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Hirschsprung's

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https://www.readbyqxmd.com/read/29778545/a-descriptive-model-for-a-multidisciplinary-unit-for-colorectal-and-pelvic-malformations
#1
Alejandra Vilanova-Sanchez, Devin R Halleran, Carlos A Reck-Burneo, Alessandra C Gasior, Laura Weaver, Meghan Fisher, Andrea Wagner, Onnalisa Nash, Kristina Booth, Kaleigh Peters, Charae Williams, Sarah Mayer Brown, Peter Lu, Molly Fuchs, Karen Diefenbach, Jeffrey R Leonard, Geri Hewitt, Kate McCracken, Carlo Di Lorenzo, Richard J Wood, Marc A Levitt
INTRODUCTION: Patients with anorectal malformations (ARM), Hirschsprung disease (HD), and colonic motility disorders often require care from specialists across a variety of fields, including colorectal surgery, urology, gynecology, and GI motility. We sought to describe the process of creating a collaborative process for the care of these complex patients. METHODS: We developed a model of a devoted center for these conditions that includes physicians, psychologists, social workers, nurses, and advanced practice nurses...
April 19, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29764832/large-bowel-obstruction-in-a-27-year-old-woman-caused-by-a-sigmoid-faecal-bolus
#2
Radford Arran James Smith, Muhammad Abdalkoddus, Robert Bethune
A 27-year-old woman presented to the emergency department with a 24-hour history of severe left iliac fossa pain associated with vomiting. She reported a history of ovarian cysts and was provisionally diagnosed with a ruptured ovarian cyst and admitted under the obstetrics and gynaecology team for further investigation. 24 hours later, she became haemodynamically unstable with increasing abdominal distention and developed a metabolic acidosis. A CT scan revealed large bowel obstruction (LBO) secondary to a faecal bolus in the sigmoid colon with appearances suggestive of adult-onset Hirschsprung's disease...
May 14, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29764583/-syndromic-hirschsprung-prime-s-disease-and-its-mode-of-inheritance
#3
Jing-Ru Zhang, Zhi-Bo Zhang
Hirschsprung′s disease (HSCR) is one of the major causes of chronic incomplete intestinal obstruction in children. HSCR is considered a type of neurocristopathy caused by no colonization of ganglion cells on some parts of the bowel wall due to abnormal termination of the migration of vagal neural cells during embryonic development. This disease can be classified into different types according to the length of the affected intestinal canal. Most HSCR patients present with single deformity, but some HSCR patients are affected by other deformities, which constitutes syndromic HSCR, such as congenital central hypoventilation syndrome, Fryns syndrome, and cartilage-hair hypoplasia syndrome...
May 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29755106/a-rare-case-of-adult-onset-rectosigmoid-hypoganglionosis
#4
Mohammed Yousef Aldossary, Antonio Privitera, Obai Elzamzami, Nemat Alturki, Khalid Sabr
BACKGROUND Intestinal hypoganglionosis is very rare and accounts for 3% to 5% of all classified congenital intestinal innervation disorders. Isolated hypoganglionosis of the colon is a particularly rare form of the disease, and differential diagnosis includes association with Hirschsprung's disease and chronic intestinal pseudo-obstruction (CIPO) related to visceral myopathies. Most cases are diagnosed at an early age or in childhood with only a few cases reported in adults. CASE REPORT We report a case of isolated hypoganglionosis of the rectum and sigmoid presenting as an emergency with acute intestinal obstruction in a 20-year-old male patient...
May 14, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29725927/how-to-establish-a-successful-bowel-management-programme-in-children-a-tertiary-paediatric-centre-experience
#5
Ann M Costigan, Stephanie Orr, Abdulrahman E Alshafei, Brice A Antao
BACKGROUND: Bowel management is a term used to describe a medical approach to the management of faecal incontinence. AIMS: To present the outcomes of an individualised bowel management programme developed by a tertiary paediatric centre and evaluate contributory factors for successful bowel management in children. METHODS: A retrospective review of children attending a bowel management clinic in a tertiary centre in Dublin, Ireland, over 5 years (2010-2015)...
