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https://www.readbyqxmd.com/read/29783821/-clinical-and-genetic-analysis-of-eleven-pediatric-patients-with-alagille-syndrome
#1
L Guo, S T Zhao, Y Cheng, M Deng, H Li, Y Z Song, X R Cai, Q Zhou
Objective: To explore the clinical and molecular genetic features of patients with Alagille syndrome (AS). Methods: The clinical data of eleven pediatric patients, who were suspected to have AS at the Department of Pediatrics in the First Affiliated Hospital of Jinan University from August 2010 to March 2017, were collected and analyzed. Genomic DNA was extracted from peripheral blood leukocytes of the patients and their parents. For 5 patients collected before March 2006, all JAG1 exons and their flanking sequences were directly sequenced...
May 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29774977/a-novel-4q25-microdeletion-encompassing-pitx2-associated-with-rieger-syndrome
#2
Yi Yang, Xin Wang, Yuming Zhao, Man Qin
OBJECTIVE: Rieger syndrome (RS) is a genetic disorder characterized by abnormal development of the eyes, teeth, and umbilicus, and the paired like homeodomain 2 (PITX2) gene is often implicated in its pathogenesis. The present study aimed to identify the underlying genetic defect in a Chinese patient with RS. SUBJECTS AND METHODS: DNA samples were screened for PITX2 gene mutations and copy number variations (CNVs) using Sanger sequencing and quantitative genomic PCR analysis (qPCR)...
May 18, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29774275/comparative-economic-study-of-the-use-of-corifollitropin-alfa-and-daily-rfsh-for-controlled-ovarian-stimulation-in-older-patients-cost-minimization-analysis-based-on-the-pursue-study
#3
Gorka Barrenetxea, Juan Antonio García-Velasco, Belén Aragón, Jordi Osset, Max Brosa, Noemí López-Martínez, Buenaventura Coroleu
This study presents an economic assessment of controlled ovarian stimulation in assisted reproductive technology procedures in Spain, comparing the use of corifollitropin alfa and various forms of recombinant follicle-stimulating hormone (rFSH) in women of advanced maternal age. A cost-minimization analysis (CMA) was performed to assess the cost per cycle of controlled controlled ovarian stimulation, including only direct costs associated with the stimulation phase. The CMA was based on the population characteristics, the protocol, and the results obtained from the PURSUE study, taking into account 9 days of controlled controlled ovarian stimulation and 300 IU rFSH/day...
April 2018: Reproductive Biomedicine & Society Online
https://www.readbyqxmd.com/read/29771174/signaling-and-induction-of-chaperone-mediated-autophagy-by-the-endoplasmic-reticulum-under-stress-conditions
#4
Wenming Li, Qian Yang, Zixu Mao
Chaperone-mediated autophagy (CMA), a form of selective autophagy, maintains cellular proteostasis in response to diverse stress conditions. Whether and how endoplasmic reticulum (ER) stress triggers CMA remains elusive. In our recent study, we demonstrate that various types of ER stress activate the CMA pathway via an EIF2AK3/PERK-MAP2K4/MKK4-MAPK14/p38-dependent manner. We term this process ERICA for ER stress-induced chaperone-mediated autophagy. This pathway is activated in response to stress associated with Parkinson disease and is required for the viability of the SNc dopaminergic neurons in an animal model of Parkinson disease...
May 17, 2018: Autophagy
https://www.readbyqxmd.com/read/29771170/cgh-array-and-karyotype-as-complementary-tools-in-prenatal-diagnosis-prenatal-diagnosis-of-a-4q-derivative-chromosome-from-maternal-4q-11q-translocation
#5
Cristina Gonzalez, Miriam Gutierrez Serrano, Carmen Barbancho Lopez, Taida Garcia-Riaño, Vanesa Barea Calero, Rebeca Moreno Perea, Begoña Rodriguez Mogollón, Amelia Queipo Rojas, Ana Garcia Climent, Fernando Cava Valenciano
BACKGROUND: There is controversy whether chromosomal microarray (CMA) can replace karyotyping in prenatal diagnosis. Chromosomal microarray may detect more clinically significant chromosomal imbalances than karyotyping in a shorter time but does not detect inversions, triploidies or low mosaicisms. CASE REPORT: Amniocentesis was performed in the late second trimester based on ultrasound abnormalities. A CMA, obtained at 10 days, demonstrated a terminal deletion in 4q34...
