keyword
https://read.qxmd.com/read/32886957/multidisciplinary-approach-to-paediatric-aerodigestive-disorders-a-single-centre-longitudinal-observational-study
#101
JOURNAL ARTICLE
Amol Fuladi, Sadasivam Suresh, Rahul Thomas, Matthew Wong, Sandra Schilling, Looi Ee, Kelvin Choo, Christopher Bourke, Craig McBride, Brent I Masters, Nitin Kapur
AIM: Aerodigestive clinics (ADCs) are multidisciplinary programmes for the care of children with complex congenital or acquired conditions affecting breathing, swallowing and growth. Our objective was to describe the demographic, clinical, etiological and investigational profile of children attending the inaugural ADC at a tertiary paediatric centre in Queensland. METHODS: Children referred to the ADC at Queensland Children's Hospital from August 2018 to December 2019 were included...
December 2020: Journal of Paediatrics and Child Health
https://read.qxmd.com/read/32740267/association-of-radial-longitudinal-deficiency-and-thumb-hypoplasia-an-update-using-the-could-registry
#102
JOURNAL ARTICLE
Malka Forman, Maria F Canizares, Deborah Bohn, Michelle A James, Julie Samora, Suzanne Steinman, Lindley B Wall, Andrea S Bauer
BACKGROUND: Deficiency of the radial aspect of the forearm and hand is the most common congenital longitudinal deficiency of the upper limb. Radial longitudinal deficiency is associated with several named syndromes. The purpose of the present study was to explore patterns of radial longitudinal deficiency and thumb hypoplasia in syndromes and to examine the severity of these differences across various syndromes. METHODS: Data were collected from the Congenital Upper Limb Differences (CoULD) registry...
July 29, 2020: Journal of Bone and Joint Surgery. American Volume
https://read.qxmd.com/read/32656166/a-genetics-first-approach-revealed-monogenic-disorders-in-patients-with-arm-and-vacterl-anomalies
#103
JOURNAL ARTICLE
Romy van de Putte, Gabriel C Dworschak, Erwin Brosens, Heiko M Reutter, Carlo L M Marcelis, Rocio Acuna-Hidalgo, Nehir E Kurtas, Marloes Steehouwer, Sally L Dunwoodie, Eberhard Schmiedeke, Stefanie Märzheuser, Nicole Schwarzer, Alice S Brooks, Annelies de Klein, Cornelius E J Sloots, Dick Tibboel, Giulia Brisighelli, Anna Morandi, Maria F Bedeschi, Michael D Bates, Marc A Levitt, Alberto Peña, Ivo de Blaauw, Nel Roeleveld, Han G Brunner, Iris A L M van Rooij, Alexander Hoischen
Background: The VATER/VACTERL association (VACTERL) is defined as the non-random occurrence of the following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb anomalies. As no unequivocal candidate gene has been identified yet, patients are diagnosed phenotypically. The aims of this study were to identify patients with monogenic disorders using a genetics-first approach, and to study whether variants in candidate genes are involved in the etiology of VACTERL or the individual features of VACTERL: Anorectal malformation (ARM) or esophageal atresia with or without trachea-esophageal fistula (EA/TEF)...
2020: Frontiers in Pediatrics
https://read.qxmd.com/read/32633924/management-of-tracheoesophageal-fistula-repair-with-cardiac-dextroposition-and-right-lung-agenesis-a-case-report
#104
JOURNAL ARTICLE
Eric P Zhou, Rebecca E Lee
Tracheoesophageal fistulae (TEF) commonly occur as part of the vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal, and limb abnormalities (VACTERL) association. However, pulmonary agenesis is not typically seen with TEF. We report the anesthetic management of a TEF repair in a 33-week-old, 1.6-kg, monochorionic diamniotic twin with right lung agenesis, intrauterine growth restriction, and cardiac dextroposition. Due to the unique position of the heart, the patient periodically lost complete cardiac output during the exposure and repair of the esophagus...
July 2020: A&A Practice
https://read.qxmd.com/read/32573094/genetic-diagnoses-and-associated-anomalies-in-fetuses-prenatally-diagnosed-with-esophageal-atresia
#105
JOURNAL ARTICLE
Mersedeh Rohanizadegan, Sarah Tracy, Carolina I Galarreta, Tabitha Poorvu, Terry L Buchmiller, Lynne M Bird, Judy A Estroff, Wen-Hann Tan
Esophageal atresia (EA) is a congenital anomaly occurring in 2.3 per 10,000 live births. Due to advances in prenatal imaging, EA is more readily diagnosed, but data on the associated genetic diagnoses, other anomalies, and postnatal outcome for fetuses diagnosed prenatally with EA are scarce. We collected data from two academic medical centers (n = 61). Our data included fetuses with suspected EA on prenatal imaging that was confirmed postnatally and had at least one genetic test. In our cohort of 61 cases, 29 (49%) were born prematurely and 19% of those born alive died in the first 9 years of life...
