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Country as the primary risk factor for renal amyloidosis in familial mediterranean fever

Identifieur interne : 009661 ( Main/Exploration ); précédent : 009660; suivant : 009662

Country as the primary risk factor for renal amyloidosis in familial mediterranean fever

Auteurs : Isabelle Touitou [France] ; Tamara Sarkisian [Arménie] ; Myrna Medlej-Hashim [Liban] ; Mehmet Tunca [Turquie] ; Avi Livneh [Israël] ; Daniel Cattan [France] ; Fatos Yalcinkaya [Turquie] ; Seza Ozen [Turquie] ; Hassan Majeed [Jordanie] ; Huri Ozdogan [Turquie] ; Daniel Kastner [États-Unis] ; David Booth [Australie] ; Eldad Ben-Chetrit [Israël] ; Denis Pugnere [France] ; Cécile Michelon [France] ; Fabienne Seguret [France] ; Ruth Gershoni-Baruch [Israël]

Source :

RBID : Pascal:07-0265108

Descripteurs français

English descriptors

Abstract

Objective. Familial Mediterranean fever (FMF), the prototype of autoinflammatory disorders, is caused by recessive mutations in the MEFV gene. Some FMF patients develop renal amyloidosis, a potentially fatal condition. This complication has mainly been associated with the M694V mutation, although the different study designs, small numbers of patients, and/or evaluation of few or no covariables calls this association into question. The aim of this study was to examine the controversial issue of amyloidosis susceptibility in FMF by determining the relative contributions of MEFV and numerous epidemiologic factors to the risk of renal amyloidosis. Methods. Online questionnaires were completed at the MetaFMF database by patients at 35 centers in 14 countries. Using a standardized mode of data collection, we retrieved crude initial data from over half of the genetically confirmed FMF patients referred worldwide until May 2003 (2,482 cases, including 260 patients who developed renal amyloidosis). Results. Amyloid nephropathy was present in 11.4% of the cases. In the total study population, country of recruitment was the leading risk factor for this manifestation (odds ratio 3.2 [95% confidence interval 1.8-5.9]), followed by M694V homozygosity, proband status, and disease duration. Differing results were found when countries were stratified. Conclusion. Country of recruitment, rather than MEFV genotype, is the key risk factor for renal amyloidosis in FMF. This risk, which parallels infant mortality rates, indicates a possible environmental origin of amyloidosis susceptibility. The patient's country should be considered in addition to MEFV genotype as an indication for prophylactic colchicine, a treatment suggested for asymptomatic individuals who are incidentally discovered to be M694V homozygous.


Affiliations:


