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Biomedical subjects

M J Trujillo

Publications and source records attributed to M J Trujillo.

34 records · Page 2Linked to original sources
PubMed2000

[Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes].

PURPOSE: Several families have been described in which a variety of retinal dystrophies were apparently caused by a mutation in the peripherin/RDS gene. We present clinical and genetic findings in a new family affected with a retinal dystrophy with features of retinosis pigmentosa, pattern dystrophy and fundus flavimaculatus in which a mutation in the peripherin/RDS gene has been ruled out. METHODS: A screening in the rhodopsin, peripherin/RDS and ROM1 genes was done in the affected members of the family by PCR amplification and SSCP (single strand conformation polymorphism) analysis. RESULTS: No mutation was found in any of the family members. CONCLUSIONS: Mutations in other genes may be involved in retinal dystrophies.

Adult↗
PubMed1999

Identification of three novel mutations in the MYO7A gene.

Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype.

Base Sequence↗
PubMed1998

[The Pro347Leu mutation of the rhodopsin gene in a Spanish family with autosomal dominant pigmentary retinosis].

We present a Spanish family affected with autosomal dominant pigmentary retinosis in which we have identified the mutation responsible for the disease (Pro347Leu) within the rhodopsin (RHO) gene. Complete ophthalmological and electrophysiological studies were performed in 14 members of this family. The molecular study, performed by SSCP analysis of the 5 exon and the promotor region of the rhodopsin gene, direct sequentiation and restriction analysis with the enzyme Mspl, showed a C-->T change in the second base of 347 codon of RHO gene. This mutation predicts a change of proline by leucine at this position. Every patient with the mutation showed a phenotype of diffuse, early onset and severe pigmentary retinosis with a little intrafamiliar variation. The Pro347Leu mutation, that has been very frequently described among all the populations, has been identified as a cause of RP in an Spanish family.

Adolescent↗
PubMed1998

Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online.

As part of a search for causative genes of familial pancreatic carcinoma, the p16 genes were sequenced in members of 21 families with a phenotype of familial pancreatic carcinoma (2 or more first degree relatives affected). One family was found in which members carried a novel p16 allele with a G to T transversion at position 451, creating a missense amino acid change at codon 145 (Asp to Cys) and possibly disrupting the donor splice site of the exon 2/3 boundary. This coding change is not a known polymorphism, and occurs at a codon position in which another missese/splicing change has been shown to be linked to familial melanoma/pancreas cancer.

Alleles↗
PubMed1998

Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.

A Spanish family with three Usher I syndrome-affected members was linked to markers located on chromosome 11q. A search for mutations on the myosin VIIA gene revealed a novel mutation (Cys628STOP) on exon 16 segregating with the disorder in a homozygous state. This nonsense mutation could be responsible for the disease since it leads to a truncated protein that presumably has no function.

Codon, Terminator↗
PubMed1998

Identification of two rare variants (G-->A at nucleotide 721; C-->T at nucleotide 5200) in the rhodopsin gene. Mutations in brief no. 187. Online.

The authors report two new rare DNA sequence variants in the Rhodopsin gene. This gene is involved in the pathogenesis of some retinal hereditary disorders as Retinitis Pigmentosa. These rare variants are G-->A at nucleotide 721 of the non-coding region and C-->T at nucleotide 5200 within codon 323 which does not alter the aminoacid cysteine. Therefore, they are not implicated in the development of the Retinitis Pigmentosa disease.

Adenine↗
PubMed1996

Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients.

A family affected with autosomal dominant retinitis pigmentosa (RP) is presented. Two clinically affected patients (mother and daughter) were heterozygous for the same novel missense mutation (Val137Met) of the rhodopsin gene (RHO). Both heterozygous and homozygous cases were observed among their few symptomatic relatives. Wide clinical variation was exhibited among the individuals with mutations in this family. None of the controls showed this change in RHO, nor has it been previously reported in other RP families. No other RHO mutation was observed. Additional genetic or environmental factors could play a role in modulating the penetrance and clinical expression of this RHO mutation.

Base Sequence↗
PubMed1996

G106R rhodopsin mutation is also present in Spanish ADRP patients.

A large family affected with autosomal dominant retinitis pigmentosa (ADRP) with a sectorial phenotype showed a previously described (G to A) mutation in the rhodopsin gene resulting in the substitution of a glycine residue by an arginine in codon 106 of rhodopsin. This mutation shows some unusual characteristics, such as initial pathology of the inferior retina, superior visual field with normal disc and retinal vessels, and ERG findings that show a modest reduction in both cone and rod amplitudes with normal implicit times. The Gly 106 Arg mutation has been previously reported in American and British patients. Its presence in a Spanish ADRP family confirms that it and its homogeneous associated phenotype are geographically widespread.

Adolescent↗
PubMed1995

Genetic instability of microsatellites in hematological neoplasms.

