Gastrointestinal Tract - Abnormalities - Revision history

Z8600021 at 00:01, 19 August 2020

2020-08-19T00:01:13Z

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	{{ICD-11}} {{ICD11weblink}}1772690306 LB16.1 Hirschsprung disease] - ''This is a developmental anomaly affecting the intestinal tract characterized by congenital absence of myenteric ganglion cells (aganglionosis) in a segment of the large bowel. Due to the absence of intrinsic innervation of the muscle layers of the affected segment, there is a loss of motor function. This results in an abnormally large or dilated colon (congenital megacolon) with intestinal occlusion or constipation. This condition becomes evident shortly after birth.''		{{ICD-11}} {{ICD11weblink}}1772690306 LB16.1 Hirschsprung disease] - ''This is a developmental anomaly affecting the intestinal tract characterized by congenital absence of myenteric ganglion cells (aganglionosis) in a segment of the large bowel. Due to the absence of intrinsic innervation of the muscle layers of the affected segment, there is a loss of motor function. This results in an abnormally large or dilated colon (congenital megacolon) with intestinal occlusion or constipation. This condition becomes evident shortly after birth.''

			Hirschprung’s disease ({{intestinal aganglionosis}}, {{Hirschsprung's disease}}, {{aganglionic colon}}, {{megacolon}}, congenital aganglionic megacolon, congenital megacolon, HSCR) is a congenital intestinal motility disorder with an incidence of 1:5000, with a male to female predominance of 4:1.

	~~({{intestinal aganglionosis}}, {{Hirschsprung's disease}}, {{aganglionic colon}}, {{megacolon}}, congenital aganglionic megacolon, congenital megacolon)~~ A condition caused by the lack of enteric nervous system (neural ganglia) in the intestinal tract responsible for gastric motility (peristalsis). In general, its severity is dependent upon the amount of the GIT that lacks intrinsic ganglia, due to developmental lack of neural crest migration into those segments. (More? {{Neural crest abnormalities}})		A condition caused by the lack of enteric nervous system (neural ganglia) in the intestinal tract responsible for gastric motility (peristalsis). In general, its severity is dependent upon the amount of the GIT that lacks intrinsic ganglia, due to developmental lack of neural crest migration into those segments. (More? {{Neural crest abnormalities}})

	Historically, Hirschsprung's disease takes its name from Dr Harald Hirschsprung (1830-1916) a Danish pediatrician (of German extraction). In 1886, he presented at the German Society of Pediatrics conference in Berlin a case of 2 infants who died of complications of bowel obstruction (H. Hirschsprung, Stuhltragheit Neugeborener in Folge von Dilatation und Hypertrophie des Colons, Jhrb f Kinderh 27 (1888), pp. 1-7). Later autopsies identified a dilatation and hypertrophy of large intestine, and the rectum appeared normally narrow. Hirschsprung suggested that the condition was an inborn disease and named it congenital megacolon.		Historically, Hirschsprung's disease takes its name from Dr Harald Hirschsprung (1830-1916) a Danish pediatrician (of German extraction). In 1886, he presented at the German Society of Pediatrics conference in Berlin a case of 2 infants who died of complications of bowel obstruction (H. Hirschsprung, Stuhltragheit Neugeborener in Folge von Dilatation und Hypertrophie des Colons, Jhrb f Kinderh 27 (1888), pp. 1-7). Later autopsies identified a dilatation and hypertrophy of large intestine, and the rectum appeared normally narrow. Hirschsprung suggested that the condition was an inborn disease and named it congenital megacolon.
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	===Reviews===		===Reviews===


	{{#pmid:31426117}}		{{#pmid:31426117}}

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	===Articles===		===Articles===
			{{#pmid:32586397}}

	{{#pmid:29400311}}		{{#pmid:29400311}}

Z8600021 at 05:41, 9 March 2020

2020-03-09T05:41:13Z

← Older revision		Revision as of 16:41, 9 March 2020
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	===Reviews===		===Reviews===
			{{#pmid:31426117}}

	{{#pmid:26086457}}		{{#pmid:26086457}}

Z8600021 at 04:54, 21 November 2019

2019-11-21T04:54:03Z

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	<br>		<br>
	{{Gastrointestinal Tract Links}}		{{Gastrointestinal Tract Links}}

			{\| class="wikitable mw-collapsible mw-collapsed"
			! System Abnormalities
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			\| {{Abnormality Links}}
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	==Some Recent Findings==		==Some Recent Findings==
	{\|		{\|

