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Neonatal cardiac disorders

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https://www.readbyqxmd.com/read/29871471/feeding-dysfunctions-and-failure-to-thrive-in-neonates-with-congenital-heart-diseases
#1
Giovanna Mangili, Elena Garzoli, Youcef Sadou
Congenital heart disease (CHD) is the most common neonatal congenital malformation. The variety and severity of clinical presentation depend on the cardiac structures involved and their functional impact. The management of newborns with CHD requires a multidisciplinary approach, in which the nutritional aspect plays an important role. An adequate caloric intake during either preand post-surgical period, in fact, improves the outcome of these patients. In addition, the failure to thrive of these children in childhood has been related to long-term cognitive delay (attention deficit disorders, aggressive behaviour and poor social and emotional development)...
May 23, 2018: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
https://www.readbyqxmd.com/read/29866251/a-newborn-with-rare-mckusick-syndrome
#2
Alia Halim, Tehreem Afzal, Sana Fatima, Sadia Riaz
McKusick-Kaufman Syndrome (MKKS) is one of rare syndromes which presents as polydactyly, hydrometrocolpos (HMC) and cardiac anomalies. This autosomal recessive disorder occurs due to mutations in MKKS gene. It is characterised predominantly by genitourinary and digit abnormalities. The diagnosis can be made on clinical findings; however, it is important to rule out Bardet-Biedl syndrome before making the definitive diagnosis. Treatment of MKKS revolves around treatment of its manifestations and complications...
June 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29845825/managing-fertile-women-under-lithium-treatment-the-challenge-of-a-teratology-information-service
#3
Caterina Neri, Carmen De Luca, Luisa D'oria, Angelo Licameli, Marta Nucci, Marcella Pellegrino, Alessandro Caruso, Marco De Santis
BACKGROUND: The objective of the present study is to review the literature regarding the management of fertile patients under lithium treatment for bipolar disorder and to report the experience of our Teratology Information Service over the past thirteen years in managing women treated with lithium during preconception, pregnancy and breastfeeding. METHODS: This research focuses on a selective review of the literature and a retrospective survey has been carried out on fertile women under lithium treatment who called our service at A...
June 2018: Minerva Ginecologica
https://www.readbyqxmd.com/read/29782383/genetic-testing-of-xy-newborns-with-a-suspected-disorder-of-sex-development
#4
Malika Alimussina, Louise Ann Diver, Ruth McGowan, Syed Faisal Ahmed
PURPOSE OF REVIEW: The current review focuses on the neonatal presentation of disorders of sex development, summarize the current approach to the evaluation of newborns and describes recent advances in understanding of underlying genetic aetiology of these conditions. RECENT FINDINGS: Several possible candidate genes as well as other adverse environmental factors have been described as contributing to several clinical subgroups of 46,XY DSDs. Moreover, registry-based studies showed that infants with suspected DSD may have extragenital anomalies and in 46,XY cases, being small for gestational age (SGA), cardiac and neurological malformations are the commonest concomitant conditions...
May 17, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29776940/successful-treatment-of-fulminant-neonatal-enteroviral-myocarditis-in-monochorionic-diamniotic-twins-with-cardiopulmonary-support-intravenous-immunoglobulin-and-pocapavir
#5
Shahnawaz M Amdani, Hannah S Kim, Anthony Orvedahl, Audrey Odom John, Ahmed Said, Kathleen Simpson
Neonatal cardiogenic shock most commonly occurs due to critical congenital heart disease, sepsis, metabolic disorder or arrhythmias. In particular, enterovirus infections are common in the neonatal period, and patients can present with fulminant myocarditis. Early recognition is imperative due to its high morbidity and mortality without prompt and aggressive treatment. We present the successful treatment of fulminant neonatal enteroviral myocarditis in a pair of monochorionic diamniotic twins with cardiopulmonary support, intravenous immunoglobulin and pocapavir, an enteroviral capsid inhibitor...
