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https://www.readbyqxmd.com/read/28727977/the-vanishing-twin-syndrome-two-cases-of-extreme-malformations-associated-with-vanished-twins
#1
Julia K Shinnick, Nasim Khoshnam, Sydney R Archer, Philip C Quigley, Haynes Robinson, Sarah Keene, Matthew T Santore, Sarah Hill, Binita Patel, Bahig M Shehata
Two cases of devastating fetal malformations associated with vanished monochorionic twins were identified upon review of pathology files. A 35-year-old G1P0 woman and 36-year-old G3P1 woman were both diagnosed with an intrauterine twin gestation via transvaginal ultrasound at 10 weeks. The spectrum of fetal anomalies ranged from omphalocele, bilateral upper extremity, and unilateral lower extremity hypoplasia, to craniofacial malformation with diaphragmatic hernia. On histopathologic examination, the placentas demonstrated vascular anastomoses between the surviving co-twin and the "vanished" fetal sac...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28704835/high-prevalence-of-pulmonary-hypertension-complicates-the-care-of-infants-with-omphalocele
#2
Shandee Hutson, Joanne Baerg, Douglas Deming, Shawn D St Peter, Andrew Hopper, Donna A Goff
BACKGROUND: Omphalocele is one of the most common abdominal wall defects. Many newborn infants born with omphalocele present with significant respiratory distress at birth, requiring mechanical ventilatory support, and have clinical evidence of pulmonary hypertension. Little information exists on the prevalence of and risk factors associated with pulmonary hypertension in this cohort of infants. OBJECTIVES: To describe the prevalence of and risk factors associated with pulmonary hypertension among infants with omphalocele...
July 14, 2017: Neonatology
https://www.readbyqxmd.com/read/28688895/differential-requirement-of-sufu-in-tissue-development-discovered-in-a-hypomorphic-mouse-model
#3
Maria A Hoelzl, Karin Heby-Henricson, Marco Gerling, José M Dias, Raoul V Kuiper, Cornelius Trünkle, Åsa Bergström, Johan Ericson, Rune Toftgård, Stephan Teglund
Suppressor of Fused (SUFU) is an essential negative regulator of the Hedgehog (HH) pathway and involved in GLI transcription factor regulation. Due to early embryonic lethality of Sufu(-/-) mice, investigations of SUFU's role later in development are limited to conditional, tissue-specific knockout models. In this study we developed a mouse model (Sufu(Ex456(fl)/Ex456(fl))) with hypomorphic features where embryos were viable up to E18.5, although with a spectrum of developmental defects of varying severity, including polydactyly, exencephaly and omphalocele...
July 5, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28686315/pentalogy-of-cantrell-in-a-monozygotic-twin-with-a-giant-omphalocele-firmly-attached-to-the-amniotic-membrane-successful-prenatal-diagnosis-and-cesarean-delivery
#4
Tomonobu Kanasugi, Akihiko Kikuchi, Noriyuki Uesugi, Daisuke Fukagawa, Hideyuki Chida, Yuri Sasaki, Gen Haba, Chizuko Isurugi, Rie Oyama, Tamotsu Sugai, Toru Sugiyama
No abstract text is available yet for this article.
July 7, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28652674/evolution-of-ventricular-outpouching-through-the-fetal-and-postnatal-periods-unabating-dilemma-of-serial-observation-or-surgical-correction
#5
REVIEW
Niraj Kumar Dipak, Sumitra Venkatesh, Shakuntala Prabhu, Sudha Rao
Ventricular outpouching is a rare finding in prenatal sonography and the main differential diagnoses are diverticulum, aneurysm, and pseudoaneurysm in addition to congenital cysts and clefts. The various modes of fetal presentation of congenital ventricular outpouching include an abnormal four-chamber view on fetal two-dimensional echocardiogram, fetal arrhythmia, fetal hydrops, and pericardial effusion. Left ventricular aneurysm (LVA)/nonapical diverticula are usually isolated defects. Apical diverticula are always associated with midline thoracoabdominal defects (epigastric pulsating diverticulum or large omphalocele) and other structural malformations of the heart...
July 2017: Journal of the Saudi Heart Association
https://www.readbyqxmd.com/read/28617177/discordant-anomalies-with-combined-features-of-pentalogy-of-cantrell-and-oeis-complex-a-case-report-in-monochorionic-twins
#6
Nique Kunapinun, Jitsupa Treetipsatit
INTRODUCTION: Ventral body wall defects have various manifestations. Among others, pentalogy of Cantrell (PC) and omphalocele exstrophy imperforate anus spinal abnormalities (OEIS) complex are defects that involve upper and lower anterior midline of body wall, respectively. Although both entities are in a spectrum of ventral body wall defects, the combination of PC and OEIS complex has not been described. CASE REPORT: In this report, we describe an unusual case of congenital ventral body wall defect with combined features of PC and OEIS complex, which discordantly occurred in monochorionic monoamniotic twins...
