4,999 results match your criteria Hirschsprung Disease


Negative Association Between lncRNA rs3807598 C>G and Hirschsprung Disease.

Pharmgenomics Pers Med 2020 6;13:151-156. Epub 2020 May 6.

Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, People's Republic of China.

Background: Hirschsprung disease (HSCR) is a congenital disease that arises from defective intestinal neural system. LncRNA is a critical gene in various diseases, including HSCR. No epidemiological studies have explored the correlation between lncRNA single nucleotide polymorphisms (SNPs) and HSCR risk. Read More

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http://dx.doi.org/10.2147/PGPM.S249649DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212771PMC

Induced pluripotent stem cell-derived enteric neural crest cells repopulate human aganglionic tissue-engineered intestine to form key components of the enteric nervous system.

J Tissue Eng 2020 Jan-Dec;11:2041731420905701. Epub 2020 Apr 27.

Developmental Biology and Regenerative Medicine Program, The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, CA, USA.

Models for enteric neuropathies, in which intestinal nerves are absent or injured, are required to evaluate possible cell therapies. However, existing options, including transgenic mice, are variable and fragile. Here immunocompromised mice were implanted with human pluripotent stem cell-derived tissue-engineered small intestine 10 weeks prior to a second survival surgery in which enteric nervous system precursor cells, or saline controls, were injected into the human intestinal organoid-derived tissue-engineered small intestine and analyzed 4 weeks later. Read More

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http://dx.doi.org/10.1177/2041731420905701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7225796PMC

Wernicke`s encephalopathy manifesting with diplopia after ileojejunostomy: report of a pediatric case with Hirschsprung disease.

Turk J Pediatr 2020 ;62(2):310-314

Departments of Pediatric Neurology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.

Background: Wernicke`s encephalopathy (WE) is a coenzyme-induced disease with acute neuropsychiatric symptoms leading to high mortality and morbidity due to thiamine deficiency. WE is mostly caused by alcoholism in adult populations; however, it is often associated with gastrointestinal surgical procedures, recurrent vomiting, chronic diarrhea, cancer and chemotherapy treatment, systemic diseases, drugs, magnesium deficiency, and malnutrition in children. Although these predisposing factors are considered to be uncommon in children, they are actually highly frequent and can be fatal if not treated promptly. Read More

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http://dx.doi.org/10.24953/turkjped.2020.02.019DOI Listing
January 2020

Common variants of NRG1 and ITGB4 confer risk of Hirschsprung disease in Han Chinese population.

J Pediatr Surg 2020 Apr 21. Epub 2020 Apr 21.

Department of Pediatric Surgery, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China; Shanghai Institute of Pediatric Research, Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai 200092, China. Electronic address:

Background: Hirschsprung disease (HSCR) is a neurodevelopmental disorder with a strong genetic component. Common variants of NRG1 contributed to HSCR risk in Asians, and rare variants of ERBB2 and ITGB4 were found to be associated with HSCR. ERBB2 and ITGB4 are partners of Nrg1/ErbB pathway, which is important in HSCR pathogenesis. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2020.04.008DOI Listing

Pan-enteric neuropathy and dysmotility are present in a mouse model of short-segment Hirschsprung disease and may contribute to post-pullthrough morbidity.

J Pediatr Surg 2020 Apr 17. Epub 2020 Apr 17.

Department of Pediatric Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA. Electronic address:

Purpose: Hirschsprung disease (HSCR) is characterized by distal intestinal aganglionosis. While surgery is lifesaving, gastrointestinal (GI) motility disorders persist in many patients. Our objective was to determine whether enteric nervous system (ENS) abnormalities exist in the ganglionated portions of the GI tract far proximal to the aganglionic region and whether these are associated with GI dysmotility. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2020.04.002DOI Listing
April 2020
1.311 Impact Factor

Parental self-efficacy and health-related outcomes among children with Hirschsprung disease: A cross-sectional study.

J Pediatr Nurs 2020 May 10. Epub 2020 May 10.

Department of Pediatric Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China. Electronic address:

Purpose: Little attention has been put to parental self-efficacy (PSE) on the home care management and its impact on the health-related outcome in children with Hirschsprung disease (HD) after surgery. The purpose of this study was to investigate the association between PSE and post-operative outcome and quality of life (QoL) in children with HD.

