keyword
https://read.qxmd.com/read/38534523/profile-of-a-multivariate-observation-under-destructive-sampling-a-monte-carlo-approach-to-a-case-of-spina-bifida
#1
JOURNAL ARTICLE
Tianyuan Guan, Rigwed Tatu, Koffi Wima, Marc Oria, Jose L Peiro, Chia-Ying Lin, Marepalli B Rao
A biodegradable hybrid polymer patch was invented at the University of Cincinnati to cover gaps on the skin over the spinal column of a growing fetus, characterized by the medical condition spina bifida. The inserted patch faces amniotic fluid (AF) on one side and cerebrospinal fluid on the other side. The goal is to provide a profile of the roughness of a patch over time at 0, 4, 8, 12, and 16 weeks with a 95% confidence band. The patch is soaked in a test tube filled with either amniotic fluid (AF) or phosphate-buffered saline (PBS) in the lab...
March 3, 2024: Bioengineering
https://read.qxmd.com/read/38496138/arthroscopic-transphyseal-acl-reconstruction-with-lateral-extraarticular-tenodesis-with-unusual-arthroscopic-meniscal-findings-in-a-case-of-an-adolescent-girl-previously-diagnosed-with-amniotic-band-syndrome
#2
Dhruva Angachekar, Abhay Narvekar, Shivam Patel, Shaswat Shetty
Amniotic band syndrome (ABS) constriction rings in the lower limb are common. Despite this, there is insufficient literature on anatomical abnormalities in the knee joints of children with ABS. There is an increasing incidence of paediatric anterior cruciate ligament (ACL) injuries recently. ACL reconstruction in this population has an extra dilemma of sparing the physis to prevent growth disturbances. Treating both these conditions simultaneously is a challenge that is rarely encountered. In our literature review, we found no case such as this...
February 2024: Curēus
https://read.qxmd.com/read/38490707/presentation-and-multidisciplinary-management-of-a-unique-case-of-lower-limb-dysmelia-resulting-from-amniotic-band-syndrome
#3
JOURNAL ARTICLE
Katherine Radcliffe, Kajal Gohil, James D Bedford
A neonate was born with a unique congenital lower limb dysmelia due to an abnormal presentation of amniotic band syndrome. An anomalous soft tissue tether from the plantar surface of the right foot to the right buttock caused extreme knee flexion, tibial rotation and malformation of the developing foot. This complex malformation required a multidisciplinary team (MDT) approach to decide between reconstruction and amputation. The band of tissue was released operatively at 73 days postdelivery, improving knee extension, and the tissue was banked on the thigh as a tube pedicle for future reconstruction...
March 15, 2024: BMJ Case Reports
https://read.qxmd.com/read/38472990/body-stalk-anomaly
#4
JOURNAL ARTICLE
Nicolae Gică, Livia Mihaela Apostol, Iulia Huluță, Anca Maria Panaitescu, Ana Maria Vayna, Gheorghe Peltecu, Nicoleta Gana
Abdominal wall defects encompass three primary classifications: gastroschisis, omphalocele and anomalies resembling body stalk. Potential causative factors include early amnion rupture, amniotic bands, vascular disruptions or abnormal folding of the embryo. The prevalence of these defects stands at 1 in 14,000 live births. Body stalk anomaly is characterized by a substantial abdominal defect coupled with spine and limb anomalies, along with a very short or absent umbilical cord. We present a case of a rare abdominal defect known as body stalk anomaly, the most severe form of this spectrum of diseases...
February 29, 2024: Diagnostics
https://read.qxmd.com/read/38448023/-analysis-of-x-chromosome-inactivation-and-prenatal-diagnosis-for-a-chinese-pedigree-with-loss-of-heterozygosity-at-xq22-1q22-3
#5
JOURNAL ARTICLE
Xuejun Chen, Weiguo Zhang
OBJECTIVE: To explore the correlation between skewed X chromosome inactivation (XCI) and clinical phenotype of a Chinese pedigree with loss of heterozygosity at Xq22.1q22.3. METHODS: A pedigree diagnosed at Taizhou Hospital on November 10, 2021 was selected as the study subject. G-banded chromosomal karyotyping and copy number variation sequencing (CNV-seq) were carried out to analyze the amniotic fluid and peripheral blood samples from the couple. XCI was detected by PCR amplification of CAG repeats in exon 1 of androgen receptor gene before and after the digestion with methylation-sensitive restriction enzyme Hpa II...
