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Zhongping Xu, Monal Sharma, Andrew Gelman, Ramsey Hachem, Thalachallour Mohanakumar
BACKGROUND: MicroRNAs (miRNAs) were recently identified as modulators of immune responses after human lung transplantation (LTx). This study was undertaken to assess the contribution of miRNAs to the pathogenesis of primary graft dysfunction (PGD) after LTx. METHODS: Of the 39 recipients, 14 (35.9%) developed Grade 3 PGD (i.e., severe PGD) within the first 72 hours of LTx. The remaining 25 recipients (64.1%) had Grade 2 or less PGD, and served as the control group...
September 12, 2016: Journal of Heart and Lung Transplantation
Rola F Turki, Mourad Assidi, Huda A Banni, Hanan A Zahed, Sajjad Karim, Hans-Juergen Schulten, Muhammad Abu-Elmagd, Abdulrahim A Rouzi, Osama Bajouh, Hassan S Jamal, Mohammed H Al-Qahtani, Adel M Abuzenadah
BACKGROUND: Recurrent pregnancy loss (RPL) or recurrent spontaneous abortion is an obstetric complication that affects couples at reproductive age. Previous reports documented a clear relationship between parents with chromosomal abnormalities and both recurrent miscarriages and infertility. However, limited data is available from the Arabian Peninsula which is known by higher rates of consanguineous marriages. The main goal of this study was to determine the prevalence of chromosomal abnormalities and thrombophilic polymorphisms, and to correlate them with RPL and consanguinity in Saudi Arabia...
October 10, 2016: BMC Medical Genetics
Ming Chen, Shun-Ping Chang, Gwo-Chin Ma, Wen-Hsian Lin, Hsin-Fu Chen, Shee-Uan Chen, Horng-Der Tsai, Feng-Po Tsai, Ming-Ching Shen
Preimplantation genetic diagnosis (PGD) is a powerful tool to tackle the transmission of monogenic inherited disorders in families carrying the diseases from generation to generation. It currently remains a challenging task, despite PGD having been developed over 25 years ago. The major difficulty is it does not have an easy and general formula for all mutations. Different gene locus needs individualized, customized design to make the diagnosis accurate enough to be applied on PGD, in which the quantity of DNA is scanty, whereas timely laboratory diagnosis is mandatory if fresh embryo transfer is desired occasionally...
2016: Thrombosis Journal
Sui Cheung Man, Xian-Bin Li, Huai-Hai Wang, Hai-Ning Yuan, Hua-Ning Wang, Rui-Guo Zhang, Qing-Rong Tan, Hei Kiu Wong, Grainne M McAlonan, Chuan-Yue Wang, Zhang-Jin Zhang
OBJECTIVES: An herbal preparation called peony-glycyrrhiza decoction (PGD) may have the potential in reducing antipsychotic-related hyperprolactinemia (hyperPRL). This double-blind, randomized placebo-controlled study aimed to reevaluate the efficacy of PGD against antipsychotic-related hyperPRL. METHODS: Ninety-nine schizophrenic women who were under antipsychotic therapy and had symptomatic hyperPRL were randomly assigned to additional treatment with placebo (n = 50) or PGD (n = 49, 45 g/d) for 16 weeks...
October 13, 2016: Journal of Clinical Psychopharmacology
Antonio Capalbo, Filippo Maria Ubaldi, Laura Rienzi, Richard Scott, Nathan Treff
Embryonic mosaicism, defined as the presence of karyotypically distinct cell lines within an embryo, has been frequently reported with a high incidence in preimplantation embryos derived from IVF and is thought to be one of the major biological limitations for the routine application of PGD for aneuploidies (PGD-A). The incidence of mosaicism in preimplantation embryos is in fact reported to be between 4 and 90%. However, these data are in sharp contrast with what is known from clinical pregnancies, where true foetal mosaicism is observed in less than 0...
