PubMed Health⌕ Search

Biomedical subjects

Michele Fimiani

Publications and source records attributed to Michele Fimiani.

At least 19 recordsLinked to original sources
PubMed2006

Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G.

We report a unique combination of symptoms in a case of Kabuki syndrome (KS), a multiple malformation/mental retardation syndrome that has a prevalence of 1:32,000 to 1:86,000. The patient was a mentally delayed 12-year-old male with trichrome vitiligo, ectodermal defect, and hypogammaglobulinemia A and G. This unique combination of signs, described here for the first time, indicates that KS comprises multiple deficits that affect not only the brain, but ectoderm-derived structures and the immune system as well. Our report may provide important clues for understanding the pathogenesis of the KS.

Abnormalities, Multiple↗
PubMed2006

In vitro toxicity evaluation of silver soldering, electrical resistance, and laser welding of orthodontic wires.

The long-term effects of orthodontic appliances in the oral environment and the subsequent leaching of metals are relatively unknown. A method for determining the effects of various types of soldering and welding, both of which in turn could lead to leaching of metal ions, on the growth of osteoblasts, fibroblasts, and oral keratinocytes in vitro, is proposed. The effects of cell behaviour of metal wires on osteoblast differentiation, expressed by alkaline phosphatase (ALP) activity; on fibroblast proliferation, assayed by the 3-(4,5-dimethylthiazol-2-yl)-5-(3-carboxymethoxyphenyl)-2-(4-sulphophenil)-2H-tetrazolium-phenazine ethosulphate method; and on keratinocyte viability and migration on the wires, observed by scanning electron microscopy (SEM), were tested. Two types of commercially available wires normally used for orthodontic appliances, with a similar chemical composition (iron, carbon, silicon, chromium, molybdenum, phosphorus, sulphur, vanadium, and nitrogen) but differing in nickel and manganese content, were examined, as well as the joints obtained by electrical resistance welding, traditional soldering, and laser welding. Nickel and chromium, known as possible toxic metals, were also examined using pure nickel- and chromium-plated titanium wires. Segments of each wire, cut into different lengths, were added to each well in which the cells were grown to confluence. The high nickel and chromium content of orthodontic wires damaged both osteoblasts and fibroblasts, but did not affect keratinocytes. Chromium strongly affected fibroblast growth. The joint produced by electrical resistance welding was well tolerated by both osteoblasts and fibroblasts, whereas traditional soldering caused a significant (P < 0.05) decrease in both osteoblast ALP activity and fibroblast viability, and prevented the growth of keratinocytes in vitro. Laser welding was the only joining process well tolerated by all tested cells.

Cells, Cultured↗
PubMed2006

Prevalence of skin allograft discards as a result of serological and molecular microbiological screening in a regional skin bank in Italy.

BACKGROUND: Postmortem skin is widely used in the treatment of patients with severe burns. Skin specimens must be screened for transmissible agents including human immunodeficiency virus (HIV), hepatitis B (HBV) and C (HCV) virus, human T-cell lymphotropic virus (HTLV), cytomegalovirus (CMV) and Treponema pallidum. METHODS: Four hundred and sixty-one cadaveric donors underwent serological and molecular microbiological (polymerase chain reaction, PCR) screening at Siena Skin Bank between 2000 and 2004. RESULTS: 74/461 donors (16.1%) were found ineligible under current regulations. CONCLUSIONS: These results are interesting in a local context and underline the importance of screening involving both routine serological procedures and molecular microbiological investigation. The latter has not been uniformly introduced in many countries and very limited data is available to assess its cost-benefit ratio in the field of skin donor screening.

Cadaver↗
PubMed2006

Cutaneous metastases from adenocarcinoma of the rete testis.