August 2020: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/32525213/sirenomelia-mermaid-syndrome-a-case-report
#106
JOURNAL ARTICLE
Şirin Kucuk, İzzet Göker Kucuk
Sirenomelia, which is also known as mermaid syndrome and characterized by the fusion of the lower extremities, is the most severe form of caudal regression syndrome and one of the rare and lethal congenital malformations. The anomalies that might be seen in this syndrome include pelvic-sacral dysplasia, genital anomalies, bilateral pelvic renal fusion accompanied by renal dysplasia, colon atresia, unilateral umbilical artery, and imperforated anus. The incidence of sirenomelia is 0.8-1 cases in 60,000-100,000 deliveries and the male/female ratio is 2...
2020: Türk Patoloji Dergisi
https://read.qxmd.com/read/32382369/diagnosis-of-rhomboencephalosynapsis-by-mri-in-a-5-year-old-child
#107
Nathalia Tafur Gómez, William Prada Mancilla, Carlos Hernán Roa Mejía, Juan Carlos Aldana Leal
Rhombencephalosynapsis is a rare defect in the development of the cerebellum, characterized by partial or total agenesis of the vermis, with fusion of the cerebellar hemispheres in the midline. It is usually related to Gómez-López-Hernández Syndrome (cerebellar-trigeminal dermal dysplasia) and VACTERL association association (vertebral defects, vascular anomalies, anal atresia, cardiac anomalies, tracheoesophageal fistula with esophageal atresia, renal dysplasia and limb anomalies). A 5-year-old female patient with spastic cerebral palsy and hydrocephalus presented here, neuroimages documented the next features: absence of cerebellar vermis, periventricular leukomalacia, cerebellar tonsils descent and rhombencephalosynapsis...
July 2020: Radiology Case Reports
https://read.qxmd.com/read/32281290/body-stalk-anomalies-in-pig-definition-and-classification
#108
JOURNAL ARTICLE
Nieves Martín-Alguacil, Luis Avedillo
The presence of body wall closing defects (abdominoschisis and thoracoabdominoschisis) in combination with other congenital malformations was studied in the pig (Sus scrofa domesticus). After clinical examination and literature review, body wall defects with multiple congenital anomalies in eight pigs were described, and classified using anatomical and embryological criteria. Several BSA presentations were identified and classified as follows: (a) BSA Type I: fetus with spinal and UC defects, thoracoabdominoschisis, anal atresia and/or other internal organs structural defects, and structural limb defects; (b) BSA Type II: fetus with spinal and UC defects, thoracoabdominoschisis, anal atresia and/or other internal organs structural defects, and nonstructural limb defects; (c) BSA Type III: fetus with spinal and UC defects, abdominoschisis, anal atresia and/or other internal organs structural defects, and structural limb defects; and (d) BSA Type IV: fetus with spinal and UC defects, abdominoschisis, anal atresia and/or other internal organs structural defects, and nonstructural limb defects...
April 13, 2020: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/32032684/impact-of-spinal-defects-on-urinary-and-sexual-outcome-in-adults-with-anorectal-malformations-a-cross-sectional-study
#109
JOURNAL ARTICLE
Thomas Bjørsum-Meyer, Lars Lund, Peter Christensen, Marianne Skytte Jakobsen, Jon Asmussen, Niels Qvist
OBJECTIVE: To examine the impact of spinal defects on urinary function, sexual outcome and quality of life in adult patients born with anorectal malformations. MATERIALS AND METHODS: A prospective cohort study at Odense University Hospital in Denmark was conducted. From 1985 to 2000, 93 patients were found eligible for participation. Twenty-seven (29%) consented to participate. One patient refrained from clinical examinations. Patients were examined with magnetic resonance imaging, uroflowmetry and validated questionnaires on urinary function, sexual function and quality of life...
February 4, 2020: Urology
https://read.qxmd.com/read/31955475/fetal-cloacal-dysgenesis-sequence-presented-with-first-trimester-megacystis-and-associated-umbilical-cord-abnormalities
#110
Selen Gursoy Erzincan, N Cenk Sayin, Cihan Inan, Isil Uzun, Ozge Yapici Ugurlar, Fusun G Varol
Cloacal dysgenesis sequence occurs as a result of complete developmental failure of the urorectal septum. Typically, the sequence is featured by a smooth perineum, without any urethral, genital or anal openings. Its clinical manifestation differs throughout gestation. We report an interesting case of first trimester megacystis with associated umbilical cord abnormalities in a female fetus having cloacal dysgenesis sequence. This rare association reflecting high urinary pressure should first suggest urethral atresia...
