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Amniotic band

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https://www.readbyqxmd.com/read/29756715/an-update-on-amniotic-bands-sequence
#1
Eunice López-Muñoz, Luis E Becerra-Solano
Amniotic bands sequence is a congenital disorder characterized by craniofacial, body wall, and limb anomalies that may be associated with fetalplacental fibrous bands. Its prevalence has been reported to range from 0.19 to 8.1 per 10 000 births. Different theories have attempted to explain the etiology of amniotic band sequence; however, none has individually been able to support each and every defect observed, so it has been considered to be a multifactorial condition. The (pre- and post-natal) identification of anomalies suggestive of amniotic band sequence is useful for the diagnostic approach and implementation of timely therapeutic interventions favoring the release of the amniotic bands using fetoscopy with recovery of the involved distal limb perfusion, or else the possibility of performing a post-natal surgical repair...
June 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29754139/dichorionic-twins-discordant-for-body-stalk-anomaly-a-management-challenge
#2
Rita Caldas, Cátia Rodrigues, Carla Pina, Rosete Nogueira
Body-stalk anomaly is a sporadic and rare maldevelopment disorder characterised by large abdominal wall defect, spinal deformity and rudimentary umbilical cord. It is considered a lethal condition as there are only few reports of survival but there was at least one case of long-term survival after neonatal surgery.Differential diagnosis includes isolated omphalocele or gastroschisis, short umbilical cord, amniotic band, limb body-wall complex and other polymalformative syndromes.There are few reports about the expectant prenatal management of the body stalk anomaly as the majority of prenatal diagnosed cases undergo early elective termination...
May 12, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29653009/-cytogenetic-and-molecular-genetic-analysis-of-the-amniotic-fluid-cells-of-a-fetus-with-pseudodicentric-isochromosome-22-resulting-in-partial-tetraploidy-of-22q
#3
Yanyan Shen, Hui Kong, Huan Zeng, Qiong Wu, Jiayan Chen, Dongxing Zhou, Jian Zhang, Yunsheng Ge, Feng Ding
OBJECTIVE: To diagnose chromosomal abnormalities in amniotic fluid cells by combining karyotyping and single nucleotide polymorphism array (SNP-array) analysis, and to explore the application of SNP-array in routine clinical practice. METHODS: Conventional G banding was used to karyotype a fetal amniotic fluid sample and the corresponding peripheral blood samples from the parents, followed by SNP-array analysis of the fetal genomic DNA from the amniotic fluid. RESULTS: The karyotype of the amniocytes was 47, XX, +mar...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29624436/amniotic-band-syndrome-a-multidisciplinary-care-approach-to-the-treatment-of-a-rare-case
#4
Padma M Mukherjee, Marianella Natera, Howard Drew, Adriana Creanga
Amniotic band syndrome (ABS) is a rare developmental disorder associated with defects such as syndactyly, facial and/or palatal clefts, and dental anomalies like malformed or impacted teeth. In this report, a patient with ABS was successfully treated with orthodontic, endodontic, and periodontal therapies. Cone beam computed tomography revealed a unique eruptive path of the impacted central incisor through the incisive canal and cleft area. The tooth was occlusally and functionally stable after 1 year of treatment...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29575915/transfer-of-egg-white-proteins-and-activation-of-proteases-during-the-development-of-anas-platyrhynchos-domestica-embryo
#5
Seba Jamal Shbailat, Razan Ataallah Abuassaf
The route of egg white transfer into the yolk and the mechanisms underlying the digestion of egg proteins are unexplored in the fertilized egg of the duck, Anas platyrhynchos domestica. Here, we investigated the route(s) of egg white transfer and we determined the type of activated proteases during duck embryo development. Initially, we tested the electrophoretic patterns of egg proteins throughout development. Then, we used lysozyme as a reference protein to follow egg white transfer and we measured its activity...
March 2018: Acta Biologica Hungarica
https://www.readbyqxmd.com/read/29531530/gap-junctions-are-involved-in-the-rescue-of-cftr-dependent-chloride-efflux-by-amniotic-mesenchymal-stem-cells-in-coculture-with-cystic-fibrosis-cfbe41o-cells
#6
Annalucia Carbone, Roberto Zefferino, Elisa Beccia, Valeria Casavola, Stefano Castellani, Sante Di Gioia, Valentina Giannone, Manuela Seia, Antonella Angiolillo, Carla Colombo, Maria Favia, Massimo Conese
We previously found that human amniotic mesenchymal stem cells (hAMSCs) in coculture with CF immortalised airway epithelial cells (CFBE41o- line, CFBE) on Transwell® filters acquired an epithelial phenotype and led to the expression of a mature and functional CFTR protein. In order to explore the role of gap junction- (GJ-) mediated intercellular communication (GJIC) in this rescue, cocultures (hAMSC : CFBE, 1 : 5 ratio) were studied for the formation of GJIC, before and after silencing connexin 43 (Cx43), a major component of GJs...