Design And Methods: This study adopted a cross-sectional study design. Read More

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http://dx.doi.org/10.1016/j.pedn.2020.03.015DOI Listing

Clinical features and management of post-necrotizing enterocolitis strictures in infants: A multicentre retrospective study.

Medicine (Baltimore) 2020 May;99(19):e20209

Department of Neonatal Surgery Ministry of Education Key Laboratory of Child Development and Disorders National Clinical Research Center for Child Health and Disorders (Chongqing) China International Science and Technology Cooperation base of Child development and Critical Disorders Chongqing Key Laboratory of Pediatrics.

To explore the clinical features and management of post-necrotizing enterocolitis strictures.Clinical data from 158 patients with post-necrotizing enterocolitis strictures were summarized retrospectively in 4 academic pediatric surgical centers between April 2014 and January 2019. All patients were treated conservatively in the internal medicine department. Read More

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http://dx.doi.org/10.1097/MD.0000000000020209DOI Listing

A Pilot Study of Non-invasive Sacral Nerve Stimulation in Treatment of Constipation in Childhood and Adolescence.

Front Pediatr 2020 16;8:169. Epub 2020 Apr 16.

Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Department of Surgery, Section Pediatric Surgery, University Hospital Erlangen, Erlangen, Germany.

Constipation shows both, a high prevalence and a significant impact. However, it is often perceived as minor and treatment choices are limited. The neuromodulation approach is a valuable option to be considered. Read More

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http://dx.doi.org/10.3389/fped.2020.00169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7176809PMC

miR-618 rs2682818 C>A polymorphism decreases Hirschsprung disease risk in Chinese children.

Biosci Rep 2020 May;40(5)

Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, China.

MicroRNAs (miRNAs) are endogenous non-coding small RNAs that play an important role in the development of many malignant tumors. In addition, recent studies have reported that single nucleotide polymorphisms (SNPs) located in the miRNA functional region was inextricably linked to tumor susceptibility. In the present study, we investigated the susceptibility between miR-618 rs2682818 C>A and Hirschsprung disease (HSCR) in the Southern Chinese population (1470 patients and 1473 controls). Read More

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http://dx.doi.org/10.1042/BSR20193989DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7214396PMC

Diagnostic Algorithm in Hirschsprung's Disease: Focus on Immunohistochemistry Markers.

In Vivo 2020 May-Jun;34(3):1355-1359

Department of Clinical Pathology, Nicolaus Copernicus University in Torun, Ludwik Rydygier Collegium Medicum, Bydgoszcz, Poland.

Background/aim: Hirschsprung disease (HD) is caused by the congenital absence of ganglion cells in the distal bowel (aganglionosis). Rectal biopsy is considered important for its diagnosis. The aim of this study was to apply immunohistochemical staining using a minimal set of antibodies and develop an algorithm that will assist in the diagnosis of HD. Read More

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http://dx.doi.org/10.21873/invivo.11913DOI Listing
January 2020
1.148 Impact Factor

Should the search for ganglia in the distal rectal fistula in patients with anorectal malformation be abandoned?

J Pediatr Surg 2020 Apr 1. Epub 2020 Apr 1.

Pathology, Ca' Foncello Hospital, Treviso, Italy.

Purpose: Occurrence of Hirschsprung's disease in anorectal malformation (ARM) patients is rare, but many surgeons still ask to pathologists to search for ganglia in the terminal rectum/fistula; the histological procedure is time and money consuming and the results confounding. A consecutive series of ARM patients, in which the presence of ganglia in terminal rectum was revised, is herein presented.

Materials And Methods: Rectal specimens of ARM patients who underwent corrective surgery in the last 6 years were retrieved. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2020.03.021DOI Listing

Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation.

Acta Neurol Belg 2020 Apr 25. Epub 2020 Apr 25.

Department of Neurology, Ghent University Hospital, Ghent, Belgium.

Central hypoventilation in adult patients is a rare life-threatening condition characterised by the loss of automatic breathing, more pronounced during sleep. In most cases, it is secondary to a brainstem lesion or to a primary pulmonary, cardiac or neuromuscular disease. More rarely, it can be a manifestation of congenital central hypoventilation syndrome (CCHS). Read More

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http://dx.doi.org/10.1007/s13760-020-01363-wDOI Listing

Near-fatal enterocolitis as an opportunity for diagnosing Hirschsprung disease.

Pediatr Int 2020 Apr 23;62(4):504-506. Epub 2020 Apr 23.

