 20 weeks' gestation; this showed an omphalocele, but the bladder was not visualised. The pregnancy was subsequently terminated and a post-mortem examination showed a low set umbilical cord associated with a small omphalocele; there was an imperforate anus; a blind ending rectum terminated in the omphalocele. We conclude that these two cases illustrate the variability of the OEIS complex. 2006 John Wiley & Sons, Ltd.

  6. Clinical expression of Menkes disease in females with normal karyotype

    DEFF Research Database (Denmark)

    Møller, Lisbeth Birk; Lenartowicz, Malgorzata; Zabot, Marie-Therese

    2012-01-01

    Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are mosaics of wild-type and mutant cells due to the random X inactivation, and they are rarely affected. In the largest cohort of ...... patients reported so far which consists of 517 families we identified 9 neurologically affected carriers with normal karyotypes....

  7. Reconstruction of the ancestral marsupial karyotype from comparative gene maps

    Science.gov (United States)

    2013-01-01

    Background The increasing number of assembled mammalian genomes makes it possible to compare genome organisation across mammalian lineages and reconstruct chromosomes of the ancestral marsupial and therian (marsupial and eutherian) mammals. However, the reconstruction of ancestral genomes requires genome assemblies to be anchored to chromosomes. The recently sequenced tammar wallaby (Macropus eugenii) genome was assembled into over 300,000 contigs. We previously devised an efficient strategy for mapping large evolutionarily conserved blocks in non-model mammals, and applied this to determine the arrangement of conserved blocks on all wallaby chromosomes, thereby permitting comparative maps to be constructed and resolve the long debated issue between a 2n = 14 and 2n = 22 ancestral marsupial karyotype. Results We identified large blocks of genes conserved between human and opossum, and mapped genes corresponding to the ends of these blocks by fluorescence in situ hybridization (FISH). A total of 242 genes was assigned to wallaby chromosomes in the present study, bringing the total number of genes mapped to 554 and making it the most densely cytogenetically mapped marsupial genome. We used these gene assignments to construct comparative maps between wallaby and opossum, which uncovered many intrachromosomal rearrangements, particularly for genes found on wallaby chromosomes X and 3. Expanding comparisons to include chicken and human permitted the putative ancestral marsupial (2n = 14) and therian mammal (2n = 19) karyotypes to be reconstructed. Conclusions Our physical mapping data for the tammar wallaby has uncovered the events shaping marsupial genomes and enabled us to predict the ancestral marsupial karyotype, supporting a 2n = 14 ancestor. Futhermore, our predicted therian ancestral karyotype has helped to understand the evolution of the ancestral eutherian genome. PMID:24261750

  8. Karyotype of the yellow-bellied sea snake, Pelamis platurus

    OpenAIRE

    Gutiérrez, José María; Bolaños Herrera, Róger

    1980-01-01

    In this paper we describe the karyotype of the yellow-bellied sea snake, Pelamis platurus from Costa Rica. The diploid number is 38 chromosomes, with 20 macrochromosomes and 18 microchromosomes. The pairs 1 and 2 are metacentrics, pair 3 is subtelocentric and pairs from 4 to 9 have the centromere in a terminal position. Females have a pair of slightly heteromorphic chromosomes identified as sex chromosomes Z and W; both are metacentrics but have different centromeric index and W is slightly s...

  9. Analyses of karyotypes and comparative physical locations of the ...

    African Journals Online (AJOL)

    The frequencies of signal detection of the marker, RG556 and the BAC clone, 44B4, were 8.0 and 41.3% in O. sativa, while 9.0 and 42.3% in O. officinalis, respectively. Based on a comparative RFLP map of a wild rice, O. officinalis and O. sativa, comparative analyses of karyotypes of O. officinalis were demonstrated firstly ...

  10. Neurologic abnormalities as the predominant signs of neoplasia of the nasal cavity in dogs and cats: seven cases (1973-1986)

    International Nuclear Information System (INIS)

    Smith, M.O.; Turrel, J.M.; Bailey, C.S.; Cain, G.R.

    1989-01-01

    Neurologic abnormalities were the predominant historic and physical findings in 5 dogs and 2 cats with primary nasal cavity tumors that had invaded the cranial vault. Seizures, behavior changes, and obtundation were the most common signs. Other neurologic signs included paresis, ataxia, circling, visual deficit, and proprioceptive deficit. Although 1 dog and 2 cats had historic findings of mild respiratory disease, no physical abnormalities related to the respiratory tract were found in any of the 7 animals. Nasal cavity neoplasia was suggested by radiographic and computed tomographic studies and was confirmed histopathologically in each case. The nasal tumor types in the 5 dogs were epidermoid carcinoma (n = 1), adenocarcinoma (n = 2), solid carcinoma (n = 1), and anaplastic chondrosarcoma (n = 1). An esthesioneuroblastoma was found in each cat. Radiation therapy was effective for 3 months in palliating the clinical signs in the 2 dogs in which it was used. Neoplasia of the nasal cavity should be considered in the differential diagnosis for animals with neurologic signs suggestive of cerebral disorders

  11. False diagnosis of type 1 diabetes mellitus and its complications in Wolfram syndrome--is it the reason for the low number of reported cases of this abnormality?

    Science.gov (United States)

    Homa, Katarzyna; Stefański, Adam; Zmysłowska, Agnieszka; Molęda, Piotr; Bryśkiewicz, Marta Ewa; Majkowska, Liliana

    2014-01-01

    Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a rare autosomal recessive syndrome (1/770,000 in the United Kingdom), characterised by juvenile onset of diabetes mellitus, optic nerve atrophy, diabetes insipidus, sensorineural deafness, renal tract and neurological abnormalities, and primary gonadal atrophy. WS is caused mainly by biallelic mutations in the WFS1 gene, which encodes wolframin. Wide tissue distribution of wolframin and many mutations in the wolframin gene resulting in Wolfram syndrome may contribute to different phenotypes and the unusual combinations of clinical features. We describe a female patient with Wolfram syndrome diagnosed at the age of 25, with a previous false diagnosis of type 1 diabetes mellitus and misdiagnosed diabetic complications. The patient was found to be a compound heterozygote for two novel mutations in exon 8 of WFS1 gene: a 2-bp deletion AT at nt 1539 leading to a frameshift (Y513fs) and a single-base substitution 1174C > T resulting in a stop codon (Q392X). A detailed analysis of the patient's medical history and a review of the literature suggest that many cases of Wolfram syndrome may remain undiagnosed due to misdiagnosis as type 1 diabetes mellitus and incorrect interpretation of clinical symptoms of neurodegenerative abnormalities, especially in their early stages.

  12. Anti-Müllerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment.

    Science.gov (United States)

    Visser, Jenny A; Hokken-Koelega, Anita C S; Zandwijken, Gladys R J; Limacher, Andreas; Ranke, Michael B; Flück, Christa E

    2013-07-01

    In girls and adolescents with Turner syndrome (TS), is there a correlation between serum AMH levels and karyotype, spontaneous puberty and other biochemical markers of ovarian function, or growth hormone (GH) therapy? Serum anti-Müllerian hormone (AMH) correlates with karyotype, pubertal development, LH, FSH and are measurable in a higher percentage of TS patients under GH therapy. Most girls with TS suffer from incomplete sexual development, premature ovarian failure and infertility due to abnormal ovarian folliculogenesis. Serum AMH levels reflect the ovarian reserve in females, even in childhood. Cross-sectional study investigating 270 karyotype proven TS patients aged 0-20 years between 2009 and 2010. Studies were conducted at three University Children's hospitals in Europe. Main outcome measures were clinical data concerning pubertal development as well as laboratory data including karyotype, serum AMH, LH, FSH, estradiol (E2), inhibin B and IGF. RESULTS AND THE ROLE OF CHANCE: Serum AMH was detectable in 21.9% of all TS girls and correlated strongly with karyotypes. A measurable serum AMH was found in 77% of TS girls with karyotype 45,X/46,XX, in 25% with 'other' karyotypes and in only 10% of 45,X TS girls. A strong relationship was also observed for measurable serum AMH and signs of spontaneous puberty such as breast development [adjusted odds ratio (OR) 19.3; 95% CI 2.1-175.6; P = 0.009] and menarche (crude OR 47.6; 95% CI 4.8-472.9; P = 0.001). Serum AMH correlated negatively with FSH and LH, but did not correlate with E2 and inhibin B. GH therapy increased the odds of having measurable AMH in TS (adjusted OR 4.1; 95% CI 1.9-8.8; P < 0.001). The cross-sectional design of the study does not allow longitudinal interpretation of the data; for that further studies are needed. High percentage of non-measurable AMH levels in the cohort of TS require categorized analysis.

  13. Holokinetic centromeres and efficient telomere healing enable rapid karyotype evolution.

    Science.gov (United States)

    Jankowska, Maja; Fuchs, Jörg; Klocke, Evelyn; Fojtová, Miloslava; Polanská, Pavla; Fajkus, Jiří; Schubert, Veit; Houben, Andreas

    2015-12-01

    Species with holocentric chromosomes are often characterized by a rapid karyotype evolution. In contrast to species with monocentric chromosomes where acentric fragments are lost during cell division, breakage of holocentric chromosomes creates fragments with normal centromere activity. To decipher the mechanism that allows holocentric species an accelerated karyotype evolution via chromosome breakage, we analyzed the chromosome complements of irradiated Luzula elegans plants. The resulting chromosomal fragments and rearranged chromosomes revealed holocentromere-typical CENH3 and histone H2AThr120ph signals as well as the same mitotic mobility like unfragmented chromosomes. Newly synthesized telomeres at break points become detectable 3 weeks after irradiation. The presence of active telomerase suggests a telomerase-based mechanism of chromosome healing. A successful transmission of holocentric chromosome fragments across different generations was found for most offspring of irradiated plants. Hence, a combination of holokinetic centromere activity and the fast formation of new telomeres at break points enables holocentric species a rapid karyotype evolution involving chromosome fissions and rearrangements.

  14. A case of acute lymphoblastic leukemia with abnormal brain CT scan after cranial irradiation for central nervous system leukemia

    International Nuclear Information System (INIS)

    Sato, Junko; Abe, Takanori; Watanabe, Tsutomu

    1988-01-01

    A 21-year-old woman with acute lymphoblastic leukemia presented with central neurologic symptoms immediately after the second irradiation (20 Gy to the brain and 10 Gy to the spinal cord) for central nervous system (CNS)-leukemia 3 years and 2 months after the first cranial irradiation with 20 Gy. White matter was depicted as diffusely high density area on CT; histology revealed necrosis of leukemic cells. In the present patient with repeated recurrent CNS-leukemia, leukemic cells seemed to have been damaged simultaneously after irradiation because of parenchymal widespread involvement of leukemic cells, resulting in brain edema, an increased intracranial pressure and parenchymal disturbance. This finding may have an important implication for the risk of cranial irradiation in the case of widespread involvement of leukemic cells. Re-evaluation of cranial irradiation in such cases is suggested. (Namekawa, K.)

  15. Equipment abnormality monitoring device

    International Nuclear Information System (INIS)

    Ando, Yasumasa

    1991-01-01

    When an operator hears sounds in a plantsite, the operator compares normal sounds of equipment which he previously heard and remembered with sounds he actually hears, to judge if they are normal or abnormal. According to the method, there is a worry that abnormal conditions can not be appropriately judged in a case where the number of objective equipments is increased and in a case that the sounds are changed gradually slightly. Then, the device of the present invention comprises a plurality of monitors for monitoring the operation sound of equipments, a recording/reproducing device for recording and reproducing the signals, a selection device for selecting the reproducing signals among the recorded signals, an acoustic device for converting the signals to sounds, a switching device for switching the signals to be transmitted to the acoustic device between to signals of the monitor and the recording/reproducing signals. The abnormality of the equipments can be determined easily by comparing the sounds representing the operation conditions of equipments for controlling the plant operation and the sounds recorded in their normal conditions. (N.H.)

  16. Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X

    Directory of Open Access Journals (Sweden)

    Kartapradja Hannie

    2011-10-01

    Full Text Available Abstract Background Monosomy × or 45,X is a cytogenetic characteristic for Turner syndrome. This chromosome anomaly is encountered in around 50% of cases, but wide variations of other anomalies have been found. This report is to describe the cytogenetic characteristics of 45,X individuals. To the best of our knowledge, there were no large series of 45,X cases has been reported from Indonesia. Results Ninety five cases with 45,X cell line found, of which 60 were detected by karyotyping, 4 by FISH for sex chromosomes, and 31 by both karyotyping and FISH. Using karyotyping 37 out of 91 cases(40.6% were identified as 45,X individuals, while cases who underwent FISH only 4 out of 35 cases (11.4% showed 45,X result, resulting in total of 39 45,X cases (41.1%, and the rest 56 (58.9% cases are mosaic. Among these cases, 21 out of 95 (22.1% have Y or part of Y as the second or third sex chromosome in their additional cell lines. Result discrepancies revealed in 22 out of 31 cases who underwent both FISH and karyotyping, of which 7 showed normal 46,XX or 46,XY karyotypes, but by FISH, additional monosomy × cell line was found. Most of the cases were referred at the age of puberty (8-13 years old or after that (14-18 years old, 31 and 21 cases respectively, and there were 14 cases were sent in adulthood. Conclusion Wide variations of sex chromosome aberrations have been detected using the combination of conventional cytogenetic and FISH, including detection of low level of mosaicism and Y-chromosome fragments. Result discrepancies using both techniques were found in 22/31 cases, and in order to obtain a more details of sex chromosome constitution of individuals with 45,X cell line both FISH and karyotyping should be carried out simultaneously.

  17. Urinary tract infection with Pasteurella multocida in a patient with cat exposure and abnormal urinary tract physiology: Case report and literature review

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    Joel T. Costanzo, II

    2017-01-01

    Full Text Available Pasteurella multocida is a gram-negative organism that commonly colonizes the mouth of cats and dogs, and is known to cause infection in humans associated with animal bites or scratches. Sites of infection other than skin and soft tissue are rare, but have been reported in patients with specific risk factors including anatomical abnormalities or immunosuppression. Herein, we report a case of a symptomatic urinary tract infection caused by P. multocida in a 59 year old female who presented to the hospital with complaints of systemic symptoms including malaise, rigors, and chills, as well as thick, malodorous urine. The patient self-catheterized multiple times daily due to urostomy with Kock pouch. Treatment with piperacillin/tazobactam followed by amoxicillin resulted in resolution of the infection.

  18. Placental Histomorphology in a Case of Double Trisomy 48,XXX,+18

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    Sujal I. Shah

    2018-01-01

    Full Text Available Background. Approximately 50% of early spontaneous abortions are found to have chromosomal abnormalities. In these cases, certain histopathologic abnormalities are suggestive of, although not diagnostic for, the presence of chromosomal abnormalities. However, placental histomorphology in cases of complex chromosomal abnormalities, including double trisomies, is virtually unknown. Case Report. We present the case of a 27-year-old G3P22002 female presenting at 19 weeks and 1 day of gestation by last menstrual period for scheduled prenatal visit. Ultrasound revealed a single fetus without heart tones and adequate amniotic fluid. Limited fetal measurements were consistent with estimated gestational age of 17 weeks. Labor was induced with misoprostol due to fetal demise. Autopsy revealed an immature female fetus with grade 1-2 maceration. The ears were low-set and posteriorly rotated. The fingers were short bilaterally, and the right foot showed absence of the second and third digits. Evaluation of the organs showed predominantly marked autolysis consistent with retained stillbirth. Placental examination revealed multiple findings, including focal pseudovillous papilliform trophoblastic proliferation of the undersurface of the chorionic plate and clustering of perpendicularly oriented sclerotic chorionic villi in the chorion laeve, which have not been previously reported in cases of chromosomal abnormalities. Karyotype of placental tissue revealed a 48,XXX,+18 karyotype and the same double trisomy of fetal thymic tissue by FISH. Conclusion. In addition to convoluted outlines of chorionic villi, villous trophoblastic pseudoinclusions, and clusters of villous cytotrophoblasts, the previously unreported focal pseudovillous papilliform trophoblastic proliferation of the undersurface of the chorionic plate and clustering of perpendicularly oriented sclerotic chorionic villi in the chorion laeve were observed in this double trisomy case. More cases have to

  19. [Analysis on laboratory and clinical characteristics in 65 cases of myelodysplastic syndrome].

    Science.gov (United States)

    Chen, Bao-An; Gao, Chong; Ding, Jie; Ding, Jia-Hua; Sun, Yun-Yu; Zhao, Gang; Cheng, Jian; Wang, Jun; Bao, Wen; Song, Hui-Hui; Xia, Guo-Hua; Ma, Jin-Long; Wu, Lan-Lan

    2009-12-01

    The aim of this study was to gain more insight into the understanding of myelodysplastic syndrome in the clinical and laboratory features. The clinical data of 65 patients with MDS were reviewed and analysed. According to FAB criteria, 65 patients were classified as follows: 27 patients with RA, 1 patient with RAS, 33 patients with RAEB, 3 patients with RAEB-T, and 1 patient with CMML. The median age of them was 66 years old (range 19-89 years), and 6 patients had a history of toxic exposure (secondary MDS). The bone marrow smears, bone marrow biopsy and cytogenetic examinations were performed in this study. The results showed that dysplasia was found in 64 patients examined with bone marrow smears (98.5%), among them trilineage dysplasia in 21 patients (32.3%), bilineage dysplasia in 33 patients (50.8%), only erythroid dysplasia in 8 cases (12.3%) and 2 patients (3.1%) only with myeloid dysplasia. The bone marrow biopsy was performed in 38 patients, abnormal localization of immature precursor (ALIP) occurred in 6 cases. 29 patients had abnormal karyotypes, accounting for 59.2% of the 49 patients subjected cytogenetic examination. The abnormal chromosome was the major cytogenetic abnormality, which occurred more often in secondary MDS and the patients with RAEB or RAEB-T. Among the 49 patients who had received cytogenetic examination, 15 patients transformed into AML with the incidence of 30.61%, but only 3 out of 20 patients in the group of normal chromosome transformed into AML (15%), while 12 out of 29 patients in the group of abnormal karyotypes transformed into AML (41.4%). The median time of following up was 35 months (range 2 - 106 months). The median survival time was 26.8 months and 8 months in the patients with normal karyotype and chromosome aberrations respectively. In conclusion, the incidence of MDS in our country is younger than that in Western countries, the rate of abnormal chromosome in high risk MDS is higher than that in low risk MDS. Meanwhile

  20. Clinical array-based karyotyping of breast cancer with equivocal HER2 status resolves gene copy number and reveals chromosome 17 complexity

    Directory of Open Access Journals (Sweden)

    Zadeh Soheila

    2010-07-01

    Full Text Available Abstract Background HER2 gene copy status, and concomitant administration of trastuzumab (Herceptin, remains one of the best examples of targeted cancer therapy based on understanding the genomic etiology of disease. However, newly diagnosed breast cancer cases with equivocal HER2 results present a challenge for the oncologist who must make treatment decisions despite the patient's unresolved HER2 status. In some cases both immunohistochemistry (IHC and fluorescence in situ hybridization (FISH are reported as equivocal, whereas in other cases IHC results and FISH are discordant for positive versus negative results. The recent validation of array-based, molecular karyotyping for clinical oncology testing provides an alternative method for determination of HER2 gene copy number status in cases remaining unresolved by traditional methods. Methods In the current study, DNA extracted from 20 formalin fixed paraffin embedded (FFPE tissue samples from newly diagnosed cases of invasive ductal carcinoma referred to our laboratory with unresolved HER2 status, were analyzed using a clinically validated genomic array containing 127 probes covering the HER2 amplicon, the pericentromeric regions, and both chromosome 17 arms. Results Array-based comparative genomic hybridization (array CGH analysis of chromosome 17 resolved HER2 gene status in [20/20] (100% of cases and revealed additional chromosome 17 copy number changes in [18/20] (90% of cases. Array CGH analysis also revealed two false positives and one false negative by FISH due to "ratio skewing" caused by chromosomal gains and losses in the centromeric region. All cases with complex rearrangements of chromosome 17 showed genome-wide chromosomal instability. Conclusions These results illustrate the analytical power of array-based genomic analysis as a clinical laboratory technique for resolution of HER2 status in breast cancer cases with equivocal results. The frequency of complex chromosome 17

  1. Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype.

    Science.gov (United States)

    Vergara-Mendez, Laura Daniela; Talero-Gutiérrez, Claudia; Velez-Van-Meerbeke, Alberto

    2018-03-01

    We describe a case of a six-year-old girl who presents multiple dysmorphic features characteristic of Down's syndrome. She has a significant general developmental delay, with a score that correspond to 32 months of developmental age. This delay is especially in language, with a very scant vocabulary. She communicates with some hand sign words or pointing, although her auditory responses in hearing test were normal. Two previous karyotype studies showed 47, XXX, +21 anomalies. This double trisomy is a rare condition described in isolated cases in the literature and none of these refers to the developmental aspects of these children (Balwan et al. 2008; Li et al. 2004; Park et al. 1995; Day et al. 1963).

  2. The Karyotype of Alstroemeria diluta Ehr. Bayer subsp. chrysantha (Alstroemeriaceae Karyotype of Alstroemeria diluta Ehr. Bayer subsp. chrysantha (Alstroemeriaceae

    Directory of Open Access Journals (Sweden)

    Carlos M Baeza

    2010-12-01

    Full Text Available The karyotype of Alstroemeria diluta subsp. chrysantha Ehr. Bayer from Chile was examined. The species has 2n = 2x = 16 chromosomes, with 4m + 4sm + 2st-sat + 4t + 2t-sat. The reported karyotype is very asymmetrical (AsK % = 71.4 and Syi = 40.0%. This karyotype is similar to that published previously for Alstroemeria graminea Phil.Alstroemeria diluta subsp. chrysantha Ehr. Bayer (Alstroemeriaceae fue examinada citológicamente. Esta especie presenta un número cromosómico somático de 2n = 2x = 16 cromosomas, con una fórmula haploide constituida por 4m + 4sm + 2st-sat + 4t + 2t-sat cromosomas. El cariotipo es muy asimétrico, con valores de AsK % = 71,4 y Syi = 40,0%. Estos resultados se compararon con los de Alstroemeria graminea Phil., especie que presenta un cariotipo muy similar.

  3. Concurrent insulinoma with mosaic Turner syndrome: A case report.

    Science.gov (United States)

    Wang, Shaoyun; Yang, Lijuan; Li, Jie; Mu, Yiming

    2015-03-01

    Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified.

  4. Diagnosis of abnormal patterns in multivariate microclimate monitoring: a case study of an open-air archaeological site in Pompeii (Italy).

    Science.gov (United States)

    Merello, Paloma; García-Diego, Fernando-Juan; Zarzo, Manuel

    2014-08-01

    Chemometrics has been applied successfully since the 1990s for the multivariate statistical control of industrial processes. A new area of interest for these tools is the microclimatic monitoring of cultural heritage. Sensors record climatic parameters over time and statistical data analysis is performed to obtain valuable information for preventive conservation. A case study of an open-air archaeological site is presented here. A set of 26 temperature and relative humidity data-loggers was installed in four rooms of Ariadne's house (Pompeii). If climatic values are recorded versus time at different positions, the resulting data structure is equivalent to records of physical parameters registered at several points of a continuous chemical process. However, there is an important difference in this case: continuous processes are controlled to reach a steady state, whilst open-air sites undergo tremendous fluctuations. Although data from continuous processes are usually column-centred prior to applying principal components analysis, it turned out that another pre-treatment (row-centred data) was more convenient for the interpretation of components and to identify abnormal patterns. The detection of typical trajectories was more straightforward by dividing the whole monitored period into several sub-periods, because the marked climatic fluctuations throughout the year affect the correlation structures. The proposed statistical methodology is of interest for the microclimatic monitoring of cultural heritage, particularly in the case of open-air or semi-confined archaeological sites. Copyright © 2014 Elsevier B.V. All rights reserved.

  5. [Inter-observer variability of decision concerning the route of delivery in case of one previous cesarean section and abnormal pelvic measures].

    Science.gov (United States)

    Bourdon, M; Ceccaldi, P F; Girard, G; Koskas, M; Goffinet, F; Le Ray, C

    2016-11-01

    To study inter-observer variability of decision concerning the route of delivery using pelvimetry in case of one previous cesarean section and abnormal pelvic measures. Observational study conducted in 2014 in 4 university maternity units among 36 obstetricians. Two groups of obstetricians - as they practiced in a center where pelvimetry was routinely performed (n=12) or not (n=24) - had to choose a route of delivery for 10 clinical cases of women with a single uterine scar and a tight pelvis. The "routine pelvimetry" group had pelvimetry results. The group "no pelvimetry" became aware of pelvimetry results as a second step and had to indicate whether this information changed or not their management. The measurement of the inter-observer variability was estimated by estimating the proportion of agreement according to Grant method. The proportion of agreements of an attempted vaginal delivery between obstetricians in the group "routine pelvimetry" was 64.7% (95% CI [61-68.5]) and 97.3% (95% CI [96.4 to 98.3]) in the group "no pelvimetry", prior knowledge of pelvimetry results. An attempted vaginal delivery was decided in 77.5% versus 98.7% (Pcesarean section, in case of tight pelvis discovered after pelvimetry, inter-observer variability of decision concerning the route of delivery is increased. Centers that choose to continue using the routine pelvimetry should develop procedures to limit this variability. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  6. MR imaging of abnormal synovial processes

    International Nuclear Information System (INIS)

    Quinn, S.F.; Sanchez, R.; Murray, W.T.; Silbiger, M.L.; Ogden, J.; Cochran, C.

