scholarly journals Screening for Subtelomeric Rearrangements in Thai Patients with Intellectual Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 Cases with Intellectual Disabilities

2016 ◽  
Vol 2016 ◽  
pp. 1-13 ◽  
Author(s):  
Chariyawan Charalsawadi ◽  
Jariya Khayman ◽  
Verayuth Praphanphoj ◽  
Pornprot Limprasert
Keyword(s):  
Intellectual Disabilities ◽  
Detection Rate ◽  
Deletion Syndrome ◽  
Review Of Literature ◽  
Multiple Congenital Anomalies ◽  
Dysmorphic Features ◽  
Combining Data ◽  
The One ◽  
Subtelomeric Rearrangements

We utilized fluorescence in situ hybridization (FISH) to screen for subtelomeric rearrangements in 82 Thai patients with unexplained intellectual disability (ID) and detected subtelomeric rearrangements in 5 patients. Here, we reported on a patient with der(20)t(X;20)(p22.3;q13.3) and a patient with der(3)t(X;3)(p22.3;p26.3). These rearrangements have never been described elsewhere. We also reported on a patient with der(10)t(7;10)(p22.3;q26.3), of which the same rearrangement had been reported in one literature. Well-recognized syndromes were detected in two separated patients, including 4p deletion syndrome and 1p36 deletion syndrome. All patients with subtelomeric rearrangements had both ID and multiple congenital anomalies (MCA) and/or dysmorphic features (DF), except the one with der(20)t(X;20), who had ID alone. By using FISH, the detection rate of subtelomeric rearrangements in patients with both ID and MCA/DF was 8.5%, compared to 2.9% of patients with only ID. Literature review found 28 studies on the detection of subtelomeric rearrangements by FISH in patients with ID. Combining data from these studies and our study, 15,591 patients were examined and 473 patients with subtelomeric rearrangements were determined. The frequency of subtelomeric rearrangements detected by FISH in patients with ID was 3%. Terminal deletions were found in 47.7%, while unbalanced derivative chromosomes were found in 47.9% of the rearrangements.

scholarly journals NIR responsive tumor vaccine in situ for photothermal ablation and chemotherapy to trigger robust antitumor immune responses

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Lirong Zhang ◽  
Jingjing Zhang ◽  
Lixia Xu ◽  
Zijian Zhuang ◽  
Jingjin Liu ◽  
...  
Keyword(s):  
Immune Responses ◽  
Tumor Vaccine ◽  
Oxidative Polymerization ◽  
Delivery Mode ◽  
Tumor Treatment ◽  
One Pot ◽  
Photothermal Ablation ◽  
Prolonged Retention ◽  
The One

Abstract Background Therapeutic tumor vaccine (TTV) that induces tumor-specific immunity has enormous potentials in tumor treatment, but high heterogeneity and poor immunogenicity of tumor seriously impair its clinical efficacy. Herein, a novel NIR responsive tumor vaccine in situ (HA-PDA@IQ/DOX HG) was prepared by integrating hyaluronic acid functionalized polydopamine nanoparticles (HA-PDA NPs) with immune adjuvants (Imiquimod, IQ) and doxorubicin (DOX) into thermal-sensitive hydrogel. Results HA-PDA@IQ NPs with high photothermal conversion efficiency (41.2%) and T1-relaxation efficiency were using HA as stabilizer by the one-pot oxidative polymerization. Then, HA-PDA@IQ loaded DOX via π-π stacking and mixed with thermal-sensitive hydrogel to form the HA-PDA@IQ/DOX HG. The hydrogel-confined delivery mode endowed HA-PDA@IQ/DOX NPs with multiple photothermal ablation performance once injection upon NIR irradiation due to the prolonged retention in tumor site. More importantly, this mode enabled HA-PDA@IQ/DOX NPs to promote the DC maturation, memory T cells in lymphatic node as well as cytotoxic T lymphocytes in spleen. Conclusion Taken together, the HA-PDA@IQ/DOX HG could be served as a theranostic tumor vaccine for complete photothermal ablation to trigger robust antitumor immune responses.

scholarly journals Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1511
Author(s):  
Tatyana V. Karamysheva ◽  
Tatyana A. Gayner ◽  
Vladimir V. Muzyka ◽  
Konstantin E. Orishchenko ◽  
Nikolay B. Rubtsov
Keyword(s):  
Genetic Counseling ◽  
Chromosome Rearrangement ◽  
Marker Chromosome ◽  
Reproductive Function ◽  
Small Supernumerary Marker Chromosome ◽  
Comprehensive Chromosome Screening ◽  
The Family ◽  
Multicolor Banding ◽  
The One

