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congenital anomaly

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https://www.readbyqxmd.com/read/28922239/cleft-lip-and-palate-an-experience-of-a-developing-center-in-egypt
#1
Tarek A Abulezz
BACKGROUND: Cleft lip and palate is the most common congenital anomaly in the head and neck region. These clefts are not just a distortion of the normal appearance, but they may impose a major influence on the whole patient's life, both functionally and psychologically. Clefts affect feeding, teething, hearing, speech, and social communication. The incidence of cleft lip and palate is variable in different countries and different communities. The surgical correction of cleft lip and palate went through many evolutions, but still there is no single universal protocol of repair; however, many European countries have adopted national protocols and have established cleft centers for the management and follow up of affected population...
September 15, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28922055/nance-horan-syndrome-in-females-due-to-a-balanced-x-1-translocation-that-disrupts-the-nhs-gene-familial-case-report-and-review-of-the-literature
#2
Laura Gómez-Laguna, Alejandro Martínez-Herrera, Alejandra Del Pilar Reyes-de la Rosa, Constanza García-Delgado, Karem Nieto-Martínez, Fernando Fernández-Ramírez, Tania Yanet Valderrama-Atayupanqui, Ariadna Berenice Morales-Jiménez, Judith Villa-Morales, Susana Kofman, Alicia Cervantes, Verónica Fabiola Morán-Barroso
The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally present less severe features, and up to 30% of the affected males have intellectual disability. We describe two patients, mother and daughter, manifesting Nance-Horan syndrome. The cytogenetic and molecular analyses demonstrated a 46,X,t(X;1)(p22.13;q22) karyotype in each of them...
September 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28920017/esophageal-atresia-with-tracheo-esophageal-fistula-presenting-beyond-7-days
#3
Nilesh Nagdeve, Mohini Sukhdeve, Tushar Thakre, Suresh Morey
AIM: To describe our experience of neonates with esophageal atresia with tracheo-esophageal fistula (EA with TEF) who presented after a week. DESIGN: Retrospective study of the patients of EA with TEF who presented after a week. STUDY SETTING: Department of Pediatric Surgery, Government Medical College Nagpur. Study Duration: Eight years. MATERIALS AND METHODS: Demographic information, hematological, biochemical and radiological data were obtained from the patients' medical records...
July 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28919627/ebstein-s-anomaly-associated-with-atrial-septal-defect-and-wolff-parkinson-white-wpw-syndrome
#4
M N Hasan, K Ahmed, S M Ahmed, M M Rahman
Ebstein's anomaly is a rare congenital heart disorder, accounting for <1% of all cases of congenital heart disease. It is a congenital malformation of the heart that is characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. We report the case of a 25 years old female with Ebstein's anomaly which was associated with Ostium Secundum type of atrial septal defect and WPW syndrome, who presented with dyspnea, palpitations, cyanosis, clubbing and cardiomegaly...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28919624/frequency-distribution-of-congenital-anomaly-and-associated-maternal-risk-factors
#5
K Fatema, T Das, A Mannan, S M Zaman
This study was done to find out the maternal risk factors associated with congenital anomaly. This cross-sectional observational study was carried out in the Department of Obstetrics and Gynaecology, Bangabandhu Sheikh Mujib Medical University (BSMMU) Hospital, Dhaka, Bangladesh from January 2011 to December 2011. During this study period 78 patients had pregnancy with congenital anomaly and delivered in the Department of Obstetrics and Gynaecology. Women with ultrasound report of congenitally abnormal fetus irrespective of gestational age were included...
July 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28918060/outcomes-of-ahmed-glaucoma-valve-revision-in-pediatric-glaucoma
#6
Ahmed Mansour Al-Omairi, Aliah H Al Ameri, Sami Al-Shahwan, Arif O Khan, Ibrahim Al-Jadaan, Ahmed Mousa, Deepak P Edward
PURPOSE: Encapsulation of the Ahmed glaucoma valve (AGV) plate is a common cause for postoperative elevation of intraocular pressure, especially in children. Many reports have described the outcomes of AGV revision in adults. However, the outcomes of AGV revision in children are poorly documented. The aim of this study was to determine the outcomes of AGV revision in children. DESIGN: Retrospective cross sectional study METHODS: A retrospective chart review of patients less than 15 years of age who underwent AGV revision with a minimum postoperative follow-up of six months was conducted...
September 13, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28917833/values-based-shared-decision-making-in-the-antenatal-period
#7
REVIEW
Stephanie K Kukora, Renee D Boss
Despite advances in life-saving technology for critically ill neonates, challenges continue to arise for infants delivered with extreme prematurity, congenital anomalies, and genetic conditions that exceed the limits of currently available interventions. In these situations, parents are forced to make cognitively and emotionally difficult decisions, in discussion with a neonatologist, regarding how aggressively to provide supportive measures at the time of delivery and at what point burdens of therapy outweigh benefits...
