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https://www.readbyqxmd.com/read/28924540/analysis-of-meiotic-segregation-patterns-and-interchromosomal-effects-in-sperm-from-13-robertsonian-translocations
#1
B Wang, B Nie, D Tang, R Li, X Liu, J Song, W Wang, Z Liu
The frequency of the Robertonian (ROB) translocation in newborn babies is approximately one in 1000. Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. The aim of the study was to analyze the segregation of the ROB translocations in 13 male carriers, and to verify a possible inter-chromosomal effect (ICE) of the ROB translocation on chromosomes 18, X, and Y. Thirteen male patients were included in the study. Multicolor fluorescent in situ hybridization (FISH) was used to analyze chromosomes 13, 14, 15, 21, 22, 18, X and Y in sperm...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28911960/characterization-of-the-adrenocorticotrophic-hormone-induced-mouse-model-of-resistance-to-antidepressant-drug-treatment
#2
Bettadapura N Srikumar, Mahesh Paschapur, Narasimharaju Kalidindi, Bharath Adepu, Manish L Das, Muppana V Sreedhara, Vijaya K Kuchibhotla, Rick L Pieschl, Yu-Wen Li, Durga Shiva Prasad Ega, Justin Louis, Senthilkumar Murugesan, Pattipati S Naidu, Manjunath Ramarao, Linda J Bristow, Reeba K Vikramadithyan
Approximately 30-60% of patients treated with existing antidepressants fail to achieve remission of depressive symptoms leading to Treatment Resistant Depression (TRD). There is an urgent need to develop novel medications, which is highly limited by the non-availability of relevant animal models with good predictive validity. ACTH administration has been shown to result in the resistance to acute and chronic effects of imipramine. However, the pharmacology of the model and the mechanisms contributing to the resistance are not completely understood...
September 11, 2017: Pharmacology, Biochemistry, and Behavior
https://www.readbyqxmd.com/read/28894557/clinico-pathological-spectrum-and-novel-karyotypic-findings-in-myelodysplastic-syndrome-experience-of-tertiary-care-center-in-india
#3
Ruchi Gupta, Khaliqur Rahman, Manish Kumar Singh, Surabhi Kumari, Geeta Yadav, Soniya Nityanand
BACKGROUND: Myelodysplastic syndrome (MDS) is a heterogeneous disorder characterized clinically by the presence of cytopenia/s. Limited data are available about the morphological spectrum and cytogenetic profile of Indian MDS patients. The aim of the study was to ascertain the clinico-pathological, morphological and cytogenetic spectrum of Indian MDS patients. MATERIAL AND METHODS: A retrospective analysis of all patients diagnosed with MDS from June 2012 to December 2016 was performed...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28892645/self-assembling-peptide-p11-4-and-fluoride-for-regenerating-enamel
#4
M Alkilzy, A Tarabaih, R M Santamaria, C H Splieth
Regenerative medicine-based approaches for caries treatment focus on biomimetic remineralization of initial carious lesions as a minimal invasive therapy. In vitro, self-assembling peptide P11-4 enhances remineralization of early carious lesions. To investigate the safety and clinical efficacy of P11-4 for treatment of initial caries, a randomized controlled single-blind study was conducted on children aged >5 y with visible active early caries on erupting permanent molars. Subjects were randomized to either the test group (P11-4 + fluoride varnish) or control group (fluoride varnish alone)...
September 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28868637/clinical-performance-of-self-assembling-peptide-p11-4-in-the-treatment-of-initial-proximal-carious-lesions-a-practice-based-case-series
#5
Markus Schlee, Till Schad, Jan H Koch, Philippe C Cattin, Florian Rathe
AIM: The aim of the present study was to investigate the clinical performance of self-assembling peptide P11 -4 on non-cavitated initial proximal carious lesions 12 months after treatment. METHODS: Twenty-six patients, aged between 18 and 65 years, with 35 carious lesions were included in this practice-based, uncontrolled, prospective case series. The opacity and size of the proximal lesions were evaluated visually at baseline and at day 360 using standardized single-tooth or bite-wing and digital-subtraction radiography...