Department of Pediatrics, Takeda General Hospital, Aizuwakamatsu City, Fukushima, Japan.

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http://dx.doi.org/10.1111/ped.14114DOI Listing

Editorial: Infection-Related Immune-Mediated Diseases and Microbiota.

Front Pediatr 2020 7;8:108. Epub 2020 Apr 7.

Department of Pediatrics, Kuopio University Hospital, Kuopio, Finland.

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http://dx.doi.org/10.3389/fped.2020.00108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7154069PMC

Animal Models of Congenital Gastrointestinal Maladies.

Adv Exp Med Biol 2020 ;1236:87-107

The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.

The gastrointestinal (GI) tract consists of a remarkable series of organs that spatially and temporally coordinate the vital process of digestion to extract key nutrients required to sustain our day-to-day functions. During development, it undergoes complex and highly specialized morphogenetic events to form functionally distinct organs. Its failure to develop properly leads to serious congenital diseases, which if left untreated are particularly devastating and often result in premature death. Read More

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http://dx.doi.org/10.1007/978-981-15-2389-2_4DOI Listing

Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype.

Mol Genet Genomic Med 2020 Apr 11:e1086. Epub 2020 Apr 11.

Division of Endocrinology, Department of Pediatric Medicine, Sidra Medicine, Doha, Qatar.

Background: There are few reports describing the proximal deletions of the short arm of chromosome 20, making it difficult to predict the likely consequences of these deletions. Most previously reported cases have described the association of 20p11.2 deletions with Alagille syndrome, while there are others that include phenotypes such as panhypopituitarism, craniofacial dysmorphism, polysplenia, autism, and Hirschsprung disease. Read More

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http://dx.doi.org/10.1002/mgg3.1086DOI Listing

Point mutagenesis in mouse reveals contrasting pathogenetic effects between MEN2B- and Hirschsprung disease-associated missense mutations of the RET gene.

Dev Growth Differ 2020 May 28;62(4):214-222. Epub 2020 Apr 28.

Division for Neural Differentiation and Regeneration, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Japan.

Missense mutations of the RET gene have been identified in both multiple endocrine neoplasia (MEN) type 2A/B and Hirschsprung disease (HSCR: congenital absence of the enteric nervous system, ENS). Current consensus holds that MEN2A/B and HSCR are caused by activating and inactivating RET mutations, respectively. However, the biological significance of RET missense mutations in vivo has not been fully elucidated. Read More

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http://dx.doi.org/10.1111/dgd.12664DOI Listing

Human skin-derived precursor cells xenografted in aganglionic bowel.

J Pediatr Surg 2020 Mar 25. Epub 2020 Mar 25.

Division of Pediatric Surgery, Department of Surgery, School of Medicine, Stanford University, Division of Pediatric Surgery, 300 Pasteur Drive, Alway M116, Stanford, CA 94305. Electronic address:

Purpose: One in 5000 newborns is diagnosed with Hirschsprung disease each year in the United States. The potential of employing neural crest stem cells to restore the enteric nervous system has been investigated. Skin-derived precursor cells (SKPs) are multipotent progenitor cells that can differentiate into neurons and gliocytes in vitro and generate enteric ganglion-like structures in rodents. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2020.03.006DOI Listing

Neuropathology of Mowat-Wilson Syndrome.

Pediatr Dev Pathol 2020 Apr 6:1093526620903956. Epub 2020 Apr 6.

Department of Pathology & Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio.

Mowat-Wilson syndrome (MWS) is a syndromic form of Hirschsprung disease that is characterized by variable degrees of intellectual disability, characteristic facial dysmorphism, and a diverse set of other congenital malformations due to haploinsufficiency of . A variety of brain malformations have been described in neuroimaging studies of MWS patients, and the role of in the brain has been studied in a multitude of genetically engineered mouse models that are now available. However, a paucity of autopsy information limits our ability to correlate data from neuroimaging studies and animal models with actual MWS patient tissues. Read More

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http://dx.doi.org/10.1177/1093526620903956DOI Listing

Aberrant Expressions and Variant Screening of in Indonesian Hirschsprung Patients.

Front Pediatr 2020 11;8:60. Epub 2020 Mar 11.

Faculty of Medical Sciences, Biosciences Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.

