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https://www.readbyqxmd.com/read/27911332/type-0-spinal-muscular-atrophy-further%C3%A2-delineation-of-prenatal-and%C3%A2-postnatal-features-in-16-patients
#1
Sarah Grotto, Jean-Marie Cuisset, Stéphane Marret, Séverine Drunat, Patricia Faure, Séverine Audebert-Bellanger, Isabelle Desguerre, Vincent Flurin, Anne-Gaëlle Grebille, Anne-Marie Guerrot, Hubert Journel, Gilles Morin, Ghislaine Plessis, Sylvain Renolleau, Joëlle Roume, Brigitte Simon-Bouy, Renaud Touraine, Marjolaine Willems, Thierry Frébourg, Eric Verspyck, Pascale Saugier-Veber
BACKGROUND: Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2 genotype, the most severe genotype compatible with life, is expected to be associated with the most severe form of the disease, called type 0 SMA, defined by prenatal onset. OBJECTIVE: The aim of the study was to review clinical features and prenatal manifestations in this rare SMA subtype. METHODS: SMA patients with the 0SMN1/1SMN2 genotype were retrospectively collected using the UMD-SMN1 France database...
November 29, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27904846/complete-congenital-heart-block-in-a-neonate-with-a-complex-congenital-heart-defect-in-africa
#2
Clovis Nkoke, Edvine Yonta Wawo, Liliane Kuate Mfeukeu, Larissa Makamte, Sandrine Dikosso Edie, Flore Esiene Balana
Congenital heart block (CHB) is rare disorder that has a higher mortality when associated with structural congenital heart defects. Very few cases have been reported in Sub-Saharan Africa (SSA). We present a case of complete CHB associated with a complex congenital heart defect in a neonate in Cameroon. A 1-month-old neonate in Cameroon was referred for the evaluation of bradycardia. The obstetrical ultrasound done during pregnancy revealed fetal bradycardia without further evaluation. Clinical examination showed well a developed neonate with bradycardia at 62 beats/minute, and mild cyanosis with oxygen saturation at 93% at room air...
October 2016: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/27898272/partial-hydatidiform-mole-in-a-phenylketonuria-patient-treated-with-sapropterin-dihydrochloride
#3
Yilmaz Yildiz, Ali Dursun, Aysegul Tokatli, Turgay Coskun, Serap Sivri
Strict control of hyperphenylalaninemia is necessary in pregnant women with phenylketonuria (PKU) in order to prevent phenylalanine embryopathy in the fetus, characterized by intrauterine growth restriction, dysmorphic facies, congenital heart disease, microcephaly and intellectual disability, collectively known as maternal PKU syndrome. Sapropterin dihydrochloride (SD), an alternative or adjunct to dietary therapy in patients with tetrahydrobiopterin (BH4)-responsive PKU, has recently been used in several cases to treat PKU during pregnancy with satisfactory results...
November 29, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27891405/complete-heart-block-in-pregnancy-a-report-of-emergency-caesarean-section-in-a-parturient-without-pacemaker
#4
Vandana Mohapatra, Aparajita Panda, Satyanarayan Behera, Jagadish Chandra Behera
Management of women with Complete Heart Block (CHB) presenting without pacing, during pregnancy and labour is debatable. Temporary pacemakers have been routinely inserted for labour and birth probably to withstand any haemodynamic variations. However, due to lack of large scale prospective studies, the necessity of this procedure has not been objectively assessed. Also, the most appropriate anaesthetic technique for caesarean section in women with CHB is yet to be clarified. We report herein the case of a pregnant woman with CHB who had uneventful emergency caesarean delivery under spinal anaesthesia without temporary pacing...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27886704/position-of-the-academy-of-nutrition-and-dietetics-vegetarian-diets
#5
Vesanto Melina, Winston Craig, Susan Levin
It is the position of the Academy of Nutrition and Dietetics that appropriately planned vegetarian, including vegan, diets are healthful, nutritionally adequate, and may provide health benefits for the prevention and treatment of certain diseases. These diets are appropriate for all stages of the life cycle, including pregnancy, lactation, infancy, childhood, adolescence, older adulthood, and for athletes. Plant-based diets are more environmentally sustainable than diets rich in animal products because they use fewer natural resources and are associated with much less environmental damage...
