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Imperforate anus

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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
#1
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...
May 8, 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
#2
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...
May 8, 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
#3
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
#4
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-progenitors%C3%A2-cells
#5
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...
March 27, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28352637/neurostimulation-for-fecal-incontinence-after-correction-of-repair-of-imperforate-anus
#6
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
#7
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
https://www.readbyqxmd.com/read/28286566/gastrointestinal-manifestations-of-mitochondrial-disorders-a-systematic-review
#8
REVIEW
Josef Finsterer, Marlies Frank
Mitochondrial disorders (MIDs) due to respiratory-chain defects or nonrespiratory chain defects are usually multisystem conditions [mitochondrial multiorgan disorder syndrome (MIMODS)] affecting the central nervous system (CNS), peripheral nervous system, eyes, ears, endocrine organs, heart, kidneys, bone marrow, lungs, arteries, and also the intestinal tract. Frequent gastrointestinal (GI) manifestations of MIDs include poor appetite, gastroesophageal sphincter dysfunction, constipation, dysphagia, vomiting, gastroparesis, GI pseudo-obstruction, diarrhea, or pancreatitis and hepatopathy...
January 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/28276295/complete-bilateral-agenesis-of-the-diaphragm
#9
Mudher Al-Adnani, Andreas Marnerides
Bilateral agenesis of the diaphragm is a very rare congenital diaphragmatic defect. Bilateral congenital diaphragmatic hernia (CDH) is much more frequently associated with other anomalies compared with unilateral CDH (70% vs 30%-40%). These include cardiovascular, respiratory (other than lung hypoplasia), gastrointestinal, renal, and genital malformations. We report a case of complete bilateral agenesis of the diaphragm associated with a horseshoe kidney and an imperforate anus. These additional malformations have not previously been reported in association with complete bilateral agenesis of the diaphragm...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28237945/rare-association-of-congenital-penile-urethrocutaneous-fistula-with-y-type-urethral-duplication
#10
Ashok Kumar Gupta, Manoj Kumar, Kawaljit Singh, Ashok Kumar Sokhal
A 24-year-old man presented with symptoms of difficulty in passage of urine, mixed with gas and stool from penoscrotal junction since birth. He had a history of surgery (posterior sagittal anorectoplasty) for imperforate anus in first week of his life. On physical examination, external meatus was adequate with small 5×5 mm fistulous opening noted at penoscrotal junction with normal anal tone and opening. On evaluation with retrograde urethrography, voiding cystourethrogram, cystoscopy and barium enema, he was found to have penile urethrocutaneous fistula of 0...
February 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28179633/band-like-calcification-with-simplified-gyration-and-polymicrogyria-report-of-10-new-families-and-identification-of-five-novel-ocln-mutations
#11
Mohamed S Abdel-Hamid, Ghada M H Abdel-Salam, Mahmoud Y Issa, Bayoumi A Emam, Maha S Zaki
Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is an extremely rare autosomal recessive disorder with distinctive clinical and neuroimaging findings. To date, only 17 patients from 9 unrelated families with BLC-PMG have been reported worldwide. Herein, we describe a series of 13 new patients derived from 10 unrelated Egyptian families. Patients presented at early life with the classic phenotype including severe microcephaly, failure to acquire developmental skills, growth failure and the distinguished calcification patterns involving the cortex, thalami, basal ganglia and pons...
April 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28127784/changes-in-the-distance-between-the-distal-rectal-pouch-and-perineum-from-the-birth-day-to-the-next-day-in-neonates-with-an-imperforate-anus
#12
Takahiro Hosokawa, Yoshitake Yamada, Yumiko Sato, Yutaka Tanami, Yujiro Tanaka, Hiroshi Kawashima, Eiji Oguma
OBJECTIVES: To evaluate changes in the distance between the distal rectal pouch and the perineum (pouch-perineum distance) from the birth day to the next day and to determine which day is better for diagnosis of a low-type imperforate anus in neonates. METHODS: We reviewed medical records at our hospital from May 2003 to August 2015 and identified 9 neonates with a radiographically and surgically proven low-type imperforate anus and 9 with high/intermediate types of imperforate anus who had undergone sonography on both the birth day and the next day before the first surgical treatment...
January 27, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28087137/nos-interacting-protein-nosip-is-increased-in-the-colon-of-patients-with-hirschsprung-s-disease
#13
Anne-Marie O'Donnell, David Coyle, Prem Puri
PURPOSE: Voltage-dependent K(+) channels (Kv channels) participate in electrical rhythmicity and smooth muscle responses and are regulated by excitatory and inhibitory neurotransmitters. Kv channels also participate in the interstitial cell of Cajal (ICC) and smooth muscle cell (SMC) responses to neural inputs. The Kv family consists of 12 subfamilies, Kv1-Kv12, with five members of the Kv7 family identified to date: Kv7.1-Kv7.5. A recent study identified the potassium channel Kv7.5 as having a role in the excitability of ICC-IM in the mouse colon...
January 3, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28070723/anorectal-malformations-definitive-surgery-during-adulthood
#14
M P J Lopez, V I Encila, S G Alamo, H J Monroy Iii, M F T Roxas
BACKGROUND: Anorectal malformations (ARMs) are rarely seen in adults, since majority of cases are corrected in infancy or childhood. The aim of this study was to describe the profile of patients who underwent definitive surgery to correct their ARM in adulthood, and to discuss the outcomes of surgery (morbidity, mortality, and function). METHODS: This retrospective study included patients 18 years old and above, managed surgically by the Division of Colorectal Surgery at the Philippine General Hospital, University of the Philippines, Manila, from January 1, 2004, to December 31, 2012...
