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https://www.readbyqxmd.com/read/29045977/-clinical-and-genetic-characteristics-of-williams-beuren-syndrome-2-cases-report
#1
S Q Wang, Z X Yang, H Li
To explore the clinical and genetic characteristics of Williams-Beuren syndrome (WBS) and to raise awareness of the disease. The characteristics of clinical manifestations, personal history, cardiac ultrasound, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) and chromosome detection results of two cases with WBS were analyzed. The two patients were both male and the age was 11 months and 1 day, and 9 months and 9 days, respectively. They both suffered from cardiovascular malformation: case one presented supravalvular aortic stenosis, and case two showed atrial septal defect and patent ductus arteriosus...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29043100/expression-of-glucose-transporters-in-the-developing-rat-skin
#2
Chang Seok Oh, Jong Ha Hong, Shun Nu Jin, Wang Jae Lee, Young Soo Lee, Eunju Lee
We found the changed distribution of glucose transporter (GLUT) proteins in the skin during rat development. At 15 days of gestation, GLUT1 and 2 proteins were expressed in the stratum corneum of epidermal cells. In postnatal skin, however, GLUT1 and 2 exhibit different expression patterns. While GLUT1 expression becomes more restricted to the stratum basale with development, GLUT2 was found mainly in stratum spinosum and granulosum, but not being localized in the stratum basale at any stages of perinatal skin development...
September 2017: Anatomy & Cell Biology
https://www.readbyqxmd.com/read/29042971/histological-evidence-of-reparative-activity-in-chorioamniotic-membrane-following-open-fetal-surgery-for-myelomeningocele
#3
Natalia S Carvalho, Antonio F Moron, Ramkumar Menon, Sergio Cavalheiro, Mauricio M Barbosa, Herbene J Milani, Marcia M Ishigai
An increased understanding of the reparative process in fetal membrane following surgical techniques may be helpful to decrease the risks to mother and fetus and avoid adverse pregnancy outcomes. The present study discusses histological evaluation of the fetal membrane following open fetal surgery. Chorioamniotic membranes (n=10) were obtained following birth from pregnancies that underwent open fetal surgery for myelomeningocele. The collagen distribution was quantified using picrosirius-polarization method comparing the suture site with non-suture site...
October 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29041973/the-establishment-and-application-of-preimplantation-genetic-haplotyping-in-embryo-diagnosis-for-reciprocal-and-robertsonian-translocation-carriers
#4
Shuo Zhang, Caixia Lei, Junping Wu, Jing Zhou, Haiyan Sun, Jing Fu, Yijuan Sun, Xiaoxi Sun, Daru Lu, Yueping Zhang
BACKGROUND: Preimplantation genetic diagnosis (PGD) is now widely used to select embryos free of chromosomal copy number variations (CNV) from chromosome balanced translocation carriers. However, it remains a difficulty to distinguish in embryos between balanced and structurally normal chromosomes efficiently. METHODS: For this purpose, genome wide preimplantation genetic haplotyping (PGH) analysis was utilized based on single nucleotide polymorphism (SNP) microarray...
October 17, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/29037922/oral-vitamin-b1-substitution-does-not-decrease-genetically-determined-cleft-rate-in-mice-a-wysn
#5
Konstanze Scheller, Florian Kalmring, Christian Scheller, Johannes Schubert, Joanna Bialek
PURPOSE: Cleft lip and palate (CL/P) are one of the most common human birth defects. Animal experiments and clinical investigations show a clear reduction of teratogenic clefts by a high-dose vitamin B supplementation during early pregnancy, especially in families at risk (reduction of recurrence). The aim of this work was to examine the influence of thiamine (vitamin B1) on CL/P appearance in genetically determined A/WySn mice within different supplementation starting points. MATERIALS AND METHODS: A total of 24 A/WySn female mice were orally supplemented with high doses (80 mg/kg) of thiamine at different times of pregnancy (5 groups, n = 90)...