2018: Stem Cells International
https://www.readbyqxmd.com/read/29528829/intrauterine-linear-echogenicities-in-the-gravid-uterus-what-radiologists-should-know
#7
Kyle K Jensen, Karen Y Oh, Anne M Kennedy, Roya Sohaey
Intrauterine linear echogenicity (ILE) is a common ultrasonographic finding in the gravid uterus and has variable causes and variable maternal and fetal outcomes. Correctly categorizing ILE during pregnancy is crucial for guiding surveillance and advanced imaging strategies. Common causes of ILE include membranes in multiple gestations, uterine synechiae with amniotic sheets, and uterine duplication anomalies. Less common causes include circumvallate placenta, chorioamniotic separation, and hemorrhage between membranes...
March 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29478484/retraction-notice-to-amniotic-band-syndrome-with-pseudoarthrosis-of-tibia-and-fibula-a-case-report-j-foot-ankle-surg-56-2017-1121-1124
#8
Anitha Ananthan, Gayatri Athalye Jape, Jean Du Plessis, Peter Annear, Rohan Page, Shripada Rao
No abstract text is available yet for this article.
March 2018: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29377641/malformations-attributed-to-the-process-of-vascular-disruption
#9
Lewis B Holmes, Marie-Noel Westgate, Hanah Nasri, M Hassan Toufaily
BACKGROUND: Several malformations have been attributed to the process of vascular disruption. The central hypothesis for this etiology is that blood flow to a structure has been altered after that structure had formed normally. The decreased blood flow leads to hypoxia, endothelial cell damage, hemorrhage, tissue loss, and repair. After recovery, some structures are normal and others show either tissue loss or structural abnormalities, such as syndactyly and constriction rings. METHODS: The phenotypic features of the 7,020 infants with one or more malformations, who were born to women who had always planned to deliver at Brigham and Women's Hospital (BWH) between, 1972 and 2012, that is, maternal nontransfers, were reviewed...
January 2018: Birth defects research
https://www.readbyqxmd.com/read/29336649/severe-craniofacial-involvement-due-to-amniotic-band-sequence
#10
Luis Eduardo Becerra-Solano, Gema Castañeda-Cisneros, Jorge Roman Corona-Rivera, Manuel Díaz-Rodríguez, Luis Eduardo Figuera, Eunice López-Muñoz, José Antonio Nastasi-Catanese, José Jesús Toscano-Flores, María de Lourdes Ramírez-Dueñas, José Elias García-Ortíz
BACKGROUND: Disruptive amniotic band sequence (DABS) is a sporadic, non-familial disorder with unclear etiology. Diagnosis is based on clinical features because there is currently no reliable laboratory diagnostic tests. OBJECTIVE: We describe six cases of DABS with severe craniofacial deformations, three with and three without classical constrictive limb deformation. RESULTS: The craniofacial deformities were delimited by peripheral sharply demarcated scarring...
February 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29319351/amniotic-constriction-bands-secondary-deformities-and-their-treatments
#11
Benjamin T Drury, Ghazi M Rayan
BACKGROUND: The purpose of this study was to report the surgical treatment experience of patients with amniotic constriction bands (ACB) over a 35-year interval and detail consequential limb deformities with emphasis on hands and upper extremities, along with the nature and frequency of their surgical treatment methods. METHODS: Fifty-one patients were identified; 26 were males and 25 females. The total number of deformities was listed. The total number of operations, individual procedures, and operations plus procedures that were done for each patient and their frequency were recorded...
January 1, 2018: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/29316210/fate-of-egg-proteins-during-the-development-of-columba-livia-domestica-embryo
#12
Seba Jamal Shbailat, Ibtisam Omar Aslan
The transfer of egg white into the yolk and consumption of yolk proteins by the embryo are largely unexplored in the pigeon Columba livia domestica. Here, we investigated the route of egg white transfer as well as the degradation and uptake of yolk proteins by the pigeon embryo. Initially, we tested the electrophoretic patterns of proteins in different egg compartments throughout development. Then, we used lysozyme as a reference protein to follow the egg white transfer, and we measured its activity using Micrococcus lysodeikticus as a substrate...
January 2018: Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution
https://www.readbyqxmd.com/read/29246756/tessier-number-4-bilateral-craniofacial-cleft-associated-with-amniotic-band-syndrome-22-years-of-follow-up
#13
C Assouan, B Ambroise, M de Boutray, D Labbé, H Bénateau, A Veyssiere
Tessier clefts are a very rare entity. Number 4 Tessier cleft is describe like an orbito-facial cleft with trajectory between the lower eyelid and the lip. We report management of a bilateral number 4 Tessier cleft with amniotic band syndrome with 22 years of follow-up. After reviewing literature, we talk about difficulty to manage these kinds of rare Tessier clefts.