    1987-01-01

    MR imaging can directly image abnormal synovium. The authors reviewed over 50 cases with abnormal synovial processes. The abnormalities include Baker cysts, semimembranous bursitis, chronic shoulder bursitis, peroneal tendon ganglion cyst, periarticular abscesses, thickened synovium from rheumatoid and septic arthritis, and synovial hypertrophy secondary to Legg-Calve-Perthes disease. MR imaging has proved invaluable in identifying abnormal synovium, defining the extent and, to a limited degree, characterizing its makeup

  7. Evaluation of Chromosomal Abnormalities and Common ...

    African Journals Online (AJOL)

    Evaluation of Chromosomal Abnormalities and Common Trombophilic Mutations in Cases with Recurrent Miscarriage. Ahmet Karatas, Recep Eroz, Mustafa Albayrak, Tulay Ozlu, Bulent Cakmak, Fatih Keskin ...

  8. Abnormal Head Position

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Abnormal Head Position En Español Read in Chinese What is an abnormal head posture? An abnormal or compensatory head posture occurs ...

  9. Karyotype Rearrangements in a Wine Yeast Strain by rad52-Dependent and rad52-Independent Mechanisms

    OpenAIRE

    Carro, David; Bartra, Enric; Piña, Benjamin

    2003-01-01

    Yeast strains isolated from the wild may undergo karyotype changes during vegetative growth, a characteristic that compromises their utility in genetic improvement projects for industrial purposes. Karyotype instability is a dominant trait, segregating among meiotic derivatives as if it depended upon only a few genetic elements. We show that disrupting the RAD52 gene in a hypervariable strain partially stabilizes its karyotype. Specifically, RAD52 disruption eliminated recombination at telome...

  10. Standard karyotype and nucleolus organizer region of Neotropical blindsnake Typhlops brongersmianus (Serpentes: Typhlopidae

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    José Augusto Ruiz García

    2007-11-01

    Full Text Available The karyotype of Typhlops brongersmianus is reported on the basis of specimens from north-eastern Argentina. The conventional Giemsa staining showed that the species has 2n = 34 chromosomes, including 8 pairs of macrochromosomes and 9 pairs of microchromosomes. Ag-NOR staining revealed the NORs location on a pair of macrochromosomes. The chromosome number and karyotypic morphology are similar to those of Neotropical typhlopid previously karyotyped.

  11. Chronic lymphocytic leukemia-associated chromosomal abnormalities and miRNA deregulation

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    Kiefer Y

    2012-03-01

    Full Text Available Yvonne Kiefer1, Christoph Schulte2, Markus Tiemann2, Joern Bullerdiek11Center for Human Genetics, University of Bremen, Bremen, Germany; 2Hematopathology Hamburg, Hamburg, GermanyAbstract: Chronic lymphocytic leukemia is the most common leukemia in adults. By cytogenetic investigations major subgroups of the disease can be identified that reflect different routes of tumor development. Of these chromosomal deviations, trisomy 12 and deletions of parts of either the long arm of chromosome 13, the long arm of chromosome 11, or the short arm of chromosome 17 are most commonly detected. In some of these aberrations the molecular target has been identified as eg, ataxia telangiectasia mutated (ATM in case of deletions of chromosomal region 11q22~23 and the genes encoding microRNAs miR-15a/16-1 as likely targets of deletions of chromosomal band 13q14.3. Of note, these aberrations do not characterize independent subgroups but often coexist within the metaphases of one tumor. Generally, complex aberrations are associated with a worse prognosis than simple karyotypic alterations. Due to smaller sizes of the missing segment the detection of recurrent deletions is not always possible by means of classical cytogenetics but requires more advanced techniques as in particular fluorescence in situ hybridization (FISH. Nevertheless, at this time it is not recommended to replace classical cytogenetics by FISH because this would miss additional information given by complex or secondary karyotypic alterations. However, the results of cytogenetic analyses allow the stratification of prognostic and predictive groups of the disease. Of these, the group characterized by deletions involving TP53 is clinically most relevant. In the future refined methods as eg, array-based comparative genomic hybridization will supplement the existing techniques to characterize CLL. Keywords: chronic lymphocytic leukemia, chromosomal abnormality, miRNA deregulation

  12. Chromosomal evolution in tortricid moths: conserved karyotypes with diverged features.

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    Jindra Síchová

    Full Text Available Moths of the family Tortricidae constitute one of the major microlepidopteran groups in terms of species richness and economic importance. Yet, despite their overall significance, our knowledge of their genome organization is very limited. In order to understand karyotype evolution in the family Tortricidae, we performed detailed cytogenetic analysis of Grapholita molesta, G. funebrana, Lobesia botrana, and Eupoecilia ambiguella, representatives of two main tortricid subfamilies, Olethreutinae and Tortricinae. Besides standard cytogenetic methods, we used fluorescence in situ hybridization for mapping of major rRNA and histone gene clusters and comparative genomic hybridization to determine the level of molecular differentiation of the W and Z sex chromosomes. Our results in combination with available data in the codling moth, Cydia pomonella, and other tortricids allow us a comprehensive reconstruction of chromosomal evolution across the family Tortricidae. The emerging picture is that the karyotype of a common ancestor of Tortricinae and Olethreutinae differentiated from the ancestral lepidopteran chromosome print of n = 31 by a sex chromosome-autosome fusion. This rearrangement resulted in a large neo-sex chromosome pair and a karyotype with n = 30 conserved in most Tortricinae species, which was further reduced to n = 28 observed in Olethreutinae. Comparison of the tortricid neo-W chromosomes showed differences in their structure and composition presumably reflecting stochasticity of molecular degeneration of the autosomal part of the neo-W chromosome. Our analysis also revealed conservative pattern of the histone distribution, which is in contrast with high rDNA mobility. Despite the dynamic evolution of rDNA, we can infer a single NOR-chromosome pair as an ancestral state not only in tortricids but probably in all Lepidoptera. The results greatly expand our knowledge of the genome architecture in tortricids, but also contribute

  13. Recurrent Cytogenetic Abnormalities in Acute Myeloid Leukemia.

    Science.gov (United States)

    Yang, John J; Park, Tae Sung; Wan, Thomas S K

    2017-01-01

    The spectrum of chromosomal abnormality associated with leukemogenesis of acute myeloid leukemia (AML) is broad and heterogeneous when compared to chronic myeloid leukemia and other myeloid neoplasms. Recurrent chromosomal translocations such as t(8;21), t(15;17), and inv(16) are frequently detected, but hundreds of other uncommon chromosomal aberrations from AML also exist. This chapter discusses 22 chromosomal abnormalities that are common structural, numerical aberrations, and other important but infrequent (less than 1 %) translocations emphasized in the WHO classification. Brief morphologic, cytogenetic, and clinical characteristics are summarized, so as to provide a concise reference to cancer cytogenetic laboratories. Morphology based on FAB classification is used together with the current WHO classification due to frequent mentioning in a vast number of reference literatures. Characteristic chromosomal aberrations of other myeloid neoplasms such as myelodysplastic syndrome and myeloproliferative neoplasm will be discussed in separate chapters-except for certain abnormalities such as t(9;22) in de novo AML. Gene mutations detected in normal karyotype AML by cutting edge next generation sequencing technology are also briefly mentioned.

  14. Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7

    Directory of Open Access Journals (Sweden)

    Fang Jye-Siung

    2011-02-01

    Full Text Available Abstract Aim Clinical and molecular cytogenetic investigations of a newborn girl exhibiting facial dysmorphism with developmental delay. Methods Phenotypic evaluation was first applied to examine the proband's developmental status. Computed tomography and colour transcranial Doppler were used then to investigate her brain structure and function. Subsequently, chromosomal abnormalities were examined by karyotyping and fluorescent in situ hybridization was performed to investigate size of fragments lost at the two distal ends of the ring chromosome 7. In addition, multicolour banding was applied to rule out structural rearrangement occurs in between the ring chromosome 7. Results The proband was born with mosaic supernumerary ring chromosome 7, without a normal karyotype detected in the peripheral blood lymphocytes. The distal arm of chromosome 7p (at least 255 kb from the telomere was part of an extra ring chromosome 7. In addition, the distal arm of 7q, at least 8 kb from the telomere, was missing. There was no other chromosomal rearrangement detected by multicolour banding. Interpretation This is the 19th reported case of complete ring chromosome 7 mosaicism and the first survived case with mosaic supernumerary ring 7 without a normal karyotype detected in the peripheral lymphocytes.

  15. Genetic counseling for a prenatal diagnosis of structural chromosomal abnormality with high-resolution analysis using a single nucleotide polymorphism microarray

    Directory of Open Access Journals (Sweden)

    Akiko Takashima

    2016-08-01

    Full Text Available A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46,XY,add(9(p24. Chromosomal microarray analysis (CMA is utilized in prenatal diagnoses. A single nucleotide polymorphism microarray revealed a male fetus with balanced chromosomal translocations on 9p and balanced chromosomal rearrangements, but another chromosomal abnormality was detected. The fetus had microduplication. The child was born as a phenotypically normal male. CMA is a simple and informative procedure for prenatal genetic diagnosis. CMA is the detection of chromosomal variants of unknown clinical significance; therefore, genetic counseling is important during prenatal genetic testing.

  16. Rare cytogenetic abnormalities and alteration of microRNAs in acute myeloid leukemia and response to therapy

    OpenAIRE

    Mohammad Shahjahani; Elham Khodadi; Mohammad Seghatoleslami; Javad Mohammadi Asl; Neda Golchin; Zeynab Deris Zaieri; Najmaldin Saki

    2015-01-01

    Acute myeloid leukemia (AML) is the most common acute leukemia in adults, which is heterogeneous in terms of morphological, cytogenetic and clinical features. Cytogenetic abnormalities, including karyotype aberrations, gene mutations and gene expression abnormalities are the most important diagnostic tools in diagnosis, classification and prognosis in acute myeloid leukemias. Based on World Health Organization (WHO) classification, acute myeloid leukemias can be divided to four groups. Due to...

  17. Multicolor-FISH applied to resolve complex chromosomal changes in a case of T-ALL (FAB L2)

    NARCIS (Netherlands)

    Mkrtchyan, H.; Glaser, M.; Gross, M.; Wedding, U.; Hoeffken, K.; Liehr, T.; Aroutiounian, R.

    2006-01-01

    We report on a patient with a clinically diagnosed acute lymphoblastic leukemia (ALL) with partial unrecorded complex translocation events especially involving chromosomes 5,9 and 18. At the GTG-band level the karyotype was abnormal in 20% of the analyzed cells. The complex karyotype was studied in

  18. The comorbidity of bipolar disorder, diabetes mellitus, and autoimmune hypothyroidism in an adult woman with Turner’s syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Li J

    2017-09-01

    Full Text Available Jinling Li, Xiaohong Hong, Haiyun Xu The Mental Health Center, Shantou University Medical College, Shantou, Guangdong, People’s Republic of China Abstract: Turner’s syndrome (TS is the most common sex chromosome abnormality in females and characterized with short stature and ovarian dysgenesis. Patients with TS may also present many other physical diseases and mental disorders. In this case report, we present a 49-year-old woman with TS, who also met criteria for bipolar disorder, type 2 diabetes mellitus, and autoimmune hypothyroidism. The patient was admitted to the mental health center for depressive symptoms in 1991 and was misdiagnosed as hypopituitarism, which was not corrected until 2005 when her karyotype of 45, X/46, X, i(Xq was identified. Due to the misdiagnosis and other specific reasons, the patient missed the optimal time for hormone replacement therapy. Keywords: Turner’s syndrome, bipolar disorder, karyotype, comorbidity

  19. Prognostic significance of cytogenetic abnormalities in T-cell prolymphocytic leukemia.

    Science.gov (United States)

    Hu, Zhihong; Medeiros, L Jeffrey; Fang, Lianghua; Sun, Yi; Tang, Zhenya; Tang, Guilin; Sun, Tsieh; Quesada, Andres E; Hu, Shimin; Wang, Sa A; Pei, Lin; Lu, Xinyan

    2017-05-01

    T-cell prolymphocytic leukemia (T-PLL) is an aggressive mature T-cell neoplasm. The most common cytogenetic abnormality associated with T-PLL is inv(14)(q11.2q32) involving TCL1, but other abnormalities also have been reported. In this study, we correlated cytogenetic abnormalities with clinical outcome in 97 T-PLL patients, including 66 men and 31 women with a median age of 63 years (range, 34-81). Twenty-seven patients had a normal karyotype (NK), one had two chromosomal aberrations, and 69 had a complex karyotype (CK). Patients with a CK had poorer overall survival (OS) than patients with a NK (P = .0016). In the CK group, the most common aberrations involved 14q (n = 45) and 8q (n = 38). Additional deletions of chromosomes 17p, 11q, 6q, 12p, 13q were observed frequently. No individual cytogenetic abnormality impacted OS. Patients with ≥5 aberrations had an OS of 11 months versus 22 months in patients with 3467). Patients with refractory disease showed worse OS in both the NK and CK groups (P = .0014 and P < .0001, respectively), compared with patients who achieved remission but then relapsed. Stem cell transplantation did not appear to improve OS regardless of karyotype complexity. In conclusion, patients with T-PLL often have a CK which is a poor prognostic factor, particularly in patients with ≥5 cytogenetic aberrations. © 2017 Wiley Periodicals, Inc.

  20. Arsenic trioxide in front-line therapy of acute promyelocytic leukemia (C9710): prognostic significance of FLT3 mutations and complex karyotype.

    Science.gov (United States)

    Poiré, Xavier; Moser, Barry K; Gallagher, Robert E; Laumann, Kristina; Bloomfield, Clara D; Powell, Bayard L; Koval, Gregory; Gulati, Kabir; Holowka, Nicholas; Larson, Richard A; Tallman, Martin S; Appelbaum, Frederick R; Sher, Dorie; Willman, Cheryl; Paietta, Elisabeth; Stock, Wendy

    2014-07-01

    The addition of arsenic trioxide (ATO) to frontline therapy of acute promyelocytic leukemia (APL) has been shown to result in significant improvements in disease-free survival (DFS). FLT3 mutations are frequently observed in APL, but its prognostic significance remains unclear. We analyzed 245 newly diagnosed adult patients with APL treated on intergroup trial C9710 and evaluated previously defined biological and prognostic factors and their relationship to FLT3 mutations and to additional karyotypic abnormalities. FLT3 mutations were found in 48% of patients, including 31% with an internal tandem duplication (FLT3-ITD), 14% with a point mutation (FLT3-D835) and 2% with both mutations. The FLT3-ITD mutant level was uniformly low, karyotype was strongly associated with an inferior OS independently of post-remission treatment. In conclusion, the addition of ATO to frontline therapy overcomes the impact of previously described adverse prognostic factors including FLT3 mutations. However, complex karyotype is strongly associated with an inferior OS despite ATO therapy.

  1. Corpus callosum abnormalities: neuroradiological and clinical correlations.

    Science.gov (United States)

    Al-Hashim, Aqeela H; Blaser, Susan; Raybaud, Charles; MacGregor, Daune

    2016-05-01

    To study neuroradiological features in pediatric patients with corpus callosum abnormalities, using new functional subtyping for the corpus callosum, and to correlate the features with the clinical presentation. We performed a retrospective review of 125 patients with radiologically identified abnormalities of the corpus callosum seen between 1999 and 2012. The study reviewed clinical features, genetic etiology, and chromosomal microarray (CMA) results. We used a new functional classification for callosal abnormalities based on embryological and anatomical correlations with four classes: complete agenesis, anterior agenesis (rostrum, genu, body), posterior agenesis (isthmus, splenium), and complete hypoplasia (thinning). We also studied the presence of extracallosal abnormalities. The new functional callosal subtyping did not reveal significant differences between the various subtypes in association with neurological outcome; however, the presence of cardiac disease was found more frequently in the group with complete agenesis. Thirty-seven per cent (46/125) had identifiable causes: of these, 48% (22/46) had a monogenic disorder, 30% (14/46) had a pathogenic chromosomal copy-number variant detected by CMA or karyotype, and 22% (10/46) had a recognizable clinical syndrome for which no confirmatory genetic test was available (namely Aicardi syndrome/septo-optic dysplasia and Goldenhar syndrome). The diagnostic yield for a significant CMA change was 19%. The presence of Probst bundles was found to be associated with a better neurodevelopmental outcome. The functional classification system alone 'without clinical data' cannot predict the functional outcome. The presence of extracallosal brain abnormalities and an underlying genetic diagnosis predicted a worse neurodevelopmental outcome. This study highlights the importance of CMA testing and cardiac evaluation as part of a routine screen. © 2015 Mac Keith Press.

  2. Monosomal karyotype is not a predictor of dismal outcome in childhood de novo acute myeloid leukemia.

    Science.gov (United States)

    Lee, Na Hee; Choi, Young Bae; Yi, Eun-Sang; Lee, Soo Hyun; Kim, Hee-Jin; Lee, Ji Won; Sung, Ki Woong; Koo, Hong Hoe; Yoo, Keon Hee

    2016-11-01

    Monosomal karyotype (MK) is known as a far end of the unfavorable cytogenetics in adult acute myeloid leukemia (AML), while available data in childhood AML is scarce. In this study, we investigated the prevalence and prognostic value of MK with retrospectively analyzed 119 patients newly diagnosed with childhood de novo AML. Ten patients (8.4%) revealed to have MK. All MK-positive (MK(+)) AML were associated with complex cytogenetic abnormalities and belonged to the cytogenetic adverse-risk group. Nine of MK(+) patients (90%) achieved complete remission. The event-free survival (EFS) and overall survival (OS) of MK(+) adverse group were comparable to the ESF and OS of MK-negative non-adverse group (EFS 60.0±15.5% vs 59.0±5.1%, P=0.925; OS 70.0±14.5% vs 58.1±5.3%, P=0.696). In multivariate analysis, MK was not an independent adverse prognostic factor for EFS (hazard ratio 0.45, 95% C.I. 0.13-1.50, P=0.194). In addition, 7 of 9 MK(+) patients who received allogeneic hematopoietic stem cell transplantation (HSCT) survived event-free, with a median follow-up of 64 months. In conclusion, MK did not act as an adverse prognostic factor in childhood de novo AML. Allogeneic HSCT might have contributed to the excellent outcome of MK(+) childhood de novo AML. Copyright © 2016 Elsevier Ltd. All rights reserved.

  3. Reduced size of the amygdala in individuals with 47,XXY and 47,XXX karyotypes.

    Science.gov (United States)

    Patwardhan, Anil J; Brown, Wendy E; Bender, Bruce G; Linden, Mary G; Eliez, Stephan; Reiss, Allan L

    2002-01-08

    The excess of 47,XXX and 47,XXY karyotypes found in cytogenetic screening studies of individuals with schizophrenia has given support for an increased risk of psychiatric illness among men and women with sex chromosomal aneuploidy (SCA). Mesial temporal lobe structures, including the amygdala and hippocampus, are thought to be associated with abnormalities of mood and behavior in humans and in the neurobiology of schizophrenia. This study focuses on variations in volumes of mesial temporal lobe structures in men and women with SCA. Utilizing an unselected birth cohort of subjects with SCA and high-resolution magnetic resonance imaging (MRI), we investigated the neuroanatomical consequences of a supernumerary X chromosome on the morphology of the amygdala and hippocampus. Regional and total brain volumes were measured in 10 subjects with 47,XXY, 10 subjects with 47,XXX, and 20 euploid controls. Amygdala volumes were significantly reduced in men with 47,XXY, compared to control men, while the decrease in women with 47,XXX was not as pronounced. Hippocampus volumes were preserved in both groups, compared to same-gender controls. Longitudinal studies of SCA individuals have shown an increased incidence of mild psychopathology and behavioral dysfunction in men with 47,XXY and more overt psychiatric illness in women with 47,XXX, compared to control populations. The alteration in amygdala volumes in individuals with a supernumerary X chromosome may provide a neuroanatomic basis for these findings. Copyright 2001 Wiley-Liss, Inc.

  4. New insights into the karyotype evolution of the free-living flatworm Macrostomum lignano (Platyhelminthes, Turbellaria).

    Science.gov (United States)

    Zadesenets, Kira S; Schärer, Lukas; Rubtsov, Nikolay B

    2017-07-20

    The free-living flatworm Macrostomum lignano is a model organism for evolutionary and developmental biology studies. Recently, an unusual karyotypic diversity was revealed in this species. Specifically, worms are either 'normal' 2n = 8, or they are aneuploid with one or two additional large chromosome(s) (i.e. 2n = 9 or 2n = 10, respectively). Aneuploid worms did not show visible behavioral or morphological abnormalities and were successful in reproduction. In this study, we generated microdissected DNA probes from chromosome 1 (further called MLI1), chromosome 2 (MLI2), and a pair of similar-sized smaller chromosomes (MLI3, MLI4). FISH using these probes revealed that MLI1 consists of contiguous regions homologous to MLI2-MLI4, suggesting that MLI1 arose due to the whole genome duplication and subsequent fusion of one full chromosome set into one large metacentric chromosome. Therefore, one presumably full haploid genome was packed into MLI1, leading to hidden tetraploidy in the M. lignano genome. The study of Macrostomum sp. 8 - a sibling species of M. lignano - revealed that it usually has one additional pair of large chromosomes (2n = 10) showing a high homology to MLI1, thus suggesting hidden hexaploidy in its genome. Possible evolutionary scenarios for the emergence of the M. lignano and Macrostomum sp. 8 genomes are discussed.

  5. An improved method for karyotype analyses of marine algae

    Science.gov (United States)

    Wang, Juan; Dai, Jixun

    2008-05-01

    Modified carbol fuchsin staining method was successfully introduced into the karyotype analyses of marine algae, including Porphyra, Undaria pinnatifida and Laminaria japonica. Haploid chromosomes were numbered clearly in the vegetative, spermatangial and conchosporangial cells of P. haitanensis and P. yezoensis. Diploid chromosomes were observed and numbered in immature conchosporangial cells of P. haitanensis and P. yezoensis. Pit-connections of Porphyra were also clearly demonstrated. Prophase chromosomes of conchocelis cells were also clearly stained with modified carbol fuchsin. One molar per liter hydrochloric hydrolysis at 60°C for 7-8 min is necessary for getting transparent cytoplasm for conchosporangial karyotype analysis of Porphyra. Staining effects of the three methods using iron alum acetocarmine, aceto-iron-haematoxylin-chloral hydrate and modified carbol fuchsin were compared on the vegetative, spermatangial and conchosporangial cells of Porphyra and the gametophytes of U. pinnatifida and L. japonica. Among the three methods, the modified carbol fuchsin method gave the best result of deep staining and good contrast between nucleus and cytoplasm.

  6. COMPARISON OF IMAGE ENHANCEMENT METHODS FOR CHROMOSOME KARYOTYPE IMAGE ENHANCEMENT

    Directory of Open Access Journals (Sweden)

    Dewa Made Sri Arsa

    2017-02-01

    Full Text Available The chromosome is a set of DNA structure that carry information about our life. The information can be obtained through Karyotyping. The process requires a clear image so the chromosome can be evaluate well. Preprocessing have to be done on chromosome images that is image enhancement. The process starts with image background removing. The image will be cleaned background color. The next step is image enhancement. This paper compares several methods for image enhancement. We evaluate some method in image enhancement like Histogram Equalization (HE, Contrast-limiting Adaptive Histogram Equalization (CLAHE, Histogram Equalization with 3D Block Matching (HE+BM3D, and basic image enhancement, unsharp masking. We examine and discuss the best method for enhancing chromosome image. Therefore, to evaluate the methods, the original image was manipulated by the addition of some noise and blur. Peak Signal-to-noise Ratio (PSNR and Structural Similarity Index (SSIM are used to examine method performance. The output of enhancement method will be compared with result of Professional software for karyotyping analysis named Ikaros MetasystemT M . Based on experimental results, HE+BM3D method gets a stable result on both scenario noised and blur image.

