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Biomedical subjects

P Puddu

Publications and source records attributed to P Puddu.

At least 109 records · Page 6Linked to original sources

Lipoid proteinosis: clinical, histologic, and ultrastructural investigations.

The case of a 12-year-old boy with lipoid proteinosis is reported. Physical examination revealed long-standing varicella-like scars and areas of hyperpigmentation on the face and upper limbs with no evidence of photosensitivity, hoarseness, small papules along the free margins of eyelids, tongue firmness with short frenulum, and widespread papular lesions of the oral cavity. Histologic and ultrastructural examination revealed the characteristic skin changes: pink, hyaline-like, strongly periodic acid-Schiff-positive material in the dermis, surrounding blood vessels, and sweat glands; thin (30 to 35 nm) collagen fibrils interspersed in abundant amorphous material; blood vessels surrounded by thickened, multilayered basement membranes, in which layers of typical, homogeneous basement membrane material were alternating with electronlucent areas filled by various amounts of thin, cross-striated fibrils, arranged perpendicularly. These findings are of great interest since they show a complex relationship between type IV and type III-like collagen components.

Child↗

[Evaluation of the efficacy and tolerance of doxazosin vs. enalapril inaged patients with light to moderate arterial hypertension].

The above study was performed as a single blind trial in 70 elderly patients (average age 66 years) who were randomized into two groups of 36 and 34 subjects respectively. After clinical and laboratory evaluation without treatment for at least two weeks, the two groups were treated with enalapril 5-10 or 20 mg daily plus doxazosin at the dosage of 1-2-4- or 8 mg daily; they were observed for 24 weeks. During the trial, pressure values, both systolic and diastolic, were seen to diminish significantly in both groups. This effect was accompanied by minor, usually transient side effects. At echocardiography at the end of the treatment period, doxazosin was found to reduce some volumetric cardiac parameters, thus showing to be apt to counteract left ventricular hypertrophy. These findings go to counteract left ventricular hypertrophy. These findings go to show that alpha-1 inhibitors are a valid alternative in the "first step" of antihypertensive therapy, especially in patients at risk for cardiovascular complications.

Age Factors↗

Interferon gamma upregulates its own gene expression in mouse peritoneal macrophages.

Interferon gamma (IFN-gamma) exerts a variety of immunoregulatory effects on several cell targets. It is generally assumed that IFN-gamma is specifically produced by T and large granular lymphocytes. In this study, we show that IFN-gamma is constitutively expressed in resting mouse peritoneal macrophages (PM). Treatment of PM with cycloheximide results in a significant accumulation of IFN-gamma mRNA, suggesting that a short-lived IFN-gamma mRNA accumulates when protein synthesis is inhibited. Moreover, treatment of PM with IFN-gamma also results in a clear-cut accumulation of this mRNA. This effect is not observed in murine lymphocytes from mesenteric lymph nodes (which instead produce IFN-gamma after phytohemagglutinin treatment) and in mouse cell lines. The treatment of PM with IFN-gamma also results in secretion of IFN-gamma after 24-48 h. The upregulation of IFN-gamma expression is also found in PM from anti-asialo GM1-treated nude mice. We suggest that the ability of PM to produce this IFN-gamma is indicative of an autocrine mechanism. The macrophage IFN-gamma may play a role in the regulation of cell differentiation and immune response.

Animals↗

Role of endogenous interferon-beta in the restriction of HIV replication in human monocyte/macrophages.

In vitro culture of human monocytes results in a time-dependent differentiation into macrophages. Monocyte/macrophages were infected with HIV-1Ba-L at different times after isolation and subsequent culture. When 7-day macrophages were infected in the presence of antibodies to interferon-beta (IFN-beta), a significant increase in HIV-1 p24 release was observed. This effect was not detected in 1-day monocytes. Treatment of 7-day cultured macrophages with HIV-1 rgp120 resulted in resistance to vesicular stomatitis virus infection. This rgp120-induced antiviral state was neutralized in the presence of antibodies to IFN-beta. The overall results indicate that the infection of monocyte/macrophages with HIV-1 results in the induction of IFN-beta, which, in turn, inhibits HIV-1 expression in macrophages. The finding that HIV-1 itself (possibly through its gp120) can induce a potent antiviral factor (IFN-beta) in macrophages underlines the complex physiological function of these cells in maintaining normal homeostasis in vivo in response to virus infection.

Acquired Immunodeficiency Syndrome↗

Dubowitz syndrome with keloidal lesions.

