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1.
J Neuroimmunol ; 339: 577122, 2020 02 15.
Article in English | MEDLINE | ID: mdl-31837636

ABSTRACT

The K free light chains index (K-FLC index) has been proposed as an alternative test for intrathecal immunoglobulin synthesis in MS diagnosis. Aim of the study was to assess the accuracy of the K-FLC index in differentiating MS from other immune-mediated CNS disorders and NMOSD. Data were available from a cohort of 371 patients. K-FLC index was significantly higher in MS: MS mean K-FLC index 90.897 ± 134.198; NMOSD 17.992 ± 15.103; other immune-mediated CNS disorders 12.568 ± 24.440. The overall diagnostic accuracy of the K-FLC index was similar to intrathecal oligoclonal bands detection. However, as a quantitative variable, K-FLC index allowed easier discrimination of MS from other immune-mediated CNS disorders: highest K-FLC index values (> 100) were observed almost only in MS and are therefore strongly predictive of MS, in patients with the appropriate clinical presentation.


Subject(s)
Immunoglobulin Light Chains/metabolism , Multiple Sclerosis/diagnosis , Multiple Sclerosis/metabolism , Neuromyelitis Optica/diagnosis , Neuromyelitis Optica/metabolism , Adult , Autoimmune Diseases of the Nervous System/diagnosis , Autoimmune Diseases of the Nervous System/metabolism , Biomarkers/blood , Biomarkers/cerebrospinal fluid , Central Nervous System Diseases/diagnosis , Central Nervous System Diseases/metabolism , Diagnosis, Differential , Female , Humans , Male , Middle Aged , Oligoclonal Bands/metabolism
2.
Tissue Antigens ; 69(4): 342-7, 2007 Apr.
Article in English | MEDLINE | ID: mdl-17389019

ABSTRACT

We describe a new HLA-A*02 allele, identified in a cord blood unit and in her mother. Nucleotide sequence analysis showed the presence of a new HLA-A*02 allele identical to HLA-A*02010101 except for a non-synonymous nucleotide exchange in exon 4 modifying codon 232 from GAG (Glu) to GAC (Asp). No other human leucocyte antigen class I allele sequenced so far shows this triplet at codon 232. The amino acid exchange affects a position that is part of the membrane proximal domain of class I major histocompatibility complex (MHC), designated alpha 3, and involved in the interaction with CD8 molecule. Using molecular modelling approach, the interactions between different subunits of the native and mutated forms of MHC-I resulted in relevant changes.


Subject(s)
Alleles , Fetal Blood/metabolism , Genes, MHC Class I , HLA-A Antigens/genetics , Mutation , Base Sequence , Codon , Female , HLA Antigens , Humans , Infant, Newborn , Models, Genetic , Models, Molecular , Molecular Sequence Data , Polymorphism, Genetic
3.
Int J Immunogenet ; 33(5): 375-84, 2006 Oct.
Article in English | MEDLINE | ID: mdl-16984283

ABSTRACT

Graft-versus-host disease (GvHD) is the main complication after haematopoietic stem cells transplantation (HSCT) and acute forms (aGvHD) occur in 20-40% of cases even after donor (D) and recipient (R) HLA matching, apparently because of D/R minor histocompatibility antigen (mHA) mismatches and cytokine polymorphisms. The genotype of cytokines and mHA of 77 haematological R following HSCT from HLA identical siblings were determined to detect genetic polymorphisms correlated with GvHD. We analysed TNFA (-863 C/A, -857 C/T and G/A at positions -574, -376, -308, -244, -238), IL-10 (-1082 G/A, -819 C/A, -592 C/T), IL-1B (T/C +3953), IL-1RA (VNTR), HA-1 (H/R allele) and CD-31 (C/G at codon 125, A/G at codon 563). Allele frequencies were in Hardy-Weinberg equilibrium and similar to those of 77 healthy controls. We observed positive correlations between a lower risk of clinically significant aGvHD and both the presence of -1082G -819C -592C IL-10 haplotype when both R and D are considered together and the absence of R IL-1RA allele 2. Furthermore, we observed an association between the absence of TNF-A -238 A allele and the risk of extensive chronic GvHD. mHA and cytokines genotyping would thus seem a valid source of information for the prior identification of recipients with a higher risk of aGvHD.