  7. Electroclinical findings in four patients with karyotype 47,XYY.

    Science.gov (United States)

    Torniero, Claudia; Bernardina, Bernardo Dalla; Fontana, Elena; Darra, Francesca; Danesino, Cesare; Elia, Maurizio

    2011-05-01

    47,XYY karyotype is a Y chromosome aneuploidy characterized by an extra copy of the Y chromosome in each of the male cells, with an incidence of 1/1000 males. Most studies about 47,XYY have focused on growth, cognitive development, academic performance, behavioural problems, speech and language skills and neuromuscular status. Up-to-date reports on seizures and EEG characteristics concerning 47,XYY men have been sporadic and poorly detailed. The aim of this study is to describe the particular electroclinical patterns in a group of four subjects with 47,XYY karyotype. We performed neurological examinations, psychometric tests, brain MRIs, prolonged EEG recordings during awake and sleep on four unselected males 47,XYY. All four patients presented various degrees of neuropsychological impairment. An incidence of familial antecedents for epilepsy was confirmed by three families. When present, seizures were very similar to that of benign epilepsy with central-temporal spikes, (BECTS), for age of onset, clinical picture, evolution and good response to antiepileptic drugs. EEG recordings in all four subjects showed normal background activity and sleep organization, particular focal spikes and sharp-waves localized mostly over the vertex and/or central-temporal regions, which increased during sleep. In our opinion, these 47,XYY patients present a particular electroclinical pattern. Copyright © 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  8. KARYOTYPE ALTERATIONS AFTER HYBRIDIZATION BETWEEN Pennisetum purpureum AND Pennisetum glaucum

    Directory of Open Access Journals (Sweden)

    Gabriela Barreto dos Reis

    2015-10-01

    Full Text Available ABSTRACTNapier grass and pearl millet are tropical forages from the genus Pennisetum. The variability in those species is explored in breeding programs of forages, as well as in the production of interspecific hybrids. Hybridization is a phenomenon that leads to intergenomic conflicts following the elimination of genomic sequences. In this sense, the present work aimed to study the genomic alterations occurring after interspecific hybridization of pearl millet and Napier grass with the use of cytogenetics and flow cytometry tools. These methods allowed the evaluation of chromosome morphometry, DNA content and genomic ratio in pearl millet, Napier grass and hybrids. It was observed that pearl millet and Napier grass have chromosomes with superposed size. The hybrid presents chromosomes that are smaller than expected, leading to karyotype alterations. Additionally, comparing the DNA content of parents and hybrids, loss of DNA content was demonstrated. Further, changes in the pearl millet and Napier grass genome ratio were also verified in the hybrid nucleus. Moreover, genomic rearrangements were shown to occur through karyotype alterations in the hybrid.

  9. Variation in genome size and karyotype among closely related parasitoids of aphids

    Science.gov (United States)

    Genome sizes and karyotypes can provide crucial insights into important characteristics of genomes, as well as providing data for phylogenetic inferences. We measured genome sizes and determined the karyotypes of nine species of aphid parasitoids in the genus Aphelinus. Genome sizes estimated from...

  10. Plasmodium berghei: in vivo generation and selection of karyotype mutants and non-gametocyte producer mutants

    NARCIS (Netherlands)

    Janse, C. J.; Ramesar, J.; van den Berg, F. M.; Mons, B.

    1992-01-01

    We previously reported that karyotype and gametocyte-producer mutants spontaneously arose during in vivo asexual multiplication of Plasmodium berghei. Here we studied the rate of selection of these mutants in vivo. Gametocyte production and karyotype pattern were established at regular intervals

  11. The karyotype of the critically endangered Lear's macaw, Anodorhynchus leari Bonaparte 1856 (Aves, Psittaciformes)

    OpenAIRE

    Nogueira, Denise Monnerat; Souza, Lucia Moreno de; Goldschmidt, Beatriz; Silva, Christiano Pinheiro da; Monsores, Denise Wilches

    2006-01-01

    We used conventional chromosomal staining to describe the karyotype of the critically endangered Lear's macaw, Anodorhynchus leari Bonaparte 1856. A diploid number of 2n = 70 and a karyotype similar to that of its congener Anodorhynchus hyacinthinus suggests that chromosomal rearrangements were not the main evolutionary mechanism in the genus.

  12. The karyotype of the critically endangered Lear's macaw, Anodorhynchus leari Bonaparte 1856 (Aves, Psittaciformes

    Directory of Open Access Journals (Sweden)

    Denise Monnerat Nogueira

    2006-01-01

    Full Text Available We used conventional chromosomal staining to describe the karyotype of the critically endangered Lear's macaw, Anodorhynchus leari Bonaparte 1856. A diploid number of 2n = 70 and a karyotype similar to that of its congener Anodorhynchus hyacinthinus suggests that chromosomal rearrangements were not the main evolutionary mechanism in the genus.

  13. Genetic analysis of the karyotype instability in natural wine yeast strains.

    Science.gov (United States)

    Carro, D; Piña, B

    2001-12-01

    Yeast strains isolated from the wild may show high rates of changes in their karyotypes during vegetative growth. We analysed over 500 karyotypes from mitotic and meiotic derivatives of strain DC5, which has a chromosome rearrangement rate of 8.2 x 10(-3) changes/generation. About 70% of the meiotic derivatives of DC5 had low rearrangement rates, with an average of 5.8 x 10(-4) changes/generation, suggesting that karyotype instability behaved as a dominant phenotype. Diploid derivatives with low karyotype variability in mitosis also had low rates of chromosomal rearrangement during meiosis, suggesting that the two phenotypes may be linked. DC5 and some of its meiotic derivatives (both with high and low karyotype variability) had chromosome XII hypervariable bands. Their distribution among the meiotic products indicates that they are not indicators for genetic instability. To our knowledge, data in this paper are the first to indicate that karyotypically unstable yeast strains may give stable progeny at high rates. Understanding of the relevant mechanism(s) may allow the design of genetic strategies to stabilize karyotypes from natural and/or industrial wine yeasts with unacceptable karyotype rearrangement rates. Copyright 2001 John Wiley & Sons, Ltd.

  14. Semi-automated detection of aberrant chromosomes in bivariate flow karyotypes

    NARCIS (Netherlands)

    Boschman, G. A.; Manders, E. M.; Rens, W.; Slater, R.; Aten, J. A.

    1992-01-01

    A method is described that is designed to compare, in a standardized procedure, bivariate flow karyotypes of Hoechst 33258 (HO)/Chromomycin A3 (CA) stained human chromosomes from cells with aberrations with a reference flow karyotype of normal chromosomes. In addition to uniform normalization of

  15. Karyotype analysis of three Solanum plants using combined PI-DAPI ...

    African Journals Online (AJOL)

    The chromosomes were distinguished by combined PI-DAPI (CPD) staining and double fluorescence in situ hybridization (FISH) with 45S and 5S rDNA probes and their molecular cytogenetic karyotypes were established. Although, the karyotype of S. surattense Burm. and S. photeinocarpum Nakam was first established, ...

  16. Analysis of abnormal findings observed on brain MRI T2 weighted image in a system for the detection of asymptomatic brain disease in 1,200 cases

    International Nuclear Information System (INIS)

    Horiguchi, Takashi; Yoshida, Kazunari; Sato, Syuzo; Kawase, Takeshi; Toya, Shigeo; Mizukami, Masahiro

    1998-01-01

    In this study we described the significance of asymptomatic cerebral infarction (ACI) and periventricular hyperintensity (PVH) observed on brain MRI in a system for detection of asymptomatic brain disease with 1,200 cases. The risk factors (RF), population in each age bracket of ACI and PVH, among groups with hypertension (HTG) and without RF (no-RFG), were investigated. The RF of ACI were hypertension (HT), diabetes mellitus (DM), and aging. Without DM, those are common RF of PVH. The population of PVH and ACI with PVH increased with aging in no-RFG. On the other hand, only the population of ACI with PVH increased with aging in HTG. The rate of these abnormal findings in HTG was significantly higher than that in no-RFG. In addition, HT accelerated the occurrence of these findings by 10-20 years. When patients were over 60 years old, ACI increased rapidly. Accordingly, we concluded that PVH and ACI had a common background. Long term follow up concerning the incidence of ACI in the group with only PVH was necessary. It was desirable that treatment for RF should be effected before the age of sixty. (author)

  17. Congenital malformations, chromosomal abnormalities and perinatal results in IVF/ICSI newborns resulting from very poor quality embryos: a case-control study.

    Science.gov (United States)

    Mendoza, R; Perez, S; de Los Santos, M J; Larreategui, Z; Ayerdi, F; Expósito, A; Burgos, J; Martínez Indart, L; Pijoan, J I; Matorras, R

    2015-01-01

    To explore whether the transfer of very poor quality (VPQ) embryos is associated with an increase in congenital malformations or perinatal problems. In this retrospective case-control study, 74 children conceived by in vitro fertilization (IVF) and/or intracytoplasmic sperm injection (ICSI) resulting exclusively from the transfer of VPQ embryos were compared with 1,507 children born after the transfer of top morphological quality (TQ) embryos over the same period of time in the same centers. The prevalence of birth defects in children resulting from VPQ embryos was 1.35% (1/74), similar to the 1.72% (26/1,507) when only TQ embryos were transferred; the rate of chromosomal abnormalities detected was also similar (0.0 vs. 0.4%), as was perinatal mortality. After correcting for multiplicity (higher in the TQ group), the aforementioned parameters remained similar in the two groups. Congenital malformations and perinatal complications do not seem to be more common in children born after transfer of VPQ embryos in IVF/ICSI cycles. Given our preliminary data, which need to be confirmed in much larger studies, when only VPQ embryos are available for transfer in IVF/ICSI cycles, we do not believe that they should be discarded with the intention of avoiding birth defects or perinatal complications. © 2015 S. Karger AG, Basel.

  18. Treatment of Abnormal Vaginal Microbiota before Frozen Embryo Transfer: Case-Report and Minireview to Discuss the Longitudinal Treatment Efficacy of Oral Clindamycin

    Directory of Open Access Journals (Sweden)

    Thor Haahr

    2017-06-01

    Full Text Available Abnormal vaginal microbiota (AVM or bacterial vaginosis (BV might negatively impact reproductive outcomes of in vitro fertilization (IVF. However, before randomized controlled trials are initiated to investigate cause and effect, it is necessary to establish the optimal treatment for AVM. Metronidazole seems ineffective to treat the biofilm in AVM; thus, clindamycin could be suggested as a relevant antibiotic agent for future intervention based studies. In the present case report, we present the first longitudinal follow-up of the vaginal microbiota with molecular methods during and after oral clindamycin treatment. Furthermore, we review the recent literature with the aim to discuss the optimal AVM treatment in a fertility setting. The patient was 40 years old suffering from unexplained secondary infertility. Prior to the present transfer cycle, she had had two failed IVF cycles. The tentative explanation of failed treatment was age-related aneuploidy. However, the patient asked for AVM diagnosis and she was subsequently diagnosed and treated successfully. Unfortunately, the patient did not achieve pregnancy after clindamycin treatment and two subsequent frozen embryo transfer cycles. Taken together, we report an excellent AVM treatment efficacy both short-term and long-term following oral clindamycin treatment. We discuss the potential impact on the vaginal microbiota of co-treatment with estrogen patches in the stimulated frozen embryo transfer cycle. Furthermore, we discuss future aspects of AVM treatment such as the potential impact of estrogen and live biotherapeutic products to positively modulate the microbiota of the reproductive tract.

  19. Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Meck Jeanne M

    2006-01-01

    Full Text Available Abstract Background Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments. Case Presentation A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, multiple midline abnormalities (agenesis of the corpus callosum, imperforate anus, bilateral optic nerve hypoplasia, developmental delay, hypopigmented macules, short 5th fingers, and sleep apnea due to enlarged tonsils. Cytogenetic and fluorescence in situ hybridization analyses revealed an unbalanced translocation involving the segment distal to 16p13 replacing the segment distal to 13q33 [46, XY, der(13t(13;16(q33;p13.3]. Specific BAC-probes were used to confirm the extent of the 13q deletion. Conclusion This unique unbalanced chromosomal translocation may provide insights into genes important in midline development and underscores the previously-reported phenotype of Factor VII deficiency in 13q deletions.

  20. Normal karyotype mosaicism in adult AML patients with adverse-risk and undefined karyotype: preliminary report of treatment outcomes after hematopoietic stem cell transplantation.

    Science.gov (United States)

    Yoon, Jae-Ho; Kim, Hee-Je; Shin, Seung-Hwan; Yahng, Seung-Ah; Cho, Byung-Sik; Eom, Ki-Seong; Kim, Yoo-Jin; Lee, Seok; Min, Chang-Ki; Cho, Seok-Goo; Kim, Dong-Wook; Lee, Jong-Wook; Min, Woo-Sung; Park, Chong-Won

    2013-06-01

    Karyotype analysis in acute myeloid leukemia (AML) is one of the powerful prognostic factors for complete remission (CR), relapse, and overall survival (OS). Cytogenetic mosaicism is considered to be one of the important characteristics in expression of phenotypic manifestations. However, it has not come into focus due to emerging molecular biological approaches and the results of a number of mutation studies. Clinical correlates and prognostic relevance of mosaicism were evaluated in 163 AML patients [adverse-risk karyotypes (n = 72) and undefined karyotypes (n = 91)]. All patients were treated by induction and consolidation chemotherapies and finally went on hematopoietic stem cell transplantations (HSCT). Patients were divided into two subgroups, either with or without normal karyotype (NK) mosaicism. Seventy patients exhibited NK mosaicism and 93 did not. There were no significant differences in age, gender, chemotherapy cycles to achieve CR, HSCT donor type, source or intensity properties between the two subgroups. We found that NK mosaicism remaining in adverse-risk and undefined karyotype at diagnosis significantly correlates with better OS (p = 0.001) and lower CIR (p = 0.021) rate after HSCT. Our data show that the poor prognostic properties of unfavorable risk karyotype can be overcome to a great extent by allogeneic HSCT and chronic GVHD, especially in the subgroup with NK mosaicism. Cytogenetic mosaicism at initial diagnosis can be an influential factor for survival outcomes, even after HSCT.

  1. A new sympatric region for distinct karyotypic forms of Hoplias malabaricus (Pisces, Erythrinidae

    Directory of Open Access Journals (Sweden)

    G. G. Born

    Full Text Available Specimens of Hoplias malabaricus from Lagoa Carioca, an isolated lake of the Rio Doce State Park (state of Minas Gerais, Brazil, were cytogenetically studied. The diploid number was found to be constant, i.e., 2n = 42 chromosomes, although two karyotypic forms were found: karyotype A, characterized by 22M + 20SM chromosomes, observed only in a male specimen, and karyotype B, characterized by 24M + 16SM + 2ST and 24M + 17SM + 1ST chromosomes in female and male specimens, respectively. This sex difference found in karyotype B is related to an XX/XY sex chromosome system. Another female specimen of H. malabaricus, also carrying karyotype A, had previously been found in the same lake. The available data indicate that two sympatric cytotypes of H. malabaricus exist in the Lagoa Carioca, with cytotype A occurring at a lower frequency and differing from cytotype B by undifferentiated sex chromosomes.

  2. [Penile congenital abnormalities].

    Science.gov (United States)

    Boillot, B; Teklali, Y; Moog, R; Droupy, S

    2013-07-01

    Congenital abnormalities of the penis are usually diagnosed at birth and pose aesthetic and functional problems sometimes requiring surgical management. A literature review was conducted on Medline considering the articles listed until January 2012. Hypospadias is the most common malformation (1 in 250 boys. Familial forms: 7%). The causes remain hypothetical but the doubling of the incidence in 30 years could be linked to fetal exposure to endocrine disruptors "estrogen-like" used in the food industry in particular. Surgical treatment is usually intended to improve the aesthetic appearance but sometimes, in case of significant curvature or posterior meatus, necessary for normal sexual life and fertility. Other malformations (epispades, buried penis, transpositions, twists and preputial abnormalities) as well as management for functional or aesthetic consequences of these malformations in adulthood require complex surgical care in a specialized environment. The improvement of surgical techniques and pediatric anesthesia allows an early and effective specialized surgical approach of penile malformations. Management of sequelae in adulthood must be discussed and requires experience of surgical techniques on pediatric and adult penis. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  3. Explanatory memorandum on European Community Document 6323/87: proposal for a Council decision on a Community system of rapid exchange of information in cases of abnormal levels of radioactivity or of a nuclear accident

    International Nuclear Information System (INIS)

    1987-01-01

    The Council of the European Commnity proposes a system of rapid exchange of information in cases of abnormal radioactivity or a nuclear accident. In addition to the existing procedures of early notification drawn up by the International Atomic Energy Authority this proposes a further notification system between member states of the European Community. Under this there would be notification, not only of accidents with possible transboundary effects, but of any accident for which emergency measures are taken to protect the public. However, the United Kingdom would prefer the trigger of these procedures to be abnormally high radiation levels rather than the introduction of emergency measures. (U.K.)

  4. Tooth - abnormal colors

    Science.gov (United States)

    ... medlineplus.gov/ency/article/003065.htm Tooth - abnormal colors To use the sharing features on this page, please enable JavaScript. Abnormal tooth color is any color other than white to yellowish- ...

  5. Urine - abnormal color

    Science.gov (United States)

    ... medlineplus.gov/ency/article/003139.htm Urine - abnormal color To use the sharing features on this page, please enable JavaScript. The usual color of urine is straw-yellow. Abnormally colored urine ...

  6. Abnormal uterine bleeding

    Science.gov (United States)

    Anovulatory bleeding; Abnormal uterine bleeding - hormonal; Polymenorrhea - dysfunctional uterine bleeding ... ACOG committee opinion no. 557: Management of acute abnormal uterine bleeding in nonpregnant reproductive-aged women. Reaffirmed 2015. ACOG. ...

  7. Comprehensive imaging review of abnormalities of the umbilical cord.

    Science.gov (United States)

    Moshiri, Mariam; Zaidi, Sadaf F; Robinson, Tracy J; Bhargava, Puneet; Siebert, Joseph R; Dubinsky, Theodore J; Katz, Douglas S

    2014-01-01

    A complete fetal ultrasonographic (US) study includes assessment of the umbilical cord for possible abnormalities. Knowledge of the normal appearance of the umbilical cord is necessary for the radiologist to correctly diagnose pathologic conditions. Umbilical cord abnormalities can be related to cord coiling, length, and thickness; the placental insertion site; in utero distortion; vascular abnormalities; and primary tumors or masses. These conditions may be associated with other fetal anomalies and aneuploidies, and their discovery should prompt a thorough fetal US examination. Further workup and planning for a safe fetal delivery may include fetal echocardiography and karyotype analysis. Doppler US is a critical tool for assessment and diagnosis of vascular cord abnormalities. US also can be used for follow-up serial imaging evaluation of conditions that could result in fetal demise. Recent studies suggest that three- or four-dimensional Doppler US of the fetal umbilical cord and abdominal vasculature allows more accurate diagnosis of vascular abnormalities. Doppler US also is invaluable in assessment of fetal growth restriction since hemodynamic changes in the placenta or fetus would appear as a spectral pattern of increased resistance to forward flow in the fetal umbilical artery. Early detection of umbilical cord abnormalities and close follow-up can reduce the risk of morbidity and mortality and assist in decision making. ©RSNA, 2014.

  8. The karyotype of Cathorops sp, a marine catfish from Brazil

    Directory of Open Access Journals (Sweden)

    Vicente Gomes

    1992-01-01

    Full Text Available Cathorops sp has the diploid number of 54 chromosomes. The karyotype comprises lm + sm, 6m, 6sm and 14st pairs. This result is compared with those of other species of Ariidae, mainly Ariopsis felis and Arius dussumieri, found in literature.Foram realizados estudos cromossômicos em 25 espécimens de Cathorops sp pelo método de air-drying. O número modal diplóide encontrado foi de 54 cromossomos sendo 1 par m + sm, 6 pares m, 6 pares sm e 14 pares st. Os resultados são comparados com dados da literatura referentes a cromossomos de outros ariídeos, principalmente de Ariopsis felis e Arius dussumieri.

  9. Transformation and electrophoretic karyotyping of Coniochaeta ligniaria NRRL30616.

    Science.gov (United States)

    Nichols, Nancy N; Szynkarek, Matthew P; Skory, Christopher D; Gorsich, Steven W; López, Maria J; Guisado, Gema M; Nichols, Wade A

    2011-06-01

    Coniochaeta ligniaria NRRL30616 is an ascomycete that grows with yeast-like appearance in liquid culture. The strain has potential utility for conversion of fibrous biomass to fuels or chemicals. Furans and other inhibitory compounds in lignocellulosic biomass are metabolized by NRRL30616, facilitating subsequent microbial fermentation of biomass sugars. This study undertook initial characterization of the genetic system of C. ligniaria NRRL30616. Transformation using hygromycin as a dominant selectable marker was achieved using protoplasts generated by incubating cells in 1% (v/v) β-mercaptoethanol, followed by cell wall-digesting enzymes. Thirteen chromosomes with an estimated total size of 30.1 Mb were detected in C. ligniaria. The GC content of chromosomal DNA and of coding regions from cDNA sequences were 49.2 and 51.9%, respectively. This study is the first report of genome size, electrophoretic karyotype, and transformation system for a member of the Coniochaetales.

  10. A Rare Stapes Abnormality

    Directory of Open Access Journals (Sweden)

    Hala Kanona

    2015-01-01

    Full Text Available The aim of this study is to increase awareness of rare presentations, diagnostic difficulties alongside management of conductive hearing loss and ossicular abnormalities. We report the case of a 13-year-old female reporting progressive left-sided hearing loss and high resolution computed tomography was initially reported as normal. Exploratory tympanotomy revealed an absent stapedius tendon and lack of connection between the stapes superstructure and footplate. The footplate was fixed. Stapedotomy and stapes prosthesis insertion resulted in closure of the air-bone gap by 50 dB. A review of world literature was performed using MedLine. Middle ear ossicular discontinuity can result in significant conductive hearing loss. This can be managed effectively with surgery to help restore hearing. However, some patients may not be suitable or decline surgical intervention and can be managed safely conservatively.

  11. Factors affecting parental decisions to terminate pregnancy in the presence of chromosome abnormalities: a Japanese multicenter study.

    Science.gov (United States)

    Nishiyama, Miyuki; Sekizawa, Akihiko; Ogawa, Kohei; Sawai, Hideaki; Nakamura, Hiroaki; Samura, Osamu; Suzumori, Nobuhiro; Nakayama, Setsuko; Yamada, Takahiro; Ogawa, Masaki; Katagiri, Yukiko; Murotsuki, Jun; Okamoto, Yoko; Namba, Akira; Hamanoue, Haruka; Ogawa, Masanobu; Miura, Kiyonori; Izumi, Shunichiro; Kamei, Yoshimasa; Sago, Haruhiko

    2016-12-01

    To investigate the rates of termination of pregnancy (TOP) for fetal chromosomal abnormalities and factors related to such parental decision in Japan. A multicenter retrospective cohort study of chromosomal abnormalities diagnosed before 22 weeks of gestation between April 2008 and March 2015. The pregnancy outcomes and parental decisions were investigated. Among 931 fetuses with chromosome abnormalities, the total TOP rate was 75.1% (699/931). TOP rates were 89.3% (585/655) in autosomal aneuploidies and 40.8% (51/125) in sex chromosome aneuploidies. Trisomy 21 showed the highest TOP rate (93.8% [390/416]) followed by trisomy 18 (84.5% [163/193]) and trisomy 13 (71.9% [23/32]). Indications for karyotyping were related to a parental decision for TOP (p chromosome anomaly. The indications for prenatal karyotyping strongly affect the decision to TOP. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  12. Genomic and karyotypic variation in Drosophila parasitoids (Hymenoptera, Cynipoidea, Figitidae

    Directory of Open Access Journals (Sweden)

    Vladimir Gokhman

    2011-08-01

    Full Text Available Drosophila melanogaster Meigen, 1830 has served as a model insect for over a century. Sequencing of the 11 additional Drosophila Fallen, 1823 species marks substantial progress in comparative genomics of this genus. By comparison, practically nothing is known about the genome size or genome sequences of parasitic wasps of Drosophila. Here, we present the first comparative analysis of genome size and karyotype structures of Drosophila parasitoids of the Leptopilina Förster, 1869 and Ganaspis Förster, 1869 species. The gametic genome size of Ganaspis xanthopoda (Ashmead, 1896 is larger than those of the three Leptopilina species studied. The genome sizes of all parasitic wasps studied here are also larger than those known for all Drosophila species. Surprisingly, genome sizes of these Drosophila parasitoids exceed the average value known for all previously studied Hymenoptera. The haploid chromosome number of both Leptopilina heterotoma (Thomson, 1862 and L. victoriae Nordlander, 1980 is ten. A chromosomal fusion appears to have produced a distinct karyotype for L. boulardi (Barbotin, Carton et Keiner-Pillault, 1979 (n = 9, whose genome size is smaller than that of wasps of the L. heterotoma clade. Like L. boulardi, the haploid chromosome number for G. xanthopoda is also nine. Our studies reveal a positive, but non linear, correlation between the genome size and total chromosome length in Drosophila parasitoids. These Drosophila parasitoids differ widely in their host range, and utilize different infection strategies to overcome host defense. Their comparative genomics, in relation to their exceptionally well-characterized hosts, will prove to be valuable for understanding the molecular basis of the host-parasite arms race and how such mechanisms shape the genetic structures of insect communities.