March 10, 2024: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/38411327/gastroschisis-prevalence-patterns-in-27-surveillance-programs-from-24-countries-international-clearinghouse-for-birth-defects-surveillance-and-research-1980-2017
#6
JOURNAL ARTICLE
Marcia L Feldkamp, Mark A Canfield, Sergey Krikov, David Prieto-Merino, Antonin Šípek, Nathalie LeLong, Emmanuelle Amar, Anke Rissmann, Melinda Csaky-Szunyogh, Giovanna Tagliabue, Anna Pierini, Miriam Gatt, Jorieke E H Bergman, Elena Szabova, Eva Bermejo-Sánchez, David Tucker, Saeed Dastgiri, María Paz Bidondo, Aurora Canessa, Ignacio Zarante, Paula Hurtado-Villa, Laura Martinez, Osvaldo M Mutchinick, Jorge Lopez Camelo, Adriana Benavides-Lara, Mary Ann Thomas, Shiliang Liu, Wendy N Nembhard, Elizabeth B Gray, Amy E Nance, Pierpaolo Mastroiacovo, Lorenzo D Botto
BACKGROUND: Gastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate the prevalence and time trends of gastroschisis among programs in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), focusing on regional variations and maternal age changes in the population. METHODS: We analyzed data on births from 1980 to 2017 from 27 ICBDSR member programs, representing 24 countries and three regions (Europe+ (includes Iran) , Latin America, North America)...
February 2024: Birth Defects Research
https://read.qxmd.com/read/38351708/antenatal-description-of-large-4q13-2q21-23-deletion-and-outcomes
#7
JOURNAL ARTICLE
Anna-Gaëlle Giguet-Valard, Christelle Thevenin, Sophie Dreux, Valérie Decatrelle, Marie-Laure Juve, Soraya Yazza, Clara Adenet, Marion Lesueur, Patrice Bouvagnet, Michèle Gueneret
BACKGROUND: 4q21 microdeletion syndrome is an emergent non-recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech. Deletions occur in clusters along 4q interstitial or terminal regions. 4q chromosomal aberrations are variable in type, size, and breakpoint. Genotype-phenotype correlation is a challenging task. The recurrent antenatal feature associated a posteriori with this syndrome is intrauterine growth retardation...
February 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38278692/abdominal-amniotic-band-syndrome-an-unusual-location
#8
JOURNAL ARTICLE
Tomás Ros Argente Del Castillo, María Portolés Morales, Purificación Marín Reina
No abstract text is available yet for this article.
January 25, 2024: Anales de pediatría
https://read.qxmd.com/read/38262220/late-management-of-amniotic-bands-syndrome-with-incomplete-syndactyly-a-case-report-of-4-year-old-child
#9
M Almekdad Estanbouli, Abdulrazak Anadani, Hala Albobah, Tala Dakkak, Raneem Mokresh, Aladdin Etr
INTRODUCTION: Amniotic band syndrome is a fetal entrapment in strands of amniotic tissue. This condition causes multiple deformities ranging from simple constricting bands to lymphedema, autoamputation, syndactyly and other congenital anomalies. Reconstructive surgery is the main treatment for ABS. PRESENTATION OF CASE: A 4-year-old male presented with multiple constricting bands affecting both hands in addition to an incomplete syndactyly between the third and fourth left digits...
January 19, 2024: International Journal of Surgery Case Reports
https://read.qxmd.com/read/38216263/syndromic-and-single-gene-disorders-associated-with-fetal-megacystis-i-megacystis-microcolon-intestinal-hypoperistalsis-syndrome-mmihs
#10
REVIEW
Chih-Ping Chen
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome...
January 2024: Taiwanese Journal of Obstetrics & Gynecology
https://read.qxmd.com/read/38216262/chromosomal-abnormalities-associated-with-fetal-megacystis
#11
REVIEW
Chih-Ping Chen
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome...
January 2024: Taiwanese Journal of Obstetrics & Gynecology
https://read.qxmd.com/read/38201342/amniotic-band-syndrome-prenatal-diagnosis
#12
JOURNAL ARTICLE
Nicolae Gică, Livia Mihaela Apostol, Corina Gică, Iulia Huluță, Ana Maria Vayna, Anca Maria Panaitescu, Nicoleta Gana
This is a case of a fetus affected by an amniotic band detected at 20 weeks of gestation. A presumptive diagnosis was made based on the ultrasound features. The ultrasound showed an abnormally developed right lower limb and no other associated fetal abnormalities. The unilaterality of the defect decreases the chances of genetic abnormality or an early vascular insult. The postnatal examination of the newborn concluded that the prenatal diagnosis was right.
December 23, 2023: Diagnostics
https://read.qxmd.com/read/38143985/amniotic-band-syndrome-a-rare-obstetric-complication
#13
Lisley Konar, Chandrachur Konar, Vasanth Kumar
No abstract text is available yet for this article.
December 2023: Journal of Obstetrics and Gynaecology of India
https://read.qxmd.com/read/38110175/associated-anomalies-in-anophthalmia-and-microphthalmia
#14
JOURNAL ARTICLE
Claude Stoll, Beatrice Dott, Yves Alembik, Marie-Paule Roth
Infants with anophthalmia and microphthalmia (an/microphthalmia) have often other associated congenital anomalies. The reported frequency and the types of these associated anomalies vary between different studies. The purpose of this investigation was to assess the frequency and the types of associated anomalies among cases with an/microphthalmia in a geographically well defined population of northeastern France of 387,067 consecutive pregnancies from 1979 to 2007. Of the 98 infants with an/microphthalmia born during this period (prevalence at birth of 2...
