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2.
Am J Transplant ; 16(7): 2213-2223, 2016 Jul.
Article in English | MEDLINE | ID: mdl-26876068

ABSTRACT

Granulomatosis with polyangiitis (GPA; formerly Wegener's granulomatosis) is a rare vasculitis that commonly starts in the craniofacial region. We report a case that was masked by prior facial trauma and associated with pyoderma gangrenosum (PG). Disease progression and aggressive debridements led to severe facial tissue loss. The decision to perform a face transplant was controversial because of the risk of disease relapse on the facial allograft. We reviewed renal transplant outcomes in GPA for possible relevance. A PubMed search retrieved 29 studies. Patient and graft survival, relapse, morbidity, mortality, rejection and immunosuppression were assessed. Ten-year patient survival and graft survival were 84.4% and 72.6%, respectively. GPA relapse occurred in 31.5%, and upper airway/ocular relapse occurred in 17.8% (resolved in 76.9%). Mortality was 12.3%. Acute and chronic rejection rates were 14.9% and 6.8%, respectively. Traditional posttransplant immunosuppression was effective. Our review suggests that GPA renal transplant outcomes are comparable to general renal transplant cohorts. Furthermore, transplanted GPA patients exhibit lower disease relapse secondary to lifelong immunosuppression. This supported our decision to perform a face transplant in this patient, which has been successful up to the present time (1-year posttransplantation). Untreated GPA and PG are potential causes of worse surgical outcomes in the craniofacial region.

4.
Neurology ; 78(17): 1299-303, 2012 Apr 24.
Article in English | MEDLINE | ID: mdl-22496201

ABSTRACT

OBJECTIVES: To characterize clinically and genetically a family with autosomal dominant lateral temporal epilepsy (ADLTE) negative to LGI1 exon sequencing test. METHODS: All participants were personally interviewed and underwent neurologic examination. Most affected subjects underwent EEG and neuroradiologic examinations (CT/MRI). Available family members were genotyped with the HumanOmni1-Quad v1.0 single nucleotide polymorphism (SNP) array beadchip and copy number variations (CNVs) were analyzed in each subject. LGI1 gene dosage was performed by real-time quantitative PCR (qPCR). RESULTS: The family had 8 affected members (2 deceased) over 3 generations. All of them showed GTC seizures, with focal onset in 6 and unknown onset in 2. Four patients had focal seizures with auditory features. EEG showed only minor sharp abnormalities in 3 patients and MRI was unremarkable in all the patients examined. Three family members presented major depression and anxiety symptoms. Routine LGI1 exon sequencing revealed no point mutation. High-density SNP array CNV analysis identified a genomic microdeletion about 81 kb in size encompassing the first 4 exons of LGI1 in all available affected members and in 2 nonaffected carriers, which was confirmed by qPCR analysis. CONCLUSIONS: This is the first microdeletion affecting LGI1 identified in ADLTE. Families with ADLTE in which no point mutations are revealed by direct exon sequencing should be screened for possible genomic deletion mutations by CNV analysis or other appropriate methods. Overall, CNV analysis of multiplex families may be useful for identifying microdeletions in novel disease genes.


Subject(s)
Epilepsy, Temporal Lobe/genetics , Proteins/genetics , Sequence Deletion , Adolescent , Adult , Anticonvulsants/therapeutic use , Anxiety/complications , Carbamazepine/analogs & derivatives , Carbamazepine/therapeutic use , Depressive Disorder, Major/complications , Electroencephalography , Epilepsy, Temporal Lobe/complications , Epilepsy, Temporal Lobe/diagnosis , Epilepsy, Temporal Lobe/drug therapy , Female , Humans , Intracellular Signaling Peptides and Proteins , Lod Score , Magnetic Resonance Imaging , Male , Middle Aged , Neurologic Examination , Oxcarbazepine , Pedigree , Young Adult
5.
Equine Vet J ; 40(7): 662-5, 2008 Nov.
Article in English | MEDLINE | ID: mdl-18487097