December 2016: Journal of the Academy of Nutrition and Dietetics
https://www.readbyqxmd.com/read/27878625/reference-ranges-of-fetal-cardiac-biometric-parameters-using-three-dimensional-ultrasound-with-spatiotemporal-image-correlation-m%C3%A2-mode-and-their-applicability-in-congenital-heart-diseases
#6
Giselle Darahem Tedesco, Marilim de Souza Bezerra, Fernanda Silveira Bello Barros, Wellington P Martins, Luciano Marcondes Machado Nardozza, Milene Carvalho Carrilho, Antonio Fernandes Moron, Francisco Herlânio Costa Carvalho, Liliam Cristine Rolo, Edward Araujo Júnior
To determine reference values for fetal heart biometric parameters using the spatiotemporal image correlation (STIC) M mode and their applicability in congenital heart diseases (CHDs). A cross-sectional prospective study was conducted with 300 singleton pregnancies between 20 and 33 + 6 weeks of gestation. Right ventricular wall thickness (RVWT), interventricular septum thickness (IVST), and left ventricular wall thickness (LVWT) were measured off-line using the STIC-M mode with the cursor perpendicular to the interventricular septum...
November 23, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27871237/a-unique-association-of-arrhythmogenic-right-ventricular-dysplasia-and-acute-myocarditis-as-assessed-by-cardiac-mri-a-case-report
#7
Andrea Ponsiglione, Marta Puglia, Carmine Morisco, Luigi Barbuto, Antonio Rapacciuolo, Mario Santoro, Letizia Spinelli, Bruno Trimarco, Alberto Cuocolo, Massimo Imbriaco
BACKGROUND: Arrhythmogenic right ventricular dysplasia (ARVD), is a genetic disorder of the heart, which mainly involves the right ventricle. It is characterized by hypokinetic areas at the free wall of the right ventricle (RV) or both ventricles, where myocardium is replaced by fibrous or fatty tissue. ARVD is an important cause of ventricular arrhythmias in children and young adults. Although the transmission of the disease is based on hereditary, in young adults it may not show any symptoms...
November 21, 2016: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/27869889/-anmco-sicp-sigo-consensus-document-pregnancy-and-congenital-heart-disease
#8
Innocenzo Bianca, Giovanna Geraci, Michele Massimo Gulizia, Gabriele Egidy-Assenza, Chiara Barone, Marcello Campisi, Annalisa Alaimo, Rachele Adorisio, Francesca Comoglio, Silvia Favilli, Gabriella Agnoletti, Maria Gabriella Carmina, Massimo Chessa, Berardo Sarubbi, Maurizio Mongiovì, Maria Giovanna Russo, Sebastiano Bianca, Giuseppe Canzone, Marco Bonvicini, Elsa Viora, Marco Poli
The success of cardiac surgery over the past 50 years has increased numbers and median age of survivors with congenital heart disease (CHD). Adults now represent two-thirds of patients with CHD; in the United States alone the number is estimated to exceed 1 million.In this population many affected women reach reproductive age and wish to have children. While in many CHD patients pregnancy can be accomplished successfully, some special situations with complex anatomy, iatrogenic or residual pathology are associated with an increased risk of severe maternal and fetal complications...
September 2016: Giornale Italiano di Cardiologia
https://www.readbyqxmd.com/read/27861916/sildenafil-therapy-for-fetal-cardiovascular-dysfunction-during-hypoxic-development-studies-in-the-chick-embryo
#9
Nozomi Itani, Katie L Skeffington, Christian Beck, Dino A Giussani
There is a need for developing clinically translatable therapy for preventing fetal origins of cardiovascular disease in pregnancy complicated by chronic fetal hypoxia. Evidence shows that sildenafil protects placental perfusion and fetal growth. However, whether beneficial effects of sildenafil transcend onto the fetal heart and circulation in complicated development is unknown. We isolated the direct effects of sildenafil on the fetus using the chick embryo and hypothesised that sildenafil also protects fetal cardiovascular function in hypoxic development...