December 16, 2023: European Journal of Medical Genetics
https://read.qxmd.com/read/38098681/common-pediatric-hand-anomalies
#15
REVIEW
Jacob H McCarter, Ricardo A Zeledon, Samuel H Cole, Sarah A Layon, Jenny Lee Nguyen
Upper extremity congenital anomalies in the newborn are second only to congenital heart anomalies. Some of the more commonly encountered upper extremity anomalies are trigger thumb, thumb hypoplasia, polydactyly, syndactyly, and amniotic band syndrome. While some conditions occur in isolation, others are known to commonly occur in association with syndromes. Familiarity with these conditions is important not only to provide adequate evaluation and workup of these patients but also to deliver appropriate surgical intervention and prepare parents with appropriate expectations...
November 2023: Seminars in Plastic Surgery
https://read.qxmd.com/read/37994128/-prenatal-diagnosis-and-genetic-analysis-of-three-fetuses-with-duodenal-atresia-or-stenosis
#16
JOURNAL ARTICLE
Na Chen, Wenshan Zeng, Xiaoyang Gao, Yuqin Luo
OBJECTIVE: To explore the genetic basis for three fetuses with duodenal atresia or stenosis detected by ultrasonography. METHODS: Clinical data of three fetuses identified at the Women's Hospital Affiliated to Zhejiang University School of Medicine between January 2021 and August 2022 were collected. Umbilical cord blood and amniotic fluid samples of the fetuses and peripheral blood samples of their parents were collected and subjected to G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP array) analysis...
December 10, 2023: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/37994123/-prenatal-genetic-diagnosis-of-a-case-with-ring-chromosome-13
#17
JOURNAL ARTICLE
Lu Sun, Juan Wen, Guoming Chu, Guangrui Lai, Rong He
OBJECTIVE: To carry out cyto- and molecular genetic analysis for a fetus with a ring chromosome identified through non-invasive prenatal testing (NIPT). METHODS: A pregnant woman presented at the Shengjing Hospital Affiliated to China Medical University on May 11, 2021 was selected as the study subject. Maternal peripheral blood sample was screened by NIPT, and G-banded chromosomal karyotyping was carried out on amniotic fluid and peripheral blood samples from the couple...
December 10, 2023: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/37906144/-prenatal-diagnosis-of-a-case-with-schuurs-hoeijmakers-syndrome
#18
JOURNAL ARTICLE
Lisha Su, Xiaofan Zhu, Qinghua Wu, Xiangdong Kong
OBJECTIVE: To explore the genetic basis for a fetus with multiple malformations. METHODS: Clinical data of the fetus was collected, Amniotic fluid sample of the fetus was subjected to conventional G-banded karyotyping, low-depth whole genome copy number variants detection and whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing of the fetus and its parents. RESULTS: Prenatal ultrasound scan at 21+5 gestational weeks had revealed increased nuchal thickness (9...
November 10, 2023: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/37875701/amniotic-membrane-transplantation-structural-and-biological-properties-tissue-preparation-application-and-clinical-indications
#19
REVIEW
Francis W B Sanders, Jinhai Huang, Jorge L Alió Del Barrio, Samer Hamada, Colm McAlinden
The amniotic membrane is a single epithelial layer of the placenta. It has anti-inflammatory, anti-scarring, anti-angiogenic and possibly bactericidal properties. The basement membrane of the amniotic membrane acts as a substrate to encourage healing and re-epithelialisation. It has been used in many ocular surface diseases including persistent epithelial defects (corneal or conjunctival), chemical or thermal burns, limbal stem cell deficiency, cicatrising conjunctivitis, ocular graft versus host disease, microbial keratitis, corneal perforation, bullous keratopathy, dry eye disease, corneal haze following refractive surgery and cross-linking, band keratopathy, ocular surface neoplasia, pterygium surgery, and ligneous conjunctivitis...
October 24, 2023: Eye
https://read.qxmd.com/read/37654054/amniotic-band-syndrome-with-severe-facial-cleft-a-case-report
#20
JOURNAL ARTICLE
Muhammad Irfan Rasul, Kumiko Fujiwara, Muhammad Ruslin, Ida Ayu Astuti, Mayu Takaichi, Makoto Noguchi
Cases of severe bilateral Tessier 4 cleft with unilateral Tessier 3 cleft and additional involvement of the amniotic band syndrome are rarer. This case reports a very rare case of ABS with severe facial cleft. Postoperative progress was satisfactory and the patient achieved functional recovery. The patient underwent several miner reconstructive surgeries and appropriate surgical treatment is necessary to restore the patient's social life.
August 31, 2023: Cleft Palate-craniofacial Journal
keyword
keyword
110229
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

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"

We want to hear from doctors like you!

Take a second to answer a survey question.