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https://www.readbyqxmd.com/read/28079698/pediatric-hand-surgery-in-global-health-the-role-for-international-outreach
#1
Karen Y Chung, Amanda Hanemaayer, Dan Poenaru
PURPOSE: There is emerging interest in hand surgery and global health. This was emphasized at the 2015 presidential address at the American Society for Surgery of Hand. Children are prioritized because of their increased risk for trauma and higher potential for better outcomes. This study aims to identify how hand surgical volunteer programs can benefit the pediatric hand surgical landscape in global health. There has been no literature review to date. METHODS: This institutional review board-approved review systematically searched PubMed, Embase, Medline, African Journal Online, and the Journal of Hand Surgery...
February 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28079045/hernia-of-the-umbilical-cord-associated-with-a-patent-omphalomesenteric-duct
#2
M Raicevic, I Filipovic, S Sindjic-Antunovic
Congenital hernia of the cord is a different type of ventral abdominal wall defect in which the bowel usually herniates into the base of normally inserted umbilical cord through a patent umbilical ring. It is rare congenital anomaly with incidence of 1 in 5000. Although it was described as a distinct entity since 1920s it is often misdiagnosed as a small omphalocele. We present an unusal case of term male newborn with umbilical cord hernia associated with patent omphalomesenteric duct. The diagnose was made after birth despite antenatal ultrasound scans and it is managed successfully with uneventful recovery...
January 2017: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/28078779/association-between-zika-virus-and-foetopathy-a-prospective-cohort-study-in-french-guiana-preliminary-report
#3
Pomar Léo, Malinger Gustavo, Benoist Guillaume, Carles Gabriel, Ville Yves, Rousset Dominique, Hcini Najeh, Pomar Céline, Jolivet Anne, Lambert Véronique
OBJECTIVES: The main objectives of the present study were to establish the existence of significant differences in the incidence of central nervous system (CNS) anomalies (including microcephaly), signs of congenital infection, or foetal loss between Zika virus (ZIKV)-infected and non-infected pregnant women in western French Guiana. METHODS: This prospective cohort study was conducted between January 1(st) and July 15(th) 2016. We evaluated the clinical and foetal ultrasound (US) examinations of 301 pregnant women with biological confirmation of ZIKV infection and 399 pregnant women who were negative for ZIKV infection...
January 12, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28077639/identification-of-a-continuous-neutralizing-epitope-within-ul128-of-human-cytomegalovirus
#4
Flavia Chiuppesi, Teodora Kaltcheva, Meng Zhuo, Peter A Barry, Don J Diamond, Felix Wussow
: As human cytomegalovirus (HCMV) is the most common infectious cause of fetal anomalies during pregnancy, developing a vaccine that prevents HCMV infection is considered a global health priority. Although HCMV immune correlates of protection are only poorly defined, neutralizing antibodies (NAb) targeting the envelope pentamer complex (PC) composed of subunits gH, gL, UL128, UL130, and UL131A are thought to contribute in preventing HCMV infection. Here, we describe a continuous target sequence within UL128 that is recognized by a previously isolated potent PC-specific NAb, termed 13B5...
January 11, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28077135/comorbidity-study-of-borderline-personality-disorder-applying-association-rule-mining-to-the-taiwan-national-health-insurance-research-database
#5
Cheng-Che Shen, Li-Yu Hu, Ya-Han Hu
BACKGROUND: Borderline personality disorder (BPD) is a complex clinical state with highly polymorphic symptoms and signs. Studies have demonstrated that people with a BPD diagnosis are likely to have numerous co-occurring psychiatric disorders and physical comorbidities. The aim of our study was to obtain further insight about the associations among comorbidities of BPD and to demonstrate the practicality of using association rule mining (ARM) technique in clinical databases. METHODS: A retrospective case-control study was conducted on information of 1460 patients (292 BPD patients and 1168 control patients) selected from the Taiwan National Health Insurance Research Database...
January 11, 2017: BMC Medical Informatics and Decision Making
https://www.readbyqxmd.com/read/28076624/quadricuspid-aortic-valve-a-comprehensive-review
#6
Shi-Min Yuan
Quadricuspid aortic valve (QAV) is a rare congenital heart disease. The functional status of QAV is predominantly a pure aortic regurgitation. Clinical manifestations of patients with a QAV depend on the functional status of the QAV and the associated disorders. Significant valvular regurgitation and (or) stenosis is often present with subsequent operation performed at the fifth to sixth decade of life. The functional status of QAV is predominantly regurgitant; whereas pure stenotic QAV can be as few as in only 0...