October 13, 2016: Human Reproduction
Christopher Gilfillan, Pratyusha Naidu, Florence Gunawan, Fadwa Hassan, Pei Tian, Ngaire Elwood
AIMS: Telomeres undergo shortening with cell division, accelerated by increased oxidative stress. We aimed to demonstrate shortened telomeres in the offspring of mothers who have diabetes as a consequence of exposure to increased oxidative stress during intrauterine development. METHODS: We examined the level of glycaemia (glucose, HbA1c, fructosamine), oxidative stress (lipid peroxidation) and the levels of antioxidant enzymes (Superoxide dismutase (SOD) and Selenium dependent glutathione peroxidase) and correlate these findings with mean telomere length (TL) in maternal and foetal blood in groups of pregnant women with pre-gestational diabetes (PGD), gestational diabetes (GD) and a euglycaemic control group...
2016: PloS One
A A Abbas, J M Diamond, C Chehoud, B Chang, J J Kotzin, J C Young, I Imai, A R Haas, E Cantu, D J Lederer, K Meyer, R K Milewski, K M Olthoff, A Shaked, J D Christie, F D Bushman, R G Collman
Primary graft dysfunction (PGD) is a principal cause of early morbidity and mortality after lung transplantation, but its pathogenic mechanisms are not fully clarified. Thus far, studies using standard clinical assays have not linked microbial factors to PGD. We previously used comprehensive metagenomic methods to characterize viruses in lung allografts >1 month post-transplant and found that levels of Anellovirus, mainly Torque teno viruses (TTV), were significantly higher than in non-transplant healthy controls...
October 12, 2016: American Journal of Transplantation
Krithika Ravichandran, Luis Guzman, Tomas Escudero, Xuezhong Zheng, Pere Colls, Amy Jordan, Jacques Cohen, Dagan Wells, Santiago Munné
Preimplantation genetic diagnosis of aneuploidy (PGD-A) with comprehensive chromosome analysis has been known to improve pregnancy outcomes. Accuracy in detecting sex chromosomes becomes important when selecting against embryos at risk for sex-linked disorders. A total of 21,356 PGD-A cycles consisting of day-3 (cleavage) or day-5 (blastocyst) biopsies were received at the same laboratory for PGD-A via fluorescence in situ hybridization (FISH) or array comparative genome hybridization (aCGH) from multiple fertility centres...
August 20, 2016: Reproductive Biomedicine Online
Paul K Maciejewski, Andreas Maercker, Paul A Boelen, Holly G Prigerson
There exists a general consensus that prolonged grief disorder (PGD), or some variant of PGD, represents a distinct mental disorder worthy of diagnosis and treatment. Nevertheless, confusion remains over whether different names and proposed symptom criteria for this disorder identify the same or different diagnostic entities. This study aimed to determine whether PGD, complicated grief (CG), and persistent complex bereavement disorder (PCBD) as described by the DSM-5 are substantively or merely semantically different diagnostic entities...
October 2016: World Psychiatry: Official Journal of the World Psychiatric Association (WPA)
V Chauhan, V P Jyotsna, V Jain, R Khadgawat, R Dada
46,XY gonadal dysgenesis (GD) constitutes a rare group of disorders characterized by the presence of dysfunctional testes in genotypic males. The molecular etiology is not known in about 2 thirds of instances. The aim of this study was to identify the genetic cause in patients with 46,XY gonadal dysgenesis. Based on clinical, cytogenetic, and biochemical screening, 10 patients with 46,XY GD were recruited. Direct sequencing of SRY, NR5A1, SOX9, DAX1, DHH, DMRT1 genes was carried out for molecular analysis. Among 10 patients, 5 were diagnosed with complete gonadal dysgenesis (CGD), 3 with partial gonadal dysgenesis (PGD), and 3 with testicular agenesis...
