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https://www.readbyqxmd.com/read/28436347/familiality-and-heritability-of-fatigue-in-an-australian-twin-sample
#1
Elizabeth C Corfield, Nicholas G Martin, Dale R Nyholt
Familial factors have previously been implicated in the etiology of fatigue, of which a significant proportion is likely attributable to genetic influences. However, family studies have primarily focused on chronic fatigue syndrome, while univariate twin studies have investigated broader fatigue phenotypes. The results for similar fatigue phenotypes vary between studies, particularly with regard to sex-specific contributions to the heritability of the traits. Therefore, the current study aims to investigate the familiality and sex-specific effects of fatigue experienced over the past few weeks in an older Australian population of 660 monozygotic (MZ) twin pairs, 190 MZ singleton twins, 593 dizygotic (DZ) twin pairs, and 365 DZ singleton twins...
April 24, 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28434005/chorioamniotic-membrane-separation-after-fetoscopic-laser-photocoagulation
#2
Mayumi Takano, Masahiko Nakata, Susumu Murata, Masahiro Sumie, Mineto Morita
INTRODUCTION: This study aimed to investigate the risk factors, incidence, and influence on the perinatal outcome of chorioamniotic membrane separation (CMS) after fetoscopic laser photocoagulation (FLP). MATERIAL AND METHODS: This retrospective study included 312 women who underwent FLP for twin-to-twin transfusion syndrome (TTTS). Clinical records were used to review obstetrical examinations, complications, operative data, ultrasonographic findings, and perinatal and neonatal follow-up data in all patients...
April 22, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28422345/therapeutic-efficacy-of-twin-block-and-fixed-oral-appliances-in-patients-with-obstructive-sleep-apnea-syndrome
#3
George Umemoto, Hideo Toyoshima, Yuji Yamaguchi, Naoko Aoyagi, Chikara Yoshimura, Kouta Funakoshi
PURPOSE: To compare the efficacy of twin-block (i.e., allows mouth opening) and fixed (i.e., maintains mouth closure) mandibular advancement splints (MASs) for the treatment of obstructive sleep apnea-hypopnea syndrome (OSA). MATERIALS AND METHODS: From 2011 to 2013, 23 patients with OSA in the twin-block group, and from 2013 to 2015, 29 patients in the fixed MAS group were included. All patients underwent polysomnography before and after 3 months of treatment. The two sets of polysomnographic and cephalometric variables were compared...
April 19, 2017: Journal of Prosthodontics: Official Journal of the American College of Prosthodontists
https://www.readbyqxmd.com/read/28407410/variable-clinical-course-of-identical-twin-neonates-with-alstr%C3%A3-m-syndrome-presenting-coincidentally-with-dilated-cardiomyopathy
#4
Seth A Hollander, Norah Alsaleh, Maura Ruzhnikov, Kristen Jensen, David N Rosenthal, David A Stevenson, Melanie Manning
Alström Syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report monozygotic twin infants who presented concurrently with symptoms of congestive heart failure (CHF) due to dilated cardiomyopathy (DCM). Following their initial presentation, one twin improved both echocardiographically and functionally while the other twin showed a progressive decline in ventricular function and worsening CHF symptoms requiring multiple hospitalizations and augmentation of heart failure therapy...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28405987/cardiorenal-syndrome-clinical-outcome-study
#5
H R Shah, N P Singh, N P Aggarwal, D Singhania, A Kumar
BACKGROUND: Over recent years, the field of medicine has been challenged by the twin epidemic of heart failure and renal insufficiency. The coexistence of the two problems in the same patient, referred to as cardiorenal syndrome (CRS), is defined as 'disorders of the heart and kidneys whereby acute or chronic dysfunction in one organ may induce acute or chronic dysfunction of the other. The mechanisms underlying this interaction are complex and multifactorial in nature. OBJECTIVE OF STUDY: Identify and classify patients admitted with cardiorenal syndrome into various subtypes and assess clinical outcome at discharge and at three months...