Adenocarcinoma of the rete testis (ACRT) is extremely rare and has only been the subject of sporadic case reports, in most of which the neoplasm manifested as a scrotal mass with diffuse enlargement of the testis. Only a few cases of scrotal infiltration by a contiguous ACRT have been described. To our knowledge, none have reported distant skin metastases. We report a case of ACRT presenting with suprapubic skin metastases. The diagnosis was based on clinical and histopathological findings and supported by the results of immunohistochemical and ultrastructural studies. We discuss the differential diagnosis to this rare entity, which include metastatic adenocarcinoma, serous tumor of the testis, and mesothelioma of the tunica vaginalis.

Adenocarcinoma↗
PubMed2006

Subcutaneous panniculitis lymphoma: erythema nodosum-like.

We report the case of a patient who presented with painful nodular subcutaneous lesions on the lower limbs and episodes of high temperature (> 39.5 degrees C). Histologic examination and immunohistochemical study of a biopsy specimen from a nodular lesion were consistent with the diagnosis of subcutaneous panniculitis-like T-cell lymphoma, a rare form of non-Hodgkin lymphoma. Diagnosis is made particularly difficult, especially in the early stages, by nonspecific clinical features shared by many types of panniculitis. Therefore, it seems advisable to consider the possibility of this type of lymphoma in all cases of panniculitis and to perform careful and continuous follow-up of all cases in which a clear diagnosis is not formulated at the outset, with regular repetition of skin biopsies at appropriate intervals.

Adult↗
PubMed2005

Global developmental delay, osteopenia and ectodermal defect: a new syndrome.

UNLABELLED: Global developmental delay is a serious social problem. It is often unrecognized and the phenotypes are inadequately studied. To investigate the phenotypes of children with aspecific central nervous system (CNS) impairment (poor speech, maladaptive behavioral symptoms such as temper tantrums, aggressiveness, poor concentration and attention, impulsiveness, and mental retardation). SETTING: Tertiary care hospital. PATIENTS: Three children (two male siblings, and one unrelated girl). METHODS: We used the results from clinical neurological evaluations; imaging and electrodiagnostic studies; metabolic and genetic tests; skin biopsies and bone mineral densitometry. All three children suffered from (A) global developmental delay, (B) osteopenia, and (C) identical skin defects. The skin ultrastructural abnormalities were abnormal keratin differentiation, consisting of hyperkeratosis and granular layer thickening; sweat gland abnormalities, consisting of focal, cytoplasmic clear changes in eccrine secretory cells; and melanocyte abnormalities, with both morphological changes (reduced number and size without evident dendritic processes), and functional changes (defects in the migration of melanosomes in the keratinocytes). These patients present a previously unrecognized syndrome. We retain useful to report this new association, to be recognized, in the next future, as a specific key-sign of a well-defined genetic defect.

Biopsy↗
PubMed2005

Igloo-like prepuce: a peculiar aspect of smooth-muscle hamartoma of the genitalia?

We report the case of a 16-year-old boy with 'igloo-like prepuce' and hypospadia, successfully treated by asymmetrical antero-posterior postectomy. Histopathological examination consisting of classical microscopy, immuno-histochemistry and electronmicroscopy of the surgical material provided insights into the etiopathogenesis of this rare disease.

Adolescent↗
PubMed2005

Acroangiodermatitis (pseudo-Kaposi sarcoma) associated with verrucous hyperplasia induced by suction-socket lower limb prosthesis.

Increasing use of suction-socket lower limb prostheses has been associated with an increased frequency of dermatological manifestations, linked to the fact that the skin of the amputation stump must adapt to an entirely new environment. In particular, verrucous hyperplasia and rare cases of acroangiodermatitis (pseudo-Kaposi sarcoma) have been described. We report a case of amputation stump dermatitis, clinically resembling verrucous hyperplasia, but with predominant histological aspects of acroangiodermatitis in a patient with a suction-socket lower limb prosthesis.

Acrodermatitis↗
PubMed2005

Cutaneous colorimetric evaluation of serum concentrations of bilirubin in healthy term neonates: a new methodological approach.