November 2016: Brazilian Journal of Cardiovascular Surgery
https://www.readbyqxmd.com/read/28076398/identification-of-a-novel-mutation-in-brd4-that-causes-autosomal-dominant-syndromic-congenital-cataracts-associated-with-other-neuro-skeletal-anomalies
#7
Hyun-Seok Jin, Jeonhyun Kim, Woori Kwak, Hyeonsoo Jeong, Gyu-Bin Lim, Cha Gon Lee
Congenital cataracts can occur as a non-syndromic isolated ocular disease or as a part of genetic syndromes accompanied by a multi-systemic disease. Approximately 50% of all congenital cataract cases have a heterogeneous genetic basis. Here, we describe three generations of a family with an autosomal dominant inheritance pattern and common complex phenotypes, including bilateral congenital cataracts, short stature, macrocephaly, and minor skeletal anomalies. We did not find any chromosomal aberrations or gene copy number abnormalities using conventional genetic tests; accordingly, we conducted whole-exome sequencing (WES) to identify disease-causing genetic alterations in this family...
2017: PloS One
https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#8
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28075028/a-recognizable-type-of-syndromic-short-stature-with-arthrogryposis-caused-by-bi-allelic-sema3a-loss-of-function-variants
#9
Matthias Baumann, Elisabeth Steichen-Gersdorf, Birgit Krabichler, Thomas Müller, Andreas R Janecke
The semaphorins constitute a large family of secreted and membrane-associated proteins that regulate many developmental processes, including neural circuit assembly, bone formation and angiogenesis. Recently, bi-allelic loss-of-function variants in SEMA3A (semaphorin 3A) were identified in a single patient with a particular pattern of multiple congenital anomalies (MCA). Using homozygosity mapping combined with exome sequencing, we identified a homozygous SEMA3A variant causing a premature stop codon in an 8-year-old boy with the same pattern of MCA...
January 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28074828/three-dimensional-transesophageal-echocardiography-guided-transcathetar-closure-of-ruptured-noncoronary-sinus-of-valsalva-aneurysm
#10
G Anil Kumar, P S Parimala, M Jayaranganath, A M Jagadeesh
Sinus of Valsalva aneurysm accounts for only 1% of congenital cardiac anomalies. Sinus of Valsalva aneurysm can cause aortic insufficiency, coronary artery flow compromise, cardiac arrhythmia, or aneurysm rupture. Three-dimensional transesophageal echocardiography (3DTEE) represents an adjunctive tool to demonstrate the ruptured sinus of Valsalva with better delineation. We present an adult patient with rupture of noncoronary sinus of Valsalva aneurysm into the right atrium (RA). 3DTEE accurately delineated the site of rupture into the RA and showed the exact size and shape of the defect, which helped in the successful transcatheter closure of the defect with a duct occluder device...
January 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28074821/acyanotic-congenital-heart-disease-and-transesophageal-echocardiography
#11
REVIEW
Rupa Sreedhar
The spectrum of congenital heart disease (CHD) seen in the adult varies widely. Malformations range from mild anomalies requiring no intervention to extremely complex pathologies characterized by the presence of multiple coexistent defects. Echocardiography represents the primary noninvasive imaging modality in the assessment of these lesions. The transesophageal approach expands the applications of echocardiography by allowing the acquisition of anatomic and functional information that may not be obtainable by transthoracic imaging...
January 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28074532/pathogenesis-of-developmental-anomalies-of-the-central-nervous-system-induced-by-congenital-cytomegalovirus-infection
#12
REVIEW
Hideya Kawasaki, Isao Kosugi, Shiori Meguro, Toshihide Iwashita
In humans, the herpes virus family member cytomegalovirus (CMV) is the most prevalent mediator of intrauterine infection-induced congenital defect. Central nervous system (CNS) dysfunction is a distinguishing symptom of CMV infection, and characterized by ventriculoencephalitis and microglial nodular encephalitis. Reports on the initial distribution of CMV particles and its receptors on the blood brain barrier (BBB) are rare. Nevertheless, several factors are suggested to affect CMV etiology. Viral particle size is the primary factor in determining the pattern of CNS infections, followed by the expression of integrin β1 in endothelial cells, pericytes, meninges, choroid plexus, and neural stem progenitor cells (NSPCs), which are the primary targets of CMV infection...
January 10, 2017: Pathology International
https://www.readbyqxmd.com/read/28074452/hemoptysis-caused-by-pulmonary-sequestration-in-perforated-appendicitis-a-rare-case-report
#13
Dario Tartaglia, Francesca Cascione, Matteo Modesti, Desiree Gianardi, Rosilde Caputo, Christian Galatioto, Massimo Chiarugi
Pulmonary sequestration is a rare and usually asymptomatic congenital anomaly. Optimal management of this condition is still a subject of debate, including superiority of surgical resection or angiographic embolization of the aberrant arterial vessel. Presently described is rare case of a 51-year-old male who presented with hemoptysis related to pulmonary sequestration associated with acute right lower quadrant abdominal pain caused by perforated appendicitis.
