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Biomedical subjects

A Peserico

Publications and source records attributed to A Peserico.

At least 55 records · Page 3Linked to original sources

Chronic granulomatous disease in an adult female with granulomatous cheilitis. Evidence for an X-linked pattern of inheritance with extreme lyonization.

We describe in this paper a female patient affected by chronic granulomatous disease with all the features of the classic X-linked form of the disease and presenting a mild form of the disease, the major clinical manifestation being a granulomatous cheilitis. The capability of the patient's phagocytes to undergo a respiratory burst in response to different stimuli was markedly depressed and only 10% of the patient's neutrophils were able to reduce nitroblue tetrazolium when stimulated with phorbol myristate acetate to an extent similar to normal cells. With this test, the neutrophils of the patient's mother showed a clear mosaicism, only 40% being able to reduce the dye. Activation of NADPH oxidase in cell-free systems showed that the phagocyte defect was at the level of a membrane component. Difference in spectra revealed that the observed membrane defect was due to a lack of cytochrome b558, the terminal component of NADPH oxidase. Incubation for 2 or 24 h of the patient's neutrophils with human recombinant interferon-gamma and granulocyte macrophage colony-stimulating factor did not correct their defective capability to undergo a respiratory burst However, cultivation of the patient's monocytes with interferon-gamma for prolonged times substantially enhanced their capability to produce hydrogen peroxide.

Adult↗

Prevalence of polycystic ovaries in women with acne.

The prevalence of polycystic ovaries was determined by pelvic ultrasound imaging in 119 women (mean age, 23.6 +/- 6.06 years; range, 14-45 years) with acne but with no menstrual disorders, obesity, or hirsutism, and in 35 healthy controls (mean age, 25 +/- 5.8 years; range, 21-40 years). Polycystic ovaries were found in 54 out of 119 patients with acne (45.37%) and in 6 out of 35 controls (17.14%). The results of this study indicate that polycystic ovaries are common in women with acne and not necessarily associated with menstrual disorders, obesity, or hirsutism.

Acne Vulgaris↗

Oesophageal motility and lower oesophageal sphincter competence in progressive systemic sclerosis and localized scleroderma.

Oesophageal motility and lower oesophageal sphincter (LOS) competence were investigated in 13 patients with progressive systemic sclerosis (PSS) and in 16 patients with localized scleroderma (LS) by means of oesophageal manometry and 24-h pH monitoring of the distal oesophagus. Results were compared with those of a control group consisting of asymptomatic volunteers. Marked abnormalities in oesophageal motility and in acid exposure in the distal oesophagus were observed in PSS patients only. The mean resting pressure of the LOS was 10.1 +/- 1.5 mmHg in PSS, 21.4 +/- 1.1 mmHg in LS, and 23.8 +/- 2.0 mmHg in asymptomatic controls. Overall sphincter length was 24.1 +/- 3.4 mm in PSS, 31.1 +/- 1.6 mm in LS, and 39.0 +/- 2.0 mm in the control group. Spincter abdominal length was 12.1 +/- 2 mm, 15.4 +/- 1 mm, and 25.0 +/- 1 mm, respectively. The amplitude and duration of oesophageal waves were markedly reduced at 5, 10, and 15 cm above the LOS in PSS patients, with only the upper part of their gullet being spared. An abnormal acid exposure in the distal oesophagus was observed in 84.6% of PSS patients, whereas only 18.2% (2 of 11) of pH-tested LS patients had an abnormal 24-h pH test. These data show that a marked oesophageal involvement is present only in the systemic form of scleroderma. Oesophageal tests may be useful for a circumstantial diagnosis whenever the diagnosis of PSS is uncertain; however, their use does not seem to be justified as routine in patients with LS.

Adult↗

Dietary behaviour in psoriatic patients.

Two hundred and nineteen psoriatic in-patients and 747 non-psoriatic subjects were asked to report in a semiquantitative, self-administered questionnaire on the frequency of consumption of different foodstuffs and cooking and seasoning fats and the daily intake of alcohol (glasses/day) and coffee (cups/day). According to this a definite score was assigned to each of the 46 food items, which were divided into five groups: carbohydrates (CH), low-fat foods (LFF), high-fat foods (HFF), saturated fats (SF) and polyunsaturated fats (PUF) and the alcohol consumption in grams/day was calculated. The mean scores for each food group and the means of alcohol (grams/day) and coffee (cups/day) intake were compared in the two groups, after age-adjustment through ANOCOVA. Psoriatic patients showed higher scores for HFF and SF in males and for CH, HFF, SF and PUF in females and a higher intake of alcohol in both sexes. These dietary habits could explain the higher prevalence of metabolic abnormalities in psoriatic patients.

