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At least 145 records · Page 8Linked to original sources
PubMed1989

[Numerical identification of aquatic microorganisms using automated methods; for example, identification of bacteria from activated sludge].

A probability matrix for numerical identification of aquatic microorganisms was constructed using 90 miniaturized biochemical tests. More than 2000 reference strains originated from different culture collections and environmental strains identified by conventional methods were included in this matrix. All test result can be read visually and by photometer (automatically). First applications of this system on aerobic and facultative anaerobic heterotrophic organisms from activated sludge revealed the advantage of this system compared to conventional methods and delivered further a detailed description of the activated sludge community.

Bacteria↗
PubMed1985

Metropolitan forensic anthropology team (MFAT) case studies in identification: 3. Identification of John J. Sullivan, the missing journalist.

Skeletal remains removed from an unmarked grave in El Salvador were intensively studied by a team of forensic science experts. Even though the skull, teeth, and several major bones were missing, a positive identification was made of the missing journalist. This was contrary to reports submitted to the State Department by Salvadorian officials. All of the methods used in this investigation, which includes a new method for simultaneously assessing sex and race by discriminant function analysis that was tested by application, are fully described. The international background of this case and information regarding the cause of death is discussed.

Adult↗
PubMed1993

A simple identification system for slowly growing mycobacteria. II. Identification of 25 strains isolated from surface water in Valencia (Spain).

Based on a twenty-year experience, a simple identification system for slowly growing mycobacteria has been presented for clinical laboratories not specialized in this work. With this system (12 tests: tolerance to 0.02% picric acid, colony pigmentation in the dark, nitrate reduction, resistance to ethambutol, tween hydrolysis at 7 and 14 days, resistance to hydroxylamine, PAS degradation, tolerance to p-nitrobenzoic acid, production of nicotinic acid and colony morphology) we have identified 15 strains of Mycobacterium gordonae and 10 of Mycobacterium avium-intracellulare complex, isolated from surface water in Valencia, Spain.

Mycobacterium↗
PubMed1993

[Identification of reference strains of intestinal bacteria using the TNW, IDENTI and NIS 86 numeric identification systems].

A total of 176 reference strains including 63 species of Enterobacteriaceae mainly of clinical origin were tested by commercial diagnostic kits ENTEROtest 1 & 2. The identification efficacy in both systems TNW and IDENTI was nearly in agreement 144 (81.8%), 142 (80.7%) respectively correctly identified strains. The NIS 86 system identified only 54 (30.7%) strains correctly.

Bacteriological Techniques↗
PubMed1995

Laboratory identification of lupus anticoagulants: results of the Second International Workshop for Identification of Lupus Anticoagulants. On behalf of the Subcommittee on Lupus Anticoagulants/Antiphospholipid Antibodies of the ISTH.

Lupus anticoagulants (LAs) are antibodies that interfere with phospholipid dependent coagulation reactions in vitro. This workshop was designed to provide the participants with an experience in identification of LAs, to evaluate different criteria for mixing studies, to assess the performance of recently introduced confirmatory studies and to assess the performance of two potential surrogate LA control plasmas. The results demonstrate that there continues to be significant variation in the sensitivity and responsiveness of APTT reagents to the presence of LAs, confirming the need for more than one screening assay before the presence of a LA can be ruled out. In this workshop, the best distinction between factor deficiency and inhibitors was obtained using a 1:1 mix of normal plasma with patient plasma and the criterion defining correction as shortening of the APTT to within 5 s of the APTT of pooled normal plasma. A 4:1 mix of patient to normal plasma did not work well in distinguishing factor deficiency from inhibitors. The platelet neutralization procedure, DVV confirm and StaClot LA all gave positive results with the LA samples. False positive platelet neutralization procedures were seen with the samples from patients on oral anticoagulants and a factor V inhibitor. False positive StaClot LA results were obtained with high titer factor VIII inhibitors. Both of the potential surrogate plasmas gave variable results with multiple assays; they can not be recommended for routine use at present.

Humans↗
PubMed1998

A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Mutations in brief no. 117. Online.

Congenital lipoid adrenal hyperplasia (CLAH) is an autosomalrecessive disorder characterized by impaired production of all steroids including glucocorticoids, mineralocorticoids and sexsteriods. It has recently been reported that mutations in the steriodogenic acute regulatory protein (StAR) gene cause CLAH. We analyzed the StAR gene in a Japanese patient with CLAH. The patient was revealed to be a compound heterozygote bearing a nonsense mutation Q258X, changing codon 258 (CAG) encoding Gln to the stop codon TAG, and a novel framshift mutation 840delA resulting from deletion of one of the three adenosines normally present in codon 238 (AAA), thus leading to a frameshift after codon 237 (Thr) in the StAR gene. The patient was also revealed to be homozygous for a novel missense point mutation D203A, changing codon 203 (GAC) encoding Asp to GCC encoding Ala in the StAR gene. To elucidate the significance of the D203A mutation, we analyzed the StAR gene sequence in twenty normal subjects, and found that all of them were homozygous for the D203A mutation, indicating that the D203A mutation is an innocent polymorphism. In conclusion, we have identified a novel frameshift mutation 840delA which seems to cause 840delA and the first polymorphism D203A in the human StAR gene.

Adrenal Hyperplasia, Congenital↗
PubMed1998

Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.

We used the single strand conformation polymorphism (SSCP) method to investigate 13 apparently unrelated Spanish patients with familial hypercholesterolemia (FH) for mutations in the promoter region and the 18 exons and their flanking intron sequences of the low density lipoprotein (LDL) receptor gene. We found 16 aberrant SSCP patterns, and the underlying mutations were characterized by DNA sequencing. Five novel missense mutations, Q71E, C74G, C95R, C281Y and D679E, and one nonsense mutation, Q133X, were identified. We also found six missense mutations, S156L, D200Y, D200G, E256K, T413K and C646Y, and one stop codon mutation, W(-18)X, that were previously described in patients from other populations. A new frameshift mutation, 2085del19, was found in one patient. We also identified three splicing mutations; two of them are novel mutations, 1706-10G->A and 2390-1G->A, and the other one has been reported recently, 313+1G->C. Four patients were found to carry two different mutations in the same allele: Q71E and 313+1G->C; C95R and D679E; W(-18)X and E256K, and C281Y and 1706-10G->A. Our results demonstrate that there is a broad spectrum of mutations in the LDL receptor gene in the Spanish population.

DNA Mutational Analysis↗
PubMed1998

Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online.

Congential bilateral aplasia of vas deferens (CBAVD), a form of male sterility, has been suggested to represent a "genital" form of cystic fibrosis (CF), as mutations in the CFTR gene have been identified in most patients with this condition. Interestingly, the 5T allele in intron 8 appeared to be the most frequent mutation associated with CBAVD. However, the molecular basis of CBAVD is not completely understood. We have analysed the complete coding and flanking CFTR sequences by PCR-DGGE in 64 men with CBAVD from southern France with the aim to list any sequence alteration. Fourty-two of the 64 patients (65.6%) had mutations on both copies of the CFTR gene, including one patient with two mutations in the same copy (DF508 + A1067T). The 5T allele was present in 21/64 cases (33%). Six of the 28 different mutations identified in this study had never been described previously, and appeared to be specific to CBAVD (P111L, M244K, A1364V, G544V, 2896insAG,-33G->A).

Cystic Fibrosis Transmembrane Conductance Regulato↗