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Biomedical subjects

M Delfino

Publications and source records attributed to M Delfino.

At least 19 recordsLinked to original sources

p53, cyclin-D1, PCNA, AgNOR expression in squamous cell cancer of the lip: a multicenter study.

BACKGROUND: The development of squamous cell carcinoma of the lower lip is an interesting model of photocarcinogenesis because of the structural and topographic characteristics of the lips. The purpose of this study was to evaluate the expression of immunohistochemical markers on the lips of patients with lower lip squamous cell carcinoma (LLSCC), compared with a control population. METHODS: Of the 98 subjects involved in the study, 58 were suffering from squamous cell carcinoma of the lower lip. The remaining 40 acted as a control. The case studies were taken from six university and hospital dermatology and plastic surgery departments. Questionnaires were administered to assess the risk factors for LLSCC. The cases involving squamous cell carcinoma underwent surgical excision and punch biopsy specimens were obtained from 20 control patients. Tissues were prepared in 5-microm-thick sections to carry out the following immunohistochemical study: PCNA, p53, AgNOR, cyclin-D1, bcl-2. RESULTS: The lower lip was the predominant location of squamous cell carcinoma, with the following factors playing important roles: chronic sun exposure, history of smoking, alcohol use and familial risk of cutaneous tumors. The male/female ratio in our survey was 5:1. The p53 protein was positive in approximately 50% of SCC cases and in 20% of controls. This protein is mostly associated with chronically photoexposed skin areas. AgNOR positivity increased with the loss of cellular differentiation; a progressive increase in size and a poorly defined shape were evident in poorly differentiated carcinomas. CONCLUSIONS: The results of this multicenter study showed that there is a noticeable difference in the expression of PCNA, p53, cyclin-D1, and AgNOR in tissues from patients with LLSCC and controls.

Aged↗

Effects of sildenafil (Viagra) administration on seminal parameters and post-ejaculatory refractory time in normal males.

Sildenafil is a specific inhibitor of phosphodiesterase (PDE) type 5 and represents a powerful therapy for male erectile dysfunction (ED) of different aetiology. Recently, sildenafil has been shown to restore erections in temporary ED related to the need of semen collection for assisted reproductive techniques. In this study, we investigated whether sildenafil administration modifies seminal parameters and/or erectile function in normal healthy volunteers. In a double-blind, randomized, placebo-controlled, cross-over two period investigation we enrolled 20 healthy male volunteers (mean +/- SE age 32 +/- 0.5 years). Subjects were not using any medication for the 3 month period prior to the study and were engaged in a stable relationship with proven fertility. The effects of sildenafil (100 mg) on seminal parameters and erectile function after audiovisual sexual stimulation were evaluated by semen analysis and by colour-Duplex ultrasound (the Resistive Index) respectively. In all subjects, sildenafil caused no changes in seminal and erection parameters when compared to placebo. Interestingly, sildenafil administration led to a marked reduction of the post-ejaculatory refractory time (10.8 +/- 0.9 min versus 2.6 +/- 0.7 min for placebo and sildenafil respectively; P < 0.0001). These results indicate that in normal subjects acute sildenafil treatment does not modify semen characteristics and has a positive influence over the resumption of erections following ejaculation in the presence of a continuous erotic stimulus.

3',5'-Cyclic-GMP Phosphodiesterases↗

Azoospermia: incidence, and biochemical evaluation of seminal plasma by the differential pH method.

BACKGROUND: Recent artificial reproductive technologies (ART) have enabled even azoospermic subjects to take part in "in vitro fertilization" programs. The aim of the present study was: a) to evaluate the incidence of azoospermic male partners of infertile couples; b) to determine whether biochemical evaluation of such azoospermic males can help to discriminate between obstructive and secretory azoospermia. METHODS: Semen samples (n. 28,339; period 1990-1997) were analyzed according to WHO guidelines. In addition, in 108 azoospermic subjects, fructose, citric acid and L-carnitine (taken respectively as markers of seminal vesicle, prostate and epididymal function) were assayed using a new, faster technique, the differential pH method. RESULTS: The incidence of azoospermic semen samples was 4.76%. The biochemical analyses were indicative diagnostically, especially with regard to obstructive azoospermia. However, in secretory azoospermia, biochemical analysis of seminal plasma did not offer particularly helpful indications, except in cases of hypogonadism. CONCLUSIONS: Azoospermia accounts for a relatively high number of cases and justifies detailed attention to the diagnostic and therapeutic approach. Biochemical analysis of the seminal markers is a valid support for differential diagnosis between secretory obstructive azoospermia. It can therefore help in the correct recruitment of such patients for ART programs.