June 23, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29037558/monozygotic-twins-discordant-for-trisomy-21-discussion-of-etiological-events-involved
#6
Yao-Lung Chang, Wu-Pei Yi, An-Shine Chao, Kuan-Ju Chen, Po-Jen Cheng, Tzu-Hao Wang, Shuenn-Dyh Chang
OBJECTIVE: To elucidate the etiologies of discordant trisomy 21 in monozygotic twin pregnancy. CASE REPORT: A monochorionic diamniotic twin pregnancy with hydrops and cleft lip (twin 1) found in one fetus presented at gestational age of 17 weeks. Amniotic fluid karyotyping showed nonmosaic trisomy 21 in twin 1 (47, XY, +21 [20]) and a normal karyotype in twin 2 (46, XY [20]). Short tandem repeat (STR) polymorphism markers revealed that the two fetuses were monozygotic, and the two chromosomes 21 were maternal isodisomy in the trisomy fetus...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29037557/prenatal-diagnosis-of-isochromosome-20q-in-a-fetus-with-vertebral-anomaly-and-rocker-bottom-feet
#7
Aline Receveur, Sophie Brisset, Jelena Martinovic, Anne Bazin, Laurence Lhomann, Claire Colmant, Dominique Pineau, Valérie Gautier, Lucie Tosca, Gérard Tachdjian
OBJECTIVE: Isochromosome of the long arm of chromosome 20 (i(20q)) is a rare structural abnormality in prenatal diagnosis. Thirty prenatal cases of mosaic i(20q) have been reported, among which only four are associated with fetal malformations. We describe a new prenatal case of i(20q) with fetal malformations. MATERIALS AND METHODS: We also observed a discrepancy between uncultured and cultured amniotic fluid cells by using conventional cytogenetic, fluorescence in situ hybridization and array-SNP analysis...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29037544/effects-of-pushing-techniques-during-the-second-stage-of-labor-a%C3%A2-randomized-controlled-trial
#8
Refika Genç Koyucu, Nurdan Demirci
OBJECTIVE: Spontaneous pushing is a method that is used in the management of the second stage of labor and suggested to be more physiological for the mother and infant. The present study aims to evaluate the effects of pushing techniques on the mother and newborn. MATERIALS AND METHODS: This randomized prospective study was performed between June 2013-March 2014 in a tertiary maternity clinic in Istanbul. 80 low risk, nulliparous cases were randomized to pushing groups...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29037543/amniopatch-treatment-for-preterm-premature-rupture-of-membranes-before-23-weeks-gestation-and-factors-associated-with-its-success
#9
Ji-Hee Sung, Jin-Yi Kuk, Hyun-Hwa Cha, Suk-Joo Choi, Soo-Young Oh, Cheong-Rae Roh, Jong-Hwa Kim
OBJECTIVE: The purpose of this study is to investigate the factors associated with successful amniopatch treatment in patients with iatrogenic preterm premature rupture of membranes (iPPROM) or spontaneous PPROM (sPPROM) before 23 weeks' gestation. MATERIALS AND METHODS: This cohort study included 28 women who received amniopatch treatment due to iPPROM or sPPROM at 15-23 weeks' gestation. Patients' clinical characteristics before performing the amniopatch, factors associated with the procedure, pregnancy and neonatal outcomes were compared between the iPPROM and sPPROM groups, and also between the successful and failed groups...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29036698/chromosomal-context-affects-the-molecular-evolution-of-sex-linked-genes-and-their-autosomal-counterparts-in-turtles-and-other-vertebrates
#10
Srihari Radhakrishnan, Nicole Valenzuela
Sex chromosomes evolve differently from autosomes because natural selection acts distinctly on them given their reduced recombination and smaller population size. Various studies of sex-linked genes compared to different autosomal genes within species support these predictions. Instead, here we take a novel alternative approach comparing the rate of evolution between subsets of genes that are sex-linked in selected reptiles/vertebrates and the same genes located in autosomes in other amniotes. We report for the first time the faster evolution of Z-linked genes in a turtle (the Chinese soft-shell turtle Pelodiscus sinensis) relative to autosomal orthologs in other taxa, including turtles with temperature-dependent sex determination (TSD)...
