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Imperforate anus

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https://www.readbyqxmd.com/read/28904925/a-rare-case-of-transvesical-cesarean-section
#1
Sunil Kumar Juneja, Pooja Tandon, Bakul Kochhar, Harman Deep Singh, Bhanupriya Sharma
Cesarean section, also commonly known as C-section, is a surgical procedure in which incision is made through a mother's abdomen and uterus to deliver one or more babies. According to urgency, they are classified either as elective or emergency. According to technique, they have been classified as classical, lower uterine segment and cesarean hysterectomy. Intentional transvesical cesarean though not a routinely practiced technique is used for delivery in women born with imperforate anus, ectopic intravaginal urethra, vaginal and urethral strictures, and bladder adherent completely over the uterus...
July 2017: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/28892921/a-rare-case-of-genital-malformation-with-omphalocele-exstrophy-of-bladder-imperforate-anus-and-spinal-defect-complex-autopsy-findings
#2
K Mamatha, B R Yelikar, Varsha R Deshpande, B S Disha
Omphalocele, Exstrophy of cloaca, Imperforate anus and Spinal defects (OEIS) is a severe manifestation of exstrophy-epispadias sequence with a combination of defects including OEIS. It results from improper closure of anterior abdominal wall and defective development of cloaca and urogenital septum due to defect in blastogenesis during the 4(th) week of gestation. Identification of this complex is important through foetal autopsy as this condition can recur in siblings. Prenatal diagnosis also helps to prevent foetal death with appropriate management in the less severe cases...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28840291/augmented-pressure-distal-colostogram-the-most-important-diagnostic-tool-for-planning-definitive-surgical-repair-of-anorectal-malformations-in-boys
#3
Steven J Kraus, Marc A Levitt, Alberto Peña
There is little current literature on the augmented-pressure distal colostogram, the single most important diagnostic study performed in boys with imperforate anus prior to definitive repair. Accurate understanding of the anatomy of the anorectal malformation including an associated fistulous communication between the rectum and the urogenital tract is essential for optimal surgical management. Specifically, the position of the rectal pouch and recto-urinary fistula relative to posterior sagittal structures of the perineum, especially the sacral spine, dictates the operative approach...
August 24, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#4
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28810634/misdiagnosis-of-a-cloacal-exstrophy-variant-as-urorectal-septum-malformation-in-a-fetus-by-ultrasound-a-case-report
#5
Yang-Qing Xu, Xiao-Hong Yang, Xin-Lin Chen, Xiu-Qiin Ji, Sheng Zhao
Cloacal exstrophy variants are comprised of a wide range of characteristics, of which there are four primary features, including omphalocele, bladder exstrophy, an imperforate anus and spina bifida. The existing literature regarding the differential diagnosis from alternative urinary diseases prenatally are limited. If the bladder is present, defects in the ventral wall may not be visualized with prenatal ultrasound in certain conditions, including oligohydramnios, and differential diagnosis from urorectal septum malformation sequence is a challenge...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28709660/effect-of-gastrointestinal-malformations-on-the-outcomes-of-patients-with-congenital-heart-disease
#6
Carlos M Mery, Luis E De León, J Rubén Rodriguez, R Michael Nieto, Wei Zhang, Iki Adachi, Jeffrey S Heinle, Lauren C Kane, E Dean McKenzie, Charles D Fraser
BACKGROUND: The goal of this study was to assess the effect of associated gastrointestinal malformations (GI) on the outcomes of patients undergoing congenital heart operations. METHODS: Neonates and infants with thoracic (esophageal atresia, tracheoesophageal fistula) and abdominal (duodenal stenosis/atresia, imperforate anus, Hirschsprung disease) GI malformations undergoing congenital heart operations between 1995 and 2015 were included. Two control groups were created, one for each group...
July 11, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28707775/giant-fetal-hydrometrocolpos-associated-with-cloacal-anomaly-causing-postnatal-respiratory-distress
#7
Tatsuhito Kanda, Takashi Iizuka, Rena Yamazaki, Junpei Iwadare, Masanori Ono, Hiroshi Fujiwara
Persistent cloaca is a rare presentation wherein the urethra, vagina, and rectum converge into a common channel with a single perineal opening. Fetal hydrometrocolpos can result if fluid accumulates behind an obstruction of this common channel. A 29-year-old woman (G4P1021) was referred at 36 2/7 weeks of gestation for evaluation of a fetal abdominal cystic mass. Detailed ultrasonography and magnetic resonance imaging showed two symmetric cystic masses, bilateral hydronephrosis, and oligohydramnios. Elective cesarean delivery was performed at 37 0/7 weeks; the baby weighed 4043 g with Apgar scores of 5 and 6 at 1 and 5 min...
