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https://www.readbyqxmd.com/read/28194760/developmental-psychopathology-in-the-post-genomics-era-substantial-challenges-but-reasons-for-hope
#1
EDITORIAL
Jeffrey M Halperin
One only has to quickly look through the Table of Contents for this issue of JCPP to gain an appreciation of the ever-increasing influence of genetic research in the field of developmental psychopathology. Among the 13 articles in this issue that follow this editorial: two employ large family and/or twin studies to provide compelling behavioral genetic findings bolstering the importance of genes in the emergence of ADHD (Chen, Brikell, Lichtenstein, Serlachius, Kuja-Halkola, Sandin, and Larsson) and level of educational achievement in adolescents (Lewis, Asbury, and Plomin); one paper focuses on cortical development in patients with 22q11...
March 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28185383/spontaneous-coronary-artery-dissection-and-takotsubo-syndrome-the-chicken-or-the-egg-causality-dilemma
#2
Shams Y-Hassan, Raquel Themudo, Eva Maret
Acute coronary syndrome (ACS) including spontaneous coronary artery dissection (SCAD) has been reported to trigger its own clinical twin takotsubo syndrome (TS). The pathogenetic association between SCAD and TS remains to be elucidated. The two diseases afflict predominantly women and both conditions may be triggered by an emotional stress factor and an unusual extreme physical exercise. Herein, we describe a case of 54-year-old woman presenting with ACS caused by an obtuso-marginal SCAD. Concurrently, the patient had typical clinical features and course of mid-apical pattern of TS...
February 10, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28184288/genetics-of-multiple-endocrine-neoplasia-type-1-syndrome-what-s-new-and-what-s-old
#3
REVIEW
Alberto Falchetti
Despite its identification in 1997, the functions of the MEN1 gene-the main gene underlying multiple endocrine neoplasia type 1 syndrome-are not yet fully understood. In addition, unlike the RET-MEN2 causative gene-no hot-spot mutational areas or genotype-phenotype correlations have been identified. More than 1,300 MEN1 gene mutations have been reported and are mostly "private" (family specific). Even when mutations are shared at an intra- or inter-familial level, the spectrum of clinical presentation is highly variable, even in identical twins...
2017: F1000Research
https://www.readbyqxmd.com/read/28174536/exploring-the-pharmacokinetic-profile-of-remifentanil-in-mid-trimester-gestations-undergoing-fetal-intervention-procedures
#4
Judith A Smith, Roopali V Donepudi, Pedro S Argoti, Anita L Giezentanner, Ranu Jain, Noemi Boring, Elisa Garcia, Kenneth J Moise
Background: Indications for surgery during pregnancy have increased. Specifically fetal interventions have increased from conditions that were considered lethal like twin-twin transfusion syndrome and severe fetal anemia to non-lethal conditions like myelomeningocele. The optimal anesthetic agent for in utero surgery is yet to be determined. Success of the procedure is often dictated by the efficacy of the anesthetic to immobilize the fetus without over-sedating mom. Remifentanil is used as preferred agent due to its short half-life however pharmacokinetics in pregnancy is unknown...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28170117/prevention-of-preterm-birth-with-pessary-in-twins-poppt-a-randomized-controlled-trial
#5
Vincenzo Berghella, Lorraine Dugoff, Jack Ludmir
OBJECTIVES: To evaluate if cervical pessary placement prevents PTB in twin gestations with a short midtrimester transvaginal ultrasound (TVU) cervical length (CL). METHODS: Multicenter randomized controlled trial of asymptomatic women with twin gestations with a TVU CL ≤30 mm at 18(0) -27(6) weeks. TVU CL screening was performed at the time of the anatomy scan at 18(0) -23(6) , and at subsequent scheduled ultrasounds prior to 28 weeks. Women with a TVU CL ≤30 mm at 18(0) -27(6) weeks were randomized to receive the Bioteque cup cervical pessary or no pessary...
February 7, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28166369/heterozygous-truncation-mutations-of-the-smc1a-gene-cause-a-severe-early-onset-epilepsy-with-cluster-seizures-in-females-detailed-phenotyping-of-10-new-cases
#6
Joseph D Symonds, Shelagh Joss, Kay A Metcalfe, Suresh Somarathi, Jamie Cruden, Anita M Devlin, Alan Donaldson, Nataliya DiDonato, David Fitzpatrick, Frank J Kaiser, Anne K Lampe, Melissa M Lees, Ailsa McLellan, Tara Montgomery, Vivek Mundada, Lesley Nairn, Ajoy Sarkar, Jens Schallner, Jelena Pozojevic, Ilaria Parenti, Jeen Tan, Peter Turnpenny, William P Whitehouse, Sameer M Zuberi
OBJECTIVE: The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy consistently associated with this phenotype is PCDH19, an X-linked disorder restricted to females, and males with mosaicism. The SMC1A gene, which encodes a structural component of the cohesin complex is also located on the X chromosome. Missense variants and small in-frame deletions of SMC1A cause approximately 5% of Cornelia de Lange Syndrome (CdLS)...
