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PubMed1980

Multiple keratoacanthomas associated with steatocystoma multiplex and rheumatoid arthritis. A case report.

Keratoacanthomas have been associated with multiple carcinomas, discoid lupus erythematosus, and multiple sebaceous gland tumors with colonic and gastric carcinoma. Steatocystoma multiplex has been associated with ichthyosis and koilonychia, pachyonychia congenita, multiple hairs and acrokeratosis verruciformis of Hopf, hypertrophic lichen planus, hypohidrosis, hypothyroidism, hidradenitis suppurativa, and hypotrichosis. We report a case of multiple keratoacanthoma associated with steatocystoma multiplex and rheumatoid arthritis.

Arthritis, Rheumatoid↗

PubMed1995

Multiplex PCR to detect the dystrophin gene deletion in Thai patients.

We have demonstrated the usefulness of the multiplex PCR to directly detect the dystrophin gene mutation. Prenatal diagnosis and confirmation of clinical diagnosis of DMD/BMD via non invasive technique are now possible. Nine DMD and one BMD patients were tested. Five DMD patients demonstrated deletion. Thus, this multiplex PCR could detect deletion in approximately 50 per cent of DMD/BMD Thai patients. Eighty per cent of the deletions were in the distal part, whereas, 20 per cent were in the proximal part. We are planning to establish other molecular techniques such as linkage analysis, cDNA hybridization and immunostaining of dystrophin protein to improve a mode of diagnosis and management of DMD/BMD patients in the Thai community.

Dystrophin↗

PubMed1995

Confirmation of the identity of human skeletal remains using Multiplex PCR Amplification and Typing Kits.

The identify of human skeletal remains found in a wooded area approximately one year after the person was reported missing was provisionally established by routine methods and circumstantial evidence. Multiplex PCR systems--the AmpliType PM PCR Amplification and Typing Kit and the GenePrint STR Triplex Amplification and Typing Kit--were used to confirm the identification. DNA profiles from femur bone from the remains were compared with profiles derived from head hairs from a hairbrush recovered in the missing woman's apartment. In addition, a sex typing procedure using the X-Y homologous gene amelogenin was carried out. This is the first report of a case using commercially available multiplex PCR amplification and typing kits to confirm the identity of skeletal remains.

Bone and Bones↗

PubMed1993

Use of multiplex polymerase chain reaction-based assay to conduct epidemiological studies on bovine hemoparasites in Mexico.

A study was conducted to test the applicability of a Polymerase Chain Reaction (PCR)-based approach for the simultaneous detection of the bovine hemoparasites Babesia bigemina, B. bovis and Anaplasma marginale. Bovine blood samples from cattle ranches of a previously determined enzootic zone in the Yucatan Peninsula of Mexico, were collected from peripheral blood and processed for PCR analysis. Blood samples were subjected to DNA amplification by placing an aliquot in a reaction tube containing oligonucleotide primers specific for DNA of each hemoparasite species. The PCR products were detected by Dot-Blot nucleic acid hybridization utilizing nonradioactive, species-specific, digoxigenin PCR-labeled DNA probes. Four hundred twenty one field samples analyzed by the multiplex PCR-DNA probe assay showed 66.7%, 60.1% and 59.6% prevalence rates for B. bigemina, B. bovis and A. marginale, respectively. The multiplex PCR analysis showed that animals with single, double or triple infection could be detected with the parasite specific DNA probes. The procedure is proposed as a valuable tool for the epidemiological analysis in regions where the hemoparasite species are concurrently infecting cattle.

Animals↗

PubMed1994

Homozygous deletions of 9p21 in primary human bladder tumors detected by comparative multiplex polymerase chain reaction.

Deletion mapping studies of primary bladder tumors have identified nonoverlapping areas of loss on each arm of chromosome 9, indicating that two distinct tumor suppressor loci are located on this chromosome. The deleted region on the p arm overlaps an area of 9p previously reported to be lost in a variety of neoplasms. Detailed loss of heterozygosity analysis of 9p in 112 primary bladder tumors using 12 microsatellite markers identified a minimal area of loss around the alpha-interferon locus at 9p21-22. Frequent homozygous deletions of the alpha-interferon locus were then identified in these tumors by a novel, comparative, multiplex polymerase chain reaction assay and were subsequently confirmed by Southern analysis. Based on these deletions, a putative tumor suppressor gene locus involved in bladder tumorigenesis was localized to a 10 cM region (flanked by D9S162 and D9S171), previously implicated in the progression of many neoplasms. Application of the multiplex polymerase chain reaction-based assay will allow rapid identification of homozygous deletions in many neoplasms and thus aid in mapping studies of critical suppressor genes.

Chromosome Deletion↗

PubMed1993

Chemiluminescent DNA sequencing with multiplex labeling.