September 3, 2017: Journal of Investigative and Clinical Dentistry
https://www.readbyqxmd.com/read/28857645/distinct-modifications-of-hippocampal-glucocorticoid-receptor-phosphorylation-and-fkbps-by-lipopolysaccharide-in-depressive-female-and-male-rats
#6
Zeljka Brkic, Ester Francija, Zorica Petrovic, Dusanka Franic, Iva Lukic, Milos Mitic, Miroslav Adzic
Inflammation plays a critical role in pathogenesis of depression and can affect the hypothalamic-pituitary-adrenal axis activity. Accordingly, in this study we investigated the role of hippocampal glucocorticoid receptor in mediating the effects of inflammation on behaviour of female and male Wistar rats. We studied the effects of lipopolysaccharide on the levels of glucocorticoid receptors and its co-chaperones FK506 binding protein 52 and FK506 binding protein 51, the levels of glucocorticoid receptor phospho-isoforms, pGR-232 and pGR-246, and glucocorticoid receptor up-stream kinases...
August 1, 2017: Journal of Psychopharmacology
https://www.readbyqxmd.com/read/28842431/testicular-cells-exhibit-similar-molecular-responses-to-cigarette-smoke-condensate-ex-vivo-and-in-vivo
#7
Prabagaran Esakky, Deborah A Hansen, Andrea M Drury, Paul Felder, Andrew Cusumano, Kelle H Moley
Male exposure to cigarette smoke is associated with seminal defects and with congenital anomalies and childhood cancers in offspring. In mice, paternal exposure to cigarette smoke condensate (CSC) causes molecular defects in germ cells and phenotypic effects in their offspring. Here we used an ex vivo testicular explant model and in vivo exposure to determine the concentration at which CSC impairs spermatogenesis and offspring development. We explanted testis tissue at postnatal day (P)5.5 and cultured it until P11...
August 24, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28829357/peritoneal-mesothelioma-with-residential-asbestos-exposure-report-of-a-case-with-long-survival-seventeen-years-analyzed-by-cgh-array
#8
Gabriella Serio, Federica Pezzuto, Andrea Marzullo, Anna Scattone, Domenica Cavone, Alessandra Punzi, Francesco Fortarezza, Mattia Gentile, Antonia Lucia Buonadonna, Mattia Barbareschi, Luigi Vimercati
Malignant mesothelioma is a rare and aggressive tumor with limited therapeutic options. We report a case of a malignant peritoneal mesothelioma (MPM) epithelioid type, with environmental asbestos exposure, in a 36-year-old man, with a long survival (17 years). The patient received standard treatment which included cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC). METHODS AND RESULTS: Molecular analysis with comparative genomic hybridization (CGH)-array was performed on paraffin-embedded tumoral samples...
August 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28811181/beneficial-effects-of-postnatal-choline-supplementation-on-long-term-neurocognitive-deficit-resulting-from-fetal-neonatal-iron-deficiency
#9
Bruce C Kennedy, Phu V Tran, Maulika Kohli, Jamie J Maertens, Jonathan C Gewirtz, Michael K Georgieff
Early-life iron deficiency is a common nutrient condition worldwide and can result in cognitive impairment in adulthood despite iron treatment. In rodents, prenatal choline supplementation can diminish long-term hippocampal gene dysregulation and neurocognitive deficits caused by iron deficiency. Since fetal iron status is generally unknown in humans, we determined whether postnatal choline supplementation exerts similar beneficial effects. Male rat pups were made iron deficient (ID) by providing pregnant and nursing dams an ID diet (3-6ppm Fe) from gestational day (G) 3 through postnatal day (P) 7, and an iron-sufficient (IS) diet (200ppm Fe) thereafter...
August 12, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28794908/unusual-de-novo-partial-trisomy-17p12p11-2-due-to-unbalanced-insertion-into-5p13-1-in-a-severely-affected-boy
#10
Luis Alberto Mendez-Rosado, Araceli Lantigua, Juan Galarza, Ahmed B Hamid Al-Rikabi, Monika Ziegler, Thomas Liehr
Gain of copy numbers can be due to different chromosomal rearrangements such as direct or indirect duplications, translocations, small supernumerary marker chromosomes, or insertions. In a 3-year-old boy with dysmorphic features and developmental delay, chromosome analyses revealed a derivative chromosome 5. Microdissection and reverse fluorescence in situ hybridization identified the in 5p13.1 inserted part as 17p12-p11.2 material. Thus the patient suffered from a rare combination of genomic disorder, that is, Charcot-Marie-Tooth disease type 1A and Potocki-Lupski syndrome...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794862/case-report-an-incidentaloma-that-catches-your-eye-adrenal-myelolipoma
#11
Rosanna D'Addosio, Joselyn Rojas, Valmore Bermúdez, Flor Ledesma, Kyle Hoedebecke
Background: Adrenal incidentaloma refers to the incidental finding of a tumor in the adrenal gland, where nonfunctional forms are the most common variant. Myelolipoma is a rare (0.08-0.4%) occurrence characterized by adipose and hematopoietic tissue. The aim of this case report is to describe the diagnosis and appropriate management of a myelolipoma in an asymptomatic patient, which was originally considered an incidental hepatic hemangioma prior to being identified as a giant adrenal adenoma. Case description: The patient was a 54 year old obese female with a recent diagnosis of diabetes type II and dyslipidemia with recent ultrasound imaging suggestive of a hepatic hemangioma...
