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Biomedical subjects

A Peserico

Publications and source records attributed to A Peserico.

At least 37 records · Page 2Linked to original sources
PubMed1996

Central nervous system dysmyelination in PIBI(D)S syndrome: a further case.

This is a report of new case of PIBI(D)S, a rare autosomal recessive syndrome characterized by photosensitivity, ichthyosis, brittle sulfur-deficient hair (trichothiodystrophy), impaired intelligence, decreased fertility, and short stature. Bilateral cataract and axial osteosclerosis were also detected. Magnetic resonance imaging (MRI) revealed diffuse central nervous system dysmyelination, a finding also described in the only three other reported cases in which MRI was performed. The paper also considers certain similarities in neurological signs and neuroradiological findings between PIBI(D)S, Cockayne syndrome, and xeroderma pigmentosum--all of which are inherited diseases characterized by photosensitivity and DNA repair defect.

Brain↗
PubMed1995

Anticardiolipin antibodies and antiphospholipid syndrome in chronic discoid lupus erythematosus.

Anticardiolipin antibodies (aCL) of immunoglobulin (Ig) G and M classes were determined in 28 patients affected with chronic discoid lupus erythematosus (CDLE), comparing their prevalence and levels to those in 60 healthy subjects matched for age and sex. A high and significant frequency of IgG (67.8%) and IgM (50.0%) aCL together with prevalence of high antibody levels was found in CDLE patients, while healthy controls had IgG and IgM aCL in 1.6% and 3.3% of cases respectively. Clinical features in keeping with the diagnosis of antiphospholipid syndrome were found in one patient (3.5%), which, as the first manifestation of the syndrome, showed a pulmonary thromboembolism which appeared some days after prolonged exposure to the sun. These results provide additional data on autoimmune phenomena in CDLE and suggest that aCL test should be considered as useful aids in immunological diagnosis of CDLE.

Adult↗
PubMed1994

Mild balanoposthitis.

AIM: To identify and study cases of mild balanoposthitis (MBP) with penile pathology among patients observed at a dermatology clinic over an 18-month period. MATERIALS: The study included 321 patients with penile pathology. The term MBP was used to describe balanoposthitis of a localised, inflammatory nature with few, non-specific symptoms and a tendency to become chronic or recur. Two hundred and seventy had diseases clearly identifiable by clinical examination or laboratory tests; 51 cases were diagnosed as MBP and these patients had blood tests (to evaluate immune status) and microbiological examination; when these proved negative, a series of patch tests was also used. RESULTS: Of the 51 patients diagnosed as having MBP, the cause was ascertained in 34 cases (infection, mechanical trauma, contact irritation, contact allergy, etc.), whereas no specific aetiological factor was detected to explain the symptoms in the remaining 17 cases.

Adolescent↗
PubMed1994

Imipramine in alopecia areata. A double-blind, placebo-controlled study.

Alopecia areata (AA) is a dermatologic disease whose onset is significantly associated to life events. Its course may often be characterized by high levels of anxiety and depression. These observations suggested a rationale for using an antidepressant in AA. Thirteen patients were enrolled in a double-blind, placebo-controlled study of efficacy of imipramine in alopecia. After six months clinically significant hair regrowth occurred in 5 of the 7 patients on imipramine, whereas no response was observed in the placebo group. An improvement in psychic symptomatology was present in both groups. Our preliminary results indicate the potential efficacy of imipramine in patients with AA, not acting directly through a reduction of anxiety or depression.

Adult↗
PubMed1993

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

Trichothiodystrophy (TTD) is a rare autosomal recessive disease characterized by brittle hair with reduced sulfur content, mental and physical retardation, a peculiar face and ichthyosis. Photosensitivity has been reported in approximately 20% of the cases in the literature. DNA repair investigations demonstrated that clinical photosensitivity is usually associated with an enhancement of the cellular UV-sensitivity and that the repair defect is in the same gene as in patients from group D of xeroderma pigmentosum (XP). In this paper we describe the characterization of 13 further TTD patients; a defect in the nucleotide-excision repair was observed in fibroblast strains from 10 patients, confirming that TTD is frequently associated with DNA repair defects. Genetic analysis based on complementation studies demonstrated the presence of the XP-D defect in seven repair-defective TTD cases, indicating definitively that the concurrence of TTD with XP-D is not a sporadic or casual event. However, three further cell strains (TTD4VI and TTD6VI from two French siblings and TTD1BR from an English patient) showed restoration of normal UV-induced DNA repair synthesis after fusion with XP or TTD cells belonging to XP group D. These observations, which give the first indication that TTD is associated with repair defects behaving differently in the functional test of complementation, suggest some kind of causal connection between defective excision-repair factors and clinical features diagnostic for TTD. A peculiar aspect of TTD in which repair deficiencies are not related to an increased susceptibility to cancer is confirmed also in all the repair-defective TTD patients investigated in this paper.

Abnormalities, Multiple↗
PubMed1992

MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S.

PIBI(D)S is a acronym for a very rare autosomal recessive syndrome consisting of photosensitivity, mild non-congenital ichthyosis, brittle cystine-deficient hair, impaired intelligence, occasionally decreased fertility and short stature. We report a 12-year-old female patient affected by PIBI(D)S with previously unreported MRI findings of central nervous system dysmyelination.

Basal Ganglia↗
PubMed1992

Family history, smoking habits, alcohol consumption and risk of psoriasis.