December 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28403975/-fetoscopic-laser-coagulation-in-200%C3%A2-consecutive-monochorionic-pregnancies-with-twin-twin-transfusion-syndrome
#6
L Lecointre, N Sananès, A S Weingertner, A Gaudineau, C Akladios, V Cavillon, B Langer, R Favre
OBJECTIVES: To report preoperative data, surgical characteristics, complications and perinatal outcome of twin-twin transfusion syndrome (TTTS) managed with laser ablation surgery, to analyze predictors of neonatal survival and to compare the 100 most recent cases with the older 100. MATERIALS AND METHODS: Observational cohort moncentric study of 200 cases of TTTS consecutively treated with fetoscopic laser coagulation between January 2004 and December 2014...
February 2017: J Gynecol Obstet Hum Reprod
https://www.readbyqxmd.com/read/28397216/-prenatal-diagnosis-of-22q11-microdeletion-syndrome
#7
Meiying Cai, Hailong Huang, Na Lin, Nan Guo, Xiaoqing Wu, Linjuan Su, Liangpu Xu
OBJECTIVE: To establish a method for the prenatal diagnosis of 22q11 microdeletion syndrome. METHODS: BACs-on-Beads (BoBs) and fluorescence in situ hybridization (FISH) were performed on a fetus for whom amniotic chromosomal culturing has failed and a pair of twin fetuses suspected for 22q11 deletion syndrome. RESULTS: 22q11 microdeletion was detected in all 3 fetuses by prenatal BoBs as well as FISH, with only one red signal detected at the DiGeorge/VCFS N25 site and two green signals on the 22q13...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28384775/superior-canal-dehiscence-syndrome-affecting-3-families
#8
Katherine D Heidenreich, Paul R Kileny, Sameer Ahmed, Hussam K El-Kashlan, Tori L Melendez, Gregory J Basura, Marci M Lesperance
Importance: Superior canal dehiscence syndrome (SCDS) is an increasingly recognized cause of hearing loss and vestibular symptoms, but the etiology of this condition remains unknown. Objective: To describe 7 cases of SCDS across 3 families. Design, Setting, and Participants: This retrospective case series included 7 patients from 3 different families treated at a neurotology clinic at a tertiary academic medical center from 2010 to 2014. Patients were referred by other otolaryngologists or were self-referred...
April 6, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28371633/ovarian-torsion-and-spontaneous-ovarian-hyperstimulation-syndrome-in-a-twin-pregnancy-a-case-report
#9
Núria Gil Navarro, Emma Garcia Grau, Sílvia Pina Pérez, Laia Ribot Luna
INTRODUCTION: Ovarian hyperstimulation syndrome (OHSS) is extremely rare in spontaneous pregnancies. Spontaneous OHSS can result from glycoprotein hormones stimulating follicle-stimulating hormone receptors (FSHR). PRESENTATION OF CASE: We report a twin pregnancy in which ovarian torsion and hemoperitoneum complicating OHSS were treated with left adnexectomy and aspiration. The only trigger for spontaneous OHSS in this case was high levels of chorionic gonadotropin hormone...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28370497/cardiac-pathophysiology-in-twin-twin-transfusion-syndrome-new-insights-into-its-evolution
#10
Christoph Wohlmuth, David Boudreaux, Kenneth J Moise, Anthony Johnson, Ramesha Papanna, Michael Bebbington, Helena M Gardiner
OBJECTIVES: In twin-twin transfusion syndrome (TTTS) unbalanced transfer of vasoactive mediators and fluid from the 'donor' to the 'recipient' alters cardiovascular function. We evaluated cardiac function in 145 monochorionic-diamniotic (MCDA) pregnancies with and without TTTS. METHODS: Echocardiography was performed in uncomplicated MCDA, n = 26; TTTS stage I+II, n = 61; TTTS stage III+IV, n = 58, before selective fetoscopic laser photocoagulation (SFLP) in TTTS, and afterwards in 41 (34%) at a mean of 1...
