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https://www.readbyqxmd.com/read/28812997/distribution-of-fmr1-and-fmr2-repeats-in-argentinean-patients-with-primary-ovarian-insufficiency
#1
Lucía Daniela Espeche, Violeta Chiauzzi, Ianina Ferder, Mehrnoosh Arrar, Andrea Paula Solari, Carlos David Bruque, Marisol Delea, Susana Belli, Cecilia Soledad Fernández, Noemí Delia Buzzalino, Eduardo Hernán Charreau, Liliana Beatriz Dain
The premutation state of FMR1 (Fragile X Mental Retardation 1) has been associated with primary ovarian insufficiency (POI), and is the most common known genetic cause for 46,XX patients. Nevertheless, very few studies have analyzed its frequency in Latin American populations. Additionally, a relationship between alleles carrying a cryptic microdeletion in the 5'UTR of FMR2 and the onset of POI has only been studied in one population. Our aim was to analyze the incidence of FMR1 premutations and putative microdeletions in exon 1 of FMR2 in a cohort of Argentinean women with POI...
August 16, 2017: Genes
https://www.readbyqxmd.com/read/28807436/simple-and-efficient-knockdown-of-his-tagged-proteins-by-ternary-molecules-consisting-of-a-his-tag-ligand-a-ubiquitin-ligase-ligand-and-a-cell-penetrating-peptide
#2
Takayuki Hattori, Koyo Okitsu, Norikazu Yamazaki, Nobumichi Ohoka, Norihito Shibata, Takashi Misawa, Masaaki Kurihara, Yosuke Demizu, Mikihiko Naito
We designed and synthesized hybrid molecules for a protein knockdown method based on the recognition of a His-tag fused to a protein of interest (POI). The synthesized target protein degradation inducers contained three functional moieties: a His-tag ligand (nickel nitrilotriacetic acid [Ni-NTA]), an E3 ligand (bestatin [BS] or MV1), and a carrier peptide (Tat or nonaarginine [R9]). The designed hybrid molecules, BS-Tat-Ni-NTA, MV1-Tat-Ni-NTA, BS-R9-Ni-NTA, and MV1-R9-Ni-NTA, efficiently degraded His-tagged cellular retinoic acid binding protein 2 via the ubiquitin-proteasome system (UPS)...
August 2, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28794456/activated-nk-cells-cause-placental-dysfunction-and-miscarriages-in-fetal-alloimmune-thrombocytopenia
#3
Issaka Yougbaré, Wei-She Tai, Darko Zdravic, Brigitta Elaine Oswald, Sean Lang, Guangheng Zhu, Howard Leong-Poi, Dawei Qu, Lisa Yu, Caroline Dunk, Jianhong Zhang, John G Sled, Stephen J Lye, Jelena Brkić, Chun Peng, Petter Höglund, B Anne Croy, S Lee Adamson, Xiao-Yan Wen, Duncan J Stewart, John Freedman, Heyu Ni
Miscarriage and intrauterine growth restriction (IUGR) are devastating complications in fetal/neonatal alloimmune thrombocytopenia (FNAIT). We previously reported the mechanisms for bleeding diatheses, but it is unknown whether placental, decidual immune cells or other abnormalities at the maternal-fetal interface contribute to FNAIT. Here we show that maternal immune responses to fetal platelet antigens cause miscarriage and IUGR that are associated with vascular and immune pathologies in murine FNAIT models...
August 9, 2017: Nature Communications
https://www.readbyqxmd.com/read/28782660/evaluation-and-management-of-primary-ovarian-insufficiency-in-adolescents-and-young-adults
#4
Rula V Kanj, Nana Ama Ofei-Tenkorang, Mekibib Altaye, Catherine M Gordon
STUDY OBJECTIVE: To identify clinical features associated with primary ovarian insufficiency (POI) and collect data on the evaluation and treatment received. DESIGN: Retrospective chart review. Data abstracted on etiology of POI, history, laboratory evaluation, imaging results, return for clinical care, and treatment plans. SETTING: Urban children's hospital in Cincinnati, Ohio. PARTICIPANT: s: 50 females, age 11-26 years, with initial presentation of POI between January 1, 2006-December 31, 2015...
