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Congenital defects

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https://www.readbyqxmd.com/read/27906085/tissue-engineered-cardiac-patch-seeded-with-human-induced-pluripotent-stem-cell-derived-cardiomyocytes-promoted-the-regeneration-of-host-cardiomyocytes-in-a-rat-model
#1
Tadahisa Sugiura, Narutoshi Hibino, Christopher K Breuer, Toshiharu Shinoka
BACKGROUND: Thousands of babies are born with congenital heart defects that require surgical repair involving a prosthetic implant. Lack of growth in prosthetic grafts is especially detrimental in pediatric surgery. Cell seeded biodegradable tissue engineered grafts are a novel solution to this problem. The purpose of the present study is to evaluate the feasibility of seeding human induced pluripotent stem cell derived cardiomyocytes (hiPS-CMs) onto a biodegradable cardiac patch. METHODS: The hiPS-CMs were cultured on a biodegradable patch composed of a polyglycolic acid (PGA) and a 50:50 poly (l-lactic-co-ε-caprolactone) copolymer (PLCL) for 1 week...
December 1, 2016: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/27906021/video-assisted-thoracoscopic-surgery-for-adult-bochdalek-hernia-a-case-report
#2
Yu-Guang Shen, Na-Na Jiao, Wei Xiong, Quan Tang, Qing-Yong Cai, Gang Xu, Gui-You Liang
BACKGROUND: Bochdalek hernia is a type of congenital diaphragmatic hernia that typically presents in childhood, while this diseases is extremely rare in adults. CASE PRESENTATION: We review a case of a 63-year-old man with a left-sided Bochdalek hernia who was experiencing occasional pain at the left side of his chest for 8 months. The diagnosis of Bochdalek hernia was made by chest computed tomography. A part of the retroperitoneal adipose tissue was herniated into the left thoracic cavity through the diaphragmatic defect...
December 1, 2016: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/27904846/complete-congenital-heart-block-in-a-neonate-with-a-complex-congenital-heart-defect-in-africa
#3
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/27904843/cardiac-surgery-in-africa-a-thirty-five-year-experience-on-open-heart-surgery-in-cote-d-ivoire
#4
Koffi Herve Yangni-Angate, Christophe Meneas, Florent Diby, Manga Diomande, Anicet Adoubi, Yves Tanauh
BACKGROUND: Few centers for open heart surgery (OHS) are in Sub-Saharan Africa. Lack of OHS results is also noted. By reporting our African experience on OHS, the aim of this study was to fill the gap. METHODS: It is a retrospective study on 2,612 patients who were subject to an OHS between 1978 and 2013. Data were collected from demographical, clinical, investigative studies, surgical and outcomes parameters. RESULTS: There were 1,475 cases of rheumatic heart diseases (RHD), 126 endomyocardial fibrosis (EMF), 741 congenital heart diseases (CHDs) and 270 various affections...
October 2016: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/27904817/transitional-vertebra-and-spina-bifida-occulta-related-with-chronic-low-back-pain-in-a-young-patient
#5
Maryam Kundi, Maham Habib, Sumbal Babar, Asif K Kundi, Salman Assad, Amjad Sheikh
Bertolotti's syndrome (BS) must be considered as a differential diagnosis in a young patient presenting with low back pain (LBP). We present a case of a 26-year-old male complaining of mild chronic LBP for six years, radiating to his left thigh for the past six months. He has been taking non-steroidal anti-inflammatory drugs (NSAIDs) with skeletal muscle relaxants for pain relief. The X-ray and computed tomography (CT) imagings showed congenital enlargement of the left transverse process of the fifth lumbar (L5) vertebra forming pseudo-articulation with the sacrum and unilateral pars interarticularis defect at the L4 level on the left side, respectively...
