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https://www.readbyqxmd.com/read/28447499/is-pre-implantation-genetic-diagnosis-pgd-more-of-a-strain-regarding-satisfaction-with-marital-quality-for-male-or-female-partners-a-three-year-follow-up-study
#1
Stina Järvholm, Ann Thurin-Kjellberg, Malin Broberg
INTRODUCTION: Men and women with a hereditary genetic disease are faced with different options when they plan to become parents. One is pre-implantation genetic diagnosis (PGD) which is a combination of in vitro fertilization (IVF) and genetic analysis of the embryo before implantation. The present study focuses on how men and women planning for PGD experience the quality of marital satisfaction when they apply for treatment and again, three years later. METHODS: The study was a prospective cohort study where all couples (n = 22) applying for PGD during 2010 and 2011 were eligible...
April 27, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28446182/improving-preimplantation-genetic-diagnosis-pgd-reliability-by-selection-of-sperm-donor-with-the-most-informative-haplotype
#2
Mira Malcov, Veronica Gold, Sagit Peleg, Tsvia Frumkin, Foad Azem, Ami Amit, Dalit Ben-Yosef, Yuval Yaron, Adi Reches, Shimi Barda, Sandra E Kleiman, Leah Yogev, Ron Hauser
BACKGROUND: The study is aimed to describe a novel strategy that increases the accuracy and reliability of PGD in patients using sperm donation by pre-selecting the donor whose haplotype does not overlap the carrier's one. METHODS: A panel of 4-9 informative polymorphic markers, flanking the mutation in carriers of autosomal dominant/X-linked disorders, was tested in DNA of sperm donors before PGD. Whenever the lengths of donors' repeats overlapped those of the women, additional donors' DNA samples were analyzed...
April 26, 2017: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/28445779/the-acute-cardiorespiratory-effects-of-centrally-injected-arachidonic-acid-the-mediation-of-prostaglandin-e-d-and-f2%C3%AE
#3
Leman Gizem Erkan, Burcin Altinbas, Gokcen Guvenc, Begum Aydin, Nasir Niaz, Murat Yalcin
Arachidonic acid (AA), which is released from synaptic membrane phospholipid by neuroreceptor-initiated activation of phospholipase A2, is abundant in the brain and works as a neurotransmitter and/or neuromodulator in the central nervous system. Recently we reported that centrally injected AA generated pressor and hyperventilation effects by activating thromboxane A2 (TXA2) signaling pathway. The present study was designed to investigate the mediation of other metabolites of AA such as prostaglandin (PG) D, PGE and PGF2α alongside TXA2 in the AA-evoked cardiorespiratory effects in anaesthetized rats...
April 23, 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/28445631/treating-prolonged-grief-disorder-a-2-year-follow-up-of-a-randomized-controlled-trial
#4
Richard A Bryant, Lucy Kenny, Amy Joscelyne, Natasha Rawson, Fiona Maccallum, Catherine Cahill, Sally Hopwood, Angela Nickerson
BACKGROUND: Prolonged grief disorder (PGD) causes significant impairment in approximately 7% of bereaved people. Although cognitive-behavioral therapy (CBT) has been shown to effectively treat PGD, there is no evidence of long-term effects of CBT. OBJECTIVE: To determine the long-term efficacies of CBT with exposure or CBT without exposure in treating PGD by assessing outcome at 2 years. METHODS: A randomized controlled trial of PGD patients (N = 80) attending an outpatient clinic took place between September 2007 and June 2010, and a 2-year follow-up occurred between December 2009 and October 2012...
April 25, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28445210/perceived-discrimination-and-longitudinal-change-in-kidney-function-among-urban-adults
#5
May A Beydoun, Angedith Poggi-Burke, Alan B Zonderman, Ola S Rostant, Michele K Evans, Deidra C Crews
OBJECTIVE: Perceived discrimination has been associated with psychosocial distress and adverse health outcomes. We examined associations of perceived discrimination measures with changes in kidney function in a prospective cohort study, the Healthy Aging in Neighborhoods of Diversity Across the LifeSpan. METHODS: Our study included 1,620 participants with preserved baseline kidney function (estimated glomerular filtration rate (eGFR) ≥60 ml/min/1.73m) (662 Whites and 958 African-Americans (AA), aged 30-64 years)...