February 6, 2017: Epilepsia
https://www.readbyqxmd.com/read/28163434/aortic-and-pulmonary-artery-calcification-an-unusual-manifestation-of-twin-to-twin-transfusion-syndrome
#7
Sumitra Venkatesh, J Sanyukta, S Jain, S S Prabhu, S Kulkarni
Twin-to-twin transfusion syndrome (TTTS) at times complicates monochorionic twin gestations, resulting in conditions ranging from discordant sizes to fetal demise of one baby. Various types of cardiac defects have been described in the recipient twin of this syndrome. Isolated great artery calcification, i.e. aortic and pulmonary artery calcification is one such uncommon condition associated with TTTS. Calcification of the walls of great vessels may be due to chronic vascular injury sustained as a result of circulatory volume overload in the recipient twin...
January 2017: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/28145909/novel-tbx3-mutation-in-a-family-of-cypriot-ancestry-with-ulnar-mammary-syndrome
#8
George A Tanteles, Nayia Nicolaou, Andreas Syrimis, Rafaella Metaxa, Michael Nicolaou, Violetta Christophidou-Anastasiadou, Nicos Skordis
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder resulting from TBX3 haploinsufficiency. It typically affects limb, apocrine gland, hair, tooth and genital development and shows marked intrafamilial and interfamilial variability in phenotypic expression. We report a family (twin brothers and their father) affected with UMS because of a novel TBX3 mutation. The twin brothers showed classical features of UMS, whereas their father was mildly affected. The c.1423C>T (p.Q475*) nonsense mutation in exon 6 of the TBX3 gene identified in the patients by targeted Sanger sequencing is predicted to lead to premature termination of translation...
January 31, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28137478/gender-balance-in-patients-with-systemic-lupus-erythematosus
#9
REVIEW
Audrey A Margery-Muir, Christine Bundell, Delia Nelson, David M Groth, John D Wetherall
Factors are reviewed that contribute to the contemporary view of a disproportionate prevalence and incidence of SLE in females. Recent studies on the epidemiology of SLE report that global incidences and prevalences of SLE for Caucasian and Black populations are of the order of 5.5 and 13.1 per year and 81 and 212 per 100,000 persons respectively. Both parameters displayed age dependent variation over a 90-year lifespan. The female to male (F:M) incidence of SLE varied with age, being approximately 1 during the first decade of life, followed by a sharp increase to 9 during the 4th decade, thence declining in subsequent decades before an increase during the 7th or 8th decade...
January 27, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28135128/associations-between-adiposity-and-metabolic-syndrome-over-time-the-healthy-twin-study
#10
Yun-Mi Song, Joohon Sung, Kayoung Lee
BACKGROUND: We evaluated the association between changes in adiposity traits including anthropometric and fat mass indicators and changes in metabolic syndrome traits including metabolic syndrome clustering and individual components over time. We also assessed the shared genetic and environmental correlations between the two traits. METHODS: Participants were 284 South Korean twin individuals and 279 nontwin family members had complete data for changes in adiposity traits and metabolic syndrome traits of the Healthy Twin study...
January 30, 2017: Metabolic Syndrome and related Disorders
https://www.readbyqxmd.com/read/28130929/use-of-antenatal-corticosteroids-in-special-circumstances-a-comprehensive-review
#11
Everett F Magann, Kjell Haram, Songthip Ounpraseuth, Jan Helge Mortensen, Horace J Spencer, John C Morrison
OBJECTIVE: To determine in pregnancies complicated by preterm premature rupture of membranes (PPROM), hypertension, intrauterine growth restriction, multi-fetal gestations and pregnancies 23- 26 weeks≥ 34 weeks gestation whether antenatal corticosteroids benefit the fetus. DATA SOURCES: Literature review using PubMed, Web of Science, Clinical trials. gov, Cochrane Database of Systematic Reviews (1990 - 2015). METHODS OF STUDY SELECTION: Search terms linked special circumstances with corticosteroids...