  13. Distinct karyotypes in two offspring of a man with jumping translocation karyotype 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10].

    Science.gov (United States)

    Hu, Hua; Yao, Hong; Dong, Yanlin; Long, Yang; Xu, Liang; Hu, Bing; Xu, Gang; Liang, Zhiqing

    2014-08-01

    We examined a man and his daughter, who both had different jumping translocation karyotypes. The man's wife was pregnant and had been referred for prenatal diagnosis of the fetus. The karyotype of the husband's peripheral blood lymphocytes was 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10]. The karyotype of the daughter's peripheral blood lymphocytes was 45,XX,der(16)t(16;22)(q24;q11.2), -22 [45]/45,XX,der(9)t(9;22)(q34;q11.2), -22 [30]/45,XX,der(5)t(5;22)(q35;q11.2), -22 [25]. The wife and the fetus both had a normal karyotype. To the best of our knowledge, the present familial transmitted jumping translocation has not been previously described and the jumping translocation in the husband and daughter did not cause any phenotypic abnormalities. © 2014 Wiley Periodicals, Inc.

  14. [Prevalence of congenital abnormalities identified in fetuses with 13, 18 and 21 chromosomal trisomy].

    Science.gov (United States)

    Emer, Caroline Soares Cristofari; Duque, Julio Alejandro Peña; Müller, Ana Lúcia Letti; Gus, Rejane; Sanseverino, Maria Teresa Vieira; da Silva, André Anjos; Magalhães, José Antonio de Azevedo

    2015-07-01

    To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition. A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Teaching Hospital in Brazil Southern Region. Malformations identified through morphological ultrasonography were described and, subsequently, confirmed in newborn examinations and/or fetal autopsy. The results were analyzed using Fisher's test and analysis of variance (ANOVA), with a 5% level of significance (p=0.05). Sixty-nine cases of trisomy were diagnosed among 840 exams; nine were excluded due to outcome outside Hospital de Clínicas de Porto Alegre or incomplete records, remaining 60 cases (nine cases of chromosome 13 trisomy, 26 of chromosome 18, and 25 of chromosome 21). In all three groups, heart disease occurred in most cases; the ventricular septal defect was more prevalent and occurred in 66.7% of the trisomy 13 group. Gastrointestinal abnormalities were more prevalent in the trisomy 18 group, especially omphalocele (38.5%; pmalformations significantly differed among the trisomy groups. Hand defects occurred in 50% of trisomy 18 cases, and in 44.4% of all trisomy 13 cases (pcongenital clubfoot was more common in the trisomy 18 group, being detected in 46.2% of fetuses (pmalformations identified at ultrasound are suggestive of trisomy and represent an important tool for etiologic diagnosis and prenatal and pre-conception genetic counseling.

  15. Karyomorphology and karyotype asymmetry in the South American Caesalpinia species (Leguminosae and Caesalpinioideae).

    Science.gov (United States)

    Rodrigues, P S; Souza, M M; Corrêa, R X

    2014-10-20

    With the purpose of addressing the pattern of karyotype evolution in Caesalpinia species, chromosome morphology was characterized in five species from Brazil, and karyotypic asymmetry was analyzed in 14 species from South America. All accessions had the chromosome number 2n = 24, which was first described here for Caesalpinia laxiflora Tul. and Cenostigma macrophyllum Tul. The karyotype formula of C. laxiflora, Caesalpinia pyramidalis Tul., and C. macrophyllum was 12 m. The formula varies amongst the populations of Caesalpinia bracteosa Tul. (11 m + 1 sm) and Caesalpinia echinata Lam. (10 m + 2 sm and 9 m + 3 sm). The intra- and interspecific variations in chromosome length were significant (analysis of variance, P karyotype (AI = 10.52), whereas Caesalpinia paraguarienses (D. Parodi) Burkat. and Caesalpinia gilliesii (Hook.) Benth. had the most symmetrical karyotypes (AI = 0.91 and 1.10, respectively). There has been a trend to lower AI values for the Caesalpinia s.l. species assigned in Libidibia and intermediate values for those combined into Poincianella. On the other hand, the karyotypes of Erythrostemon species had extremely different AI values. This study confirms the existence of karyotype variability in Caesalpinia s.l. while revealing a possible uniformity of this trait in some of the new genera that are being divided from Caesalpinia s.l. More broadly, the 2n = 24 chromosome number is conserved. Metacentric chromosomes and low AI values predominate among Caesalpinia s.l. and Cenostigma.

  16. Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis.

    Science.gov (United States)

    Grande, M; Jansen, F A R; Blumenfeld, Y J; Fisher, A; Odibo, A O; Haak, M C; Borrell, A

    2015-12-01

    To estimate the incremental yield of detecting copy number variants (CNVs) by genomic microarray over karyotyping in fetuses with increased nuchal translucency (NT) diagnosed by first-trimester ultrasound. This was a systematic review conducted in accordance with PRISMA criteria. We searched PubMed, Ovid MEDLINE and Web of Science for studies published between January 2009 and January 2015 that described CNVs in fetuses with increased NT, usually defined as ≥  3.5 mm, and normal karyotype. Search terms included: fetal or prenatal, nuchal translucency or cystic hygroma or ultrasound anomaly, array comparative genomic hybridization or copy number variants, with related search terms. Risk differences were pooled to estimate the overall and stratified microarray incremental yield using RevMan. Quality assessment of included studies was performed using the Quality Assessment tool for Diagnostic Accuracy Studies (QUADAS-2) checklist. Seventeen studies met the inclusion criteria for analysis. Meta-analysis indicated an incremental yield of 5.0% (95% CI, 2.0-8.0%) for the detection of CNVs using microarray when pooling results. Stratified analysis of microarray results demonstrated a 4.0% (95% CI, 2.0-7.0%) incremental yield in cases of isolated NT and 7.0% (95% CI, 2.0-12.0%) when other malformations were present. The most common pathogenic CNVs reported were 22q11.2 deletion, 22q11.2 duplication, 10q26.12q26.3 deletion and 12q21q22 deletion. The pooled prevalence for variants of uncertain significance was 1%. The use of genomic microarray provides a 5.0% incremental yield of detecting CNVs in fetuses with increased NT and normal karyotype. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

  17. Comparative karyotype analysis in diploid and triploid Dolichoplana carvalhoi (Tricladida, Terricola, Rhynchodemidae from Brazil

    Directory of Open Access Journals (Sweden)

    Luciana Alvarez

    2007-03-01

    Full Text Available In this work, we present cytogenetic data for the land planarian Dolichoplana carvalhoi. Two different karyotypes, one diploid (2n = 2x = 14 chromosomes and one triploid (2n = 3x = 21 chromosomes, corresponding to two morphological body patterns, are described. Chromosomes from regenerating blastema were studied after routine Giemsa staining and CBG banding. Our analyses revealed heteromorphisms in chromosomes 2, 3 and 4 of the diploid karyotype and in chromosomes 1, 3 and 7 of the triploid karyotype. Further studies are needed in order to determine if the two morphological patterns of D. carvalhoi represent distinct species.

  18. 11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

    DEFF Research Database (Denmark)

    Almind, Gitte J; Brøndum-Nielsen, Karen; Bangsgaard, Regitze

    2009-01-01

    ABSTRACT: WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract......, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face. Cytogenetic analysis showed a deletion on 11p that was further characterized using FISH and MLPA analyses. The deletion (11p13-p12) located in the area between the deletions associated with the WAGR and Potocki-Shaffer syndromes had...... a maximum size of 8.5 Mb and encompasses 44 genes. Deletion of WT1 explains the genital abnormalities observed. As PAX6 was intact the cataract observed cannot be explained by a deletion of this gene. Seizures have been described in Potocki-Shaffer syndrome while mental retardation has been described...

  19. Primary amenorrhea after bone marrow transplantation and adjuvant chemotherapy misdiagnosed as disorder of sex development: A case report.

    Science.gov (United States)

    Huang, He; Tian, Qinjie

    2016-11-01

    Disorders of sex development (DSD) is a congenital condition in which the development of chromosomal, gonadal or genital sex is atypical. Majority of patients present clinical characteristics of primary amenorrhea, absent secondary sex characters, and abnormal hormone level. A female appearance patient with primary amenorrhea and 46 XY karyotype seems to be solid evidences to diagnose Y-chromosome-related DSD diseases, while it is not necessarily the accurate diagnosis. We report the case of an 18-year-old girl with primary amenorrhea and 46 XY karyotype misdiagnosed as Y-chromosome-related DSD. The patient has normal female reproductive organs and a disrupted pubertal development after the treatment for acute myeloid leukemia (AML). We consider that her gonads were probably functional and later impaired after AML. The clinical manifestations were not consistent with DSD. With doubts, we found that she received bone marrow transplantation (BMT) from her brother and adjuvant chemotherapy 6 years ago. Her karyotype changed from normal female to a karyotype of donor (her brother) origin after BMT.Adjuvant chemotherapy for AML may impair her ovarian function and finally bring about disrupted puberty or primary ovarian insufficiency (POI). We provided close follow-up. During the second visit, the patient had her menarche lasting 4 days without any medication. The present case serves as a reminder that a correct diagnosis depends on the comprehensive collection of present and past medical history, complete physical examination, and careful evaluation of related adjuvant tests. Do not presumptively judge a test and mislead reasoning. In addition, ovarian function protection should be considered for young girls having chemotherapy.

  20. Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX.

    Science.gov (United States)

    Cremonini, Giorgio; Poggi, Alice; Capucci, Roberta; Vesce, Fortunato; Patella, Alfredo; Marci, Roberto

    2014-01-01

    Fetal congenital chylothorax is a rare condition that occurs sporadically or can be associated with abnormal karyotype or structural chromosomal anomalies. We report a unique case of fetal congenital bilateral chylothorax associated with mosaicism 47,XXX/46,XX. A female fetus affected by massive bilateral hydrothorax and ascites was diagnosed at 34(+1) weeks of gestation. Previous ultrasonographic exams were completely normal. Immune causes of hydrops were excluded. Elective cesarean section was performed soon after bilateral thoracocentesis. The analysis of drained pleural fluid revealed its lymphatic nature. The fetal karyotyping, performed on chorionic villi at the 11th week, had shown mosaicism 47,XXX/46,XX, later confirmed in the newborn's blood. We hypothesized that chylothorax may be part of the phenotypic spectrum of 47 XXX karyotype and we suggest an ultrasound follow-up of the fetus at closer intervals than the routine timing for this condition, even if it is not usually characterized by severe phenotypic features. © 2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology.

  1. Skin manifestations in a case of trisomy 16 mosaicism

    DEFF Research Database (Denmark)

    Ousager, Lilian Bomme; Brandrup, Flemming; Andersen, Charlotte Brasch

    2006-01-01

    We present a 48-year-old man with unilateral dermatological manifestations including hypertrichosis, telangiectasia, hyperkeratosis and hyperpigmentation. Additional findings included skeletal abnormalities and left-sided hearing loss. Skin biopsies showed changes characteristic of porokeratosis....... Fibroblast karyotyping from affected skin demonstrated trisomy 16 mosaicism, in contrast to the normal karyotype in unaffected skin and blood lymphocytes. The possible role of trisomy 16 in porokeratosis is discussed....

  2. Contribution of chromosomal abnormalities and genes of the major histocompatibility complex to early pregnancy losses

    Directory of Open Access Journals (Sweden)

    Tkach I. R.

    2015-02-01

    Full Text Available Aim. The determination of chromosomal abnormalities in samples from early pregnancy losses and allelic polymorphism of HLA–DRB1 and DQA1 genes in couples with recurrent miscarriage. Methods. Banding cytogenetic and interphase mFISH analysis, DNA extraction by salting method, PCR, agarose gel electrophoresis. Results. Cytogenetic and molecular-cytogenetic investigations of SA material identified karyotype anomalies in 32.4 % of cases with prevalence of autosomal trisomy – 42.65 %, triploidy – 30.38 % and monosomy X – 19.11 %. Complex analysis of frequency and distribution of allelic variants of genes HLA-DRB1 and HLA-DQA1 allowed establishing the alleles DRB1*0301, DRB1*1101-1104 and DQA1*0501 to be aggressor alleles in women with recurrent pregnancy loss (RPL. The cumulative homology of allelic polymorphism of more than 50 % of HLA-DRB1 and HLA-DQA1 loci between partners increases the risk of RPL by almost four times. Conclusion. The detected chromosome aneuploidies in the samples from products of conception and the changes in the major histocompatibility complex genes can cause the failure of a couples reproductive function and can lead to an early fetal loss.

  3. Molecular Karyotyping by Array CGH. Linking gene dosage alterations to disease phenotypes.

    NARCIS (Netherlands)

    Vissers, L.E.L.M.

    2007-01-01

    Chromosomal rearrangements can lead to various serious clinical manifestations, including mental retardation and congenital malformation syndromes. Chromosomal rearrangements larger than 5-10 Mb in size can be detected by conventional karyotyping. A considerable number of clinical disorders,

  4. Centromere strength provides the cell biological basis for meiotic drive and karyotype evolution in mice

    OpenAIRE

    Chmátal, Lukáš; Gabriel, Sofia I.; Mitsainas, George P.; Martínez-Vargas, Jessica; Ventura, Jacint; Searle, Jeremy B.; Schultz, Richard M.; Lampson, Michael A.

    2014-01-01

    Mammalian karyotypes (number and structure of chromosomes) can vary dramatically over short evolutionary time frames [1–3]. There are examples of massive karyotype conversion, from mostly telocentric (centromere terminal) to mostly metacentric (centromere internal), in 102–105 years [4, 5]. These changes typically reflect rapid fixation of Robertsonian (Rb) fusions, a common chromosomal rearrangement that joins two telocentric chromosomes at their centromeres to create one metacentric [5]. Fi...

  5. Human ESCs predisposition to karyotypic instability: Is a matter of culture adaptation or differential vulnerability among hESC lines due to inherent properties?

    Directory of Open Access Journals (Sweden)

    Bueno Clara

    2008-10-01

    Full Text Available Abstract Background The use of human embryonic stem cells (hESCs in research is increasing and hESCs hold the promise for many biological, clinical and toxicological studies. Human ESCs are expected to be chromosomally stable since karyotypic changes represent a pitfall for potential future applications. Recently, several studies have analysed the genomic stability of several hESC lines maintained after prolonged in vitro culture but controversial data has been reported. Here, we prompted to compare the chromosomal stability of three hESC lines maintained in the same laboratory using identical culture conditions and passaging methods. Results Molecular cytogenetic analyses performed in three different hESC lines maintained in parallel in identical culture conditions revealed significant differences among them in regard to their chromosomal integrity. In feeders, the HS181, SHEF-1 and SHEF-3 hESC lines were chromosomally stable up to 185 passages using either mechanical or enzymatic dissection methods. Despite the three hESC lines were maintained under identical conditions, each hESC line behaved differently upon being transferred to a feeder-free culture system. The two younger hESC lines, HS181 (71 passages and SHEF-3 (51 passages became chromosomally unstable shortly after being cultured in feeder-free conditions. The HS181 line gained a chromosome 12 by passage 17 and a marker by passage 21, characterized as a gain of chromosome 20 by SKY. Importantly, the mosaicism for trisomy 12 gradually increased up to 89% by passage 30, suggesting that this karyotypic abnormality provides a selective advantage. Similarly, the SHEF-3 line also acquired a trisomy of chromosome 14 as early as passage 10. However, this karyotypic aberration did not confer selective advantage to the genetically abnormal cells within the bulk culture and the level of mosaicism for the trisomy 14 remained overtime between 15%–36%. Strikingly, however, a much older hESC line

  6. Chromosome painting shows that skunks (Mephitidae, Carnivora) have highly rearranged karyotypes.

    Science.gov (United States)

    Perelman, P L; Graphodatsky, A S; Dragoo, J W; Serdyukova, N A; Stone, G; Cavagna, P; Menotti, A; Nie, W; O'Brien, P C M; Wang, J; Burkett, S; Yuki, K; Roelke, M E; O'Brien, S J; Yang, F; Stanyon, R

    2008-01-01

    The karyotypic relationships of skunks (Mephitidae) with other major clades of carnivores are not yet established. Here, multi-directional chromosome painting was used to reveal the karyological relationships among skunks and between Mephitidae (skunks) and Procyonidae (raccoons). Representative species from three genera of Mephitidae (Mephitis mephitis, 2n = 50; Mephitis macroura, 2n = 50; Conepatus leuconotus, 2n = 46; Spilogale gracilis, 2n = 60) and one species of Procyonidae (Procyon lotor, 2n = 38) were studied. Chromosomal homology was mapped by hybridization of five sets of whole-chromosome paints derived from stone marten (Martes foina, 2n = 38), cat, skunks (M. mephitis; M. macroura) and human. The karyotype of the raccoon is highly conserved and identical to the hypothetical ancestral musteloid karyotype, suggesting that procyonids have a particular importance for establishing the karyological evolution within the caniforms. Ten fission events and five fusion events are necessary to generate the ancestral skunk karyotype from the ancestral carnivore karyotype. Our results show that Mephitidae joins Canidae and Ursidae as the third family of carnivores that are characterized by a high rate of karyotype evolution. Shared derived chromosomal fusion of stone marten chromosomes 6 and 14 phylogenetically links the American hog-nosed skunk and eastern spotted skunk.

  7. Centromere strength provides the cell biological basis for meiotic drive and karyotype evolution in mice.

    Science.gov (United States)

    Chmátal, Lukáš; Gabriel, Sofia I; Mitsainas, George P; Martínez-Vargas, Jessica; Ventura, Jacint; Searle, Jeremy B; Schultz, Richard M; Lampson, Michael A

    2014-10-06

    Mammalian karyotypes (number and structure of chromosomes) can vary dramatically over short evolutionary time frames. There are examples of massive karyotype conversion, from mostly telocentric (centromere terminal) to mostly metacentric (centromere internal), in 10(2)-10(5) years. These changes typically reflect rapid fixation of Robertsonian (Rb) fusions, a common chromosomal rearrangement that joins two telocentric chromosomes at their centromeres to create one metacentric. Fixation of Rb fusions can be explained by meiotic drive: biased chromosome segregation during female meiosis in violation of Mendel's first law. However, there is no mechanistic explanation of why fusions would preferentially segregate to the egg in some populations, leading to fixation and karyotype change, while other populations preferentially eliminate the fusions and maintain a telocentric karyotype. Here we show, using both laboratory models and wild mice, that differences in centromere strength predict the direction of drive. Stronger centromeres, manifested by increased kinetochore protein levels and altered interactions with spindle microtubules, are preferentially retained in the egg. We find that fusions preferentially segregate to the polar body in laboratory mouse strains when the fusion centromeres are weaker than those of telocentrics. Conversely, fusion centromeres are stronger relative to telocentrics in natural house mouse populations that have changed karyotype by accumulating metacentric fusions. Our findings suggest that natural variation in centromere strength explains how the direction of drive can switch between populations. They also provide a cell biological basis of centromere drive and karyotype evolution. Copyright © 2014 Elsevier Ltd. All rights reserved.

  8. Insights into the karyotype evolution and speciation of the beetle Euchroma gigantea (Coleoptera: Buprestidae).

    Science.gov (United States)

    Xavier, Crislaine; Soares, Rógean Vinícius Santos; Amorim, Igor Costa; Cabral-de-Mello, Diogo Cavalcanti; de Cássia de Moura, Rita

    2018-03-09

    Euchroma Dejean, 1833 (Buprestidae: Coleoptera) is a monotypic genus comprising the species Euchroma gigantea, with populations presenting a degree of karyotypic variation/polymorphism rarely found within a single taxonomic (specific) unit, as well as drastically incompatible meiotic configurations in populations from extremes of the species range. To better understand the complex karyotypic evolution of E. gigantea, the karyotypes of specimens from five populations in Brazil were investigated using molecular cytogenetics and phylogenetic approaches. Herein, we used FISH with histone genes as well as sequencing of the COI to determine differential distribution of markers and relationships among populations. The analyses revealed new karyotypes, with variability for chromosome number and morphology of multiple sex chromosome mechanisms, occurrence of B chromosome variants (punctiform and large ones), and high dispersion of histone genes in different karyotypes. These data indicate that chromosomal polymorphism in E. gigantea is greater than previously reported, and that the species can be a valuable model for cytogenetic studies. The COI phylogenetic and haplotype analyses highlighted the formation of three groups with chromosomally polymorphic individuals. Finally, we compared the different karyotypes and proposed a model for the chromosomal evolution of this species. The species E. gigantea includes at least three cytogenetically polymorphic lineages. Moreover, in each of these lineages, different chromosomal rearrangements have been fixed. Dispersion of repetitive sequences may have favored the high frequency of these rearrangements, which could be related to both adaptation of the species to different habitats and the speciation process.

  9. Karyotype and reproduction mode of the rodent parasite Strongyloides venezuelensis.

    Science.gov (United States)

    Hino, Akina; Tanaka, Teruhisa; Takaishi, Maho; Fujii, Yumiko; Palomares-Rius, Juan E; Hasegawa, Koichi; Maruyama, Haruhiko; Kikuchi, Taisei

    2014-11-01

    SUMMARY Strongyloides venezuelensis is a parasitic nematode that infects rodents. Although Strongyloides species described to date are known to exhibit parthenogenetic reproduction in the parasitic stage of their life cycle and sexual reproduction in the free-living stage, we did not observe any free-living males in S. venezuelensis in our strain, suggesting that the nematode is likely to depend on parthenogenetic reproduction. We confirmed by cytological analysis that S. venezuelensis produces eggs by parthenogenesis during the parasitic stage of its life cycle. Phylogenetic analysis using nearly the full length of 18S and D3 region of 28S ribosomal RNA gene suggested that S. venezuelensis is distantly related to another rodent parasite, namely Strongyloides ratti, but more closely related to a ruminant parasite, Strongyloides papillosus. Karyotype analysis revealed S. venezuelensis reproduces with mitotic parthenogenesis, and has the same number of chromosomes as S. papillosus (2n = 4), but differs from S. ratti (2n = 6) in this regard. These results, taken together, suggest that S. venezuelensis evolved its parasitism for rodents independently from S. ratti and, therefore, is likely to have a different reproductive strategy.

  10. Clinical and genetic characterization of six cases with complete ...

    Indian Academy of Sciences (India)

    The clinical examinations such as sex hormone test and B ultrasound were performed and the genetic characterization of patients were evaluated by karyotype analysis, polymerase chain reaction and DNA sequencing. The six cases with 46, XY karyotype were diagnosed with CAIS and four novel AR mutations were ...

  11. Defining Abnormally Low Tenders

    DEFF Research Database (Denmark)

    Ølykke, Grith Skovgaard; Nyström, Johan

    2017-01-01

    The concept of an abnormally low tender is not defined in EU public procurement law. This article takes an interdisciplinary law and economics approach to examine a dataset consisting of Swedish and Danish judgments and verdicts concerning the concept of an abnormally low tender. The purpose...

  12. Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function

    Directory of Open Access Journals (Sweden)

    Rossella Cannarella

    2017-09-01

    Full Text Available Insulin-like growth factor 1 receptor (IGF1R, mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with chromosome 15 structural abnormalities. We report two male patients with the smallest 15q26.3 chromosome duplication described so far, and a female patient with ring chromosome 15 syndrome. Patient one, with a 568 kb pure duplication, had overgrowth, developmental delay, mental and psychomotor retardation, obesity, cryptorchidism, borderline low testis volume, severe oligoasthenoteratozoospermia and gynecomastia. We found a 1.8-fold increase in the IGF1R mRNA and a 1.3-fold increase in the IGF1R protein expression (P < 0.05. Patient two, with a 650 kb impure duplication, showed overgrowth, developmental delay, mild mental retardation, precocious puberty, low testicular volume and severe oligoasthenoteratozoospermia. The IGF1R mRNA and protein expression was similar to that of the control. Patient three, with a 46,XX r(15 (p10q26.2 karyotype, displayed intrauterine growth retardation, developmental delay, mental and psychomotor retardation. We found a <0.5-fold decrease in the IGF1R mRNA expression and an undetectable IGF1R activity. After reviewing the previously 96 published cases of chromosome 15q duplication, we found that neurological disorders, congenital cardiac defects, typical facial traits and gonadal abnormalities are the prominent features in patients with chromosome 15q duplication. Interestingly, patients with 15q deletion syndrome display similar features. We speculate that both the increased and decreased IGF1R gene expression may play a role in the etiology of neurological and gonadal disorders.