The case of a 7-year-old boy affected by Dubowitz syndrome is described. The characteristic features of the syndrome--intrauterine growth retardation, low neonatal weight, short stature, characteristic facies, atopic dermatitis and mental retardation--are discussed with reference to the absence of microcephaly and the presence of spontaneous keloids.

Abnormalities, Multiple↗

Induction of beta interferon by human immunodeficiency virus type 1 and its gp120 protein in human monocytes-macrophages: role of beta interferon in restriction of virus replication.

In vitro cultivated human monocytes show a time-dependent differentiation into macrophages, characterized by an increased expression of macrophage-specific antigens. Monocytes-macrophages were infected with human immunodeficiency virus type 1 strain Ba-L (HIV-1Ba-L) at different stages of differentiation. When 7-day cultured macrophages were infected in the presence of antibodies to beta interferon (IFN-beta), a significant increase in HIV-1 p24 release was detected. This effect was not observed in 1-day monocytes. This finding suggests that IFN-beta secreted by the infected macrophages inhibits p24 release. Treatment of cultured macrophages with recombinant gp120 (rgp120) protein resulted in the induction of IFN-beta mRNA and in an antiviral state to vesicular stomatitis virus. This rgp120-induced antiviral state was largely neutralized by antibodies to IFN-beta, whereas anti-IFN-alpha antibodies were ineffective. In cultured macrophages, 0.1 IU of IFN-beta per ml was sufficient to induce a marked inhibition of vesicular stomatitis virus yield, whereas this dose was ineffective in 1-day monocytes. These results indicate that (i) HIV-1 (possibly in part through its gp120 protein) induces low levels of IFN-beta in macrophages and (ii) this IFN-beta is very effective in inducing an antiviral state in differentiated macrophages.

Cell Differentiation↗

Brain and muscle energy metabolism studied in vivo by 31P-magnetic resonance spectroscopy in NARP syndrome.

Phosphorus magnetic resonance spectroscopy (31P-MRS) was used to study in vivo the energy metabolism of brain and skeletal muscle in two members of an Italian pedigree with NARP syndrome due to a point mutation at bp 8993 of mtDNA. In the youngest patient, a 13 year old girl with retinitis pigmentosa, ataxia, and psychomotor retardation, there was an alteration of brain energy metabolism shown by a decreased phosphocreatine content, increased [ADP] and decreased phosphorylation potential. The energy metabolism of her skeletal muscle was also abnormal, as shown by resting higher inorganic phosphate and lower phosphocreatine concentrations than in normal subjects. Her mother, a 41 year old woman with minimal clinical involvement, showed a milder derangement of brain energy metabolism and normal skeletal muscle. Findings with MRS showed that this point mutation of mtDNA is responsible for a derangement of energy metabolism in skeletal muscle and even more so in the brain.

Adenosine Diphosphate↗

Perianal streptococcal dermatitis: two familial cases.

Two familial cases of perianal streptococcal dermatitis in a 3-year-old girl and her 5-1/2-year-old brother are reported. The clinical features of well-demarcated perianal erythema variably associated with itching, painful defecation with subsequent constipation, rectal bleeding, and proctitis are reviewed, together with suggestions for the best therapy.

Anus Diseases↗

[Late thrombolysis in acute myocardial infarct: short and long term effects on left ventricular function].

Although the efficacy of intravenous thrombolysis in the treatment of acute myocardial infarction has been widely proved, some uncertainty concerning the "temporal window" of administration still persists. The aim of the present investigation was to study whether the late administration of a thrombolytic agent (6 or more hours after the onset of symptoms of acute myocardial infarction) offers any short or long-term advantages with regards to left ventricular function and clinical outcome. We studied 100 consecutive patients at their first episode of myocardial infarction, admitted to Coronary Unit within 24 hours of the onset of symptoms. Of these patients, 62 were administered rt-PA (44 patients within the 6th hour, and 18 between the 6th and 24th hour after the onset of symptoms) and the 38 remaining patients, who did not receive the thrombolytic agent (due to concerns with respect to possible complications), constituted the control group (18 admitted within 6 hours and 20 between 6 and 24 hours). All patients underwent serial electrocardiograms, and echocardiograms upon admission and at discharge to assess the ejection fraction, the asynergy score and the percentage of ischemic area. Furthermore, the survivors were invited for a follow-up examination one year after their acute initial episode. Seven cases of heart failure occurred, before discharge, among the control patients admitted 6 to 24 hours after onset of symptoms, compared with no cases in the subgroup of patients treated with rt-PA during the same time period (p = 0.0068).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

[Preoperative ultrasonographic measurement of melanoma thickness with 20 MHz probe].