August 3, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28777402/long-term-outcomes-of-staged-basilic-vein-transposition-for-hemodialysis-access-in-children
#5
Elias Kfoury, Christopher J Demaree, Mun J Poi, Jesus M Matos, Carlos F Bechara, Peter H Lin
INTRODUCTION: Children requiring long-term hemodialysis often face significant challenges due to their young age and small-vessel caliber for arteriovenous (AV) access creation. In this study, we report our experience of staged basilic vein transposition (BVT) in pediatric patients. METHODS: All patients undergoing staged BVT at a tertiary care pediatric hospital from 2003 to 2015 were reviewed. Indications for staged BVT included inadequate cephalic conduit or failed AV fistula using cephalic vein...
July 29, 2017: Journal of Vascular Access
https://www.readbyqxmd.com/read/28760330/thermographic-analysis-of-the-effect-of-composite-type-layering-method-and-curing-light-on-the-temperature-rise-of-photo-cured-composites-in-tooth-cavities
#6
Min-Jung Kim, Ryan Jin-Young Kim, Jack Ferracane, In-Bog Lee
OBJECTIVES: The purpose of this study was to investigate temperature rise in the composite and dentin of a class I cavity in extracted human molars under different restoration conditions, including the use of different composite types, layering methods, and curing lights. METHODS: Open occlusal cavities were prepared on 28 extracted human molars. A conventional (Filtek Z250) and a bulk-fill (Filtek Bulk Fill Posterior; BFP) composite were used to restore the preparations...
July 28, 2017: Dental Materials: Official Publication of the Academy of Dental Materials
https://www.readbyqxmd.com/read/28753885/gastrointestinal-complications-following-radical-cystectomy-using-enhanced-recovery-protocol
#7
Soroush T Bazargani, Hooman Djaladat, Hamed Ahmadi, Gus Miranda, Jie Cai, Anne K Schuckman, Siamak Daneshmand
BACKGROUND: The development of enhanced recovery after surgery (ERAS) protocols for patients undergoing radical cystectomy (RC) represents a significant advance in perioperative care. OBJECTIVE: To evaluate gastrointestinal (GI) complications following RC and urinary diversion (UD) using our institutional ERAS protocol. DESIGN, SETTING, AND PARTICIPANTS: We identified 377 consecutive cases of open RC and UD for which our ERAS protocol was used from May 2012 to December 2015...
April 25, 2017: European Urology Focus
https://www.readbyqxmd.com/read/28746591/the-therapeutic-challenge-of-giant-splenic-artery-aneurysm-a-case-repport
#8
Paulo Kauffman, Antonio Luiz de Vasconcellos Macedo, Roberto Sacilotto, Adriano Tachibana, Sergio Kuzniec, Lucas Lembrança Pinheiro, Nelson Wolosker
Giant splenic artery aneurysm is a rare condition that represents an eminent life threatening for the patient, requiring, therefore, urgent surgical correction. A 61-year-old woman, former smoker, hypertensive, hypercholesterolemic and multipara sought our service because of a large tumor in the mesogastrium, which was an abdominal ultrasound finding. Despite the size of the tumor, the patient was asymptomatic. The angiotomography and the magnetic resonance image of the abdomen were suggestive of giant splenic artery aneurysm with more than 10cm in diameter that was confirmed by an angiography...
July 24, 2017: Einstein
https://www.readbyqxmd.com/read/28743519/the-molecular-complexity-of-primary-ovarian-insufficiency-aetiology-and-the-use-of-massively-parallel-sequencing
#9
REVIEW
Paul Laissue
Primary ovarian insufficiency (POI) is a frequently occurring pathology, leading to infertility. Genetic anomalies have been described in POI and mutations in numerous genes have been definitively related to the pathogenesis of the disease. Some studies based on next generation sequencing (NGS) have been successfully undertaken as they have led to identify new mutations associated with POI aetiology. The purpose of this review is to present the most relevant molecules involved in diverse complex pathways, which may contribute towards POI...
July 23, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28743298/r-spondin2-a-novel-target-of-nobox-identification-of-variants-in-a-cohort-of-women-with-primary-ovarian-insufficiency
#10
Justine Bouilly, Isabelle Beau, Sara Barraud, Valérie Bernard, Brigitte Delemer, Jacques Young, Nadine Binart
BACKGROUND: R-spondin2 (Rspo2) is a secreted agonist of the canonical Wnt/β-catenin signaling pathway. Rspo2 plays a key role in development of limbs, lungs and hair follicles, and more recently during ovarian follicle development. Rspo2 heterozygous deficient female mice become infertile around 4 months of age mimicking primary ovarian insufficiency (POI). The study aimed to investigate the regulation of RSPO2 and its potential involvement in pathophysiology of POI. METHODS: We cloned the RSPO2 promoter and performed transcriptional assays to determine if RSPO2 can be regulated by NOBOX, an ovarian transcription factor...