The () gene has been implicated in the pathogenesis of Hirschsprung disease (HSCR), a complex genetic disorder characterized by the loss of ganglion cells in varying lengths of gastrointestinal tract. We wished to investigate the role of variants, both rare and common variants, as well as its mRNA expression in Indonesian HSCR patients. Sanger sequencing was performed in 54 HSCR patients to find a pathogenic variant in . Read More

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http://dx.doi.org/10.3389/fped.2020.00060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078240PMC

Thyroid Hormone in the Pathogenesis of Congenital Intestinal Dysganglionosis.

Pediatr Dev Pathol 2020 Mar 26:1093526620908984. Epub 2020 Mar 26.

Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Introduction: The objective of this study is to investigate the role of thyroid hormone (TH) in the pathogenesis of intestinal dysganglionosis (ID).

Methods: A zebrafish model of congenital hypothyroidism (CH) was created by exposing the larvae to the 6-propyl-2-thiouracil (PTU). The enteric neurons were labeled with anti-HuC/D antibodies. Read More

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http://dx.doi.org/10.1177/1093526620908984DOI Listing

Mowat-Wilson syndrome in a Chinese population: A case series.

Am J Med Genet A 2020 Mar 20. Epub 2020 Mar 20.

Clinical Genetic Service, Department of Health, HKSAR, Hong Kong.

Mowat-Wilson syndrome (MWS) is characterized clinically by a distinctive facial gestalt, intellectual disability, microcephaly, epilepsy, and nonobligatory congenital malformations such as Hirschsprung disease, urogenital anomalies, congenital heart disease, eye malformations. This article summarized the clinical features and molecular findings of 15 Chinese MWS patients. The results revealed a higher incidence of congenital heart disease in Chinese MWS patients compared to that previously reported in Caucasian cohorts, while the incidence of Hirschsprung disease and genitourinary malformation appeared to be lower. Read More

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http://dx.doi.org/10.1002/ajmg.a.61557DOI Listing
March 2020
2.159 Impact Factor

The Effect of Pediatric Colorectal Short-Term Medical Service Trips on Self-Reported Confidence in Patient Care in Volunteers in the Home Country.

Ann Glob Health 2020 Mar 12;86(1):28. Epub 2020 Mar 12.

Division of Surgery, Clinical Department of Pediatric Surgery, Medical University of Vienna, Vienna, AT.

Introduction: Short-term international medical service trips (MST) are established means to access specialized medical aid in resource-limited areas. The field of pediatric colorectal surgery is a subspecialty in pediatric surgery that mainly treats anorectal malformations (ARM) and Hirschsprung disease (HD). This study aimed to investigate the impact of MST on the donors' perception of competency concomitantly to the impact on patients in the donors' home country. Read More

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http://dx.doi.org/10.5334/aogh.2744DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7068847PMC

Transanal Endoscopic Microsurgery - Endoscopy assisted treatment of colorectal anastomotic stenosis.

Ann Coloproctol 2020 Mar 16. Epub 2020 Mar 16.

Department of General Surgery, Surgical Specialties and Organ Transplantation , Rome, Italy.

Transanal Endoscopic Microsurgery (TEM) is a type of NOTES, developed for rectal tumors and used also to treat other rectal diseases. Anastomotic complications after colorectal surgery, including stenosis, represent a challenging problem. We present the case of a 36 year-old woman with a diagnosis of Hirschsprung Disease that was submitted to a modified Duhamel operation. Read More

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http://dx.doi.org/10.3393/ac.2019.09.30.3DOI Listing

Impact of consolidation of cases on post-operative outcomes for index pediatric surgery cases.

J Pediatr Surg 2020 Feb 25. Epub 2020 Feb 25.

University of Utah, Department of Surgery, Division of Pediatric Surgery, Salt Lake City, UT.

Background: The effect of the consolidation of neonatal pediatric surgical cases to limited surgeons within a hospital is unknown. We elected to model the distribution of complex neonatal procedures using an economic measure of market concentration, the Herfindahl-Hirschmann Index (HHI), and study its effect on outcomes of index pediatric surgical operations.

Methods: We used data from 49 US children's hospitals between 2007 and 2017 for the following procedures: congenital diaphragmatic hernia repair (CDH), esophageal atresia and tracheoesophageal fistula repair (EA/TEF), and pull-through for Hirschsprung disease (HD). Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2020.02.044DOI Listing
February 2020

Long-term outcomes of single-incision laparoscopic technique in Soave procedure compared with heart-shaped anastomosis for Hirschsprung disease.