October 19, 2016: Curēus
https://www.readbyqxmd.com/read/27904570/existence-of-mutations-in-the-homeodomain-encoding-region-of-nkx2-5-gene-in-iranian-patients-with-tetralogy-of-fallot
#6
Majid Kheirollahi, Fereshteh Khosravi, Saeideh Ashouri, Alireza Ahmadi
BACKGROUND: Tetralogy of Fallot (TOF), the most common cyanotic heart defect and one of the most common congenital heart diseases, occurs mostly sporadically and nonsyndromically. The underlying molecular genetic mechanism is not known. Therefore, the existence of mutations in the homeodomain-encoding region of NKX2.5 gene in Iranian patients with tetralogy of Fallot is evaluated. MATERIALS AND METHODS: In the present study, we analyzed the peripheral blood samples of27 patients in order to find any mutation in the 180 bp homeodomain-encoding region of NKX2...
2016: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/27899950/bone-anchored-titanium-implants-in-patients-with-auricular-defects-three-years-and-27-patients-experience
#7
Emilio Mevio, Luca Facca, Stefano Schettini, Mauro Mullace
Different surgical solutions have been proposed for reconstruction of the auricle following loss of the pinna through traumatic injury or neoplastic disease or in patients with congenital defects. Surgical treatment may involve the insertion of an autogenous rib cartilage framework or the use of a porous polymer material inserted into an expanded postauricular flap. Reconstruction with rib cartilage has yielded good results but requires more than one surgical step, and adverse events can occur both at the donor and at the acceptor site; cases of prosthesis rejection have also been described following application of the polymeric prosthesis...
2016: International Journal of Otolaryngology
https://www.readbyqxmd.com/read/27899864/right-ventricle-mimics-right-atrium-at-first-glance-a-rare-case-of-congenital-right-sided-partial-pericardial-defect
#8
Meitzu Wang, Tien-Yu Chang, Wei-Hsian Yin, Yung-Nien Yang
Among heart irregularities, congenital pericardial defect is an unusual anomaly, and is typically left dominant. However, cases of right pericardial defect with heart herniation are extremely rare. This is a case of congenital right pericardial defect with herniation of the right ventricle free wall and right ventricular outflow tract. The patient is asymptomatic and refused further intervention but even indolent discomfort underscores the risks of iatrogenic injuries to the heart and sudden death caused by mechanical pathogenesis due to changes in anatomical positions of the cardiac structures...
November 2016: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/27899861/echocardiographic-follow-up-of-patent-foramen-ovale-and-the-factors-affecting-spontaneous-closure
#9
Ali Yildirim, Alperen Aydin, Tevfik Demir, Fatma Aydin, Birsen Ucar, Zubeyir Kilic
BACKGROUND: The aim of the present study was to evaluate the echocardiographic follow-up of patent foramen ovale, which is considered a potential etiological factor in various diseases, and to determine the factors affecting spontaneous closure. METHODS: Between January 2000 and June 2012, records of 918 patients with patent foramen ovale were retrospectively reviewed. Patency of less than 3 mm around the fossa ovalis is called patent foramen ovale. Patients with cyanotic congenital heart diseases, severe heart valve disorders and severe hemodynamic left to right shunts were excluded from the study...
November 2016: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/27899284/defective-lymphatic-valve-development-and-chylothorax-in-mice-with-a-lymphatic-specific-deletion-of-connexin43
#10
Stephanie J Munger, Michael J Davis, Alexander M Simon
Lymphatic valves (LVs) are cusped luminal structures that permit the movement of lymph in only one direction and are therefore critical for proper lymphatic vessel function. Congenital valve aplasia or agenesis can, in some cases, be a direct cause of lymphatic disease. Knowledge about the molecular mechanisms operating during the development and maintenance of LVs may thus aid in the establishment of novel therapeutic approaches to treat lymphatic disorders. In this study, we examined the role of Connexin43 (Cx43), a gap junction protein expressed in lymphatic endothelial cells (LECs), during valve development...
