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Congenital lupus

Robert T Means
Pure red cell aplasia (PRCA) is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. Diamond-Blackfan anemia is a congenital form of PRCA. Acquired PRCA may be either a primary disorder or secondary to some other disorder or agent. Primary acquired PRCA is an autoimmune disorder that is frequently antibody-mediated. Myelodysplastic syndromes may also present with the morphologic appearance of PRCA. Secondary acquired PRCA may be associated with collagen vascular/autoimmune disorders such as systemic lupus erythematosus; lymphoproliferative disorders such as chronic lymphocytic leukemia or large granular lymphocyte leukemia; infections, particularly B19 parvovirus; thymoma and other solid tumors; or a variety of other disorders, drugs, or toxic agents...
November 24, 2016: Blood
Vishwakarma Pratibha, Shankar Kundavi, Varma R Thangam, S Ramakrishnan
No abstract text is available yet for this article.
October 2016: Journal of Obstetrics and Gynaecology of India
Dey Madhusudan, Agarwal Raju, Nambula Vijaya
BACKGROUND: Autoimmune fetal congenital heart block (CHB) is the most severe manifestation of neonatal lupus, and it is seen when maternal autoimmune antibodies cross the placenta and damage the AV node of the fetus. CHB is mainly associated with maternal SLE with anti-Ro/SSA- and anti-La/SSB-positive status, and incidence of CHB increases when both the antibodies are present. This study was conducted to know the incidence of fetal CHB in patients of SLE who had ANA, anti-Ro/SSA and anti-La/SSB positivity...
October 2016: Journal of Obstetrics and Gynaecology of India
J G Yeo, J Leong, T Arkachaisri, Y Cai, B H D Teo, J H T Tan, L Das, J Lu
Effective clearance of apoptotic cells by phagocytes prevents the release of intracellular alarmins and manifestation of autoimmunity. This prompt efferocytosis is complemented by intracellular proteolytic degradation that occurs within the apoptotic cells and in the efferosome of the phagocytes. Although the role of extracellular proteases in apoptotic cells clearance is unknown, the strong association of congenital C1s deficiency with Systemic Lupus Erythematosus highlights the protective nature that this extracellular protease has against autoimmunity...
2016: Cell Death Discovery
Ida Dzifa Dey, Jerry Coleman, Harriet Kwarko, Michael Mate-Kole
OBJECTIVE: To study maternal and fetal outcomes in Ghanaian women with systemic lupus erythematosus (SLE). METHODS: Retrospective study of pregnancies in women with SLE in a single centre in Ghana. RESULTS: The mean age was 30.1 years and all were nulliparous. Two out of the seven pregnancies were in disease remission at the time of booking. Nephritis without renal impairment was present in 7 pregnancies (6 women). One woman developed intrapartum eclampsia...
June 2016: Ghana Medical Journal
Kenichiro Uchida, Mitsuharu Hosono, Toshihiko Shibata, Daisuke Kaku, Tomonori Yamamoto, Takafumi Terada, Naoki Shinyama, Yasumitsu Mizobata
BACKGROUND: Mobile intra-aortic thrombus without atherosclerosis, aneurysm, or congenital coagulopathy is very rare, and there are few reports especially in young or middle-aged patients. Furthermore, there are presently no established guidelines or common strategies for the treatment of mobile intra-aortic thrombus. In this case report, we describe the first case of intra-aortic thrombus caused by secondary erythrocytosis and describe the recommended treatment strategy for intra-aortic thrombus...
2016: Journal of Medical Case Reports
Marisa S Klein-Gitelman
Neonatal lupus results from the passive transfer of autoantibodies; however, this transfer is not sufficient to cause disease. This article reviews clinical presentation with a focus on autoimmune-mediated congenital heart disease. Recent data looking for additional disease mechanisms and biomarkers as well as latest information on interventions will be reviewed. Our understanding of this rare disease is often dependent on patient participation in disease registries and biorepositories. Future participation in registries including descriptive as well as biophysical data is critical to our knowledge...