Subject(s)
Cytokines/genetics , Graft vs Host Disease/genetics , Polymorphism, Single Nucleotide , Adult , Gene Frequency , HLA Antigens/genetics , Haplotypes , Hematologic Diseases/therapy , Hematopoietic Stem Cell Transplantation , Humans , Interleukin-1/genetics , Interleukin-10/genetics , Living Donors , Middle Aged
4.
Tissue Antigens ; 67(5): 427-9, 2006 May.
Article in English | MEDLINE | ID: mdl-16671952

ABSTRACT

A new HLA-DRB5 allele, HLA-DRB5*0113, has been identified in an Italian patient during routine HLA typing in order to activate a bone marrow donor search. HLA typing was performed by different molecular biology techniques, and the results showed that the HLA-DRB5*0113 allele differs from HLA-DRB5*010101 allele for three nucleotide substitutions at codons 57 (GAC-->GAT; Asp) and 58 (GCT-->GAG; Ala-->Glu) of exon 2.


Subject(s)
Bone Marrow Transplantation/immunology , HLA-DR Antigens/genetics , Histocompatibility Testing/methods , Alanine/chemistry , Alanine/genetics , Alleles , Amino Acid Sequence , Amino Acid Substitution , Base Sequence , Glutamic Acid/chemistry , Glutamic Acid/genetics , HLA-DRB5 Chains , Humans , Male , Middle Aged , Molecular Sequence Data , Mutation
5.
Tissue Antigens ; 64(2): 210-2, 2004 Aug.
Article in English | MEDLINE | ID: mdl-15245378

ABSTRACT

Abstract A new human leucocyte antigen (HLA)-DRB1 allele, HLA-DRB1*1149, has been identified in three members of an Italian family during routine sequence based typing. This new allele differs from HLA-DRB1*110101 only for a single nucleotide substitution at position 113 of exon 2 resulting in an amino acid change from Valine (GTG) to Alanine (GCG) at codon 38.


Subject(s)
Alleles , HLA-DR Antigens/genetics , Amino Acid Sequence , Amino Acid Substitution , Base Sequence , HLA-DRB1 Chains , Humans , Italy , Molecular Sequence Data , Sequence Alignment
7.
JAMA ; 271(11): 824; author reply 825, 1994 Mar 16.
Article in English | MEDLINE | ID: mdl-8114232
8.
Iowa Med ; 80(12): 567-70, 1990 Dec.
Article in English | MEDLINE | ID: mdl-2269617

ABSTRACT

Nonoperative treatment of perforation of the esophagus can have a successful outcome. In conjunction with other modalities, the Moss nasogastric tube most closely simulates benefits obtained by direct surgical intervention upon the perforated esophagus.


Subject(s)
Esophageal Perforation/therapy , Intubation, Gastrointestinal , Esophageal Perforation/etiology , Female , Humans , Intubation, Gastrointestinal/instrumentation , Middle Aged , Postoperative Complications
9.
N Y State J Med ; 87(3): 140-1, 1987 Mar.
Article in English | MEDLINE | ID: mdl-3472109
10.
J Iowa Med Soc ; 70(11): 463-5, 1980 Nov.
Article in English | MEDLINE | ID: mdl-7192303
11.
Arch Surg ; 110(12): 1491-3, 1975 Dec.
Article in English | MEDLINE | ID: mdl-1200833

ABSTRACT

Malignant hyperthermia is induced by potent inhalation anesthetics. Enflurane must be added to the list of those anesthetic agents (such as halothane and succinylcholine) that are associated with this condition. The patient in our study was a young woman with no history of prior exposure to general anesthetics, and no family history of complications following administration of anesthetics. The other possible causes of hyperthermia in the patient were investigated and eliminated, and the condition was finally associated with enflurane. Enflurane should not be used in patients with a family history of this rare but often lethal disorder.


Subject(s)
Enflurane/adverse effects , Malignant Hyperthermia/chemically induced , Methyl Ethers/adverse effects , Adult , Aged , Child , Child, Preschool , Creatine Kinase/blood , Female , Humans , Male , Malignant Hyperthermia/enzymology , Malignant Hyperthermia/genetics , Middle Aged , Myoglobinuria/complications
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