Z8600021 at 00:26, 7 November 2019

2019-11-07T00:26:26Z

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			* '''Review - {{Hirschsprung disease}} - Insights on genes, penetrance, and prenatal diagnosis'''{{#pmid:31609069\|PMID31609069}} "The objective of this mini-review is to provide insights on the advances in the understanding of the genetic variants associated with different manifestations of Hirschsprung disease, which may present with a range of denervation from a short segment of colon to total colonic and small bowel or extensive aganglionosis. A recent article in this journal documented potential gene variants involved in long-segment Hirschsprung disease in 23 patients. Gene variants were identified using a 31-gene panel of genes related to Hirschsprung disease or enteric neural crest cell development, as previously reported in the literature. The study identified potentially harmful variants in eight genes across 13 patients, with a detection rate of 56.5% (13/23 patients). Five patients had pathologic variants in RET, NRG1, and L1CAM, and the remainder were considered variants of unknown significance. The authors attempted prenatal diagnosis of Hirschsprung disease utilizing an amniocentesis sample obtained for advanced maternal age in a family with a known deleterious RET mutation, manifested in the father (long-segment Hirschsprung disease) and older daughter (total colonic aganglionosis). The fetus had the same RET variant but, after several years of follow-up, has not developed any symptoms of Hirschsprung disease, supporting the conclusion that this RET mutation is an autosomal dominant gene with incomplete penetrance. This experience suggests that genetic counseling is appropriate to carefully assess the justification of prenatal testing, especially, when the phenotype of long-segment Hirschsprung disease is so variable and the disease is potentially curable with surgery."

	* '''Mice doubly deficient in Six4 and Six5 show ventral body wall defects reproducing human {{omphalocele}}'''{{#pmid:30237319\|PMID30237319}} "Omphalocele is a human congenital anomaly in ventral body wall closure and may be caused by impaired formation of the primary abdominal wall (PAW) and/or defects in abdominal muscle development. Here, we report that mice doubly deficient in homeobox genes Six4 and Six5 showed the same ventral body wall closure defects as those seen in human omphalocele. SIX4 and SIX5 were localized in surface ectodermal cells and somatic mesoderm-derived mesenchymal and coelomic epithelial cells (CECs) in the PAW." {{SIX}}		* '''Mice doubly deficient in Six4 and Six5 show ventral body wall defects reproducing human {{omphalocele}}'''{{#pmid:30237319\|PMID30237319}} "Omphalocele is a human congenital anomaly in ventral body wall closure and may be caused by impaired formation of the primary abdominal wall (PAW) and/or defects in abdominal muscle development. Here, we report that mice doubly deficient in homeobox genes Six4 and Six5 showed the same ventral body wall closure defects as those seen in human omphalocele. SIX4 and SIX5 were localized in surface ectodermal cells and somatic mesoderm-derived mesenchymal and coelomic epithelial cells (CECs) in the PAW." {{SIX}}

	* '''Evaluation of pre- and postnatally diagnosed gastrointestinal tract obstructions'''{{#pmid:29606013\|PMID29606013}} "Signs of congenital obstruction of the gastrointestinal tract (GIT) organs may present on prenatal ultrasonography. Prenatal detection is influenced by several factors, including obstruction site, lesion degree (partial or complete), the occurrence of associated malformations, and gestational week at screening. Here, we aimed to evaluate the success of prenatal diagnosis of GIT obstructions in a tertiary center in Turkey. ...The prenatal detection rate among all cases was 60.7%. These findings demonstrate the importance of prenatal ultrasonography and success of prenatal detection especially for upper GIT abnormalities. Although there are some prenatal signs of GIT obstructions, such as double bubble, polyhydramnios, enlarged bowel, and failure to visualize the stomach, early prenatal diagnosis is difficult and can be delayed, resulting in the detection of GIT obstruction after birth. When suspecting GIT obstruction, clinicians should evaluate the fetal anatomy carefully and be aware of associated chromosomal abnormalities."{{ultrasound}}		* '''Evaluation of pre- and postnatally diagnosed gastrointestinal tract obstructions'''{{#pmid:29606013\|PMID29606013}} "Signs of congenital obstruction of the gastrointestinal tract (GIT) organs may present on prenatal ultrasonography. Prenatal detection is influenced by several factors, including obstruction site, lesion degree (partial or complete), the occurrence of associated malformations, and gestational week at screening. Here, we aimed to evaluate the success of prenatal diagnosis of GIT obstructions in a tertiary center in Turkey. ...The prenatal detection rate among all cases was 60.7%. These findings demonstrate the importance of prenatal ultrasonography and success of prenatal detection especially for upper GIT abnormalities. Although there are some prenatal signs of GIT obstructions, such as double bubble, polyhydramnios, enlarged bowel, and failure to visualize the stomach, early prenatal diagnosis is difficult and can be delayed, resulting in the detection of GIT obstruction after birth. When suspecting GIT obstruction, clinicians should evaluate the fetal anatomy carefully and be aware of associated chromosomal abnormalities."{{ultrasound}}