ABSTRACT

REASONS FOR PERFORMING STUDY: Only few drugs with limited efficacy are available for topical treatment of equine glaucoma. OBJECTIVE: To evaluate the effect of topical administration of 1% brinzolamide on intraocular pressure (IOP) in clinically normal horses. METHODS: Healthy mature horses (n = 20) with normal ocular findings, were studied. The IOP was measured 5 times daily (07.00, 11.00, 15.00, 19.00 and 23.00 h) over 10 days. On Days 1 and 2, baseline values were established. On Days 3-5 one eye of each horse was treated with one drop of 1% brinzolamide every 24 h immediately following the 07.00 h measurement. On Days 6-8 the same eye was treated with 1% brinzolamide every 12 h (07.00 and 19.00 h). Measurements on Days 9 and 10 documented the return of IOP to baseline values. Statistical analysis of the data was performed. RESULTS: In the treated eye a significant decrease in IOP compared to baseline values was noted during both the 24 and 12 h dosing periods (P < 0.001). During the once-daily treatment protocol an IOP reduction of 3.1 +/- 13 mmHg (14%) from baseline was recorded. During the twice-daily protocol a total IOP reduction of 5.0 +/- 1.5 mmHg (21%) was achieved. CONCLUSION: Intraocular pressure was significantly decreased by 1% brinzolamide in a once-daily and a twice-daily treatment protocol in normotensive eyes. These findings suggest that brinzolamide might also be effective in horses with an elevated IOP. POTENTIAL RELEVANCE: This drug may be useful for treatment of equine glaucoma.


Subject(s)
Carbonic Anhydrase Inhibitors/administration & dosage , Intraocular Pressure/drug effects , Ophthalmic Solutions/administration & dosage , Sulfonamides/administration & dosage , Thiazines/administration & dosage , Administration, Topical , Animals , Carbonic Anhydrase Inhibitors/adverse effects , Carbonic Anhydrase Inhibitors/pharmacology , Dose-Response Relationship, Drug , Drug Administration Schedule/veterinary , Female , Glaucoma/drug therapy , Glaucoma/veterinary , Horse Diseases/drug therapy , Horses , Male , Ophthalmic Solutions/adverse effects , Reference Values , Sulfonamides/adverse effects , Sulfonamides/pharmacology , Thiazines/adverse effects , Thiazines/pharmacology
7.
Genet Mol Res ; 6(3): 504-9, 2007 Aug 30.
Article in English | MEDLINE | ID: mdl-17985303

ABSTRACT

Four populations of Serrapinnus notomelas and one population of Serrapinnus sp.1, both belonging to the subfamily Cheirodontinae, were analyzed by Giemsa and silver nitrate impregnation techniques. We found 2n = 52 chromosomes for all populations, with interspecific differences in the karyotype formula; S. notomelas showed 16 m + 22 sm + 10 st + 4a, with fundamental number (FN) = 100 for males, and 16 m + 23 sm + 10 st + 3a, with FN = 101 for females. Serrapinnus sp.1 had 8m + 16 sm + 4 st + 24 a, with FN = 80 for males, and 8m + 15 sm + 4 st + 25 a, with FN = 79 for females. The difference in FN for the two sexes is due to a pair of heteromorphic chromosomes in the females of both species, which characterizes a ZZ/ZW-type mechanism of chromosome sexual determination. Interspecies differences were also found in nucleolus organizer regions (NORs). A simple NOR system was detected in three of four S. notomelas populations, while Serrapinnus sp.1 had two chromosome pairs with NOR. Although S. notomelas and Serrapinnus sp.1 have the same diploid number, differences in the karyotype structure indicate that these are different species. Apparently there was pericentric inversion during the karyotype evolution of these species.