November 2016: Ulusal Travma Ve Acil Cerrahi Dergisi, Turkish Journal of Trauma & Emergency Surgery: TJTES
https://www.readbyqxmd.com/read/28074379/neuroimaging-findings-of-congenital-zika-virus-infection-a-pictorial-essay
#14
Mohammad Zare Mehrjardi, Andrea Poretti, Thierry A G M Huisman, Heron Werner, Elham Keshavarz, Edward Araujo Júnior
Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses...
January 10, 2017: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/28073391/magnetic-resonance-myelography-in-congenital-absence-of-the-cervical-pedicle
#15
Rami Alhazmi, Jean-Pierre Farmer, Christine Saint-Martin
Absence of the cervical pedicle is a very rare congenital anomaly, easily misrecognized as a unilateral facet dislocation in a setting of acute trauma or a neoplastic process like a nerve sheath tumor. Although correct diagnosis can be achieved on the cervical radiograph and confirmed by the CT, MRI Myelography is clearly of additional value because shows the specific relationship and orientation of the nerve roots. To the best to our knowledge, this is the first description of MR Myelography findings.
January 11, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28073365/neurophthalmological-conditions-mimicking-glaucomatous-optic-neuropathy-analysis-of-the-most-common-causes-of-misdiagnosis
#16
Diego Torres Dias, Michele Ushida, Roberto Battistella, Syril Dorairaj, Tiago Santos Prata
BACKGROUND: To analyze the most common neurophthalmological conditions that may mimic glaucomatous optic neuropathy and to determine which most often lead to misdiagnosis when evaluated by a glaucoma specialist. METHODS: We reviewed the charts of consecutive patients with optic neuropathies caused by neurophthalmological conditions screened in a single Eye Clinic within a period of 24 months. Within these enrolled patients, we selected the eyes whose fundoscopic appearance could resemble glaucoma based in pre-defined criteria (vertical cup-to-disc ratio ≥0...
January 10, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28073206/a-singular-case-of-polyorchidism
#17
Giacomo Di Cosmo, Tommaso Silvestri, Stefano Bucci, Michele Bertolotto, Carlo Trombetta
We report a case of polyorchidism, a rare congenital anomaly, frequently discovered by chance. At current knowledge is still not defined which is the best clinical and therapeutic approach as well the best follow- up scheme due to the unclear malignant potential and rate of complications if a conservative approach is used. MRI (Magnetic Resonance Imaging) seems to be a good method to discriminate this mass from others pathological findings but there is still not enough evidence to standardize the procedure.
December 30, 2016: Archivio Italiano di Urologia, Andrologia
https://www.readbyqxmd.com/read/28072699/prevention-preferable-to-treatment-3-case-reports-of-patients-experiencing-right-sided-heart-failure-after-ebstein-anomaly-correction
#18
Ming Luo, Jing Lin, Zhen Qin, Lei Du
RATIONALE: Ebstein anomaly is a common congenital heart disease that may induce severe tricuspid regurgitation and dilation of the "atrialized" portion of the right ventricle. Patients who undergo surgery to correct Ebstein anomaly are at high risk of postoperative right-sided heart failure, yet little is known about what pre-, peri-, or postoperative procedures may help reduce this risk. PATIENT CONCERNS: Here, we describe 3 cases of adults with Ebstein anomaly who underwent corrective surgery and in whom right-sided heart failure occurred with severe tricuspid regurgitation detected by transesophageal echocardiography...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28072626/acquired-coronary-artery-disease-in-adult-patients-with-congenital-heart-disease-a-true-or-a-false-problem
#19
Alessandro Giamberti, Mauro Lo Rito, Erika Conforti, Alessandro Varrica, Mario Carminati, Alessandro Frigiola, Lorenzo Menicanti, Massimo Chessa
BACKGROUND: The population of adults with congenital heart disease (ACHD) is increasing and aging, and a large percentage of this population is now over 65 years of age. For this reason, it is probable that acquired coronary artery disease (CAD) will become an important issue that needs to be addressed also in these patients. We retrospectively analyzed all ACHD patients who underwent surgery in our Institution with the aim to investigate the incidence of associated CAD and the results of surgical treatment...
January 7, 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/28072479/reference-values-for-sonographically-estimated-fetal-weight-in-twin-gestations-stratified-by-chorionicity-a-single-center-study
#20
Rinat Gabbay-Benziv, Sarah Crimmins, Stephen A Contag
OBJECTIVES: To determine reference values for sonography-based estimated fetal weight (EFW) in twin gestations in one single tertiary medical center in the United States. METHODS: A retrospective longitudinal analysis of EFW evaluations of fetuses of twin gestations between November 2006 and June 2016. Fetuses with major congenital anomalies or chromosomal abnormalities were excluded. Estimated fetal weight was calculated using the Hadlock 1985 formula. Linear mixed models were used to allow for multiple but inconsistent observations among individuals, and to account for intertwin differences as well as for gender...
January 10, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
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