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Biomedical subjects

J Solera

Publications and source records attributed to J Solera.

18 recordsLinked to original sources
PubMed1992

Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site.

DNA from a patient with severe hemophilia B was evaluated by RFLP analysis, producing results which suggested the existence of a partial deletion within the factor IX gene. The deletion was further localized and characterized by PCR amplification and sequencing. The altered allele has a 4,442-bp deletion which removes both the donor splice site located at the 5' end of intron d and the two last coding nucleotides located at the 3' end of exon IV in the normal factor IX gene; this fragment has been replaced by a 47-bp sequence from the normal factor IX gene, although this fragment has been inserted in inverted orientation. Two homologous sequences have been discovered at the ends of the deleted DNA fragment.

Adolescent↗
PubMed1992

Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.

Cystic fibrosis (CF) is the most frequent autosomal recessive inherited disorder in Caucasian populations. The disease is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. We have identified an 84-bp deletion in exon 13 of the CFTR gene, detected by DNA amplification and direct sequencing of 500 bp of the 5' end of exon 13. The deletion was in the maternal allele of a CF patient bearing the delta F508 deletion in the father's allele. The same 84-bp deletion could also be detected in the patient's mother. The deletion spanned from a four-A cluster in positions 1949-1952 to another four-A cluster in positions 2032-2035, including 84 bp which correspond to codons 607-634 (1949del84). The reported mutation would result in the loss of 28 amino acid residues of the R domain of the CFTR protein.

Alleles↗
PubMed1992

[Brucellar sacroiliitis. A detailed review with an analysis of treatment efficacy].

All patients diagnosed of brucellosis in 4 regional hospitals during a period of nine years were reviewed, in an attempt to evaluate the efficacy of different antimicrobic regimens and also the clinical features. Evolution and complications of brucellar sacroiliitis. Of a total of 548 patients, 12% had been diagnosed of sacroiliitis and, of theme, 49 had complete data available with efficacy of different treatments, the time elapsed until fever and pain ceased was evaluated, together with initial therapeutic failures, relapses and length of hospital stay. Brucellar sacroiliitis is the most frequent osteoarthral complication of Brucella sp. in our setting. Keeping an stable incidence. It is predominant among young male (82%) population (mean age 25 +/- 12 years). The illness evolution is acute and less frequently subacute with a evolution mean-time before referral of 38 +/- 44 days (minimum 4 days, maximum 180 days). Fever (81%) and pain on gluteus and low lumbar localizations (100%) are the more frequent clinical features. Time elapsed until pain ceased was longer with doxycycline plus rifampicin (68 +/- 86) than with doxycycline plus streptomycin (28 +/- 43) (less than 0.05) and length of hospital stay was also longer with said treatment (p less than 0.05). There were no differences concerning time frame until fever ceased, initial therapy failures and relapses. Sequelae are infrequent and consist in persistency of pain. In resume response to treatment with usual regimens, doxycycline plus streptomycin of doxycycline rifampicin is good, being however time elapsed until pain ceases of mean length in hospital stay shorter in the group receiving doxycycline plus streptomycin. Control studies to confirm these data are need.

Age Factors↗
PubMed1991

[Chronic necrotizing pulmonary aspergillosis caused by Aspergillus niger].

Chronic necrotizing pulmonary aspergillosis (CNPA), also known as semi-invasive pulmonary aspergillosis , is a recently defined entity. CNPA is characterized by a pulmonary infiltration with cavitation of chronic evolution in patients with chronic pulmonary disease, slight immunodeficiency or healthy patients. Good evolution is obtained with antimicotic treatment. The isolation of Aspergillus niger as a cause of CNPA is infrequent and may bear worse prognosis. A patient who presented CNPA by Aspergillus niger is described. The patient had received radiotherapy for epidermal carcinoma of the esophagus. Three other cases have been reported in the literature. The diagnostic aspects, treatment and prognostic factors of CNPA are commented upon.

Aspergillosis↗
PubMed1991

[A comparative therapeutic and multicenter trial of rifampicin and doxycycline versus streptomycin and doxycycline in human brucellosis].