  13. Molecular evaluation of CEBPA gene mutation in normal karyotype acute myeloid leukemia: a comparison of two methods and report of novel CEBPA mutations from Indian acute myeloid leukemia patients.

    Science.gov (United States)

    Ahmad, Firoz; Rajput, Saket; Mandava, Swarna; Das, Bibhu Ranjan

    2012-07-01

    Mutation in the CAAT/enhancer binding protein-α (CEBPA) gene has been reported as being one of the common genetic abnormalities in acute myeloid leukemia (AML) and is associated with a good clinical outcome. We intend to explore the prevalence of CEBPA mutations and evaluate the efficacy of fragment and sequencing analysis methods for CEBPA mutation detection in Indian AML patients. The coding region of the CEBPA gene was screened in 36 normal karyotype AML patients by fragment analysis and direct sequencing. We identified five CEBPA sequence variations in three patient samples (8.3%) by direct sequencing analysis, of which three were novel mutations. These mutations were clustered mostly in the TAD1 and basic region leucine zipper region of the CEBPA protein. Six cases demonstrated a previously reported polymorphism. Two of the three positive cases showed double mutations, and one case had a single mutation. All five mutations were also detected by fragment analysis, indicating a sensitivity of 100% (5/5). No correlation with clinical parameters including age, sex, white blood cell count, hemoglobin, and platelet count between patients with and without mutation was observed. Interestingly, CEBPA mutations were significantly higher in patients with WT1 mutation, while no correlation with FLT3 and NPM1 was observed. We report for the first time the frequency of CEBPA mutation from an Indian patients (8.3%). The identification of novel CEBPA mutations added new insights into the genetic heterogeneity of AML. Our result suggests that the optimal approach for detecting CEBPA mutations in AML can be a combination of fragment analysis and direct sequencing.

  14. 11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

    Directory of Open Access Journals (Sweden)

    Baekgaard Peter

    2009-02-01

    Full Text Available Abstract WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region. We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face. Cytogenetic analysis showed a deletion on 11p that was further characterized using FISH and MLPA analyses. The deletion (11p13-p12 located in the area between the deletions associated with the WAGR and Potocki-Shaffer syndromes had a maximum size of 8.5 Mb and encompasses 44 genes. Deletion of WT1 explains the genital abnormalities observed. As PAX6 was intact the cataract observed cannot be explained by a deletion of this gene. Seizures have been described in Potocki-Shaffer syndrome while mental retardation has been described in both WAGR and Potocki-Shaffer syndrome. Characterization of this patient contributes further to elucidate the function of the genes in the 11p14-p12 chromosome region.

  15. Adverse pregnancy outcomes after abnormal first-trimester screening for aneuploidy.

    Science.gov (United States)

    Goetzl, Laura

    2010-09-01

    Women with abnormal results of first trimester screening but with a normal karyotype are at risk for adverse pregnancy outcomes. A nuchal translucency of greater than 3.5 mm is associated with an increased risk of subsequent pregnancy loss, fetal infection, fetal heart abnormalities, and other structural abnormalities. Abnormal levels of first trimester analytes are also associated with adverse pregnancy outcomes, but the predictive value is less impressive. As a single marker, pregnancy-associated plasma protein (PAPP)-A level less than 1st percentile has a good predictive value for subsequent fetal growth restriction. Women with PAPP-A level less than 5th percentile should undergo subsequent risk assessment with routine maternal serum afetoprotein screening with the possible addition of uterine artery pulsatility index assessment in the midtrimester. Copyright 2010 Elsevier Inc. All rights reserved.

  16. Abnormality of Auricular Muscles in Congenital Auricular Deformities.

    Science.gov (United States)

    Yotsuyanagi, Takatoshi; Yamauchi, Makoto; Yamashita, Ken; Sugai, Asuka; Gonda, Ayako; Kitada, Ayaka; Saito, Tamotsu; Urushidate, Satoshi

    2015-07-01

    It has been suggested that there is a close association of abnormality in auricular muscles with various congenital auricular deformities. However, there has been no investigation to determine what muscles are involved and how they affect the deformity. The authors examined abnormalities of auricular muscles for patients with various auricular deformities. The authors examined 77 auricles of 62 patients with congenital auricular deformities, including cryptotia, Stahl's ear, prominent ear, lop ear, and others. The superior and posterior auricular muscles from the extrinsic auricular muscle group and the auricular oblique and transverse muscles from the auricular intrinsic muscle group were investigated. The authors found characteristic features of the abnormality of the muscle for each auricular deformity. In nearly all cases of cryptotia, abnormality was found in the superior auricular, auricular oblique, and auricular transverse muscles. Abnormal insertion was found mainly in the superior auricular muscle and was the main cause of cryptotia. In Stahl's ear, the major abnormality was abnormal insertion of the auricular transverse muscle, which creates an abnormal cartilaginous prominence in the scapha. The abnormality in cases of prominent ear was clearly limited mostly to the auricular transverse muscle and, in some cases, to the posterior auricular muscle. In lop ear, abnormality was mostly found in the auricular transverse muscle, with elongation, and in the superior auricular or auricular oblique muscle in some cases. There is a tendency for a specific muscle abnormality to be found in each deformity. It is important to identify the abnormal muscle and correct the abnormality during the operation.

  17. Prognostic significance of complex karyotype and monosomal karyotype in adult patients with acute lymphoblastic leukemia treated with risk-adapted protocols.

    Science.gov (United States)

    Motlló, Cristina; Ribera, Josep-María; Morgades, Mireia; Granada, Isabel; Montesinos, Pau; González-Campos, José; Fernández-Abellán, Pascual; Tormo, Mar; Bethencourt, Concepción; Brunet, Salut; Hernández-Rivas, Jesús-María; Moreno, María-José; Sarrà, Josep; Del Potro, Eloy; Barba, Pere; Bernal, Teresa; Grande, Carlos; Grau, Javier; Cervera, José; Feliu, Evarist

    2014-12-15

    The karyotype is a predictor of outcomes in adults with acute lymphoblastic leukemia (ALL). The unfavorable prognostic significance of complex karyotype (CK) has been reported, whereas the prognostic relevance of monosomal karyotype (MK) has not been consistently evaluated. We aimed to assess the prognostic value of CK and MK in adults with ALL treated with risk-adapted protocols of the Spanish PETHEMA Group. The karyotypes of 881 adult ALL patients treated according to the protocols of the PETHEMA Group between 1993 and 2012 were centrally reviewed. CK and MK were assessed according to Moorman's criteria, and Breem's criteria, respectively. Specific analyses according to the risk groups and to the presence of t(9:22) were performed. Of 364 evaluable patients 33 (9.2%) had CK, and 68 of 535 evaluable patients (12.8%) had MK. Complete remission rate, remission duration, and overall survival were not significantly different according to the presence of CK or MK in the whole series, according to the B or T lineage, in the high-risk group, or in patients with t(9;22), regardless of imatinib treatment, and in patients who received chemotherapy alone or chemotherapy followed by stem cell transplantation Our study shows that CK and MK were not associated with a worse prognosis in adult patients with ALL treated with risk-adapted or subtype-oriented protocols. In patients with Ph+ ALL, MK did not have an impact on prognosis irrespective of imatinib treatment. © 2014 American Cancer Society.

  18. Karyotype differentiation in Chromaphyosemion killifishes (Cyprinodontiformes, Nothobranchiidae)II: Cytogenetic and mitochondrial DNA analyses demostrate karyotype differentiation and its evolutionary direction in C. riggenbachi

    Czech Academy of Sciences Publication Activity Database

    Völker, M.; Sonnenberg, R.; Ráb, Petr; Kullmann, H.

    2006-01-01

    Roč. 115, 1 (2006), s. 70-83 ISSN 1424-8581 Grant - others:DFG Ku-1469/2-1; DFG Mi-649/2-1; DAAD D/03/44465 Institutional research plan: CEZ:AV0Z50450515 Keywords : karyotype differentiation Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.993, year: 2006

  19. Karyotypic evolution in the Galliformes: an examination of the process of karyotypic evolution by comparison of the molecular cytogenetic findings with the molecular phylogeny.

    Science.gov (United States)

    Shibusawa, M; Nishibori, M; Nishida-Umehara, C; Tsudzuki, M; Masabanda, J; Griffin, D K; Matsuda, Y

    2004-01-01

    To define the process of karyotypic evolution in the Galliformes on a molecular basis, we conducted genome-wide comparative chromosome painting for eight species, i.e. silver pheasant (Lophura nycthemera), Lady Amherst's pheasant (Chrysolophus amherstiae), ring-necked pheasant (Phasianus colchicus), turkey (Meleagris gallopavo), Western capercaillie (Tetrao urogallus), Chinese bamboo-partridge (Bambusicola thoracica) and common peafowl (Pavo cristatus) of the Phasianidae, and plain chachalaca (Ortalis vetula) of the Cracidae, with chicken DNA probes of chromosomes 1-9 and Z. Including our previous data from five other species, chicken (Gallus gallus), Japanese quail (Coturnix japonica) and blue-breasted quail (Coturnix chinensis) of the Phasianidae, guinea fowl (Numida meleagris) of the Numididae and California quail (Callipepla californica) of the Odontophoridae, we represented the evolutionary changes of karyotypes in the 13 species of the Galliformes. In addition, we compared the cytogenetic data with the molecular phylogeny of the 13 species constructed with the nucleotide sequences of the mitochondrial cytochrome b gene, and discussed the process of karyotypic evolution in the Galliformes. Comparative chromosome painting confirmed the previous data on chromosome rearrangements obtained by G-banding analysis, and identified several novel chromosome rearrangements. The process of the evolutionary changes of macrochromosomes in the 13 species was in good accordance with the molecular phylogeny, and the ancestral karyotype of the Galliformes is represented. Copyright 2004 S. Karger AG, Basel

  20. Detailed molecular characterisation of acute myeloid leukaemia with a normal karyotype using targeted DNA capture.

    Science.gov (United States)

    Conte, N; Varela, I; Grove, C; Manes, N; Yusa, K; Moreno, T; Segonds-Pichon, A; Bench, A; Gudgin, E; Herman, B; Bolli, N; Ellis, P; Haddad, D; Costeas, P; Rad, R; Scott, M; Huntly, B; Bradley, A; Vassiliou, G S

    2013-09-01

    Advances in sequencing technologies are giving unprecedented insights into the spectrum of somatic mutations underlying acute myeloid leukaemia with a normal karyotype (AML-NK). It is clear that the prognosis of individual patients is strongly influenced by the combination of mutations in their leukaemia and that many leukaemias are composed of multiple subclones, with differential susceptibilities to treatment. Here, we describe a method, employing targeted capture coupled with next-generation sequencing and tailored bioinformatic analysis, for the simultaneous study of 24 genes recurrently mutated in AML-NK. Mutational analysis was performed using open source software and an in-house script (Mutation Identification and Analysis Software), which identified dominant clone mutations with 100% specificity. In each of seven cases of AML-NK studied, we identified and verified mutations in 2-4 genes in the main leukaemic clone. Additionally, high sequencing depth enabled us to identify putative subclonal mutations and detect leukaemia-specific mutations in DNA from remission marrow. Finally, we used normalised read depths to detect copy number changes and identified and subsequently verified a tandem duplication of exons 2-9 of MLL and at least one deletion involving PTEN. This methodology reliably detects sequence and copy number mutations, and can thus greatly facilitate the classification, clinical research, diagnosis and management of AML-NK.

  1. Plant abnormality diagnosis device

    International Nuclear Information System (INIS)

    Saeki, Akira.

    1992-01-01

    The device of the present invention diagnose an abnormal event occurred in a large-scaled plant, such as a nuclear power plant. The device comprises the following four functions. (1) Abnormality candidates are estimated based on an intelligence base storing characteristics established between the characteristics/functions and physical amounts of the plant components, and detected abnormality and measured values. Among the candidates, one which coincidents with the measured value such as an actual process amount is judged as a first cause. (2) In addition, a real time plant behavior is estimated based on parameters determining a plant operation mode. The candidate for the abnormality cause is estimated by the comparison between the result of the estimation and the measured value such as a process amount. (3) Characteristics established between the characteristics/functions and the physical amount of the plant components are structured stepwise thereby identifying the first abnormality cause. (4) Inactuated or failed portions of the components for restoring the abnormality to normal state are identified based on the intelligence base simultaneously with the estimation for the first abnormality cause. (I.S.)

  2. Klinefelter's syndrome (karyotype 47,XXY) and schizophrenia-spectrum pathology

    NARCIS (Netherlands)

    Van Rijn, Sophie; Aleman, Andre; Swaab, Hanna; Kahn, Rene S.

    2006-01-01

    Klinefelter's syndrome, characterised by a 47,XXYchromosomal pattern, has largely been associated with physical abnormalities. Here, we report high levels of schizophrenia-spectrum pathology in 32 men with this syndrome in comparison with 26 healthy controls. This may have implications for treatment

  3. Abnormal uterine bleeding in perimenopause.

    Science.gov (United States)

    Goldstein, S R; Lumsden, M A

    2017-10-01

    Abnormal uterine bleeding is one of the commonest presenting complaints encountered in a gynecologist's office or primary-care setting. The wider availability of diagnostic tools has allowed prompt diagnosis and treatment of an increasing number of menstrual disorders in an office setting. This White Paper reviews the advantages and disadvantages of transvaginal ultrasound, blind endometrial sampling and diagnostic hysteroscopy. Once a proper diagnosis has been established, appropriate therapy may be embarked upon. Fortunately, only a minority of such patients will have premalignant or malignant disease. When bleeding is sufficient to cause severe anemia or even hypovolemia, prompt intervention is called for. In most of the cases, however, the abnormal uterine bleeding will be disquieting to the patient and significantly affect her 'quality of life'. Sometimes, reassurance and expectant management will be sufficient in such patients. Overall, however, in cases of benign disease, some intervention will be required. The use of oral contraceptive pills especially those with a short hormone-free interval, the insertion of the levonorgestrel intrauterine system, the incorporation of newer medical therapies including antifibrinolytic drugs and selective progesterone receptor modulators and minimally invasive treatments have made outpatient therapy increasingly effective. For others, operative hysteroscopy and endometrial ablation are proven therapeutic tools to provide both long- and short-term relief of abnormal uterine bleeding, thus avoiding, or deferring, hysterectomy.

  4. Camptomelic dysplasia: A case report

    Directory of Open Access Journals (Sweden)

    Koš Radmila

    2007-01-01

    Full Text Available Campomelic/camptomelic dysplasia is a very rare, severe osteochondrodysplasia characterised by severe skeletal and nonskeletal malformations and lethal outcome mainly in neonatal period. Characteristic abnormality by which the syndrome got its name is short, bowed long bones of lower extremities, most often of femur, manifested by short and bowed legs. Skin dimpling on tibial anterior side is another prominent characteristic of this syndrome. Severe cases are inherited by autosomal dominant trait, by mutation Sox9 gene on chromosome 17, with lethal outcome in the first days of life. Less severe forms of the disease are due to balanced translocation t (13;17 with life span up to the third decade of life. A majority of karyotypic males present as phenotypic females. We report a case of a female neonate, without consanguinity between parents, with characteristic signs of camptomelic dysplasia with short birth length of 46 cm, macrocephaly (head circumference 39 cm, dolichocephaly, hydrocephalus, short trunk and legs. Narrow rib cage, bowed lower extremities, short hand and foot phalanges, nail hypoplasia were noticed. Anterior fontanelle was enlarged, high forehead, face small and flat, hypertelorism, low nasal bridge, micrognathia, low set ears, cleft palate, were found. Characteristic skin dimpling on anterior side of tibia was present on both legs. Bone X-ray studies presented the following changes: anterior bowing of shortened femurs, hip dislocation, cervical vertebrae, scapulas, eleven pairs of slender ribs. Hip luxation. Karyotype was normal for a female, 46 XX. Respiratory insufficiency was present since birth, exacerbated, and led to lethal outcome in the second day of life, as described in the majority of these patients. .

  5. Chromosome Structural Alteration an Unusual Abnormality Characterizing Human Neoplasia

    Directory of Open Access Journals (Sweden)

    Abolfazl Movafagh

    2016-04-01

    Full Text Available Background and Aim: Ring chromosomes are rare cytogenetic abnormalities that occur in less than 10% of hematopoietic malignancies. They are rare in blood disorder. The present review has focused on the ring chromosome associated with oncology malignancies. Materials and Methods: By reviewing the web-based search for all English scientific peer review articles published, was initiated using Medline/PubMed, Mitelman database (http://cgap.nci.nih.gov/Chromosomes/Mitelman, and other pertinent references on websites about ring chromosomes in Oncology. The software program as End Note was used to handle the proper references for instruction to author. Karyotype descriptions were cited according to ISCN.Conclusion: Ring chromosomes are rare chromosomal aberrations, almost many times are of de novo origin, presenting a different phenotype regarding the loss of genetic material. The karyotype represents the main analysis for detection of ring chromosomes, but other molecular technics are necessary for complete characterization. The information of this review article adds to the spectrum of both morphology and genetic rearrangements in the field of oncology malignancies.

  6. Value of gallbladder-preserving partial cholecystectomy in treatment of abnormal gallbladder morphology complicated by sand-like calculous cholecystitis: a reports of 18 cases

    Directory of Open Access Journals (Sweden)

    LIANG Fasheng

    2016-10-01

    Full Text Available Objective To investigate the value of laparoscopic gallbladder-preserving partial cholecystectomy in the treatment of abnormal gallbladder morphology complicated by sand-like calculous cholecystitis. Methods A total of 18 patients with abnormal gallbladder morphology complicated by sand-like calculous cholecystitis who underwent laparoscopic and choledochoscopic partial cholecystectomy in Dalian Friendship Hospital from July 2010 to January 2014 were enrolled. All the patients had abnormal gallbladder morphology manifested as folded gallbladder or adenomyosis, and the lesions were located in the distal end of the gallbladder. Before the surgery, gallbladder contraction test was performed for the diseased part and the normal part of the gallbladder to be preserved. During the surgery, choledochoscopy showed an unobstructed cystic duct and good elasticity in the gallbladder wall, and there was no marked chronic inflammation. After the diseased part of the gallbladder was removed, 4-0 absorbable suture was used for two-layer consecutive suture of the gallbladder. The t-test was used for comparison of continuous data between groups. Results All the patients underwent the surgery successfully. The mean time of operation was 98.0±9.0 minutes, and the mean time to first flatus was 22.8±2.5 hours. The patients were able to get out of the bed and drink water at 6 hours after surgery and to have meals at 24 hours after surgery. They fully recovered and were discharged at 5-7 days after surgery, and no patient experienced the complications such as bile leakage. The patients were followed up for 6-80 months; the patients′ preoperative clinical symptoms disappeared, and there was no recurrence of calculi. At 6-12 months after surgery, the patients experienced compensated cholecystectasis, and there was a significant increase in the mean volume of the gallbladder after surgery (30.29±4.23 cm3 vs 21.72±4.34 cm3, t=-13.00, P<0.001. There was a

  7. Fever of unknown origin and the value of gallium-67 and technetium-99/sup m/ for defining abnormality of the spleen: a case report

    International Nuclear Information System (INIS)

    Coopersmith, A.; Ritchey, A.K.; Zinkham, W.H.

    1975-01-01

    A three-year-old white female with acute promyelocytic leukemia developed persistent fever after successful induction-remission therapy; many large monilial abscesses were later found in the grossly enlarged spleen. Although the technetium/sup 99M/-sulfur colloid scan prior to splenectomy suggested only a slight abnormality of the spleen, the gallium-67 citrate scintigraph showed a marked increase in gallium accumulation. The disparate results of the scanning techniques utilized in this patient suggest that it may be necessary to use more than one type of radiopharmaceutical to define an enlarged spleen, as well as the pathological process responsible for its enlargement

  8. Echocardiographic abnormalities in hypertensive patients

    International Nuclear Information System (INIS)

    Rodulfo Garcia, Maikel; Tornes Perez, Victor Manuel; Castellanos Tardo, Juan Ramon

    2012-01-01

    A descriptive cross-sectional study was carried out in 120 hypertensive patients with a course of 5 or more years, who went to the emergency room of 'Saturnino Lora' Provincial Teaching Hospital from November 2010 to November 2011 in order to determine the presence or absence of echocardiographic abnormalities typical of hypertension. Of these, 78,3 % was affected, most of whom reported not to continue with regular previous medical treatment, and 21,7 % had not these abnormalities. Age group of 50-60 years, males and blacks prevailed in the case material. The most significant echocardiographic findings were left ventricular hypertrophy and heart failure with ejection fraction of left ventricle preserved

  9. Chromosomal Abnormalities in ADHD

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2002-07-01

    Full Text Available The prevalence of fragile X syndrome, velocardiofacial syndrome (VCFS, and other cytogenetic abnormalities among 100 children (64 boys with combined type ADHD and normal intelligence was assessed at the NIMH and Georgetown University Medical Center.

  10. "Jeopardy" in Abnormal Psychology.

    Science.gov (United States)

    Keutzer, Carolin S.

    1993-01-01

    Describes the use of the board game, Jeopardy, in a college level abnormal psychology course. Finds increased student interaction and improved application of information. Reports generally favorable student evaluation of the technique. (CFR)

  11. Chromosomal abnormalities and autism

    Directory of Open Access Journals (Sweden)

    Farida El-Baz

    2016-01-01

    Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques.

  12. Prevalence of chromosomal abnormalities in Sri Lankan women with primary amenorrhea.

    Science.gov (United States)

    Samarakoon, Lasitha; Sirisena, Nirmala D; Wettasinghe, Kalum T; Kariyawasam, Kariyawasam Warnakulathanthrige Jayani C; Jayasekara, Rohan W; Dissanayake, Vajira H W

    2013-05-01

    Chromosomal abnormalities are implicated in the etiology of primary amenorrhea. The underlying chromosomal aberrations are varied and regional differences have been reported. The objective of this study is to describe the prevalence of various types of chromosomal abnormalities in Sri Lankan women with primary amenorrhea. Medical records of all patients diagnosed with primary amenorrhea referred for cytogenetic analysis to two genetic centers in Sri Lanka from January 2005 to December 2011 were reviewed. Chromosome culture and karyotyping was performed on peripheral blood samples obtained from each patient. Data were analyzed using standard descriptive statistics. Altogether 338 patients with primary amenorrhea were karyotyped and mean age at testing was 20.5 years. Numerical and structural chromosomal abnormalities were noted in 115 (34.0%) patients which included 45,X Turner syndrome (10.7%), Turner syndrome variants (13.9%), XY females (6.5%), 45,X/46,XY (0.9%), 46,XX/46,XY (0.6%), 47,XXX (0.3%), 47,XX,+ mar (0.3%), 46,X,i(X)(p10) (0.3%), 46,XX with SRY gene translocation on X chromosome (0.3%) and 46,XX,inv(7)(p10;q11.2) (0.3%). Short stature, absent secondary sexual characteristics, neck webbing, cubitus valgus and broad chest with widely spaced nipples were commonly seen in patients with Turner syndrome and variant forms. Neck webbing and absent secondary sexual characteristics were significantly associated with classical Turner syndrome than variant forms. A considerable proportion of women with primary amenorrhea had chromosomal abnormalities. Mean age at testing was late suggesting delay in referral for karyotyping. Early referral for cytogenetic evaluation is recommended for the identification of underlying chromosomal aberrations in women with primary amenorrhea. © 2012 The Authors. Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology.

  13. Five-group cytogenetic risk classification, monosomal karyotype, and outcome after hematopoietic cell transplantation for MDS or acute leukemia evolving from MDS

    Science.gov (United States)

    Scott, Bart L.; Fang, Min; Shulman, Howard M.; Gyurkocza, Boglarka; Myerson, David; Pagel, John M.; Platzbecker, Uwe; Ramakrishnan, Aravind; Radich, Jerald P.; Sandmaier, Brenda M.; Sorror, Mohamed; Stirewalt, Derek L.; Wilson, Wendy A.; Storb, Rainer; Appelbaum, Frederick R.; Gooley, Ted

    2012-01-01

    Clonal cytogenetic abnormalities are a major risk factor for relapse after hematopoietic cell transplantation (HCT) for myelodysplastic syndrome (MDS). We determined the impact of the recently established 5-group cytogenetic classification of MDS on outcome after HCT. Results were compared with the impact of the International Prognostic Scoring System (IPSS) 3 cytogenetic risk groups, and the additional effect of a monosomal karyotype was assessed. The study included data on 1007 patients, 1-75 years old (median 45 years), transplanted from related (n = 547) or unrelated (n = 460) donors. Various conditioning regimens were used, and marrow, peripheral blood, or cord blood served as stem cell source. Both IPSS and 5-group cytogenetic risk classifications were significantly associated with post-HCT relapse and mortality, but the 5-group classification discriminated more clearly among the lowest- and highest-risk patients. A monosomal karyotype tended to further increase the rates of relapse and mortality, even after considering the IPSS or 5-group classifications. In addition, the pathologic disease category correlated with both relapse and mortality. Mortality was also impacted by patient age, donor type, conditioning regimen, platelet count, and etiology of MDS. Although mortality declined significantly in recent years, novel strategies are needed to overcome the barrier of high-risk cytogenetics. PMID:22767498

  14. Congenital abnormalities associated with hemivertebrae in relation to hemivertebrae location.

    Science.gov (United States)

    Bollini, Gerard; Launay, Franck; Docquier, Pierre-Louis; Viehweger, Elke; Jouve, Jean-Luc

    2010-01-01

    Numerous congenital abnormalities have been reported in association with hemivertebrae (HV). No data exist about their incidence depending on the location of the HV. From 1980 to 2003, 75 patients with 80 HV responsible for evolutive congenital scoliosis were managed by HV resection using a double approach and short anterior and posterior convex fusion. The associated abnormalities were evaluated with MRI, echocardiography and renal ultrasound. Associated genitourinary abnormalities were found in 24% of patients, cardiac abnormalities in 8% and intrathecal abnormalities in 15%. Medullar abnormalities were more frequent in case of vertebral malformations at lumbosacral level.