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Le document en format XML

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<country>Israël</country>
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<name sortKey="Ozen, Seza" sort="Ozen, Seza" uniqKey="Ozen S" first="Seza" last="Ozen">Seza Ozen</name>
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<country>Turquie</country>
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<name sortKey="Majeed, Hassan" sort="Majeed, Hassan" uniqKey="Majeed H" first="Hassan" last="Majeed">Hassan Majeed</name>
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<name sortKey="Ozdogan, Huri" sort="Ozdogan, Huri" uniqKey="Ozdogan H" first="Huri" last="Ozdogan">Huri Ozdogan</name>
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<name sortKey="Kastner, Daniel" sort="Kastner, Daniel" uniqKey="Kastner D" first="Daniel" last="Kastner">Daniel Kastner</name>
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<placeName>
<region type="state">Maryland</region>
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<name sortKey="Ben Chetrit, Eldad" sort="Ben Chetrit, Eldad" uniqKey="Ben Chetrit E" first="Eldad" last="Ben-Chetrit">Eldad Ben-Chetrit</name>
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<s1>Hadassah Hospital</s1>
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<country>Israël</country>
<wicri:noRegion>Hadassah Hospital</wicri:noRegion>
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<name sortKey="Pugnere, Denis" sort="Pugnere, Denis" uniqKey="Pugnere D" first="Denis" last="Pugnere">Denis Pugnere</name>
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<country>France</country>
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<name sortKey="Michelon, Cecile" sort="Michelon, Cecile" uniqKey="Michelon C" first="Cécile" last="Michelon">Cécile Michelon</name>
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<s1>Hôpital Arnaud de Villeneuve</s1>
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<region type="region">Occitanie (région administrative)</region>
<region type="old region">Languedoc-Roussillon</region>
<settlement type="city">Montpellier</settlement>
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<name sortKey="Seguret, Fabienne" sort="Seguret, Fabienne" uniqKey="Seguret F" first="Fabienne" last="Seguret">Fabienne Seguret</name>
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<s1>Hôpital Arnaud de Villeneuve</s1>
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<sZ>1 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName>
<region type="region">Occitanie (région administrative)</region>
<region type="old region">Languedoc-Roussillon</region>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
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<name sortKey="Gershoni Baruch, Ruth" sort="Gershoni Baruch, Ruth" uniqKey="Gershoni Baruch R" first="Ruth" last="Gershoni-Baruch">Ruth Gershoni-Baruch</name>
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<s1>Rambam Medical Center</s1>
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<country>Israël</country>
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<title xml:lang="en" level="a">Country as the primary risk factor for renal amyloidosis in familial mediterranean fever</title>
<author>
<name sortKey="Touitou, Isabelle" sort="Touitou, Isabelle" uniqKey="Touitou I" first="Isabelle" last="Touitou">Isabelle Touitou</name>
<affiliation wicri:level="3">
<inist:fA14 i1="01">
<s1>Hôpital Arnaud de Villeneuve</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName>
<region type="region">Occitanie (région administrative)</region>
<region type="old region">Languedoc-Roussillon</region>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Sarkisian, Tamara" sort="Sarkisian, Tamara" uniqKey="Sarkisian T" first="Tamara" last="Sarkisian">Tamara Sarkisian</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Center of Medical Genetics, National Academy of Sciences</s1>
<s2>Yerevan</s2>
<s3>ARM</s3>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>Arménie</country>
<wicri:noRegion>Yerevan</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Medlej Hashim, Myrna" sort="Medlej Hashim, Myrna" uniqKey="Medlej Hashim M" first="Myrna" last="Medlej-Hashim">Myrna Medlej-Hashim</name>
<affiliation wicri:level="1">
<inist:fA14 i1="03">
<s1>St. Joseph University</s1>
<s2>Beirut</s2>
<s3>LBN</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Liban</country>
<wicri:noRegion>St. Joseph University</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Tunca, Mehmet" sort="Tunca, Mehmet" uniqKey="Tunca M" first="Mehmet" last="Tunca">Mehmet Tunca</name>
<affiliation wicri:level="1">
<inist:fA14 i1="04">
<s1>Dokuz Eylul University</s1>
<s2>Izmir</s2>
<s3>TUR</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Turquie</country>
<wicri:noRegion>Dokuz Eylul University</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Livneh, Avi" sort="Livneh, Avi" uniqKey="Livneh A" first="Avi" last="Livneh">Avi Livneh</name>
<affiliation wicri:level="1">
<inist:fA14 i1="05">
<s1>Sheba Medical Center</s1>
<s2>Ramat Gan</s2>
<s3>ISR</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Israël</country>
<wicri:noRegion>Sheba Medical Center</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Cattan, Daniel" sort="Cattan, Daniel" uniqKey="Cattan D" first="Daniel" last="Cattan">Daniel Cattan</name>
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<s1>Centre Hospitalier Villeneuve Saint Georges</s1>