May 17, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29770111/chronic-caffeine-treatment-protects-against-%C3%AE-synucleinopathy-by-reestablishing-autophagy-activity-in-the-mouse-striatum
#6
Yanan Luan, Xiangpeng Ren, Wu Zheng, Zhenhai Zeng, Yingzi Guo, Zhidong Hou, Wei Guo, Xingjun Chen, Fei Li, Jiang-Fan Chen
Despite converging epidemiological evidence for the inverse relationship of regular caffeine consumption and risk of developing Parkinson's disease (PD) with animal studies demonstrating protective effect of caffeine in various neurotoxin models of PD, whether caffeine can protect against mutant α-synuclein (α-Syn) A53T-induced neurotoxicity in intact animals has not been examined. Here, we determined the effect of chronic caffeine treatment using the α-Syn fibril model of PD by intra-striatal injection of preformed A53T α-Syn fibrils...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29767665/karyotype-and-genome-size-comparative-analyses-among-six-species-of-the-oilseed-bearing-genus-jatropha-euphorbiaceae
#7
Anne C T A Marinho, Santelmo Vasconcelos, Emanuelle V Vasconcelos, Daniela A Marques, Ana Maria Benko-Iseppon, Ana Christina Brasileiro-Vidal
Jatropha is an important genus of Euphorbiaceae, with species largely used for various purposes, including the manufacturing of soaps and pharmaceutical products and applications in the bioenergetic industry. Although there have been several studies focusing J. curcas in various aspects, the karyotype features of Jatropha species are poorly known. Therefore, we analyzed six Jatropha species through fluorochrome staining (CMA/DAPI), fluorescent in situ hybridization (FISH) with 5S and 45S rDNA probes and genome size estimation by flow cytometry...
May 14, 2018: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/29760529/de-novo-nonsense-mutation-in-whsc1-nsd2-in-patient-with-intellectual-disability-and-dysmorphic-features
#8
Ekaterina R Lozier, Fedor A Konovalov, Ilya V Kanivets, Denis V Pyankov, Philip A Koshkin, Larisa S Baleva, Alla E Sipyagina, Elena N Yakusheva, Anastasiya E Kuchina, Sergey A Korostelev
Intellectual disability is the most common developmental disorder caused by chromosomal aberrations as well as single-nucleotide variants (SNVs) and small insertions/deletions (indels). Here we report identification of a novel, probably pathogenic mutation in the WHSC1 gene in a patient case with phenotype overlapping the features of Wolf-Hirschhorn syndrome. Deletions involving WHSC1 (Wolf-Hirschhorn syndrome candidate 1 gene) were described earlier in patients with Wolf-Hirschhorn syndrome. However, to our knowledge, single-point mutations in WHSC1 associated with any intellectual deficiency syndromes have not been reported...
May 14, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29753935/identification-and-characterization-of-4-chloromethamphetamine-4-cma-in-seized-ecstacy-a-risk-to-public-health
#9
Peter Blanckaert, Stijn Vanquekelberghe, Vera Coopman, Martijn D P Risseeuw, Serge Van Calenbergh, Jan Cordonnier
This paper reports the structure elucidation and full characterization of 4-chloromethamphetamine (4-CMA), a compound which was never reported previously outside of laboratory settings in seized drug samples, or samples actively being used at large dance festivals. Identification of 4-CMA was obtained by liquid chromatography with diode array detector (HPLC-PDA) and gas chromatography mass spectrometry (GC-MS). Further structure elucidation was performed by fragment pattern analysis of the trimethylsilyl and trifluoroacetyl derivatives with GC-MS...
May 3, 2018: Forensic Science International
https://www.readbyqxmd.com/read/29753047/chromosomal-microarray-analysis-of-bulgarian-patients-with-epilepsy-and-intellectual-disability
#10
Valentina Peycheva, Kunka Kamenarova, Neviana Ivanova, Dimitar Stamatov, Daniela Avdjieva-Tzavella, Iliana Alexandrova, Sashka Zhelyazkova, Iliana Pacheva, Petya Dimova, Ivan Ivanov, Ivan Litvinenko, Veneta Bozhinova, Ivailo Tournev, Emil Simeonov, Vanyo Mitev, Albena Jordanova, Radka Kaneva
High resolution chromosomal microarray analysis (CMA) has facilitated the identification of small chromosomal rearrangements throughout the genome, associated with various neurodevelopmental phenotypes, including ID/DD. Recently, it became evident that intellectual disability (ID)/developmental delay (DD) can occur with associated co-morbidities like epileptic seizures, autism and additional congenital anomalies. These observations require whole genome approach in order to detect the genetic causes of these complex disorders...