November 26, 2016: Developmental Biology
https://www.readbyqxmd.com/read/27895974/genetic-screening-in-patients-with-craniofacial-malformations
#11
REVIEW
Amanda J Yoon, Binh N Pham, Katrina M Dipple
Craniofacial malformations include a variety of anomalies, including cleft lip with or without cleft palate, craniosynostosis, microtia, and hemifacial microsomia. All of these anomalies can be either isolated or part of a defined genetic syndrome. A clinical geneticist or genetic counselor should be a member of the craniofacial team to help determine which patients have isolated anomalies and which are likely to have a syndrome. They would then arrange for the appropriate genetic testing to confirm the diagnosis of the specific syndrome...
December 2016: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27895340/is-grown-up-congenital-heart-guch-disease-different-in-a-developing-country
#12
Syed Shahabuddin, Shiraz Hashmi, Syed Ezze Rakhshan, Jamal Kabeer Khan, Shahid Ahmed Sami, Muneer Amanullah
In the current era grown up congenital heart disease (GUCH) patients undergoing surgical interventions are increasing. Most of the interventions in the developed countries are either complex or redo-operations in patients who had previously undergone repair, palliation or correction. However, in the developing countries most of the interventions are primary and corrective. This descriptive retrospective study comprised GUCH patients who underwent surgical intervention for congenital heart disease (CHD) at Aga Khan University Hospital, Karachi, from January 2006 to December 2015...
October 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/27894762/bilateral-congenital-diaphragmatic-hernia-prognostic-evaluation-of-a-large-international-cohort
#13
Sanne Mbi Botden, Kim Heiwegen, Iris Alm van Rooij, Horst Scharbatke, Pamela A Lally, Arno van Heijst, Ivo de Blaauw
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a lethal birth defect, which occurs in 1:2000-3000 live births. Bilateral CDH is a rare form (1%), with a high mortality. This study presents the outcomes of the largest cohort of bilateral CDH patients. METHODS: The records of patients with bilateral CDH from the Congenital Diaphragmatic Hernia Registry born between 1995 and 2015 were retrospectively analyzed to identify parameters associated with mortality. RESULTS: Eighty patients with a bilateral CDH were identified...
November 17, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27894574/an-overview-of-pre-expanded-perforator-flaps-part-2-clinical-applications
#14
REVIEW
Chunmei Wang, Jing Zhang, Hiko Hyakusoku, Ping Song, Lee L Q Pu
Pre-expanded perforator flaps have several advantages over their traditional counterparts owing to the thin, more pliable nature, larger size, and minimum morbidity of the donor site. Recently, plastic surgeons have begun to use pre-expanded perforator flaps to reconstruct defects of almost the entire body, including the cervicofacial region, axilla, trunk, and extremities resulting from scar, congenital melanocytic nevi, hemangiomas, and neurofibromas. Such a versatile flap is especially appropriate for face and neck resurfacing, which requires more optimal functional and cosmetic outcomes...
January 2017: Clinics in Plastic Surgery
https://www.readbyqxmd.com/read/27894567/proportion-of-selected-congenital-heart-defects-attributable-to-recognized-risk-factors
#15
Regina M Simeone, Sarah C Tinker, Suzanne M Gilboa, A J Agopian, Matthew E Oster, Owen J Devine, Margaret A Honein
PURPOSE: To assess the contribution of multiple risk factors for two congenital heart defects-hypoplastic left heart syndrome (HLHS) and tetralogy of Fallot (TOF). METHODS: We used data from the National Birth Defects Prevention Study (1997-2011) to estimate average adjusted population attributable fractions for several recognized risk factors, including maternal prepregnancy overweight-obesity, pregestational diabetes, age, and infant sex. RESULTS: There were 594 cases of isolated simple HLHS, 971 cases of isolated simple TOF, and 11,829 controls in the analysis...
