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Amniotic band

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https://www.readbyqxmd.com/read/30298484/-genetic-analysis-of-100-fetuses-with-cleft-lip-with-or-without-palate
#1
Lei Hou, Jieyan Li, Xiaoxin Wang, Tao Zhang, Li Li, Weiyuan Zhang, Xin Wang
OBJECTIVE: To explore the genetic basis for fetuses with cleft lip and palate. METHODS: For 100 fetuses diagnosed with cleft lip with or without palate, G-banding chromosomal karyotyping and copy number variation sequencing (CNV-seq) were carried out on chorionic villi, amniotic fluid or cordocentesis samples. RESULTS: No genomic abnormality was found among 49 fetuses with isolated cleft lip and palate, while 12 genomic aberrations were found among 51 fetuses with syndromic cleft lip and palate, which included 4 cases with trisomy 13, 2 cases with trisomy 18, 1 with X chromosome aneuploidy, 2 with other chromosomal aneuploidies and 3 with pathogenic CNVs...
October 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/30288637/ultrasound-evaluation-of-fetal-critical-aortic-stenosis-using-the-left-atrium-area-cardiac-area-ratio-and-the-doppler-patterns-in-the-pulmonary-veins
#2
Sachi Sukegawa, Yuka Yamamoto, Keisuke Sato, Satomi Tanaka, Toshitaka Tanaka, Naoki Mitsuhashi
In fetal critical aortic stenosis (AS), a double reverse pattern in the pulmonary veins (PVs) is associated with a poor prognosis. We evaluated the hemodynamic changes using PV Doppler and the left atrium area/cardiac area (LA/CA) ratio in a fetus at 28 weeks of gestation with critical AS complicated with hydrops fetalis, polyhydramnios, and cardiac abnormality. A markedly enlarged LA and severe mitral regurgitation with critical AS were detected, with LA/CA ratio = 0.40 and double reverse pattern with forward/reverse velocity time integral ratio (FRVR) = 1...
October 4, 2018: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/30106805/digital-facial-translocation-in-amniotic-band-sequence-evidence-of-the-intrinsic-theory
#3
Brielle Weinstein, Mahmoud Hassouba, Roberto L Flores, David A Staffenberg, Christopher B Gordon, Christopher M Runyan
Amniotic band sequence is a complex congenital anomaly in which infants with typically no known genetic mutation have bands of maternal amniotic tissue wrapped around body parts, most commonly the limbs and digits. The authors report a novel variation on this presentation in 3 patients from 2 centers with complex craniofacial clefting and amniotic band sequence. They presented with hypertelorism, different forms of complex craniofacial clefting, and bands connecting ipsilateral hands to facial clefts, with digital-facial translocation in 2 cases...
October 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/30088852/a-comprehensive-clinical-and-genetic-study-in-127-patients-with-id-in-kinshasa-dr-congo
#4
Aimé Lumaka, Valerie Race, Hilde Peeters, Anniek Corveleyn, Zeynep Coban-Akdemir, Shalini N Jhangiani, Xiaofei Song, Gerrye Mubungu, Jennifer Posey, James R Lupski, Joris R Vermeesch, Prosper Lukusa, Koenraad Devriendt
Pathogenic variants account for 4 to 41% of patients with intellectual disability (ID) or developmental delay (DD). In Sub-Saharan Africa, the prevalence of ID is thought to be higher, but data in Central Africa are limited to some case reports. In addition, clinical descriptions of some syndromes are not available for this population. This study aimed at providing an estimate for the fraction of ID/DD for which an underlying etiological genetic cause may be elucidated and provide insights into their clinical presentation in special institutions in a Central African country...
August 8, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29996031/chromosome-2-microdeletion-syndrome-in-a-newborn-with-amniotic-band-sequence
#5
Teresa Mallett, Michelle McElroy, Kali Swift, Suzanne Reuter
We report a case of amniotic band sequence (ABS) with a 5 kilobase microdeletion at 2p15. The newborn was delivered with absence of the right hand and distal segments of the left digits, consistent with amniotic band sequence. The clinical findings included a lumbar meningocele, bilateral clubfeet, adrenal hypertrophy, microcephaly, and facial dysmorphism. Due to these congenital anomalies not directly associated with ABS, a SNP chromosomal microarray was ordered and identified a 51 kilobase deletion at 2p15, which includes two known genes, USP34 (ubiquitin specific protease 34) and SNORA70B (small nucleolar RNA H/ACA box 70B)...
April 2018: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/29980930/study-of-pallial-neurogenesis-in-shark-embryos-and-the-evolutionary-origin-of-the-subventricular-zone
#6
A Docampo-Seara, R Lagadec, S Mazan, M A Rodríguez, I Quintana-Urzainqui, E Candal
The dorsal part of the developing telencephalon is one of the brain areas that has suffered most drastic changes throughout vertebrate evolution. Its evolutionary increase in complexity was thought to be partly achieved by the appearance of a new neurogenic niche in the embryonic subventricular zone (SVZ). Here, a new kind of amplifying progenitors (basal progenitors) expressing Tbr2, undergo a second round of divisions, which is believed to have contributed to the expansion of the neocortex. Accordingly, the existence of a pallial SVZ has been classically considered exclusive of mammals...
July 6, 2018: Brain Structure & Function
https://www.readbyqxmd.com/read/29877030/population-based-trends-in-ultrasound-indicated-prenatal-diagnosis-from-1994-to-2016-two-decades-of-change
#7
Emily Lostchuck, Alice Poulton, Jane Halliday, Lisa Hui
OBJECTIVES: To assess trends in ultrasound-indicated prenatal diagnostic testing over the past two decades, in the context of rapidly-changing practices in aneuploidy screening and chromosome analysis. METHODS: Retrospective analysis of ultrasound-indicated amniocenteses and chorionic villus sampling from the Australian state of Victoria from 1994-2016. Ultrasound-indicated prenatal diagnostic testing included those performed for: fetal structural abnormality, fetal death, fetal growth restriction, abnormal amniotic fluid volume, genetic "soft marker", or unspecified ultrasound abnormality...
June 6, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29876159/the-impact-of-microsurgery-on-congenital-hand-anomalies-associated-with-amniotic-band-syndrome
#8
David T W Chiu, Anup Patel, Sara Sakamoto, Alice Chu
Background: Amniotic Band Syndrome is a clinical constellation of congenital anomalies characterized by constricting rings, tissue synechiae and amputation of body parts distal to the constriction bands. Involvement of the hand with loss of multiple digits not only leads to devastating deformities but also loss of functionality. Methods: In this series, utilizing microvascular transfer of the second toe from both feet, along with local tissue reconfiguration, a tetra-digital hand with simile of normal cascade was reconstructed...
April 2018: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/29848527/congenital-limb-deficiency-requiring-transfemoral-amputation
#9
Venus Vakhshori, Ram K Alluri, Rachel Y Goldstein
A healthy female infant was born from a twin pregnancy with an isolated congenital lower extremity malformation. Aside from prenatally diagnosed polyhydramnios, the infant had normal prenatal and postnatal diagnostic workup. She underwent transfemoral amputation and healed uneventfully. Congenital limb anomalies may be the result of an unidentified amniotic band, thromboembolic event or twin-twin transfusion syndrome, though in this case, prenatal screening did not indicate any evidence of a limb anomaly and postnatal workup was negative...
May 30, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29756715/an-update-on-amniotic-bands-sequence
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
REVIEW
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
#17
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
#18
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
#19
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
#20
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
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