January 9, 2017: Techniques in Coloproctology
https://www.readbyqxmd.com/read/28054444/heterozygous-pathogenic-variant-in-dact1-causes-an-autosomal-dominant-syndrome-with-features-overlapping-townes-brocks-syndrome
#15
Bryn D Webb, Sanjeeva Metikala, Patricia G Wheeler, Mingma D Sherpa, Sander M Houten, Marko E Horb, Eric E Schadt
A heterozygous nonsense variant was identified in dapper, antagonist of beta-catenin, 1 (DACT1) via whole-exome sequencing in family members with imperforate anus, structural renal abnormalities, genitourinary anomalies, and/or ear anomalies. The DACT1 c.1256G>A;p.Trp419(*) variant segregated appropriately in the family consistent with an autosomal dominant mode of inheritance. DACT1 is a member of the Wnt-signaling pathway, and mice homozygous for null alleles display multiple congenital anomalies including absent anus with blind-ending colon and genitourinary malformations...
April 2017: Human Mutation
https://www.readbyqxmd.com/read/27916369/expression-of-connexin-26-and-connexin-43-is-reduced-in-hirschsprung-s-disease
#16
David Coyle, Brian Doyle, Justin M Murphy, Anne Marie O'Donnell, John Gillick, Prem Puri
BACKGROUND: Despite having an optimal pull-through operation, some children with Hirschsprung's disease (HSCR) continue to experience persistent bowel symptoms. Coordinated colonic electrical activity depends on intercellular communication between the enteric nerves, interstitial cells of Cajal (ICCs), smooth muscle cells, and fibroblast-like (platelet-derived growth factor receptor-alpha-positive) cells. Gap junctions are low-resistance channels composed of connexin (Cx) proteins which couple cells electrically and chemically...
November 2016: Journal of Surgical Research
https://www.readbyqxmd.com/read/27896167/imperforate-anus-with-jejunal-atresia-complicated-by-intestinal-volvulus-a-case-report
#17
Hae Soo Joung, Alexandra Leon Guerrero, Sandra Tomita, Keith A Kuenzler
Anorectal malformations (ARMs) commonly co-occur with other congenital anomalies, particularly VACTERL (vertebral, anorectal, cardiac, tracheal, esophageal, renal, limb, and duodenal) associations. However, this collection of associations is not comprehensive, and other concurrent anomalies may exist that can be missed during the standard work-up of patients with ARMs. We present a rare case of a neonate with a low ARM with concurrent jejuno-ileal atresia that was diagnosed after the correction of the ARM when the patient developed segmental volvulus...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27896155/colonic-atresia-association-with-other-anomalies
#18
Khaled M El-Asmar, Mohammed Abdel-Latif, Abdel-Hamid A El-Kassaby, Mohamed H Soliman, Mosad M El-Behery
BACKGROUND: Colonic atresia (CA) is a rare form of congenital intestinal atresia. Although CA may be isolated, it is more commonly reported in literature in association with other congenital anomalies. MATERIALS AND METHODS: This study is a review of prospectively collected data of all the patients with colonic atresia presented to our center (Ain Shams University) during 2008 to 2016. RESULTS: Twelve patients were enrolled in this study. The atresia was of type I in one case, type II in four cases, type IIIa in six cases, type IV in one case...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27887934/currarino-syndrome-in-a-fetus-infant-child-and-adolescent-spectrum%C3%A2-of-clinical-presentations-and-imaging-findings
#19
REVIEW
Pablo Caro-Domínguez, Juan Bass, Julie Hurteau-Miller
In 1981, Currarino et al described a triad of findings that consist of partial sacral dysgenesis, presacral mass (anterior meningocele, enteric cyst, or presacral teratoma) and anorectal malformation. Currarino syndrome exhibits variable expressivity and the clinical presentation tends to vary with the age of the subject such as spinal anomaly detected in the fetus, imperforate anus in the newborn, and intractable constipation or neurologic symptoms in the infant and older child. At any age, meningitis can be the presenting symptom and imaging is required for proper investigation...
February 2017: Canadian Association of Radiologists Journal, Journal L'Association Canadienne des Radiologistes
https://www.readbyqxmd.com/read/27749617/pygopagus-conjoined-twins-a-neurophysiologic-intraoperative-monitoring-schema
#20
Barrett P Cromeens, Jennifer L McKinney, Jeffrey R Leonard, Lance S Governale, Judy L Brown, Christina M Henry, Marc A Levitt, Richard J Wood, Gail E Besner, Monica P Islam
Conjoined twins occur in up to 1 in 50,000 live births with approximately 18% joined in a pygopagus configuration at the buttocks. Twins with this configuration display symptoms and carry surgical risks during separation related to the extent of their connection which can include anorectal, genitourinary, vertebral, and neural structures. Neurophysiologic intraoperative monitoring for these cases has been discussed in the literature with variable utility. The authors present a case of pygopagus twins with fused spinal cords and imperforate anus where the use of neurophysiologic intraoperative monitoring significantly impacted surgical decision-making in division of these critical structures...
March 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
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