September 13, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28917536/birth-outcomes-following-immunization-of-pregnant-women-with-pandemic-h1n1-influenza-vaccine-2009-2010
#8
Abigail Eaton, Ned Lewis, Bruce Fireman, John Hansen, Roger Baxter, Julianne Gee, Nicola P Klein
BACKGROUND: Following the H1N1 influenza pandemic in 2009, pregnant women were recommended to receive both seasonal (TIV) and H1N1 influenza vaccines. This study presents incidence of adverse birth and pregnancy outcomes among a population of pregnant women immunized with TIV and H1N1 vaccines at Kaiser Permanente Northern California during 2009-2010. METHODS: We telephone surveyed pregnant Kaiser Permanente Northern California members to assess non-medically-attended reactions following H1N1, TIV or both vaccines during 2009-2010 (n=5365) in a separate study...
September 13, 2017: Vaccine
https://www.readbyqxmd.com/read/28917495/complications-associated-with-implantable-cardioverter-defibrillators-in-adults-with-congenital-heart-disease-or-left-ventricular-noncompaction-cardiomyopathy-from-the-ncdr-%C3%A2-implantable-cardioverter-defibrillator-registry
#9
Marye J Gleva, Yongfei Wang, Jeptha P Curtis, Charles I Berul, Charles B Huddleston, Jeanne E Poole
Patients with childhood heart disease are living longer and entering adulthood, and may undergo implantable cardioverter-defibrillator (ICD) implantation to reduce the risk of sudden death. We evaluated the characteristics of adult patients with congenital heart disease or left ventricular noncompaction cardiomyopathy (LVNC) in the National Cardiovascular Disease Registry ICD Registry and determined ICD-related in-hospital complications. Patients with LVNC or transposition of the great arteries, tetralogy of Fallot, Ebstein's anomaly, atrial septal defect, ventricular septal defect, or common ventricle were identified in the registry...
August 8, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28917066/effectiveness-of-the-critical-congenital-heart-disease-screening-program-for-early-diagnosis-of-cardiac-abnormalities-in-newborn-infants
#10
Abdulmajid M Almawazini, Hamdi K Hanafi, Hasan A Madkhali, Noura B Majrashi
To evaluate the effectiveness of critical congenital heart disease (CCHD) screening program for early diagnosis of cardiac anomalies in newborn infants.  Methods: This is a hospital-based prospective cross-sectional study conducted in the Pediatric and Neonatology Department, King Fahad Hospital at  Albaha, Saudi Arabia, between February 2016 and February 2017. Results: We screened 2961 (95.4%) of 3103 patients in a nursery unit; 142 (4.6%) patients were not screened. The test was positive in 114 (3.9%) patients and negative in 2847 (96...
October 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/28915235/transamniotic-stem-cell-therapy-trascet-a-novel-strategy-for-the-prenatal-management-of-congenital-anomalies
#11
REVIEW
Dario O Fauza
Transamniotic Stem Cell Therapy, or TRASCET, is an emerging therapeutic concept for the management of congenital anomalies based on the augmentation of the biological role of select populations of stem cells that already occur in the amniotic fluid, for targeted therapeutic benefit. Amniotic fluid-derived mesenchymal stem cells (afMSCs) play a central role in the enhanced ability of the fetus to repair tissue damage. This germane recent finding constitutes the biological foundation for the use of afMSCs in TRASCET...
September 15, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28913132/the-incidence-risk-factors-and-mortality-of-preterm-neonates-a-prospective-study-from-jordan-2012-2013
#12
Nadin M Abdel Razeq, Yousef S Khader, Anwar M Batieha
OBJECTIVE: To explore the incidence of preterm delivery, maternal risk factors for having a preterm neonate, and preterm neonates' mortality in Jordan. MATERIALS AND METHODS: A cross-sectional population-based design was applied. Socio-demographic, perinatal, delivery risk factors, and survival information were gathered in pre- and post-hospital discharge interviews with 21075 women who gave birth to live neonates at ≥20 weeks of gestation in 18 hospitals in Jordan...
March 2017: Turk J Obstet Gynecol
https://www.readbyqxmd.com/read/28913123/true-management-of-obstructed-hemi-vagina-and-ipsilateral-renal-anomaly-syndrome
#13
Betül Yakıştıran, Yavuz Emre Şükür, Batuhan Turgay, Cem Atabekoğlu
Herlyn-Werner-Wunderlich syndrome is an unusual congenital anomaly of the female genitourinary system, which is described as uterine didelphys with Obstructed Hemi-vagina and Ipsilateral Renal Anomaly (OHIRA), also known as OHVIRA syndrome. Typical symptoms are pelvic pain, tenderness, pelvic mass due to blood collection in the obstructed hemi-vagina and uterus, and dysmenorrhea that usually begins shortly after menarche. Clinical suspicion is very important for diagnosis and correct management avoids both short- and long-term complications...
