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Josep M. GrauGrup de Recerca MuscularBarcelona, September 2010
1.
Supported
by Generalitat de Catalunya:2000-01 (ref. 279/01)2001-2005 (ref. 379/01) 2005-2008 (ref. 300/05) 2009-2013 (ref. 1158/09)
2. Members15 (8 men) 5 predoc
fellows, 2 technicians, 7 MD-PhD,
1Biologist3.
Production
(2006-09)
6 competitive
research
projects102 original articles19 reviews34 book
chapters
148 Congress
Communications (100 International)
GRUP DE RECERCA MUSCULAR
1.
RESEARCH FIELDS:1.
Skeletal
and
cardiac
muscle
involvement
in
alcoholism2.
Mediterranean
diet
(red wine, nuts, olive
oil…)3.
Chronic
fatigue syndrome
4.
Mitochondrial
disfunctions
(CIBERER)1.
Primary: MELAS, MERFF..
2.
Secondary: antiretrovirals, linezolid, tobacco..5. Rare
Diseases
(from
pediatrics
to
adults..)
6. Adult
Myopathies
and
Neuropathies (inflammatory, vasculitis…)
GRUP DE RECERCA MUSCULAR
Dosi
total acumulada
de etanol
(Kg/Kg)
Frac
ció
d’ej
ecci
ó(%
) Relació
inversa entre:
Dosi
total consumida d’alcohol(Kg
ETOH/Kg
pes
corporal) amb:
-FE ventricular esquerre-Fracció
d’
escurçament
-Massa ventricularDintell
de 25 Kg
EtoH/Kg
pes
EFECTE DOSI-DEPENDENT DEL CONSUM D’EtOH sobre la FUNCIÓ SISTÒLICA VENTRICULARUrbano-Márquez et al. N Engl J Med 1989;320:409
Alcoholic
CMP Women
vs. menMUJERES HOMBRES Sig
•
Fracción Eyección (VIzdo) (%) 36 + 13 31+ 12 N.S.•
Fracción Acortamiento V Izdo(%) 15 + 8 11 + 3 N.S.
•
Diámetro telediastólico VI(mm/m2) 36 + 8 39 + 6 N.S. •
Diámetro telesistólico V I (mm/m2) 28 + 10 32 + 6 N.S.
•
Consumo diario de etanol (g) 124 + 58 194 + 56 p<0.01•
Duración del alcoholismo (años) 23 + 7 29 + 6 p<0.01
•
Dosis acumulada de Alcohol(Kg/Kg) 17 + 7 30 + 7 p<0.01
Similar systolic dysfunction in OH women with CHFwith a 40% less intake of alcohol than menFernández-Solà et al. Am J Cardiol 1997; 80:481.
ALCOHOLIC MYOPATHY in women
Urbano-Márquez et al. The greater risc of alcoholiccardiomyopathy and Myopathy in women compared to men. JAMA 1995; 274: 149.
♂
♀
Ragged-red fibers
Diagnóstico difícilPluripatológicos
Enfermedades prevalentesEdad avanzada
Áreas de capacitaciónPaliativos
EmergenciasQuirúrgicos
Rare
diseases
Objetive
•
Creation of a multidisciplinary team (Workgroup) to attend those patients with RD that they reach the adult age
•
Hospital Clínic: “Grup
de Treball”
Plan of implantation
4 years, according to the budget:
Implementation of 20 Units
Implementation of 8 Units and 10 Workgroups
Implementation of 8 Units and 10 Workgroups
Implementation of 10 Workgroups
2010
2011
2012
2013
Workgroup on Rare Diseases
InternalMedicine
AutoimmuneDiseases
CDBHMD Lab.
