keyword
MENU ▼
Read by QxMD icon Read
search

congenital anomalies

keyword
https://www.readbyqxmd.com/read/28931028/the-efficacy-of-extracorporeal-shockwave-lithotripsy-for-symptomatic-ureteral-stones-predictors-of-treatment-failure-without-the-assistance-of-computed-tomography
#1
Bing-Juin Chiang, Chun-Hou Liao, Yu-Hua Lin
OBJECTIVES: Non-contrast computed tomography (NCCT) is not always performed clinically if the diagnosis of ureteral calculi has been confirmed using other radiographic imaging modalities. The aim of this study was to identify predictors of successful extracorporeal shockwave lithotripsy (ESWL) without assistance of NCCT. METHODS: We retrospectively reviewed the medical records of patients with symptomatic solitary ureteral stones who underwent ESWL between November 2015 and January 2016...
2017: PloS One
https://www.readbyqxmd.com/read/28930371/polyhydramnios-frequency-of-congenital-anomalies-in-relation-to-the-value-of-the-amniotic-fluid-index
#2
Jakub Kornacki, Magdalena Adamczyk, Przemysław Wirstlein, Maciej Osiński, Ewa Wender-Ożegowska
OBJECTIVES: The aims of our study were to assess the correlation between the amniotic fluid index (AFI) value and the frequency and type of fetal anomalies. MATERIAL AND METHODS: The material included 94 patients at the third trimester of pregnancy, 60 with mild polyhydramnios, 19 with moderate one, and 15 with severe one. Polyhydramnios was diagnosed if AFI was > 24 cm. All patients were divided into three groups based on the value of AFI: 1) mild polyhydramnios with AFI between 24...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28929069/our-experience-of-treating-wide-spectrum-of-external-ear-canal-atresia-of-different-etiologies-in-pediatric-patients
#3
Kranti Bhavana
External auditory canal atresia (EACA) is a common otologic condition. Etiology can vary from congenital to acquired causes. It causes considerable difficulty to the patient. Bilateral ear canal atresia in children can lead to speech delays due to hearing impairment caused by this condition. Though easily diagnosed it is one of the most difficult conditions to treat. Acquired conditions can affect any age group. Restenosis following treatment is very common. This article focuses on the treatment of EACA due to different etiologies and emphasizes on special points of surgical treatment and follow up...
September 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/28928990/detection-of-a-left-superior-vena-cava-during-a-pacemaker-implantation-in-cotonou
#4
A Sonou, M Hounkponou, L Codjo, P M Adjagba, C Houehanou, H Dohou, S Assani, Y Tchabi, M Houenassi
Persistent left superior vena cava (LSVC) is a rare congenital anomaly. Its prevalence in the general population is 0.1 to 0.5%. LSVC is 5 times rarer when accompanied by an absence of the right superior vena cava (RSVC). We present the case of a 54-year-old man who carries a persistent LSVC without RSVC. Clinically, this patient presented a regular bradycardia at 40 per minute associated with a heart failure syndrome. The electrocardiogram diagnosed a complete atrioventricular block and transthoracic echocardiography showed dilated left heart cavities and a left ventricular ejection fraction of 50%...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28928250/coexistent-duplication-of-urethra-and-a-refluxing-ectopic-ureter-presenting-as-recurrent-epididymo-orchitis-in-a-child
#5
Ferzine Mohamed, Susan Jehangir
Congenital anomalies of the kidney and urinary tract (CAKUTs) occur in 3-6 per 1000 live births, accounting for most cases of paediatric end-stage kidney disease.(1) However, the molecular basis of CAKUT and anomalies of the external genitalia is poorly understood. We, herein, describe a case with left recurrent epididymo-orchitis with a coexistent urethral duplication and an ectopic ureter with an ipsilateral non-functioning kidney, which is, to the best of our knowledge, the first reported case of its kind...