January 28, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28126652/a-de-novo-mutation-in-the-x-linked-pak3-gene-is-the-underlying-cause-of-intellectual-disability-and-macrocephaly-in-monozygotic-twins
#12
Jozef Hertecant, Makanko Komara, Aslam Nagi, Olfat Al-Zaabi, Waseem Fathallah, Hong Cui, Yaping Yang, Christine M Eng, Mohammad Al Sorkhy, Mohammad A Ghattas, Lihadh Al-Gazali, Bassam R Ali
Pathogenic variants in theP21 protein (Cdc42/Rac)-activated kinase 3gene (PAK3) lead to a rare non syndromic X-linked intellectual disability. The protein encoded by this gene forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1 proteins which then mediates a variety of cellular processes. So far, mutations in PAK3 gene have been reported in few families affected with intellectual disability associated with neurological manifestations such as speech defect, behavioral problem, brain structural abnormalities, microcephaly and cerebral palsy...
January 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28114847/virtual-three-dimensional-placentoscopy-a-new-approach-to-assess-residual-anastomoses-following-laser-photocoagulation-in-twin-to-twin-transfusion-syndrome
#13
Roberto Noya Galluzo, Mario Júlio Franco, Leila Wessler Faust, Karine Souza Dacorégio, Jair Roberto da Silva Braga, Heron Werner, Edward Araujo Júnior
Twin-to-twin transfusion syndrome (TTTS) complicates 10% of monochorionic twin pregnancies and it is consequence of an unbalanced exchange blood through the vascular anastomoses at placental surface. If not treated, mortality rates in TTTS may be as high as 80 to 100%. Laser photocoagulation of the placental anastomoses is the first treatment option, however in some situations the damage of the placenta in the postpartum may become difficult the residual anastomoses identification. We propose a new non-invasive technique to assess the residual anastomoses using computed tomography (CT) scan data to generate a three-dimensional (3D) virtual placentoscopy...
January 23, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28097444/obstetric-outcome-of-vanishing-twins-syndrome-a-systematic-review-and-meta-analysis
#14
REVIEW
Ling Sun, Ling X Jiang, Heng Z Chen
PURPOSE: Due to the high number of multiple embryo transfers into the uterus performed in assisted reproductive technology treatment (ART), the incidences of twin pregnancy and of vanishing twin syndrome (VTS) are correspondingly high. A number of studies have described the obstetric outcomes of the remaining fetus produced after the other twin had vanished compared with a singleton at the start following ART, but the results are mixed and contradictory. We performed a systematic review of the existing studies to explore the actual obstetric outcome of VTS to allow physicians to adequately advise their patients...
January 17, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28096099/high-saturated-fat-diet-increases-circulating-angiotensin-converting-enzyme-which-is-enhanced-by-the-rs4343-polymorphism-defining-persons-at-risk-of-nutrient-dependent-increases-of-blood-pressure
#15
Rita Schüler, Martin A Osterhoff, Turid Frahnow, Anne-Cathrin Seltmann, Andreas Busjahn, Stefan Kabisch, Li Xu, Alexander S Mosig, Joachim Spranger, Matthias Möhlig, Silke Hornemann, Michael Kruse, Andreas F H Pfeiffer
BACKGROUND: Angiotensin-converting enzyme (ACE) plays a major role in blood pressure regulation and cardiovascular homeostasis. Contrary to the assumption that ACE levels are stable, circulating ACE has been shown to be altered in obesity and weight loss. We sought to examine effects of a high-saturated-fat (HF) diet on ACE within the NUtriGenomic Analysis in Twins (NUGAT) study. METHODS AND RESULTS: Forty-six healthy and nonobese twin pairs initially consumed a carbohydrate-rich, low-fat diet over a period of 6 weeks to standardize for nutritional behavior prior to the study, followed by 6 weeks of HF diet under isocaloric conditions...
January 17, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28095086/retinal-findings-and-a-novel-tinf2-mutation-in-revesz-syndrome-clinical-and-molecular-correlations-with-pediatric-retinal-vasculopathies
#16
Mrinali P Gupta, Katherine E Talcott, David Y Kim, Suneet Agarwal, Shizuo Mukai
BACKGROUND: Revesz syndrome is a telomere disorder in the dyskeratosis congenita (DKC) spectrum characterized by exudative retinopathy, bone marrow failure, neuroradiographic abnormalities, and integumentary findings. MATERIALS/METHODS: We report the ophthalmologic findings, documented by examinations under anesthesia with clinical photography and fluorescein angiography, as well as the systemic manifestations and genetic and molecular testing, in identical twins with Revesz syndrome, and compare and contrast these features to those of other pediatric retinal vasculopathies...
