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Heart failure premature infant

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https://www.readbyqxmd.com/read/28398665/both-a-frameshift-and-a-missense-mutation-of-the-stra6-gene-observed-in-an-infant-with-the-matthew-wood-syndrome
#1
Samantha Sadowski, Nicolas Chassaing, Zuzanna Gaj, Ewa Czichos, Jan Wilczynski, Dorota Nowakowska
BACKGROUND: The Matthew-Wood syndrome is associated with mutations of the STRA6 gene. It combines a pulmonary agenesis/hypoplasia; microphthalmia/anophthalmia; congenital cardiac, digestive, and urogenital malformations; and diaphragmatic defects. CASE: A 23-year-old nulliparous woman was referred to our center after a fetal ultrasound examination at 26 weeks of pregnancy revealed an abnormal head shape, a heart malformation, multiple cysts in both kidneys, and dilated ureters...
March 1, 2017: Birth defects research
https://www.readbyqxmd.com/read/28106024/-a-rare-cause-of-2-1-atrioventricular-block-and-congestive-heart-failure-in-preterm-infants-hypocalcemia
#2
Emine Azak, Hatice Tatar Aksoy, Handan Ünsal, İbrahim İlker Çetin
Atrioventricular (AV) block in the neonatal period is a rare disorder. It is frequently associated with underlying structural congenital heart disease and maternal lupus. Presently described is premature baby who developed 2:1 AV block and congestive heart failure due to hypocalcemia. Dramatic clinical improvement was observed following treatment of intravenous 10% calcium gluconate. Therefore, it is suggested that serum calcium level of newborns with AV block and congestive heart failure be measured.
January 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28069640/sequence-variation-in-ppp1r13l-results-in-a-novel-form-of-cardio-cutaneous-syndrome
#3
Tzipora C Falik-Zaccai, Yiftah Barsheshet, Hanna Mandel, Meital Segev, Avraham Lorber, Shachaf Gelberg, Limor Kalfon, Shani Ben Haroush, Adel Shalata, Liat Gelernter-Yaniv, Sarah Chaim, Dorith Raviv Shay, Morad Khayat, Michal Werbner, Inbar Levi, Yishay Shoval, Galit Tal, Stavit Shalev, Eli Reuveni, Emily Avitan-Hersh, Eugene Vlodavsky, Liat Appl-Sarid, Dorit Goldsher, Reuven Bergman, Zvi Segal, Ora Bitterman-Deutsch, Orly Avni
Dilated cardiomyopathy (DCM) is a life-threatening disorder whose genetic basis is heterogeneous and mostly unknown. Five Arab Christian infants, aged 4-30 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3. A homozygous sequence variation creating a premature stop codon at PPP1R13L encoding the iASPP protein was identified in three infants and in the mother of the other two. Patients' fibroblasts and PPP1R13L-knocked down human fibroblasts presented higher expression levels of pro-inflammatory cytokine genes in response to lipopolysaccharide, as well as Ppp1r13l-knocked down murine cardiomyocytes and hearts of Ppp1r13l-deficient mice...
March 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28007064/the-society-of-thoracic-surgeons-congenital-heart-surgery-database-public-reporting-initiative
#4
REVIEW
Jeffrey P Jacobs
Three basic principles provide the rationale for the Society of Thoracic Surgeons (STS) Congenital Heart Surgery Database (CHSD) public reporting initiative: (1) Variation in congenital and pediatric cardiac surgical outcomes exist. (2) Patients and their families have the right to know the outcomes of the treatments that they will receive. (3). It is our professional responsibility to share this information with them in a format they can understand. The STS CHSD public reporting initiative facilitates the voluntary transparent public reporting of congenital and pediatric cardiac surgical outcomes using the STS CHSD Mortality Risk Model...