May 3, 2018: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/29703156/functional-outcomes-in-hirschsprung-disease-patients-after-transabdominal-soave-and-duhamel-procedures
#6
Amira Widyasari, Winona Alda Pravitasari, Andi Dwihantoro, Gunadi
BACKGROUND: Several pull-through procedures have been described for Hirschsprung disease (HSCR) with varying functional outcomes. The voluntary bowel movement (VBM) and the absence of soiling or constipation after pull-through remain the most important markers of good outcome. We aimed to compare the functional outcomes in HSCR patients following Soave and Duhamel procedures. METHODS: Krickenbeck classification was utilized to determine VBM, soiling and constipation for patients who underwent Soave and Duhamel pull-through at Dr...
April 27, 2018: BMC Gastroenterology
https://www.readbyqxmd.com/read/29696799/expanding-the-phenotype-of-congenital-central-hypoventilation-syndrome-impacts-management-decisions
#7
Heather M Byers, Maida Chen, Andrew S Gelfand, Bruce Ong, Marisa Jendras, Ian A Glass
Congenital central hypoventilation syndrome (CCHS) is a neurocristopathy caused by pathogenic heterozygous variants in the gene paired-like homeobox 2b (PHOX2B). It is characterized by severe infantile alveolar hypoventilation. Individuals may also have diffuse autonomic nervous system dysfunction, Hirschsprung disease and neural crest tumors. We report three individuals with CCHS due to an 8-base pair duplication in PHOX2B; c.691_698dupGGCCCGGG (p.Gly234Alafs*78) with a predominant enteral and neural crest phenotype and a relatively mild respiratory phenotype...
April 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29695640/association-of-vamp5-and-mcc-genetic-polymorphisms-with-increased-risk-of-hirschsprung-disease-susceptibility-in-southern-chinese-children
#8
Jinglu Zhao, Xiaoli Xie, Yuxiao Yao, Qiuming He, Ruizhong Zhang, Huimin Xia, Yan Zhang
Hirschsprung disease (HSCR) is a genetic disorder characterized by the absence of neural crest cells in parts of the intestine. This study aims to investigate the association of vesicle-associated membrane protein 5 ( VAMP5 ) and mutated in colorectal cancer ( MCC ) genetic polymorphisms and their correlated risks with HSCR. We examined the association in four polymorphisms (rs10206961, rs1254900 and rs14242 in VAMP5 , rs11241200 in MCC ) and HSCR susceptibility in a Southern Chinese population composed of 1473 cases and 1469 controls...
April 25, 2018: Aging
https://www.readbyqxmd.com/read/29689583/update-on-the-role-of-stem-cells-in-the-treatment-of-hirschsprung-disease
#9
Kathy Nga-Chu Lui, Paul Kwong Hang Tam, Elly Sau-Wai Ngan
Stem cells possess the ability of self-renewal and the potency to differentiate into multiple cell lineages. Somatic stem cells are present in adult tissues, but they usually exhibit limited differentiation capacity and life span. On the other hand, somatic cells from adult tissues can be reprogrammed into induced pluripotent stem cells (iPSCs) that retain a full differentiation capacity with unlimited self-renewal ability. Autologous origin of iPSCs makes them an ideal source of cells for regenerative medicine to replenish the missing or damaged cells in the patients...
April 24, 2018: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29685745/hirschsprung-s-disease-as-a-rare-cause-of-refractory-constipation-in-an-adult-patient
#10
E Alcocer-Sánchez, N Pérez Y López, J Fernández-Álvarez, A Zárate-Osorno
No abstract text is available yet for this article.
