Syndromic diarrhea/trichohepatoenteric syndrome (SD/THE), a rare disorder caused by alteration of a complex involved in RNA degradation, has been reported to present with some degree of colitis and in some cases an IBD-like presentation. [ncbi.nlm.nih.gov]

All seven patients were homozygous for this mutation and presented the typical clinical features of SD/THE, but with a milder presentation than usual. All seven patients were alive at the last follow‐up. [onlinelibrary.wiley.com]

Patients present with facial dysmorphism including prominent forehead and cheeks, broad nasal root and hypertelorism. [orpha.net]

• Diarrhea

  Abstract Tricho‐hepato‐enteric syndrome and syndromic diarrhea are quite rare conditions with only 15 patients described to date. [doi.org]

  Tricho-hepato-enteric syndrome and syndromic diarrhea are quite rare conditions with only 15 patients described to date. [ncbi.nlm.nih.gov]

  Other Names for This Condition Diarrhea, fatal infantile, with trichorrhexis nodosa Diarrhea, syndromic Intractable diarrhea with phenotypic anomalies Phenotypic diarrhea of infancy SD/THE Syndromic diarrhea THE syndrome THES Tricho-hepato-enteric syndrome [medlineplus.gov]

  Oligoclonalgammopathy in phenotypic diarrhea. J Pediatr Gastroenterol Nutr. 2000;30:349-50. Landers MC, Schroeder TL. Intractable diarrhea of infancy with facial dysmorphism, trichorrhe xisnodosa, and cirrhosis. Pediatr Dermatol. 2003;20:432-5. [ijpediatrics.com]

• Blood in Stool

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• Jaundice

  Clinical course was marked by intractable diarrhoea, with normal histological and enzymological studies, cholestatic jaundice, hepatomegaly appearing after 30 days, and progressive liver failure, leading to death after a few months. [ncbi.nlm.nih.gov]

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• Erythema

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• Prominent Cheeks

  His physical examination demonstrated the following: Body weight, 6,500 g (<3rd centile); height, 71 cm (<3rd centile); poorly pigmented wooly hair; facial dysmorphism, including squared forehead, prominent cheeks, a broad nasal root and hypertelorism [spandidos-publications.com]

Early diagnosis would save patients from unnecessary workups. 1. [hindawi.com]

The immunological workup included analyses of lymphocyte populations with T- and B-cell-specific antibodies, lymphocyte markers, blastogenesis, and immunoglobulin levels. [saudijgastro.com]

By contrast, lipid-containing macrophages are present in the lamina propria in several storage disorders in which digestive symptoms can occasionally be significant and in which an intestinal biopsy is obtained in the course of a workup for failure to [clinicalgate.com]

All the therapeutic classes of IBD treatment (mesalazine, steroids, immunomodulators, and biological therapy) were used in the 6 cases. In 2 patients, treatment had no effect. [ncbi.nlm.nih.gov]

Reference is easy thanks to a unique 3-part structure covering general aspects of treatment; reviews of every agent; and details of treatments of particular infections. [books.google.de]

Dhawan Karger Medical and Scientific Publishers, 7 May 2012 - Medical - 274 pages Great progress in molecular biology, therapeutics, imaging as well as surgery have vastly improved the understanding and treatment of childhood liver disorders. [books.google.com]

Prognosis Prognosis is poor with a mortality rate of up to 50%. The main complications are severe liver disease and infections. [orpha.net]

Prognosis - Tricho-hepato-enteric syndrome Prognosis is poor; many patients die before the age of 5 (mainly from infections or cirrhosis), although most patients nowadays survive with intravenous feeding (parenteral nutrition). [checkorphan.org]

The prognosis depends on the management and is largely related to the occurrence of parenteral nutrition complications or infections. Even with optimal management, most of the children seem to experience failure to thrive and final short stature. [hal.inserm.fr]

Moreover we are yet far from developing a way to control the etiology in many cases. Trichoenterohepatic syndrome was first described by Stankler et al. in 1982 [2]. [hindawi.com]

Etiology Autosomal recessive mutations in SKIV2L (40% of cases) and TTC37 (60% of cases) lead to SD/THE. These genes encode proteins that form the Ski complex, a group of proteins responsible for the 3'-5' degradation of aberrant mRNA. [orpha.net]

In all patients, the diarrhea did not improve with fasting, and investigations including blood, urine, and stool tests did not reveal any specific etiology. Gastrointestinal biopsies were obtained from six patients. [saudijgastro.com]

Of Travellers Diarrhea Rethinking Prevention Travelers Diarrhea In Thailand A Quantitative Analysis Using Vien Sot Ret Ky Sinh Trung Con Trung Quy Nhon Keratoderma Blennorrhagica As A Result Of Reactive Arthritis Amebiasis Background Pathophysiology Etiology [solherbsrecipe.blogspot.com]

To date, no epidemiological data are available. The estimated prevalence is approximately 1/300,000-400,000 live births in Western Europe. Ethnic origin does not appear to be associated with SD. [ncbi.nlm.nih.gov]

Monography in Spanish | LILACS, MINSAPERU | ID: biblio-1181825 Responsible library: PE18.1 Localization: [{"text": "PE18.1", "_a": "MS/OGE 0190"}] Full text: Available Index: LILACS (Americas) Main subject: Vipoma / Diarrhea, Infantile / Epidemiological [pesquisa.bvsalud.org]

His career has focused on spatial and temporal aspects of infectious disease epidemiology to support the more rational implementation of disease control and intervention strategies. [simonhay.well.ox.ac.uk]

Summary Epidemiology Prevalence is Clinical description Severe, persistent and intractable diarrhea most often starts within the first month after birth (at latest 6 months) and is accompanied by severe malabsorption resulting in early and relentless [orpha.net]

Conclusion Traditional epidemiologic methods for hospital infection surveillance result in systematic undercounting, thereby providing precision without accuracy. [infectioncontrol.tips]

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Practical Management Of Travellers Diarrhea Rethinking Prevention Travelers Diarrhea In Thailand A Quantitative Analysis Using Vien Sot Ret Ky Sinh Trung Con Trung Quy Nhon Keratoderma Blennorrhagica As A Result Of Reactive Arthritis Amebiasis Background Pathophysiology [solherbsrecipe.blogspot.com]

Can diarrhea be prevented? Two types of diarrhea can be prevented - rotavirus diarrhea and traveler's diarrhea. There are vaccines for rotavirus. They are given to babies in two or three doses. [medlineplus.gov]

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Prevention - Tricho-hepato-enteric syndrome Not supplied. [checkorphan.org]

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Case status was not associated with whether or how patients received prevention messages. [ajph.aphapublications.org]