Subject(s)
Cytogenetic Analysis/methods , Cytogenetics/methods , Fishes/genetics , Sex Chromosomes/ultrastructure , Animals , Chromosome Mapping , Chromosomes/ultrastructure , Female , Genetics, Population , Karyotyping , Male , Models, Genetic , Nucleolus Organizer Region
8.
Genet. mol. res. (Online) ; 6(3): 504-509, 2007. ilus
Article in English | LILACS | ID: lil-498921

ABSTRACT

Four populations of Serrapinnus notomelas and one population of Serrapinnus sp.1, both belonging to the subfamily Cheirodontinae, were analyzed by Giemsa and silver nitrate impregnation techniques. We found 2n = 52 chromosomes for all populations, with interspecific differences in the karyotype formula; S. notomelas showed 16m + 22sm + 10st + 4a, with fundamental number (FN) = 100 for males, and 16m + 23sm + 10st + 3a, with FN = 101 for females. Serrapinnus sp.1 had 8m + 16sm + 4st + 24a, with FN = 80 for males, and 8m + 15sm + 4st + 25a, with FN = 79 for females. The difference in FN for the two sexes is due to a pair of heteromorphic chromosomes in the females of both species, which characterizes a ZZ/ZW-type mechanism of chromosome sexual determination. Interspecies differences were also found in nucleolus organizer regions (NORs). A simple NOR system was detected in three of four S. notomelas populations, while Serrapinnus sp.1 had two chromosome pairs with NOR. Although S. notomelas and Serrapinnus sp.1 have the same diploid number, differences in the karyotype structure indicate that these are different species. Apparently there was pericentric inversion during the karyotype evolution of these species.


Subject(s)
Animals , Male , Female , Cytogenetic Analysis/methods , Cytogenetics/methods , Sex Chromosomes/ultrastructure , Fishes/genetics , Chromosome Mapping , Chromosomes/ultrastructure , Genetics, Population , Karyotyping , Models, Genetic , Nucleolus Organizer Region
16.
J Vet Intern Med ; 17(6): 799-807, 2003.
Article in English | MEDLINE | ID: mdl-14658715

ABSTRACT

The prevalence of Chlamydophila felis and feline herpesvirus 1 (FHV-1) infection in cats with conjunctivitis in northern Italy was investigated by conventional polymerase chain reaction (PCR) testing. In cats with conjunctivitis, C felis and FHV-1 were detected in 14 of 70 (20%) and in 23 of 70 (33%) animals, respectively. None of the 35 control cats were positive for C felis, whereas 7 (20%) of these cats were positive for FHV-1. Mixed infections were present in 5 of 70 cats (7%). Cats positive for C felis were significantly younger than control animals (P = .02), whereas no significant age differences were observed between FHV-1-positive cats and control cats (P = .41) or between FHV-1-positive animals and C felis-positive animals (P = .16). Cats sampled during acute-phase conjunctivitis were also investigated for the presence of C felis by conjunctival scrapings. In this acute phase, substantial agreement was found when comparing the results of the 2 methods (K = .80). The association between PCR results and conjunctivitis was evaluated for the 2 pathogens. The presence of C felis was significantly associated with conjunctivitis (P = .004), whereas the detection of FHV-1 did not significantly correlate with the clinical sign (P = .25), suggesting that, by itself. PCR is not suitable for the diagnosis of FHV-1-related conjunctivitis.


Subject(s)
Cat Diseases/microbiology , Chlamydophila Infections/veterinary , Chlamydophila/isolation & purification , Conjunctivitis/veterinary , Herpesviridae Infections/veterinary , Herpesviridae/isolation & purification , Animals , Cat Diseases/epidemiology , Cats , Chlamydophila/genetics , Chlamydophila Infections/epidemiology , Chlamydophila Infections/microbiology , Chlamydophila Infections/virology , Conjunctiva/microbiology , Conjunctiva/virology , Conjunctivitis/epidemiology , Conjunctivitis/microbiology , Conjunctivitis/virology , DNA, Bacterial/chemistry , DNA, Bacterial/genetics , DNA, Viral/chemistry , DNA, Viral/genetics , Female , Herpesviridae/genetics , Herpesviridae Infections/epidemiology , Herpesviridae Infections/microbiology , Herpesviridae Infections/virology , Italy/epidemiology , Male , Polymerase Chain Reaction/veterinary , Statistics, Nonparametric
17.
J Comp Pathol ; 129(4): 303-7, 2003 Nov.
Article in English | MEDLINE | ID: mdl-14554128