November 12, 2016: Journal of Physiology
https://www.readbyqxmd.com/read/27843325/the-role-of-the-multidisciplinary-health-care-team-in-the-management-of-patients-with-marfan-syndrome
#10
REVIEW
Yskert von Kodolitsch, Meike Rybczynski, Marina Vogler, Thomas S Mir, Helke Schüler, Kerstin Kutsche, Georg Rosenberger, Christian Detter, Alexander M Bernhardt, Axel Larena-Avellaneda, Tilo Kölbel, E Sebastian Debus, Malte Schroeder, Stephan J Linke, Bettina Fuisting, Barbara Napp, Anna Lena Kammal, Klaus Püschel, Peter Bannas, Boris A Hoffmann, Nele Gessler, Eva Vahle-Hinz, Bärbel Kahl-Nieke, Götz Thomalla, Christina Weiler-Normann, Gunda Ohm, Stefan Neumann, Dieter Benninghoven, Stefan Blankenberg, Reed E Pyeritz
Marfan syndrome (MFS) is a rare, severe, chronic, life-threatening disease with multiorgan involvement that requires optimal multidisciplinary care to normalize both prognosis and quality of life. In this article, each key team member of all the medical disciplines of a multidisciplinary health care team at the Hamburg Marfan center gives a personal account of his or her contribution in the management of patients with MFS. The authors show how, with the support of health care managers, key team members organize themselves in an organizational structure to create a common meaning, to maximize therapeutic success for patients with MFS...
2016: Journal of Multidisciplinary Healthcare
https://www.readbyqxmd.com/read/27832782/quantitative-evaluation-of-longitudinal-strain-in-layer-specific-myocardium-during-normal-pregnancy-in-china
#11
Juan Cong, Zhibin Wang, Hong Jin, Wugang Wang, Kun Gong, Yuanyuan Meng, Yong Lee
BACKGROUND: The myocardial wall of the left ventricle is a complex, multilayered structure and is not homogenous. The aim of this study was to determine longitudinal strain (LS) in the three myocardial layers in normal pregnant women according to gestation proceedings. METHODS: The advanced two-dimensional speckle tracking echocardiography (2D STE) was performed on 62 women during each pregnancy trimester and 6 to 9 weeks after delivery, while 30 age-matched, healthy, nonpregnant women served as controls...
November 10, 2016: Cardiovascular Ultrasound
https://www.readbyqxmd.com/read/27830098/a-pregnancy-with-severe-hypertrophic-obstructive-cardiomyopathy-after-surgery-for-an-implantable-cardioverter-defibrillator-a-case-report-and-literature-review
#12
Takashi Mitsui, Hisashi Masuyama, Kentaro Ejiri, Kei Hayata, Hiroshi Ito, Yuji Hiramatsu
Hypertrophic obstructive cardiomyopathy (HOCM) is cardiac hypertrophy of ventricular myocardium with left ventricular outflow tract obstruction. We report a pregnancy with HOCM after defibrillator implantation surgery. The patient was a 33-year-old nulligravida and was categorized as New York Heart Association class II. Her brain natriuretic peptide (BNP) level was 724.6 pg/dL at preconception. She received careful pregnancy management. However, because frequent uterine contractions were observed at 25 weeks and 6 days of pregnancy, she was hospitalized, and magnesium sulfate was started as a tocolytic agent...
2016: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27825408/preterm-births-in-peking-union-medical-college-hospital-in-the-past-25-years
#13
Fang Jiang, Jin-Song Gao, Yi-Feng Zhong, Jing Hu, Jian-Qiu Yang, Liang-Kun Ma, Jun-Tao Liu
Objective To investigate the changes in preterm birth rate,its gestational age distribution,and possible contributors in Peking Union Medical College Hospital (PUMCH) over the last 25-year period. Methods The clinical data of premature deliveries,both singleton and twins,in PUMCH from January 1,1990 to December 31,2014 were retrospectively analyzed. We counted the number of premature fetuses and assessed the changes of preterm birth rate and its gestational age distribution (including extremely preterm birth,early preterm birth,and late preterm birth) over time...
October 10, 2016: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/27824616/increased-rates-of-cesarean-sections-and-large-families-a-potentially-dangerous-combination
#14
Ahmed M Saleh, Joachim W Dudenhausen, Badreldeen Ahmed
Rates of cesarean sections have been on the rise over the past three decades all over the world, despite the ideal rate of 10-15% that had been set by the World Health Organization (WHO) in 1985, in Fortaleza, Brazil. This epidemic increase in the rate of cesarean delivery is due to many factors which include, cesarean delivery on request, advanced maternal age at first pregnancy, decrease in number of patients who are willing to try vaginal birth after cesarean delivery, virtual disappearance of vaginal breech delivery, perceived increase in the weight of the fetus and increase in the number of women with chronic medical conditions such as Diabetes Mellitus and congenital heart disease in the reproductive age...