BACKGROUND: In recent years, many non-invasive instruments have been used to examine the correlation between transcutaneous bilirubin (TcB) measurements and serum concentrations of bilirubin (SB) in newborns with a view to reducing the need for blood samples. However, their exact role has not been univocal. The aim of the present study was to determine whether non-invasive measurement of skin colour combined with appropriate clinico-statistical methodology can be used to better quantify SB in the first days of life. METHODS: The study group consisted of 49 healthy term breast-fed newborns. Skin colour was measured with a Minolta CR-300 colorimeter and measurements were made in the first 12 h of life, at 48 h and in 13 babies at 96 h. To determine changes in SB from variations in skin colour between birth and 48 h (and also 96 h in 13 cases), a multivariate linear regression model was designed. To test the generalisation power of the regression model, we examined its predictive power for SB a third time (96 h; 13/49 cases) with respect to the previous two times. RESULTS: The model made it possible to recognise increases in SB accurately with a mean absolute error 0.99 mg/dL with a good generalisation power. CONCLUSIONS: The methodological model proposed here made it possible to accurately recognise increases in SB with respect to an initial value. Provided the methodological protocol is observed, TcB can therefore be used in the screening and follow-up of neonatal jaundice.

Algorithms↗
PubMed2004

Acral malignant melanoma and striated palmoplantar keratoderma (Brunauer-Fohs-Siemens syndrome): a fortuitous association?

BACKGROUND: Striated palmoplantar keratoderma or Brunauer-Fohs-Siemens syndrome is a very rare, focal, nonepidermolytic palmoplantar keratoderma with autosomal inheritance. Unlike other palmoplantar keratodermas, no association with visceral or skin cancer has ever been reported. OBJECTIVE: We report a case of malignant melanoma arising in the hyperkeratotic lesions on the right heel of a patient with striated palmoplantar keratoderma. The lesion was completely excised; our patient also underwent sentinel lymph node biopsy and then was treated with high-dose interferon adjuvant therapy. METHODS: Sentinel lymph node biopsy incision was made in elliptical fashion, long enough to harvest a full-thickness skin graft to cover the wide local excision defect. The skin graft was defatted by sharp dissection. Several perforations were made in graft and it was secured in place with sutures and bolster dressing. RESULTS: At follow-up, the grafted skin showed hyperkeratotic changes but no local or systemic signs of the disease was observed. CONCLUSION: The association between striated palmoplantar keratoderma and acral melanoma is discussed.

Diagnosis, Differential↗
PubMed2002

Digital dermoscopy analysis and artificial neural network for the differentiation of clinically atypical pigmented skin lesions: a retrospective study.

Noninvasive diagnostic methods such as dermoscopy or epiluminescence light microscopy have been developed in an attempt to improve diagnostic accuracy of pigmented skin lesions. The evaluation of the many morphologic characteristics of pigmented skin lesions observable by epiluminescence light microscopy, however, is often extremely complex and subjective. With the aim of obviating these problems of qualitative interpretation, methods based on mathematical analysis of pigmented skin lesions have recently been designed. These methods are based on computerized analysis of digital images obtained by epiluminescence light microscopy. In this study we used a digital dermoscopy analyzer with 147 clinically atypical pigmented skin lesions (90 nevi and 57 melanomas) to determine its discriminating power with respect to histologic diagnosis. The system evaluated 48 objective parameters used to train an artificial neural network. Using the artificial neural network with 10 variables selected by a stepwise procedure, we obtained a maximum accuracy in distinguishing melanoma from benign lesions of about 93%. Comparing this result with those of the many studies using classical epiluminescence light microscopy, it emerges that the method proposed is equal or even superior in diagnostic accuracy and has the advantage of not depending on the expertise of the clinician who examines the lesion.

Humans↗
PubMed2002

Skin allograft in the treatment of toxic epidermal necrolysis (TEN).