For medical genetic counseling, estimating the chance of a child being born with chromosome abnormality is crucially important. Cytogenetic diagnostics of parents with a balanced karyotype are a special case. Such chromosome rearrangements cannot be detected with comprehensive chromosome screening. In the current paper, we consider chromosome diagnostics in two cases of chromosome rearrangement in patients with balanced karyotype and provide the results of a detailed analysis of complex chromosomal rearrangement (CCR) involving three chromosomes and a small supernumerary marker chromosome (sSMC) in a patient with impaired reproductive function. The application of fluorescent in situ hybridization, microdissection, and multicolor banding allows for describing analyzed karyotypes in detail. In the case of a CCR, such as the one described here, the probability of gamete formation with a karyotype, showing a balance of chromosome regions, is extremely low. Recommendation for the family in genetic counseling should take into account the obtained result. In the case of an sSMC, it is critically important to identify the original chromosome from which the sSMC has been derived, even if the euchromatin material is absent. Finally, we present our view on the optimal strategy of identifying and describing sSMCs, namely the production of a microdissectional DNA probe from the sSMC combined with a consequent reverse painting.

scholarly journals Turner Syndrome, Uncommonly Diagnosed Cause of Short Stature: Case Report and Review of Literature

2013 ◽  
Vol 33 (1) ◽  
pp. 74-76
Author(s):  
S Basnet ◽  
A Eleena ◽  
AK Sharma
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Turner Syndrome ◽  
Age Estimation ◽  
Bone Age ◽  
Review Of Literature ◽  
X Ray ◽  
Dysmorphic Features ◽  
The Past ◽  
Hormone Analysis

Many children are frequently brought to the paediatric clinic for evaluation of short stature. Evaluation for these children does not go beyond x-ray for bone age estimation and growth hormone analysis. Most of them are considered having constitutional or genetic cause for their short stature. However, shuttle dysmorphic features could be missed in many of them. Hence, many children might be having chromosomal anomaly as an underlying cause. We report a case of 40 months who had been evaluated several times in the past for pneumonia, otitis media and short stature is finally diagnosed to have Turner syndrome. DOI: http://dx.doi.org/10.3126/jnps.v33i1.8174 J Nepal Paediatr Soc. 2013;33(1):74-76

Observing microscopic phases of lichen life cycles on transparent substrata placed in situ

2005 ◽  
Vol 37 (5) ◽  
pp. 373-382 ◽  
Author(s):  
William B. SANDERS
Keyword(s):  
Life Cycle ◽  
Developmental Stages ◽  
Life Cycles ◽  
Potential Significance ◽  
Free Living ◽  
Lichen Community ◽  
One Year ◽  
The One ◽  
Observation Period

The utility of plastic cover slips as a substratum for in situ study of lichen developmental stages is further explored in a neotropical foliicolous lichen community and in a European temperate corticolous community. Twenty-one months after placement in the tropical forest, the cover slips bore foliicolous lichen thalli with several species producing characteristic ascocarps and ascospores, indicating the suitability of the substratum for completion of the life cycle of these lichens. On cover slips placed within the temperate corticolous community, lichen propagules anchored to the substratum with relatively short attachment hyphae but did not develop further within the one year observation period. Intimately intermixed microbial communities of short-celled, mainly pigmented fungi and chlorophyte algae developed upon the transparent substratum. Among the algae, Trebouxia cells, often in groups showing cell division and without associated lichenizing hyphae, were commonly observed. The potential significance of the free-living populations in the life cycle of Trebouxia and in those of Trebouxia-associated lichen fungi is discussed.