March 31, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28370096/recipient-twin-circular-shunt-physiology-before-fetal-laser-surgery-survival-and-risks-for-postnatal-right-ventricular-outflow-tract-obstruction
#11
Jay D Pruetz, Jodie K Votava-Smith, Hikmat R Chmait, Lisa M Korst, Arlyn Llanes, Ramen H Chmait
OBJECTIVES: To evaluate risk for congenital heart disease (CHD) in recipient twins with circular shunt physiology (CSP). METHODS: This prospective study enrolled twin-twin transfusion syndrome (TTTS) cases from 2006 to 2015. Fetal echocardiography (FE) was performed before laser surgery when cardiac involvement was suspected. Diagnosis of recipient twin CSP required tricuspid and pulmonary regurgitation, right ventricular dysfunction, and flow reversal in the ductus arteriosus...
April 3, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28369925/cousins-not-twins-intra-and-inter-tumoral-heterogeneity-in-syndromic-neuroendocrine-tumours
#12
Aidan Flynn, Trisha Dwight, Diana Benn, Siddhartha Deb, Andrew J Colebatch, Stephen Fox, Jessica Harris, Emma L Duncan, Bruce Robinson, Annette Hogg, Jason Ellul, Henry To, Cuong Duong, Julie A Miller, Christopher Yates, Paul James, Alison Trainer, Anthony J Gill, Roderick Clifton-Bligh, Rodney J Hicks, Richard W Tothill
Hereditary endocrine neoplasias, including phaeochromocytoma/paraganglioma and medullary thyroid cancer, are caused by autosomal dominant mutations in several familial cancer genes. A common feature of these diseases is the presentation of multiple primary tumours, or multifocal disease representing independent tumour clones that have arisen from the same initiating genetic lesion, but have undergone independent clonal evolution. Such tumours provide an opportunity to discover common co-operative changes required for tumorigenesis, while controlling for the genetic background of the individual...
March 31, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28359493/twin-to-twin-heart-transplantation-a-unique-event-with-a-25-year-follow-up
#13
David Blitzer, Grace Yedlicka, Joshua Manghelli, John Dentel, Randall Caldwell, John W Brown
Solid organ transplantation in pediatric patients has been a reality since 1954, when the first kidney transplantation was successfully performed between identical twins. We report the long-term outcomes, with more than 25 years of follow-up, in a patient born with hypoplastic left heart syndrome (HLHS) who received a heart transplant from a dizygotic twin. While we would not wish for this situation to reoccur, we hope that in reporting it, we can add to the discussion surrounding pediatric heart transplantation and the management of HLHS...
April 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28351718/progress-in-unraveling-the-genetic-etiology-of-rolandic-epilepsy
#14
REVIEW
Weixi Xiong, Dong Zhou
Rolandic epilepsy (RE), or benign epilepsy of childhood with centrotemporal spikes (BECT), is the most frequent idiopathic partial epilepsy syndrome of childhood, where the "idiopathic" implies a genetic predisposition. Although RE has long been presumed to have a genetic component, clinical and genetic studies have shown a complex inheritance pattern. Furthermore, the underlying major genetic influence in RE has been challenged by recent reports of twin studies. Meanwhile, many genes or loci have been shown to be associated the RE/atypical RE (ARE) spectrum, with a higher frequency of causative variants in ARE...
April 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28351037/impact-of-laser-power-and-firing-angle-on-coagulation-efficiency-in-laser-treatment-for-twin-twin-transfusion-syndrome-an-ex-vivo-placenta-study
#15
Joost Akkermans, Loes van der Donk, Suzanne H P Peeters, Sjoerd van Tuijl, Johanna M Middeldorp, Enrico Lopriore, Dick Oepkes
OBJECTIVE: To assess the impact of laser power and firing angle on coagulation efficiency for closing placental anastomoses in the treatment of twin-twin transfusion syndrome. METHODS: We used an ex vivo blood-perfused human placenta model to compare time to complete coagulation using 30 vs. 50 W of neodymium-doped yttrium aluminum garnet laser power and using a firing angle of 90° vs. 45°. Placentas were perfused with pig blood at 5 mL/min. Differences were analyzed using independent-samples t test, Mann-Whitney U test, or χ2 test as appropriate...