April 26, 2017: Psychosomatic Medicine
https://www.readbyqxmd.com/read/28434637/clinical-heterogeneity-in-children-with-gonadal-dysgenesis-associated-with-non-mosaic-46-xy-karyotype
#6
Y S Wong, Y H Tam, K K Y Pang, K F To, S S C Chan, K W Chan, K H Lee
INTRODUCTION: Gonadal dysgenesis is unique in disorders of sex development (DSD), in that it can be associated with 46,XX, 46,XY or mosaic 45,X/46,XY karyotypes. Gonadal dysgenesis can be partial or complete. Gonadal dysgenesis associated with the Y-chromosome has increased risk of gonadal germ cell neoplasms. Most of the literature focus on 45,X/46,XY gonadal dysgenesis, while there are scanty data on the condition when the karyotype is non-mosaic 46,XY. OBJECTIVE: To investigate the diversity of clinical pictures of children presenting with 46,XY DSD due to gonadal dysgenesis...
April 10, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28433375/mosaicism-between-trophectoderm-and-inner-cell-mass
#7
REVIEW
Antonio Capalbo, Laura Rienzi
Defining the actual incidence and prevalence of mosaicism in human blastocysts still remains a difficult task. The small amount of evidence generated by animal and human studies does not support the existence of mechanisms involved in developmental arrest, clonal depletion, or aneuploidy rescue for abnormal cells in euploid/aneuploid embryos during preimplantation development. However, studies in humans are mainly descriptive and lack functional evidence. Understanding the biological mechanisms that beset preimplantation differentiation holds the potential to reveal the role of aneuploidies and gene dosage imbalances in cell fate decision, providing important clues on the origin and evolution of embryonic mosaicism...
April 19, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28433373/preimplantation-genetic-diagnosis-for-aneuploidy-testing-in-women-older-than-44-years-a-multicenter-experience
#8
Filippo Maria Ubaldi, Danilo Cimadomo, Antonio Capalbo, Alberto Vaiarelli, Laura Buffo, Elisabetta Trabucco, Susanna Ferrero, Elena Albani, Laura Rienzi, Paolo E Levi Setti
OBJECTIVE: To report laboratory and clinical outcomes in preimplantation genetic diagnosis for aneuploidies (PGD-A) cycles for women 44 to 47 years old. DESIGN: Multicenter, longitudinal, observational study. SETTING: In vitro fertilization (IVF) centers. PATIENT(S): One hundred and thirty-seven women aged 44.7 ± 0.7 years (range: 44.0-46.7) undergoing 150 PGD-A cycles during April 2013 to January 2016. INTERVENTION(S): Quantitative polymerase chain reaction-based PGD-A on trophectoderm biopsies and cryopreserved euploid single-embryo transfer (SET)...
April 19, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28433371/in%C3%A2-vitro-fertilization-with-preimplantation-genetic-diagnosis-for-aneuploidies-in-advanced-maternal-age-a-randomized-controlled-study
#9
Carmen Rubio, José Bellver, Lorena Rodrigo, Gema Castillón, Alfredo Guillén, Carmina Vidal, Juan Giles, Marcos Ferrando, Sergio Cabanillas, José Remohí, Antonio Pellicer, Carlos Simón
OBJECTIVE: To determine the clinical value of preimplantation genetic diagnosis for aneuploidy screening (PGD-A) in women of advanced maternal age (AMA; between 38 and 41 years). DESIGN: This was a multicenter, randomized trial with two arms: a PGD-A group with blastocyst transfer, and a control group with blastocyst transfer without PGD-A. SETTING: Private reproductive centers. PATIENT(S): A total of 326 recruited patients fit the inclusion criteria, and 205 completed the study (100 in the PGD-A group and 105 in the control group)...
April 19, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28433370/assessing-the-true-incidence-of-mosaicism-in-preimplantation-embryos
#10
REVIEW
Maria Vera-Rodriguez, Carmen Rubio
Modern technologies applied to the field of preimplantation genetic diagnosis for aneuploidy screening (PGD-A) have improved the ability to identify the presence of mosaicism. Consequently, new questions can now be addressed regarding the potential impact of embryo mosaicism on diagnosis accuracy and the feasibility of considering mosaic embryos for transfer. The frequency of chromosomal mosaicism in products of conception (POCs) of early miscarriages has been reported to be low. Mosaic embryos with an aneuploid inner cell mass are typically lost during the first trimester owing to spontaneous miscarriages...