The authors report on the preoperative evaluation of melanoma thickness with very high frequency US probes (20 MHz). Thirty patients with clinical suspicion of melanoma were examined preoperatively with US. The high quality of the images obtained with 20-MHz US probes allowed the lesions involving the superficial derma or, in more advanced cases, all derma, to be demonstrated and tumor thickness to be measured accurately. The latter is a major prognostic factor and indeed Breslow's classification is based on tumor thickness. The preoperative US study of melanoma thickness allows the surgeon to plan excision depth, which is necessary for accurate and safe tumor resection, that is, whose margins are proportionate to melanoma thickness. In the 30 patients submitted to preoperative US measurements of tumor thickness, US and histologic findings were in agreement. US overestimated melanoma thickness by 7 to 11%, which however had no impact on prognosis and surgical planning. While US can differentiate melanomas from other types of benign or malignant pigmented skin lesions such as blue nevus, pigmented basalioma or pigmented seborroic cheraosis, no unquestionable US signs have been found yet to differentiate melanoma from nevus, which makes US useless for the differential diagnosis. Nonetheless, surgeons can use preoperative US to adapt the exeresis of melanoma to its actual severity and to reduce scars to a minimum. Possible skin metastases can also be detected by US and thus removed.

Humans↗

Characteristics and possible significance of the answers to Rorschach from patients suffering from psoriasis.

The authors have tried to ascertain the statistical significance of the differences between the answers to H. Rorschach Psychodiagnostic tests given to 80 male and female adult patients, suffering from psoriasis and by 'normal' patients. The absolute frequencies and the averages of the results concerning 55 items obtained through the administration of Rorschach to patients with psoriasis were compared with the results of the test made to the general population. The analysis of the data and of the correlations has confirmed the hypothesis that the pathology of psoriasis, is (seriously) damaging, especially as regards the inhibitions, the cerebral potential, the emotional balance and the social relationships of the patient and furthermore, it can be related, ecologically, to problems concerning the identification-individualization process of the patient. This hypothesis has taken into account the high emotional value, in particular as regards the image of oneself, self-acceptance and self evaluation as well as social acknowledgement, and the communicative value given to the skin.

Adult↗

Psoriasis, stress and psychiatry: psychodynamic characteristics of stressors.

The aim of this investigation was to learn how a stressful event, often very mild, can determine a relapse of psoriasis. The research was carried out with clinical interviews and with the administration of Rorschach Psychoreactive, MMPI and H-T-P tests to 80 in-patients. Our data revealed a high prevalence of psychic disorders: 71.2% of patients showed symptoms which allowed a precise psychiatric diagnosis based on DSM-III-R criteria. 35% had personality disorders, 17.5% were moody, 12.5% were anxious and 6.25% had a schizophrenic trait. The analysis of the stressful events enabled us to determine the presence of a specific event in 88.7% of cases. For the majority of patients, the stressful event was felt as very mild: 67.6% of patients reported the existence of a low-impact stressful event according to the DSM-III-R classification. The average evaluation of the stressful event for all patients, based on a five-stage rating (ranging from 2 'light' to 6 'catastrophic') was 2.56. In conclusion, the analysis of the psychic conditions of in-patients showed that the importance in inducing an acute episode of psoriasis is the meaning of a stressful event as experienced by the patient, i.e. the questioning of his own identity, rather than the intensity of the aforementioned stressful event. In this case, the disease appears to be an attempt to express a defensive somatic response to a possible identity crisis.

Adult↗

[Perianal streptococcal dermatitis].

Perianal streptococcal dermatitis is a childhood disorder caused by group A beta-hemolytic streptococci which was first described by Amren in 1966. The incidence of this dermatosis, characterized by well defined erythema in the perianal area, has certainly been underestimated and to the authors' knowledge there have still been no reports of this pathology in Italy. Perianal streptococcal dermatitis merits attention given that affected subjects do not always receive appropriate treatment and on average there is a 6-month lapse between the appearance of symptoms and diagnosis. The authors present two cases which were recently referred to their attention and discuss the methods of contagion, the difficulties of clinical diagnosis, associations with other streptococcal disorders and the treatment of this morbid condition.

Anus Diseases↗

Immunologic changes in circulating leukocytes in the presence of atherosclerotic disease.