September 2016: Current Rheumatology Reports
Miguel Ángel Saavedra, Dafhne Miranda-Hernández, Antonio Sánchez, Sara Morales, Pilar Cruz-Domínguez, Gabriela Medina, Luis Javier Jara
To compare the maternal and fetal outcomes between childhood-onset and adult-onset systemic lupus erythematosus (SLE), we reviewed the medical records of SLE pregnant women treated from January 2005 to August 2013. For comparison, patients were allocated to one of the two groups, those pregnant patients with SLE onset before 18 years of age (childhood-onset) and ≥18 years (adult-onset). The patients were evaluated at least once in each trimester and postpartum. Relevant maternal and fetal outcomes were extracted, such as lupus flare, preeclampsia/eclampsia, rate of liveborns, fetal loss (spontaneous abortion and stillbirth), term delivery, preterm birth, neonatal death, low birth weight, low birth weight at term, and congenital malformations...
October 2016: Rheumatology International
Eva DE Caluwé, Alexander VAN DE Bruaene, Rik Willems, Els Troost, Marc Gewillig, Filip Rega, Werner Budts
BACKGROUND: Children from mothers with systemic lupus erythematosus are frequently born with congenital heart block. This study aimed at evaluating long-term outcome because long-term data are scarce. METHODS: In the database of pediatric and congenital heart disease (University Hospitals Leuven), 19 children from systemic lupus erythematosus mothers and who were born with or developed atrioventricular block were identified. All records were reviewed for disease course and outcome...
September 2016: Pacing and Clinical Electrophysiology: PACE
Thitiwat Chaikul, Suthida Chaithirayanon
Neonatal lupus erythematous (NLE) is a rare autoimmune disease caused by placental transfer of maternal anti-SSA/Ro or anti-SSB/La antibodies. It usually presents with transient cutaneous lesions, congenital heart block and other systemic symptoms. The authors report a case of neonatal lupus erythematosus who presented with targetoid-like lesions on both feet.
November 2015: Journal of the Medical Association of Thailand, Chotmaihet Thangphaet
Jianxun Wang, Masayuki Mizui, Li-Fan Zeng, Roderick Bronson, Michele Finnell, Cox Terhorst, Vasileios C Kyttaris, George C Tsokos, Zhong-Yin Zhang, Maria I Kontaridis
Systemic lupus erythematosus (SLE) is a devastating multisystemic autoimmune disorder. However, the molecular mechanisms underlying its pathogenesis remain elusive. Some patients with Noonan syndrome, a congenital disorder predominantly caused by gain-of-function mutations in the protein tyrosine phosphatase SH2 domain-containing PTP (SHP2), have been shown to develop SLE, suggesting a functional correlation between phosphatase activity and systemic autoimmunity. To test this directly, we measured SHP2 activity in spleen lysates isolated from lupus-prone MRL/lpr mice and found it was markedly increased compared with that in control mice...
June 1, 2016: Journal of Clinical Investigation
Yingfang Yu, Lizhong Du, Jiarong Pan, Jiyan Zheng, An Chen, Lihua Chen
BACKGROUND: Neonatal lupus erythematosus (NLE) is not a common disease. The death rate of complete congenital heart block (CCHB), which is the most severe clinical manifestation, is as high as 20% to 30%, so early recognition of infants at risk is important. OBJECTIVES: To investigate the clinical features and long-term prognosis of NLE. METHODS: Twenty-five cases with NLE were reviewed. The clinical manifestations of patients and their mothers were summarized and analyzed...
June 2016: Asian Pacific Journal of Allergy and Immunology
Jing-Jing Wang, Jian-Hua Mao
BACKGROUND: Congenital nephrotic syndrome (CNS), defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and edema presenting in the first 0-3 months of life, may be caused by congenital syphilis, toxoplasmosis, or congenital viral infections (such as cytomegalovirus). However, the majority of CNS cases are caused by monogenic defects of structural proteins that form the glomerular filtration barrier in the kidneys. Since 1998, an increasing number of genetic defects have been identified for their involvements in the pathogenesis of CNS, including NPHS1, NPHS2, WT1, PLCE1, and LAMB2...
May 2016: World Journal of Pediatrics: WJP
Hirokazu Arai, Hatsushi Nakajima, Nao Ogino, Tomoo Ito, Ryoji Goto, Yurina Kameta, Natsuki Ono, Naoko Hosoya, Hiroyuki Sanada, Tsutomu Takahashi
This report describes the case of a very low-birth-weight male infant with neonatal lupus erythematosus. His mother had Sjögren's syndrome, and her previous child had suffered a complete heart block. Accordingly, maternal steroid (betamethasone) therapy was administered to prevent a congenital heart block for 15 weeks (from 13 to 27 weeks' gestation). At 28 weeks' gestation, the mother was weaned off the steroid therapy, and an emergency cesarean section was carried out at 29 weeks and 6 days' gestation because of a nonreassuring fetal status (NRFS)...