January 2017: Seminars in Thoracic and Cardiovascular Surgery. Pediatric Cardiac Surgery Annual
https://www.readbyqxmd.com/read/27805349/infantile-preductal-coarctation-of-aorta-presenting-as-cerebellar-infarct-a-rare-presentation
#5
A Sivaraman, Maniram Kumhar, Utsav Kimar Sahu, Manoj Kumar Mali
Coarctation of aorta is a common congenital heart defect. The diagnosis may be missed unless a highindex of suspicion is maintained, and is often delayed until the patient develops congestive heart failure (CHF), (common in infants) or hypertension (common in older children). It seldom goes undiagnosed till adulthood and frequently leads to complications as a result of long-standing high blood pressure. Intracranial haemorrhage, premature coronary artery disease, aortic aneurysms and rupture have all been reported...
November 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27745924/best-practice-critical-cardiac-care-in-the-neonatal-unit
#6
REVIEW
Michael L Rigby
Major congenital or acquired heart disease in neonates presents with cyanosis, hypoxia, acute circulatory failure or cardiogenic shock. Antenatal diagnosis is made in up to 50% but heart disease is unanticipated in the remainder. The presence of significant heart disease in premature infants is also frequently not suspected at first; in general, whatever the underling cardiac anomaly, the clinical condition is worse, deteriorates more quickly and carries a poorer prognosis in premature and low birth weight infants...
November 2016: Early Human Development
https://www.readbyqxmd.com/read/27733999/extracorporeal-membrane-oxygenation-in-a-1-360-g-premature-neonate-after-repairing-total-anomalous-pulmonary-venous-return
#7
Youn Ju Rhee, Sung Joon Han, Yoo Young Chong, Min-Woong Kang, Shin Kwang Kang, Jae-Hyeon Yu
With advancements in complex repairs in neonates with complicated congenital heart diseases, extracorporeal membrane oxygenation (ECMO) has been increasingly used as cardiac support. ECMO has also been increasingly used for low birth weight (LBW) or very low birth weight (VLBW) neonates. However, since prematurity and LBW are risk factors for ECMO, the appropriate indications for neonates with LBW, especially VLBW, are under dispute. We report a case of ECMO performed in a 1,360-g premature infant with VLBW due to cardiopulmonary bypass weaning failure after repairing infracardiac total anomalous pulmonary venous return...
October 2016: Korean Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/27328555/a-rare-association-of-non-compaction-of-the-ventricular-myocardium-and-non-immune-hydrops-fetalis
#8
Raja Nandyal, Ganga Moorthy
Hydrops fetalis is a rare manifestation of severe congestive heart failure in a fetus, resulting in pathological fluid accumulation in fetal soft tissues and/or serous cavities. Non-compaction of the ventricular myocardium, frequently referred to as the left ventricular non-compaction (LVNC), is a very rare congenital cardiomyopathy. For LVNC, echocardiography is the diagnostic modality of choice. Various diagnostic criteria exist based on either echocardiography or MRI. Currently, nonimmune hydrops fetalis (NIHF) comprise almost 90% of all hydrops fetalis cases...
April 2016: Journal of the Oklahoma State Medical Association
https://www.readbyqxmd.com/read/27322872/left-thoracic-sympathectomy-in-a-premature-infant-with-long-qt-syndrome-and-heart-failure
#9
Sushitha Surendran, Thittamaranahalli K S Kumar, Christopher J Knott-Craig
Left thoracic sympathectomy has been shown to be an effective treatment for adults with long QT syndrome who are refractory to medical therapy. We report the successful use of left thoracic sympathectomy for the management of a 10-week-old premature baby with long QT syndrome and heart failure from a large ventricular septal defect and patent ductus arteriosus.
January 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/27258032/a-previously-healthy-premature-infant-treated-with-thrombolytic-therapy-for-life-threatening-pulmonary-artery-thrombosis
#10
Dilek Ulubas Isik, Istemi H Celik, Osman Yilmaz, Ahmet Y Bas, Nihal Demirel
Pulmonary artery thrombosis is rarely reported in preterm neonates. Although treatment of neonatal thrombosis remains controversial, thrombolytic agents must be considered when the thrombosis is life threatening. We herein present a case of a preterm newborn with pulmonary artery thrombosis accompanied by acute-onset respiratory failure and cyanotic congenital heart disease. The thrombosis was successfully treated using tissue plasminogen activator. In conclusion, the thrombolytic therapy should be considered in treatment of patients in whom the thrombosis completely occludes the pulmonary arteries...
