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Hirschsprung disease

miR-100 rs1834306 A>G Increases the Risk of Hirschsprung Disease in Southern Chinese Children

<p><em>miR-100</em> rs1834306 A&gt;G Increases the Risk of Hirschsprung Disease in Southern Chinese Children</p>

... Background: Hirschsprung disease (HSCR) is a rare congenital gastrointestinal disease characterized by the absence of intestinal submucosal and myometrial ganglion ...

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AN INTEGRATED APPROACH TOWARDS HIRSCHSPRUNG DISEASE (HD) AND ITS MANAGEMENT.

AN INTEGRATED APPROACH TOWARDS HIRSCHSPRUNG DISEASE (HD) AND ITS MANAGEMENT.

... Hirschsprung disease (HD) is a disease of the large intestine that causes severe constipation or intestinal obstruction. People with HD are born with it. The large intestine, which includes the colon ...

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Original Article Expression analysis of BMP2 BMP5 BMP10 in human colon tissues from Hirschsprung disease patients

Original Article Expression analysis of BMP2 BMP5 BMP10 in human colon tissues from Hirschsprung disease patients

... Abstract: Objective: Bone morphogenetic proteins (BMPs) are members of the transforming growth factor β (TGF β) superfamily. BMP2, BMP5 and BMP10 exert their biological functions by interacting with membrane bound recep- ...

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A Triple Threat: Down Syndrome, Congenital Central Hypoventilation Syndrome, and Hirschsprung Disease

A Triple Threat: Down Syndrome, Congenital Central Hypoventilation Syndrome, and Hirschsprung Disease

... Down syndrome (DS) is recognized by characteristic facial features, intellectual disability, and an increased risk for cardiac malformations and duodenal atresia. Recently, Hirschsprung disease (HSCR), or ...

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The utility of the hematoxylin and eosin staining in patients with suspected Hirschsprung disease

The utility of the hematoxylin and eosin staining in patients with suspected Hirschsprung disease

... Hirschsprung disease (HSCR, OMIM #142623), a heterogeneous genetic disorder, is characterized by the absence of ganglion cells in the Meissner and Auerbach plexus of the intestinal tract, resulting in ...

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Hirschsprung disease in an adult with intestinal malrotation and volvulus: an exceptional association

Hirschsprung disease in an adult with intestinal malrotation and volvulus: an exceptional association

... Case presentation: A 43-year-old patient with a history of colectomy for colonic inertia and megadolichocolon was admitted to the Carcassonne Hospital emergency room for a volvulus of small bowel obstruction in a chronic ...

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Acetylcholinesterase histochemistry (AChE) - A helpful technique in the diagnosis and in aiding the operative procedures of Hirschsprung disease

Acetylcholinesterase histochemistry (AChE) - A helpful technique in the diagnosis and in aiding the operative procedures of Hirschsprung disease

... of Hirschsprung disease) and negative (from normal rectal mucosa) control tissues were stained with each batch of staining with AChE, to ensure its technical ...

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HISTORICAL PERSPECTIVE IN DIAGNOSIS, SURGICAL PROCEDURES AND COMPLICATIONS OF HIRSCHSPRUNG DISEASE

HISTORICAL PERSPECTIVE IN DIAGNOSIS, SURGICAL PROCEDURES AND COMPLICATIONS OF HIRSCHSPRUNG DISEASE

... is Hirschsprung disease, also known as ...intestinalaganglionosis. Hirschsprung disease occurs in 1/5000 live births, and typically presents with the failure to pass meconium, along with ...

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Comparative Study of Toluidine Blue Special Stain and Immunohistochemistry in Hirschsprung Disease

Comparative Study of Toluidine Blue Special Stain and Immunohistochemistry in Hirschsprung Disease

... Hirschsprung disease were typed according to presentation confirmed by imaging and ...were Hirschsprung disease, one case as intestinal neuronal dysplasia,8 cases as non Hirschsprung ...