Biochemistry↗

Increased [125I]sulpiride binding in the subthalamic nucleus of rats with nigrostriatal lesions.

Subthalamic nucleus (STN) hyperactivity follows lesions of mesencephalic dopaminergic neurons in animal models of Parkinson's disease. The mechanism leading to sustained STN hyperactivity in parkinsonism is not well understood, but it seems not to depend on the integrity of striato-pallido-subthalamic connections (the so called indirect pathway). Sustained STN hyperactivity could result from the loss of the direct dopaminergic innervation of the STN. Here we report increased [125I]sulpiride binding in the STN of rats with 6-hydroxydopamine (6-OHDA) lesions of mesencephalic dopaminergic neurons. Furthermore, we found that chronic oral treatment with levodopa reverted the lesion-induced increase in [125I]sulpiride binding. Our results demonstrate that most STN D2-class dopamine receptors are postsynaptic to afferent dopaminergic fibers. Furthermore, they suggest that alterations of local STN dopaminergic mechanisms could play a role in the pathophysiology of parkinsonism and mediate the therapeutic/adverse effects of chronic levodopa administration.

Administration, Oral↗

Apomorphine induces changes in GPi spontaneous outflow in patients with Parkinson's disease.

OBJECTIVE: To determine the effect of a single dose of apomorphine on internal globus pallidus (GPi) neuronal discharge in patients with Parkinson's disease (PD). PATIENTS AND METHODS: Nine PD patients who underwent microelectrode-guided posteroventral pallidotomy (PVP) were studied. After identification of a single GPi unit discharge with sufficient spike S/N ratio to allow reliable thresholding, basal recording was followed by a single 3-mg subcutaneous injection. One-minute samples were recorded 10', 30', and 60' after apomorphine. RESULTS: In four patients, recording was lost after 5-10 minutes. In two, changes were observed at peak-of-dose but recording was then lost, whereas three completed recording and returned to baseline, all five showing significant reduction in GPi firing rate (mean +/- standard deviation for basal and post-apomorphine were 143+/-55.6 and 52+/-19.2, respectively; p <0.002). CONCLUSION: In patients with PD, apomorphine induces changes in GPi spontaneous discharge and modifies firing rates resembling recordings in normal primates. These findings show that clinical improvement as well as induction of dyskinesias following DA administration could be mediated by reduction of GPi outflow.

Antiparkinson Agents↗

Clinical and dermatoscopic criteria for the preoperative evaluation of cutaneous melanoma thickness.

BACKGROUND: Melanoma thickness measured according to the Breslow method is used to determine surgical margin and in patient selection for sentinel node biopsy. Previous studies did not confirm the reliability of melanoma palpability for clinical prediction of tumor thickness. Recently we reported the usefulness of epiluminescence microscopy (dermatoscopy) for in vivo detection of the phases of melanoma progression, as well as tumor depth. OBJECTIVE: Our purpose was to determine whether the combination of clinical and dermatoscopic criteria could increase the accuracy in preoperative evaluation of melanoma thickness with respect to the clinical elevation and dermatoscopic assessments considered separately. METHODS: In a blind retrospective study, 122 cutaneous melanomas were studied to evaluate the presence of several clinical and dermatoscopic criteria and their relation with the histologic thickness. An algorithm of combined criteria was constructed and statistically assessed. RESULTS: Combinations of palpability, diameter of more than 15 mm, pigment network, gray-blue areas, and atypical vascular pattern allowed correct prediction of thickness in 89% of melanomas when categorized in two groups of less than 0.76 mm and more than 0.75 mm thickness, compared with 75% using palpability, and 80% using dermatoscopic criteria. Lower values were obtained in the further subdivision of melanomas into groups of 0.76 to 1.5 mm and more than 1.5 mm thickness. CONCLUSION: The combination of clinical and dermatoscopic criteria is a more precise guide for the preoperative evaluation of melanoma thickness than either is alone. However, further studies are needed to verify its applicability in establishing the surgical approach to cutaneous melanoma.