March 2020: Journal of Obstetrics and Gynaecology Research
https://read.qxmd.com/read/31874535/-long-term-efficacy-analysis-of-laparoscopic-assisted-anorectoplasty-for-high-and-middle-imperforate-anus
#111
JOURNAL ARTICLE
M Yue, D Zhang, H Y Yang, J X Wang, Y Jiang, F Guo, T Xie, G F Zhang
Objective: To explore the long-term efficacy of laparoscopic-assisted anorectoplasty and conventional anorectoplasty in the treatment of children with high and middle anal atresia. Methods: A retrospective cohort study was used. Inclusion criteria: (1) children with high and middle anal atresia; (2) complicated with rectourethral or rectovesical fistula; (3) complete follow-up data. Exclusion criteria: (1) complicated with 21-trisomy; (2) cerebral palsy and other mentaldisabilities; (3) Currarino syndrome; (4) FG syndrome...
December 25, 2019: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://read.qxmd.com/read/31812176/vacterl-association-in-a-female-pig-sus-scrofa-domesticus
#112
JOURNAL ARTICLE
Nieves Martín-Alguacil, Luis Avedillo
VACTERL/VATER association is a condition defined by the presence of at least three of the following congenital malformations: vertebral defects (V), anal atresia (A), cardiac defects (C), tracheo-oesophageal fistula (TE), renal anomalies (R) and limb abnormalities (L). We describe a stillborn female piglet with cardiac anomalies, renal defects, vertebral anomalies, anal atresia and a single umbilical artery (SUA), which are the main features of VACTERL association. In addition, the piglet had a unilateral abdominal wall defect...
November 2019: Journal of Comparative Pathology
https://read.qxmd.com/read/31804144/rare-otologic-presentation-of-cat-eye-syndrome
#113
JOURNAL ARTICLE
Latifah Alamer, Shaksi Bassant, Rami Alhazmi, Musaed Alzahrani
We encountered an extremely rare case where a patient with cat eye syndrome (CES) who presented with symptoms of posterior semicircular canal dehiscence (PSCD). CES is a rare genetic disorder, resulting from duplication of chromosome 22. Patients may present with variable phenotypes, including characteristic of coloboma, heart defect, periauricular skin pit/tag, microtia, anal atresia and mildly retarded mental development in some cases. PSCD is also a disease of the inner ear, where patients present with third window signs and symptoms due to lack of bony coverage...
November 2019: Annals of Saudi Medicine
https://read.qxmd.com/read/31692853/-delayed-management-of-anorectal-malformation-with-rectouretrobulbar-fistula-a-case-study
#114
Tresor Kibangula Kasanga, Jeef Bukasa Misenga, Manix Ilunga Banza, Nathalie Dinganga Kapessa, Tshiband Mosh Bilond, Prince Muteba Katambwa, Dimitri Kanyanda Nafatalewa, Stephanne Ilunga Muka Ngala, Tshibwid Azf, Papy Mukimba Ngabunda, Didier Tshibangu Mujinga
Ano-rectale malformations (ARM) are a spectrum of heterogeneous abnormalities in the development of the rectal canal. Its incidence is usually low and it is a little higher in some developing countries. Boys are more affected than girls and rectobulbar fistula associated with atresia of the anal canal is the most frequent disorder among them. We report the case of a 10-months old infant of male sex, whose mother lived in a mining area and had been complaining of fecaluria since the birth of her child. Physical examination showed fingerprint 1 cm below the intersection of the median raphe and the bi-ischiatic line...
2019: Pan African Medical Journal
https://read.qxmd.com/read/31649776/peter-plus-syndrome-a-neurosurgeon-s-perspective
#115
Deepak Khatri, Jaskaran S Gosal, Kuntal K Das, Kamlesh S Bhaisora
Peter plus syndrome (PPS) is a rare, hereditary (autosomal recessive) disorder characterized by a mutation in the beta-1,3-galactosyltransferase-like gene (chromosome 13q12), which causes impaired glycosylation of several structural and functional proteins throughout the body. Clinical signs and symptoms of PPS are highly variable and include structural malformations affecting multiple organ systems including central nervous system. We aim to discuss a neurosurgeon's perspective to PPS in this report. A 2-year-old boy presented with congenital dysmorphic facies, bilateral central corneal opacities, delayed developmental milestones, short-stature (75cm), rhizomelia with brachydactyly, and history of surgery for anal atresia on the second day of life...