A Domino Heck Coupling–Cyclization–Dehydrogenative Strategy for the One-Pot Synthesis of Quinolines

Synthesis ◽  
2021 ◽  
Author(s):  
Santanu Ghora ◽  
Chinnabattigalla Sreenivasulu ◽  
Gedu Satyanarayana
Keyword(s):  
Functional Group ◽  
Exchange Process ◽  
Palladium Catalysis ◽  
Allylic Alcohols ◽  
Heck Coupling ◽  
One Pot ◽  
Synthetic Process ◽  
Intramolecular Condensation ◽  
The One

AbstractAn efficient, one-pot, domino synthesis of quinolines via the coupling of iodoanilines with allylic alcohols facilitated by palladium catalysis is described. The overall synthetic process involves an intermolecular Heck coupling between 2-iodoanilines and allylic alcohols, intramolecular condensation of in situ generated ketones with an internal amine functional group, and a dehydrogenation sequence. Notably, this protocol occurs in water as a green solvent. Significantly, the method exhibits broad substrate scope and is applied for the synthesis of deuterated quinolines through a deuterium-exchange process.

Granular biomass capable of partial nitritation and anammox

2008 ◽  
Vol 58 (5) ◽  
pp. 1113-1120 ◽  
Author(s):  
S. E. Vlaeminck ◽  
L. F. F. Cloetens ◽  
M. Carballa ◽  
N. Boon ◽  
W. Verstraete
Keyword(s):  
Removal Rate ◽  
Batch Reactor ◽  
Ammonium Oxidation ◽  
Autotrophic Nitrification ◽  
Partial Nitritation ◽  
One Stage ◽  
Biomass Retention ◽  
Granular Biomass ◽  
The One

A novel and efficient way of removing nitrogen from wastewater poor in biodegradable organic carbon, is the combination of partial nitritation and anoxic ammonium oxidation (anammox), as in the one-stage oxygen-limited autotrophic nitrification/denitrification (OLAND) process. Since anoxic ammonium-oxidizing bacteria grow very slowly, maximum biomass retention in the reactor is required. In this study, a lab-scale sequencing batch reactor (SBR) was used to develop granular, rapidly settling biomass. With SBR cycles of one hour and a minimum biomass settling velocity of 0.7 m/h, OLAND granules were formed in 1.5 months and the nitrogen removal rate increased from 50 to 450 mg N L−1 d−1 in 2 months. The granules had a mean diameter of 1.8 mm and their aerobic and anoxic ammonium-oxidizing activities were well equilibrated to perform the OLAND reaction. Fluorescent in-situ hybridization (FISH) demonstrated the presence of both β-proteobacterial aerobic ammonium oxidizers and planctomycetes (among which anoxic ammonium oxidizers) in the granules. The presented results show the applicability of rapidly settling granular biomass for one-stage partial nitritation and anammox.

scholarly journals REVIEW OF DIAGNOSTIC OPPORTUNITIES FOR IMPROVEMENT OF DETECTION OF NON-MUSCLE INVASIVE BLADDER CANCER

InterConf ◽  
2021 ◽  
pp. 796-803
Author(s):  
Ivan Vladanov ◽  
Alexei Plesacov ◽  
Vitalii Ghicavii
Keyword(s):  
Bladder Cancer ◽  
Narrow Band Imaging ◽  
Imaging Techniques ◽  
Meta Analysis ◽  
Photodynamic Diagnosis ◽  
White Light Cystoscopy ◽  
Carcinoma Of The Bladder ◽  
Muscle Invasive ◽  
The One

Recently white light cystoscopy (WLC) is the standard method for detection of urothelial cell carcinoma of the bladder. Regarding the problem that on the one hand the sensitivity of WLC is not high enough, and on the other hand it can miss small ‘satellite’ tumors or carcinoma in situ (CIS), other techniques are used. Such techniques are the new imaging by photodynamic diagnosis (PDD) and narrow band imaging (NBI). The both techniques allow very accurate bladder cancer visualization. It is obviously very important to improve diagnostic accuracy and as consequence it increases the quality of resection. Regarding the meta-analysis of several studies, it can be concluded that the new imaging techniques should be applied for a more precise diagnostic, comparing with WLC. Further results of multicentric meta-analysis between these two techniques will stabilize their advantages for concrete clinical indications.

scholarly journals Time-resolved XRD experiments for a fine description of mechanisms induced during reactive sintering

2005 ◽  
Vol 37 (1) ◽  
pp. 27-34 ◽  
Author(s):  
S. Paris ◽  
E. Gaffet ◽  
D. Vrel ◽  
D. Thiaudiere ◽  
M. Gailhanou ◽  
...  
Keyword(s):  
Reactive Sintering ◽  
X Ray Diffraction ◽  
Reaction Parameters ◽  
Time Resolved ◽  
X Ray ◽  
Synthesis Conditions ◽  
Nanostructure Materials ◽  
Synchrotron Beam ◽  
The One