May 18, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29605340/endoscopic-percutaneous-suture-lateralization-for-neonatal-bilateral-vocal-fold-immobility
#6
Glenda Lois Montague, Randall A Bly, Garani S Nadaraja, David E Conrad, Sanjay R Parikh, Dylan K Chan
OBJECTIVE: Bilateral vocal-fold immobility (BFVI) is a rare but significant cause of severe respiratory distress in neonates. The primary aim of treatment is to provide an adequate airway while minimizing adverse effects such as aspiration and dysphonia. Our objective here is to describe the outcomes of a series of neonates undergoing percutaneous endoscopic suture lateralization for BVFI using a novel technique. METHODS: In this retrospective case series, we present 6 neonates (mean age: 18 days) with BVFI from three tertiary academic medical centers...
May 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29554646/deubiquitinase-inhibitor-auranofin-attenuated-cardiac-hypertrophy-by-blocking-nf-%C3%AE%C2%BAb-activation
#7
Ming Hu, Zhenhui Zhang, Bin Liu, Shuangwei Zhang, Renjie Chai, Xiaohua Chen, Tianyu Kong, Fangcheng Zhang, Jingzhi Zhang, Shiming Liu, Ningning Liu
BACKGROUND/AIMS: Cardiac hypertrophy is a major outcome and compensatory response of the cardiovascular system to hemodynamic and additional stress responses that ultimately lead to heart failure. Auranofin (Aur) has been used for treating rheumatic arthritis for several decades. Aur is a 19S proteasome-associated deubiquitinase inhibitor, and inhibition of the proteasome is speculated to reverse cardiac hypertrophy. However, the role of the deubiquitinases, especially 19S proteasome-associated deubiquitinases, in the regulation of cardiac remodeling remains poorly understood...
2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29529539/evolution-of-a-rare-ecg-pattern-in-an-aggressive-case-of-neonatal-tuberous-sclerosis-complex
#8
Federica Iezzi, Andrea Quarti, Alessandro Capestro, Francesca Chiara Surace, Marco Pozzi
INTRODUCTION: Rhabdomyomas are the most frequent cardiac tumors in children. Furthermore, they are often associated to tuberous sclerosis complex, an autosomal dominant neurocutaneous disorder characterized by tumor-like malformations that involve many organ systems. PRESENTATION OF THE CASE: We describe a rare ECG pattern in a severe case of neonatal tuberous sclerosis complex. DISCUSSION: In the presence of significant rhabdomyomatosis related to tuberous sclerosis, multiple clusters of rhabdomyoma-like cells can infiltrate the myocardium, with increased fibrosis areas...
2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29504333/spectrum-of-congenital-heart-disease-in-full-term-neonates
#9
Saima Bibi, Syed Yasir Hussain Gilani, Shawana Bibi
BACKGROUND: Congenital heart disease is a significant problem world over especially in neonates. Early diagnosis and prompt interventions in neonatal period precludes the mortality associated with this disorder. The objective of this study was to highlight the diversity of congenital cardiac defects in our region so that appropriate interventions are devised to minimize significant morbidity and mortality associated with this disorder. METHODS: This descriptive cross-sectional study was conducted at the Neonatology Unit of Department of Paediatrics, Ayub Teaching Hospital from January 2015 to December 2016...
January 2018: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/29429769/neurodevelopmental-outcomes-of-infants-with-esophageal-atresia-and-tracheoesophageal-fistula
#10
Wegdan Mawlana, Paul Zamiara, Hilary Lane, Margaret Marcon, Eveline Lapidus-Krol, Priscilla Pl Chiu, Aideen M Moore
BACKGROUND: Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is a complex disorder, and most outcome data are confined to mortality and feeding-related morbidities. Our objective was to examine mortality, growth and neurodevelopmental outcomes in a large recent cohort of infants with EA/TEF. METHODS: Single center study of EA/TEF infants referred from January 2000 to December 2015. Data collected included associated defects, neonatal morbidity and mortality and growth and neurodevelopmental outcomes at age 12-36months...
