Wolfram syndrome. How much could knowledge challenge the fate? A case report
Wolfram syndrome (WS) is a rare, autosomic recessive genetic disorder. The mortality rate of WS is about 65% before 35 years of age. It presents diagnostic challenges in the clinical practice due to its incomplete characterization. This report represents the first case of undiagnosed Wolfram syndrom...
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| Veröffentlicht in: | Medical science monitor 2005-07, Vol.11 (7), p.CS40-CS44 |
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| container_title | Medical science monitor |
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| creator | Fabbri, Lea Paola Nucera, Maria Grippo, Antonello Menicucci, Adriana De Feo, Maria Laura Becchi, Chiara Al Malyan, Mohamed |
| description | Wolfram syndrome (WS) is a rare, autosomic recessive genetic disorder. The mortality rate of WS is about 65% before 35 years of age. It presents diagnostic challenges in the clinical practice due to its incomplete characterization. This report represents the first case of undiagnosed Wolfram syndrome in a patient over 53 years old.
A 53-year-old white woman developed a respiratory complication necessitating extended ICU care and respiratory rehabilitation. This respiratory complication proved to be a consequence of undiagnosed WS.
The report discusses the clinical elements that suggested the diagnosis, the problems related to the ICU management of this patient, in particular the weaning difficulties, and the need for rehabilitation. Finally, the report considers the ethical aspect of timely diagnosis on the course and outcome of WS. |
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A 53-year-old white woman developed a respiratory complication necessitating extended ICU care and respiratory rehabilitation. This respiratory complication proved to be a consequence of undiagnosed WS.
The report discusses the clinical elements that suggested the diagnosis, the problems related to the ICU management of this patient, in particular the weaning difficulties, and the need for rehabilitation. Finally, the report considers the ethical aspect of timely diagnosis on the course and outcome of WS.</description><identifier>ISSN: 1234-1010</identifier><identifier>PMID: 15990695</identifier><language>eng</language><publisher>United States</publisher><subject>Female ; Humans ; Middle Aged ; Pneumonia - etiology ; Respiratory Insufficiency - etiology ; Wolfram Syndrome - complications ; Wolfram Syndrome - diagnosis ; Wolfram Syndrome - genetics</subject><ispartof>Medical science monitor, 2005-07, Vol.11 (7), p.CS40-CS44</ispartof><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15990695$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Fabbri, Lea Paola</creatorcontrib><creatorcontrib>Nucera, Maria</creatorcontrib><creatorcontrib>Grippo, Antonello</creatorcontrib><creatorcontrib>Menicucci, Adriana</creatorcontrib><creatorcontrib>De Feo, Maria Laura</creatorcontrib><creatorcontrib>Becchi, Chiara</creatorcontrib><creatorcontrib>Al Malyan, Mohamed</creatorcontrib><title>Wolfram syndrome. How much could knowledge challenge the fate? A case report</title><title>Medical science monitor</title><addtitle>Med Sci Monit</addtitle><description>Wolfram syndrome (WS) is a rare, autosomic recessive genetic disorder. The mortality rate of WS is about 65% before 35 years of age. It presents diagnostic challenges in the clinical practice due to its incomplete characterization. This report represents the first case of undiagnosed Wolfram syndrome in a patient over 53 years old.
A 53-year-old white woman developed a respiratory complication necessitating extended ICU care and respiratory rehabilitation. This respiratory complication proved to be a consequence of undiagnosed WS.