BACKGROUND: Comparison and evaluation of the efficacy and safety of two treatment schedules in human brucellosis. METHODS: A comparative, randomized, multicentric, open study of 45 days doxycycline plus rifampin in the initial 21 days (group A) versus 45 doxycycline plus streptomycin in the initial 14 days (group B). 42 were included in each group. The diagnosis of brucellosis was based on blood culture or consistent clinical findings and a Wright's serum agglutination titer of 1/160 or greater. Clinical and laboratory monitoring was carried out, including blood cultures on the days 7 and 48 and after 3, 6, and 12 months. RESULTS: 38 patients in each group were evaluable at the end of treatment. 3 group A patients and 1 group B patient had initial therapeutic failure. 31 group A patients and 35 group B patients could be followed up during 6 months or more (mean follow up of 10.5 and 11.5 months, respectively). 9 relapses (29%) developed in group A and 2 (6%) in group B (p less than 0.05). 22 patients of the 34 finally evaluated in group A (65%) were considered as cured, versus 33 of the 36 in group B (92%) (p less than 0.01). Side effects not requiring withdrawal of the treatment developed in 12 patients, without differences between the two groups. CONCLUSIONS: In the therapy of human brucellosis, the association of doxycycline (45 days) and rifampin (21 days) is less effective than the classical association of doxycycline and streptomycin.

Adolescent↗
PubMed1991

Identification of a new haemophilia BM case produced by a mutation located at the carboxy terminal cleavage site of activation peptide.

We describe a novel point mutation due to C----G transversion at nucleotide 20518 in the exon VI of factor IX gene, resulting in the substitution of glycine (GGG) for arginine (CGG) at position 180 in the polypeptide. This point mutation was found in a patient with a haemophilia BM variant. We designated the altered factor IX produced by this new mutation as factor IXMadrid. This mutation blocks the cleavage site involved in the release of the activation peptide at Arg180-Val181. It also abolishes the Aval site (CTCGGG) in exon VI, which can be directly detected with the enzymatic DNA amplification technique (PCR) and offers the possibility of direct analysis in carrier and prenatal diagnosis in kindreds with this mutation.

Amino Acid Sequence↗
PubMed1990

[Mucormycosis. The disease spectrum in 13 patients].

Mucormycosis is an uncommon infection caused by fungi of the order Mucorales. During an 8-year period, mucormycosis was diagnosed in 13 patients from three Madrid hospitals. There were 8 males and 5 females, with ages ranging from 21 to 75 years (mean 45 years). There were several underlying diseases, and 4 patients had more than one. Five had diabetes mellitus, 4 chronic renal failure, 2 acute myeloblastic leukemia, 2 were narcotic abusers and were infected by the human immunodeficiency virus (HIV), 1 had non-Hodgkin's lymphoma, 1 was a carrier of a renal allograft and 1 had systemic necrotizing vasculitis. There were different clinical presentations: rhino-orbital in 3, paranasal in 2, cutaneous in 2, pulmonary in 2, primary cerebral in 2, rhinocerebral in 1, and peritoneal in 1. The diagnosis was made during the first week in 6 patients, in the second week in 4, and it was delayed for more than one month in 2. Fresh examination of clinical samples was carried out in 3 patients and hyphae were visualized in all 3. Cultures were taken in 10 patients and they were positive in 7. All isolates were identified as Rhizopus sp. One patient died within 24 hours without being treated, 12 were treated with amphotericin B and 9 received surgical therapy. Six patients (46%) died. The involvement of central nervous system and the absence of surgical therapy were associated with a poor outcome. These results indicate that mucormycosis can develop in several clinical contexts and has a varying clinical presentation. It is a potentially curable infections when early diagnosed and appropriately treated.

Adult↗
PubMedDate not supplied

Listeriosis in patients infected with human immunodeficiency virus.

Although resistance to Listeria monocytogenes infection requires intact T cell-mediated immunity, only 20 patients with human immunodeficiency virus (HIV) infection and listeriosis (including one patient described herein) have been reported to date. Listeriosis developed before AIDS in five cases. Syndromes included meningitis in nine cases, bacteremia in nine, brain abscess in one, and endocarditis in one. Eighteen patients were treated with ampicillin, penicillin, or amoxicillin with or without aminoglycosides. Clinical and microbiologic responses were obtained in one patient with bacteremia treated with vancomycin and in one patient with meningitis treated with trimethoprim-sulfamethoxazole. Three of the nine patients with meningitis died, as did the patient with brain abscess. All nine patients with bacteremia and the patient with endocarditis survived. No case of relapse was documented. L. monocytogenes, although uncommon, should be considered in the differential diagnosis of febrile illness, meningitis, and brain abscess in patients with HIV infection.

Adult↗