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Biomedical subjects

P Domenech

Publications and source records attributed to P Domenech.

25 records · Page 2Linked to original sources

Restriction fragment length polymorphisms of 16S rRNA genes in the differentiation of fast-growing mycobacterial species.

DNA from several species of fast growing mycobacteria displayed a characteristic restriction fragment length polymorphism (RFLP) pattern when hybridizated to a Mycobacterium fortuitum 16S rRNA gene fragment. The resulting patterns were identical when comparing different strains belonging to the same species. The RFLP results were consistent with those obtained by DNA-DNA hybridization studies. Using this approach, we have been able to identify the number of copies for 16S rRNA genes in several fast-growing mycobacteria.

Base Sequence↗

Insertion sequence IS1137, a new IS3 family element from Mycobacterium smegmatis.

A new insertion sequence (IS) has been isolated from Mycobacterium smegmatis. It is 1361 bp long and possesses characteristics of the IS3 family elements. It harbours 32 bp imperfect inverted repeats at its extremities and a 3 bp direct repeat flanks the element, possibly as the result of a transposition event. This IS, IS1137, contains three major ORFs. Two of them, ORF A and ORF B show homologies both at the amino acid sequence level and at the organization level with the ORFs encoding the transposase of the IS3 family elements. IS1137 has a narrow host range and was found only in M. smegmatis and M. chitae. The fact that IS1137 is not present in the M. tuberculosis complex strains makes this element a new candidate for transposon mutagenesis in mycobacteria.

Amino Acid Sequence↗

Hairy cell leukemia and autoimmune hemolytic anemia.

A case of hairy cell leukemia (HCL) presenting as autoimmune hemolytic anemia (AHA) is described. A 40-year-old woman presented with severe hemolytic anemia. The morphological and immunological studies of bone marrow and spleen revealed a hairy cell leukemia. Although autoimmune diseases are a well known complication of HCL this is the first description of AHA as a complication of HCL.

Adult↗

Lack of useful clinical predictors of response to splenectomy in patients with chronic idiopathic thrombocytopenic purpura.

We set out to identify clinical or analytical variables that might predict the response to splenectomy in patients with chronic idiopathic thrombocytopenic purpura (ITP). We retrospectively examined 138 mostly adult patients with chronic ITP, treated with splenectomy. Information was compiled from five Public Health Hospitals from a questionnaire and chart review. Sixty-one potentially prognostic variables were analysed by univariate and multivariate statistical methods. After multivariate analysis, age (relative risk = 1.02; CI 1-1.03) and a severity of the bleeding diathesis (relative risk = 1.6; CI 1.13-2.22) were independent prognostic factors for a sustained response to splenectomy. An independent analysis of the postsplenectomy counts showed that an early (days 1-3) thrombocyte count exceeding 156 x 10(9)/l cells increases the likelihood of a permanent unmaintained response. Our data indicate that the response to splenectomy in patients with chronic ITP cannot be adequately predicted on the basis of pre-splenectomy clinical or analytical variables.

Adult↗

[Munchausen syndrome induced as recurrent imipramine poisoning].

A nine-year-old girl with Munchausen syndrome by proxy is reported. She had been admitted to different hospitals for 17 times in the last seven years. Clinical complaint were complex neurological symptoms and the first diagnosis was acute intermittent porphyria. It was demonstrated later that this symptoms were due to imipramine poisoning given by her mother.

Child↗

[Keratosis follicularis spinulosa decalvans (Siemens' syndrome) associated with other abnormalities].

Keratosis follicularis spinulosa decalvans (ichthyosis follicularis or Siemens's syndrome) is considered a general form of keratosis pilaris decalvans. Localized types are keratosis pilaris atrophicans and atrophoderma vermicularis. A case of this unusual process is presented. Clinical, histological and scanning electron microscopic studies of the hair were performed. Clinically, a generalized hypotrichosis with hyperkeratotic follicular plugs is observed; especially in the scalp and the eyebrows. Other interesting clinical findings were cutis hyperelastica, gingival hypertrophy, mongoloid palpebral fissures, big pinnae and clinodactyly of the 5th finger. From the histological point of view we observed follicular plugging, dystrophic pilosebaceous follicles, absence of sebaceous glands, perifollicular fibrosis and minimal lymphomonocytic infiltrate. Scanning electronmicroscopy shows a brittle hair with cuticular abnormalities. Siemens's syndrome can be considered a specific pilosebaceous dysplasia because the absence or hypoplasia of sebaceous glands; which produces follicular hyperkeratosis and pilar atrophy with perifollicular fibrosis and alopecia.

Abnormalities, Multiple↗