Adult↗

Red blood cell membrane cation transport in normotensive psoriatics.

Psoriasis might be a widespread membrane disorder. To verify whether under the influence of psoriasis the red cell membrane cation metabolism is altered, we compared 46 psoriatics with 23 normotensive controls. A significant increase was observed in intracellular K+ content, in the maximal velocity of the Na(+)-K+ ATPase, of the Na(+)-K(+)-Cl- outward co-transport, of the Na+/H+ exchange, as well as in the outward passive permeability for Na+. No difference was seen between the two groups in Na+ content, Li+/Na+ exchange or in the passive permeability to K+. In 8 psoriatics treated with etretinate (10-75 mg/day for 1-36 months), Na(+)-K+ ATPase, Na(+)-K(+)-Cl- co-transport and the passive permeability for Na+ were not significantly different from controls. These results suggest that the primary abnormality might be an increased Na+ influx, in part through the Na+/H+ exchange, which is compensated by increased activity of outward transports, and confirm that the red cells are a useful model for the study of membrane transport in this disease. Our results indicate also that these membrane transport abnormalities can be corrected by etretinate treatment.

Adult↗

[Alopecia areata: appropriateness of various laboratory parameters].

Over the past four years 190 patients with alopecia areata have been examined: hematochemical parameters have been assessed in each patient and the possible presence of organ-and non-organ-specific circulating antibodies has been assayed. No significant alterations were found with regard to the different hematochemical parameters examined. On the other hand, a highly significant increase of anti-gastric parietal cell autoantibodies was observed in patients with alopecia areata and alopecia universalis in comparison to normal control subjects; in addition, patients with alopecia universalis showed a significant increase of anti-thyroid antibodies.

Adult↗

Relationship between body weight and blood pressure and some metabolic parameters in psoriatic patients.

The relationship between body weight and blood pressure, total serum cholesterol, triglycerides, uric acid and glucose was investigated in 203 psoriatic patients in comparison with 904 healthy controls. In the psoriatic patients, these parameters were clearly related to their body weight. Those psoriatic patients of normal weight exhibited lower mean values of all the parameters compared with overweight psoriatic patients while they did not differ from control subjects of normal weight. Our results suggest that only overweight psoriatic patients exhibit the metabolic abnormalities frequently reported in the literature, while psoriatic patients of normal weight do not differ from the general population in this respect.

Adult↗

Red blood cell sodium and potassium fluxes in psoriatic patients.

Psoriasis might be a widespread membrane disorder. Therefore, the red blood cell sodium, potassium and lithium outward fluxes (through Na-K-ATPase, Na-K-Cl co-transport, Li-Na countertransport and passive permeability), as well as the Na and K content, were studied in 31 psoriatic patients and 23 normal controls. A significant increase in intracellular potassium content, in the maximal velocity of the Na-K ATPase and of Na-K-Cl co-transport as well as in the outward passive permeability for Na were found in the psoriatic patients compared with controls. On the contrary, no differences were observed in sodium content, Li-Na countertransport and passive potassium permeability between the two groups. These results are compatible with a selective increase in inward, as well as outward, membrane permeability to sodium, which is compensated for by increased activity of the Na-K pump, and of the outward Na-K-Cl cotransport with a secondarily increased erythrocyte potassium content. They indicate that the red blood cell might be a useful model for the study of membrane transport in psoriatics.

Adult↗

Familial histiocytic dermatoarthritis. Histologic and ultrastructural findings in two cases.

We report the clinical, histological, and ultrastructural study of two patients, mother and daughter, 32 and six years old, respectively, who presented with dermatitis and arthritis. From the clinical point of view, they appeared to be affected by Familial Histiocytic Dermatoarthritis (FHD), a diagnosis supported by the early age of onset, familial occurrence, and a typical ocular lesion in the mother (glaucoma, uveitis, and cataracts). However, histology revealed the presence of multinucleated giant cells that are usually associated with Multicentric Reticulohistiocytosis (MR). Unlike MR, in the cases here reported the PAS positive, intracytoplasmic material appeared to be glycogen. Electron microscopy disclosed pleomorphic bodies, which have also been described in MR. Thus, we conclude that FHD and MR probably do not represent separate entities, and that a spectrum of disorders exists between these two conditions.

Adult↗