BACKGROUND: TEN is a severe form of exfoliative dermatitis. Its course is acute and its outcome fatal in 40% of cases. Wound cover to prevent fluid/protein loss and infections and to control pain, is the first step, as for burns. Skin allograft can be successfully used for this purpose. OBJECTIVE: We report two cases of TEN with de-epithelialization of 50 and 70% of the total body surface area. The patients were given support therapy and treated with human glycerol-preserved skin allografts for wound cover. METHODS: Patients were grafted with glycerol-preserved donor skin, obtained from a skin bank. RESULTS: Re-epithelization of treated areas was complete in 8 days; pain relief was obtained soon after the graft. CONCLUSIONS: Glycerol-preserved skin allograft is an effective treatment in extensive skin loss, for its barrier and analgesic effect. Quality standards of this product ensure safety and simplicity of use at limited cost.

Aged↗
PubMed2002

UVA light stimulates the production of cathepsin G and elastase-like enzymes by dermal fibroblasts: a possible contribution to the remodeling of elastotic areas in sun-damaged skin.

Solar elastosis is characterized by accumulation of large amounts of material staining similarly to elastin in the dermis. The nature of this material and the process responsible for its accumulation are still unknown. Elastolytic proteases have important functions in the catabolism of the interstitial matrix and can also generate, by the digestion of the interstitial proteins, soluble peptides which can induce collagen and elastin synthesis and deposition. We investigated whether (i) elastolytic enzymes can be detected in samples from sun-exposed and non-exposed skin, and (ii) ultraviolet (UV) rays influence the production of elastolytic activities in cultured dermal fibroblasts. Immunoelectron microscopy showed a positive reaction for neutrophil elastase and cathepsin G in fibroblast-like cells from specimens of sun-exposed areas. Little or no reaction was found in biopsies of sun-protected skin. Fibroblast cultures from sun-exposed skin expressed higher levels of hydrolytic activity against synthetic substrates of elastases and cathepsin G than those obtained from sun-protected areas. Irradiation with UVA strongly stimulated the production of these activities in fibroblasts from sun-protected sites. No significant change was detected in parallel sets of cultures after UVB irradiation. Inhibition experiments indicated that the elastase-like activity expressed by fibroblasts can be attributed to at least two enzymes.

Aged↗
PubMedDate not supplied

Other uses of homologous skin grafts and skin bank bioproducts.

The main use of homologous skin grafts or grafts of related bioproducts is in the treatment of severe burns. However, various new clinical and experimental sectors, in which this type of skin substitute can be useful, have recently emerged. The main new clinical indications for skin allografts include: skin loss, surgical wounds and bullous diseases. In these fields donor skin can be used for different purposes: as a physiological biological dressing to control pain and protect deep structures such as tendons, bones, cartilage and nerves, and to promote reepithelization with a significant reduction in healing time, and as skin substitute with dermal tissue to guide repair and make it as physiological as possible. In particular, skin bank bioproducts are currently used in the treatment of several conditions such venous and arterial leg ulcers, pressure ulcers, diabetic foot ulcers, pyoderma gangrenosum, post traumatic lesions, Mohs surgery, reconstructive surgery, wound cover in critical areas, aesthetic surgery, congenital epidermolysis bullosa and Lyell's syndrome. Skin bank bioproducts have also been used for experimental indications, to study in vitro toxicology and in vitro skin biology. Recently the demonstration that de-epidermized dermis (DED) has all the characteristics of an excellent dermal substitute into which various types of cells can be introduced and made to develop, opens exciting new possibilities of research in the field of wound healing and tissue engineering. Our preliminary observations seems to indicate that CD 34+ stem cells from umbilical cord blood can survive in DED and in a few weeks populate collagen bundles. The observation of tubular structures without lumina close to collagen bundles as well as clusters of epithelioid or fibroblast-shaped cells may represent aspects of differentiation of CD 34+ stem cells. More detailed and sophisticated studies are clearly needed to answer all the questions that these initial observations pose. Anyway the 3-dimensional model proposed seems to be suitable for the study of the behaviour of peripheral CD 34+ and perhaps also other types of stem cells in 3-dimensional dermal matrix.

Humans↗