	* '''Patient characteristics are important determinants of neurodevelopmental outcome during infancy in giant omphalocele'''{{#pmid:25676186\|PMID25676186}} "Between 06/2005 and 07/2012, 31 consecutive GO survivors underwent ND assessment using the BSID-III at a median of 24months (range 6-35). ND delay was defined by a score of ≤84 in any composite score. Severe impairments were defined as a score of ≤69 in at least one domain. ...Neurological impairments were present in more than half of GO survivors. Disease severity was associated with ND dysfunction. Autism and hypotonicity were often co-morbidities with ND delays and poor motor function." [[Neural System - Abnormalities]]
	\|}		\|}
	{\| class="wikitable mw-collapsible mw-collapsed"		{\| class="wikitable mw-collapsible mw-collapsed"
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	Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Abnormal+Development+Gastrointestinal+Tract ''Abnormal Development Gastrointestinal Tract'']		Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Abnormal+Development+Gastrointestinal+Tract ''Abnormal Development Gastrointestinal Tract'']
	\|}		\|}
			{\| class="wikitable mw-collapsible mw-collapsed"
			! Older papers
			\|-
			\| {{Older papers}}

			* '''Patient characteristics are important determinants of neurodevelopmental outcome during infancy in giant omphalocele'''{{#pmid:25676186\|PMID25676186}} "Between 06/2005 and 07/2012, 31 consecutive GO survivors underwent ND assessment using the BSID-III at a median of 24months (range 6-35). ND delay was defined by a score of ≤84 in any composite score. Severe impairments were defined as a score of ≤69 in at least one domain. ...Neurological impairments were present in more than half of GO survivors. Disease severity was associated with ND dysfunction. Autism and hypotonicity were often co-morbidities with ND delays and poor motor function." [[Neural System - Abnormalities]]
			\|}

	==Movies==		==Movies==

Z8600021 at 23:16, 6 November 2019

2019-11-06T23:16:41Z

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	This abnormality has been shown to be associated with {{TBX}}1 mutations that also include DiGeorge syndrome.{{#pmid:24356861\|PMID24356861}}		This abnormality has been shown to be associated with {{TBX}}1 mutations that also include DiGeorge syndrome.{{#pmid:24356861\|PMID24356861}} A recent study has also shown associated {{axial skeleton}} vertebral patterning abnormalities, with associated anomalies of cervical ribs.{{#pmid:31645054\|PMID31645054}}

	:'''Links:''' {{TBX}} \| [[2016_Group_Project_5\|Student Project - Di George syndrome]] \| [https://www.omim.org/entry/602054 OMIM - TBX1] \| [https://www.omim.org/entry/188400 OMIM - DiGeorge] \| [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=Oesophageal%20Atresia PubMed - Oesophageal Atresia]		:'''Links:''' {{TBX}} \| [[2016_Group_Project_5\|Student Project - Di George syndrome]] \| [https://www.omim.org/entry/602054 OMIM - TBX1] \| [https://www.omim.org/entry/188400 OMIM - DiGeorge] \| [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=Oesophageal%20Atresia PubMed - Oesophageal Atresia]

Z8600021 at 13:22, 1 Haziran 2019

2019-06-01T13:22:52Z

← Older revision		Revision as of 00:22, 2 Haziran 2019
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	===Reviews===		===Reviews===
			{{#pmid:26086457}}

	{{#pmid:20549505}}		{{#pmid:20549505}}

Z8600021 at 04:33, 5 Mayıs 2019

2019-05-05T04:33:16Z

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	The 1962 Waterston classification is a useful tool for predicting post-operative morbidity associated with independent risk factors such as; birth weight, cardiac anomalies, and pre-operative pneumonia.{{#pmid:28702694\|PMID28702694}} There are alternative prognostic classification systems.{{#pmid:30099582\|PMID30099582}} See also this {{oesophageal atresia}} review.{{#pmid:17498283\|PMID17498283}}		The 1962 Waterston classification is a useful tool for predicting post-operative morbidity associated with independent risk factors such as; birth weight, cardiac anomalies, and pre-operative pneumonia.{{#pmid:28702694\|PMID28702694}} There are alternative prognostic classification systems.{{#pmid:30099582\|PMID30099582}} See also this {{oesophageal atresia}} review.{{#pmid:17498283\|PMID17498283}}