April 20, 2018: Revista de Gastroenterología de México
https://www.readbyqxmd.com/read/29682507/bacterial-microbiome-dynamics-in-post-pull-through-hirschsprung-associated-enterocolitis-haec-an-experimental-study-employing-the-endothelin-receptor-b-null-mouse-model
#11
Zhi Cheng, Lifu Zhao, Deepti Dhall, Paul M Ruegger, James Borneman, Philip K Frykman
Purpose: Hirschsprung-associated enterocolitis (HAEC) is the most frequent potentially life-threatening complication in children with Hirschsprung disease (HSCR) even after definitive corrective surgery. Mounting evidence suggests that intestinal microbiota likely contribute to the etiology of enterocolitis, so the aim of this study was to use a mouse model of post pull-through HAEC to compare the fecal bacterial communities of animals which developed HAEC to those free of enterocolitis...
2018: Frontiers in Surgery
https://www.readbyqxmd.com/read/29681704/cytomegalovirus-as-a-cause-of-colonic-stricture-simulating-hirschsprung-s-disease
#12
Chiranjiv Kumar, Meera Luthra
Colonic stenosis/atresias account for only 5%-15% of all atresias. Colonic stenosis is rarer than atresia and mostly occurs in ascending and transverse colon. Gastrointestinal sequelae of cytomegalovirus (CMV) are rare, frequently requires surgical intervention for diagnosis and management. We describe a 5-month-old female child with complaints of recurrent abdominal distension, vomiting, and constipation for 2 months simulating Hirschsprung's disease. After barium enema, the baby was taken up for surgery. Intraoperatively, we found a colonic stricture in the descending colon...
April 2018: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/29681101/a-patient-with-peripheral-demyelinating-neuropathy-central-dysmyelinating-leukodystrophy-waardenburg-syndrome-and-severe-hypoganglionosis-associated-with-a-novel-sox10-mutation
#13
Yuko Akutsu, Kentaro Shirai, Akira Takei, Yudai Goto, Tomohiro Aoyama, Akimitu Watanabe, Masatoshi Imamura, Takashi Enokizono, Tatsuyuki Ohto, Tetsuo Hori, Keiko Suzuki, Masaharu Hayashi, Kouji Masumoto, Ken Inoue
In this report, we present the case of a female infant with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) associated with a novel frameshift mutation (c.842dupT) in exon 5, the last exon of SOX10. She had severe hypoganglionosis in the small intestine and entire colon, and suffered from frequent enterocolitis. The persistence of ganglion cells made both the diagnosis and treatment difficult in the neonatal period. She also showed hypopigmentation of the irises, hair and skin, bilateral sensorineural deafness with hypoplastic inner year, severe demyelinating neuropathy with hypotonia, and diffuse brain hypomyelination...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29680278/colonic-diverticulosis-in-an-infant-a-clue-to-total-colonic-hirschsprung-disease
#14
Scott S Short, Liese C C Pruitt, Michael D Rollins
Total colonic aganglionosis is a rare phenotype of Hirschsprung disease (HD). While the diagnosis is generally established within the neonatal period there are reports of delayed presentation. In this case, we describe a 9-month old girl with no previous medical or surgical history who presented with a small bowel obstruction. A contrast enema performed as part of the work up demonstrated right sided colonic diverticula with no other anatomical abnormalities. Surgical intervention was required to manage the obstruction and colonic biopsies were consistent with HD...
March 23, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29678855/de-novo-sox10-nonsense-mutation-in-a-patient-with-kallmann-syndrome-deafness-iris-hypopigmentation-and-hyperthyroidism
#15
Fang Wang, Shaoli Zhao, Yanhong Xie, Wenjun Yang, Zhaohui Mo
Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder characterized by hypogonadotropic hypogonadism and olfactory dysfunction. Recently, mutations in SOX10, a well-known causative gene of Waardenburg syndrome (WS), have been identified in a few KS patients with additional developmental defects including hearing loss. However, the understanding of SOX10 mutation associates with KS and other clinical consequences remains fragmentary. A 30-year-old Chinese male patient presented with no pubertal sex development when he was at the age of twelve years...