July 14, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28690994/delayed-diagnosis-of-22q11-deletion-syndrome-due-to-late-onset-hypocalcemia-in-a-11-year-old-girl-with-imperforated-anus
#8
Dong-Yoon Yoo, Hae Jung Kim, Kee Hyun Cho, Eun Byul Kwon, Eun-Gyong Yoo
Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of 22q11DS can be delayed in children without classic symptoms. We report the case of a girl with the history of imperforate anus but without neonatal hypocalcemia or major cardiac anomaly, who was diagnosed for 22q11DS at the age of 11 after the onset of overt hypocalcemia. She was born uneventfully from phenotypically normal Korean parents...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28617177/discordant-anomalies-with-combined-features-of-pentalogy-of-cantrell-and-oeis-complex-a-case-report-in-monochorionic-twins
#9
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/28616723/post-operative-strictures-in-anorectal-malformation-trends-over-15%C3%A2-years
#10
Charlotte Holbrook, Devesh Misra, Indre Zaparackaite, Stewart Cleeve
AIM: For decades, paediatric surgeons have employed the standard posterior sagittal anorectoplasty (PSARP) approach to deal with patients with anorectal malformations (ARM). In recent years, we noted an apparent increase in the incidence of anal stricture after surgical repair of ARM following the introduction of laparoscopic pull-through and techniques aiming to preserve the internal sphincter-the internal sphincter sparing approach (ISSA). We decided to analyse our data to find out if these new trends had added to the problem of post-operative strictures...
August 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28582959/supernumerary-nostril-two-years-follow-up
#11
Amir Labib, Ahmed Elshahat
Supernumerary nostril is a very rare congenital anomaly of the nose. Since the first patient reported by Lindsay in 1906, few number of patients were reported in the literature. Various types had been described with different surgical modalities for correction. It can be isolated or associated with other malformations such as facial cleft, esophageal atresia, and imperforate anus. Most of the patients are unilateral, but it may be bilateral. It may have a communication with a normal nasal cavity or not.In this study, the authors present a case of a 1-year-old male with a positive perinatal history of teratogen exposure had isolated supernumerary left nostril with communication to the nasal cavity...
June 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28579975/the-eight-and-a-half-year-journey-of-undiagnosed-ad-gene-sequencing-and-funding-of-advanced-genetic-testing-has-led-to-hope-and-new-beginnings
#12
Illana Gozes, Marc C Patterson, Anke Van Dijck, R Frank Kooy, Joseph N Peeden, Jacob A Eichenberger, Angela Zawacki-Downing, Sandra Bedrosian-Sermone
BACKGROUND: Activity-dependent neuroprotective protein (ADNP) is one of the most prevalent de novo mutated genes in syndromic autism spectrum disorders, driving a general interest in the gene and the syndrome. AIM: The aim of this study was to provide a detailed developmental case study of ADNP p.Tyr719* mutation toward improvements in (1) diagnostic procedures, (2) phenotypic scope, and (3) interventions. METHODS: Longitudinal clinical and parental reports...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28577551/clinical-diagnostic-exome-evaluation-for-an-infant-with-a-lethal-disorder-genetic-diagnosis-of-tarp-syndrome-and-expansion-of-the-phenotype-in-a-patient-with-a-newly-reported-rbm10-alteration
#13
Zöe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang, Carolyn Jones
BACKGROUND: Diagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions. CASE PRESENTATION: We report a male infant born with multiple anomalies including bilateral dysplastic kidneys, cleft palate, bilateral talipes, and bilateral absence of thumbs and first toes. Prenatal testing including chromosome analysis and microarray did not identify a cause for the multiple congenital anomalies. Postnatal diagnostic exome studies (DES) were utilized to find a molecular diagnosis for the patient...
June 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28480580/sonography-for-an-imperforate-anus-approach-timing-of-the-examination-and-evaluation-of-the-type-of-imperforate-anus-and-associated-anomalies
#14
REVIEW
Takahiro Hosokawa, Yoshitake Yamada, Yutaka Tanami, Shinya Hattori, Yumiko Sato, Yujiro Tanaka, Hiroshi Kawashima, Mayumi Hsokawa, Eiji Oguma
This systematic review outlines the role of sonography in an imperforate anus. The diagnostic performance for type of imperforate anus is superior on the day after birth than that on the day of birth by using the pouch-perineum distance. Three approaches can be used (suprapubic, infracoccygeal, and perineal). The pouch-perineum distance, fistula location, and relationship between the puborectalis muscle and distal rectal pouch are useful for classifying the type of imperforate anus. However, the pouch-perineum distance measured has an overlap between the low and high/intermediate types of imperforate anus...