  15. New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome.

    Science.gov (United States)

    Miguel-Neto, Jamil; Carvalho, Annelise B; Marques-de-Faria, Antonia Paula; Guerra-Júnior, Gil; Maciel-Guerra, Andréa T

    2016-04-01

    Phenotypic variability of Turner syndrome (TS) challenges clinicians, and undiagnosed mosaicism may lead to conflicting results of karyotype-phenotype correlations. This study assessed the extent of phenotypic variability and investigated the presence of karyotype-phenotype correlations. The sample comprised 80 patients with ≥50 cells analyzed in karyotype. Twenty were 45,X/46,X,+mar; three groups of 20 patients were constructed by matching those girls with the nearest-aged patient with 45,X, 45,X/46,XX and 45,X/46,X,i(Xq) or 46,X,i(Xq) karyotype. Data were obtained on height z-score, dysmorphic features, echocardiogram and urinary system sonography. The number of dysmorphic features ranged from one to 16 and was not correlated to age at diagnosis or height. The groups did not differ in height, number of dysmorphic features, cardiovascular and urinary system anomalies and frequency of any specific feature, except for short fourth metacarpal. Wide phenotypical variability of TS may be objectively described and its clinical picture is not correlated to karyotype.

  16. Karyotype rearrangements in a wine yeast strain by rad52-dependent and rad52-independent mechanisms.

    Science.gov (United States)

    Carro, David; Bartra, Enric; Piña, Benjamin

    2003-04-01

    Yeast strains isolated from the wild may undergo karyotype changes during vegetative growth, a characteristic that compromises their utility in genetic improvement projects for industrial purposes. Karyotype instability is a dominant trait, segregating among meiotic derivatives as if it depended upon only a few genetic elements. We show that disrupting the RAD52 gene in a hypervariable strain partially stabilizes its karyotype. Specifically, RAD52 disruption eliminated recombination at telomeric and subtelomeric sequences, had no influence on ribosomal DNA rearrangement rates, and reduced to 30% the rate of changes in chromosomal size. Thus, there are at least three mechanisms related to karyotype instability in wild yeast strains, two of them not requiring RAD52-mediated homologous recombination. When utilized for a standard sparkling-wine second fermentation, Deltarad52 strains retained the enological properties of the parental strain, specifically its vigorous fermentation capability. These data increase our understanding of the mechanisms of karyotype instability in yeast strains isolated from the wild and illustrate the feasibility and limitations of genetic remediation to increase the suitability of natural strains for industrial processes.

  17. Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature.

    Science.gov (United States)

    Fiaschi, Pietro; Severino, Mariasavina; Ravegnani, Giuseppe Marcello; Piatelli, Gianluca; Consales, Alessandro; Accogli, Andrea; Capra, Valeria; Cama, Armando; Pavanello, Marco

    2016-06-01

    Spontaneous or idiopathic intramedullary bleeding is a very rare event in pediatric patients. This diagnosis requires an extended clinical, laboratory, and radiologic work-up to rule out all potential causes of hematomyelia. However, children may present with hematomyelia or spinal cord injury without radiographic abnormality even after a minor trauma. A 15-month-old girl presented with a 24-hour history of progressive neurologic deficits. A trivial trauma had occurred a few days before the clinical onset. Head computed tomography scan and craniospinal magnetic resonance imaging revealed an isolated hemorrhagic central medullary lesion extending from the obex to C3 level. No underlying causes of intramedullary bleeding were identified. In the absence of obvious vascular abnormalities, the patient underwent an urgent occipitocervical decompression with hematoma evacuation. Postoperatively, the patient's motor symptoms rapidly resolved, and she was discharged with cervical collar immobilization. We discuss the differential diagnosis of intramedullary bleeding in children, focusing on the diagnostic protocol and therapeutic options in this age group. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. Abnormal sound detection device

    International Nuclear Information System (INIS)

    Yamada, Izumi; Matsui, Yuji.

    1995-01-01

    Only components synchronized with rotation of pumps are sampled from detected acoustic sounds, to judge the presence or absence of abnormality based on the magnitude of the synchronized components. A synchronized component sampling means can remove resonance sounds and other acoustic sounds generated at a synchronously with the rotation based on the knowledge that generated acoustic components in a normal state are a sort of resonance sounds and are not precisely synchronized with the number of rotation. On the other hand, abnormal sounds of a rotating body are often caused by compulsory force accompanying the rotation as a generation source, and the abnormal sounds can be detected by extracting only the rotation-synchronized components. Since components of normal acoustic sounds generated at present are discriminated from the detected sounds, reduction of the abnormal sounds due to a signal processing can be avoided and, as a result, abnormal sound detection sensitivity can be improved. Further, since it is adapted to discriminate the occurrence of the abnormal sound from the actually detected sounds, the other frequency components which are forecast but not generated actually are not removed, so that it is further effective for the improvement of detection sensitivity. (N.H.)

  19. GnRH-dependent precocious puberty manifested at the age of 14 months in a girl with 47,XXX karyotype.

    Science.gov (United States)

    Skordis, Nicos; Ferrari, Eleana; Antoniadou, Aria; Phylactou, Leonidas A; Fanis, Pavlos; Neocleous, Vassos

    2017-07-01

    This case report describes a 47,XXX girl who presented very early, at the age of 14 months, with signs of sexual precocity (breast and pubic hair development, menarche) and was finally diagnosed with GnRH dependent precocious puberty with no evidence of underlying central nervous system pathology. Molecular testing did not identify any genetic defect in any of the genes tested (KISS1, KISS1R, DLK1 and the intronless MKRN3). Though previous studies have shown a link between karyotype 47,XXX and precocious puberty, this is the youngest patient reported so far. Treatment with GnRH analog was commenced and proved to be effective, indicating a successful suppression of the hypothalamic-pituitary-ovarian axis.

  20. 408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

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    Georgette Beatriz De Paula

    2016-01-01

    Full Text Available Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center. Results. There were 408 cases; 250 (61.3% were 46,XY and 124 (30.4% 46,XX and 34 (8.3% had sex chromosomes abnormalities. 189 (46.3% had 46,XY testicular DSD, 105 (25.7% 46,XX ovarian DSD, 95 (23.3% disorders of gonadal development (DGD, and 19 (4.7% complex malformations. The main etiology of 46,XX ovarian DSD was salt-wasting 21-hydroxylase deficiency. In 46,XX and 46,XY groups, other malformations were observed. In the DGD group, 46,XY partial gonadal dysgenesis, mixed gonadal dysgenesis, and ovotesticular DSD were more frequent. Low birth weight was observed in 42 cases of idiopathic 46,XY testicular DSD. The average age at diagnosis was 31.7 months. The final sex of rearing was male in 238 cases and female in 170. Only 6.6% (27 cases needed sex reassignment. Conclusions. In this large DSD sample with ambiguous genitalia, the 46,XY karyotype was the most frequent; in turn, congenital adrenal hyperplasia was the most frequent etiology. Malformations associated with DSD were common in all groups and low birth weight was associated with idiopathic 46,XY testicular DSD.

  1. Prevalence of chromosomal abnormalities and Y chromosome microdeletion among men with severe semen abnormalities and its correlation with successful sperm retrieval

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    Mariano Mascarenhas

    2016-01-01

    Full Text Available AIM: To estimate the prevalence of chromosomal abnormalities and Y chromosome microdeletion among men with azoospermia and severe oligozoospermia and its correlation with successful surgical sperm retrieval. SETTING AND DESIGN: A prospective study in a tertiary level infertility unit. MATERIALS AND METHODS: In a prospective observation study, men with azoospermia and severe oligozoospermia (concentration <5 million/ml attending the infertility center underwent genetic screening. Peripheral blood karyotype was done by Giemsa banding. Y chromosome microdeletion study was performed by a multiplex polymerase chain reaction. RESULTS: The study group consisted of 220 men, 133 of whom had azoospermia and 87 had severe oligozoospermia. Overall, 21/220 (9.5% men had chromosomal abnormalities and 13/220 (5.9% men had Y chromosome microdeletions. Chromosomal abnormalities were seen in 14.3% (19/133 of azoospermic men and Y chromosome microdeletions in 8.3% (11/133. Of the 87 men with severe oligozoospermia, chromosomal abnormalities and Y chromosome microdeletions were each seen in 2.3% (2/87. Testicular sperm aspiration was done in 13 men and was successful in only one, who had a deletion of azoospermia factor c. CONCLUSIONS: Our study found a fairly high prevalence of genetic abnormality in men with severe semen abnormalities and a correlation of genetic abnormalities with surgical sperm retrieval outcomes. These findings support the need for genetic screening of these men prior to embarking on surgical sperm retrieval and assisted reproductive technology intracytoplasmic sperm injection.

  2. [Distribution of abnormal cell clone with deletion of chromosome 20q in marrow cell lineages and apoptosis cells in myelodysplastic syndrome].

    Science.gov (United States)

    Qin, Ling; Wang, Chun; Qin, You-Wen; Xie, Kuang-Cheng; Yan, Shi-Ke; Gao, Yan-Rong; Wang, Xiao-Rui; Zhao, Chu-Xian

    2008-06-01

    This study was aimed to investigate the distribution of abnormal clone in marrow cell lineages and apoptosis cells in myelodysplastic syndrome (MDS) with deletion of chromosome 20q. Monoclonal antibodies recognizing myeloid precursors (CD15), erythroid precursors (GPA), T cells (CD3(+)CD56(-)CD16(-)), B cells (CD19), NK cells (CD3(-)CD56(+)CD16(+)) were used to sort bone marrow cells in a MDS patient with del (20q) by fluorescence activated cell sorting (FACS). Annexin V-FITC and PI were used to sort bone marrow Annexin V(+)PI(-) and Annexin V(-)PI(-) cells by FACS. The sorted positive cells were detected by interphase dual-color fluorescence in situ hybridization (D-FISH) using a LSI D20S108 probe (Spectrum Orange) and a Telvysion TM 20p probe (Spectrum Green). FACS and FISH analysis were also performed on the samples from 4 cases with normal karyotype. The results showed that the proportions of MDS clone in the myeloid and erythroid precursors were 70.50% and 93.33% respectively, in the RAEB-1 patient with del (20q) and were obviously higher than that in control group (5.39% and 6.17%). The proportions of abnormal clone in T, B and NK cells were 3.23%, 4.32% and 5.77% respectively and were less than that in control group (5.76%, 4.85%, 6.36%). The percentage of apoptotic cells in the bone marrow nucleated cells was 16.09%. The proportions of MDS clone in Annexin V(+)PI(-) and Annexin V(-)PI(-) cells were 32.48% and 70.11%, respectively. It is concluded that most myeloid and erythroid precursors are originated from the abnormal clone in MDS with del (20q). A little part of apoptotic cells are derived from the abnormal clone.

  3. Comparative Karyotype Analysis Of Slugs Of The Genus Arion (Gastropoda, Pulmonata, Arionidae

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    Harbar A. V.

    2015-08-01

    Full Text Available Karyotypes of four species of the genus Arion were investigated, namely, A. distinctus (2n = 48m + 8sm = 56; FN = 112, A. lusitanicus s. l. (2n = 4 4m + 6 sm + 2st = 52; FN = 104, A. fuscus (n = 26, 2n = 52, FN = 104 and A. fasciatus (n = 29, 2n = 58, FN = 116. The karyotype of A. lusitanicus s. l. was identical to those of A. fuscus, A. ater and A. rufus. The karyotype of A. fasciatus in the haploid number of chromosomes is identical to another close species — A. circumscriptus (n = 29 from the United Kingdom. The identical number of chromosomes in species of the subgenus Arion (A. lusitanicus s. l., A. ater, A. rufus and species of the subgenus Mesarion (A. fuscus (n = 26 may be a reason for their merging.

  4. Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome Lisencefalia, genitália ambígua e epilepsia refratária: relato de caso da síndrome XLAG

    Directory of Open Access Journals (Sweden)

    Mônica Jaques Spinosa

    2006-12-01

    Full Text Available INTRODUCTION: X-linked lissencephaly with ambiguous genitalia (XLAG is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX gene (Xp22.13. Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT: Second child born to healthy nonconsanguineous parents, presented with seizures within the first hour of life that remained refractory to phenobarbital, phenytoin and midazolam. Examination identified microcephaly, axial hypotonia, pyramidal signs and ambiguous genitalia. EEG showed disorganized background activity and seizures starting at the right midtemporal, central and occipital regions. MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum. Karyotype showed a 46,XY genotype. Additional findings were hypercalciuria, vesicoureteral reflux, patent ductus arteriosus and chronic diarrhea.INTRODUÇÃO: Lisencefalia com genitália ambígua ligada ao X (XLAG é doença genética recentemente descrita, causada por mutação no gene aristaless-related homeobox (ARX (Xp22.13. Os pacientes apresentam lisencefalia, agenesia de corpo caloso, epilepsia refratária com início no período neonatal, microcefalia adquirida e genótipo masculino com genitália ambígua. RELATO DE CASO: Segundo filho de pais não-consangüíneos, apresentou crises na primeira hora de vida que permaneceram refratárias a fenobarbital, fenitoína e midazolam. Apresentava microcefalia, hipotonia axial, sinais de liberação piramidal e genitália ambígua. EEG demonstrou atividade de base desorganizada, crises convulsivas com início nas regiões temporal-média, central e occipital direitas. RNM demonstrou paquigiria difusa, moderado espessamento do córtex, ventrículos aumentados, agenesia de corpo caloso e septo pel

  5. Non-invasive prenatal cell-free fetal DNA testing for down syndrome and other chromosomal abnormalities

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    Darija Strah

    2015-12-01

    Full Text Available Background: Chorionic villus sampling and amniocentesis as definitive diagnostic procedures represent a gold standard for prenatal diagnosis of chromosomal abnormalities. The methods are invasive and lead to a miscarriage and fetal loss in approximately 0.5–1 %. Non-invasive prenatal DNA testing (NIPT is based on the analysis of cell-free fetal DNA from maternal blood. It represents a highly accurate screening test for detecting the most common fetal chromosomal abnormalities. In our study we present the results of NIPT testing in the Diagnostic Center Strah, Slovenia, over the last 3 years.Methods: In our study, 123 pregnant women from 11th to 18th week of pregnancy were included. All of them had First trimester assessment of risk for trisomy 21, done before NIPT testing.Results: 5 of total 6 high-risk NIPT cases (including 3 cases of Down syndrome and 2 cases of Klinefelter’s syndrome were confirmed by fetal karyotyping. One case–Edwards syndrome was false positive. Patau syndrome, triple X syndrome or Turner syndrome were not observed in any of the cases. Furthermore, there were no false negative cases reported. In general, NIPT testing had 100 % sensitivity (95 % confidence interval: 46.29 %–100.00 % and 98.95 % specificity (95 % confidence interval: 93.44 %–99.95 %. In determining Down syndrome alone, specificity (95 % confidence interval: 95.25 %- 100.00 % and sensitivity (95 % confidence interval: 31.00 %–100.00 % turned out to be 100 %. In 2015, the average turnaround time for analysis was 8.3 days from the day when the sample was taken. Repeated blood sampling was required in 2 cases (redraw rate = 1.6 %.Conclusions: Our results confirm that NIPT represents a fast, safe and highly accurate advanced screening test for most common chromosomal abnormalities. In current clinical practice, NIPT would significantly decrease the number of unnecessary invasive procedures and the rate of fetal

  6. Karyotype analysis and ribosomal gene localization of spotted knifejaw Oplegnathus punctatus.

    Science.gov (United States)

    Li, P Z; Cao, D D; Liu, X B; Wang, Y J; Yu, H Y; Li, X J; Zhang, Q Q; Wang, X B

    2016-12-23

    The spotted knifejaw, Oplegnathus punctatus, is an important aquaculture fish species in China. To better understand the chromosomal microstructure and the karyotypic origin of this species, cytogenetic analysis was performed using Giemsa staining to identify metaphase chromosomes, C-banding to detect C-positive heterochromatin, silver staining to identify the nucleolus organizer regions (Ag-NORs), and fluorescence in situ hybridization (FISH) for physical mapping of the major (18S rDNA) and minor (5S rDNA) ribosomal genes. The species showed a karyotype of 2n = 48 for females, composed of 2 submetacentric and 46 telocentric chromosomes, with a fundamental number (FN) = 50, while the karyotype of males was 2n = 47, composed of 1 exclusive large metacentric, 2 submetacentric, and 44 telocentric chromosomes, with FN = 50. These karyotype results suggest that O. punctatus might have an X 1 X 1 X 2 X 2 /X 1 X 2 Y multiple sex chromosome system. C-positive heterochromatin was distributed in the centromeres of all chromosomal pairs and in the terminal portions of some chromosomes. A single pair of Ag-positive NORs was found to be localized at the terminal regions of the short arms of the subtelocentric chromosome pair, which was supported by FISH of 18S rDNA. After FISH, 5S rDNA were located on the interstitial regions of the smallest telocentric chromosome pair. This study was the first to identify the karyotype of this species and will facilitate further research on karyotype evolution in the order Perciformes.

  7. Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma

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    Wang Shengyue

    2011-07-01

    Full Text Available Abstract Background Hepatocellular carcinoma (HCC is a worldwide malignant liver tumor with high incidence in China. Subchromosomal amplifications and deletions accounted for major genomic alterations occurred in HCC. Digital karyotyping was an effective method for analyzing genome-wide chromosomal aberrations at high resolution. Methods A digital karyotyping library of HCC was constructed and 454 Genome Sequencer FLX System (Roche was applied in large scale sequencing of the library. Digital Karyotyping Data Viewer software was used to analyze genomic amplifications and deletions. Genomic amplifications of genes detected by digital karyotyping were examined by real-time quantitative PCR. The mRNA expression level of these genes in tumorous and paired nontumorous tissues was also detected by real-time quantitative RT-PCR. Results A total of 821,252 genomic tags were obtained from the digital karyotyping library of HCC, with 529,162 tags (64% mapped to unique loci of human genome. Multiple subchromosomal amplifications and deletions were detected through analyzing the digital karyotyping data, among which the amplification of 7q21.3 drew our special attention. Validation of genes harbored within amplicons at 7q21.3 locus revealed that genomic amplification of SGCE, PEG10, DYNC1I1 and SLC25A13 occurred in 11 (21%, 11 (21%, 11 (21% and 23 (44% of the 52 HCC samples respectively. Furthermore, the mRNA expression level of SGCE, PEG10 and DYNC1I1 were significantly up-regulated in tumorous liver tissues compared with corresponding nontumorous counterparts. Conclusions Our results indicated that subchromosomal region of 7q21.3 was amplified in HCC, and SGCE, PEG10 and DYNC1I1 were probable protooncogenes located within the 7q21.3 locus.

  8. Cytogenetic profile in 1,921 cases of trisomy 21 syndrome.

    Science.gov (United States)

    Flores-Ramírez, Francisco; Palacios-Guerrero, Claudia; García-Delgado, Constanza; Morales-Jiménez, Ariadna Berenice; Arias-Villegas, Christian Martín; Cervantes, Alicia; Morán-Barroso, Verónica Fabiola

    2015-08-01

    Trisomy 21 is the most frequent genetic cause of intellectual disability. It is caused by different cytogenetic aberrations: free trisomy, Robertsonian translocations, mosaicism, duplication of the critical region and other structural rearrangements of chromosome 21. The aim of the study was to identify in Mexican trisomy 21 patients who attended Hospital Infantil de México Federico Gómez from 1992-2011 the type and frequency of the cytogenetic aberration and to evaluate the effect of maternal age. A retrospective analysis of epidemiological data and karyotype reports were carried out; type and frequency of the cytogenetic variants were determined. We identified 2,018 cases referred with a clinical diagnosis of trisomy 21. In 1,921 analyses (95.2%) a cytogenetic variant of trisomy 21 was identified: free trisomy 21 in 1,787 cases (93.02%), four cases (0.21%) had an additional non-contributory aberration; Robertsonian translocations in 92 cases (4.79%); mosaicism in 31 cases (1.61%) and seven cases (0.36%) had other chromosomal abnormalities, five (0.26%) had other contributory structural rearrangements and two corresponded to double aneuploidies (0.10%). Gender distribution was 1,048 (54.56%) males and 873 (45.44%) females. A maternal age effect was observed in patients with free trisomy 21 with mothers >36 years of age. The present work reports the experience of a Mexican referral center regarding the karyotype diagnosis of patients with trisomy 21 and is one of the most extensive studies published so far. Percentages of the cytogenetic abnormalities present in our population reflect the ones previously reported for these cytogenetic alterations worldwide. Copyright © 2015 IMSS. Published by Elsevier Inc. All rights reserved.

  9. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

    DEFF Research Database (Denmark)

    Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne

    2010-01-01

    Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

  10. Description of a new species and the karyotype of the cavernicolous millipede Pseudonannolene Silvestri and the karyotype of Pseudonannolene strinatti Mauriès (Diplopoda, Pseudonannolenida, Pseudonannolenidae

    Directory of Open Access Journals (Sweden)

    Carmem Silvia Fontanetti

    1996-01-01

    Full Text Available Pseudonannolene tocaiensis, sp.n. is described from Brazil, São Paulo, Itirapina. The karyotypes of P. tocaiensis, sp.n. and P. strinatti Mauriès, 1974 are also presented, both species are found in cave environments. P. tocaiensis has 2n=20, XY and P. strinatti, 2n=16; it was not possible to observe the sex determination mechanism in the latter.

  11. Next generation sequencing identifies abnormal Y chromosome and candidate causal variants in premature ovarian failure patients.

    Science.gov (United States)

    Lee, Yujung; Kim, Changshin; Park, YoungJoon; Pyun, Jung-A; Kwack, KyuBum

    2016-12-01

    Premature ovarian failure (POF) is characterized by heterogeneous genetic causes such as chromosomal abnormalities and variants in causal genes. Recently, development of techniques made next generation sequencing (NGS) possible to detect genome wide variants including chromosomal abnormalities. Among 37 Korean POF patients, XY karyotype with distal part deletions of Y chromosome, Yp11.32-31 and Yp12 end part, was observed in two patients through NGS. Six deleterious variants in POF genes were also detected which might explain the pathogenesis of POF with abnormalities in the sex chromosomes. Additionally, the two POF patients had no mutation in SRY but three non-synonymous variants were detected in genes regarding sex reversal. These findings suggest candidate causes of POF and sex reversal and show the propriety of NGS to approach the heterogeneous pathogenesis of POF. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

    DEFF Research Database (Denmark)

    Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne

    2010-01-01

    Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function.......Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

  13. X-ray effects on karyotype of Drosophila pseudo obscure. Pilot experience

    International Nuclear Information System (INIS)

    Salceda, V. M.