ABSTRACT

Sarcomatoid renal cell carcinoma is an uncommon tumour in human beings, and osteogenic differentiation is a rare feature. This report describes such a case in a male dog aged 8 years. The tumour, which showed extensive osseous metaplasia and a few necrotic areas, protruded into the renal pelvis, disrupting the renal capsule. Light microscopical and immunohistochemical examination revealed the epithelial nature of the tumour. Abnormal liver biochemistry, mild hepatocyte degeneration and the absence of histological evidence of metastasis suggested a paraneoplastic hepatopathy.


Subject(s)
Calcinosis/pathology , Carcinoma, Renal Cell/pathology , Kidney Neoplasms/pathology , Sarcoma/pathology , Animals , Calcinosis/veterinary , Carcinoma, Renal Cell/complications , Carcinoma, Renal Cell/veterinary , Diagnosis, Differential , Dogs , Humans , Immunohistochemistry , Kidney Neoplasms/complications , Kidney Neoplasms/veterinary , Liver Diseases/etiology , Liver Diseases/pathology , Male , Paraneoplastic Syndromes/pathology , Sarcoma/complications , Sarcoma/veterinary
18.
Hum Mol Genet ; 10(3): 189-94, 2001 Feb 01.
Article in English | MEDLINE | ID: mdl-11159936

ABSTRACT

Arrhythmogenic right ventricular dysplasia type 2 (ARVD2, OMIM 600996) is an autosomal dominant cardiomyopathy, characterized by partial degeneration of the myocardium of the right ventricle, electrical instability and sudden death. The disease locus was mapped to chromosome 1q42--q43. We report here on the physical mapping of the critical ARVD2 region, exclusion of two candidate genes (actinin 2 and nidogen), elucidation of the genomic structure of the cardiac ryanodine receptor gene (RYR2) and identification of RYR2 mutations in four independent families. In myocardial cells, the RyR2 protein, activated by Ca(2+), induces the release of calcium from the sarcoplasmic reticulum into the cytosol. RyR2 is the cardiac counterpart of RyR1, the skeletal muscle ryanodine receptor, involved in malignant hyperthermia (MH) susceptibility and in central core disease (CCD). The RyR2 mutations detected in the present study occurred in two highly conserved regions, strictly corresponding to those where mutations causing MH or CCD are clustered in the RYR1 gene. The detection of RyR2 mutations causing ARVD2, reported in this paper, opens the way to pre-symptomatic detection of carriers of the disease in childhood, thus enabling early monitoring and treatment.


Subject(s)
Arrhythmogenic Right Ventricular Dysplasia/genetics , Myocardium/metabolism , Ryanodine Receptor Calcium Release Channel/genetics , Amino Acid Sequence , Arrhythmogenic Right Ventricular Dysplasia/pathology , Base Sequence , Chromosome Mapping , Chromosomes, Human, Pair 1/genetics , DNA/chemistry , DNA/genetics , DNA Mutational Analysis , Family Health , Female , Genetic Predisposition to Disease/genetics , Humans , Male , Molecular Sequence Data , Mutation , Mutation, Missense , Pedigree , Polymorphism, Single-Stranded Conformational , Sequence Alignment , Sequence Homology, Amino Acid
19.
J Am Coll Cardiol ; 36(7): 2226-33, 2000 Dec.
Article in English | MEDLINE | ID: mdl-11127465