Int J Colorectal Dis 2020 Jun 14;35(6):1049-1054. Epub 2020 Mar 14.

Department of Pediatric Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1095 Jiefang Ave, Wuhan, 430030, China.

Purpose: This retrospective study compared the long-term outcomes of single-incision laparoscopy-assisted Soave procedure (SILSP) with single-incision laparoscopy-assisted heart-shaped anastomosis (SILHSA) in patients with Hirschsprung disease (HSCR).

Methods: Patients diagnosed with HSCR that underwent SILSP or SILHSA between January 2009 and January 2015 at our institute were enrolled in this retrospective study. Data on the clinical characteristics, perioperative complications, and postoperative quality of life were retrospectively collected and analyzed. Read More

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http://dx.doi.org/10.1007/s00384-020-03565-3DOI Listing

Does clinical score accurately support fecoflowmetry as a means to assess anorectal motor activity in pediatric patients after anorectal surgery?

Asian J Surg 2020 Mar 11. Epub 2020 Mar 11.

Department of Pediatric Surgery, Kurume University School of Medicine, 67 Asahi-machi, Kurume, Fukuoka, 830-0011, Japan.

Purpose: We investigated the relationship between Krickenbeck score (KS) and fecoflowmetry (FFM) parameters and assessed the characteristics of this new questionnaire test by comparing Kelly's clinical score (KCS) in pediatric patients with anorectal surgery for anorectal malformation (ARM) and Hirschsprung's disease (HD).

Methods: We enrolled pediatric patients who underwent anorectal surgery for ARM or HD. Bowel function was assessed with KS and KCS thereafter, FFM and anorectal manometry (AM) were conducted. Read More

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http://dx.doi.org/10.1016/j.asjsur.2020.02.011DOI Listing

Laparoscopy-assisted Transanal Endorectal Pull-through for the Management of Hirschsprung's Disease in Nigeria: Report of Two Cases.

Niger J Surg 2020 Jan-Jun;26(1):78-80. Epub 2020 Feb 10.

Department of Surgery, Paediatric Surgery Unit, College of Medicine, University of Lagos and Lagos University Teaching Hospital, Idi Araba, Lagos, Nigeria.

Hirschsprung's disease is a relatively common disease in pediatric colorectal surgery. The treatment modalities have evolved from third-stage to single-stage in the past three decades. The single-stage procedure can be performed using the open, transanal or laparoscopy-assisted techniques. Read More

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http://dx.doi.org/10.4103/njs.NJS_39_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041351PMC
February 2020

Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis.

BMC Gastroenterol 2020 Mar 12;20(1):67. Epub 2020 Mar 12.

Department of Pediatric Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, No. 9 Jinsui Road, Guangzhou, Guangdong Province, China.

Background: Advances in surgical techniques and perioperative care have improved the short- and mid-term postoperative outcomes of patients with Hirschsprung disease (HD). However, the long-term outcomes of these patients (older than 10 years) have not been fully investigated. The aim of this systematic review is to clarify the prevalence of long-term outcomes and the quality of life of these patients. Read More

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http://dx.doi.org/10.1186/s12876-020-01208-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7066788PMC

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.

Am J Med Genet A 2020 May 9;182(5):1278-1283. Epub 2020 Mar 9.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.

Waardenburg syndrome (WS) is a group of genetic disorders associated with varying components of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and eyes. There exist four different WS subtypes, each defined by the absence or presence of additional features. One of the genes associated with WS is SOX10, a key transcription factor for the development of neural crest-derived lineages. Read More

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http://dx.doi.org/10.1002/ajmg.a.61542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7167353PMC

Genetic variants in , and , and relevant interaction networks, contribute to the risk of Hirschsprung disease.

Aging (Albany NY) 2020 Mar 6;12(5):4379-4393. Epub 2020 Mar 6.

Department of Pediatric Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Hirschsprung disease (HSCR), the most common enteric neuropathy, stands as a model for complex genetic disorders. It has recently been demonstrated that both and map to the -dependent HSCR susceptibility loci. We therefore sought to explore whether genetic variants within , and , and their genetic interaction networks are associated with HSCR. Read More

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http://dx.doi.org/10.18632/aging.102891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093166PMC

Robust, 3-Dimensional Visualization of Human Colon Enteric Nervous System Without Tissue Sectioning.

Gastroenterology 2020 Feb 27. Epub 2020 Feb 27.