October 6, 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
Liron Bar-El, Yael Kalma, Mira Malcov, Tamar Schwartz, Shaul Raviv, Tania Cohen, Hadar Amir, Yoni Cohen, Adi Reches, Ami Amit, Dalit Ben-Yosef
PURPOSE: The purpose of the study was to explore the effect of blastomere biopsy for preimplantation genetic diagnosis (PGD) on the embryos' dynamics, further cleavage, development, and implantation. METHODS: The study group included 366 embryos from all PGD treatments (September 2012 to June 2014) cultured in the EmbryoScope™ time-lapse monitoring system. The control group included all intracytoplasmic sperm injection (ICSI) embryos cultured in EmbryoScope™ until day 5 during the same time period (385 embryos)...
October 1, 2016: Journal of Assisted Reproduction and Genetics
Oscar Swift, Enric Vilar, Belinda Rahman, Lucy Side, Daniel P Gale
AIMS: No recommendations currently exist regarding implementation of both prenatal diagnosis and preimplantation genetic diagnosis (PGD) for autosomal dominant polycystic kidney disease (ADPKD). This study evaluated attitudes in ADPKD patients with either chronic kidney disease (CKD) stages I-IV or end-stage renal failure (ESRF) toward prenatal diagnosis and PGD. METHODS: Ninety-six ADPKD patients were recruited from an outpatient clinic, wards, and dialysis units...
September 30, 2016: Genetic Testing and Molecular Biomarkers
Sharifeh Khosravi, Mansour Salehi, Mahboobeh Ramezanzadeh, Hamed Mirzaei, Rasoul Salehi
BACKGROUND AND AIMS: Thalassemia is curable by bone marrow transplantation; however, finding suitable donors with defined HLA combination remains a major challenge. Cord blood stem cells with preselected HLA system through preimplantation genetic diagnosis (PGD) proved very useful for resolving scarce HLA-matched bone marrow donors. METHODS: A thalassemia trait couple with an affected child was included in this study. We used informative STR markers at the HLA and beta globin loci to develop a single cell multiplex fluorescent PCR protocol...
May 2016: Archives of Medical Research
Mara Simopoulou, Laertis Gkoles, Panagiotis Bakas, Polina Giannelou, Theodoros Kalampokas, Konstantinos Pantos, Michael Koutsilieris
: Intracytoplasmic sperm injection (ICSI) is the most frequently applied method for fertilization making the process of identifying the perfect spermatozoon fundamental. Herein we offer a critical and thorough presentation on the techniques reported regarding (i) handling and preparing semen samples, (ii) identifying and 'fishing' spermatozoa, and (iii) improving key factors, such as motility for a successful ICSI practice. These approaches are suggested to make the process easier and more effective especially in atypical and challenging circumstances...
September 20, 2016: Systems Biology in Reproductive Medicine
Tze King Tan, Ka Yun Tan, Ranjeev Hari, Aini Mohamed Yusoff, Guat Jah Wong, Cheuk Chuen Siow, Naresh V R Mutha, Mike Rayko, Aleksey Komissarov, Pavel Dobrynin, Ksenia Krasheninnikova, Gaik Tamazian, Ian C Paterson, Wesley C Warren, Warren E Johnson, Stephen J O'Brien, Siew Woh Choo
Pangolins (order Pholidota) are the only mammals covered by scales. We have recently sequenced and analyzed the genomes of two critically endangered Asian pangolin species, namely the Malayan pangolin (Manis javanica) and the Chinese pangolin (Manis pentadactyla). These complete genome sequences will serve as reference sequences for future research to address issues of species conservation and to advance knowledge in mammalian biology and evolution. To further facilitate the global research effort in pangolin biology, we developed the Pangolin Genome Database (PGD), as a future hub for hosting pangolin genomic and transcriptomic data and annotations, and with useful analysis tools for the research community...