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Is hematoxylin-eosin staining in rectal mucosal and submucosal biopsies still useful for the diagnosis of Hirschsprung disease?

Is hematoxylin-eosin staining in rectal mucosal and submucosal biopsies still useful for the diagnosis of Hirschsprung disease?

... Background: Hematoxylin-eosin (HE) staining of a full-thickness rectal wall fragment is classically used for the diagnosis of Hirschsprung disease (HD). However, this technique requires large fragments for ...

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Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease

Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease

... Hirschsprung disease (HSCR: MIM# 142623) is a com- plex genetic disorder characterized by the absence of ganglion cells in the intestines, resulting in a functional obstruction in ...

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Original Article Additional criteria in diagnosis of transitional zone in Hirschsprung disease

Original Article Additional criteria in diagnosis of transitional zone in Hirschsprung disease

... Abstract: In Hirschsprung disease (HD) transitional zone (TZ) is interposed between aganglionic and normogan- glionic zone (NZ). Its presence on proximal resection margin could be reason for postoperative ...

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Hirschsprung disease: current perspectives

Hirschsprung disease: current perspectives

... Abstract: Hirschsprung disease is a complex congenital condition of the intestine, which is recognized as being of genetic origin and results from a disturbance of the normal development of the enteric ...

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Original Article Differential expressions of BMPR1α, ACTN4α and FABP7 in Hirschsprung disease

Original Article Differential expressions of BMPR1α, ACTN4α and FABP7 in Hirschsprung disease

... Hirschsprung disease (HSCR) is characterized by segmental aganglionosis of the terminal ...The disease has a complex genetic etiology with susceptibility genes including the RET members [2, 3], ...

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Original Article WNT3A gene expression is associated with isolated Hirschsprung disease polymorphism and disease status

Original Article WNT3A gene expression is associated with isolated Hirschsprung disease polymorphism and disease status

... Abstract: WNT3A has been regarded as an activator of the canonical Wnt signaling pathway. It has been found Wnt signaling pathway is closely related with embrionic development and Hirschsprung disease ...

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Original Article Role of calretinin immunohistochemical stain in evaluation of Hirschsprung disease: an institutional experience

Original Article Role of calretinin immunohistochemical stain in evaluation of Hirschsprung disease: an institutional experience

... Abstract: Background: The use of calretinin immunostain (IHC) in the evaluation of rectal suction biopsies for Hirschsprung disease (HD) has been reported by Kapur et al. and others. The first goal of this ...

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Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

... Hirschsprung disease (HSCR) is the most common form of congenital obstruction of the bowel, with an incidence of ~1/5000 live ...the disease risk must be due to as yet unidentified rare or common ...

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Outcomes in patients with Hirschsprung disease following definitive surgery

Outcomes in patients with Hirschsprung disease following definitive surgery

... Hirschsprung disease (HSCR), which is characterized by the absence of ganglion cells (Meissnerr and Auerbach) along variable lengths of the distal gastrointestinal tract, is a common cause of neonatal ...

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Negative Association Between lncRNA HOTTIP rs3807598 C&gt;G and Hirschsprung Disease

<p>Negative Association Between lncRNA <em>HOTTIP</em> rs3807598 C&gt;G and Hirschsprung Disease</p>

... Herein, we for the fi rst time explored the correlation of HOTTIP SNPs with the HSCR susceptibility using a large sample size population. Unexpectedly, we failed to fi nd a signi fi cant correlation between HOTTIP SNP ...

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Original Article Utilization of RET, Bcl-2 and CR immunohistochemistry in the diagnosis of Hirschsprung disease and its allied disorders

Original Article Utilization of RET, Bcl-2 and CR immunohistochemistry in the diagnosis of Hirschsprung disease and its allied disorders

... Hirschsprung disease (HSCR), or congenital intestinal aganglionosis, is a malformation of the enteric nervous system (ENS), with an inci- dence of 1 in 5000 live births [1, ...

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