September 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28480562/diagnostic-accuracy-of-sonography-for-detection-of-a-fistula-on-the-birth-day-in-neonates-with-an-imperforate-anus-comparison-of-diagnostic-performance-between-suprapubic-and-perineal-approaches
#15
Takahiro Hosokawa, Yoshitake Yamada, Yutaka Tanami, Shinya Hattori, Yumiko Sato, Yujiro Tanaka, Hiroshi Kawashima, Mayumi Hosokawa, Eiji Oguma
OBJECTIVES: To evaluate the diagnostic accuracy of sonography for detection of an internal fistula on the birth day in neonates with an imperforate anus and to compare the diagnostic performance between the suprapubic and perineal approaches. METHODS: We included 46 neonates with an imperforate anus (29 low type and 17 intermediate/high type) who underwent sonography by both the suprapubic and perineal approaches on the birth day. Thirty-nine neonates had internal fistulas, and 12 did not, as surgically proven...
October 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28410262/life-saving-esophageal-intubation-in-neonate-with-undiagnosed-tracheal-agenesis-a-case-report
#16
Christopher Sattler, Franklin Chiao, David Stein, Denise Murphy
A 3-day-old, 2.2-kg former 34-week premature infant with imperforate anus required loop ileostomy surgery. At delivery, the child had respiratory distress. Endotracheal intubation was "confirmed" by detection of exhaled carbon dioxide with a Pedi-Cap (Covidien, Dublin, Ireland) and subsequent chest x-ray. On arrival to the operating room, the pulse oximeter reading was 100% despite a large leak around the endotracheal tube and high-airway pressures. Packing the throat reduced the leak and increased the tidal volume...
April 13, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28407270/comparison-of-diagnostic-accuracy-for-the-low-type-imperforate-anus-between-prone-cross-table-radiography-and-sonography
#17
Takahiro Hosokawa, Mayumi Hosokawa, Yutaka Tanami, Shinya Hattori, Yumiko Sato, Yujiro Tanaka, Hiroshi Kawashima, Eiji Oguma, Yoshitake Yamada
OBJECTIVES: To compare the diagnostic accuracy for the low-type imperforate anus between prone cross-table radiography and sonography. METHODS: We included 20 neonates with imperforate anus: 13 with a surgically proven low type and 7 with an intermediate or high type. The distance between the distal rectal pouch and the perineum (pouch-perineum distance) was measured by both sonography and prone cross-table radiography. A previously established pouch-perineum distance of 10 mm was used as the cutoff for diagnosis of a low-type imperforate anus...
April 13, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28359679/activation-of-wnt-signaling-increases-numbers-of-enteric-neurons-derived-from-neonatal-mouse-and-human-progenitor%C3%A2-cells
#18
Ying Zhang, Karin Seid, Florian Obermayr, Lothar Just, Peter H Neckel
BACKGROUND & AIMS: Neural stem and progenitor cells from the enteric nervous system (ENS) might serve as a source of cells for treatment of neurogastrointestinal disorders. Before we can use these cells, we must increase our understanding of the signaling mechanisms that regulate proliferation and differentiation. We systematically evaluated the effects of canonical Wnt signaling on proliferation and differentiation of cultured ENS progenitor cells from neonatal mice and humans. METHODS: We isolated ENS progenitors from tunica muscularis of the small intestine of newborn (postnatal day 0) wild-type C57BL/6 mice as well as from Wnt1-Cre2 reporter mice...
July 2017: Gastroenterology
https://www.readbyqxmd.com/read/28352637/neurostimulation-for-fecal-incontinence-after-correction-of-repair-of-imperforate-anus
#19
Alexandre Bougie, Nathalie McFadden, Sandeep Mayer, Michel Lebel, Ghislain Devroede
We are reporting the case of a 32-year-old female who had suffered from fecal incontinence (FI). She was born with an imperforate anus and a recto-vaginal fistula; she underwent repair at 6 mo of age. At 29 years of age, she was still fecally incontinent despite extensive pelvic floor reeducation. A magnetic resonance imaging and an anal electromyography were performed. Because her symptoms were considered to be probably due to extra-sphincteric implantation of the neo-anus, a redo was performed of the recto-neo-anal intra-sphincteric anastomosis...
March 16, 2017: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/28352016/associated-anomalies-and-clinical-outcome-in-children-with-ectopic-kidney
#20
Cagla Serpil Dogan, Mustafa Erman Dorterler, Mustafa Devran Aybar, Halil Ciftci, Mehmet Gulum, Yigit Akin, Ercan Yeni
Urological anomalies can be seen in children with renal ectopia (RE) and can result in renal impairment. Therefore, we evaluated associated anomalies and renal outcome in our patients with RE. Sixty-eight children who were diagnosed with RE between January 2009-May 2014 were retrospectively studied. A total of 68 patients, 36 (52.9%) boys, with a median age of 67 months (4-201) and a median follow-up period of 14 months (3-113) were included in the study. Simple RE (S-RE) was found in 51 (75%) patients, of which 46 were unilateral and five were bilateral (discoid kidney)...
March 2017: Saudi Journal of Kidney Diseases and Transplantation
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