scholarly journals Kabızlık ve Üfürümle Tespit Edilen Williams-Beuren Sendromu

2021 ◽  
Vol 2 (2) ◽  
pp. 60-62
Author(s):  
Merve BÜYÜKBAYRAM ◽  
Deniz ERİS ◽  
Taner KARAKAYA
Keyword(s):  
Fluorescent In Situ Hybridization ◽  
Congenital Heart ◽  
Pulmonary Stenosis ◽  
Clinical Findings ◽  
Laboratory Findings ◽  
Microdeletion Syndromes ◽  
Multidimensional Evaluation ◽  
Cardiovascular Anomalies ◽  
Peripheral Pulmonary Stenosis

Williams-Beuren Syndrome Detected with Constipation and Murmur Williams-Beuren syndrome (WBS) is a rare disease that occurs as a result of microdeletion of 11.23 of the long arm of chromosome 7, with a frequency of 1/20.000-30.000. Typical facial appearance, mental retardation, various congenital cardiovascular anomalies and endocrinological disorders may accompany this syndrome. In cases suspected as a result of clinical and laboratory findings, the diagnosis is made by showing the deletion of the mentioned region using the fluorescent in situ hybridization (FISH) method. We detected WBS in a 17-month-old male patient who presented with chronic constipation and had peripheral pulmonary stenosis in echocardiography performed with accompanying clinical findings, and aimed to emphasize the importance of multidimensional evaluation and early diagnosis. Keywords: Congenital heart disease, pulmonary stenosis, microdeletion syndromes, constipation, Williams-Beuren syndrome

scholarly journals Use of FISH technique in the diagnosis of chromosomal syndromes

1999 ◽  
Vol 5 (6) ◽  
pp. 1218-1224
Author(s):  
M. A. Iqbal ◽  
C. Ulmer ◽  
N. Sakati
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Chromosome Analysis ◽  
Laboratory Diagnosis ◽  
Fish Analysis ◽  
Prader Willi Syndrome ◽  
Microdeletion Syndrome ◽  
Microdeletion Syndromes ◽  
Di George Syndrome

Major chromosome abnormalities are present in 0.65% of all neonates. Fluorescent in situ hybridization [FISH]is useful in diagnosing microdeletion syndromes that would otherwise be difficult to diagnose using standard cytogenetics. In this study, we used FISH analysis in the laboratory diagnosis of 4 patients with Prader-Willi Syndrome [del[15][q11.2q12], 4 patients with Di George syndrome [del[22][q11.2q11.23] and 4 patients with Williams syndrome [del[7][q11.23q11.23]. High-resolution chromosome analysis in all these patients was either normal or inconclusive but all the syndromes were confirmed using FISH. We recommend cytogenetic analysis should always be supplemented with FISH to diagnose all cases suspected of a microdeletion syndrome

scholarly journals The spectrum of microdeletian syndromes at the hospital of Lithuanian university of health sciences

Genetika ◽  
2016 ◽  
Vol 48 (3) ◽  
pp. 859-866
Author(s):  
Karina Cesaityte ◽  
Danielius Serapinas
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Clinical Symptoms ◽  
Rare Condition ◽  
Health Sciences ◽  
Prader Willi Syndrome ◽  
Microdeletion Syndrome ◽  
Cri Du Chat Syndrome ◽  
Microdeletion Syndromes

Microdeletion syndrome is a rare condition which can be diagnosed by fluorescent in situ hybridization (FISH) method. We analyzed microdeletion syndromes cases during ten years period (2005-2015) at The Hospital of Lithuanian University of Health Sciences. We report 2 patients with Prader-Willi syndrome, 2 patients with Smith-Magenis syndrome, 1 patient with Angelman syndrome and 1 patient with Cri du Chat syndrome. All syndromes were confirmed by FISH. These cases contain mainly data about phenotype abnormalities and clinical symptoms.