Children's Hospital of Philadelphia Research Institute, Abramson Research Center, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address:

Background & Aims: Small, 2-dimensional sections routinely used for human pathology provide limited information about bowel innervation. We developed a technique to image human enteric nervous system (ENS) and other intramural cells in 3 dimensions.

Methods: Using mouse and human colon tissues, we developed a method that combines tissue clearing, immunohistochemistry, confocal microscopy, and quantitative analysis of full-thickness bowel without sectioning to quantify ENS and other intramural cells in 3 dimensions. Read More

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http://dx.doi.org/10.1053/j.gastro.2020.02.035DOI Listing
February 2020

Timing of the definitive procedure and ileostomy closure for total colonic aganglionosis HD: Systematic review.

J Pediatr Surg 2020 Feb 19. Epub 2020 Feb 19.

Department of Pediatric Surgery, John R. Oishei Children's Hospital, Buffalo, NY.

Aim: To establish the cogency of recommendations for the appropriate age for pull-through and ileostomy closure in Total Colonic Aganglionosis-Hirschsprung Disease's (TCA-HD).

Method: Medline, PubMed, Cochrane, and the ClinicalKey databases were searched without date restriction. The studies that reported TCA-HD cases were evaluated for the number of cases, age at the definitive procedure, age at the ileostomy closure, reported complications, and the type of procedure. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2020.02.007DOI Listing
February 2020

The overall risk of malignancies is not increased in patients with Hirschsprung disease.

Pediatr Surg Int 2020 Apr 26;36(4):471-475. Epub 2020 Feb 26.

Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

Purpose: Hirschsprung disease (HSCR) has previously been associated with increased risk of medullary thyroid cancer. The aim of this study was to assess the overall risk of malignancies in patients with Hirschsprung disease in a population-based cohort.

Methods: This was a nationwide, population-based cohort study. Read More

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http://dx.doi.org/10.1007/s00383-020-04631-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7069915PMC

Accuracy of transition zone in contrast enema to predict intraoperative aganglionosis level in patients with Hirschsprung disease.

BMC Res Notes 2020 Feb 25;13(1):104. Epub 2020 Feb 25.

Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr, Sardjito Hospital, Jl. Kesehatan No. 1, Yogyakarta, 55281, Indonesia.

Objective: While frozen section methods have been widely conducted to determine aganglionosis segment during transanal endorectal pull-through (TEPT) for Hirschsprung disease (HSCR) patients in most institutions, some hospitals still rely on contrast enema to predict aganglionosis segments due to unavailability of frozen section facilities. We determined the accuracy of transition zone in contrast enema to predict aganglionosis segments during TEPT. We retrospectively reviewed all contrast enema and frozen sections for HSCR patients under 2 years of age who underwent TEPT at our institution. Read More

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http://dx.doi.org/10.1186/s13104-020-04945-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7043041PMC
February 2020

Comparison of pre-operative Hirschsprung-associated enterocolitis using classical criteria and Delphi method: A diagnostic study.

Ann Med Surg (Lond) 2020 Mar 3;51:37-40. Epub 2020 Feb 3.

Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, 55281, Indonesia.

Background: Hirschsprung-associated enterocolitis (HAEC) is the most common complication of Hirschsprung disease (HSCR) that may happen pre-operatively. Several methods have been reported to determine HAEC. Because the diagnosis of pre-operative HAEC might change the surgical plan, we aimed to determine the accuracy of the classical criteria for diagnosis of pre-operative HAEC and using the Delphi method as a gold standard. Read More

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http://dx.doi.org/10.1016/j.amsu.2020.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011005PMC

MicroRNA-4516-mediated regulation of relies on 3' UTR -acting variants and contributes to the altered risk of Hirschsprung disease.

J Med Genet 2020 Feb 17. Epub 2020 Feb 17.

Department of Pediatric Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Background: Hirschsprung disease (HSCR) is a life-threatening congenital disorder in which the enteric nervous system is completely missing from the distal gut. Recent studies have shown that miR-4516 markedly inhibits cell migration, and as one of its potential targets, functions as a modifier for developing HSCR. We thus aimed to evaluate the role of miR-4516 and in HSCR and how they contribute to the pathogenesis of HSCR. Read More

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http://dx.doi.org/10.1136/jmedgenet-2019-106615DOI Listing
February 2020

Quality of life and neuropsychological development at school age in Hirschsprung's disease.

J Pediatr Surg 2020 Jan 30. Epub 2020 Jan 30.