January 31, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29392082/apelin-ameliorates-high-glucose-induced-downregulation-of-connexin-43-via-ampk-dependent-pathway-in-neonatal-rat-cardiomyocytes
#11
Xiaoting Li, Lu Yu, Jing Gao, Xukun Bi, Juhong Zhang, Shiming Xu, Meihui Wang, Mengmeng Chen, Fuyu Qiu, Guosheng Fu
Diabetes Mellitus is a common disorder, with increasing risk of cardiac arrhythmias. Studies have shown that altered connexin expression and gap junction remodeling under hyperglycemia contribute to the high prevalence of cardiac arrhythmias and even sudden death. Connexin 43 (Cx43), a major protein that assembles to form cardiac gap junctions, has been found to be downregulated under high glucose conditions, along with inhibition of gap junctional intercellular communication (GJIC). While, apelin, a beneficial adipokine, increases Cx43 protein expression in mouse and human embryonic stem cells during cardiac differentiation...
February 2018: Aging and Disease
https://www.readbyqxmd.com/read/29362619/kosovo-s-experience-for-children-with-feeding-difficulties-after-cardiac-surgery-for-congenital-heart-defect
#12
Ramush Bejiqi, Ragip Retkoceri, Hana Bejiqi, Arlinda Maloku, Armend Vuçiterna, Naim Zeka, Abdurrahim Gerguri, Rinor Bejiqi
BACKGROUND: A feeding disorder in infancy and during childhood is a complex condition involving different symptoms such as food refusal and faddiest, both leading to a decreased food intake. AIM: We aimed to assess the prevalence and predictor factors of feeding difficulties in children who underwent cardiac open heart surgery in neonatal period and infancy. We address selected nutritional and caloric requirements for children after cardiac surgery and explore nutritional interdependence with other system functions...
December 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29345153/selective-serotonin-reuptake-inhibitor-use-in-pregnant-women-pharmacogenetics-drug-drug-interactions-and-adverse-effects
#13
REVIEW
Asher Ornoy, Gideon Koren
Possible negative effects of selective serotonin reuptake inhibitors (SSRIs) in pregnancy relate to congenital anomalies, negative perinatal events and neurodevelopmental outcome. Many studies are confounded by the underlying maternal disease and by pharmacogenetic and pharmacokinetic differences of these drugs. Areas covered: The possible interactions of SSRIs and serotonin and norepinephrine reuptake inhibitors with other drugs and the known effects of SSRIs on congenital anomalies, perinatal and neurodevelopmental outcome...
March 2018: Expert Opinion on Drug Metabolism & Toxicology
https://www.readbyqxmd.com/read/29285173/rapamycin-therapy-for-neonatal-tuberous-sclerosis-complex-with-cardiac-rhabdomyomas-a-case-report-and-review
#14
Shanshan Mao, Qi Long, Huijia Lin, Jinling Liu
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease that varies greatly in its expression. The current study reports a novel case of TSC caused by a TSC2 mutation ( TSC2c.1642_1643insA or TSC2p.K549fsX589 ), in which multiple cardiac rhabdomyomas were detected by fetal echocardiography in week 31 of pregnancy. The infant was delivered successfully; however, seizures began 16 days following birth. Subsequent genetic tests confirmed a diagnosis of TSC. Rapamycin treatment resulted in regression of cardiac rhabdomyomas and controlled seizures...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29137068/carnitine-acylcarnitine-translocase-deficiency-with-c-199-10-t-g-and-novel-c-1a-g-mutation-two-case-reports-and-brief-literature-review
#15
REVIEW
Hui-Ming Yan, Hao Hu, Aisha Ahmed, Bing-Bing Feng, Jing Liu, Zheng-Jun Jia, Hua Wang
RATIONALE: Carnitine-acylcarnitine translocate deficiency (CACTD) is a rare and life-threatening, autosomal recessive disorder of fatty acid β-oxidation characterized by hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy, liver dysfunction, and muscle weakness; culminating in early death. To date, CACTD cases screened from the Chinese mainland population, especially patient with compound heterozygote with c.199-10T>G and a novel c.1A>G mutation in the SLC25A20 gene has never been described...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29124685/mitochondrial-trifunctional-protein-deficiency-severe-cardiomyopathy-and-cardiac-transplantation
#16
C Bursle, R Weintraub, C Ward, R Justo, J Cardinal, D Coman
We describe mitochondrial trifunctional protein deficiency (MTPD) in two male siblings who presented with severe cardiomyopathy in infancy. The first sibling presented in severe cardiac failure at 6 months of age and succumbed soon after. The second sibling came to attention after newborn screening identified a possible fatty acid oxidation defect. Dietary therapy and carnitine supplementation commenced in the neonatal period. Despite this the second child required cardiac transplantation at 3 years of age after a sudden and rapid decline in cardiac function...