    2009-10-01

    Four groups of 100 males of Drosophila pseudo obscure carriers of genetic sequence Tree Line were treated with X-rays, through the use of a X-ray equipment Phillips MCN321; with absorbed individual doses of 28.2 Gy, 37.6 Gy, 47.6 Gy and 56.4 Gy, once irradiated these were crossed individually with two or three virgin females of the same constitution and the descendant emergency was took a larva of each crossing in order to detect the radiation effect on karyotype Tree Line of these organisms, chromosomal aberrations fundamentally, as well as on masculine sterility. Our observations gave as result for smaller dose, in a total of 61 analyzed larva, the obtaining of seven translocations equivalent to 11.5% as well as an inversion of 1.6%; with the following dose (58 analyzed larva) were obtained four translocations equal to 6.9%, two corresponding inversions to 3.4%, a mosaic and a deletion equivalent to 1.7%; with the dose of 47.6 Gy four translocations were induced 6.8% and deletion corresponding to 1.1%, again two respective inversions to 3.4% and a mosaic 1.7% in 59 analyzed larvas, meantime with the dose of 56.4 Gy appeared two translocations only equal to 3.7% in a sample of 54 individuals. The effect about masculine sterility was equal that the witness of 12% and for two following doses and finally of 41 and 46% respectively for the remaining doses. Comparisons with another authors gave similar values in the total cases. In accordance with our main objective, it is suggested to increase the sample size and to repeat the experiments using different genetic sequences as well as the possibility to use different radiation sources like gamma radiation and this way to utilize this system like a biological dosemeter. (Author)

  14. Incidence of fetal chromosome abnormalities in insulin dependent diabetic women

    DEFF Research Database (Denmark)

    Henriques, C U; Damm, P; Tabor, A

    1991-01-01

    In order to screen for fetal neural tube defects and chromosome abnormalities, amniocentesis was carried out in 334 women with insulin-dependent diabetes mellitus (IDDM) between 1979 and 1987. Two cases (0.6%; 95% confidence limits 0.1-2.2%) of fetal chromosome abnormality were found: one case...... of Klinefelter's syndrome and one case of de novo translocation. This is comparable to the overall incidence of chromosome abnormality found at birth and is also comparable to the incidence of fetal chromosome abnormality (1.0%) found by amniocentesis at our Department in a group of 2,264 young non...

  15. CT of pleural abnormalities

    International Nuclear Information System (INIS)

    Webb, W.R.

    1995-01-01

    Briefly discussed were CT diagnosis of pleural thickening, CT technique for examining the pleura or pleuro-pulmonary disease, diagnosis of pleural collections, diagnosis of pleural fluid abnormalities in patients with pneumonia, pleural neoplasms, malignant (diffuse) mesothelioma, metastases, local fibrous tumor of the pleura (benign mesothelioma) (21 refs.)

  16. Chromosomal abnormalities and autism

    African Journals Online (AJOL)

    Farida El-Baz

    2015-06-19

    Jun 19, 2015 ... ORIGINAL ARTICLE. Chromosomal abnormalities and autism. Farida El-Baz a. , Mohamed Saad Zaghloul a. , Ezzat El Sobky a. ,. Reham M Elhossiny a,. *, Heba Salah a. , Neveen Ezy Abdelaziz b a Pediatric Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt b Children with Special ...

  17. The prognostic impact of human leukocyte antigen (HLA) class I antigen abnormalities in salivary gland cancer. A clinicopathological study of 288 cases.

    Science.gov (United States)

    Müller, Maximilian; Agaimy, Abbas; Zenk, Johannes; Ettl, Tobias; Iro, Heinrich; Hartmann, Arndt; Seliger, Barbara; Schwarz, Stephan

    2013-05-01

    To study abnormalities of proteins of the major histocompatibility complex class I in a series of 288 salivary gland carcinomas, and to correlate findings with patients' overall survival (OS). Protein expression of human leukocyte antigen (HLA)-A, heavy chain (HC)-10, β2 -microglobulin, low molecular weight polypeptides (LMP) 2 and 7, transporters associated with antigen processing (TAP) 1 and 2, calnexin, calreticulin, endoplasmic reticulum (ER) p57 and tapasin was evaluated by immunohistochemistry and semiquantitatively analyzed. As compared with normal salivary gland tissue, HLA-A, LMP7, TAP2 and HLA class I were significantly down-regulated in salivary gland carcinomas, whereas β2 -microglobulin, calnexin, LMP2, and TAP1 were upregulated. Expression of calreticulin, ERp57 and tapasin was unaltered. In univariate Kaplan-Meier analyses, low expression of LMP7 (P = 0.005) and high expression of β2 -microglobulin (P = 0.028), HLA-A (P < 0.001), TAP1 (P = 0.01), and tapasin (P < 0.001) were significantly associated with shorter OS. In multivariate analysis incorporating tumour stage, nodal/distant metastasis, and grade, HLA-A (P = 0.014), LMP7 (P = 0.033), and tapasin (P = 0.024), as well as distant metastasis (P = 0.012) and high tumour grade (P < 0.001), remained statistically significant. The prognostic influence of up-regulated HLA-A and tapasin and down-regulated LMP7 may provide a rationale for targeting these specific components of the antigen processing and presentation pathway in salivary gland carcinomas. © 2012 Blackwell Publishing Ltd.

  18. Karyotype variability in neotropical catfishes of the family Pimelodidae (Teleostei: Siluriformes

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    Américo Moraes Neto

    Full Text Available Karyotypic data are presented for four species of fish belonging to the Pimelodidae family. These species show a conserved diploid number, 2n = 56 chromosomes, with different karyotypic formulae. The analyzed species showed little amount of heterochromatin located preferentially in the centromeric and telomeric regions of some chromosomes. The nucleolus organizer regions activity (Ag-NORs and the chromosomal location of ribosomal genes by fluorescent in situ hybridization (FISH, with 18S and 5S probes, showing only one chromosome pair marked bearer of ribosomal genes, the only exception was Pimelodus britskii that presented multiple NORs and syntenic location of the 18S and 5S probes. Non-Robertsonian events, as pericentric inversion and NORs duplication are requested to explain the karyotype diversification in Pseudoplatystoma from the rio Paraguay (MS, Pimelodus from the rio Iguaçu (PR, Sorubim from the rio Paraguay (MS and Steindachneridion from the rio Paraíba do Sul (SP. The obtained data for the karyotype macrostructure of these species corroborates a conserved pattern observed in Pimelodidae. On the other hand, interspecific variations detected by molecular cytogenetics markers made possible cytotaxonomic inferences and differentiation of the species here analyzed.

  19. Reference karyotype and cytomolecular map for loblolly pine (Pinus taeda L.)

    Science.gov (United States)

    M. Nurul Islam-faridi; C. Dana Nelson; Thomas L. Kubisiak

    2007-01-01

    A reference karyotype is presented for loblolly pine (Pinus taeda L., subgenus Pinus , section Pinus, subsection Australes), based on fluorescent in situ hybridization (FISH), using 18s-28s rDNA, 5s rDNA, and Arabidopsis-type telomere repeat sequence (A-type TRS). Well...

  20. First Description of the Karyotype and Sex Chromosomes in the Komodo Dragon (Varanus komodoensis).

    Science.gov (United States)

    Johnson Pokorná, Martina; Altmanová, Marie; Rovatsos, Michail; Velenský, Petr; Vodička, Roman; Rehák, Ivan; Kratochvíl, Lukáš

    2016-01-01

    The Komodo dragon (Varanus komodoensis) is the largest lizard in the world. Surprisingly, it has not yet been cytogenetically examined. Here, we present the very first description of its karyotype and sex chromosomes. The karyotype consists of 2n = 40 chromosomes, 16 macrochromosomes and 24 microchromosomes. Although the chromosome number is constant for all species of monitor lizards (family Varanidae) with the currently reported karyotype, variability in the morphology of the macrochromosomes has been previously documented within the group. We uncovered highly differentiated ZZ/ZW sex microchromosomes with a heterochromatic W chromosome in the Komodo dragon. Sex chromosomes have so far only been described in a few species of varanids including V. varius, the sister species to Komodo dragon, whose W chromosome is notably larger than that of the Komodo dragon. Accumulations of several microsatellite sequences in the W chromosome have recently been detected in 3 species of monitor lizards; however, these accumulations are absent from the W chromosome of the Komodo dragon. In conclusion, although varanids are rather conservative in karyotypes, their W chromosomes exhibit substantial variability at the sequence level, adding further evidence that degenerated sex chromosomes may represent the most dynamic genome part. © 2016 S. Karger AG, Basel.

  1. Comparative Chromosome Map and Heterochromatin Features of the Gray Whale Karyotype (Cetacea).

    Science.gov (United States)

    Kulemzina, Anastasia I; Proskuryakova, Anastasia A; Beklemisheva, Violetta R; Lemskaya, Natalia A; Perelman, Polina L; Graphodatsky, Alexander S

    2016-01-01

    Cetacean karyotypes possess exceptionally stable diploid numbers and highly conserved chromosomes. To date, only toothed whales (Odontoceti) have been analyzed by comparative chromosome painting. Here, we studied the karyotype of a representative of baleen whales, the gray whale (Eschrichtius robustus, Mysticeti), by Zoo-FISH with dromedary camel and human chromosome-specific probes. We confirmed a high degree of karyotype conservation and found an identical order of syntenic segments in both branches of cetaceans. Yet, whale chromosomes harbor variable heterochromatic regions constituting up to a third of the genome due to the presence of several types of repeats. To investigate the cause of this variability, several classes of repeated DNA sequences were mapped onto chromosomes of whale species from both Mysticeti and Odontoceti. We uncovered extensive intrapopulation variability in the size of heterochromatic blocks present in homologous chromosomes among 3 individuals of the gray whale by 2-step differential chromosome staining. We show that some of the heteromorphisms observed in the gray whale karyotype are due to distinct amplification of a complex of common cetacean repeat and heavy satellite repeat on homologous autosomes. Furthermore, we demonstrate localization of the telomeric repeat in the heterochromatin of both gray and pilot whale (Globicephala melas, Odontoceti). Heterochromatic blocks in the pilot whale represent a composite of telomeric and common repeats, while heavy satellite repeat is lacking in the toothed whale consistent with previous studies. © 2016 S. Karger AG, Basel.

  2. Karyotype variation is indicative of subgenomic and ecotypic differentiation in switchgrass

    Science.gov (United States)

    A cytogenetic study was conducted on a dihaploid individual (2n'='2X'='18) of switchgrass to establish a chromosome karyotype. Size differences, condensation patterns, and arm-length ratios were used as identifying features and fluorescence in-situ hybridization (FISH) assigned 5S and 45S rDNA loci...

  3. Karyotype of Persian Chub, Petroleuciscus persidis (Coad, 1981) (Actinopterygii: Cyprinidae) from Southern Iran

    OpenAIRE

    ESMAEILI, H. R.; PIRAVAR, Z.

    2014-01-01

    The diploid chromosome number of Persian chub, Petroleuciscus persidis (Coad, 1981), was 2n = 50, comprising 29 metacentric, 18 submetacentric, and 3 subtelocentric chromosomes and the number of arms was 97. A detailed karyotype of this endemic cyprinid fish of southern Iran was established for the first time in this study.

  4. Karyotype Analysis in Wild Diploid, Tetraploid, and Hexaploid Strawberries, Fragaria (Rosaceae)

    Science.gov (United States)

    The Strawberry, genus Fragaria (Rosaceae) has a basic chromosome count of x = 7, and is comprised of 20 wild species having an euploid series from diploid (2n = 2x = 14) through decaploid (2n = 10x = 70). Few karyotypes of species in this genus have been reported. The objective of this research was ...

  5. Karyotype analysis of three Solanum plants using combined PI-DAPI ...

    African Journals Online (AJOL)

    ajl yemi

    2011-12-19

    Dec 19, 2011 ... OLYMPUS epifluorescence microscope, and their images were captured with a CoolSNAP-CCD video camera using Meta Imaging. Series software. In this study, Adobe Photoshop software was used to take photos of the chromosomes, and karyotype analysis was studied by Li and. Chen (1985) methods.

  6. Karyotype Plasticity in Crickets: Numerical, Morphological, and Nucleolar Organizer Region Distribution Pattern of Anurogryllus sp.

    Science.gov (United States)

    Cristina Schneider, Marielle; Ariza Zacaro, Adilson; Ferreira, Amilton; Maria Cella, Doralice

    2010-01-01

    Within the Orthopteran species, those of the suborder Ensifera have been rarely studied from the cytogenetic point of view, mainly due to the difficulties for taxonomic identification of its species. The Gryllidae is the second largest family of this suborder and possesses some genera, such as Anurogryllus, that occur only on the American continents. The aim of this work was to determine the karyotype characteristics, the meiotic chromosome behaviour, and the nucleolar organizer region (NOR) pattern of Anurogryllus sp (Orthoptera: Gryllidae). In the analyzed sample, high levels of numerical, morphological, and NORs polymorphisms were detected. Within five distinct karyotypes that were found, the basic karyotype of Anurogryllus sp. showed 2n(♂) = 22 + X0 with acrocentric autosomes and a metacentric X sex chromosome; furthermore, a conspicuous secondary constriction related to the NOR was present along the entire short arm on pair 5. The other four types of karyotypes arose from centric fusions between elements of pairs 1/3, 2/6, 4/7 and a NOR partial translocation from pair 5 onto the long arm terminal region of one element of the fused pair 2/6. Such intraspecific variability and the consequences of high levels of polymorphism are discussed, leading to conjectures about the mechanisms that led to these chromosome rearrangements. PMID:20673072

  7. Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.

    Science.gov (United States)

    Wallis, C E; Beighton, P H

    1989-01-01

    A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene. Images PMID:2732995

  8. Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.

    OpenAIRE

    Wallis, C E; Beighton, P H

    1989-01-01

    A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene.

  9. Karyotype of asparagus by physical mapping of 45S and 5S rDNA ...

    Indian Academy of Sciences (India)

    Garden asparagus (Asparagus officinalis L.) is an econom- ically important plant with 2n = 2x = 20 chromosomes and a haploid genome size of 1323 Mb (Bennett and Leitch. 2003). The karyotype of asparagus consists of five long. (L), one medium (M) and four small (S) chromosomes. (Löptien 1976). Plants of this ...

  10. Double trisomy with 48, XXX+21 karyotype in a Down's syndrome ...

    Indian Academy of Sciences (India)

    An 11-day-old female child, the third in birth order of a non- consanguineous couple, was found to have a double trisomy. (48, XXX+21) upon karyotyping. The proband has the typi- cal Down's syndrome phenotype and the same was attributed to trisomy-21. The occurrence of double aneuploidy is a relatively.

  11. Rates of karyotypic evolution in Estrildid finches differ between island and continental clades.

    Science.gov (United States)

    Hooper, Daniel M; Price, Trevor D

    2015-04-01

    Reasons why chromosomal rearrangements spread to fixation and frequently distinguish related taxa remain poorly understood. We used cytological descriptions of karyotype to identify large pericentric inversions between species of Estrildid finches (family Estrildidae) and a time-dated phylogeny to assess the genomic, geographic, and phylogenetic context of karyotype evolution in this group. Inversions between finch species fixed at an average rate of one every 2.26 My. Inversions were twice as likely to fix on the sex chromosomes compared to the autosomes. A high repeat density on the sex chromosomes may increase mutation rates, but other explanations via mutagenic input are not supported, as the number of inversions on a chromosome does not correlate with its length or map size. Inversions have fixed 3.3× faster in three continental clades than in two island chain clades, and fixation rate correlates with both range size and the number of sympatric species pairs. These results point to adaptation as the dominant mechanism driving fixation and suggest a role for gene flow in karyotype divergence. A review shows that the rapid karyotype evolution observed in the Estrildid finches appears to be more general across birds, and by implication other understudied taxa. © 2015 The Author(s).

  12. Repetitive DNA: A Versatile Tool for Karyotyping in Festuca pratensis Huds

    Czech Academy of Sciences Publication Activity Database

    Křivánková, Anna; Kopecký, David; Stočes, Štěpán; Doležel, Jaroslav; Hřibová, Eva

    2017-01-01

    Roč. 151, č. 2 (2017), s. 96-105 ISSN 1424-8581 R&D Projects: GA MŠk(CZ) LO1204 Institutional support: RVO:61389030 Keywords : Fluorescence in situ hybridization * Karyotyping * Meadow fescue * Repetitive DNA * Tandem organized repeats Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Plant sciences, botany Impact factor: 1.354, year: 2016

  13. Karyotypes of four species of Xenodontini snakes (Serpentes: Dipsadidae) and implications for taxonomy

    NARCIS (Netherlands)

    Falcione, C.; Hernando, A.; Barrasso, D.A.; Pietro, di D.

    2016-01-01

    The karyotypes of four South American Xenodontini snake species, Lygophis dilepis, L. meridionalis, L. flavifrenatus and L. anomalus, are here described for the first time. We studied specimens from northeastern Argentina using conventional and silver (Ag-NOR) staining. While the typical ophidian

  14. Pregnancy outcome and nuchal translucency measurements in fetuses with a normal karyotype

    NARCIS (Netherlands)

    Pajkrt, E.; Mol, B. W.; Bleker, O. P.; Bilardo, C. M.

    1999-01-01

    The aim of this study was to examine the relationship between nuchal translucency thickness and pregnancy and fetal outcome in fetuses with a normal karyotype and without structural malformations. Fetal nuchal translucency measurements were performed in 2088 chromosomally and structurally normal

  15. Page 1 Ife.Journal of Sciencevol. 9, no.2(2007) 161 KARYOTYPE ...

    African Journals Online (AJOL)

    were collected from the wet forest, dry forest and derived savanna areas of Nigeria to determine their karyotype. Each of the species has a chromosome number of n = 7 (2n = 14). A pair of satellited chromosomes was observed in the genome of Greenwayodendron suaveolens and Cleistopholis patens. The centromeric ...

  16. Note on the karyotype and NOR phenotype of leuciscine fish Acanthobrama marmid (Osteichthyes, Cyprinidae).

    Czech Academy of Sciences Publication Activity Database

    Gaffaroglu, M.; Yuksel, E.; Ráb, Petr

    2006-01-01

    Roč. 61, č. 2 (2006), s. 207-209 ISSN 0006-3088 R&D Projects: GA AV ČR IAA6045405; GA MŠk LC06073 Institutional research plan: CEZ:AV0Z50450515 Keywords : karyotype * silver-staining * cytotaxonomy Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 0.213, year: 2006

  17. Karyotype analysis of Lilium longiflorum and Lilium rubellum by chromosome banding and fluorescence in situ hybridisation

    NARCIS (Netherlands)

    Lim, K.B.; Wennekes, J.; Jong, de J.H.S.G.M.; Jacobsen, E.; Tuyl, van J.M.

    2001-01-01

    Detailed karyotypes of Lilium longiflorum and L. rubellum were constructed on the basis of chromosome arm lengths, C-banding, AgNO3 staining, and PI-DAPI banding, together with fluorescence in situ hybridisation (FISH) with the 5S and 45S rDNA sequences as probes. The C-banding patterns that were

  18. A new karyotype of Heliophobius argenteocinereus (Bathyergidae, Rodentia) from Zambia with field notes on the species

    Czech Academy of Sciences Publication Activity Database

    Scharff, A.; Macholán, Miloš; Zima, Jan; Burda, H.

    2001-01-01

    Roč. 66, č. 6 (2001), s. 376-378 ISSN 1616-5047 R&D Projects: GA AV ČR KSK6005114 Institutional research plan: CEZ:AV0Z6093917 Keywords : karyotype * Heliophobius argenteocinereus Subject RIV: EG - Zoology

  19. Mediastinal mixed germ cell tumor in an infertile male with Klinefelter syndrome:A case report and literature review

    Directory of Open Access Journals (Sweden)

    Dinesh Pradhan

    2015-01-01

    Full Text Available Klinefelter syndrome (KS is a well-documented abnormality of the sex chromosome, with an incidence of 1 in 600 newborn males. It is characterized by a 47, XXY or a mosaic karyotype, hypergonadotrophic hypogonadism, infertility, reduced body hair, gynecomastia, and tall stature. Different neoplasms such as breast, testicular, and lymphoreticular malignancies may occur in 1% to2% of the cases with KS. Herein we describe a case of mediastinal mixed germ cell tumor (GCT in a 40-year-old male with KS. Interestingly, this case also had mitral valve prolapse, and an incidental papillary microcarcinoma of the thyroid gland. In view of the presence of pulmonary nodules, antemortem differential diagnoses considered were mycobacterial infection, lymphoma, thymic carcinoma, and a primary/metastatic neoplasm of the lung. As GCT was not considered, the serum markers of a GCT were not performed. The diagnosis of this rare mediastinal mixed GCT with KS was made at autopsy.

  20. MRI study on urinary abnormalities of fetus

    International Nuclear Information System (INIS)

    Liu Ming; Zhang Yuzhen; Wang Qiuyan; Zhang Zhongyang; Li Yuhua

    2007-01-01

    Objective: To illustrate the important complemental function of MRI in dignosing the urinary abnormalities of the fetus by analyzing MR features. Methods: MRI findings in 34 fetal urinary abnormalities were retrospectively analyzed. Results: Upper urinary tract dilatation was found in 12 cases: one case presented obstructed right renal dysplasia and was on the follow-up, postnatal MR imaging proved the duplex anomaly in one case, one case showed left PUJO on postnatal US imaging and prepared to surgery, 7 cases were normal on postnatal US imaging, 2 cases were lost to follow up. Bilateral urinary anomalies were found in 7 cases: Muhicystic renal dysplasia (n=3), Combined horseshoe kidney in 2 fetuses and bilateral renal aplasia in one case. Bilateral renal dysplasia was diagnosed in 2 cases, one was still bom and proved by autopsy and the other was lost to follow up. The case of bilateral renal agenesis displayed the appearance of sirenomelia on general specimen. The case of right renal agenesis associated contralateral kidney dyspalsia (n=1) was lost to follow up. MR imaging showed low signal intensity of lung and oligohydramnios in the bilateral anomalies. Unilateral urinary anomalies was found in 15 cases, including 9 cases of unilateral renal dysplasia. Two fetuses were aborted and 3 fetuses were proved with postnatal US or MR. One was lost to follow up; 3 cases were on the follow-up. There were 4 cases of unilateral renal agenesis, two fetuses were aborted and 2 fetuses were proved with postnatal US or MR imaging. The case of ectopic kidney was proved with postnatal US imaging. One case of urachal cyst was aborted without autopsy. In the unilateral anomalies, the volume of amniotic fluid was normal, and the fetal lung presented homogenious high signal intensity. Conclusion: As a complemental method, MRI is of great value in displaying and dignosing the urinary abnormalities of fetus. (authors)

  1. Freud Was Right. . . about the Origins of Abnormal Behavior

    Science.gov (United States)

    Muris, Peter

    2006-01-01

    Freud's psychodynamic theory is predominantly based on case histories of patients who displayed abnormal behavior. From a scientific point of view, Freud's analyses of these cases are unacceptable because the key concepts of his theory cannot be tested empirically. However, in one respect, Freud was totally right: most forms of abnormal behavior…

  2. Two cases of therapy-related myelodysplastic syndrome after concurrent oral cancer chemoradiotherapy

    International Nuclear Information System (INIS)

    Doi, Katsuyuki; Asano, Takanori; Kinoshita, Takashi

    2010-01-01

    Therapy-related myelodysplastic syndrome (t-MDS) and therapy-related leukemia (TRL) are reported increasingly often, and we report two cases of T-MDS after concurrent chemoradiotherapy (CCRT) with oral cancer. Patients underwent CCRT with cisplatin (CDDP) or carboplatin (CBDCA). The interval between primary CCRT and t-MDS was 11 months in 1 case and 14 years in the other. Chromosomal analysis indicated abnormal karyotypes. Platinum has a relatively lower t-MDS risk than alkylating agents or topoisomerase II inhibitors, but our experience supports concurrent use of radiotherapy with platinum affects the risk of t-MDS. If pancytopenia is detected after CCRT, bone marrow and cytogenetic examinations should be conducted to rule out t-MDS. (author)

  3. Parenchymal abnormalities associated with developmental venous anomalies

    Energy Technology Data Exchange (ETDEWEB)

    San Millan Ruiz, Diego; Gailloud, Philippe [Johns Hopkins Hospital, Division of Interventional Neuroradiology, Baltimore, MD (United States); Delavelle, Jacqueline [Geneva University Hospital, Neuroradiology Section, Department of Radiology and Medical Informatics, Geneva (Switzerland); Yilmaz, Hasan; Ruefenacht, Daniel A. [Geneva University Hospital, Section of Interventional Neuroradiology, Department of Clinical Neurosciences, Geneva (Switzerland); Piovan, Enrico; Bertramello, Alberto; Pizzini, Francesca [Verona City Hospital, Service of Neuroradiology, Verona (Italy)

    2007-12-15

    To report a retrospective series of 84 cerebral developmental venous anomalies (DVAs), focusing on associated parenchymal abnormalities within the drainage territory of the DVA. DVAs were identified during routine diagnostic radiological work-up based on magnetic resonance imaging (MRI) (60 cases), computed tomography (CT) (62 cases) or both (36 cases). Regional parenchymal modifications within the drainage territory of the DVA, such as cortical or subcortical atrophy, white matter density or signal alterations, dystrophic calcifications, presence of haemorrhage or a cavernous-like vascular malformation (CVM), were noted. A stenosis of the collecting vein of the DVA was also sought for. Brain abnormalities within the drainage territory of a DVA were encountered in 65.4% of the cases. Locoregional brain atrophy occurred in 29.7% of the cases, followed by white matter lesions in 28.3% of MRI investigations and 19.3% of CT investigations, CVMs in 13.3% of MRI investigations and dystrophic calcification in 9.6% of CT investigations. An intracranial haemorrhage possibly related to a DVA occurred in 2.4% cases, and a stenosis on the collecting vein was documented in 13.1% of cases. Parenchymal abnormalities were identified for all DVA sizes. Brain parenchymal abnormalities were associated with DVAs in close to two thirds of the cases evaluated. These abnormalities are thought to occur secondarily, likely during post-natal life, as a result of chronic venous hypertension. Outflow obstruction, progressive thickening of the walls of the DVA and their morphological organization into a venous convergence zone are thought to contribute to the development of venous hypertension in DVA. (orig.)