June 15, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28496996/anterior-abdominal-wall-defects-diaphragmatic-hernia-and-other-major-congenital-malformations-of-the-musculoskeletal-system-in-barbados-1993-2012
#7
Keerti Singh, Alok Kumar
This study describes the prevalence and patterns of major congenital malformations of the musculoskeletal system and the resulting morbidity and mortality. It is a retrospective population-based study over the period 1993 to 2012. The overall prevalence of major congenital malformations of the musculoskeletal system was 9.02/10,000 live births. The prevalences of omphalocele, gastroschisis, and diaphragmatic hernia were 2.53, 2.22, and 1.42 per 10,000 live births, respectively. The case fatality ratio for the omphalocele, gastroschisis, and diaphragmatic hernia was 12...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28464537/abdominal-wall-defects-in-greenland-1989-2015
#8
Merete Bugge, Gitte Drachmann, Peder Kern, Esben Budtz-Jørgensen, Hans Eiberg, Britta Olsen, Niels Tommerup, Inge-Merete Nielsen
BACKGROUND: In the last decades, an increasing rate of gastroschisis but not of omphalocele has been reported worldwide. Greenland is the world's largest island, but 80% is covered by an ice cap, it has a small population of around 56,000 peoples (as of 2016). The occurrence of abdominal wall defects has never been investigated in Greenland. METHODS: The present study is based on data retrieved from three nationwide and two local registries in the Greenlandic health care system over 27 years (1989-2015)...
May 2, 2017: Birth defects research
https://www.readbyqxmd.com/read/28410786/the-use-of-ecmo-for-gastroschisis-and-omphalocele-two-decades-of-experience
#9
Joanne E Baerg, Arul Thirumoorthi, Andrew O Hopper, Edward P Tagge
PURPOSE: The aim was to review the respiratory failure causes and outcomes of infants with omphalocele or gastroschisis receiving ECMO and reported to the Extracorporeal Life Support Organization (ELSO). METHODS: Gastroschisis and omphalocele infants supported with ECMO and reported to the ELSO Registry between 1992 and 2015 were retrospectively reviewed. Clinical variables, diagnosis of respiratory failure (pulmonary hypertension (PHN), congenital heart defects (CHD), congenital diaphragmatic hernia (CDH), and sepsis), and outcomes were recorded...
June 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28398666/association-between-a-maternal-history-of-miscarriages-and-birth-defects
#10
Hebe Campaña, Monica Rittler, Juan A Gili, Fernando A Poletta, Mariela S Pawluk, Lucas G Gimenez, Viviana R Cosentino, Eduardo E Castilla, Jorge S López Camelo
BACKGROUND: Some studies, mainly in the older literature, observed a significant association between miscarriages and birth defects (BDs) occurring in the same sibship. However, few studies examined the BD/miscarriage relationship in depth. In addition nothing has been added to the underlying mechanisms possibly linking both events. The purpose of this work was to identify specific BDs associated with maternal miscarriages. In particular, it examined whether the risk depended on the number of losses, and to suggest the existence of specific factors for each BD/miscarriage association observed...
March 1, 2017: Birth defects research
https://www.readbyqxmd.com/read/28397950/staged-closure-of-a-giant-omphalocele-with-amnion-preservation-modified-technique
#11
Akram H Aljahdali, Hussah M Al-Buainain, Erik D Skarsgard
Closure of a giant omphalocele can be challenging. Preservation of the amnion in staged closure is not commonly practiced. Here, we describe 2 cases of giant omphalocele treated with a modified amnion preservation, staged closure technique. This paper demonstrates the feasibility and safety of this technique, and the versatility of amnion to adapt to an escharization strategy if closure is not achievable.
April 2017: Saudi Medical Journal
https://www.readbyqxmd.com/read/28397377/yield-of-a-12-13-week-scan-for-the-early-diagnosis-of-fetal-congenital-anomalies-in-the-cell-free-dna-era
#12
M J A Kenkhuis, M Bakker, F Bardi, F Fontanella, M K Bakker, H Fleurke-Rozema, C M Bilardo
OBJECTIVE: Aim of the study was to assess the percentage and type of anomalies (structural and chromosomal) that can be detected at an early scan performed at 12-13 weeks' gestation, as opposed to the present screening policy (20 -week scan). METHODS: Sonographers accredited for the nuchal translucency (NT) measurement were asked, after additional training, to participate into the study. The early scans were performed according to a protocol, in six ultrasound practices and 2 referral centers in the Northeast of the Netherlands...
April 11, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28352500/delayed-closure-of-giant-omphaloceles-in-west-africa-report-of-five-cases
#13
Oumama El Ezzi, Raymond Bossou, Olivier Reinberg, Sabine Vasseur Maurer, Anthony de Buys Roessingh
Giant omphalocele (GO) management is controversial and not easy. Conservative management at birth and delayed surgical closure is usually mandatory. Postponed surgery may be challenging and carry the risk of intensive care treatment. We report on five children who were treated in our department for GO between 2000 and 2010. Initially, the patients were managed conservatively in West Africa. Delayed closure of the ventral hernia was performed in Switzerland after patient transfer through a nongovernmental organization...