ABSTRACT

OBJECTIVES: We sought to define the clinical picture and natural history of familial arrhythmogenic right ventricular cardiomyopathy (ARVC). BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy is a myocardial disease, often familial, clinically characterized by the impending risk of ventricular arrhythmias and sudden death. METHODS: Thirty-seven ARVC families of northeast Italy were studied. Probands had a histologic diagnosis of ARVC, either at autopsy (19 families) or endomyocardial biopsy (18 families). Protocol of the investigation included basal electrocardiogram (ECG), 24-hour ECG, signal-averaged ECG, stress test and two-dimensional Doppler echocardiography. Invasive evaluation was performed when deemed necessary. RESULTS: Of the 365 subjects, 151 (41%) were affected, 157 (43%) were unaffected, 17 (5%) were healthy carriers, and 40 (11%) were uncertain. Mean age at diagnosis was 31+/-13 years. By echocardiography, 64% had mild, 30% had moderate, and 6% had severe form. Forty percent had ventricular arrhythmias, 49 were treated with antiarrhythmic drugs, and two were treated with implantable cardioverter defibrillators. Sport activity was restricted in all. Of the 28 families who underwent linkage analysis, 6 mapped to chromosome 14q23-q24, 4 to 1q42-q43, and 4 to 2q32.1-q32.3. No linkage with known loci was found in four families and 10 had uninformative results. During a follow-up of 8.5+/-4.6 years, one patient died (0.08 patient/year mortality), and 15 developed an overt form of ARVC. CONCLUSIONS: Arrhythmogenic right ventricular cardiomyopathy is a progressive disease appearing during adolescence and early adulthood. Systematic evaluation of family members leads to early identification of ARVC, characterized by a broad clinical spectrum with a favorable outcome. In the setting of positive family history, even minor ECG and echocardiographic abnormalities are diagnostic.


Subject(s)
Arrhythmogenic Right Ventricular Dysplasia , Adult , Arrhythmogenic Right Ventricular Dysplasia/diagnosis , Arrhythmogenic Right Ventricular Dysplasia/epidemiology , Arrhythmogenic Right Ventricular Dysplasia/genetics , Disease Progression , Echocardiography, Doppler , Electrocardiography , Exercise Test , Female , Follow-Up Studies , Genetic Linkage , Humans , Italy/epidemiology , Male
20.
Biochem Biophys Res Commun ; 278(3): 766-74, 2000 Nov 30.
Article in English | MEDLINE | ID: mdl-11095982

ABSTRACT

Within the ARVD1 (arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 1) critical region, mapped to 14q24.3, we detected an intronless gene of 4859 bp, predominantly expressed in the heart tissue. This gene encodes a 796-amino-acid, proline-rich protein showing polyglutamine and polyalanine tracks with variable length at the N-terminus and a C3HC4 RING finger domain at the C-terminus. CREB and AP-2 binding sites are present in the promoter region. The 5' flanking region contains neither a TATA box nor a CAAT box, but it is high in GC content and includes several Sp1 binding sites. Protein similarity searches revealed a significant match between the C-terminus and a human hypothetical protein, whose gene is located on the chromosome 19 long arm. The predicted protein shows PEST sequences, suggesting its rapid degradation. The novel intronless gene, provisionally named C14orf4 and probably encoding a nuclear protein, was excluded from being the ARVD1 gene.


Subject(s)
Cardiomyopathies/genetics , Carrier Proteins/genetics , Chromosomes, Human, Pair 14 , Nuclear Proteins/genetics , Open Reading Frames , Peptides/genetics , Ventricular Dysfunction, Right/genetics , Amino Acid Sequence , Animals , Base Sequence , Caenorhabditis elegans/genetics , Carrier Proteins/chemistry , Chromosome Mapping , DNA/genetics , DNA, Complementary , Drosophila melanogaster/genetics , Humans , Molecular Sequence Data , Nuclear Proteins/chemistry , Polymerase Chain Reaction , Repetitive Sequences, Nucleic Acid , Reverse Transcriptase Polymerase Chain Reaction , Sequence Alignment , Sequence Homology, Amino Acid
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