			{\|
			\| [[File:Smith1957 fig01.jpg\|300px]]
			\| Vogt’s historic classification of atresia of the esophagus. Type I, atresia of entire esophagus. Type ll, atresia of a segment of the esophagus with defined upper and lower esophageal pouches. Type III, atresia of the esophagus with tracheoesophageal fistula: rz, fistula between the upper esophageal segment and the trachea; b, fistula between the lower esophageal segment and the trachea; c, fistulae between both esophageal segments and the trachea.<ref name=Smith1957>{{Ref-Smith1957}}</ref>
			\|}

	Atresia of oesophagus with tracheo-oesophageal fistula, Atresia of oesophagus with broncho-oesophageal fistula, OA/TOF)		Atresia of oesophagus with tracheo-oesophageal fistula, Atresia of oesophagus with broncho-oesophageal fistula, OA/TOF)


	This abnormality has been shown to be associated with {{~~Tbx~~}}1 mutations that also include DiGeorge syndrome.{{#pmid:24356861\|PMID24356861}}		This abnormality has been shown to be associated with {{TBX}}1 mutations that also include DiGeorge syndrome.{{#pmid:24356861\|PMID24356861}}

	:'''Links:''' {{TBX}} \| [[2016_Group_Project_5\|Student Project - Di George syndrome]] \| [https://www.omim.org/entry/602054 OMIM - TBX1] \| [https://www.omim.org/entry/188400 OMIM - DiGeorge] \| [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=Oesophageal%20Atresia PubMed - Oesophageal Atresia]		:'''Links:''' {{TBX}} \| [[2016_Group_Project_5\|Student Project - Di George syndrome]] \| [https://www.omim.org/entry/602054 OMIM - TBX1] \| [https://www.omim.org/entry/188400 OMIM - DiGeorge] \| [http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=Oesophageal%20Atresia PubMed - Oesophageal Atresia]

Z8600021 at 06:19, 17 April 2019

2019-04-17T06:19:57Z

← Older revision		Revision as of 17:19, 17 April 2019
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	! More recent papers		! More recent papers
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	\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}		\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}
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	'''Atresia''' is an interruption of the tube lumen, the abnormality naming is based upon the anatomical location.		* '''Atresia''' is an interruption of the tube lumen, the abnormality naming is based upon the anatomical location.

	'''Stenosis''' is a narrowing of the tube lumen, the abnormality naming is based upon the anatomical location.		* '''Stenosis''' is a narrowing of the tube lumen, the abnormality naming is based upon the anatomical location.

	'''Duplication''' is an incomplete recanalization resulting in parallel lumens, this is really a specialized form of stenosis.		*'''Duplication''' is an incomplete recanalization resulting in parallel lumens, this is really a specialized form of stenosis.


			* Pyloric atresia: The rarest type of congenital intestinal obstruction occurs in the pylorus, the opening between the stomach and the small intestine. Pyloric atresia occurs in approximately 1 in 1 million live births. Blockage of the pylorus due to a congenital atresia can be caused by a web or, in rare cases, the absence of the pylorus, resulting in a blind ending stomach and the lack of connection between the stomach and the duodenum.

			* Duodenal atresia: Duodenal atresia occurs in approximately 1 in 6,000 to 1 in 10,000 live births and is the most common congenital small bowel obstruction diagnosed prenatally. This type of atresia occurs in the duodenum, the first part of small intestine that is connected to stomach.

			* Jejunoileal atresia: The most common type of neonatal intestinal obstruction, jejunoileal atresia occurs in 1 in 1,000 to 1 in 3,000 live births. Two cases of jejunoileal atresia are reported for every one case of duodenal atresia. Jejunoileal atresia refers to a congenital bowel obstruction occurring in one of two different parts of the small bowel and thus may be further classified:

Z8600021 at 06:05, 17 April 2019

2019-04-17T06:05:53Z

← Older revision		Revision as of 17:05, 17 April 2019
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	! {{ICD-11}}		! {{ICD-11}}
	\|-bgcolor="FEF9E7"		\|-bgcolor="FEF9E7"
	\| {{ICD11weblink}1321492691 5C51 Inborn errors of carbohydrate metabolism] - {{ICD11weblink}}1462194012 '''5C51.4''' Disorders of galactose metabolism]		\| {{ICD11weblink}}1321492691 5C51 Inborn errors of carbohydrate metabolism] - {{ICD11weblink}}1462194012 '''5C51.4''' Disorders of galactose metabolism]
	:''Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.''		:''Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.''