To assess the numeric and functional changes in circulating white blood cells in the presence of severe atherosclerosis, 25 subjects with marked, angiographically assessed, atherosclerotic lesions and 29 selected controls were studied. Of the differential leukocyte counts, only monocyte count was significantly higher in the atherosclerotic than in the control subjects (449.0 +/- 115.6 (1 S.D.) vs. 344.1 +/- 138.8/mmc; P = 0.0016). By flow-cytometry no significant differences concerning monocyte surface antigens were found, except a feeble decrease in beta 2-microglobulin in the atherosclerotic subjects. As to lymphocytes, an increase in the CD8 population (33.4 +/- 6.8 vs 28.6 +/- 6.5%; P = 0.0144) and decreases in class I HLA antigen (96.6 +/- 7.3 vs 99.4 +/- 0.7%; P = 0.0049), beta 2-microglobulin (97.9 +/- 2.1 vs 99.3 +/- 1.0%; P = 0.0055) and especially in vivo DNA synthesis (3.8 +/- 1.2 vs 5.3 +/- 2.1%; P = 0.0102) percent expressions were found in the atherosclerotic patients with respect to the controls. This study shows that circulating monocytes are increased in atherosclerotic disease, possibly due to their participation in the phagocytosis of lipids in the arterial wall, with no further immunologic involvement. Conversely, the replicative activity of T lymphocytes is decreased, which might be a consequence of or a factor predisposing to atherosclerosis.

Acute Disease↗

Vasotonic angina: a spectrum of ischemic syndromes involving functional abnormalities of the epicardial and microvascular coronary circulation.

OBJECTIVES: The present study was undertaken to investigate the response of large and small coronary arteries in a subgroup of patients with no or minimal coronary artery disease found to have objective signs of myocardial ischemia. BACKGROUND: Many patients apparently have normal coronary arteries despite abnormal electrocardiographic (ECG) changes during spontaneous anginal attacks or exercise stress testing. METHODS: Twenty-five patients with no or minimal (< 30% stenosis) coronary artery disease were chosen from a pool initially selected on the basis of spontaneous anginal attacks and ST segment shifts in the anterior leads. Of these, 10 were grouped as having variant angina (at least one episode of ST elevation) and the remaining 15 as having syndrome X (exercise-induced anginal pain, ST depression and reversible thallium abnormalities). Data were compared with those obtained in 10 patients with stable angina and documented coronary artery disease. Eighteen patients with supraventricular arrhythmias and normal coronary arteries served as control patients. Patients showing focal spasm during ergonovine testing were not included in the subsequent angiographic analysis. Great cardiac vein blood flow, aortic pressure and changes in coronary artery diameter were measured at rest and 2 to 4 min after hyperventilation in the remaining study group. The same procedure was repeated after sublingual administration of 0.3 mg of nitroglycerin in eight patients (four with syndrome X and four with variant angina). RESULTS: Hyperventilation induced diffuse epicardial coronary diameter reduction, which was marginal in control patients (9 +/- 4%) and those with coronary artery disease (5 +/- 3%) but severe (p < 0.001) in those with variant angina (28 +/- 14%) or syndrome X (25 +/- 13%). Concomitant determination of coronary blood flow showed significant (p < 0.001) decreases in those with variant angina (25 +/- 11%) and syndrome X (28 +/- 10%) but not in control patients (5 +/- 8%) or those with coronary artery disease (4 +/- 5%). Changes in great cardiac vein blood flow during hyperventilation were similar before and after nitroglycerin. CONCLUSIONS: These findings indicate that vasoconstrictor stimuli may trigger a diffuse abnormal response of both epicardial and resistance vessels in some patients with chest pain and angiographically normal coronary arteries. Patients showing such diffuse vasoconstrictor abnormalities are suggested to have a single pathogenetic entity with a spectrum of ECG manifestations ranging from ST depression to ST elevation.

Adult↗

Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family.

An Italian pedigree including two sisters and their mother affected by a neuro-ophthalmic disease characterised by retinitis pigmentosa, ataxia, and psychomotor retardation is reported. Molecular analysis of mitochondrial DNA showed the presence of heteroplasmic 8993 point mutation in the subunit 6 of the ATPase gene. The clinical features and genetic findings in this family were comparable with those recently described in an English family. The mitochondrial DNA analysis of the family showed a correlation between the amount of mutated DNA and the disease severity in the probands, and indicated the presence of a threshold amount of mutated genome inducing ophthalmic defects. Moreover, the comparative analysis of blood, hairs, muscle, and urinary tract epithelia of two probands revealed an essentially similar distribution of mutated and wild type mitochondrial genomes. Our results suggest that the 8993 mitochondrial DNA mutation characterises a disease with similar clinical features in different populations.

Adolescent↗