Chemiluminescent detection techniques provide a sensitive, nonradioactive method for DNA sequencing. Standard Sanger dideoxy DNA sequencing reactions are initiated with biotinylated primers, separated by gel electrophoresis, transferred to nylon membrane and detected utilizing chemiluminescent 1,2-dioxetane substrates for alkaline phosphatase. A multiplex-labeling method was developed to permit detection of several overlapping sets of DNA sequence information on a single membrane, thereby increasing the productivity of a single gel electrophoretic separation. Primers labeled with different haptens at the 5' end were used to perform separate sequencing reactions. These were mixed together prior to electrophoresis, and the individual sequencing products sequentially detected using hapten-specific reagents. We incorporated primers labeled with biotin, digoxigenin, 2,4-dinitrophenyl or fluorescein, each consecutively detected with a hapten-specific alkaline phosphatase conjugate and CSPD 1,2-dioxetane chemiluminescent substrate. To further increase the amount of DNA sequence data that can be obtained from a single membrane, a direct transfer electrophoresis apparatus was used for simultaneous separation of the DNA sequencing reactions and membrane transfer. The resulting increased separation of the high molecular weight fragments yields 350-450 bp of readable DNA sequence data from each template. Chemiluminescent detection of overlapping sets of DNA sequencing reactions utilizing multiplex labeling, combined with direct transfer electrophoresis, provides an efficient, nonradioactive method for DNA sequencing.

2,4-Dinitrophenol↗

PubMed1977

Arthrogryposis multiplex congenita in an abdominal pregnancy.

A case of arthrogryposis multiplex congenita occurred in a 19-week fetus from a primary abdominal pregnancy. The unusual feature is the early synarthrosis, possibly caused by multiple factors. This case supports the concepts of multiple etiologic factors of arthrogryposis multiplex congenita.

Abortion, Therapeutic↗

PubMed1995

[Mononeuropathy multiplex in a patient receiving interferon alpha therapy for chronic hepatitis C].

We report a case of mononeuropathy multiplex due to interferon alpha (IFN alpha) therapy for chronic hepatitis C. A 61-year-old man received IFN alpha (natural type 6 x 10(6) IU), every day for two weeks and three times a week for 22 weeks by intramuscular injection. Seventeen weeks after the initiation of IFN alpha therapy, he noticed painful dysesthesia, muscle weakness and muscular atrophy of the left lower extremity. Neurological examination revealed weakness of the left iliopsoas, quadriceps femoris and femoral adductor muscles, hypesthesia and dysesthesia. Electromyogram showed neuropathic change in the left vastus lateralis muscle. Muscle computed tomography showed muscular atrophy of the left lower extremity. Two months after discontinuation of the IFN alpha therapy, dysesthesia and muscle weakness of the left lower extremity improved spontaneously. He was diagnosed as mononeuropathy multiplex of the left femoral nerve and obturator nerve caused by IFN alpha therapy. Attention must be paid to dysesthesia, muscle weakness and muscular atrophy when IFN alpha therapy is initiated.

Chronic Disease↗

PubMed1995

Comparison of multiplex PCR and culture for detection of Legionellae in cooling tower water samples.

We compared multiplex polymerase chain reaction (PCR) and culture for detecting the presence of Legionella pneumophila and Legionella spp in cooling tower water samples. Multiplex PCR was performed after phenol extraction of DNA from the samples. The set of primers for the PCR assay involved the 5S rRNA (Legionella spp) and the mip (macrophage infectivity potentiator gene, specific for L. pneumophila) genes as target sequences for amplification. Both the sensitivity and the specificity of the PCR assay were 100% when the 5S rRNA gene was used as target sequence. Isolation of Legionellae from the samples was observed only with the PCR-positive samples. We propose that PCR be used as a screening test before attempting to culture Legionellae from cooling tower water samples.

Air Conditioning↗

PubMed1996

Eruptive vellus hair cysts and steatocystoma multiplex. variants of one entity?

Eruptive vellus hair cysts and steatocystoma multiplex are two clinically similar conditions which show multiple papules and nodules, mainly located over the anterior chest wall. Most cases can be differentiated on histological examination, but in some patients overlapping histological features have been described. We present a patient who showed features of both entities and interpret this as suggesting that eruptive vellus hair cysts and steatocystoma multiplex are variants of one disorder which originates in the pilosebaceous duct.

Adult↗

PubMed1996

[Mononeuritis multiplex associated with measles virus infection].

We describe a 19-year-old patient who developed mononeuritis multiplex associated with measles virus infection. On April 30th, 1995, he suffered from fever and skin eruption, which disappeared ten days later. Thirteen days later, he noticed weakness of the fingers of both hands and forearms, and pain on both elbow joints. He was admitted to our hospital on June 12th, 1995. Neurologic examination revealed weakness and sensory disturbance, confined to the distal aspects of the right radial nerve and left median nerve. The electrodiagnostic findings confirmed those of axonal neuropathy in the right radial and left median nerves. Routine laboratory studies were normal. The cerebrospinal fluid test and EEG were normal. The IgG and IgM antibody titers against measles virus continued to be elevated in serum over four months after the onset, while they were not elevated in the cerebrospinal fluid. The corticosteroid therapy was mildly effective. Although the pathogenesis of this case is unclear, we speculate that the mononeuritis multiplex was caused by vasculitis related to the persistent measles virus infection in both elbow areas.