November 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/26929880/junctional-bradycardia-as-early-sign-of-digoxin-toxicity-in-a-premature-infant-with-congestive-heart-failure-due-to-a-left-to-right-shunt
#11
Soham Dasgupta, Ashraf M Aly, Sunil K Jain
Introduction Congestive heart failure due to left to right cardiac shunt is usually managed medically with diuretics, angiotensin converting enzyme inhibitors, and, in some cases, with the addition of digoxin. Case We report a 31-week gestation premature male infant who did not respond to such treatment and developed hyperaldosteronism and severe hypokalemia secondary to activation of the renin angiotensin aldosterone system. The hypokalemia was not responsive to intravenous KCL supplementation and induced digoxin toxicity despite a relatively normal digoxin level...
March 2016: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/26885434/high-output-cardiac-failure-resolving-after-repair-of-av-fistula-in-a-six-month-old
#12
Uygar Teomete, Rubee Anne Gugol, Holly Neville, Ozgur Dandin, Ming-Lon Young
Background. Acquired AVF in pediatrics are commonly caused by iatrogenic means, including arterial or venous punctures. These fistulae can cause great hemodynamic stress on the heart as soon as they are created. Case. A six-month-old 25-week gestation infant was referred for respiratory distress. Initial exam revealed tachypnea, tachycardia, and hypertension. There was a bruit noted on her left arm. An ultrasound showed an arteriovenous fistula. Its location, however, precluded intervention because of the high risk for limb-loss...
2016: Case Reports in Vascular Medicine
https://www.readbyqxmd.com/read/26809174/successful-treatment-of-arrhythmia-induced-cardiomyopathy-in-an-infant-with-tuberous-sclerosis-complex
#13
Noriko Motoki, Yuji Inaba, Satoshi Matsuzaki, Yohei Akazawa, Takafumi Nishimura, Tetsuhiro Fukuyama, Kenichi Koike
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal-dominant tumor suppressor gene syndrome that is characterized by the development of distinctive benign tumors and malformations in multiple organ systems (N Eng J Med 355:1345-1356, 2006). Cardiac rhabdomyomas are intracavitary or intramural tumors observed in 50-70 % of infants with TSC but only cause serious clinical problems in a very small fraction of these patients (N Eng J Med 355:1345-1356, 2006; Pediatrics 118:1146-1151, 2006; Eur J Pediatr 153:155-7, 1994); most individuals have no clinical symptoms and their tumors spontaneously regress...
January 25, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/26708380/preoperative-determinants-of-outcomes-of-infant-heart-surgery-in-a-limited-resource-setting
#14
N Srinath Reddy, Mahesh Kappanayil, Rakhi Balachandran, Kathy J Jenkins, Abish Sudhakar, G S Sunil, R Benedict Raj, R Krishna Kumar
We studied the effect of preoperative determinants on early outcomes of 1028 consecutive infant heart operations in a limited-resource setting. Comprehensive data on pediatric heart surgery (January 2010-December 2012) were collected prospectively. Outcome measures included in-hospital mortality, prolonged ventilation (>48 hours), and bloodstream infection (BSI) after surgery. Preoperative variables that showed significant individual association with outcome measures were entered into a logistic regression model...
2015: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/26684389/planned-caesarean-section-for-women-with-a-twin-pregnancy
#15
REVIEW
G Justus Hofmeyr, Jon F Barrett, Caroline A Crowther
BACKGROUND: Twin pregnancies are associated with increased perinatal mortality, mainly related to prematurity, but complications during birth may contribute to perinatal loss or morbidity. The option of planned caesarean section to avoid such complications must therefore be considered. On the other hand, randomised trials of other clinical interventions in the birth process to avoid problems related to labour and birth (planned caesarean section for breech, and continuous electronic fetal heart rate monitoring), have shown an unexpected discordance between short-term perinatal morbidity and long-term neurological outcome...