April 19, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28431981/ventricular-assist-device-elicits-serum-natural-igg-that-correlates-with-the-development-of-primary-graft-dysfunction-following-heart-transplantation
#11
Sarah B See, Kevin J Clerkin, Peter J Kennel, Feifan Zhang, Matthew P Weber, Kortney J Rogers, Debanjana Chatterjee, Elena R Vasilescu, George Vlad, Yoshifumi Naka, Susan W Restaino, Maryjane A Farr, Veli K Topkara, Paolo C Colombo, Donna M Mancini, P Christian Schulze, Bruce Levin, Emmanuel Zorn
BACKGROUND: Pre-transplant sensitization is a limiting factor in solid-organ transplantation. In heart transplants, ventricular assist device (VAD) implantation has been associated with sensitization to human leukocyte antigens (HLA). The effect of VAD on non-HLA antibodies is unclear. We have previously shown that polyreactive natural antibodies (Nabs) contribute to pre-sensitization in kidney allograft recipients. Here we assessed generation of Nabs after VAD implantation in pre-transplant sera and examined their contribution to cardiac allograft outcome...
March 24, 2017: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/28428361/single-tube-dodecaplex-pcr-panel-of-polymorphic-microsatellite-markers-closely-linked-to-the-dmpk-ctg-repeat-for-preimplantation-genetic-diagnosis-of-myotonic-dystrophy-type-1
#12
Mulias Lian, Mingjue Zhao, Caroline G Lee, Samuel S Chong
BACKGROUND: Preimplantation genetic diagnosis (PGD) of myotonic dystrophy type 1 (DM1) currently uses conventional PCR to detect nonexpanded dystrophia myotonica protein kinase (DMPK) alleles or triplet-primed PCR to detect the CTG-expanded alleles, coupled with analysis of linked microsatellite markers to increase diagnostic accuracy. We aimed to simplify the process of identification and selection of informative linked markers for application to DM1 PGD. METHODS: An in silico search was performed to identify all markers within 1-1...
April 20, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28423959/diabetic-pregnancy-maternal-and-fetal-docosahexaenoic-acid-a-review-of-existing-evidence
#13
Pauline Léveillé, Clémence Rouxel, Mélanie Plourde
OBJECTIVE: Docosahexaenoic acid (DHA) is vital for fetal development especially during the third trimester of gestation when the speed of fetal brain growth is at its peak. Diabetes modifies the maternal fatty acid profile, which may in turn change the quantity and/or quality of lipids transferred to the fetus. Neonates born to diabetic mothers might be more vulnerable to DHA deficiency leading to lower cognitive scores together with lower overall intellectual quotients when compared to control...
April 19, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28401070/simple-and-easy-to-perform-preimplantation-genetic-diagnosis-for-%C3%AE-thalassemia-major-using-combination-of-conventional-and-fluorescent-polymerase-chain-reaction
#14
Rasoul Salehi, Sharifeh Khosravi, Mansour Salehi, Majid Kheirollahi, Hossein Khanahmad
BACKGROUND: Thalassemias are the most common monogenic disorders in many countries throughout the world. The best practice to control the prevalence of the disease is prenatal diagnosis (PND) services. Extensive practicing of PND proved effective in reducing new cases but on the other side of this success high abortion rate is hided, which ethically unfair and for many couples, especially with a previous experience of a therapeutic abortion, or moral concerns, is not a suitable choice...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28396725/three-dimensional-radiation-dosimetry-using-polymer-gel-and-solid-radiochromic-polymer-from-basics-to-clinical-applications
#15
REVIEW
Yoichi Watanabe, Leighton Warmington, N Gopishankar
Accurate dose measurement tools are needed to evaluate the radiation dose delivered to patients by using modern and sophisticated radiation therapy techniques. However, the adequate tools which enable us to directly measure the dose distributions in three-dimensional (3D) space are not commonly available. One such 3D dose measurement device is the polymer-based dosimeter, which changes the material property in response to radiation. These are available in the gel form as polymer gel dosimeter (PGD) and ferrous gel dosimeter (FGD) and in the solid form as solid plastic dosimeter (SPD)...