We have conducted a multicentre case-control study to assess the epidemiological importance of previously suggested risk factors for psoriasis, including family history of the disease, smoking and alcohol consumption. Newly diagnosed psoriatics, with a history of skin manifestations no longer than 2 years were eligible as cases; as controls we selected subjects with newly diagnosed dermatological conditions other than psoriasis. Interviews were performed by trained medical investigators using a structured questionnaire. Two-hundred and fifteen cases, aged 16-65 years (median age 38), and 267 controls, aged 15-65 years (median age 36), were interviewed and included in the analysis. Family history was a risk factor for psoriasis; the multiple logistic regression (MLR) adjusted-odds ratio was 18.8 (95% confidence interval 6.4-54.8) for a history in parents, and 3.2 (95% confidence interval 1.5-6.6) for a history in siblings. The risk of psoriasis was higher for current smokers than for those who had never smoked. The MLR adjusted odds ratio was 2.1 (95% confidence interval 1.1-4.0) for people smoking 15 cigarettes or more per day. The risk of psoriasis was higher for alcohol drinkers: compared with teetotallers the MLR adjusted-odds ratios were 1.3 (95% confidence interval 0.8-2.3) for subjects drinking one or two drinks/day and 1.6 (95% confidence interval 0.9 to 3.0) for those drinking three or more. However, the trend in risk was not statistically significant. Our study confirms the role of family history in psoriasis and provides some evidence of a dose-response relationship for an association between smoking habits and psoriasis.

Adolescent↗
PubMed1992

Linear alopecia mucinosa along Blaschko lines.

We present a case of linear reversible non-inflammatory alopecia mucinosa in a 25-year-old Nigerian patient. The patient exhibited an arciform bald patch on the scalp and follicular mucinosis in both lesions. The possible relationships between the unusual linear arrangement of alopecia mucinosa along Blaschko's lines and lichen striatus are discussed.

Adult↗
PubMed1991

Prevalence and characteristics of anti-single-stranded DNA antibodies in localized scleroderma. Comparison with systemic lupus erythematosus.

Prevalence, levels, and immunoglobulin classes of anti-single-stranded DNA antibodies were determined by an enzyme-linked immunosorbent assay in 52 patients with localized scleroderma (33 with morphea, four with generalized morphea, and 15 with linear scleroderma), in 60 healthy controls, and, for comparison, in 31 patients with systemic lupus erythematosus. Localized scleroderma revealed a significant prevalence of anti-single-stranded DNA antibodies, mainly characterized by high levels and IgM and IgA isotypes. Comparison of antibody characteristics in different clinical forms of localized scleroderma showed some significant differences (levels and immunoglobulin isotypes). Comparison with systemic lupus erythematosus showed that frequency, high levels, and IgG isotype of anti-single-stranded DNA antibodies significantly prevailed in systemic lupus erythematosus, while the IgM isotype significantly prevailed in localized scleroderma. However, generalized morphea and linear scleroderma did not significantly differ from systemic lupus erythematosus as regards antibody frequency and prevalence of high antibody levels.

Adult↗
PubMed1991

Hypomelanosis of Ito: involvement of chromosome aberrations in this syndrome.

The authors report on cytogenetic results of six patients with hypomelanosis of Ito. Karyotypes from peripheral lymphocytes prometaphases and skin fibroblasts metaphases were normal. A review of the literature revealed no specific chromosomal abnormality but a close association between mosaicism and HI syndrome. The X-chromosome was involved in 53% of the abnormal cases.

Child↗
PubMed1990

Sensitivity of cultured lymphocytes from patients with nevoid basal cell carcinoma syndrome to ultraviolet light and phytohemagglutinin stimulation.

DNA repair and replication after in vitro UV irradiation were determined in cultured peripheral blood lymphocytes from 6 patients with nevoid basal cell carcinoma syndrome (NBCCS) and from a group of control donors. DNA repair synthesis (UDS) was measured in unstimulated lymphocytes by incubation with 3H-TdR in the presence of hydroxyurea for 3 and 6 h after UV irradiation (6-48 J/m2). DNA replication was measured in PHA-stimulated lymphocytes, UV-irradiated or mock-irradiated, by incubation with 3H-TdR for 24 h. The effect of the mitogen was followed during 5 days after stimulation by determining the incorporation of 3H-TdR, the increase of cell number, and the mitotic index. NBCCS and control lymphocytes showed equal sensitivity to UV light in terms of UDS and reduced response to PHA. On the contrary, the mitotic index and the number of cells in stimulated cultures were significantly lower in the affected subjects. These data suggest an altered progression along the cell cycle, which could be characteristic of stimulated NBCCS lymphocytes.

Adolescent↗
PubMed1990

Hypomelanosis of Ito and hemimegalencephaly.

Hypomelanosis of Ito is a congenital neurocutaneous syndrome with a particular pattern of swirling hypopigmentation. Multiple extracutaneous abnormalities involving the central nervous system, the eyes, and musculoskeletal structures occur in over two-thirds of the cases. This report describes two patients with typical unilateral cutaneous lesions associated with extracutaneous features, including hypertrophy of the cerebral hemisphere contralateral to the cutaneous hypopigmentation. Magnetic resonance imaging and EEG findings support the diagnosis of hemimegalencephaly, as has recently been reported in other isolated cases of this rare phakomatosis.

Brain↗