December 12, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29188606/-chromosome-microarray-analysis-of-four-fetuses-with-abnormal-karyotypes
#14
Ruifang Zhu, Xiangyu Zhu, Ying Yang, Xing Wu, Ying Zhang, Yiyan Shi, Linlin He, Jie Li
OBJECTIVE: To carry out chromosomal microarray analysis (CMA) on four fetuses with abnormal karyotypes. METHODS: Amniotic fluid samples were obtained and subjected to routine G-banded karyotyping analysis. CMA was applied for cultured amniocytes to determine alterations of gene dosage and chromosomal breakpoints. RESULTS: Abnormal karyotypes were found in the parents of 3 fetuses. Parental karyotypes of the remaining fetus were normal. Imbalance chromosome rearrangements were revealed by CMA in all 4 cases...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29045977/-clinical-and-genetic-characteristics-of-williams-beuren-syndrome-2-cases-report
#15
S Q Wang, Z X Yang, H Li
To explore the clinical and genetic characteristics of Williams-Beuren syndrome (WBS) and to raise awareness of the disease. The characteristics of clinical manifestations, personal history, cardiac ultrasound, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) and chromosome detection results of two cases with WBS were analyzed. The two patients were both male and the age was 11 months and 1 day, and 9 months and 9 days, respectively. They both suffered from cardiovascular malformation: case one presented supravalvular aortic stenosis, and case two showed atrial septal defect and patent ductus arteriosus...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/29032050/positive-predictive-value-estimates-for-cell-free-noninvasive-prenatal-screening-from-data-of-a-large-referral-genetic-diagnostic-laboratory
#16
Andrea K Petersen, Sau Wai Cheung, Janice L Smith, Weimin Bi, Patricia A Ward, Sandra Peacock, Alicia Braxton, Ignatia B Van Den Veyver, Amy M Breman
BACKGROUND: Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, have lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre- and posttest counseling, pre/perinatal decision making, and medical risk assessment/management...
December 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28882138/a-dual-therapy-of-off-pump-temporary-left-ventricular-extracorporeal-device-and-amniotic-stem-cell-for-cardiogenic-shock
#17
Toshinobu Kazui, Phat L Tran, Tia R Pilikian, Katie M Marsh, Raymond Runyan, John Konhilas, Richard Smith, Zain I Khalpey
BACKGROUND: Temporary mechanical circulatory support device without sternotomy has been highly advocated for severe cardiogenic shock patient but little is known when coupled with amniotic stem cell therapy. CASE PRESENTATION: This case reports the first dual therapy of temporary left ventricular extracorporeal device CentriMag with distal banding technique and human amniotic stem cell injection for treating a severe refractory cardiogenic shock of an 68-year-old female patient...
September 7, 2017: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/28870722/umbilical-cord-strangulation-by-amniotic-bands
#18
Leslee A Larsen
No abstract text is available yet for this article.
September 1, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28856023/body-stalk-anomaly-antenatal-sonographic-diagnosis-of-this-rare-entity-with-review-of-literature
#19
Amandeep Singh, Jasmeet Singh, Kamlesh Gupta
Body stalk anomaly is a rare and severe malformation syndrome in which the exact pathophysiology and trigger factors are still unknown. Possible causes of body stalk anomaly include early amnion rupture with direct mechanical pressure and amniotic bands, vascular disruption of the early embryo, or an abnormality in the germinal disk. We present a case of body stalk anomaly diagnosed during antenatal sonographic evaluation at the first visit with the review of literature regarding this phenomenon. Sonographic features of the fetus included a severe midline defect of the fetal abdominal wall with a large extra-abdominal mass containing bowel and liver inside...
June 2017: Journal of Ultrasonography
https://www.readbyqxmd.com/read/28828329/next-generation-sequencing-and-karyotype-analysis-for-the-diagnosis-of-robertsonian-translocation-type-trisomy-13-a-case-report
#20
Jing Sha, Fumin Liu, Bei Zhang, Yang Huang, Qinglin Zhang, Gao Juan, Jingfang Zhai
Trisomy 13 (Patau syndrome) is the third most common autosomal trisomy with a prevalence between 1 in 10,000 - 20,000 live births. Robertsonian translocations represent the largest number of chromosomal aberrations in human population with an incidence of 1.23 in 1000 live birth and translocation 13;14 is one of the most frequent Robertsonian translocations (approximately 75%). We sampled umbilical vein blood from a 27-yr-old woman whose ultrasonography findings revealed congenital heart defects, single ventricle, polycystic kidney, median cleft lip and palate and holoprosencephaly at gestational age of 23+6 weeks for karyotype and sequencing during intra-amniotic cavity injection of acrinol for labor induction...
June 2017: Iranian Journal of Public Health
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