2017: F1000Research
https://www.readbyqxmd.com/read/28790892/a-critical-period-for-the-rapid-modification-of-synaptic-properties-at-the-vpm-relay-synapse
#12
Libiao Pan, Junhua Yang, Qian Yang, Xiaomeng Wang, Liya Zhu, Yali Liu, Huifang Lou, Chou Xu, Ying Shen, Hao Wang
In addition to cortical areas, the thalamus also displays plasticity during a critical period in early life. Since most sensory information is transmitted to the cortex via the thalamus, it will be of significant interest to understand the precise time window and underlying mechanisms of this critical period in the thalamus. By using in vitro whole-cell patch recording in acute brain slices, we found that VPm relay synapses were only sensitive to whisker deprivation from postnatal day 11 (P11) to P14. Whisker deprivation initiated within the P11 to P14 window significantly reduced the amplitude of AMPAR-EPSCs, but not NMDAR-EPSCs when recorded 24 h after whisker removal...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28777848/-phenotypic-and-genetic-analysis-of-four-patients-with-13q33-q34-microdeletion
#13
Huanhuan Wang, Bing Xiao, Xing Ji, Jingmin Zhang, Ying Cao, Lin Ni, Hui Ye, Lixiao Shen
OBJECTIVE: To explore the correlation between 13q33-q34 microdeletion and clinical phenotype. METHODS: Routine chromosomal banding was performed to analyze the karyotype, while array-based comparative genomic hybridization (aCGH array) and single nucleotide polymorphism array(SNP array) were employed to investigate the genome copy number variations. RESULTS: The karyotype of patient 1 was 46, XY, 9qh+,13qs. Patient 2 showed 46, XX, der (13)...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28772269/effects-of-self-assembling-peptide-p11-4-fluorides-and-caries-infiltration-on-artificial-enamel-caries-lesions-in-vitro
#14
Richard J Wierichs, Julian Kogel, Julian Lausch, Marcella Esteves-Oliveira, Hendrik Meyer-Lueckel
The application of a self-assembling peptide on noncavitated caries lesions is supposed to be a feasible approach to facilitate remineralization and mask their unfavorable appearance. However, demineralizing conditions are common in the oral environment, so the aim of this pH-cycling study was to compare recommended and novel treatment methods regarding their ability to hamper demineralization and as a consequence mask artificial enamel caries lesions. Artificial caries lesions were prepared in bovine enamel and randomly allocated to 11 groups (n = 22)...
August 4, 2017: Caries Research
https://www.readbyqxmd.com/read/28729940/propofol-induced-downregulation-of-nr2b-membrane-translocation-in-hippocampus-and-spatial-memory-deficits-of-neonatal-mice
#15
Yuzhu Wang, Song Han, Ruquan Han, Yue Su, Junfa Li
BACKGROUND: Thousands of infants and children are undergoing anesthesia around the world every day. But impacts of anesthetics on the developing neural system remain unclear yet. Previous evidence showed that anesthesia might affect the developing neural system. Thus, early-life anesthesia becomes a critical issue in clinical pediatric practice. Hence, propofol, a short-acting and widely applied intravenous anesthetic, has been gaining focus upon neonatal anesthesia. METHODS: Fifty-four male C57BL/6J mice were randomly divided into following three groups: group D6 intraperitoneally (i...
July 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28729116/convergence-of-glycogen-synthase-kinase-3%C3%AE-and-gr-signaling-in-response-to-fluoxetine-treatment-in-chronically-stressed-female-and-male-rats
#16
Milos Mitic, Zeljka Brkic, Iva Lukic, Miroslav Adzic
Accumulating evidence strongly suggest that impaired glucocorticoid receptor (GR) signaling is involved in stress-related mood disorders, and nominate GR as a potential target for antidepressants (ADs). It is known that different classes of ADs affects the GR action via modifying its phosphorylation, while the mechanism through which ADs alter GR phosphorylation targeted by GSK3β, a kinase modulated via serotonin neurotransmission, are unclear. On this basis, we investigated whether GSK3β-GR signaling could be a convergence point of fluoxetine action on brain function and behavior, by examining its effect on GSK3β targeted-GR phosphorylation on threonine 171 (pGR171), and expression of GR-regulated genes in the hippocampus of female and male rats exposed to chronic isolation stress...
