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Ileus

MedGen UID:
505288
Concept ID:
CN002357
Finding
 
HPO: HP:0002595

Definition

Acute obstruction of the intestines preventing passage of the contents of the intestines. [from HPO]

Conditions with this feature

Insulin-dependent diabetes mellitus secretory diarrhea syndrome
MedGen UID:
83339
Concept ID:
C0342288
Congenital Abnormality
IPEX (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) syndrome is characterized by systemic autoimmunity, typically beginning in the first year of life. Presentation is most commonly the clinical triad of watery diarrhea, eczematous dermatitis, and endocrinopathy (most commonly insulin-dependent diabetes mellitus). Most children have other autoimmune phenomena including Coombs-positive anemia, autoimmune thrombocytopenia, autoimmune neutropenia, and tubular nephropathy. Without aggressive immunosuppression or bone marrow transplantation, the majority of affected males die within the first one to two years of life from metabolic derangements or sepsis; a few with a milder phenotype have survived into the second or third decade of life.
Creatine deficiency, X-linked
MedGen UID:
337451
Concept ID:
C1845862
Disease or Syndrome
The cerebral creatine deficiency syndromes (CCDS), inborn errors of creatine metabolism, include the two creatine biosynthesis disorders, guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT or GATM) deficiency, and the creatine transporter (SLC6A8) deficiency. Intellectual disability and seizures are common to all three CCDS. The majority of individuals with GAMT deficiency have a behavior disorder that can include autistic behaviors and self-mutilation; a significant proportion have pyramidal/extrapyramidal findings. Onset is between ages three months and three years. Only seven individuals with AGAT deficiency have been reported. The phenotype of SLC6A8 deficiency in affected males ranges from mild intellectual disability and speech delay to severe intellectual disability, seizures, and behavior disorder; age at diagnosis ranges from two to 66 years. Females heterozygous for SLC6A8 deficiency may have learning and behavior problems.
Lipodystrophy, congenital generalized, type 4
MedGen UID:
412871
Concept ID:
C2750069
Disease or Syndrome
Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (608594) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009). For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594).

Recent clinical studies

Etiology

Fujii T, Sutoh T, Kigure W, Morita H, Katoh T, Yajima R, Tsutsumi S, Asao T, Kuwano H
Hepatogastroenterology 2015 Mar-Apr;62(138):283-5. PMID: 25916049
Stagnitti F, Tudisco A, Ceci F, Nicodemi S, Orsini S, Avallone M, Di Girolamo V, Stefanelli F, De Angelis F, Di Grazia C, Cipriani B, Aiuti F, Napoleoni A, Mosillo R, Corelli S, Casciaro G, Costantino A, Martellucci A, Spaziani E
G Chir 2014 Sep-Oct;35(9-10):235-8. PMID: 25419590Free PMC Article
Takahashi R, Akagi Y, Tanaka T, Kaibara A, Kajiwara S, Shima I, Taguchi J, Mizobe T, Kakuma T, Shirouzu K
BMC Surg 2014 Oct 16;14:79. doi: 10.1186/1471-2482-14-79. [Epub ahead of print] PMID: 25319494Free PMC Article
Vather R, O'Grady G, Bissett IP, Dinning PG
Clin Exp Pharmacol Physiol 2014 May;41(5):358-70. doi: 10.1111/1440-1681.12220. PMID: 24754527
Aslam J, Patel P, Odogwu S
BMJ Case Rep 2014 Apr 19;2014 doi: 10.1136/bcr-2013-203345. PMID: 24748139

Diagnosis

Fujii T, Sutoh T, Kigure W, Morita H, Katoh T, Yajima R, Tsutsumi S, Asao T, Kuwano H
Hepatogastroenterology 2015 Mar-Apr;62(138):283-5. PMID: 25916049
Stagnitti F, Tudisco A, Ceci F, Nicodemi S, Orsini S, Avallone M, Di Girolamo V, Stefanelli F, De Angelis F, Di Grazia C, Cipriani B, Aiuti F, Napoleoni A, Mosillo R, Corelli S, Casciaro G, Costantino A, Martellucci A, Spaziani E
G Chir 2014 Sep-Oct;35(9-10):235-8. PMID: 25419590Free PMC Article
Takahashi R, Akagi Y, Tanaka T, Kaibara A, Kajiwara S, Shima I, Taguchi J, Mizobe T, Kakuma T, Shirouzu K
BMC Surg 2014 Oct 16;14:79. doi: 10.1186/1471-2482-14-79. [Epub ahead of print] PMID: 25319494Free PMC Article
Aslam J, Patel P, Odogwu S
BMJ Case Rep 2014 Apr 19;2014 doi: 10.1136/bcr-2013-203345. PMID: 24748139
van Bree SH, Bemelman WA, Hollmann MW, Zwinderman AH, Matteoli G, El Temna S, The FO, Vlug MS, Bennink RJ, Boeckxstaens GE
Ann Surg 2014 Apr;259(4):708-14. doi: 10.1097/SLA.0b013e318293ee55. PMID: 23657087