Department of Neonatology, Hôpital Nord, Chemin des Bourrely, 13015 Marseille, France.

Purpose: To determine the quality of life and neuropsychological development of school-aged children with Hirschsprung's disease.

Methods: In this observational monocentric study, a multidisciplinary team prospectively assessed quality of life, neuropsychometric development and bowel functional outcomes. This study was registered on ClinicalTrial. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2020.01.005DOI Listing
January 2020

Pull-through procedure in children with Hirschsprung disease: A nationwide analysis on postoperative outcomes.

J Pediatr Surg 2020 May 31;55(5):899-903. Epub 2020 Jan 31.

Dewitt-Daughtry Family Department of Surgery, Division of Pediatric Surgery, University of Miami Miller School of Medicine, Miami, FL. Electronic address:

Purpose: No nationwide studies on hospital readmissions exist for children who have undergone pull-through operations for Hirschsprung disease. The study aim is to identify determinants of postoperative discharge outcomes and hospital readmissions in children with Hirschsprung disease.

Methods: The Nationwide Readmissions Database for 2010-2014 was queried for children (<18yo) with Hirschsprung disease and whom had undergone pull-through procedure, utilizing ICD-9 codes 751. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2020.01.038DOI Listing

Presence of blaCTX-M antibiotic resistance gene in Lactobacillus spp. isolated from Hirschsprung diseased infants with stoma.

J Infect Dev Ctries 2019 05 31;13(5):426-433. Epub 2019 May 31.

Department of Microbiology, University of Dhaka, Dhaka, Bangladesh.

Introduction: Although antibiotics have revolutionized health care by saving lives, the evolution of both pathogenic and commensal antibiotic-resistant bacteria are emerging as a threat in the health sector. As for Lactobacillus spp., it is usually a non-pathogenic bacteria. Read More

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http://dx.doi.org/10.3855/jidc.10968DOI Listing

Accuracy of colonic mucosal patterns at contrast enema for diagnosis of Hirschsprung disease.

Pediatr Radiol 2020 May 12;50(6):810-816. Epub 2020 Feb 12.

Division of Radiodiagnosis, Department of Medical Imaging and Clinical Oncology, Faculty of Medicine and Health Sciences, Stellenbosch University and Tygerberg Hospital, Cape Town, South Africa.

Background: Various patterns of colonic mucosal irregularity have been recorded on contrast enema, each with individually very low sensitivity, but high specificity.

Objective: To assess the accuracy of the radiologic features of Hirschsprung disease utilising a unifying stratification of any form of colonic mucosal irregularity on contrast enema.

Materials And Methods: We conducted a retrospective study of children with suspected Hirschsprung disease managed at a tertiary South African hospital from January 2009 through April 2015. Read More

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http://dx.doi.org/10.1007/s00247-020-04631-2DOI Listing

Histopathological perspective of the pulled-through colon in Hirschsprung disease: Impact on clinical outcome.

J Pediatr Surg 2020 Jan 24. Epub 2020 Jan 24.

Pediatric Surgery department, Faculty of medicine, Ain Shams University, Egypt.

Background: The outcome in HD has not been always satisfactory even after a technically sound operation.

Purpose: To define the characteristic histopathological features of the pulled-through colon in patients with HD, and it is impact on clinical outcome.

Patients And Methods: The study included patients with HD who underwent surgical repair between 2010 through 2016. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2020.01.007DOI Listing
January 2020

Visualization of the human enteric nervous system by confocal laser endomicroscopy in Hirschsprung's disease: An alternative to intraoperative histopathological diagnosis?

Neurogastroenterol Motil 2020 May 27;32(5):e13805. Epub 2020 Jan 27.

Department of Endoscopy, School of Medicine, The Jikei University, Tokyo, Japan.

Background: Hirschsprung's disease is a congenital abnormality of the enteric nervous system (ENS) presenting severe constipation soon after birth due to the lack of ganglion cells in the distal gut. Surgery for Hirschsprung's disease requires an intraoperative histopathological diagnosis to assess the extent of aganglionosis. Confocal laser endomicroscopy (CLE) is a novel endoscopic technique allowing real-time, in vivo analysis of cellular details during ongoing endoscopy. Read More

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http://dx.doi.org/10.1111/nmo.13805DOI Listing

[New mutations associated with Hirschsprung disease].

An Pediatr (Barc) 2020 Jan 23. Epub 2020 Jan 23.