December 2016: Turk J Obstet Gynecol
https://www.readbyqxmd.com/read/28912977/isolated-persistent-left-superior-vena-cava-sick-sinus-syndrome-and-challenging-pacemaker-implantation
#14
Hatice S Kemal, Aziz Gunsel, Levent Cerit, Murat Kocaoglu, Hamza Duygu
Persistent left superior vena cava with absent right superior vena cava is a very rare venous anomaly and is known as isolated PLSVC. It is usually an asymptomatic anomaly and is mostly detected during difficult central venous access or pacemaker implantation, though it could also be associated with an increased incidence of congenital heart disease, arrhythmias, and conduction disturbances. Herein, we describe a dual-chamber pacemaker implantation in a patient with isolated PLSVC and sick sinus syndrome.
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28910997/paediatric-nuclear-medicine-imaging
#15
Lorenzo Biassoni, Marina Easty
Background: Nuclear medicine imaging explores tissue viability and function by using radiotracers that are taken up at cellular level with different mechanism. This imaging technique can also be used to assess blood flow and transit through tubular organs. Nuclear medicine imaging has been used in paediatrics for decades and this field is continuously evolving. Sources of data: The data presented comes from clinical experience and some milestone papers on the subject...
September 1, 2017: British Medical Bulletin
https://www.readbyqxmd.com/read/28906376/nucleotide-variants-of-the-nat2-and-egf61-genes-in-patients-in-northern-china-with-nonsyndromic-cleft-lip-with-or-without-cleft-palate
#16
Jiaqun Yan, Hongquan Song, Na Mi, Xiaohui Jiao, Yanru Hao
BACKGROUND: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common orofacial congenital anomaly. The objective of the present study was to analyze the association of single nucleotide polymorphisms (SNPs) in the NAT2 and EGF61genes with NSCL/P in a Chinese population. METHODS: The frequencies of NAT2 (rs1799929)and EGF61 (rs4444903) gene variations were examined in a group of 285 NSCL/P patients and in 315 controls. Peripheral venous blood samples were collected for DNA extraction...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28902643/prevalence-and-characteristics-of-coronary-artery-anomalies-in-children-with-congenital-heart-disease-diagnosed-with-coronary-angiography
#17
Münevver Tuğba Temel, Mehmet Enes Coşkun, Osman Başpınar, Abdullah Tuncay Demiryürek
OBJECTIVE: Aim of the present study was to determine the prevalence of coronary artery anomalies in children with congenital heart disease. METHODS: Data of 1138 consecutive patients who were referred for cardiac catheterization and angiography for assessment of coronary anomaly between January 2005 and December 2009 were retrospectively analyzed. Total of 515 patients whose coronary arteries could be examined through left ventricle and aortic root injection were included in the study...
September 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28901230/clinical-progress-in-the-management-of-tetralogy-of-fallot-in-the-dominican-republic-a-case-series
#18
María T Perez, Marietta Vázquez, Michael F Canarie, Janet Toribio, Juan León-Wyss
BACKGROUND: Definitive surgical interventions for Dominican children with congenital heart disease, like those of other low- and middle-income countries, have been historically limited. METHODS: We undertook review of a case series focusing on the surgical correction of complex forms of tetralogy of Fallot at a single center, CEDIMAT Centro Cardiovascular, in the Dominican Republic, over a 30-month period. RESULTS: According to our criteria, 43 cases were determined to be complex tetralogy of Fallot repairs from the two-year period...
September 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28899421/scrotoschisis-a-case-report
#19
Souleymane Sidibe, Maxime Coulibaly, Salman Ghazwani
BACKGROUND: Scrotoschisis is a rare congenital anomaly of the scrotal wall with idiopathic etiology and unknown prevalence. This pathology is extremely rare. We report a new case and review the literature for relevant data. CASE PRESENTATION: A 3-day-old full-term baby boy of African ethnicity, who had a homebirth, with birth weight of 2.7 kg presented to our emergency department with exteriorization of left testis; after clinical examination and proper investigations the diagnosis was scrotoschisis...
September 13, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28898547/hlx-is-a-candidate-gene-for-a-pattern-of-anomalies-associated-with-congenital-diaphragmatic-hernia-short-bowel-and-asplenia
#20
Sandra A Farrell, Sandi Sodhi, Christian R Marshall, Andrea Guerin, Anne Slavotinek, Tara Paton, Karen Chong, Wilma L Sirkin, Stephen W Scherer, Félix-Antoine Bérubé-Simard, Nicolas Pilon
Isolated congenital diaphragmatic hernia is often a sporadic event with a low recurrence risk. However, underlying genetic etiologies, such as chromosome anomalies or single gene disorders, are identified in a small number of individuals. We describe two fetuses with a unique pattern of multiple congenital anomalies, including diaphragmatic hernia, short bowel and asplenia, born to first-cousin parents. Whole exome sequencing showed that both were homozygous for a missense variant, c.950A>C, predicting p...
September 12, 2017: American Journal of Medical Genetics. Part A
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