The control of Mechanically Activated Field Activated Pressure Assisted Synthesis hereafter called the MAFAPAS process is the main objective to be achieved for producing nanostructure materials with a controlled consolidation level. Consequently, it was essential to develop characterization tools "in situ" such as the Time Resolved X-ray Diffraction (TRXRD), with an X-ray synchrotron beam (H10, LURE Orsay) coupled to an infrared thermography to study simultaneously structural transformations and thermal evolutions. From the 2003 experiments, we took the opportunity to modify the sample-holder in order to reproduce the better synthesis conditions of the MAFAPAS process, but without the consolidation step. The versatility of the setup has been proved and could even be enhanced by the design of new sample holders. In addition, this work clearly shows that this equipment will allow, on the one hand, to make progress of the understanding of MAFAPAS mechanisms and, on the other hand, to adjust reaction parameters (mechanical activation and combustion synthesis) for producing many materials with an expected microstructure.

scholarly journals Hydraulic modeling of combined sewers overflow integrating the results of the SWMM and CFX models.

2021 ◽  
Vol 37 (1) ◽  
Author(s):  
D. Pulgarín ◽  
J. Plaza ◽  
J. Ruge ◽  
J. Rojas
Keyword(s):  
Three Dimensional ◽  
Hydraulic Modeling ◽  
Dimensional Model ◽  
Three Dimensional Model ◽  
One Dimensional ◽  
Ansys Cfx ◽  
Combined Sewer ◽  
The One ◽  
Swmm Model

This study proposes a methodology for the calibration of combined sewer overflow (CSO), incorporating the results of the three-dimensional ANSYS CFX model in the SWMM one-dimensional model. The procedure consists of constructing calibration curves in ANSYS CFX that relate the input flow to the CSO with the overflow, to then incorporate them into the SWMM model. The results obtained show that the behavior of the flow over the crest of the overflow weir varies in space and time. Therefore, the flow of entry to the CSO and the flow of excesses maintain a non-linear relationship, contrary to the results obtained in the one-dimensional model. However, the uncertainty associated with the idealization of flow methodologies in one dimension is reduced under the SWMM model with kinematic wave conditions and simulating CSO from curves obtained in ANSYS CFX. The result obtained facilitates the calibration of combined sewer networks for permanent or non-permanent flow conditions, by means of the construction of curves in a three-dimensional model, especially when the information collected in situ is limited.

Dilemmas in Prenatal Chromosomal Diagnosis Revealed Through a Single Center's 30 Years' Experience and 90,000 Cases

2015 ◽  
Vol 38 (3) ◽  
pp. 218-232 ◽  
Author(s):  
Christopher Konialis ◽  
Constantinos Pangalos ◽  
. InterGenetics
Keyword(s):  
Detection Rate ◽  
Chromosomal Abnormalities ◽  
Diagnostic Yield ◽  
Prenatal Testing ◽  
Minimal Invasive ◽  
Molecular Diagnostic ◽  
Comparative Genomic ◽  
High Detection Rate ◽  
Molecular Approaches ◽  
The One

Introduction: The aim of this article is to provide a perspective of prenatal chromosomal diagnosis (PCD) derived from a single center's evolving experience from ∼90,000 consecutive prenatal cases and to highlight important issues and current dilemmas. Materials and Methods: Prenatal cases in this study (1985-2013) were referred for various indications, and PCD was performed by standard karyotype in 84,255 cases, multiplex ligation-dependent probe amplification (MLPA) panel in 3,010 cases and standalone array comparative genomic hybridization (aCGH) in 3,122 cases. Results: Classic karyotype revealed 1.7 and 7.9% of pathological cases in amniotic fluid and CVS samples, respectively, with common aneuploidies accounting for 59.6 and 64.3% of the total abnormal. Molecular approaches increased the diagnostic yield by 0.6% for MLPA and 1.6% for aCGH, uncovering pathogenic chromosomal abnormalities undetectable by karyotype analysis. Conclusions: Current molecular diagnostic capabilities and the recent introduction of noninvasive prenatal testing (NIPT) point to one current major dilemma in PCD, with serious implications in genetic counseling, relating on the one hand to reaping the benefits from the high detection rate afforded through aCGH but accepting an invasive risk, and on the other hand, offering a lower detection rate practically only for Down syndrome, with minimal invasive risk.

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