March 28, 2017: World Journal of Radiology
https://www.readbyqxmd.com/read/28380271/the-mediating-role-of-integration-of-loss-in-the-relationship-between-dissociation-and-prolonged-grief-disorder
#16
Ilanit Hasson-Ohayon, Tuvia Peri, Itai Rotschild, Rivka Tuval-Mashiach
OBJECTIVE: Findings from the field of trauma have shown that there is a negative relationship between dissociation and integration of loss into the self-narrative. At the same time, an increasing amount of literature on grief has stressed the importance of an integrated self-narrative in the grieving process. Accordingly, the current study examined the possible mediating role played by the extent to which individuals have integrated their loss into their self-narrative in the relationship between dissociation and symptoms of prolonged grief disorder (PGD)...
April 5, 2017: Journal of Clinical Psychology
https://www.readbyqxmd.com/read/28357616/prenatal-screening-for-chromosomal-abnormalities-in-ivf-patients-that-opted-for-preimplantation-genetic-screening-diagnosis-pgs-d-a-need-for-revised-algorithms-in-the-era-of-personalized-medicine
#17
Afua Takyi, Joaquin Santolaya-Forgas
Obstetricians offer prenatal screening for most common chromosomal abnormalities to all pregnant women including those that had in vitro fertilization (IVF) and preimplantation genetic screening/diagnosis (PGS/D). We propose that free fetal DNA in maternal circulation together with the second trimester maternal serum alfa feto protein (MSAFP) and ultrasound imaging is the best prenatal screening test for chromosomal abnormalities and congenital anomalies in IVF-PGD/S patients because risk estimations from all other prenatal screening algorithms for chromosomal abnormalities depend heavily on maternal age which is irrelevant in PGS/D patients...
March 29, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28356093/conflict-related-trauma-and-bereavement-exploring-differential-symptom-profiles-of-prolonged-grief-and-posttraumatic-stress-disorder
#18
Carina Heeke, Nadine Stammel, Manuel Heinrich, Christine Knaevelsrud
BACKGROUND: Exposure to trauma and bereavement is common in conflict-affected regions. Previous research suggests considerable heterogeneity in responses to trauma and loss with varying symptom representations. The purpose of the current study was to (1) identify classes of prolonged grief disorder (PGD) and posttraumatic stress disorder (PTSD) symptom profiles among individuals who were exposed to both trauma and loss due to the Colombian armed conflict and (2) to examine whether sociodemographic, loss and trauma-related characteristics could predict class membership...
March 29, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28346418/first-experience-of-hematopoietic-stem-cell-transplantation-treatment-of-shwachman-diamond-syndrome-using-unaffected-hla-matched-sibling-donor-produced-through-preimplantation-hla-typing
#19
A A Isaev, R V Deev, A Kuliev, I L Plaxa, N V Stancheva, A S Borovkova, I V Potapov, E A Pomerantseva, A G Chogovadze, K Y Boyarsky, A E Semenenko, A V Mikhailov, K G Shevchenko, A V Prikhodko, S Rechitsky, O V Paina, I M Barchatov, L S Zubarovskaya, O Verlinsky, I Y Bozo, B V Afanasyev
The only proven cure for Shwachman-Diamond syndrome (SDS) bone marrow failure is allogeneic hematopoietic stem cell transplantation (HSCT). However HSCT with donors other than HLA-identical siblings is associated with high mortality and unfavorable prognosis. This paper presents the first experience of HSCT treatment of SDS using an unaffected HLA-identical sibling produced through preimplantation genetic diagnosis (PGD). The patient was a 6-year-old blood transfusion-dependent SDS baby girl with secondary myelodysplastic syndrome, for whom no HLA-identical donor was available...
March 27, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28345288/single-tube-tetradecaplex-panel-of-highly-polymorphic-microsatellite-markers-1-mb-from-f8-for-simplified-preimplantation-genetic-diagnosis-of-hemophilia-a
#20
Mingjue Zhao, Min Chen, Arnold S C Tan, Felicia S H Cheah, Joyce Mathew, Peng-Cheang Wong, Samuel S Chong
BACKGROUND: It is currently not possible to perform single cell preimplantation genetic diagnosis (PGD) to directly detect the common inversion mutations of the factor VIII (F8) gene responsible for severe hemophilia A (HEMA). As such, PGD for such inversion carriers relies on indirect analysis of linked polymorphic markers. OBJECTIVES: To simplify linkage-based PGD of HEMA, we aimed to develop a panel of highly polymorphic microsatellite markers located near the F8 gene that could be simultaneously genotyped in a multiplex-PCR reaction...
March 27, 2017: Journal of Thrombosis and Haemostasis: JTH
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