July 25, 2017: Journal of Ovarian Research
https://www.readbyqxmd.com/read/28733292/natural-history-of-autoimmune-primary-ovarian-insufficiency-in-patients-with-addison-s-disease-from-normal-ovary-function-to-overt-ovary-dysfunction
#11
Annamaria De Bellis, Giuseppe Bellastella, Alberto Falorni, Ernesto Aitella, Mariluce Barrasso, Maria Ida Maiorino, Elio Bizzarro, Antonio Bellastella, Dario Giugliano, Katherine Esposito
CONTEXT: Women with autoimmune Addison's disease with normally ovulatory cycles but positive for steroid cells antibodies (StCA) have been considered at risk of premature ovarian insufficiency (POI). DESIGN: Thirty-three women younger than 40 years, with subclinical-clinical Addison's disease but with normally ovulatory menses, were followed-up for 10 years to evaluate the long-term time-related variations of StCA, ovarian function and follicular reserve. All patients and 27 control women were investigated at start and every year for the presence and titer of StCA (by indirect immunofluorescence), serum concentrations of anti-Mullerian hormone (AMH) and ovarian function along four consecutive menses every year...
July 21, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28712309/improving-mirna-delivery-by-optimizing-mirna-expression-cassettes-in-diverse-virus-vectors
#12
Elena Herrera-Carrillo, Ying Poi Liu, Ben Berkhout
The RNA interference pathway is an evolutionary conserved post-transcriptional gene regulation mechanism that is exclusively triggered by double-stranded RNA inducers. RNAi-based methods and technologies have facilitated the discovery of many basic science findings and spurred the development of novel RNA therapeutics. Transient induction of RNAi via transfection of synthetic small interfering RNAs can trigger the selective knockdown of a target mRNA. For durable silencing of gene expression, either artificial short hairpin RNA or microRNA encoding transgene constructs were developed...
August 2017: Human Gene Therapy Methods
https://www.readbyqxmd.com/read/28699994/safe-surgery-validation-of-pre-and-postoperative-checklists
#13
Francine Taporosky Alpendre, Elaine Drehmer de Almeida Cruz, Ana Maria Dyniewicz, Maria de Fátima Mantovani, Ana Elisa Bauer de Camargo E Silva, Gabriela de Souza Dos Santos
Objective: to develop, evaluate and validate a surgical safety checklist for patients in the pre and postoperative periods in surgical hospitalization units. Method: methodological research carried out in a large public teaching hospital in the South of Brazil, with application of the principles of the Safe Surgery Saves Lives Programme of the World Health Organization. The checklist was applied to 16 nurses of 8 surgical units and submitted for validation by a group of eight experts using the Delphi method online...
July 10, 2017: Revista Latino-americana de Enfermagem
https://www.readbyqxmd.com/read/28689853/identification-of-patients-with-primary-ovarian-insufficiency-caused-by-autoimmunity
#14
Jing Gao, Xue Jiao, Yujie Dang, Jing Li, Guiyu Li, Ting Han, Yixun Liu, Yingying Qin, Zi-Jiang Chen
Autoimmune pathogenesis is responsible for a subset of primary ovarian insufficiency (POI) cases. The significance of autoantibodies for POI, however, remains unclear. A total of 250 women with idiopathic POI and 256 age-matched healthy women were enrolled. The presence in serum of adrenal cortex autoantibody (AAA), detected by indirect immunofluorescence and non-organ-specific antibodies, including antinuclear antibody, anti-cardiolipin antibody, and anti-double stranded DNA antibody, detected by enzyme-linked immunosorbent assay, was compared...
June 21, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28688373/deletion-of-rd-ink4-arf-enhancer-a-novel-mutation-to-inactivate-the-ink4-arf-locus
#15
REVIEW
Ming J Poi, Thomas J Knobloch, Junan Li
The presence of an enhancer element, RD(INK4/ARF) (RD), in the prominent INK4-ARF locus provides a novel en bloc mechanism to simultaneously regulate the transcription of the p15(INK4B) (p15), p16(INK4A) (p16), and p14(ARF) tumor suppressor genes. While genetic inactivation of p15, p16, and p14(ARF) in human cancers has been extensively studied, little is known about RD alteration and its potential contributions to cancer progression. In this review, we discuss recent developments in RD alteration and its association with p15, p16, and p14(ARF) alterations in human cancers, and demonstrate that RD deletion may represent a novel mechanism to simultaneously down-regulate p15, p16, and p14(ARF), thus promoting carcinogenesis...