Adolescent↗

Dermatoscopic pitfalls in differentiating pigmented Spitz naevi from cutaneous melanomas.

Epiluminescence microscopy (ELM, skin surface microscopy, dermoscopy, dermatoscopy) is a valuable method for improving the diagnostic accuracy in pigmented skin lesions. Specific ELM criteria are already recognized for differentiating pigmented Spitz naevi (PSN) from cutaneous melanomas (CM). Our purpose was to describe the ELM appearance of a series of PSN with emphasis on PSN and CM with overlapping features. Thirty-six consecutive patients with PSN, and three cases of CM (selected from a larger database) exhibiting ELM 'spitzoid' features, were evaluated clinically, dermatoscopically and histopathologically. Most PSN (27 of 36; 75%) displayed two typical ELM patterns, namely, the starburst (19 of 36; 53%) or the globular pattern (eight of 36; 22%), which were correlated to different histopathological findings. In nine of 36 (25%) PSN, atypical ELM features which are more commonly seen in CM were observed. These PSN with an atypical pattern were characterized by an uneven distribution of colours and structures, and an irregular diffuse pigmentation resembling blue-white veil or irregular extensions (black blotches). These atypical lesions mostly occurred in children and showed no history of growth. In contrast, in three examples of CM, the typical ELM criteria of malignancy were less recognizable and either the characteristic starburst or globular pattern usually seen in PSN was present. These three lesions occurred in adults and had a recent history of change in colour, shape or size. The overlap in ELM features of some PSN and CM represents a major diagnostic pitfall when ELM examination is considered alone. In these atypical cases, clinical history including the age of the patient may be the only clue to enable a correct diagnosis.

Adolescent↗

Application of the upgraded image superimposition system (SIAS) to the assessment of sperm kinematics.

Dedicated software for semiautomatic objective motility assessment, based on image superimposition (SIAS), was upgraded in order to allow automatic reading of sperm tracks whilst keeping the advantages of visual check instead of the digital images of classic computer-aided sperm analysis (CASA) systems. The new system is very fast and accurate and allows an excellent reading of sperm motility in standard semen analysis. Moreover, using this system, an attempt was made to define numerically straight-line velocity (VSL), curvilinear velocity (VCL) and linearity (LIN) in each WHO sperm motility class. At 21 frames sec-1, ROC curves analysis determined the following: Class 1 (typical of WHO grade 'a'): VSL > or = 23 microns sec-1 and LIN > or = 0.58; class 2 (typical of WHO grade 'b'): VSL > 10 and < 23 microns sec-1 and LIN > or = 0.58; class 3: VSL > 10 microns sec-1 and LIN < 0.58 (this additional class was added to differentiate nonstraight progressive motility from classes 1 and 2); class 4 (typical of WHO grade 'c'): VSL < or = 10 microns sec-1. The numerical definition of sperm motility classes may contribute towards standardization in the objective evaluation of sperm kinematics.

Humans↗

Potentially malignant and malignant lesions of the lip. Role of silver staining nucleolar organizer regions, proliferating cell nuclear antigen, p53, and c-myc in differentiation and prognosis.

The cellular changes leading to carcinoma of the lip are still not completely understood. This study was carried out on 44 malignant and potentially malignant lesions of the lower lip [30 squamous cell carcinomas (SCC), 7 actinic cheilitis, 3 leukoplakias, and 4 nodal metastases from lower lip SCC]. Silver-stained nucleolar organizer regions (AgNORs) and the immunohistochemical expression of proliferating cell nuclear antigen (PCNA), p53, and c-myc were evaluated on formalin-fixed, paraffin-embedded sections. The results indicate that the size and numbers of AgNORs and the percentage of PCNA-positive cells are sensitive parameters for discriminating between potentially malignant lesions and SCC, and for the prognostic sub-typing of lower lip SCC. Furthermore, while p53 positivity was found more frequently in high-grade carcinomas, p53-positive cellular clones were also found in some potentially malignant lesions, a finding probably related to ultraviolet-related cellular damage. These p53-positive lesions could be considered at higher risk of progression to malignancy than the p53-negative ones, although there is no evidence for this as yet. c-myc positivity was found only in some high-grade carcinomas and metastases, and appeared correlated with the later phases of lip carcinogenesis. The combined evaluation of the proliferation status, together with the changes in p53 and c-myc oncoproteins, might constitute useful markers for the prognostic evaluation of potentially malignant, as well as malignant, lesions of the lip.