July 2019: Journal of Pediatric Neurosciences
https://read.qxmd.com/read/31626096/vacterl-association-complicated-with-multiple-airway-abnormalities-a-case-report
#116
JOURNAL ARTICLE
Lin Yang, Shu Li, Lin Zhong, Li Qiu, Liang Xie, Lina Chen
INTRODUCTION: VACTERL association is an acronym that includes vertebral anomalies (V), anal atresia (A), cardiac defects (C), tracheoesophageal fistula (TEF) or esophageal atresia (EA), renal anomalies (R), and limb defects (L). Airway anomalies have rarely been reported with VACTERL association. PATIENT CONCERNS: A 10-month-old boy who had been diagnosed with anal atresia and received surgical corrections soon after birth consulted our institution by complaining repeated cough and fever...
October 2019: Medicine (Baltimore)
https://read.qxmd.com/read/31513296/body-wall-defects-and-amniotic-band-syndrome-in-pig-sus-scrofa-domesticus
#117
JOURNAL ARTICLE
Nieves Martín-Alguacil, Luis Avedillo
The amniotic band syndrome is a congenital condition. It is characterized by the presence of fibrous amniotic bands that may entangle or entrap different foetal parts in utero, resulting in deformation, malformation or disruption. We report on a female piglet presenting amniotic band adherences in the right abdominal flank, several body wall defects (gastroschisis, abdominoschisis with omphalocele), severe scoliosis, anomalous umbilical cord with single umbilical artery, anal atresia, anomalous liver and absent gall bladder, hypoplastic genitalia, ankylosis and arthrogryposis in pelvic limbs, and bilateral patellar agenesia...
September 12, 2019: Anatomia, Histologia, Embryologia
https://read.qxmd.com/read/31499513/spectrum-of-congenital-anomalies-among-vacterl-cases-a-eurocat-population-based-study
#118
JOURNAL ARTICLE
Romy van de Putte, Iris A L M van Rooij, Carlo L M Marcelis, Michel Guo, Han G Brunner, Marie-Claude Addor, Clara Cavero-Carbonell, Carlos M Dias, Elizabeth S Draper, Larraitz Etxebarriarteun, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Jenny J Kurinczuk, Monica Lanzoni, Anna Latos-Bielenska, Karen Luyt, Mary T O'Mahony, Nicola Miller, Carmel Mullaney, Vera Nelen, Amanda J Neville, Isabelle Perthus, Anna Pierini, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Florence Rouget, Bruno Schaub, David Tucker, Diana Wellesley, Awi Wiesel, Natalya Zymak-Zakutnia, Maria Loane, Ingeborg Barisic, Hermien E K de Walle, Nel Roeleveld, Jorieke E H Bergman
BACKGROUND: The VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association is the non-random occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheo-esophageal, renal, and limb anomalies. Diagnosing VACTERL patients is difficult, as many disorders have multiple features in common with VACTERL. The aims of this study were to clearly outline component features, describe the phenotypic spectrum among the largest group of VACTERL patients thus far reported, and to identify phenotypically similar subtypes...
September 9, 2019: Pediatric Research
https://read.qxmd.com/read/31470750/interspecies-comparison-of-control-data-from-embryo-fetal-development-studies-in-sprague-dawley-rats-new-zealand-white-rabbits-and-g%C3%A3-ttingen-minipigs
#119
JOURNAL ARTICLE
France-Helene Paradis, Anne Marie Downey, Francine Beaudry, Clémentine Pinêtre, Sisse Ellemann-Laursen, Andy Makin, Katherine Hill, Pramila Singh, Judit Hargitai, Roy Forster, Robert Tavcar, Simon Authier
Species-dependent differences in relative incidence of spontaneous variations and malformations should be considered in the assessment of the translational value of reproductive and developmental safety assessments. The objective of this evaluation was to compare litter parameters and the frequency of external, visceral, and skeletal malformations and variations across species in the Sprague-Dawley rat, New Zealand White rabbit, and Göttingen minipig and to determine whether notable differences exist. Pregnant female rats (n = 824), rabbits (n = 540), and minipigs (n = 70) from vehicle control groups were included in the analysis, equating to 10,749 rat, 5,073 rabbit, and 378 pig fetuses collected at term by cesarean delivery...
August 30, 2019: International Journal of Toxicology
https://read.qxmd.com/read/31470372/vacterl-association-with-situs-inversus-totalis-a-unique-combination
#120
JOURNAL ARTICLE
Cara L Slagle, Elizabeth V Schulz, David J Annibale
BACKGROUND: VACTERL association is a sporadic, nonrandom series of congenital malformations diagnosed by the presence of three or more of the following: vertebral malformations, anal atresia, cardiac defects, tracheoesophageal fistula, renal malformations, and limb malformations. Situs inversus totalis (SIT) and esophageal malformations are rarely associated. This is the first reported case in North America of VACTERL association with SIT. IMPLICATIONS FOR PRACTICE: Respiratory distress in the term infant requires full exploration of all possible causes because the etiology may be far more complex than routinely diagnosed respiratory distress syndrome...
March 1, 2019: Neonatal Network: NN
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