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</inist:fA14>
<country>France</country>
<wicri:noRegion>Villeneuve Saint Georges</wicri:noRegion>
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<wicri:noRegion>Centre Hospitalier Villeneuve Saint Georges</wicri:noRegion>
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<name sortKey="Yalcinkaya, Fatos" sort="Yalcinkaya, Fatos" uniqKey="Yalcinkaya F" first="Fatos" last="Yalcinkaya">Fatos Yalcinkaya</name>
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<s1>Ankara University Medical School</s1>
<s2>Ankara</s2>
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</inist:fA14>
<country>Turquie</country>
<wicri:noRegion>Ankara University Medical School</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Ozen, Seza" sort="Ozen, Seza" uniqKey="Ozen S" first="Seza" last="Ozen">Seza Ozen</name>
<affiliation wicri:level="1">
<inist:fA14 i1="08">
<s1>Hacettepe University</s1>
<s2>Ankara</s2>
<s3>TUR</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Turquie</country>
<wicri:noRegion>Hacettepe University</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Majeed, Hassan" sort="Majeed, Hassan" uniqKey="Majeed H" first="Hassan" last="Majeed">Hassan Majeed</name>
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<s1>Jordan University of Science and Technology</s1>
<s2>Amman</s2>
<s3>JOR</s3>
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</inist:fA14>
<country>Jordanie</country>
<wicri:noRegion>Jordan University of Science and Technology</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Ozdogan, Huri" sort="Ozdogan, Huri" uniqKey="Ozdogan H" first="Huri" last="Ozdogan">Huri Ozdogan</name>
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<s1>Istanbul University, Cerrahpasa Medical Faculty</s1>
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<country>Turquie</country>
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<name sortKey="Kastner, Daniel" sort="Kastner, Daniel" uniqKey="Kastner D" first="Daniel" last="Kastner">Daniel Kastner</name>
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</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">Maryland</region>
</placeName>
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<author>
<name sortKey="Booth, David" sort="Booth, David" uniqKey="Booth D" first="David" last="Booth">David Booth</name>
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<inist:fA14 i1="12">
<s1>Westmead Millennium Institute</s1>
<s2>Sydney, New South Wales</s2>
<s3>AUS</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Westmead Millennium Institute</wicri:noRegion>
</affiliation>
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<author>
<name sortKey="Ben Chetrit, Eldad" sort="Ben Chetrit, Eldad" uniqKey="Ben Chetrit E" first="Eldad" last="Ben-Chetrit">Eldad Ben-Chetrit</name>
<affiliation wicri:level="1">
<inist:fA14 i1="13">
<s1>Hadassah Hospital</s1>
<s2>Jerusalem</s2>
<s3>ISR</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Israël</country>
<wicri:noRegion>Hadassah Hospital</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Pugnere, Denis" sort="Pugnere, Denis" uniqKey="Pugnere D" first="Denis" last="Pugnere">Denis Pugnere</name>
<affiliation wicri:level="3">
<inist:fA14 i1="01">
<s1>Hôpital Arnaud de Villeneuve</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName>
<region type="region">Occitanie (région administrative)</region>
<region type="old region">Languedoc-Roussillon</region>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Michelon, Cecile" sort="Michelon, Cecile" uniqKey="Michelon C" first="Cécile" last="Michelon">Cécile Michelon</name>
<affiliation wicri:level="3">
<inist:fA14 i1="01">
<s1>Hôpital Arnaud de Villeneuve</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName>
<region type="region">Occitanie (région administrative)</region>
<region type="old region">Languedoc-Roussillon</region>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Seguret, Fabienne" sort="Seguret, Fabienne" uniqKey="Seguret F" first="Fabienne" last="Seguret">Fabienne Seguret</name>
<affiliation wicri:level="3">
<inist:fA14 i1="01">
<s1>Hôpital Arnaud de Villeneuve</s1>
<s2>Montpellier</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName>
<region type="region">Occitanie (région administrative)</region>
<region type="old region">Languedoc-Roussillon</region>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Gershoni Baruch, Ruth" sort="Gershoni Baruch, Ruth" uniqKey="Gershoni Baruch R" first="Ruth" last="Gershoni-Baruch">Ruth Gershoni-Baruch</name>
<affiliation wicri:level="1">
<inist:fA14 i1="14">
<s1>Rambam Medical Center</s1>
<s2>Haifa</s2>
<s3>ISR</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>Israël</country>
<wicri:noRegion>Rambam Medical Center</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series>
<title level="j" type="main">Arthritis and rheumatism</title>
<title level="j" type="abbreviated">Arthritis rheum.</title>
<idno type="ISSN">0004-3591</idno>
<imprint>
<date when="2007">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt>
<title level="j" type="main">Arthritis and rheumatism</title>
<title level="j" type="abbreviated">Arthritis rheum.</title>
<idno type="ISSN">0004-3591</idno>
</seriesStmt>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Amyloidosis</term>
<term>Colchicine</term>
<term>Familial mediterranean fever</term>
<term>Familial recurrent polyseritis</term>
<term>Hypouricemic agent</term>
<term>Kidney</term>