scholarly journals Chromosome 22 microdeletion in children with syndromic congenital heart disease by fluorescent in situ hybridization (FISH)

2012 ◽  
Vol 13 (3) ◽  
pp. 313-322
Author(s):  
Soheir S.A. El-Ella ◽  
Fady El Gendy ◽  
Maha A.M. Tawfik ◽  
Ezzat El Sobky ◽  
Ahmed Khattab ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Congenital Heart ◽  
Chromosome 22

1796: Analysis of Chromosomal Aneuploidy in Patients with Oligoasthenoteratozoospermia(OAT) Using Fluorescent in-situ Hybridization

2007 ◽  
Vol 177 (4S) ◽  
pp. 596-597
Author(s):  
Joseph P. Alukal ◽  
Bobby B. Najari ◽  
Wilson Chuang ◽  
Lata Murthy ◽  
Monica Lopez-Perdomo ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Chromosomal Aneuploidy

Follow-up of Osteomyelitis of Infants with Systemic Serum Parameters and Bone Scintigraphy

1996 ◽  
Vol 35 (04) ◽  
pp. 116-121 ◽  
Author(s):  
G. E Fueger ◽  
M. Vejda ◽  
R. M. Aigner
Keyword(s):  
Bone Scintigraphy ◽  
Antibiotic Treatment ◽  
Diagnostic Value ◽  
Clinical Findings ◽  
Laboratory Findings ◽  
Radiographic Findings ◽  
Serum Parameters ◽  
Wbc Count ◽  
Differential White Blood Cell

Summary Aim: To prevent orthopedic sequelae in acute hematogenous pyogenic osteomyelitis (AHPO) of infants early diagnosis, recognition of recurrence and effective therapy is needed. This retrospective study of 47 infants with bacteriologically confirmed AHPO concerned with an analysis of the diagnostic value of systemic serum parameters compared to bone scintigraphy (BSC). Methods: AHPO was characterized initially and during the course of disease by clinical findings, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), total and differential white blood cell (WBC) count, BSC, and plain radiography. Results: CRP was the most effective serum parameter for follow- up of disease. The first sign of BSC to signal adequate response to antibiotic treatment was the decrease or normalization of hyperperfusion. Escape from therapy or poor prognosis, even when the serum parameters were normalized, was signaled by the recurrence of focal hyperperfusion and the persistent or increasing local uptake ratios on the 3-h-image over 6 weeks during a course of antibiotic treatment. Conclusion: Antibiotic treatment masks the clinical presentation, and the radiographic findings, causes non-characteristic laboratory findings, but do not prevent the scintigraphic visualization; BSC and serum parameters used in the right completion are the most successful and efficient modalities for follow-up of AHPO. Maintenance of antibiotic therapy should be done until BSC findings have reverted to normal.

scholarly journals Simultaneous genotypic and immunophenotypic analysis of interphase cells using dual-color fluorescence: a demonstration of lineage involvement in polycythemia vera

Blood ◽  
1992 ◽  
Vol 80 (4) ◽  
pp. 1033-1038 ◽  
Author(s):  
CM Price ◽  
EJ Kanfer ◽  
SM Colman ◽  
N Westwood ◽  
AJ Barrett ◽  
...  
Keyword(s):  
Polycythemia Vera ◽  
Fluorescent In Situ Hybridization ◽  
Chromosomal Abnormalities ◽  
Myeloproliferative Disorders ◽  
Chromosome 8 ◽  
Dual Fluorescence ◽  
Interphase Cell ◽  
Molecular Alterations ◽  
Interphase Cells

Abstract Fluorescent in situ hybridization has become a useful technique by which chromosomal abnormalities may be shown in interphase cells. We present a dual-fluorescence method whereby a chromosomal and immunophenotypic marker can be visualized simultaneously in the same interphase cell. Two patients with the myeloproliferative disorder polycythemia vera and trisomy for chromosome 8 have been studied using this technique and selective involvement of the myeloid and erythrocyte lineages has been shown by the detection of the trisomy in immunophenotyped cells. Simultaneous analysis of genotype and immunophenotype in individual cells from patients with myeloproliferative disorders or leukemia may help identify the developmental and lineage status of cells in which molecular alterations have resulted in clonal advantage.