September 27, 2017: Journal of Heredity
https://www.readbyqxmd.com/read/29036682/perinatal-risk-factors-for-neonatal-early-onset-group-b-streptococcal-sepsis-after-initiation-of-risk-based-maternal-intrapartum-antibiotic-prophylaxis-a-case-control-study
#11
Sridhar Santhanam, Sumita Arun, Grace Rebekah, Nithya J Ponmudi, Jolly Chandran, Ruby Jose, Atanu Kumar Jana
Objectives: To identify the perinatal risk factors for early-onset Group B Streptococcus (EOGBS) sepsis in neonates after inception of a risk-based maternal intrapartum antibiotic prophylaxis strategy in 2004. Design: Case control study. Methods: All newborn with early onset GBS sepsis (born between 2004 and 2013) were deemed to be "cases" and controls were selected in a 1:4 ratio. Results: More than three per vaginal (PV) examinations [odds ratio (OR) 8...
September 23, 2017: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/29034376/exploring-the-pregnant-guinea-pig-as-a-model-for-group-b-streptococcus-intrauterine-infection
#12
Maria I Harrell, Kellie Burnside, Christopher Whidbey, Jay Vornhagen, Kristina M Adams Waldorf, Lakshmi Rajagopal
Infection of the amniotic cavity remains a major cause of preterm birth, stillbirth, fetal injury and early onset, fulminant infections in newborns. Currently, there are no effective therapies to prevent in utero infection and consequent co-morbidities. This is in part due to the lack of feasible and appropriate animal models to understand mechanisms that lead to in utero infections. Use of mouse and rat models do not fully recapitulate human pregnancy, while pregnant nonhuman primate models are limited by ethical considerations, technical constraints, and cost...
September 2017: J Infect Dis Med
https://www.readbyqxmd.com/read/29032050/positive-predictive-value-estimates-for-cell-free-noninvasive-prenatal-screening-from-data-of-a-large-referral-genetic-diagnostic-laboratory
#13
Andrea K Petersen, Sau Wai Cheung, Janice L Smith, Weimin Bi, Patricia A Ward, Sandra Peacock, Alicia Braxton, Ignatia B van den Veyver, Amy M Breman
BACKGROUND: Since its debut in 2011, cell-free fetal DNA (cffDNA) screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, has lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre and post-test counseling, pre/perinatal decision making and medical risk assessment/management...
October 12, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29032001/efficacy-of-self-retained-cryopreserved-amniotic-membrane-for-treatment-of-neuropathic-corneal-pain
#14
Melina I Morkin, Pedram Hamrah
PURPOSE: Treatment of neuropathic corneal pain (NCP) remains intricate, and involves a long-term combined multistep approach. The self-retained cryopreserved amniotic membrane (PROKERA(®), Bio-Tissue, Miami,FL) has been utilized for multiple ocular surface disorders. We evaluate the efficacy, safety, and tolerability of ProKera(®) Slim [PKS] and ProKera(®) Clear [PKC] in the treatment of NCP. METHODS: Retrospective case series of 9 patients who received PKS/PKC for the acute treatment of NCP...
October 12, 2017: Ocular Surface
https://www.readbyqxmd.com/read/29030893/sonic-hedgehog-antagonists-reduce-size-and-alter-patterning-of-the-frog-inner-ear
#15
Sanam Zarei, Kasra Zarei, Bernd Fritzsch, Karen L Elliott
Sonic Hedgehog (Shh) signaling plays a major role in vertebrate development, from regulation of proliferation to the patterning of various organs. In amniotes, Shh affects dorsoventral patterning in the inner ear but affects anteroposterior patterning in teleosts. Currently, it remains unknown the function of Shh in inner ear development in terms of how morphogenesis changes in the sarcopterygian/tetrapod lineage coincide with the evolution of limbs and novel auditory organs in the ear. In this study we used the tetrapod, Xenopus laevis, to test how increasing concentrations of the Shh signal pathway antagonist, Vismodegib, affects ear development...
October 14, 2017: Developmental Neurobiology
https://www.readbyqxmd.com/read/29030612/healing-of-preterm-ruptured-fetal-membranes
#16
Haruta Mogami, Annavarapu Hari Kishore, Yucel Akgul, R Ann Word
Preterm premature rupture of membrane (pPROM) is associated with 30-40% of preterm births. Infection is considered a leading cause of pPROM due to increased levels of proinflammatory cytokines in amniotic fluid. Only 30%, however, are positive for microbial organisms by amniotic fluid culture. Interestingly, in some pregnancies complicated by preterm premature rupture of membranes (pPROM), membranes heal spontaneously and pregnancy continues until term. Here, we investigated mechanisms of amnion healing. Using a preclinical mouse model, we found that small ruptures of the fetal membrane closed within 72 h whereas healing of large ruptures was only 40%...