2016: Database: the Journal of Biological Databases and Curation
Shannon H Lacy, Collynn F Woeller, Thomas H Thatcher, Krishna Rao Maddipati, Kenneth V Honn, Patricia J Sime, Richard P Phipps
Human lung fibroblasts (HLFs) act as innate immune sentinel cells that amplify the inflammatory response to injurious stimuli. Here, we use targeted lipidomics to explore the hypothesis that HLFs also play an active role in the resolution of inflammation. We detected cyclooxygenase-2 (COX-2)-dependent production of both pro-inflammatory and pro-resolving prostaglandins (PGs) in conditioned culture medium from HLFs treated with a pro-inflammatory stimulus, IL-1β. Among the pro-resolving PGs in the HLF lipidome were several known ligands for peroxisome proliferator-activated receptor gamma (PPARγ), a transcription factor whose activation in the lung yields potent anti-inflammatory, anti-fibrotic and pro-resolving effects...
September 9, 2016: American Journal of Physiology. Lung Cellular and Molecular Physiology
April Morrow, Sean Seeho, Kristine Barlow-Stewart, Jane Fleming, Bettina Meiser, Janan Karatas
BACKGROUND: Pre-implantation genetic diagnosis (PGD) is a molecular diagnostic technique in which embryos are tested for specific genetic abnormalities to enable the selection of those unaffected by the condition. Previous Australian evidence suggested that women who are not informed about PGD by their obstetrician feel disempowered about not being given this option. AIMS: This study aimed to explore obstetrician knowledge regarding PGD and identify barriers to referral...
September 9, 2016: Australian & New Zealand Journal of Obstetrics & Gynaecology
Yixin Ren, Xu Zhi, Xiaohui Zhu, Jin Huang, Ying Lian, Rong Li, Hongyan Jin, Yan Zhang, Wenxin Zhang, Yanli Nie, Yuan Wei, Zhaohui Liu, Donghong Song, Ping Liu, Jie Qiao, Liying Yan
Conventional PCR methods combined with linkage analysis based on short tandem repeats (STRs) or Karyomapping with single nucleotide polymorphism (SNP) arrays, have been applied to preimplantation genetic diagnosis (PGD) for spinal muscular atrophy (SMA), an autosome recessive disorder. However, it has limitations in SMA diagnosis by Karyomapping, and these methods are unable to distinguish wild-type embryos with carriers effectively. Mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA) is a new method allowing embryo selection by a one-step next-generation sequencing (NGS) procedure, which has been applied in PGD for both autosome dominant and X-linked diseases in our group previously...
September 20, 2016: Journal of Genetics and Genomics, Yi Chuan Xue Bao
Shubhashree Uppangala, Fiona D'Souza, Shivanand Pudakalakatti, Hanudatta S Atreya, Keyur Raval, Guruprasad Kalthur, Satish Kumar Adiga
: Laser assisted zona hatching (LAH) is a routinely used therapeutic intervention in assisted reproductive technology for patients with poor prognosis. However, results are not conclusive in demonstrating the benefits of zona hatching in improving the pregnancy rate. Recent observations on LAH induced genetic instability in animal embryos prompted us to look into the effects of laser assisted zona hatching on the human preimplantation embryo quality and metabolic uptake using high resolution nuclear magnetic resonance (NMR) technology...
September 6, 2016: Systems Biology in Reproductive Medicine
Hilary F Armstrong, David J Lederer, Matthew Bacchetta, Matthew N Bartels
BACKGROUND: Adults with primary graft dysfunction (PGD) after lung transplantation are at increased risk for pulmonary and functional impairment. No prior studies have described the long-term (within 1.5 years of transplant) cardiopulmonary exercise testing (CPET) results in adults with grade 3 PGD. The objective of this study was to compare the functional outcomes of lung transplant patients with and without grade 3 PGD via CPET and six-minute talk tests (6MWD). METHODS: 243 adults underwent lung transplantation between 2003 and 2010, 128 (53%) of whom underwent CPET and 6MWD within 12-18 months of transplantation...
September 1, 2016: Heart & Lung: the Journal of Critical Care
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