March 29, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28351027/re-thinking-elective-single-embryo-transfer-increased-risk-of-monochorionic-twinning-a-systematic-review
#16
Margaret Dziadosz, Mark I Evans
BACKGROUND/OBJECTIVES: Multiple pregnancies have tripled in the United States over the past 3 decades. Attributed to increasing maternal age at delivery but more so assisted reproductive technological advances, an effort has been made to decrease twinning through elective single embryo transfer. We sought to review and evaluate risks of monochorionic twinning as a predictable consequence of increasing utilization of elective single embryo transfer on perinatal outcomes. Primary outcomes included twinning rates, fetal anomalies, growth, preterm birth, and mortality...
March 29, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28335669/the-experience-of-modified-sequential-selective-laser-photocoagulation-of-communicating-vessels-technique-for-twin-twin-transfusion-syndrome
#17
Susumu Murata, Mayumi Takano, Yukiko Kagawa, Masahiro Sumie, Masahiko Nakata
OBJECTIVE: Fetoscopic laser photocoagulation of vascular anastomoses is the essential choice in twin-twin transfusion syndrome (TTTS). We proposed that the modified sequential selective laser photocoagulation of communicating vessels (modified SQLPCV) to clarify the perinatal outcomes in TTTS. METHODS: The modified SQLPCV was designed with the following order: 1, artery-to-artery anastomoses; 2, venous-to-venous anastomoses; 3, artery-to-venous anastomoses from donor to recipient; and 4, artery-to-venous anastomoses from recipient to donor...
March 23, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28324016/cardiorespiratory-fitness-and-adiposity-as-determinants-of-metabolic-health-pooled-analysis-of-two-twin-cohorts
#18
Sakari Jukarainen, René Holst, Christine Dalgård, Päivi Piirilä, Jesper Lundbom, Antti Hakkarainen, Nina Lundbom, Aila Rissanen, Jaakko Kaprio, Kirsten Ohm Kyvik, Thorkild I A Sørensen, Kirsi H Pietiläinen
Context: The joint effects of cardiorespiratory fitness and body composition on metabolic health are not well known. Objective: To examine the associations of cardiorespiratory fitness (CRF), fat free mass index (FFMI) and fat mass index (FMI) with metabolic health in individual twins and controlling for genetic and shared environmental effects by studying monozygotic intrapair differences. Design, setting & participants: Two cross-sectional samples of healthy adult monozygotic and dizygotic twins were drawn from population-based Danish and Finnish national twin registries (n=996 and n=309)...
January 23, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28320252/the-impact-of-laser-surgery-on-angiogenic-and-anti-angiogenic-factors-in-twin-twin-transfusion-syndrome-a-prospective-study
#19
Andrew H Chon, Emiliano R Chavira, Melissa L Wilson, Sue A Ingles, Arlyn Llanes, Ramen H Chmait
OBJECTIVE: To examine the effect of laser surgery on angiogenic and anti-angiogenic factors in patients with twin-twin transfusion syndrome (TTTS). METHODS: Cases of TTTS and uncomplicated monochorionic diamniotic twin pregnancies between 16-26 weeks' gestation were prospectively enrolled into the study. Maternal blood samples were obtained to measure angiogenic factors (vascular endothelial growth factor-A (VEGF), placental-derived growth factor (PlGF), endothelin) and anti-angiogenic factors (soluble fms-like tyrosine kinase (sFlt-1), soluble endoglin (sEng), sFlt-1/PlGF ratio)...
March 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28306541/clinical-characteristics-and-outcome-of-twin-pregnancies-complicated-by-single-intrauterine-death
#20
Qiong Luo, Xiujun Han
AIM: To investigate the clinical characteristics and outcome of twin pregnancies complicated by single intrauterine death and how to improve the outcomes of surviving twins. Three thousand three hundred and eighty-four women who delivered twin pregnancies at Women's Hospital, Zhejiang University, School of Medicine were included. Clinical and demographic data on gestational age, etiology, morbidity and mortality for mothers and fetuses were collected. RESULTS: The median gestational age for detecting a single intrauterine death in twin pregnancy was 29 weeks and the average gestational age of pregnancy termination was 32 weeks...
March 15, 2017: Journal of Perinatal Medicine
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