October 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29030170/in-utero-negativization-of-zika-virus-in-a-case-with-serious-central-nervous-system-abnormalities
#17
Carlota Rodó, Anna Suy, Elena Sulleiro, Antoni Soriano-Arandes, Andrés Antón, Itziar García, Silvia Arévalo, Élida Vázquez, Ana Vázquez, Fernando de Ory, M Paz Sánchez-Seco, Carlos Rodrigo, Tomás Pumarola, Elena Carreras
OBJECTIVES: To describe a case of a pregnant woman with Zika virus infection and severe fetal brain malformations. METHODS: Serial ultrasound measurements, fetal magnetic resonance imaging results, laboratory and amniocentesis results, and perinatal outcomes of the pregnant woman and her neonate are reported. RESULTS: Zika virus tested positive in amniotic fluid at 19 weeks while being negative at delivery. The newborn did not meet the case definition of congenital Zika virus syndrome because neither the Zika virus RNA nor immunoglobulin M antibodies were detected; however, prenatal brain lesions were confirmed after birth...
October 10, 2017: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/29027307/transient-amniotic-fluid-leakage-after-fetoscopic-laser-photocoagulation-for-twin-twin-transfusion-syndrome
#18
Shiyo Ota, Keisuke Ishii, Hiroshi Kawamura, Aki Mabuchi, Ryo Yamamoto, Shusaku Hayashi, Takeshi Kanagawa, Nobuaki Mitsuda
AIM: Iatrogenic premature rupture of membrane (PROM) is one of the major complications related to fetoscopic laser photocoagulation (FLP) for twin-twin transfusion syndrome (TTTS). However, amniotic fluid leakage (AFL) sometimes spontaneously disappears. This study evaluated the incidence and clinical characteristics of transient AFL after FLP. METHODS: We retrospectively reviewed pregnancies that underwent FLP for TTTS at a single center. Patients with apparent AFL within 2 weeks after FLP were divided into two groups: transient AFL, defined by the disappearance of fluid leakage within a week; and PROM, if AFL persisted continuously for more than a week or premature birth occurred, including miscarriage, within a week of the first symptom of AFL...
October 13, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29026569/sudden-maternal-hypoxemia-during-elective-cesarean-section-in-a-woman-with-placenta-previa
#19
Takeshi Umazume, Satoshi Hayasaka, Fumi Kato, Satoshi Ishikawa, Mamoru Morikawa, Hisanori Minakami
There have been no reports regarding imaging-documented bronchospasm in patients with amniotic fluid embolism (AFE). In a woman with scheduled cesarean section for placenta previa, transient bronchospasm and pulmonary hypertension were documented explaining a sudden drop in SpO2. Mild AFE was the most likely diagnosis in this patient.
October 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29024514/therapeutic-potential-of-haecs-for-early-achilles-tendon-defect-repair-through-regeneration
#20
Barbara Barboni, Valentina Russo, Valentina Gatta, Nicola Bernabò, Paolo Berardinelli, Annunziata Mauro, Alessandra Martelli, Luca Valbonetti, Aurelio Muttini, Oriana Di Giacinto, Maura Turriani, Antonietta Silini, Giuseppe Calabrese, Michele Abate, Ornella Parolini, Liborio Stuppia, Mauro Mattioli
Cell-based therapy hold great promise for tendon disorders, a widespread debilitating musculoskeletal condition. Even if the cell line remains to be defined, preliminary evidences have proven that amniotic-derived cells possess in vitro and in vivo a great tenogenic potential. The present study investigated the efficacy of transplanted human amniotic epithelial cells (hAECs) by testing their early regenerative properties and mechanisms involved on a validated ovine Achilles tendon partial defect performed on 29 animals...
October 11, 2017: Journal of Tissue Engineering and Regenerative Medicine
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