June 24, 2017: DNA Repair
https://www.readbyqxmd.com/read/28681255/delayed-puberty-and-gonadal-failure-in-patients-with-hax1-mutation
#16
Sukru Cekic, Halil Saglam, Orhan Gorukmez, Tahsin Yakut, Omer Tarim, Sara S Kilic
PURPOSE: Homozygous mutations in the HAX1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN). There are limited data on cases of gonadal insufficiency that involve the HAX1 gene mutation. We aimed to evaluate the pubertal development and gonadal functions of our patients with a p.Trp44X mutation in the HAX1 gene. METHOD: Pubertal development, physical and laboratory findings of one male and seven female patients with HAX1 deficiency were evaluated...
July 5, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28660314/nicotine-chewing-gum-for-the-prevention-of-postoperative-ileus-after-colorectal-surgery-a-multicenter-double-blind-randomised-controlled-pilot-study
#17
Daniël P V Lambrichts, Geesien S A Boersema, Buket Tas, Zhouqiao Wu, Wietske W Vrijland, Gert-Jan Kleinrensink, Johannes Jeekel, Johan F Lange, Anand G Menon
PURPOSE: When postoperative ileus is not resolved after 5 days or recurs after resolution, prolonged POI (PPOI) is diagnosed. PPOI increases discomfort, morbidity and hospitalisation length, and is mainly caused by an inflammatory response following intestinal manipulation. This response can be weakened by targeting the cholinergic anti-inflammatory pathway, with nicotine as essential regulator. Chewing gum, already known to stimulate gastrointestinal motility itself, combined with nicotine is hypothesised to improve gastrointestinal recovery and prevent PPOI...
June 28, 2017: International Journal of Colorectal Disease
https://www.readbyqxmd.com/read/28658342/robotic-transversus-abdominis-release-tar-is-it-possible-to-offer-minimally-invasive-surgery-for-abdominal-wall-complex-defects
#18
Maria Vitória França DO Amaral, José Ricardo Guimarães, Paula Volpe, Flávio Malcher Martins DE Oliveira, Carlos Eduardo Domene, Sérgio Roll, Leandro Totti Cavazzola
We describe the preliminary national experience and the early results of the use of robotic surgery to perform the posterior separation of abdominal wall components by the Transversus Abdominis Release (TAR) technique for the correction of complex defects of the abdominal wall. We performed the procedures between 04/2/2015 and 06/15/2015 and the follow-up time was up to six months, with a minimum of two months. The mean surgical time was five hours and 40 minutes. Two patients required laparoscopic re-intervention, since one developed hernia by peritoneal migration of the mesh and one had mesh extrusion...
March 2017: Revista do Colégio Brasileiro de Cirurgiões
https://www.readbyqxmd.com/read/28656709/zingiberis-siccatum-rhizoma-the-active-component-of-the-kampo-formula-daikenchuto-induces-anti-inflammatory-actions-through-%C3%AE-7-nicotinic-acetylcholine-receptor-activation
#19
M Endo, M Hori, T Mihara, H Ozaki, T Oikawa, H Odaguchi, T Hanawa
BACKGROUND: We previously reported that Daikenchuto (DKT), a gastrointestinal prokinetic Japanese herbal (Kampo) medicine used for the treatment of postoperative ileus (POI), has characteristic potent anti-inflammatory activity. This effect may be partly mediated by the activation of α7 nicotinic acetylcholine receptor (nAChR). In this study, we identified the specific herbs in DKT that induce anti-inflammatory action. METHODS: The herbal components of DKT were individually administered orally to each mouse four times before and after intestinal manipulation (IM) was carried out on the distal ileum...
June 28, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28656338/risk-factors-for-prolonged-postoperative-ileus-after-laparoscopic-sphincter-saving-total-mesorectal-excision-for-rectal-cancer-an-analysis-of-428-consecutive-patients
#20
Elisabeth Hain, Léon Maggiori, Cécile Mongin, Justine Prost A la Denise, Yves Panis
BACKGROUND: Prolonged postoperative ileus (PPOI) is a common complication after colorectal resection but data regarding PPOI risk factors after laparoscopic rectal cancer surgery is lacking. This study aimed to identify risk factors for PPOI after laparoscopic sphincter-saving total mesorectal excision (TME) for cancer. METHODS: All patients who underwent a laparoscopic sphincter-saving TME for cancer from 2005 to 2014 were identified from our prospective database...
June 27, 2017: Surgical Endoscopy
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