Adolescent↗

Marie Unna hereditary hypotrichosis.

Hereditary congenital hypotrichosis is an autosomal dominant pilar dysplasia first described by Marie Unna in an extended German family. The diffuse hair defect typically occurs as an isolated phenomenon and the ultrastructural hair findings consist of both torsion and longitudinal grooving of the hair shaft. A large pedigree comprising 6 generations with 20 members affected by Marie Unna hypotrichosis from Italy is reported.

Adult↗

Epiluminescence microscopy for the diagnosis of doubtful melanocytic skin lesions. Comparison of the ABCD rule of dermatoscopy and a new 7-point checklist based on pattern analysis.

OBJECTIVE: To compare the reliability of a new 7-point checklist based on simplified epiluminescence microscopy (ELM) pattern analysis with the ABCD rule of dermatoscopy and standard pattern analysis for the diagnosis of clinically doubtful melanocytic skin lesions. DESIGN: In a blind study, ELM images of 342 histologically proven melanocytic skin lesions were evaluated for the presence of 7 standard criteria that we called the "ELM 7-point checklist." For each lesion, "overall" and "ABCD scored" diagnoses were recorded. From a training set of 57 melanomas and 139 atypical nonmelanomas, odds ratios were calculated to create a simple diagnostic model based on identification of major and minor criteria for the "7-point scored" diagnosis. A test set of 60 melanomas and 86 atypical nonmelanomas was used for model validation and was then presented to 2 less experienced ELM observers, who recorded the ABCD and 7-point scored diagnoses. SETTINGS: University medical centers. PATIENTS: A sample of patients with excised melanocytic lesions. MAIN OUTCOME MEASURES: Sensitivity, specificity, and accuracy of the models for diagnosing melanoma. RESULTS: From the total combined sets, the 7-point checklist gave a sensitivity of 95% and a sepcificity of 75% compared with 85% sensitivity and 66% specificity using the ABCD rule and 91% sensitivity and 90% specificity using standard pattern analysis (overall ELM diagnosis). Compared with the ABCD rule, the 7-point method allowed less experienced observers to obtain higher diagnostic accuracy values. CONCLUSIONS: The ELM 7-point checklist provides a simplification of standard pattern analysis because of the low number of features to identify and the scoring diagnostic system. As with the ABCD rule, it can be easily learned and easily applied and has proven to be reliable in diagnosing melanoma.

Humans↗

A case of probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis.

We describe a woman with a probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis. Other findings included syndactyly, typical facies, dental abnormalities, dermatoglyphic hypoplasia, epidermal ridge sweat pore count slightly below normal, and keratosis pilaris. Clinical studies and genetic analysis excluded the diagnosis of tuberous sclerosis in our patient. We conclude that she has ectodermal dysplasia associated with mental retardation. This association has been described previously; it suggests the possible interrelationship of a community of ectodermal dysplasia syndromes with a distinctive structural hair abnormality (pili torti et canaliculi), variable midfacial malformations, limb defects, and other features such as mental retardation. The similarity of our patient to that described by Whiting et al. and Abramovits-Ackerman et al. suggests the autonomy of this syndrome.

Adult↗

X-linked ichthyosis: relation between cholesterol sulphate, dehydroepiandrosterone sulphate and patient's age.