Genetic instability has been recently related to point mutations on genes involved in DNA repair pathway of errors produced during replication. These molecular alterations have been described in hereditary and sporadic colon carcinomas and related tumors. To examine genetic instability on lympho- and myeloproliferative processes, we analyzed the behaviour of 10 microsatellite markers and one VNTR on different chromosomes in 10 patients with non-Hodgkin lymphomas (NHL), one patient with acute lymphoblastic leukemia (ALL) and 10 patients with acute myeloid leukemia (AML). Mobility shifts were found in three of those cases. One of them showed genetic instability for several markers--microsatellites and VNTR- and the other two showed differences for only one marker. As a correlation between point mutations in MSH2 gene and the presence of genetic instability in hereditary non-polyposis colon cancer (HNPCC) and related tumors has been found, we analyzed the sequence of a conversed region of this gene in the cases showing this phenomenon. We only found a polymorphism, previously described, in 669 codon from cDNA.

Burkitt Lymphoma↗
PubMed1995

Polymorphic variations in peripherin-RDS gene in the Spanish population.

The authors report a study of polymorphisms in the peripherin-RDS gene in 21 Spanish families affected with Autosomal Dominant Retinitis Pigmentosa and 56 unrelated normal individuals. We found 3 variants in first exon and nine variants in the third exon in an SSCP analysis, all corresponding to different previously described polymorphisms.

Base Sequence↗
PubMed1980

Tetanus in the adult: intensive care and management experience with 233 cases.

Over a period of 10 years, 233 adult patients were treated for severe tetanus in this ICU. Criteria of severity, clinical patterns, and a detailed plan of treatment are outlined. The authors emphasize that such treatment implicates the permanent availability of trained personel in handling cardiorespiratory emergencies as well as prolonged mechanical ventilatory assistance in a specially designed environment (ICU). The form of therapy described herein seems to be the best currently available management regime, inasmuch as it can be expected to reduce significantly the notoriously high mortality associated with severe tetanus. Although this therapy is very expensive and time consuming, this is the price to be paid when the life of one of these patients is endangered. Complications are usually bizarre and unexpected. The authors found a high incidence of infectious respiratory complications, probably related to a change in the tracheal flora secondary to antibiotic therapy and a less than ideal care of tracheostomies. Unexpected cardiac arrest was the most common cardiovascular complication and also the most common cause of death; in the majority of these cases, a satisfactory explanation for this complication was not found, but it could have been related to overactivity of the autonomic nervous system.

Anti-Bacterial Agents↗
PubMedDate not supplied

Piroxicam-induced photodermatitis. Cross-reactivity among oxicams. A case report.

BACKGROUND: there is a group of patients with contact allergy to thimerosal (thiosalicylic acid and ethylmercuric chloride), thiosalicylic acid sensitized, who develop photodermatitis to piroxicam. We present a case which we have investigated cross-reactivity among different oxicams. METHODS AND RESULTS: a 44-year-old man with contact allergy to thimerosal. A few hours after the intake of Feldene (piroxicam) while running outside, developed a papuloerithematosus exanthema in the neck, knees and forearms, and microvesicles on the finger webs, that became descamative a few days later. Oclusive patch tests with thiosalicylic acid, mercury, piroxicam, tenoxicam, droxicam and meloxicam and photopatch test with the oxicams were performed. Patch tests with thiosalicylic acid and piroxicam were positive and negative with the others. All the oxicams photopatch tests were positive. CONCLUSIONS: we present a case of photodermatitis and dermatitis to piroxicam, in a patient with contact allergy to the thiosalicylic moiety of thimerosal, in which cross-reactivity with the other oxicams have been demonstrated. In cases of oxicams-induced photodermatitis, all oxicams should be avoided, to elude posible cross-reactions.

Adult↗
PubMedDate not supplied

Dietary recommendations for patients allergic to Anisakis simplex.

BACKGROUND: Anisakis simplex, a fish parasite, causes allergic urticaria, angioedema and anaphylactic shock through an IgE-mediated hypersensitivity mechanism. Consensus on the dietary recommendations that should be given to allergic patients is lacking. Our objective was to evaluate the usefulness of different types of diets in preventing further reactions in patients allergic to A. simplex. METHODS: Twenty-eight adult patients, who had suffered an allergic episode caused by A. simplex were asked to follow one of the following three diets for a mean period of 13.16 months: a fish-free diet (diet 1; n = 19), a diet including fish frozen for more than 48 hours (diet 2; n = 9) and a diet with fresh fish (diet 3; n = 12). In all patients raw fish was excluded. Relapse rates and changes in total serum IgE and specific IgE to A. simplex were studied during the follow up. RESULTS: During the 13-month follow-up none of the patients developed anaphylaxis. Urticaria symptoms were present in 5.8 %, 11.1 % (n.s) and 33.3 % (p = 0.016) of patients following diets 1, 2 and 3, respectively. Total IgE decreased by 64 % (p < 0.05), 48 % (p < 0.05) and 39.4 % (p < 0.05), respectively. Specific IgE to A. simplex decreased by 50.7 % (p < 0.05), 54.1 % (p < 0.05) and 23.6 % (p < 0.05) after diets 1, 2 and 3, respectively. No statistically significant differences were found among the groups in variations in total and specific IgE. CONCLUSIONS: Patients allergic to A. simplex can eat fish that has been frozen at -20 C for 48 hours without risk of a severe allergic reaction. Long term decreases in specific and total IgE may not be good markers of eventual contact with A. simplex.

Adult↗