November 8, 2016: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/27817848/-results-of-percutaneous-mitral-balloon-commissurotomy-in-pregnant-women-about-12%C3%A2-cases
#15
I Zairi, K Mzoughi, F Mroua, F Ben Moussa, I Amri, S Kammoun, S Fennira, S Kraiem
INTRODUCTION: Mitral stenosis (MS) is the most common valvular heart disease revealed or exacerbated by pregnancy. Percutaneous mitral balloon commissurotomy (PMC) is currently the treatment of choice when mitral valve morphology is favorable. AIM OF THE STUDY: The purpose of this study is to evaluate the immediate, medium and long term results of percutaneous mitral balloon commissurotomy in pregnant women with a severe symptomatic mitral stenosis despite medical treatment...
November 3, 2016: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/27816232/associations-of-parity-and-age-at-first-pregnancy-with-overall-and-cause-specific-mortality-in-the-cancer-prevention-study-ii
#16
Mia M Gaudet, Brian D Carter, Janet S Hildebrand, Alpa V Patel, Peter T Campbell, Ying Wang, Susan M Gapstur
OBJECTIVE: To evaluate the association of parity, number of live births, and age at first birth with mortality using multivariable-adjusted Cox proportional hazards regression models. DESIGN: Observational cohort. SETTING: Not applicable. PATIENT(S): A total of 424,797 women. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): All-cause and cause-specific mortality. RESULT(S): During median follow-up of 24...
November 2, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27816173/-sex-differences-in-congenital-heart-disease
#17
P Aubry, H Demian
Gender influences the clinical presentation and the management of some acquired cardiovascular diseases, such as coronary artery disease, resulting in different outcomes. Differences between women and men are also noticed in congenital heart disease. They are mainly related to the prevalence and severity of some congenital heart defects at birth, and in adulthood to the prognosis, incidence of Eisenmenger syndrome and risks of pregnancy. The role of gender on the risk of operative mortality of congenital heart surgery remains debated...
November 2, 2016: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/27816157/evaluation-and-management-of-maternal-cardiac-arrhythmias
#18
REVIEW
Torri D Metz, Amber Khanna
Pregnant women often complain of palpitations. The differential diagnosis for new-onset palpitations in pregnancy ranges from benign conditions to life-threatening arrhythmias. Maternal arrhythmias can occur in isolation or in the setting of underlying structural heart disease. Optimal management of maternal cardiac arrhythmias includes identification of the specific arrhythmia, diagnosis of comorbid conditions, and appropriate intervention. In general, management of maternal cardiac arrhythmias is similar to that of the general population...
December 2016: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/27816156/cardiac-lesions-in-the-critical-care-setting
#19
REVIEW
Manisha Gandhi, Amir A Shamshirsaz
The long-held belief that pregnancy is absolutely contraindicated in maternal cardiovascular disease is no longer justifiable using evidence-base medicine. There are some conditions in which pregnancy is contraindicated, and high maternal risk and poor fetal outcome can be predicted. However, in many women with heart disease, a more favorable maternal and fetal outcome is expected. This article focusses on the cardiac conditions that require more attention and have the potential to require observation in the intensive care unit setting...
December 2016: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/27804179/preeclampsia-an-important-female-specific-risk-factor-for-asymptomatic-heart-failure
#20
Chahinda Ghossein-Doha, Jolijn van Neer, Brechtje Wissink, Nicolette Breetveld, Leon J de Windt, Arie Pj van Dijk, Maureen J van der Vlugt, Mirian Ch Janssen, Wieteke M Heidema, Ralph R Scholten, Marc Ea Spaanderman
OBJECTIVES: Preeclampsia (PE) is on the one hand associated with postpartum structural asymptomatic heart disease, consistent with heart failure (HF) stage-B, and on the other hand with conventional cardiovascular (CV) risk factors. With this study we aim to evaluate to which extent PE together with conventional CV risk factors are associated with asymptomatic cardiac abnormalities postpartum. METHODS: In this cross-sectional cohort study, formerly PE women (n = 107) and women with uneventful pregnancies (controls) (n = 41) were invited for CV risk-assessment 4-10 years postpartum...
November 1, 2016: Ultrasound in Obstetrics & Gynecology
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