November 10, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29078380/large-g-protein-%C3%AE-subunit-xl%C3%AE-s-limits-clathrin-mediated-endocytosis-and-regulates-tissue-iron-levels-in-vivo
#17
Qing He, Richard Bouley, Zun Liu, Marc N Wein, Yan Zhu, Jordan M Spatz, Chia-Yu Wang, Paola Divieti Pajevic, Antonius Plagge, Jodie L Babitt, Murat Bastepe
Alterations in the activity/levels of the extralarge G protein α-subunit (XLαs) are implicated in various human disorders, such as perinatal growth retardation. Encoded by GNAS , XLαs is partly identical to the α-subunit of the stimulatory G protein (Gsα), but the cellular actions of XLαs remain poorly defined. Following an initial proteomic screen, we identified sorting nexin-9 (SNX9) and dynamins, key components of clathrin-mediated endocytosis, as binding partners of XLαs. Overexpression of XLαs in HEK293 cells inhibited internalization of transferrin, a process that depends on clathrin-mediated endocytosis, while its ablation by CRISPR/Cas9 in an osteocyte-like cell line (Ocy454) enhanced it...
November 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29050752/maternal-substance-use-disorders-and-infant-outcomes-in-the-first-year-of-life-among-massachusetts-singletons-2003-2010
#18
Sunah S Hwang, Hafsatou Diop, Chia-Ling Liu, Qi Yu, Hermik Babakhanlou-Chase, Xiaohui Cui, Milton Kotelchuck
OBJECTIVE: To determine the association of maternal substance use disorders (SUDs) during pregnancy with adverse neonatal outcomes and infant hospital re-admissions, observational stays, and emergency department utilization in the first year of life. STUDY DESIGN: We analyzed 2 linked statewide datasets from 2002 to 2010: the Massachusetts Pregnancy to Early Life Longitudinal data system and the Massachusetts Bureau of Substance Abuse Services Management Information System...
December 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29049846/successful-management-of-transfusion-dependent-congenital-dyserythropoietic-anemia-type-1b-with-interferon-alfa-2a
#19
Mathias Rathe, Michael Boe Møller, Pernille Wied Greisen, Niels Fisker
The congenital dyserythropoietic anemias (CDAs) are a group of rare inherited blood disorders characterized by ineffective erythropoiesis as the principal cause of anemia. We present a child with CDA 1b-the rarest and least well-described type-due to a mutation in the C15orf41 gene. The patient presented with severe in utero and neonatal manifestations, typical peripheral limb anomalies as well as rarely reported cardiac manifestations, visual impairment, short stature, and hip dysplasia. Anemia was complicated by iron overload and pronounced extra medullary erythropoiesis leading to skull deformities...
March 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29022989/prophylactic-intravenous-calcium-therapy-for-exchange-blood-transfusion-in-the-newborn
#20
REVIEW
Tinuade A Ogunlesi, Foluso Ea Lesi, Olabisi Oduwole
BACKGROUND: Exchange blood transfusion (EBT) is a form of whole blood transfusion in which the total blood volume is replaced within a few hours. In perinatal and neonatal medicine, EBT is most often used in the management of severe anaemia or severe hyperbilirubinaemia in the first week of life. Hypocalcaemia, one of the common morbidities associated with EBT, is thought to arise from the chelating effects of the citrate commonly used as an anticoagulant in the donor's blood. This disorder manifests with muscular and nervous irritability and cardiac arrhythmias...
October 12, 2017: Cochrane Database of Systematic Reviews
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