June 2, 2016: Modern Rheumatology
E Cozzani, Arianna Fay Agnoletti, F Pappalardo, I Schiavetti, A Torino, A Parodi
It is known that anti-Ro/SSA positivity leads to higher risk of miscarriage and fetal cardiac malformations. Particularly, anti-p200 antibodies against a finer specificity of the Ro/SSA antigen, have been associated with congenital heart block. The aim of the study was to assess the frequency of anti-p200 among female patients with different connective tissue diseases and, among these, the relevance of anti-p200 values in patients with cutaneous diseases compared to systemic diseases. Anti-p200 were investigated in 110 anti-Ro/SSA positive female sera, sent to our laboratory between 2008 and 2014 with suspect of connective disease, by using ELISA testing...
March 2016: Archives of Dermatological Research
P Brito-Zerón, P M Izmirly, M Ramos-Casals, J P Buyon, M A Khamashta
Autoimmune congenital heart block (ACHB) is an immune-mediated cardiac disease included among the manifestations collectively referred to as neonatal lupus. The placental transference of maternal Ro/La autoantibodies may damage the conduction tissues during fetal development leading to blocking of signal conduction at the atrioventricular (AV) node in an otherwise structurally normal heart. Irreversible complete AV block is the main cardiac manifestation of ACHB, but some babies may develop endocardial fibroelastosis, valvular insufficiency, and/or frank cardiomyopathies with significantly reduced cardiac function requiring transplant...
February 2016: Lupus
H J Reich, M Awad, A Ruzza, M A De Robertis, D Ramzy, N Nissen, S Colquhoun, F Esmailian, A Trento, J Kobashigawa, L S Czer
PURPOSE: Combined heart-liver transplantation is an increasingly accepted treatment for select patients with heart and liver disease. Despite growing optimism, heart-liver transplantation remains an infrequent operation. We report our institutional experience with heart-liver transplantation. METHODS: All combined heart-liver transplantations at Cedars-Sinai Medical Center from 1998-2014 were analyzed. Primary outcomes were patient and graft survival and secondary outcomes included rejection, infection, reoperation, length of stay, and readmission...
November 2015: Transplantation Proceedings
Sylvia Abadir, Anne Fournier, Suzanne J Vobecky, Charles V Rohlicek, Philippe Romeo, Paul Khairy
BACKGROUND: Congenital atrioventricular block is a well-established immunologic complication of maternal systemic lupus erythematosus. We sought to further characterize the electrophysiological manifestations of maternal systemic lupus erythematosus on neonatal atria. METHODS AND RESULTS: Cases of isolated congenital atrioventricular block treated at our center over the past 41 years were identified. Data were extracted from clinical charts, pacemaker interrogations, ECGs, echocardiograms, and histopathological reports, when available...
December 2015: Journal of the American Heart Association
Amre Nouh, Jodi Speiser, José Biller
A variety of neurologic diseases have cutaneous manifestations. These may precede, coincide with, or follow the neurologic findings. An array of autoimmune, genetic, and environmental factors play a role in expression and severity of the neurologic burden in these conditions. This chapter emphasizes congenital and genetic disorders, but we also discuss the pathophysiology and manifestation of various acquired neurocutaneous disorders with an emphasis Behcet's disease, dermatomyositis, Sjögren's syndrome, systemic lupus erythematosus, scleroderma, Parry-Romberg syndrome and Degos disease...
2015: Handbook of Clinical Neurology
Sema Tanriverdi, Zulal Ulger, Betul Siyah Bilgin, Nilgun Kultursay, Mehmet Yalaz, Yuksel Atay, Ozge Altun Koroglu
INTRODUCTION: Neonatal lupus syndrome (NLS) is a passively acquired autoimmune condition due to the transplacental passage of maternal anti-Ro/SSA and anti-La/SSB antibodies in mothers with systemic lupus erythematosus (SLE), and congenital complete heart block (CHB) is its most serious manifestation. Skin and hepatic involvement may occur in later infancy. CASE PRESENTATION: A term infant with fetal bradycardia, detected at the 23rd gestational age, was diagnosed with CHB due to NLS and was successfully treated with a permanent epicardial pacemaker...
September 2015: Iranian Red Crescent Medical Journal
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