Adult↗

PubMed1996

[A case of sarcoidosis with cranial mononeuritis multiplex and peripheral polyneuropathy].

A 67-year-old woman with sarcoidosis, cranial mononeuritis multiplex and peripheral neuropathy was reported. The initial presentation of her sarcoidosis was a subcutaneous nodule of left knee joint on June, 1990. The number of subcutaneous nodules increased. Sarcoidosis was diagnosed by biopsy of the subcutaneous nodule. Paresthesia of the face and limbs appeared from November, 1991 and one month later, left abducens palsy and hearing disturbances were added. Alternate day therapy of 20mg prednisolone was effective in improvement of symptoms. The case of sarcoidosis with cranial mononeuritis multiplex and peripheral polyneuropathy was rarely found in 6 to 25% of patients with sarcoid neuropathy in the previous reports. Angiotensin-converting enzyme (ACE) in cerebro-spinal fluid not only raised on exacerbation also lowered with improvement of symptoms after steroid therapy. The ACE, which had a selective activity in the central nervous system, seemed to contribute to the index of treatment for sarcoidosis.

Aged↗

PubMed1996

Diagnosis and carrier detection in a Duchenne muscular dystrophy family by multiplex polymerase chain reaction and microsatellite analysis.

We used multiplex PCR and a microsatellite or STR analysis for diagnosis and carrier detection in a DMD family. Two affected patients both demonstrated deletion of exon 51 by multiplex PCR. The microsatellite or STR analysis showed that the mother and all sisters except the eldest sister of the patients carried the disease allelle. Therefore, all of them except the eldest sister were carriers. We present the need to introduce the molecular techniques to improve a mode of diagnosis and management of DMD patients in the Thai community.

Adolescent↗

PubMed1997

Grouper--creation of marker sets for multiplexed genotyping.

MOTIVATION: Efficient high-throughput genotyping experiments require the multiplexing of polymorphic markers, i.e. the use of multiple markers with non-overlapping allele size ranges in a single lane of a genotyping gel. The arrangement of such markers into sets can be facilitated by the availability of appropriate computer software. RESULTS: This article describes a program, Grouper, that automates the generation of marker sets for multiplexed genotyping experiments. AVAILABILITY: The software described in this article is available free of charge from the EBI software archive at (ftp://ftp.ebi.ac.uk/pub/software/unix).

Algorithms↗

PubMed1997

Multiplex systems for the amplification of short tandem repeat loci: evaluation of laser fluorescence detection.

Short tandem repeat (STR) loci are ideal markers for personal identification and for genomic mapping. Two fluorescent multiplex systems, each designed for simultaneous PCR amplification of four polymorphic STR loci (HUMCSF1PO, HUMTPOX, HUMTH01 and HUMVWFA31, and HUMF13A01, HUMFESFPS, HUMBFXIII and HUMLIPOL), were evaluated on three laser fluorescence detection instruments. Concordant DNA typing results were obtained with all three detection methods. These fluorescent multiplex STR systems offer an accurate, reproducible and versatile method of DNA profiling that is well-suited for forensic identity testing and other genetic analyses.

Alleles↗

PubMed1997

[Detection of mutation in dystrophin gene in Duchenne muscular dystrophy--multiplex PCR and Southern blot analysis].

The genetic defect responsible for Duchenne muscular dystrophy (DMD) can be identified as a partial deletion of the dystrophin gene in 50% of cases, or as a partial duplication in a further 10%. Multiplex PCR has been applied to screening of mutations in dystrophin gene, and it can identify 98% of deletions detected by Southern blot analysis. However, PCR cannot be available for quantifying DNA, so that detection of carrier status or duplication cannot be identified by multiplex PCR. Quantitative analysis of Southern blot hybridization is the most widely used and reliable method for detection of carrier and duplication mutation in dystrophin gene, but this method is a technically demanding procedure.

Blotting, Southern↗

PubMed1976

Steatocystoma multiplex.

Steatocystoma multiplex is a poorly understood clinical condition characterized by numerous cutaneous cysts. The lesions can be confused with milia, epidermal inclusion cysts, sebaceous cysts, dermoids, and the cysts of acne vulgaris. This patient has hypotrichosis and multiple milia-like cysts on the face and scalp, showing the histologic characteristics of steatocystoma multiplex.

Adolescent↗

PubMed1998

Total joint replacement in multiplex congenita contractures: a case report.

A 34-year-old man with multiplex congenita contractures underwent replacement of 2 hips and 1 knee. Even though a good range of movement was achieved at surgery and intensive physiotherapy, his joints returned to their preoperative status within 2 years. This outcome suggests that total joint replacement has little to offer the patient with multiplex congenita contractures who has immobile joints.

Adult↗