Matches in SemOpenAlex for { <https://semopenalex.org/work/W4220908899> ?p ?o ?g. }
Showing items 1 to 97 of
97
with 100 items per page.
- W4220908899 abstract "MRS/MFS is a rare multisystem disorder with a poor prognosis. The high mortality rate of this syndrome is related to the severity of the associated gastrointestinal, pancreatic, and hepatobiliary conditions, as most of them are not amenable to conventional medical and surgical treatments.We report the case of a Romani girl with all the key clinical features of MRS/MFS, and a review of cases reported in the literature. Our patient is a newborn from consanguineous parents who presented duodenal atresia, hypoplastic pancreas, gallbladder agenesis, and neonatal diabetes. Given the clinical suspicion of MRS/MFS, a genetic analysis was performed which revealed the presence of a homozygous variant in the RFX6 gene. During the course of the disease, the patient presented intractable secretory diarrhea and severe intestinal failure.At 2 years of age, she underwent MVT of the stomach, duodenum, small intestine, colon, liver, and pancreas. There were no surgical complications. Histologic evaluation of the small bowel showed extensive patches of gastric heterotopia. After more than 10 years of follow-up, she had presented with normal gastrointestinal, hepatic, and pancreatic function. She has one of the longest survival periods in the literature.Our experience suggests that multivisceral transplantation may be a promising option in select cases of MRS/MFS." @default.
- W4220908899 created "2022-04-03" @default.
- W4220908899 creator A5003587975 @default.
- W4220908899 creator A5003629891 @default.
- W4220908899 creator A5014942037 @default.
- W4220908899 creator A5015533425 @default.
- W4220908899 creator A5026787998 @default.
- W4220908899 creator A5030852324 @default.
- W4220908899 creator A5040395018 @default.
- W4220908899 creator A5055757660 @default.
- W4220908899 creator A5056743258 @default.
- W4220908899 creator A5060500765 @default.
- W4220908899 creator A5068839230 @default.
- W4220908899 date "2022-03-20" @default.
- W4220908899 modified "2023-09-26" @default.
- W4220908899 title "First multivisceral transplantation in Mitchell‐Riley/Martinez‐Frias syndrome" @default.
- W4220908899 cites W1592758085 @default.
- W4220908899 cites W1808329789 @default.
- W4220908899 cites W1991931176 @default.
- W4220908899 cites W1997127825 @default.
- W4220908899 cites W2000752903 @default.
- W4220908899 cites W2020893237 @default.
- W4220908899 cites W2027849238 @default.
- W4220908899 cites W2047716051 @default.
- W4220908899 cites W2068895509 @default.
- W4220908899 cites W2095506444 @default.
- W4220908899 cites W2108219272 @default.
- W4220908899 cites W2127824833 @default.
- W4220908899 cites W2234956262 @default.
- W4220908899 cites W2424513569 @default.
- W4220908899 cites W2511631655 @default.
- W4220908899 cites W2948116612 @default.
- W4220908899 cites W2967461993 @default.
- W4220908899 cites W3113384364 @default.
- W4220908899 doi "https://doi.org/10.1111/petr.14270" @default.
- W4220908899 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35307919" @default.
- W4220908899 hasPublicationYear "2022" @default.
- W4220908899 type Work @default.
- W4220908899 citedByCount "1" @default.
- W4220908899 countsByYear W42209088992022 @default.
- W4220908899 crossrefType "journal-article" @default.
- W4220908899 hasAuthorship W4220908899A5003587975 @default.
- W4220908899 hasAuthorship W4220908899A5003629891 @default.
- W4220908899 hasAuthorship W4220908899A5014942037 @default.
- W4220908899 hasAuthorship W4220908899A5015533425 @default.
- W4220908899 hasAuthorship W4220908899A5026787998 @default.
- W4220908899 hasAuthorship W4220908899A5030852324 @default.
- W4220908899 hasAuthorship W4220908899A5040395018 @default.
- W4220908899 hasAuthorship W4220908899A5055757660 @default.
- W4220908899 hasAuthorship W4220908899A5056743258 @default.
- W4220908899 hasAuthorship W4220908899A5060500765 @default.
- W4220908899 hasAuthorship W4220908899A5068839230 @default.
- W4220908899 hasConcept C126322002 @default.
- W4220908899 hasConcept C141071460 @default.
- W4220908899 hasConcept C2776778433 @default.
- W4220908899 hasConcept C2776809568 @default.
- W4220908899 hasConcept C2777148285 @default.
- W4220908899 hasConcept C2778549623 @default.
- W4220908899 hasConcept C2778764654 @default.
- W4220908899 hasConcept C2779309525 @default.
- W4220908899 hasConcept C2779609443 @default.
- W4220908899 hasConcept C2781149206 @default.
- W4220908899 hasConcept C2911091166 @default.
- W4220908899 hasConcept C71924100 @default.
- W4220908899 hasConcept C90924648 @default.
- W4220908899 hasConceptScore W4220908899C126322002 @default.
- W4220908899 hasConceptScore W4220908899C141071460 @default.
- W4220908899 hasConceptScore W4220908899C2776778433 @default.
- W4220908899 hasConceptScore W4220908899C2776809568 @default.
- W4220908899 hasConceptScore W4220908899C2777148285 @default.
- W4220908899 hasConceptScore W4220908899C2778549623 @default.
- W4220908899 hasConceptScore W4220908899C2778764654 @default.
- W4220908899 hasConceptScore W4220908899C2779309525 @default.
- W4220908899 hasConceptScore W4220908899C2779609443 @default.
- W4220908899 hasConceptScore W4220908899C2781149206 @default.
- W4220908899 hasConceptScore W4220908899C2911091166 @default.
- W4220908899 hasConceptScore W4220908899C71924100 @default.
- W4220908899 hasConceptScore W4220908899C90924648 @default.
- W4220908899 hasIssue "5" @default.
- W4220908899 hasLocation W42209088991 @default.
- W4220908899 hasLocation W42209088992 @default.
- W4220908899 hasOpenAccess W4220908899 @default.
- W4220908899 hasPrimaryLocation W42209088991 @default.
- W4220908899 hasRelatedWork W1965428289 @default.
- W4220908899 hasRelatedWork W1983186801 @default.
- W4220908899 hasRelatedWork W2176398930 @default.
- W4220908899 hasRelatedWork W2419506743 @default.
- W4220908899 hasRelatedWork W2530279318 @default.
- W4220908899 hasRelatedWork W2784086953 @default.
- W4220908899 hasRelatedWork W3029153900 @default.
- W4220908899 hasRelatedWork W3044029158 @default.
- W4220908899 hasRelatedWork W4236421796 @default.
- W4220908899 hasRelatedWork W4380902515 @default.
- W4220908899 hasVolume "26" @default.
- W4220908899 isParatext "false" @default.
- W4220908899 isRetracted "false" @default.
- W4220908899 workType "article" @default.