The report discusses the clinical elements that suggested the diagnosis, the problems related to the ICU management of this patient, in particular the weaning difficulties, and the need for rehabilitation. Finally, the report considers the ethical aspect of timely diagnosis on the course and outcome of WS.</description><subject>Female</subject><subject>Humans</subject><subject>Middle Aged</subject><subject>Pneumonia - etiology</subject><subject>Respiratory Insufficiency - etiology</subject><subject>Wolfram Syndrome - complications</subject><subject>Wolfram Syndrome - diagnosis</subject><subject>Wolfram Syndrome - genetics</subject><issn>1234-1010</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1j0FLwzAYhnNQ3Jz-BcnJWyVplzQ5yRjqhIIXxWP5knxx07SpScvYv3eweXrew8MLzwWZ87JaFpxxNiPXOX8zVirJxBWZcaE1k1rMSfMZg0_Q0XzoXYodPtBN3NNusltq4xQc_enjPqD7Qmq3EAL2xzVukXoY8ZGuqIWMNOEQ03hDLj2EjLdnLsjH89P7elM0by-v61VTDCXTY1HVxilp_VJJ5XRlQQteAcgSkQnjGVeWG-OVAQVci5pr5jzTvi6tADSiWpD70--Q4u-EeWy7XbYYAvQYp9zKWutScn4U787iZDp07ZB2HaRD-99f_QHklFXr</recordid><startdate>200507</startdate><enddate>200507</enddate><creator>Fabbri, Lea Paola</creator><creator>Nucera, Maria</creator><creator>Grippo, Antonello</creator><creator>Menicucci, Adriana</creator><creator>De Feo, Maria Laura</creator><creator>Becchi, Chiara</creator><creator>Al Malyan, Mohamed</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>200507</creationdate><title>Wolfram syndrome. How much could knowledge challenge the fate? A case report</title><author>Fabbri, Lea Paola ; Nucera, Maria ; Grippo, Antonello ; Menicucci, Adriana ; De Feo, Maria Laura ; Becchi, Chiara ; Al Malyan, Mohamed</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p209t-37bd86cf4868d93ca9513aa62ee05bf018c1bbf8ba8a1957190df09f72c5aeb53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Female</topic><topic>Humans</topic><topic>Middle Aged</topic><topic>Pneumonia - etiology</topic><topic>Respiratory Insufficiency - etiology</topic><topic>Wolfram Syndrome - complications</topic><topic>Wolfram Syndrome - diagnosis</topic><topic>Wolfram Syndrome - genetics</topic><toplevel>online_resources</toplevel><creatorcontrib>Fabbri, Lea Paola</creatorcontrib><creatorcontrib>Nucera, Maria</creatorcontrib><creatorcontrib>Grippo, Antonello</creatorcontrib><creatorcontrib>Menicucci, Adriana</creatorcontrib><creatorcontrib>De Feo, Maria Laura</creatorcontrib><creatorcontrib>Becchi, Chiara</creatorcontrib><creatorcontrib>Al Malyan, Mohamed</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Medical science monitor</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fabbri, Lea Paola</au><au>Nucera, Maria</au><au>Grippo, Antonello</au><au>Menicucci, Adriana</au><au>De Feo, Maria Laura</au><au>Becchi, Chiara</au><au>Al Malyan, Mohamed</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Wolfram syndrome. How much could knowledge challenge the fate? A case report</atitle><jtitle>Medical science monitor</jtitle><addtitle>Med Sci Monit</addtitle><date>2005-07</date><risdate>2005</risdate><volume>11</volume><issue>7</issue><spage>CS40</spage><epage>CS44</epage><pages>CS40-CS44</pages><issn>1234-1010</issn><abstract>Wolfram syndrome (WS) is a rare, autosomic recessive genetic disorder. The mortality rate of WS is about 65% before 35 years of age. It presents diagnostic challenges in the clinical practice due to its incomplete characterization. This report represents the first case of undiagnosed Wolfram syndrome in a patient over 53 years old.
A 53-year-old white woman developed a respiratory complication necessitating extended ICU care and respiratory rehabilitation. This respiratory complication proved to be a consequence of undiagnosed WS.
The report discusses the clinical elements that suggested the diagnosis, the problems related to the ICU management of this patient, in particular the weaning difficulties, and the need for rehabilitation. Finally, the report considers the ethical aspect of timely diagnosis on the course and outcome of WS.</abstract><cop>United States</cop><pmid>15990695</pmid></addata></record> |
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| ispartof | Medical science monitor, 2005-07, Vol.11 (7), p.CS40-CS44 |
| issn | 1234-1010 |
| language | eng |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Female Humans Middle Aged Pneumonia - etiology Respiratory Insufficiency - etiology Wolfram Syndrome - complications Wolfram Syndrome - diagnosis Wolfram Syndrome - genetics |
| title | Wolfram syndrome. How much could knowledge challenge the fate? A case report |
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