  4. Humero-spinal dysostosis: report of the fourth case with emphasis on generalized skeletal involvement, abnormal craniofacial features, and mitral valve thickening.

    Science.gov (United States)

    Hall, B D

    1997-01-01

    The fourth reported case of humero-spinal dysostosis is notable in that (a) it confirms the unique combination of bifid distal humeri and coronal clefts, (b) involves a third unique feature as being mitral valve thickening. (c) suggests a more generalized involvement of bone in the form of a dysplasia, and (d) raises the possibility of repetitive craniofacial features.

  5. PCR-based karyotyping of Anopheles gambiae inversion 2Rj identifies the BAMAKO chromosomal form.

    Science.gov (United States)

    Coulibaly, Mamadou B; Pombi, Marco; Caputo, Beniamino; Nwakanma, Davis; Jawara, Musa; Konate, Lassana; Dia, Ibrahima; Fofana, Abdrahamane; Kern, Marcia; Simard, Frédéric; Conway, David J; Petrarca, Vincenzo; della Torre, Alessandra; Traoré, Sékou; Besansky, Nora J

    2007-10-01

    The malaria vector Anopheles gambiae is polymorphic for chromosomal inversions on the right arm of chromosome 2 that segregate nonrandomly between assortatively mating populations in West Africa. One such inversion, 2Rj, is associated with the BAMAKO chromosomal form endemic to southern Mali and northern Guinea Conakry near the Niger River. Although it exploits a unique ecology and both molecular and chromosomal data suggest reduced gene flow between BAMAKO and other A. gambiae populations, no molecular markers exist to identify this form. To facilitate study of the BAMAKO form, a PCR assay for molecular karyotyping of 2Rj was developed based on sequences at the breakpoint junctions. The assay was extensively validated using more than 700 field specimens whose karyotypes were determined in parallel by cytogenetic and molecular methods. As inversion 2Rj also occurs in SAVANNA populations outside the geographic range of BAMAKO, samples were tested from Senegal, Cameroon and western Guinea Conakry as well as from Mali. In southern Mali, where 2Rj polymorphism in SAVANNA populations was very low and most of the 2Rj homozygotes were found in BAMAKO karyotypes, the molecular and cytogenetic methods were almost perfectly congruent. Elsewhere agreement between the methods was much poorer, as the molecular assay frequently misclassified 2Rj heterozygotes as 2R+j standard homozygotes. Molecular karyotyping of 2Rj is robust and accurate on 2R+j standard and 2Rj inverted homozygotes. Therefore, the proposed approach overcomes the lack of a rapid tool for identifying the BAMAKO form across developmental stages and sexes, and opens new perspectives for the study of BAMAKO ecology and behaviour. On the other hand, the method should not be applied for molecular karyotyping of j-carriers within the SAVANNA chromosomal form.

  6. PCR-based karyotyping of Anopheles gambiae inversion 2Rj identifies the BAMAKO chromosomal form

    Directory of Open Access Journals (Sweden)

    Conway David J

    2007-10-01

    Full Text Available Abstract Background The malaria vector Anopheles gambiae is polymorphic for chromosomal inversions on the right arm of chromosome 2 that segregate nonrandomly between assortatively mating populations in West Africa. One such inversion, 2Rj, is associated with the BAMAKO chromosomal form endemic to southern Mali and northern Guinea Conakry near the Niger River. Although it exploits a unique ecology and both molecular and chromosomal data suggest reduced gene flow between BAMAKO and other A. gambiae populations, no molecular markers exist to identify this form. Methods To facilitate study of the BAMAKO form, a PCR assay for molecular karyotyping of 2Rj was developed based on sequences at the breakpoint junctions. The assay was extensively validated using more than 700 field specimens whose karyotypes were determined in parallel by cytogenetic and molecular methods. As inversion 2Rj also occurs in SAVANNA populations outside the geographic range of BAMAKO, samples were tested from Senegal, Cameroon and western Guinea Conakry as well as from Mali. Results In southern Mali, where 2Rj polymorphism in SAVANNA populations was very low and most of the 2Rj homozygotes were found in BAMAKO karyotypes, the molecular and cytogenetic methods were almost perfectly congruent. Elsewhere agreement between the methods was much poorer, as the molecular assay frequently misclassified 2Rj heterozygotes as 2R+j standard homozygotes. Conclusion Molecular karyotyping of 2Rj is robust and accurate on 2R+j standard and 2Rj inverted homozygotes. Therefore, the proposed approach overcomes the lack of a rapid tool for identifying the BAMAKO form across developmental stages and sexes, and opens new perspectives for the study of BAMAKO ecology and behaviour. On the other hand, the method should not be applied for molecular karyotyping of j-carriers within the SAVANNA chromosomal form.

  7. Incidence of fetal chromosome abnormalities in insulin dependent diabetic women

    DEFF Research Database (Denmark)

    Henriques, C U; Damm, P; Tabor, A

    1991-01-01

    In order to screen for fetal neural tube defects and chromosome abnormalities, amniocentesis was carried out in 334 women with insulin-dependent diabetes mellitus (IDDM) between 1979 and 1987. Two cases (0.6%; 95% confidence limits 0.1-2.2%) of fetal chromosome abnormality were found: one case...... of Klinefelter's syndrome and one case of de novo translocation. This is comparable to the overall incidence of chromosome abnormality found at birth and is also comparable to the incidence of fetal chromosome abnormality (1.0%) found by amniocentesis at our Department in a group of 2,264 young non......-diabetic women with little risk of contracting genetic disorders. The results suggest that maternal IDDM does not increase the risk of fetal chromosome abnormality and consequently screening by amniocentesis for chromosome abnormalities among diabetic women does not seem to be indicated....

  8. Neurological abnormalities predict disability

    DEFF Research Database (Denmark)

    Poggesi, Anna; Gouw, Alida; van der Flier, Wiesje

    2014-01-01

    To investigate the role of neurological abnormalities and magnetic resonance imaging (MRI) lesions in predicting global functional decline in a cohort of initially independent-living elderly subjects. The Leukoaraiosis And DISability (LADIS) Study, involving 11 European centres, was primarily aimed...... at evaluating age-related white matter changes (ARWMC) as an independent predictor of the transition to disability (according to Instrumental Activities of Daily Living scale) or death in independent elderly subjects that were followed up for 3 years. At baseline, a standardized neurological examination.......0 years, 45 % males), 327 (51.7 %) presented at the initial visit with ≥1 neurological abnormality and 242 (38 %) reached the main study outcome. Cox regression analyses, adjusting for MRI features and other determinants of functional decline, showed that the baseline presence of any neurological...

  9. The relationship between clinical feature, complex immunophenotype, chromosome karyotype, and outcome of patients with acute myeloid leukemia in China.

    Science.gov (United States)

    Ding, Bingjie; Zhou, Lanlan; Jiang, Xuejie; Li, Xiaodong; Zhong, Qingxiu; Wang, Zhixiang; Yi, Zhengshan; Zheng, Zhongxin; Yin, Changxin; Cao, Rui; Liao, Libin; Meng, Fanyi

    2015-01-01

    Mixed phenotype acute leukemia (MPAL) is a complex entity expressing both lymphoid and myeloid immunophenotyping. In the present study, 47 MPAL, 60 lymphoid antigen-positive acute myeloid leukemia (Ly(+)AML), and 90 acute myeloid leukemia with common myeloid immunophenotype (Ly(-)AML) patients were investigated. We found that, in MPAL patients, there were high proportions of blast cells in bone marrow and incidence of hepatosplenomegaly, lymphadenopathy, and Philadelphia chromosome. The overall survival (OS) and relapse-free survival (RFS) in MPAL patients were significantly shorter than those in Ly(+)AML and Ly(-)AML. With regard to the patients with normal karyotype only, the OS and RFS of MPAL were significantly lower than those of the Ly(+)AML and Ly(-)AML; but there were no significant differences in OS and RFS among the patients with complex karyotype. The OS rates of 3 groups with complex karyotype were lower than those of patients with normal karyotype. In Cox multivariate analysis, complex karyotype was an independent pejorative factor for both OS and RFS. Therefore, MPAL is confirmed to be a poor-risk disease while Ly(+)AML does not impact prognosis. Complex karyotype is an unfavorable prognosis factor in AML patients with different immunophenotype. Mixed immunophenotype and complex karyotype increase the adverse risk when they coexist.

  10. Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results.

    Science.gov (United States)

    Zhen, Li; Fan, Shu-Shu; Huang, Lv-Yin; Pan, Min; Han, Jin; Yang, Xin; Li, Dong-Zhi

    2018-03-31

    To present the experience on prenatal diagnosis of Wolf-Hirschhorn syndrome (WHS) to further delineate the fetal presentation of this syndrome. This was a retrospective analysis of ten pregnancies with fetal WHS identified by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes. Three cases were diagnosed at the first trimester because of an increased NT or cystic hygroma. The remaining seven cases were identified at late gestation for abnormal ultrasound findings. CMA revealed 4p deletions to be terminal in all of the ten cases. Deletion sizes ranged from 2.05 to 19.02 Mb. Prenatal findings such as increased NT, severe and early onset intrauterine growth retardation, and renal dysplasia or oligohydramnios should warrant the diagnosis of WHS and invasive testing using CMA. Copyright © 2018 Elsevier B.V. All rights reserved.

  11. Skeletal abnormalities in fetuses with Down`s syndrome: a radiographic post-mortem study

    Energy Technology Data Exchange (ETDEWEB)

    Stempfle, N.; Brisse, H. [Department of Radiology, R. Debre Hospital, Paris (France); Huten, Y.; Fredouille, C.; Nessmann, C. [Department of Developmental Biology, R. Debre Hospital, Paris (France)

    1999-09-01

    Objective. To evaluate skeletal abnormalities on post-mortem radiographs of fetuses with Down`s syndrome. Materials and methods. Biometrical and morphological criteria, which are used for US prenatal detection of trisomy 21, were assessed. Limb long bones, biparietal diameter (BPD)/occipito-frontal diameter (OFD) ratio, ossification of nasal bones and appearance of the middle phalanx of the fifth digit (P2) in 60 fetuses with Down`s syndrome were analysed and compared with 82 normal fetuses matched for gestational age (GA) from 15 to 40 weeks` gestation (WG). Results. We observed reduced growth velocity of limb long bones during the third trimester in both groups, but the reduction was more pronounced in the trisomic group. Brachycephaly was found as early as 15 WG in Down`s syndrome and continued throughout gestation (sensitivity 0.28, specificity 1). Ossification of the nasal bones, which can be detected in normal fetuses from 14 WG, was absent in one quarter of trisomic fetuses, regardless of GA. The middle phalanx of the fifth digit was evaluated by comparison with the distal phalanx (P3) of the same digit. We found that P2 was not ossified in 11/31 trisomic fetuses before 23 WG, and was either not ossified or hypoplastic in 17/29 cases after 24 WG (sensitivity 0.56, specificity 1). Conclusions. Three key skeletal signs were present in trisomic fetuses: brachycephaly, absence of nasal bone ossification, and hypoplasia of the middle phalanx of the fifth digit. All these signs are appropriate to prenatal US screening. When present, they fully justify determination of the fetal karyotype by amniocentesis. (orig.) With 7 figs., 1 tab., 25 refs.

  12. Skeletal abnormalities in fetuses with Down's syndrome: a radiographic post-mortem study

    International Nuclear Information System (INIS)

    Stempfle, N.; Brisse, H.; Huten, Y.; Fredouille, C.; Nessmann, C.

    1999-01-01

    Objective. To evaluate skeletal abnormalities on post-mortem radiographs of fetuses with Down's syndrome. Materials and methods. Biometrical and morphological criteria, which are used for US prenatal detection of trisomy 21, were assessed. Limb long bones, biparietal diameter (BPD)/occipito-frontal diameter (OFD) ratio, ossification of nasal bones and appearance of the middle phalanx of the fifth digit (P2) in 60 fetuses with Down's syndrome were analysed and compared with 82 normal fetuses matched for gestational age (GA) from 15 to 40 weeks' gestation (WG). Results. We observed reduced growth velocity of limb long bones during the third trimester in both groups, but the reduction was more pronounced in the trisomic group. Brachycephaly was found as early as 15 WG in Down's syndrome and continued throughout gestation (sensitivity 0.28, specificity 1). Ossification of the nasal bones, which can be detected in normal fetuses from 14 WG, was absent in one quarter of trisomic fetuses, regardless of GA. The middle phalanx of the fifth digit was evaluated by comparison with the distal phalanx (P3) of the same digit. We found that P2 was not ossified in 11/31 trisomic fetuses before 23 WG, and was either not ossified or hypoplastic in 17/29 cases after 24 WG (sensitivity 0.56, specificity 1). Conclusions. Three key skeletal signs were present in trisomic fetuses: brachycephaly, absence of nasal bone ossification, and hypoplasia of the middle phalanx of the fifth digit. All these signs are appropriate to prenatal US screening. When present, they fully justify determination of the fetal karyotype by amniocentesis. (orig.)

  13. Complex Karyotype is a Stronger Predictor than Del(17p) for Inferior Outcome in Relapsed or Refractory CLL Patients Treated with Ibrutinib-Based Regimens

    Science.gov (United States)

    Thompson, Philip A.; O’Brien, Susan M.; Wierda, William G.; Ferrajoli, Alessandra; Stingo, Francesco; Smith, Susan C.; Burger, Jan A.; Estrov, Zeev; Jain, Nitin; Kantarjian, Hagop M.; Keating, Michael J.

    2016-01-01

    Background Ibrutinib is active in patients with relapsed/refractory (R/R) CLL. In patients treated with ibrutinib for R/R CLL, del(17p) identified by interphase fluorescence in situ hybridization (FISH) is associated with inferior progression-free survival, despite equivalent initial response rates. Del(17p) is frequently associated with complex metaphase karyotype (CKT); the prognostic significance of CKT in ibrutinib-treated patients has not been reported. Methods We reviewed 88 patients treated for R/R CLL at MD Anderson Cancer Center with investigational ibrutinib-based regimens from 2010–2013. Pre-treatment FISH and Lipopolysaccharide-stimulated metaphase cytogenetic analysis were performed on bone marrow. Results Adequate pre-treatment metaphase karyotype was available for 56/88 patients. Karyotype was complex in 21 of 56 cases; 17 of the 21 had del(17p) by FISH. Overall response rate, including partial remission with persistent lymphocytosis, was 94% with 17% complete responses. In multivariable analysis (MVA), only CKT was significantly associated with event-free survival (EFS) [HR 6.6 (1.7–25.6), p=0.006]. Fludarabine-refractory CLL [HR 6.9 (1.8–27.1), p=0.005] and CKT [HR 5.9 (1.6–22.2), p=0.008] were independently associated with inferior overall survival (OS) in MVA. Del(17p) by FISH was not significantly associated with EFS or OS in MVA. Conclusions CKT is a powerful predictor of outcome in ibrutinib-treated patients with R/R CLL and may be a stronger predictor of biological behavior than del(17p) by FISH. Given their relatively poor outcomes, patients with CKT are ideal candidates for studies of consolidative treatment strategies or novel treatment combinations. PMID:26193999

  14. Asexual Reproduction Does Not Apparently Increase the Rate of Chromosomal Evolution: Karyotype Stability in Diploid and Triploid Clonal Hybrid Fish (Cobitis, Cypriniformes, Teleostei).

    Science.gov (United States)

    Majtánová, Zuzana; Choleva, Lukáš; Symonová, Radka; Ráb, Petr; Kotusz, Jan; Pekárik, Ladislav; Janko, Karel

    2016-01-01

    Interspecific hybridization, polyploidization and transitions from sexuality to asexuality considerably affect organismal genomes. Especially the last mentioned process has been assumed to play a significant role in the initiation of chromosomal rearrangements, causing increased rates of karyotype evolution. We used cytogenetic analysis and molecular dating of cladogenetic events to compare the rate of changes of chromosome morphology and karyotype in asexually and sexually reproducing counterparts in European spined loach fish (Cobitis). We studied metaphases of three sexually reproducing species and their diploid and polyploid hybrid clones of different age of origin. The material includes artificial F1 hybrid strains, representatives of lineage originated in Holocene epoch, and also individuals of an oldest known age to date (roughly 0.37 MYA). Thereafter we applied GISH technique as a marker to differentiate parental chromosomal sets in hybrids. Although the sexual species accumulated remarkable chromosomal rearrangements after their speciation, we observed no differences in chromosome numbers and/or morphology among karyotypes of asexual hybrids. These hybrids possess chromosome sets originating from respective parental species with no cytogenetically detectable recombinations, suggesting their integrity even in a long term. The switch to asexual reproduction thus did not provoke any significant acceleration of the rate of chromosomal evolution in Cobitis. Asexual animals described in other case studies reproduce ameiotically, while Cobitis hybrids described here produce eggs likely through modified meiosis. Therefore, our findings indicate that the effect of asexuality on the rate of chromosomal change may be context-dependent rather than universal and related to particular type of asexual reproduction.

  15. Asexual Reproduction Does Not Apparently Increase the Rate of Chromosomal Evolution: Karyotype Stability in Diploid and Triploid Clonal Hybrid Fish (Cobitis, Cypriniformes, Teleostei.

    Directory of Open Access Journals (Sweden)

    Zuzana Majtánová

    Full Text Available Interspecific hybridization, polyploidization and transitions from sexuality to asexuality considerably affect organismal genomes. Especially the last mentioned process has been assumed to play a significant role in the initiation of chromosomal rearrangements, causing increased rates of karyotype evolution. We used cytogenetic analysis and molecular dating of cladogenetic events to compare the rate of changes of chromosome morphology and karyotype in asexually and sexually reproducing counterparts in European spined loach fish (Cobitis. We studied metaphases of three sexually reproducing species and their diploid and polyploid hybrid clones of different age of origin. The material includes artificial F1 hybrid strains, representatives of lineage originated in Holocene epoch, and also individuals of an oldest known age to date (roughly 0.37 MYA. Thereafter we applied GISH technique as a marker to differentiate parental chromosomal sets in hybrids. Although the sexual species accumulated remarkable chromosomal rearrangements after their speciation, we observed no differences in chromosome numbers and/or morphology among karyotypes of asexual hybrids. These hybrids possess chromosome sets originating from respective parental species with no cytogenetically detectable recombinations, suggesting their integrity even in a long term. The switch to asexual reproduction thus did not provoke any significant acceleration of the rate of chromosomal evolution in Cobitis. Asexual animals described in other case studies reproduce ameiotically, while Cobitis hybrids described here produce eggs likely through modified meiosis. Therefore, our findings indicate that the effect of asexuality on the rate of chromosomal change may be context-dependent rather than universal and related to particular type of asexual reproduction.

  16. Interclonal variations in the molecular karyotype of Trypanosoma cruzi: chromosome rearrangements in a single cell-derived clone of the G strain.

    Science.gov (United States)

    Lima, Fabio Mitsuo; Souza, Renata Torres; Santori, Fábio Rinaldo; Santos, Michele Fernandes; Cortez, Danielle Rodrigues; Barros, Roberto Moraes; Cano, Maria Isabel; Valadares, Helder Magno Silva; Macedo, Andréa Mara; Mortara, Renato Arruda; da Silveira, José Franco

    2013-01-01

    Trypanosoma cruzi comprises a pool of populations which are genetically diverse in terms of DNA content, growth and infectivity. Inter- and intra-strain karyotype heterogeneities have been reported, suggesting that chromosomal rearrangements occurred during the evolution of this parasite. Clone D11 is a single-cell-derived clone of the T. cruzi G strain selected by the minimal dilution method and by infecting Vero cells with metacyclic trypomastigotes. Here we report that the karyotype of clone D11 differs from that of the G strain in both number and size of chromosomal bands. Large chromosomal rearrangement was observed in the chromosomes carrying the tubulin loci. However, most of the chromosome length polymorphisms were of small amplitude, and the absence of one band in clone D11 in relation to its reference position in the G strain could be correlated to the presence of a novel band migrating above or below this position. Despite the presence of chromosomal polymorphism, large syntenic groups were conserved between the isolates. The appearance of new chromosomal bands in clone D11 could be explained by chromosome fusion followed by a chromosome break or interchromosomal exchange of large DNA segments. Our results also suggest that telomeric regions are involved in this process. The variant represented by clone D11 could have been induced by the stress of the cloning procedure or could, as has been suggested for Leishmania infantum, have emerged from a multiclonal, mosaic parasite population submitted to frequent DNA amplification/deletion events, leading to a 'mosaic' structure with different individuals having differently sized versions of the same chromosomes. If this is the case, the variant represented by clone D11 would be better adapted to survive the stress induced by cloning, which includes intracellular development in the mammalian cell. Karyotype polymorphism could be part of the T. cruzi arsenal for responding to environmental pressure.

  17. Failure of the inflatable penile prosthesis due to abnormal folding of a low-profile reservoir – A selected case from an overall series and systematic review

    Directory of Open Access Journals (Sweden)

    Roberto Alejandro Navarrete

    2017-09-01

    Full Text Available We present a case from a running series of inflatable penile prosthesis failure due to improper folding of the Conceal™ reservoir. The Conceal™ Low-Profile reservoir gained popularity due to claims of improved cosmesis and ease of implantation. As the number of patients receiving this and other low-profile reservoirs increases, it is imperative to review and document any novel complications. While the Conceal™ reservoir may be preferred in ectopic placement, it may be more prone to fluid lockout facilitated by conformational change. Our review did not identify prior reports of improper folding, which we believe is unique to these low-profile reservoirs.

  18. A case of cardiac sudden death related to abnormality of sympathetic nervous disturbance detected by {sup 123}I-metaiodobenzylguanidine (MIBG)

    Energy Technology Data Exchange (ETDEWEB)

    Igarashi, Masaki; Matsukawa, Seishirou; Morishita, Takeshi [Toho Univ., Tokyo (Japan). School of Medicine

    1996-11-01

    A case of cardiac sudden death was reported. A female, 64 years old patient with multiple myeloma had been treated with total dose of 790 mg of adriamycin. Although treadmill examination, dobutamine-loaded cardiac echography and thallium-loaded myocardial scintigraphy gave normal findings, Holter ECG revealed bigeminy and discontinuous ventricular tachycardia. Mexiletine was not tolerated. {sup 123}I-MIBG image gave deficit of lateral to posterior wall and increased washing rate of 65%. At 36 days after hospitalization, the ventricular tachycardia changed to fatal fibrillation. The sympathetic nervous disturbance detected by the enhanced washing rate of {sup 123}I-MIBG might have participated in the death. (K.H.)

  19. Biphasic thallium 201 SPECT-imaging for the noninvasive diagnosis of myocardial perfusion abnormalities in a child with Kawasaki disease--a case report

    International Nuclear Information System (INIS)

    Hausdorf, G.; Nienaber, C.A.; Spielman, R.P.

    1988-01-01

    The mucocutaneous lymph node syndrome (Kawasaki disease) is of increasing importance for the pediatric cardiologist, for coronary aneurysms with the potential of thrombosis and subsequent stenosis can develop in the course of the disease. The authors report a 2 1/2-year-old female child in whom, fourteen months after the acute phase of Kawasaki disease, myocardial infarction occurred. Biphasic thallium 201 SPECT-imaging using dipyridamole depicted anterior wall ischemia and inferolateral infarction. This case demonstrates that noninvasive vasodilation-redistribution thallium 201 SPECT-imaging has the potential to predict reversible myocardial perfusion defects and myocardial necrosis, even in small infants with Kawasaki disease

  20. [The species and karyotype composition of malaria mosquito larvae in different water reservoirs of the city of Moscow].

    Science.gov (United States)

    Tanygina, E Iu; Gordeev, M I; Moskaev, A V; Ganushkina, L A

    2014-01-01

    The species and karyotype composition of malaria mosquito larvae was investigated in different water reservoirs of the city of Moscow. Cytogenetic analysis identified 2 malaria mosquito species: An. maculipennis Mg and An. messeae Fall. An. messeae was predominant in all the biotopes studied. The proportion of An. maculipennis varied from 0 to 23.8% and averaged 6.27%. An. messeae larvae were found to have chromosomal polymorphism. Individual local An. messeae populations having a definite, historically established, time and space resistant karyotype structure were shown to form in Moscow. The resistance of the karyotype structure of the populations was provided by reversible fluctuations in the rate of chromosomal inversions.