May 9, 2018: Gene
https://www.readbyqxmd.com/read/29752043/application-of-molecular-cytogenetic-techniques-to-characterize-the-aberrant-y-chromosome-arising-de-novo-in-a-male-fetus-with-mosaic-45-x-and-solve-the-discrepancy-between-karyotyping-chromosome-microarray-and-multiplex-ligation-dependent-probe-amplification
#11
Shin-Yu Lin, Chien-Nan Lee, Ai-Ying Peng, Ti-Jia Yuan, Dong-Jay Lee, Wen-Hsiang Lin, Gwo-Chin Ma, Ming Chen
We present a rare male fetus with karyotype of mosaic 45,X that comprises two types of aberrant Y chromosomes arising de novo (Yq12 deletion and isodicentric Yq11.22). Both types of the aberrant Y chromosomes lack the AZFc region which are expected to result in oligospermia but unaffected male external genitalia. Genetic analyses by karyotyping, chromosome microarray (CMA), and multiplex ligation-dependent probe amplification (MLPA) for the fetus revealed conflicting results. Additional molecular cytogenetics tools including fluorescence in situ hybridization (FISH) and multicolor banding (mBAND) were performed, which help resolving the discrepancy and delineated the composition of the aberrant Y chromosomes...
May 8, 2018: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/29744066/characterization-of-two-familial-cases-presenting-with-a-syndromic-specific-learning-disorder-and-carrying-17q-21q-unbalanced-translocations
#12
Julie Coton, Audrey Labalme, Marianne Till, Gerald Bussy, Sonia Krifi Papoz, Gaetan Lesca, Delphine Heron, Damien Sanlaville, Patrick Edery, Vincent des Portes, Massimiliano Rossi
Chromosomal microarray (CMA) can detect pathogenic copy number variations in 15-20% of individuals with intellectual disability and in 10% of patients with autism spectrum disorders. The diagnostic rate in specific learning disorders (SLD) is unknown. Our study emphasizes the usefulness of CMA in the diagnostic workout assessment of familial SLD.
May 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29740062/the-contribution-of-microglia-to-early-synaptic-compensatory-responses-that-precede-%C3%AE-amyloid-induced-neuronal-death
#13
Sara Merlo, Simona Federica Spampinato, Martina Beneventano, Maria Angela Sortino
Glial-neuronal cross-talk has a critical role in the development of neurodegenerative conditions, including Alzheimer's Disease, where it affects neuronal responses to β-amyloid peptide (Aβ)-induced toxicity. We set out to identify factors regulating synaptic responses to Aβ, dissecting the specific role of glial signaling. A low concentration of aggregated Aβ42 induced selective up-regulation of mature brain-derived neurotrophic factor (BDNF) expression and release in rat organotypic hippocampal cultures as well as in cortical pure microglia...
May 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29739732/inherited-deletion-of-1q-hyperparathyroidism-and-signs-of-y-chromosomal-influence-in-a-patient-with-turner-syndrome
#14
Alejandro F Siller, Alex Shimony, Marwan Shinawi, Ina Amarillo, Louis P Dehner, Katherine Semenkovich, Ana María Arbeláez
We report a detailed phenotypic, cytogenetic, and molecular characterization of a patient diagnosed prenatally with Turner syndrome (TS). In addition to having typical TS clinical characteristics such as a webbed neck, high arched palate, and coarctation of the aorta, the patient had features less frequently seen in TS, including recurrent parathyroid adenomas, growth along the 75th-90th centiles on the TS height curve despite a minimal treatment with growth hormone, behavioral problems, and evidence of gonadal dysgenesis with testicular-like structures, such as seminiferous tubules lined by Sertoli cells and a contiguous nodule of Leydig cells...