ImmunologyOther
•
Hereditary
metabolic diseases
•
Mitochondrial
Myopathies•
Muscle Dystrophies
•
Other
•
Hereditary
Autoinflammatory Syndromes
•
Hereditary
Immunodeficiencies
DISEASE NUMBER OF PATIENTS BASIC TREATMENT
PYRUVATE METABOLISM AND OXPHOS DEFICIENCIES 7Respiratory chain deficiencies 4 PharmacologicCoQ10 deficieny 2 PharmacologicPyruvate carboxylase deficiency 1 Dietetic
CONGENITAL DISORDERS OF GLYCOSILATION (CDG) 3 No treatment GALACTOSEMIA (galactose-1-phosphate uridyl transferase) 7 DieteticORGANIC ACIDURIAS 5
4-Hydroxybutyric aciduria 1 PharmacologicGlutaric aciduria type I 1 DieteticPropionic acidemia 1 DieteticGlutation synthase deficiency 1 PharmacologicBiotinidase deficiency 1 Pharmacologic
DISORDERS OF AMINOACID METABOLISM 42Phenylketonuria 40 DieteticHomocystinuria (CbL E) 1 PharmacologicCitrullinemia 1 Dietetic
OTHER INHERITED METABOLIC DISEASES 7Urocanic acidura 1Creatine transporter deficiency 1Glucose transport defect (GLUT 1) 1Multiple acyl-CoA dehydrogenase deficiency 1 DieteticImerslun syndrome 1
Glucogenosis type? 1Carnitine palmitoyltransferase II 1 Dietetic
LYSOSOMAL DISORDERS 26Gaucher disease 2 ERTGM2 3Metachromatic leukodystrophy 4Krabbe disease 1Sanfillipo A disease 6Sanfillipo B disease 3Morquio A disease 2Morquio B disease 2
Hunter disease 1Niemann Pick type C 2
TOTAL NUMBER OF PATIENTS 97
OUR EXPERIENCE
Grup de Recerca Muscular (GRM) 2000-2013
Adult myopathies
Near 300 patients from 6 different categories
Muscle dystrophies n=100 Steinert, limb
girdle, FEH, OF, etc.
Mitocondrialencephalomyopathies n=25 Pearson, Kearns-Sayre, MELAS, MERRF,
etc.
Metabolic myopathies n=15 Lipidic, Glucogenosis, etc.
Congenital myopathies n=10 Central core, nemaline, congenital disproportion….
Inflammatory myopathies n=100 PM, DM, MCI.
Miscellaneous n=40 Amyloidosis, Miasthenia
gravis, sarcoidosis, vasculitis, post-polio, etc.
050
100150200250300
1995
1996
1997
1998
1999
2000
2001
2002
2003
2004
2005
2006
2007
2008
2009
total múscul nervi arteria arteria +
BIOPSIES MÚSCUL, NERVI I ARTERIA TEMPORAL IRA: 70%
MDI: 75%
Altres
Serveis
i Hospitals: 25%
13
11
0
2
4
6
8
10
12
14
Sin tratamiento(6-18 m)
Fallecidas
Aspiración Neo
IBM
PM
DMOUTCOMES OF IIM
International Congress
of
AutoimmunityPorto (Nov. 2008)
ConventionalConventional CancerCancer ScreeningScreening VersusVersus FDGFDG--PETPET/CT in/CT in
DermatomyositisDermatomyositis//PolymyositisPolymyositis. A . A threethree--yearyear prospectiveprospective studystudy
Selva-O’Callaghan, Albert, MD, PhDGrau, Josep Mª, MD, PhD
Gámez-Cenzano, Cristina, MD, PhDVidaller-Palacín, Antonio, MD, PhD
Martínez-Gómez, Xavier, MDTrallero-Araguás, Ernesto, MD
Andía-Navarro, Eduard, MD
Albert Selva and Josep M. Grau Albert Selva and Josep M. Grau equallyequally contributedcontributed to to thisthis workwork
CONCLUSIONSCONCLUSIONS
•
Performing a FDG-PET/CT as a single imaging study for diagnosing occult malignant disease in myositis patients was comparable to that of broad conventional screening.
Malignancy and myositis: novel autoantibodies and new insights.
Albert Selva-O’Callaghan, Ernesto Trallero, Josep M. Grau and Moisés Labrador
Current
Opinion
in Rheumatology, 2010, in press
PEIA. ESTANDARIZACIÓN Y VALOR DIAGNÓSTICO EN LA IDENTIFICACIÓN DE MIOPATÍAS METABÓLICAS
Curvas de incremento de LACTATO
050
100150200250300350400450
0 1 2 5 10
NormalMc ArdleDef. MAD
PEIA. ESTANDARIZACIÓN Y VALOR DIAGNÓSTICO EN LA IDENTIFICACIÓN DE MIOPATÍAS METABÓLICAS
Curvas de incremento de AMONIO
050
100150200250300350400450
0 1 2 5 10
NormalMc ArdleDef. MAD
Diabetic cardiomyopathy
PAN (sural nerve biopsy)
AMILOIDOSIS
Malaria (Pl. falciparum)
CONCLUSIONS
•
Muldisciplinary
team
(physicians
with active clinical practice, biologists, fellows..).
•
Basic research
(IBM, mitochondria...)
•
Clinical
research
(alcohol, myopathies, vasculitis, CFS, mediterranean
diet...)
•
Rare
diseases
(pediatrics
to adults)