Therapy

Fujii T, Sutoh T, Kigure W, Morita H, Katoh T, Yajima R, Tsutsumi S, Asao T, Kuwano H
Hepatogastroenterology 2015 Mar-Apr;62(138):283-5. PMID: 25916049
Takahashi R, Akagi Y, Tanaka T, Kaibara A, Kajiwara S, Shima I, Taguchi J, Mizobe T, Kakuma T, Shirouzu K
BMC Surg 2014 Oct 16;14:79. doi: 10.1186/1471-2482-14-79. [Epub ahead of print] PMID: 25319494Free PMC Article
Selden N, Shugarts S, Wu A, Lung D
J Clin Pharm Ther 2014 Dec;39(6):695-7. Epub 2014 Sep 9 doi: 10.1111/jcpt.12201. [Epub ahead of print] PMID: 25203699
Boelens PG, Heesakkers FF, Luyer MD, van Barneveld KW, de Hingh IH, Nieuwenhuijzen GA, Roos AN, Rutten HJ
Ann Surg 2014 Apr;259(4):649-55. doi: 10.1097/SLA.0000000000000288. PMID: 24169163
van Bree SH, Bemelman WA, Hollmann MW, Zwinderman AH, Matteoli G, El Temna S, The FO, Vlug MS, Bennink RJ, Boeckxstaens GE
Ann Surg 2014 Apr;259(4):708-14. doi: 10.1097/SLA.0b013e318293ee55. PMID: 23657087

Prognosis

Zybert K, Mierzejewska E, Sands D
Dev Period Med 2015 Jan-Mar;19(1):41-9. PMID: 26003069
Fujii T, Sutoh T, Kigure W, Morita H, Katoh T, Yajima R, Tsutsumi S, Asao T, Kuwano H
Hepatogastroenterology 2015 Mar-Apr;62(138):283-5. PMID: 25916049
Takahashi R, Akagi Y, Tanaka T, Kaibara A, Kajiwara S, Shima I, Taguchi J, Mizobe T, Kakuma T, Shirouzu K
BMC Surg 2014 Oct 16;14:79. doi: 10.1186/1471-2482-14-79. [Epub ahead of print] PMID: 25319494Free PMC Article
Inoue T, Ikeda Y, Ogawa E, Horikawa M, Inaba T, Fukushima R
Asian J Endosc Surg 2014 May;7(2):169-71. doi: 10.1111/ases.12095. PMID: 24754881
van Bree SH, Bemelman WA, Hollmann MW, Zwinderman AH, Matteoli G, El Temna S, The FO, Vlug MS, Bennink RJ, Boeckxstaens GE
Ann Surg 2014 Apr;259(4):708-14. doi: 10.1097/SLA.0b013e318293ee55. PMID: 23657087

Clinical prediction guides

Zybert K, Mierzejewska E, Sands D
Dev Period Med 2015 Jan-Mar;19(1):41-9. PMID: 26003069
Boczar M, Sawicka E, Zybert K
Dev Period Med 2015 Jan-Mar;19(1):32-40. PMID: 26003068
Fujii T, Sutoh T, Kigure W, Morita H, Katoh T, Yajima R, Tsutsumi S, Asao T, Kuwano H
Hepatogastroenterology 2015 Mar-Apr;62(138):283-5. PMID: 25916049
Takahashi R, Akagi Y, Tanaka T, Kaibara A, Kajiwara S, Shima I, Taguchi J, Mizobe T, Kakuma T, Shirouzu K
BMC Surg 2014 Oct 16;14:79. doi: 10.1186/1471-2482-14-79. [Epub ahead of print] PMID: 25319494Free PMC Article
van Bree SH, Bemelman WA, Hollmann MW, Zwinderman AH, Matteoli G, El Temna S, The FO, Vlug MS, Bennink RJ, Boeckxstaens GE
Ann Surg 2014 Apr;259(4):708-14. doi: 10.1097/SLA.0b013e318293ee55. PMID: 23657087

Recent systematic reviews

Wronski S
Nursing 2014 Aug;44(8):19-23. doi: 10.1097/01.NURSE.0000451535.63211.a8. PMID: 25025247
Craciunas L, Sajid MS, Ahmed AS
BJOG 2014 Jun;121(7):793-9; discussion 799. Epub 2014 Mar 14 doi: 10.1111/1471-0528.12696. [Epub ahead of print] PMID: 24628729
Li S, Liu Y, Peng Q, Xie L, Wang J, Qin X
J Gastroenterol Hepatol 2013 Jul;28(7):1122-32. doi: 10.1111/jgh.12206. PMID: 23551339
Vather R, Bissett I
ANZ J Surg 2013 May;83(5):319-24. Epub 2013 Feb 19 doi: 10.1111/ans.12102. [Epub ahead of print] PMID: 23418987
Vather R, Trivedi S, Bissett I
J Gastrointest Surg 2013 May;17(5):962-72. Epub 2013 Feb 2 doi: 10.1007/s11605-013-2148-y. [Epub ahead of print] PMID: 23377782

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