<term>Nephropathy</term>
<term>Protein</term>
<term>Rheumatology</term>
<term>Risk factor</term>
<term>Treatment</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr">
<term>Polysérite familiale récidivante</term>
<term>Néphropathie</term>
<term>Colchicine</term>
<term>Facteur risque</term>
<term>Rein</term>
<term>Amyloïdose</term>
<term>Traitement</term>
<term>Rhumatologie</term>
<term>Protéine</term>
<term>Hypouricémiant</term>
<term>Fièvre méditerranéenne familiale</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">Objective. Familial Mediterranean fever (FMF), the prototype of autoinflammatory disorders, is caused by recessive mutations in the MEFV gene. Some FMF patients develop renal amyloidosis, a potentially fatal condition. This complication has mainly been associated with the M694V mutation, although the different study designs, small numbers of patients, and/or evaluation of few or no covariables calls this association into question. The aim of this study was to examine the controversial issue of amyloidosis susceptibility in FMF by determining the relative contributions of MEFV and numerous epidemiologic factors to the risk of renal amyloidosis. Methods. Online questionnaires were completed at the MetaFMF database by patients at 35 centers in 14 countries. Using a standardized mode of data collection, we retrieved crude initial data from over half of the genetically confirmed FMF patients referred worldwide until May 2003 (2,482 cases, including 260 patients who developed renal amyloidosis). Results. Amyloid nephropathy was present in 11.4% of the cases. In the total study population, country of recruitment was the leading risk factor for this manifestation (odds ratio 3.2 [95% confidence interval 1.8-5.9]), followed by M694V homozygosity, proband status, and disease duration. Differing results were found when countries were stratified. Conclusion. Country of recruitment, rather than MEFV genotype, is the key risk factor for renal amyloidosis in FMF. This risk, which parallels infant mortality rates, indicates a possible environmental origin of amyloidosis susceptibility. The patient's country should be considered in addition to MEFV genotype as an indication for prophylactic colchicine, a treatment suggested for asymptomatic individuals who are incidentally discovered to be M694V homozygous.</div>
</front>
</TEI>
<affiliations>
<list>
<country>
<li>Arménie</li>
<li>Australie</li>
<li>France</li>
<li>Israël</li>
<li>Jordanie</li>
<li>Liban</li>
<li>Turquie</li>
<li>États-Unis</li>
</country>
<region>
<li>Languedoc-Roussillon</li>
<li>Maryland</li>
<li>Occitanie (région administrative)</li>
</region>
<settlement>
<li>Montpellier</li>
</settlement>
</list>
<tree>
<country name="France">
<region name="Occitanie (région administrative)">
<name sortKey="Touitou, Isabelle" sort="Touitou, Isabelle" uniqKey="Touitou I" first="Isabelle" last="Touitou">Isabelle Touitou</name>
</region>
<name sortKey="Cattan, Daniel" sort="Cattan, Daniel" uniqKey="Cattan D" first="Daniel" last="Cattan">Daniel Cattan</name>
<name sortKey="Michelon, Cecile" sort="Michelon, Cecile" uniqKey="Michelon C" first="Cécile" last="Michelon">Cécile Michelon</name>
<name sortKey="Pugnere, Denis" sort="Pugnere, Denis" uniqKey="Pugnere D" first="Denis" last="Pugnere">Denis Pugnere</name>
<name sortKey="Seguret, Fabienne" sort="Seguret, Fabienne" uniqKey="Seguret F" first="Fabienne" last="Seguret">Fabienne Seguret</name>
</country>
<country name="Arménie">
<noRegion>
<name sortKey="Sarkisian, Tamara" sort="Sarkisian, Tamara" uniqKey="Sarkisian T" first="Tamara" last="Sarkisian">Tamara Sarkisian</name>
</noRegion>
</country>
<country name="Liban">
<noRegion>
<name sortKey="Medlej Hashim, Myrna" sort="Medlej Hashim, Myrna" uniqKey="Medlej Hashim M" first="Myrna" last="Medlej-Hashim">Myrna Medlej-Hashim</name>
</noRegion>
</country>
<country name="Turquie">
<noRegion>
<name sortKey="Tunca, Mehmet" sort="Tunca, Mehmet" uniqKey="Tunca M" first="Mehmet" last="Tunca">Mehmet Tunca</name>
</noRegion>
<name sortKey="Ozdogan, Huri" sort="Ozdogan, Huri" uniqKey="Ozdogan H" first="Huri" last="Ozdogan">Huri Ozdogan</name>
<name sortKey="Ozen, Seza" sort="Ozen, Seza" uniqKey="Ozen S" first="Seza" last="Ozen">Seza Ozen</name>
<name sortKey="Yalcinkaya, Fatos" sort="Yalcinkaya, Fatos" uniqKey="Yalcinkaya F" first="Fatos" last="Yalcinkaya">Fatos Yalcinkaya</name>
</country>
<country name="Israël">
<noRegion>
<name sortKey="Livneh, Avi" sort="Livneh, Avi" uniqKey="Livneh A" first="Avi" last="Livneh">Avi Livneh</name>
</noRegion>
<name sortKey="Ben Chetrit, Eldad" sort="Ben Chetrit, Eldad" uniqKey="Ben Chetrit E" first="Eldad" last="Ben-Chetrit">Eldad Ben-Chetrit</name>
<name sortKey="Gershoni Baruch, Ruth" sort="Gershoni Baruch, Ruth" uniqKey="Gershoni Baruch R" first="Ruth" last="Gershoni-Baruch">Ruth Gershoni-Baruch</name>
</country>
<country name="Jordanie">
<noRegion>
<name sortKey="Majeed, Hassan" sort="Majeed, Hassan" uniqKey="Majeed H" first="Hassan" last="Majeed">Hassan Majeed</name>
</noRegion>
</country>
<country name="États-Unis">
<region name="Maryland">
<name sortKey="Kastner, Daniel" sort="Kastner, Daniel" uniqKey="Kastner D" first="Daniel" last="Kastner">Daniel Kastner</name>
</region>
</country>
<country name="Australie">
<noRegion>
<name sortKey="Booth, David" sort="Booth, David" uniqKey="Booth D" first="David" last="Booth">David Booth</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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