Steroid sulphatase deficiency is a feature of recessive X-linked ichthyosis (RXLI) that causes the accumulation of sulphated steroids (SS) in various organs and cells. In a previous study, we detected elevated cholesterol sulphate (CS) and dehydroepiandrosterone sulphate (DHEAS) serum levels in a group of 15 RXLI patients selected in a narrow age range. In the present study both CS and DHEAS serum levels were qualitatively and quantitatively determined using gas-chromatographic analysis in a group of 33 RXLI patients ranging in age from 3 to 70 years. The levels of CS and DHEAS were significantly increased in all patients. Variations in SS were related both to patients' ages and clinical course of the disease; Serum SS levels start to increase in early infancy, peak at puberty, remain elevated in adults and decrease slightly in the elderly.

Adolescent↗

Hereditary multiple fibrofolliculomas, trichodiscomas and acrochordons: syndrome of Birt-Hogg-Dubè.

The syndrome of Birt-Hogg-Dubè (BHD) is an autosomal dominant syndrome, characterized by a triad of cutaneous lesions including multiple fibrofolliculomas, trichodiscomas, and acrochordons. There are many clinical expressions, solitary and multiple forms, with or without other skin tumors. In the literature BHD syndrome has been associated with internal malignancy. We describe a patient with multiple firm, skin-colored papules in which the three types of lesion are documented. No signs of systemic disease were present.

Fibroma↗

Epiluminescence microscopy. A new approach to in vivo detection of Sarcoptes scabiei.

BACKGROUND: The usual methods of scabies diagnosis include microscopic identification of the mites and their eggs and feces in skin scrapings. In many cases, the results of microscopic examination can be negative owing to the low number of parasites present in the cornified layer. Epiluminescence microscopy (ELM) is an in vivo technique that allows a detailed inspection of the skin, from the surface to the superficial papillary dermis. This is where the scabies mite lives. In this study, we evaluate the applicability and the usefulness of ELM for in vivo diagnosis of scabies. OBSERVATIONS: Sixty-five (93%) of 70 cases of scabies showed small, dark, triangular structures at the sites examined with ELM. A subtle linear segment seen below the base of the triangle was made visible by the presence of small air bubbles. Together, both structures resembled a jet with contrail. On traditional microscopic examination of the scrapings, we verified that the triangular structure corresponded to the pigmented anterior section of the mite in all cases. The linear segment observed on ELM was thought to be the burrow of the mite along with its eggs and fecal pellets. The cases in which the results of a first ELM examination were negative demonstrated positive results on a second ELM examination carried out 20 days later. CONCLUSION: Epiluminescence microscopy is a very useful tool for in vivo diagnosis of scabies because it permits Sarcoptes scabiei detection in only a few minutes, with no discomfort to the patient and with a very low number of false-negative results.

Animals↗

Epiluminescence microscopy: criteria of cutaneous melanoma progression.

BACKGROUND: Cutaneous melanoma develops through a series of evolutionary steps (intraepidermal, radial, and vertical growth phases) that are traceable in specific histologic features. Epiluminescence microscopy (ELM) is an in vivo technique that enables the visualization of morphologic structures in pigmented lesions correlated with specific histologic architectural characteristics. Many ELM criteria associated with cutaneous melanoma have been described, but their correlation with tumor progression has not yet been established. OBJECTIVE: In this preliminary study our purpose was to explore the possibility of recognizing ELM criteria that allow the in vivo detection of the various phases of melanoma progression as well as tumor depth. METHODS: Seventy-two cutaneous melanomas (41 "thin" melanomas [TnM], < 0.76 mm thickness, and 31 "thick" melanomas [TkM], > 0.75 mm thickness) were investigated with ELM for the presence of nine standard ELM criteria; their significance was determined by calculating the chi-square test of independence. RESULTS: A significant association is found between the presence of pigment network and TnM and between the presence of gray-blue areas, vascular pattern, and TkM. Moreover, pigment network plus radial streaming is the most significant association of ELM criteria in TnM, whereas gray-blue areas plus vascular pattern is the greatest in TkM. CONCLUSION: This study shows a good correlation between certain ELM criteria and the histologic architecture of cutaneous melanoma for a preoperative evaluation of the tumor thickness. Further investigation is needed for verifying on a larger number of cases our pilot estimates of sensitivity and specificity of ELM criteria in thin and thick melanomas.

Adult↗