December 2016: Annals of Epidemiology
https://www.readbyqxmd.com/read/27893194/incidence-morphology-and-progression-of-bicuspid-aortic-valve-in-pediatric-and-young-adult-subjects-with-coexisting-congenital-heart-defects
#16
Talha Niaz, Joseph T Poterucha, Jonathan N Johnson, Cecilia Craviari, Thomas Nienaber, Jared Palfreeman, Frank Cetta, Donald J Hagler
BACKGROUND: Bicuspid aortic valve (BAV) occurs both as an isolated cardiac lesion and in association with congenital heart defects (CHD). Their aim was to identify the incidence and morphology of BAV in patients with coexisting CHD and compare their disease progression to patients with isolated BAV. METHODS: The Mayo Clinic echocardiography database was retrospectively analyzed to identify pediatric and young adult patients (≤22 years) who were diagnosed with BAV from 1990 to 2015...
November 28, 2016: Congenital Heart Disease
https://www.readbyqxmd.com/read/27892791/cardiovascular-profile-score-as-a-predictor-of-acute-intrapartum-non-reassuring-fetal-status-in-infants-with-congenital-heart-defects
#17
Takekazu Miyoshi, Shinji Katsuragi, Reiko Neki, Ken-Ichi Kurosaki, Isao Shiraishi, Michikazu Nakai, Kunihiro Nishimura, Jun Yoshimatsu, Tomoaki Ikeda
OBJECTIVES: To investigate the predictive factors of urgent cesarean delivery (CD) due to acute intrapartum non-reassuring fetal status (NRFS) in infants with congenital heart defects (CHDs). STUDY DESIGN: This was a retrospective review of 199 singletons prenatally diagnosed with a CHD and for whom vaginal delivery was attempted in our institution between 2007 and 2014. A cardiovascular profile (CVP) score was used to assess fetal heart failure. RESULTS: The number of urgent CDs due to NRFS was 37 (18...
November 28, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27891785/editorial-brain-malformation-surveillance-in-the-zika-era
#18
EDITORIAL
Edwin Trevathan
The current surveillance systems for congenital microcephaly are necessary to monitor the impact of Zika virus (ZIKV) on the developing human brain, as well as the ZIKV prevention efforts. However, these congenital microcephaly surveillance systems are insufficient. Abnormalities of neuronal differentiation, development and migration may occur among infants with normal head circumference who have intrauterine exposure to ZIKV. Therefore, surveillance for congenital microcephaly does not ascertain many of the infants seriously impacted by congenital ZIKV infection...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27891784/characterizing-facial-features-in-individuals-with-craniofacial-microsomia-a-systematic-approach-for-clinical-research
#19
Carrie L Heike, Erin Wallace, Matthew L Speltz, Babette Siebold, Martha M Werler, Anne V Hing, Craig B Birgfeld, Brent R Collett, Brian G Leroux, Daniela V Luquetti
BACKGROUND: Craniofacial microsomia (CFM) is a congenital condition with wide phenotypic variability, including hypoplasia of the mandible and external ear. We assembled a cohort of children with facial features within the CFM spectrum and children without known craniofacial anomalies. We sought to develop a standardized approach to assess and describe the facial characteristics of the study cohort, using multiple sources of information gathered over the course of this longitudinal study and to create case subgroups with shared phenotypic features...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27891783/population-based-microcephaly-surveillance-in-the-united-states-2009-to-2013-an-analysis-of-potential-sources-of-variation
#20
Janet D Cragan, Jennifer L Isenburg, Samantha E Parker, C J Alverson, Robert E Meyer, Erin B Stallings, Russell S Kirby, Philip J Lupo, Jennifer S Liu, Amanda Seagroves, Mary K Ethen, Sook Ja Cho, MaryAnn Evans, Rebecca F Liberman, Jane Fornoff, Marilyn L Browne, Rachel E Rutkowski, Amy E Nance, Marlene Anderka, Deborah J Fox, Amy Steele, Glenn Copeland, Paul A Romitti, Cara T Mai
BACKGROUND: Congenital microcephaly has been linked to maternal Zika virus infection. However, ascertaining infants diagnosed with microcephaly can be challenging. METHODS: Thirty birth defects surveillance programs provided data on infants diagnosed with microcephaly born 2009 to 2013. The pooled prevalence of microcephaly per 10,000 live births was estimated overall and by maternal/infant characteristics. Variation in prevalence was examined across case finding methods...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
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