January 2017: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/28289880/pediatric-morgagni-diaphragmatic-hernia-a-descriptive-study
#14
Jamie Golden, Wesley E Barry, Gene Jang, Nam Nguyen, David Bliss
INTRODUCTION: The Morgagni hernia (MH) accounts for 3-4% of congenital diaphragmatic hernias. There is a paucity of data regarding this rare defect. The purpose of this study is to describe the characteristics of children with MH, surgical approaches for repair, and patient outcomes. METHODS: Pediatric patients (ages 0-18) with a MH from 2002 to 2014 at a single, freestanding pediatric hospital were retrospectively reviewed. Patient presentation, demographics, operative methods and findings, and outcomes were evaluated...
March 13, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28271155/not-gastroschisis-or-omphalocele-or-anything-in-between-a-novel-congenital-abdominal-wall-defect
#15
Maija Cheung, Nasser Kakembo, Arlene Muzira, John Sekabira, Doruk Ozgediz
Congenital abdominal wall defects occur when normal embryonic development is interrupted and most commonly results in gastroschisis or omphalocele. Other entities, such as ruptured omphalocele, vanishing gastroschisis, and patent omphalomesenteric ducts with prolapse, have also been described and can create a confusing picture. This case of a newborn with a midline abdominal defect and a mass that was intestine-like and arose from the bowel cannot be classified, and no similar reports were found. This suggests a previously undescribed abdominal wall defect with an aberrant colonic appendage...
March 7, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28248727/interleukin-il-1-4-6-7-8-10-appearance-in-congenital-intra-abdominal-adhesions-in-children-under-1-year-of-age
#16
Anna Junga, Māra Pilmane, Zane Ābola, Olafs Volrāts
Several cytokines have been studied for their potential role in adhesion formation. Regulatory role between the cytokine pathways has not yet to be defined. This study was designed to investigate the relation between proinflammatory and anti-inflammatory cytokines in congenital intra-abdominal adhesions. Tissue samples used for research were obtained from abdominal surgery due to obstructive gut malrotation and several additional pathologies (rectal atresia without perforation, omphalocele). All tissue specimens were stained with hematoxylin and eosin and by immunohistochemistry for interleukin-1 (IL-1), IL-4, IL-6, IL-7, IL-8, and IL-10...
February 28, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28208595/congenital-malformations-in-river-buffalo-bubalus-bubalis
#17
REVIEW
Sara Albarella, Francesca Ciotola, Emanuele D'Anza, Angelo Coletta, Luigi Zicarelli, Vincenzo Peretti
The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival...
February 10, 2017: Animals: An Open Access Journal From MDPI
https://www.readbyqxmd.com/read/28203309/a-recurrent-case-of-pentalogy-of-cantrell-a-rare-case-with-sonological-findings-and-review-of-literature
#18
Srinivas M Naren Satya, Kamala Retnam Mayilvaganan, Ivvala Sai Prathyusha, Munnangi Satya Gautam, Deepthi Raidu, V N Amogh
BACKGROUND: Pentalogy of Cantrell (POC) is an extremely rare and complex congenital anomaly. Ultrasound is a valuable, safe, nonionizing, cost effective, widely available, and easily reproducible imaging tool and is indispensible in the diagnosis of POC. Despite the rarity of POC, it is imperative for a radiologist to be aware of its wide spectrum of presentation on ultrasound in first trimester of gestation. Most reported cases in literature till now have been sporadic. In this paper, we aimed to report for the first time in literature, a recurrent case of POC detected in the first trimester in a mother whose previous pregnancy also was terminated in the second trimester medically due to the ultrasound diagnosis of POC...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28196368/pericardio-amniotic-shunting-for-incomplete-pentalogy-of-cantrell
#19
Alexander C Engels, Anne Debeer, Francesca M Russo, Michael Aertsen, Katleen Aerts, Marc Miserez, Jan Deprest, Liesbeth Lewi, Roland Devlieger
A 27-year-old woman, gravida 2, para 0, presented with an incomplete Pentalogy of Cantrell with an omphalocele, diaphragmatic hernia, and a pericardial defect at 32 weeks' gestation. A large pericardial effusion compressed the lungs and had led to a reduced lung growth with an observed-to-expected total lung volume of 28% as measured by MRI. The effusion disappeared completely after the insertion of a pericardio-amniotic shunt at 33 weeks. After birth, the newborn showed no signs of pulmonary hypoplasia and underwent a surgical correction of the defect...
2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28164002/giant-omphalocele-complicated-by-postoperative-duodenal-obstruction
#20
Sunita Ojha, Shobha Parashar, Dharmil Doshi, Rajiv Kumar Bansal
Omphalocele is a congenital defect in the abdominal wall, usually treated at birth or within 1-2 years of life depending on condition of patient and size and contents of the defect. We repaired a giant omphalocele without mesh in a 9-year-old girl. She developed duodenal obstruction in the postoperative period requiring another laparotomy and duodeno-jejunostomy to bypass obstruction.
January 2017: APSP Journal of Case Reports
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