scholarly journals Metagenome-assembled genomes infer potential microbial metabolism in alkaline sulphidic tailings

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Wenjun Li ◽  
Xiaofang Li
Keyword(s):  
Community Structure ◽  
Mine Tailings ◽  
Fluorescent In Situ Hybridization ◽  
High Throughput Sequencing ◽  
Microbial Consortia ◽  
Metabolic Reconstruction ◽  
Metal Release ◽  
Community Members ◽  
Oxidative Stresses

Abstract Background Mine tailings are hostile environment. It has been well documented that several microbes can inhabit such environment, and metagenomic reconstruction has successfully pinpointed their activities and community structure in acidic tailings environments. We still know little about the microbial metabolic capacities of alkaline sulphidic environment where microbial processes are critically important for the revegetation. Microbial communities therein may not only provide soil functions, but also ameliorate the environment stresses for plants’ survival. Results In this study, we detected a considerable amount of viable bacterial and archaeal cells using fluorescent in situ hybridization in alkaline sulphidic tailings from Mt Isa, Queensland. By taking advantage of high-throughput sequencing and up-to-date metagenomic binning technology, we reconstructed the microbial community structure and potential coupled iron and nitrogen metabolism pathways in the tailings. Assembly of 10 metagenome-assembled genomes (MAGs), with 5 nearly complete, was achieved. From this, detailed insights into the community metabolic capabilities was derived. Dominant microbial species were seen to possess powerful resistance systems for osmotic, metal and oxidative stresses. Additionally, these community members had metabolic capabilities for sulphide oxidation, for causing increased salinity and metal release, and for leading to N depletion. Conclusions Here our results show that a considerable amount of microbial cells inhabit the mine tailings, who possess a variety of genes for stress response. Metabolic reconstruction infers that the microbial consortia may actively accelerate the sulphide weathering and N depletion therein.

scholarly journals Urinary Metabolomics Study of Patients with Bicuspid Aortic Valve Disease

Molecules ◽  
2021 ◽  
Vol 26 (14) ◽  
pp. 4220
Author(s):  
Massimo Chessa ◽  
Mario Panebianco ◽  
Sara Corbu ◽  
Milena Lussu ◽  
Angelica Dessì ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Metabolic Pathways ◽  
Congenital Heart ◽  
Roc Analysis ◽  
Operating Characteristic ◽  
Molecular Fingerprint ◽  
Metabolomics Study ◽  
Cardiovascular Anomalies ◽  
Potential Use

Bicuspid aortic valve (BAV) is the most common congenital heart defect responsible for valvular and aortic complications in affected patients. Causes and mechanisms of this pathology are still elusive and thus the lack of early detection biomarkers leads to challenges in its diagnosis and prevention of associated cardiovascular anomalies. The aim of this study was to explore the potential use of urine Nuclear Magnetic Resonance (NMR) metabolomics to evaluate a molecular fingerprint of BAV. Both multivariate and univariate statistical analyses were performed to compare the urinary metabolome of 20 patients with BAV with that of 24 matched controls. Orthogonal partial least squared discriminant analysis (OPLS-DA) showed statistically significant discrimination between cases and controls, suggesting seven metabolites (3-hydroxybutyrate, alanine, betaine, creatine, glycine, hippurate, and taurine) as potential biomarkers. Among these, glycine, hippurate and taurine individually displayed medium sensitivity and specificity by receiver operating characteristic (ROC) analysis. Pathway analysis indicated two metabolic pathways likely perturbed in BAV subjects. Possible contributions of gut microbiota activity and energy imbalance are also discussed. These results constitute encouraging preliminary findings in favor of the use of urine-based metabolomics for early diagnosis of BAV.

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