2015: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/26591706/high-prevalence-of-tuberculosis-diagnosed-during-autopsy-examination-at-muhimbili-national-hospital-in-dar-es-salaam-tanzania
#16
Andrew M Kilale, Godfather D Kimaro, Amos M Kahwa, Mabuba Chilagwile, Bernard J Ngowi, William Muller, Hassan Chande, Godfrey S Mfinanga, Sven G Hinderaker
The primary aims of tuberculosis (TB) control programmes is early diagnosis and prompt treatment of infectious cases to limit transmission. Failure to diagnose and adequately treat TB could lead to premature death and unrecognized transmission of Mycobacterium tuberculosis. The proportion of missed TB cases has not been reported in Tanzania. The objective of this study was to quantify the number of cases of TB identified by autopsy. Deceased morbid bodies from Muhimbili National Hospital were involved. Retrieval of admission, diagnostic and other important records used to manage the patient after admission was done...
July 2013: Tanzania Journal of Health Research
https://www.readbyqxmd.com/read/26529397/case-report-congenital-erythroleukemia-in-a-premature-infant-with-dysmorphic-features
#17
Heidi Helin, Jon van der Walt, Muriel Holder, Simi George
We present a case of pure erythroleukemia, diagnosed at autopsy, in a dysmorphic premature infant who died of multiorgan failure within 24 hours of birth. Dysmorphic features included facial and limb abnormalities with long philtrum, microagnathia, downturned mouth, short neck as well as abnormal and missing nails, missing distal phalanx from the second toe, and overlapping toes. Internal findings included gross hepatomegaly and patchy hemorrhages in the liver, splenomegaly, and cardiomegaly; and subdural, intracerebral, and intraventricular hemorrhages...
July 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/26471825/more-than-just-the-heart-transition-and-psychosocial-issues-in-adult-congenital-heart-disease
#18
REVIEW
Adrienne H Kovacs, Elisabeth M Utens
Most infants born with congenital heart disease (CHD) are now expected to reach adulthood. However, adults with CHD of moderate or great complexity remain at elevated risk of heart failure, arrhythmias, additional surgeries and interventional procedures, and premature mortality. This creates a need for lifelong specialized cardiac care and leads to 2 sets of potential challenges: (1) the transition from pediatric to adult care and (2) the psychosocial implications of coping with a chronic and often life-shortening medical condition...
November 2015: Cardiology Clinics
https://www.readbyqxmd.com/read/26469242/rapid-development-of-corneal-hydrops-in-a-septic-infant-who-received-diode-laser-for-aggressive-posterior-retinopathy-of-prematurity
#19
Emrah Utku Kabatas, Pinar Altiaylik Ozer, Bengi Ece Kurtul, Serdar Beken, Aysegul Zenciroglu, Nurullah Okumus
A premature baby who was hospitalized with the diagnosis of sepsis was treated with diode laser photocoagulation for aggressive posterior retinopathy of prematurity. Diffuse corneal ectasia and corneal hydrops developed in the right eye, and hyphema and corneal hydrops developed on the left eye on postoperative day 12. The patient died because of cardiovascular collapse and hemodynamic instability. Sepsis may be a contributory factor to the clinical susceptibility of the patient for the postoperative corneal effects of the laser...
October 2015: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/26265915/a-novel-mutation-in-the-cyp11b1-gene-causes-steroid-11%C3%AE-hydroxylase-deficient-congenital-adrenal-hyperplasia-with-reversible-cardiomyopathy
#20
Mohammad A Alqahtani, Ayed A Shati, Minjing Zou, Ali M Alsuheel, Abdullah A Alhayani, Saleh M Al-Qahtani, Hessa M Gilban, Brain F Meyer, Yufei Shi
Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, precocious puberty with acne, enlarged penis, and hyperpigmentation of scrotum of genetically male infants. In the present study, we reported 3 male cases from a Saudi family who presented with penile enlargement, progressive darkness of skin, hypertension, and cardiomyopathy...
2015: International Journal of Endocrinology
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