September 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28927039/an-unexpected-invasive-hydatidiform-mole-in-a-rudimentary-uterine-horn-a-case-report
#6
Manfei Si, Peng Li, Zeng Yuan, Hui Ma, Baoxia Cui, Beihua Kong
Rudimentary horns of the uterus develop as a result of a partial non-development of one Müllerian duct, a type of congenital uterine anomaly. Pregnancy in a rudimentary horn is uncommon and the outcome tends to be poor, with the majority of cases resulting in rupture between 10 and 15 gestational weeks, with significant risk of morbidity and mortality. Regardless of the availability of imagiological procedures and the advances being made in this field, the diagnosis of this type of ectopic pregnancy often only occurs during laparotomy or laparoscopy subsequent to abdominal pain and collapse...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28925590/analytic-methods-for-evaluating-patterns-of-multiple-congenital-anomalies-in-birth-defect-registries
#7
REVIEW
A J Agopian, Jane A Evans, Philip J Lupo
BACKGROUND: It is estimated that 20 to 30% of infants with birth defects have two or more birth defects. Among these infants with multiple congenital anomalies (MCA), co-occurring anomalies may represent either chance (i.e., unrelated etiologies) or pathogenically associated patterns of anomalies. While some MCA patterns have been recognized and described (e.g., known syndromes), others have not been identified or characterized. Elucidating these patterns may result in a better understanding of the etiologies of these MCAs...
September 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28924546/sirenomelia-associated-with-hypoplastic-left-heart-in-a-newborn
#8
H Turgut, R Ozdemir, I K Gokce, C Karakurt, A Karadag
Sirenomelia, also known as "mermaid malformation/syndrome," is a rare, serious congenital anomaly characterized by variable degrees of fusion of the lower limbs and associated with severe malformations of vertebral, genitourinary, cardiovascular system and single umbilical artery. The first pregnancy of a 25-year-old woman resulted in one twin born by Cesarian section at 32 weeks' gestation, who was referred to our hospital with cyanosis, a congenital anomaly and respiratory distress. On physical examination, there was no urogenital region and anal fissure and gender was indeterminate...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924535/benign-pathogenic-and-copy-number-variations-of-unknown-clinical-significance-in-patients-with-congenital-malformations-and-developmental-delay
#9
M Mihaylova, R Staneva, D Toncheva, M Pancheva, S Hadjidekova
The high frequency (3.0-5.0%) of congenital anomalies (CA) and intellectual disabilities (IDs), make them a serious problem, responsible for a high percentage (33.0%) of neonatal mortality. The genetic cause remains unclear in 40.0% of cases. Recently, molecular karyotyping has become the most powerful method for detection of pathogenic imbalances in patients with multiple CAs and IDs. This method is with high resolution and gives us the opportunity to investigate and identify candidate genes that could explain the genotype-phenotype correlations...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28924092/extralobar-pulmonary-sequestration-in-two-pinniped-species
#10
Shotaro Nakagun, Hirotaka Watanabe, Kenji Ochiai, Kaoru Kohyama, Wataru Goshima, Yoko Goto, Yumi Kobayashi, Kennichi Watanabe, Noriyuki Horiuchi, Jun Sasaki, Masanobu Goryo, Yoshiyasu Kobayashi
Two cases of extralobar pulmonary sequestrations from a walrus (Odobenus rosmarus) and a Steller sea lion (Eumetopias jubatus) are described in the present study. Grossly, an independent, soft unilocular cystic mass was found within the abdominal cavities of both animals, adherent to the diaphragm in O. rosmarus and attached to the cardia of the stomach in E. jubatus. Histopathologically, the cysts were lined by pseudostratified ciliated columnar epithelium with abundant goblet cells, while the wall comprised of glands, hyaline cartilage, bronchiole- and alveolus-like structures, smooth muscles, and large, well-developed elastic and muscular arteries...
September 17, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28922239/cleft-lip-and-palate-an-experience-of-a-developing-center-in-egypt
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
82359
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"