January 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28090804/choline-acetyltransferase-may-contribute-to-the-risk-of-tourette-syndrome-combination-of-family-based-analysis-and-case-control-study
#17
Xiuling Yang, Wenmiao Liu, Mingji Yi, Ru Zhang, Yinglei Xu, Zuzhou Huang, Shiguo Liu, Tang Li
OBJECTIVES: Twin and family analyses have revealed a genetic contribution to Tourette syndrome and postmortem studies have raised the intriguing possibility of a reduction in cholinergic interneuronsin TS patients. METHODS: We selected five tag SNPs (rs100824791, rs12264845, rs1880676, rs3793790 and rs3793798) of Choline Acetyltransferase (CHAT) from the Han Chinese population Hapmap database. Genotyping was conducted on 401 TS nuclear family trios and 405 control subjects...
January 16, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/28089975/in-vitro-fertilization-in-37-women-with-systemic-lupus-erythematosus-or-antiphospholipid-syndrome-a-series-of-97-procedures
#18
Pauline Orquevaux, Agathe Masseau, Véronique Le Guern, Vanessa Gayet, Danièle Vauthier, Gaelle Guettrot-Imbert, Du Le Thi Huong, Bertrand Wechsler, Nathalie Morel, Patrice Cacoub, Jean-Loup Pennaforte, Jean-Charles Piette, Nathalie Costedoat-Chalumeau
OBJECTIVE: To compile and assess data about complication and success rates for in vitro fertilization (IVF) of women with systemic lupus erythematosus (SLE) and/or antiphospholipid syndrome (APS). To date, such data are sparse. METHODS: This retrospective study described women with SLE and/or APS who have had at least 1 IVF cycle. RESULTS: Thirty-seven women with SLE (n = 23, including 8 with antiphospholipid antibodies), SLE with APS (n = 4), or primary APS (n = 10) underwent 97 IVF procedures...
January 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28068594/prevention-of-spontaneous-preterm-birth-guidelines-for-clinical-practice-from-the-french-college-of-gynaecologists-and-obstetricians-cngof
#19
REVIEW
Loïc Sentilhes, Marie-Victoire Sénat, Pierre-Yves Ancel, Elie Azria, Guillaume Benoist, Julie Blanc, Gilles Brabant, Florence Bretelle, Stéphanie Brun, Muriel Doret, Chantal Ducroux-Schouwey, Anne Evrard, Gilles Kayem, Emeline Maisonneuve, Louis Marcellin, Stéphane Marret, Nicolas Mottet, Sabine Paysant, Didier Riethmuller, Patrick Rozenberg, Thomas Schmitz, Héloïse Torchin, Bruno Langer
In France, 60,000 neonates are born preterm every year (7.4%), half of them after the spontaneous onset of labor. Among preventable risk factors of spontaneous prematurity, only cessation of smoking is associated with decreased prematurity (level of evidence [LE]1). It is therefore recommended (Grade A). Routine screening and treatment of vaginal bacteriosis is not recommended in the general population (Grade A). The only population for which vaginal progesterone is recommended is that comprising asymptomatic women with singleton pregnancies, no history of preterm delivery, and a short cervix at 16-24 weeks of gestation (Grade B)...
December 30, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28067007/vaginal-progesterone-decreases-preterm-birth-and-neonatal-morbidity-and-mortality-in-women-with-a-twin-gestation-and-a-short-cervix-an-updated-meta-analysis-of-individual-patient-data
#20
REVIEW
Roberto Romero, Agustin Conde-Agudelo, Waleed El-Refaie, Line Rode, Maria L Brizot, Elcin Cetingoz, Vicente Serra, Eduardo Da Fonseca, Mohamed S Abdelhafez, Ann Tabor, Alfredo Perales, Sonia S Hassan, Kypros H Nicolaides
OBJECTIVE: To assess the efficacy of vaginal progesterone for the prevention of preterm birth and neonatal morbidity and mortality in asymptomatic women with a twin gestation and a sonographic short cervix (cervical length ≤25 mm) in the midtrimester. METHODS: Updated systematic review and meta-analysis of individual patient data from randomized controlled trials comparing vaginal progesterone with placebo/no treatment in women with a twin gestation and a midtrimester sonographic cervical length ≤25 mm...
January 9, 2017: Ultrasound in Obstetrics & Gynecology
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