May 9, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29737065/-clinical-application-assessment-of-karyolite-bobs-combined-with-qf-pcr-in-the-detection-of-products-of-conception
#15
Hang Su, Hong-Mei Zhu, Ling-Ping Li, Ze Du, Yang Zeng, Ting Hu, Zhu Zhang, Shan-Ling Liu, He Wang
OBJECTIVE: To assess the accuracy and discuss the feasibility of KaryoLite bacterial artificial chromosome on beads (KL-BoBs) and quantitative fluorescent polymerase chain reaction (QF-PCR) in genetic testing of products of conception (POC) by comparing with the chromosomal microarray analysis (CMA) test results. METHODS: Eighty-one cases of abortion samples were collected in the prenatal diagnosis center of West China Second University Hospital in Sichuan University from May to August 2016,including 61 cases of placenta tissues,19 cases of fetal muscle tissues and 1 case of fetal liver tissue...
March 2018: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/29735538/cma-position-against-separate-regulations-for-medical-cannabis-draws-ire-and-insults
#16
Brian Owens
No abstract text is available yet for this article.
May 7, 2018: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/29732363/human-milk-oligosaccharides-and-associations-with-immune-mediated-disease-and-infection-in-childhood-a-systematic-review
#17
Alice M Doherty, Caroline J Lodge, Shyamali C Dharmage, Xin Dai, Lars Bode, Adrian J Lowe
Complex sugars found in breastmilk, human milk oligosaccharides (HMOs), may assist in early-life immune programming and prevention against infectious diseases. This study aimed to systematically review the associations between maternal levels of HMOs and development of immune-mediated or infectious diseases in the offspring. PubMed and EMBASE databases were searched (last search on 22 February 2018) according to a predetermined search strategy. Original studies published in English examining the effect of HMOs on immune-mediated and infectious disease were eligible for inclusion...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29726617/copy-number-variant-analysis-using-genome-wide-mate-pair-sequencing
#18
James B Smadbeck, Sarah H Johnson, Stephanie A Smoley, Athanasios Gaitatzes, Travis M Drucker, Roman M Zenka, Farhad Kosari, Stephen J Murphy, Nicole Hoppman, Umut Aypar, William R Sukov, Robert B Jenkins, Hutton M Kearney, Andrew L Feldman, George Vasmatzis
Copy number variation (CNV) is a common form of structural variation detected in human genomes, occurring as both constitutional and somatic events. Cytogenetic techniques like chromosomal microarray (CMA) are widely used in analyzing CNVs. However, CMA techniques cannot resolve the full nature of these structural variations (i.e. the orientation and location of associated breakpoint junctions) and must be combined with other cytogenetic techniques, such as karyotyping or FISH, to do so. This makes the development of a next-generation sequencing (NGS) approach capable of resolving both CNVs and breakpoint junctions desirable...
May 4, 2018: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29721507/cytogenomic-integrative-network-analysis-of-the-critical-region-associated-with-wolf-hirschhorn-syndrome
#19
Thiago Corrêa, Rafaella Mergener, Júlio César Loguercio Leite, Marcial Francis Galera, Lilia Maria de Azevedo Moreira, José Eduardo Vargas, Mariluce Riegel
Deletions in the 4p16.3 region are associated with Wolf-Hirschhorn syndrome (WHS), a contiguous gene deletion syndrome involving variable size deletions. In this study, we perform a cytogenomic integrative analysis combining classical cytogenetic methods, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), and systems biology strategies, to establish the cytogenomic profile involving the 4p16.3 critical region and suggest WHS-related intracellular cell signaling cascades. The cytogenetic and clinical patient profiles were evaluated...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29705246/profilin-mediated-food-allergic-reactions-are-associated-with-oral-epithelial-remodeling
#20
Domenico Rosace, Cristina Gomez-Casado, Paloma Fernandez, Marina Pérez Gordo, María Del Carmen Dominguez, Angel Vega, María Teresa Belver, Tania Ramos, Francisco Vega, Guadalupe Marco, Manuel de Pedro, Leticia Sanchez, María de Las Mercedes Arnas, Marcela Santaolalla, Miguel Ángel Saez, Sara Benedé, Montserrat Fernandez-Rivas, Carlos Blanco, Maria Isabel Alvarado, María M Escribese, Domingo Barber
BACKGROUND: In areas of high exposure to grass pollen, allergic patients are frequently sensitized to profilin, and some develop severe profilin-mediated food reactions. This specific population of patients is ideal to study the relationship between respiratory and food allergies. OBJECTIVE: To determine the role of oral mucosa epithelial barrier integrity in profilin-mediated allergic reactions. METHODS: 38 profilin-allergic patients, stratified into mild or severe according to their clinical history and response to profilin challenge test, together with 6 non-allergic subjects were recruited...
April 26, 2018: Journal of Allergy and Clinical Immunology
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