Hospital Universitario La Paz, Madrid, España; Universidad Autónoma de Madrid, Madrid, España; Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ-CIBERER- Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, España.

Introduction: Hirschsprung disease is caused by an impairment in cell migration from the neural crest to the gastrointestinal tract, resulting in an absence of neurons in the myenteric plexus. Many mutations in several genes have been associated to Hirschsprung disease; most of them affecting the RET proto-oncogen pathway. The purpose of this study is the description of novel and known mutations in genes associated to Hirschsprung disease and their prognostic implications. Read More

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http://dx.doi.org/10.1016/j.anpedi.2019.05.019DOI Listing
January 2020

Prospective study reveals a microbiome signature that predicts the occurrence of post-operative enterocolitis in Hirschsprung disease (HSCR) patients.

Gut Microbes 2020 Jan 16:1-13. Epub 2020 Jan 16.

State Key Laboratory of Reproductive Medicine, Center for Global Health, Key Laboratory of Modern Toxicology of Ministry of Education, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu, China.

Hirschsprung disease (HSCR) is a birth defect with an approximate incidence of 1/5,000 live births, and up to one-third of HSCR patients develop Hirschsprung-associated enterocolitis (HAEC), the leading cause of HSCR-related death. Very little is known about the pathogenesis, prevention, and early diagnosis of HAEC. Here, we used a prospective study to investigate the enteric microbiome composition at the time of surgery as a predictor for developing postoperative HAEC. Read More

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http://dx.doi.org/10.1080/19490976.2020.1711685DOI Listing
January 2020

Aberrant Distributions of Collagen I, III, and IV in Hirschsprung Disease.

J Pediatr Gastroenterol Nutr 2020 Apr;70(4):450-456

Department of Pediatric Surgery, Qilu Hospital, Shandong University, Jinan, Shandong Province, China.

Background: Hirschsprung disease (HSCR) is the most common congenital gut motility disorder, involving a severe anomaly of the enteric nervous system, and is characterized by functional intestinal obstruction due to lack of intrinsic innervation (aganglionosis) in the distal bowel.

Objective: The aim of this study was to examine the distribution patterns of collagens I (Col I), III (Col III), and IV (Col IV) in the enteric nervous system of HSCR patients, to determine whether or not collagen levels are altered in the aganglionic bowel.

Methods: We measured the expression levels of Col I, Col III, and Col IV in colonic muscle from 129 children with HSCR. Read More

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http://dx.doi.org/10.1097/MPG.0000000000002627DOI Listing

Laparoscopic-Assisted Transanal Pull-Through in Hirschsprung Disease: Does Laparoscopic Dissection Minimize Anal Overstretching?

Authors:
Osama A Bawazir

J Laparoendosc Adv Surg Tech A 2020 Mar 14;30(3):338-343. Epub 2020 Jan 14.

Pediatric Surgery and Pediatric Urology, Umm Al-Qura University Faculty of Medicine, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia.

Surgical treatment for Hirschsprung disease (HD) has evolved from a staged repair to a primary operation but is still associated with significant complications. Extensive transanal dissection may overstretch the sphincter and cause partial tear; however, laparoscopic dissection can decrease rectal overstretching. Thus, this study aimed to evaluate the outcome of surgical management of HD and the efficacy of laparoscopic-assisted transanal endorectal pull-through in infants and children in our center. Read More

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http://dx.doi.org/10.1089/lap.2019.0524DOI Listing

Dr. Orvar Swenson and the Pull-Through.

Am Surg 2019 Dec;85(12):1311-1313

From the *Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania and.

Dr. Orvar Swenson is best remembered for developing the , a technique he developed to treat Hirschsprung's disease. After graduating from Harvard Medical School and beginning his residency at Peter Bent Brigham Hospital, Dr. Read More

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December 2019

A primer on the genetics of medullary thyroid cancer.

Curr Oncol 2019 12 1;26(6):389-394. Epub 2019 Dec 1.

Endocrine Oncology Site Group, Princess Margaret Cancer Centre, Toronto, ON.

Medullary thyroid cancer is a rare type of neuroendocrine tumour that arises from the parafollicular cells (C cells) of the thyroid gland. It accounts for 3%-5% of thyroid cancer cases. Close to 25% of cases are familial, and 75% are considered sporadic. Read More

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http://dx.doi.org/10.3747/co.26.5553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927790PMC
December 2019