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	{{ICD11weblink}182578312 5C52 Inborn errors of lipid metabolism]		{{ICD11weblink}}182578312 5C52 Inborn errors of lipid metabolism]

	{{ICD11weblink}266291267 5C53 Inborn errors of energy metabolism]		{{ICD11weblink}}266291267 5C53 Inborn errors of energy metabolism]

	{{ICD11weblink}85138870 5C54 Inborn errors of glycosylation or other specified protein modification] - Congenital Disorders of Glycosylation (CDG) syndromes are a group of glycoprotein synthesis disorders characterized by neurological manifestations that can be associated with multivisceral involvement. The CDG syndromes are associated with different enzymatic deficits.		{{ICD11weblink}}85138870 5C54 Inborn errors of glycosylation or other specified protein modification] - Congenital Disorders of Glycosylation (CDG) syndromes are a group of glycoprotein synthesis disorders characterized by neurological manifestations that can be associated with multivisceral involvement. The CDG syndromes are associated with different enzymatic deficits.

	{{ICD11weblink}575400186 5C55 Inborn errors of purine, pyrimidine or nucleotide metabolism]		{{ICD11weblink}}575400186 5C55 Inborn errors of purine, pyrimidine or nucleotide metabolism]

	{{ICD11weblink}656131403 5C56 Lysosomal diseases]		{{ICD11weblink}}656131403 5C56 Lysosomal diseases]

	{{ICD11weblink}782299726 5C57 Peroxisomal diseases] - Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.		{{ICD11weblink}782299726 5C57 Peroxisomal diseases] - Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.

	{{ICD11weblink}434825283 5C58 Inborn errors of porphyrin or heme metabolism]		{{ICD11weblink}}434825283 5C58 Inborn errors of porphyrin or heme metabolism]

	{{ICD11weblink}1062748595 5C59 Inborn errors of neurotransmitter metabolism]		{{ICD11weblink}}1062748595 5C59 Inborn errors of neurotransmitter metabolism]

	===5C5A Alpha-1-antitrypsin deficiency===		===5C5A Alpha-1-antitrypsin deficiency===
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	{{ICD-11}} {{ICD11weblink}824872160 5C5A Alpha-1-antitrypsin deficiency]		{{ICD-11}} {{ICD11weblink}}824872160 5C5A Alpha-1-antitrypsin deficiency]
	:''Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterized by low serum levels of AAT, the main protease inhibitor (PI) in human serum.''		:''Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterized by low serum levels of AAT, the main protease inhibitor (PI) in human serum.''
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	{{ICD-11 Gastrointestinal anomalies collapse table}}		{{ICD-11 Gastrointestinal anomalies collapse table}}


	== References ==		== References ==

Z8600021 at 23:22, 16 April 2019

2019-04-16T23:22:50Z

← Older revision		Revision as of 10:22, 17 April 2019
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	{{ICD-11}} {{ICD11weblink}}1255239964 BD92.0 Intestinal lymphangiectasia] - ''Intestinal lymphangiectasia is a pathologic dilation of lymph vessels of intestinal mucosa. This results in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy.''		{{ICD-11}} {{ICD11weblink}}1255239964 BD92.0 Intestinal lymphangiectasia] - ''Intestinal lymphangiectasia is a pathologic dilation of lymph vessels of intestinal mucosa. This results in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy.''

	[[File:Intestinal lymphangiectasia 01.jpg\|300px]]		{\|
			\| [[File:Intestinal lymphangiectasia 01.jpg\|300px]]
			\| Primary intestinal lymphangiectasia (Waldmann's disease{{#pmid:13782654\|PMID13782654}}) is a rare disorder generally diagnosed before 3 years of age.{{#pmid:18294365\|PMID18294365}}

	~~Primary intestinal lymphangiectasia (Waldmann's disease~~{{~~#pmid:13782654\|PMID13782654}}) is a rare disorder generally diagnosed before 3 years of age.{{#pmid:18294365\|PMID18294365~~}}		Duodenal biopsy histology showing markedly dilated lymphatic ducts {{PAS}}

			\|}