March 2018: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29674606/hirschsprung-s-disease-related-giant-sigmoid-volvulus-complicated-by-refractory-hypertension-in-an-elderly-man
#16
Shaohan Wu, Xiaofang Sun, Yawei Yu, Yiyu Shen
BACKGROUND Sigmoid volvulus (SV) is a life-threatening condition occasionally seen in adults. Adult Hirschsprung's disease (HD)-related SV is rarely complicated by difficult-to-control hypertension. In this report we present the case of an elderly man with a rare constellation of HD, SV, and refractory hypertension. CASE REPORT An 82-year-old man had long-term constipation, moderate abdominal pain, and progressive abdominal distension. A CT scan revealed the typical "coffee bean sign". Blood pressure was abnormal high...
April 20, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29666241/muscularis-macrophage-development-in-the-absence-of-an-enteric-nervous-system
#17
Marina Avetisyan, Julia E Rood, Silvia Huerta Lopez, Rajarshi Sengupta, Elizabeth Wright-Jin, Joseph D Dougherty, Edward M Behrens, Robert O Heuckeroth
The nervous system of the bowel regulates the inflammatory phenotype of tissue resident muscularis macrophages (MM), and in adult mice, enteric neurons are the main local source of colony stimulating factor 1 (CSF1), a protein required for MM survival. Surprisingly, we find that during development MM colonize the bowel before enteric neurons. This calls into question the requirement for neuron-derived CSF1 for MM colonization of the bowel. To determine if intestinal innervation is required for MM development, we analyzed MM of neonatal Ret -/- ( Ret KO) mice that have no enteric nervous system in small bowel or colon...
May 1, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29652729/anorectal-manometry-may-reduce-the-number-of-rectal-suction-biopsy-procedures-needed-to-diagnose-hirschsprung-s-disease
#18
Rob J Meinds, Monika Trzpis, Paul M A Broens
OBJECTIVES: To evaluate whether anorectal manometry (ARM), which is used to test the rectoanal inhibitory reflex (RAIR), is a safe alternative for reducing the number of invasive rectal suction biopsy (RSB) procedures needed to diagnose Hirschsprung's disease (HD). METHODS: Between 2010 and 2017, we prospectively collected the ARM results of 105 patients suspected of having HD. Following the outcome, the patients either underwent additional tests to confirm HD or they were treated conservatively...
April 12, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29652728/intestinal-microbiota-in-hirschsprung-disease
#19
Malla I Neuvonen, Katri Korpela, Kristiina Kyrklund, Risto J Rintala, Mikko P Pakarinen
OBJECTIVES: To characterize the microbiota profiles of patients with Hirschsprung's disease (HD), and to evaluate this in relation to postoperative bowel function and the incidence of Hirschsprung-associated enterocolitis (HAEC). METHODS: All patients operated on for HD at our center between 1987-2011 were invited to answer questionnaires on bowel function and to participate in a clinical follow-up for laboratory investigations, including fecal DNA extraction, fecal calprotectin (FC), and brush border lactase (LCT) genotyping...
April 12, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29626357/aberrant-expression-of-lncrna-mir31hg-regulates-cell-migration-and-proliferation-by-affecting-mir-31-and-mir-31-in-hirschsprung-s-disease
#20
Peng Cai, Hongxing Li, Weiwei Huo, Hairong Zhu, Chao Xu, Rujin Zang, Wei Lv, Yankai Xia, Weibing Tang
Hirschsprung's disease (HSCR) is a birth defect that causes a failure of the enteric nervous system to cover the distal gut during early embryonic development. Evidence shows that long non-coding RNAs (lncRNA) play important roles in HSCR. The MIR31 host gene (MIR31HG), also known as Loc554202, is a long non-coding RNA (lncRNA), which acts as the host gene of (microRNA) miR-31 and miR-31*. There have been no studies regarding its function in early developmental defects during pregnancy, and its downstream genetic receptors...
April 6, 2018: Journal of Cellular Biochemistry
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