July 17, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28726720/tgf-%C3%AE-dependent-growth-arrest-and-cell-migration-in-benign-and-malignant-breast-epithelial-cells-are-antagonistically-controlled-by-rac1-and-rac1b
#17
Catharina Melzer, Juliane von der Ohe, Ralf Hass, Hendrik Ungefroren
Despite improvements in diagnosis and treatment, breast cancer is still the most common cancer type among non-smoking females. TGF-β can inhibit breast cancer development by inducing cell cycle arrest in both, cancer cells and, as part of a senescence program in normal human mammary epithelial cells (HMEC). Moreover, TGF-β also drives cell migration and invasion, in part through the small GTPases Rac1 and Rac1b. Depletion of Rac1b or Rac1 and Rac1b in MDA-MB-231 or MDA-MB-435s breast cancer cells by RNA interference enhanced or suppressed, respectively, TGF-β1-induced migration/invasion...
July 20, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28721056/onset-of-chronic-myeloid-leukemia-with-complex-karyotype-in-a-pregnant-patient-case-report-and-revision-of-literature
#18
Nicola Sgherza, Elisabetta Abruzzese, Gianni Perla, Maria Marta Minervini, Vincenzo Chiello, Natale Sciannamè, Nicola Cascavilla
Approximately 10%-12% of patients in chronic-phase chronic myeloid leukemia (CP-CML) have additional chromosomal aberrations at diagnosis; moreover, CML occurs in up to 10% of pregnancy-associated leukemias, with an annual incidence of 1 per 100,000 pregnancies. In this report we describe the case of a 36-year-old female with CP-CML diagnosed in the 18th week of pregnancy and with a new complex variant translocation t(4;9;22;21)(q24;q34;q11;q22) and an additional chromosomal aberration t(1;20)(p36;p11). In consideration of her pregnancy, the patient strictly monitored her blood cell count without any specific treatment...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28692281/structural-and-biophysical-characterization-of-the-mycobacterium-tuberculosis-protein-rv0577-a-protein-associated-with-neutral-red-staining-of-virulent-tuberculosis-strains-and-homologue-of-the-streptomyces-coelicolor-protein-kbpa
#19
COMPARATIVE STUDY
Garry W Buchko, Nathaniel Echols, E Megan Flynn, Ho-Leung Ng, Samuel Stephenson, Heung-Bok Kim, Peter J Myler, Thomas C Terwilliger, Tom Alber, Chang-Yub Kim
Mycobacterium tuberculosis protein Rv0577 is a prominent antigen in tuberculosis patients, the component responsible for neutral red staining of virulent strains of M. tuberculosis, a putative component in a methylglyoxal detoxification pathway, and an agonist of toll-like receptor 2. It also has an amino acid sequence that is 36% identical to that of Streptomyces coelicolor AfsK-binding protein A (KbpA), a component in the complex secondary metabolite pathways in the Streptomyces genus. To gain insight into the biological function of Rv0577 and the family of KpbA kinase regulators, the crystal structure for Rv0577 was determined to a resolution of 1...
August 1, 2017: Biochemistry
https://www.readbyqxmd.com/read/28687198/neu-p11-a-novel-mt1-mt2-agonist-reverses-diabetes-by-suppressing-the-hypothalamic-pituitary-adrenal-axis-in-rats
#20
Jun Zhou, Jin Zhang, XiaoHong Luo, MaoXing Li, Ying Yue, Moshe Laudon, ZhengPing Jia, RuXue Zhang
Excessive glucocorticoid (GC) in type 2 diabetes mellitus (T2DM) reduces insulin sensitivity, impairs β-cell function, increases gluconeogenesis and glycogenolysis, impairs glucose uptake and metabolism, and reduces the insulinotropic effects of glucagon-like peptide 1. Melatonin, which serves as a physiological regulator of the hypothalamic-pituitary-adrenal (HPA) axis, has been suggested to have anti-diabetic effects. The objective of the present study was to investigate the effect of the MT1/MT2 melatonin agonist Neu-P11 on glucose and lipid metabolism in T2DM rats induced by a high fat diet combined with low doses of streptozotocin...
July 4, 2017: European Journal of Pharmacology
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