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Biomedical subjects

A Carlino

Publications and source records attributed to A Carlino.

At least 19 recordsLinked to original sources

Interactions of liver Grp78 and Escherichia coli recombinant Grp78 with ATP: multiple species and disaggregation.

The hamster gene encoding the 78-kDa glucose-regulated protein (Grp78) was expressed in Escherichia coli as a fusion protein with glutathione S-transferase. After induction with isopropyl beta-D-thiogalactopyranoside, the recombinant Grp78 was purified to homogeneity by affinity column chromatography of the fusion protein followed by thrombin cleavage. The purified recombinant protein was compared with liver Grp78 for its ability to interact with ATP. Like liver Grp78, the recombinant protein contained a weak ATPase activity and a Ca(2+)-stimulated autophosphorylation activity. However, unlike liver Grp78, in which the autophosphorylation reaction is stimulated less than 50% by CaCl2, the reaction with the recombinant Grp78 was stimulated about 15-fold in the presence of Ca2+. Although the liver protein showed at least four isoforms after two-dimensional gel electrophoresis, the recombinant Grp78 had one major species corresponding to the most basic form seen in liver. Both the liver Grp78 and the recombinant protein existed primarily as monomers and dimers. A small amount of oligomers was also present in the liver Grp78. When either protein was incubated with ATP, there was a conversion of the higher molecular weight species to the monomeric form.

Adenosine Triphosphatases

A reappraisal of the use of 5-methoxypsoralen in the therapy of psoriasis.

5-methoxypsoralen (5-MOP) is considered an alternative to 8-methoxypsoralen (8-MOP) for photochemotherapy of psoriasis. We have compared the clinical efficacy and tolerability of 5-MOP (1.2 mg/kg)-UVA versus 8-MOP (0.6 mg/kg)-UVA therapy in 25 patients of skin type III and IV, affected by relapsing plaque-type psoriasis of similar body involvement; indeed, the same patients were given 8-MOP during 1 year and 5-MOP during the subsequent year after relapsing. Both treatments cleared psoriatic lesions with a comparable number of exposures, but 5-MOP required significantly higher cumulative UVA doses. The difference was due to the lower phototoxicity of 5-MOP, as assessed by the determination of the minimal phototoxic dose, and to its higher tanning activity, as assessed by the weekly grading of pigmentation. Nevertheless, therapy by 5-MOP-UVA seemed particularly interesting in that it showed a higher tolerability since only 1 patient experienced nausea, whereas during therapy with 8-MOP-UVA nausea and/or vomiting occurred in 7 patients, sunburn in 6 and itching in 3. Since we have treated the same patients with the two drugs, our results were not influenced by interindividual variations of phototoxic responses, tanning ability and susceptibility to develop psoralen-induced short-term side-effects. It was concluded that, although long-term side-effects of the 5-MOP-UVA treatment have still to be determined, such treatment of psoriasis should be reappraised due to its higher tolerability in comparison to 8-MOP-UVA treatment.

5-Methoxypsoralen

8-MOP vs 5-MOP.

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5-Methoxypsoralen

Multiple scattered granulomatous skin lesions in cat scratch disease.

We report a patient with cat scratch disease who presented with multiple scattered nodular lesions on the legs. Examination of skin biopsy specimens revealed a granulomatous pattern. In our opinion, this is a previously undescribed secondary cutaneous reaction of cat scratch disease. The pathogenesis of this reaction is unclear but some data suggest that the eruption might be caused by a hematogenous spread of cat scratch disease bacteria to the skin. Pathogenetic relationships with so-called bacillary angiomatosis, recently described in patients with acquired immunodeficiency syndrome, are reviewed here.

Cat-Scratch Disease

Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia.

Ectodermal dysplasias are a large and heterogeneous groups of clinically and genetically distinct syndromes. We studied a family suffering from dystrophies of the distal part of the nails and trichodysplasia. Scalp, beard, pubic and axillary hair were broken off leaving a stubble 1-10 mm in length. Eyebrows, eyelashes and body hair were completely absent. Serum levels of copper and plasma levels of amino acids were within the normal range. Inheritance was autosomal recessive. Previous reports of ectodermal dysplasias and other complex syndromes with pili torti are reviewed.

Abnormalities, Multiple

[Annular granuloma in HIV positive patients].

Pathogenesis of Granuloma Annulare is not resolved. In some Authors' opinion it is caused by an allergic granulomatous reaction to an unknown dermal antigen. Presence of Granuloma Annulare in patients with Human Immunodeficiency Virus (HIV) infection questions this hypothesis. We present two cases of such association and review eleven patients previously described in the literature. Clinical and histological findings suggest that the cell mediate immune response is not the dominant pathogenetic event, especially in cases of altered cell-mediated immunity.

Adult

[Eosinophilic pustular folliculitis. Description of a clinical case treated with PUVA therapy].

We report the case of a 62 years-old Italian man affected by crops of pruritic follicular sterile papulo-pustules on the face, trunk and arms. Histopathologic examination revealed a perifollicular inflammatory cell infiltrate composed mostly of eosinophils. These features are characteristic of eosinophilic pustular folliculitis. There is not any uniformly effective treatment for this condition. In our patient the disease did not respond to dapsone, H1 antihistamines and indomethacin. Oral corticosteroids gave good results but were unsuitable for their side effects. The response to PUVA therapy was excellent. In our opinion PUVA therapy is a highly effective and safety treatment for EPF.

Eosinophilia

[Epidermal nevus syndrome with multiple vascular hamartomas and malformations].

The authors described a 39 year old woman affected by epidermal nevus syndrome, with cutaneous (verrucous epidermal nevus), skeletal (thoracolumbar levoscoliosis and frontal bossing) and ocular (papillar coloboma and coroideal nevus) defects. Moreover the patient presented vascular malformations and hamartomas: lymphangioma circumscriptum of the mammary area, left peroneal Gorham's disease, artero-venous acral tumour of the left foot and multiple artero-venous shunts of the lower limbs. Since puberty, hemodynamic modifications have caused pseudo-Kaposi of Bluefarb-Stewart of legs and feet and malleolar painful ulcers. Solomon's epidermal nevus syndrome is an heterogeneous entity. In our opinion, this is the first case report with a severe vascular involvement.

Abnormalities, Multiple

[Segmental neurofibromatosis. Description of our 2d clinical case and review of the literature].

Segmental neurofibromatosis is characterized by the unilateral and segmental appearance of neurofibromas, schwannomas, plexiform neurofibromas and/or café au lait spots and axillary freckling. The aetiology is not clear but the disorder has been postulated to be secondary to a postzygotic (hence non-transmissable) somatic mutational event. In the present study we describe a 43 year old woman affected by neurofibromas on the left forearm. This is our second report of a case of segmental neurofibromatosis and occurs shortly afterwords the first. To the best of our knowledge only 28 additional cases of this very rare disease have been reported in the literature. Their main features are reviewed.

Adult

[Contact eczematous dermatitis caused by wheat and oats].

A 58-year old male patient was affected by a chronic dermatitis of the hands, forearms and face. Lesions appeared six months before when he started to work as a pizza-maker and worsened when he touched wheat-fluor and when he washed with an oats-derived detergent. He had a familial but not a personal history of atopic diseases. Both the Prick tests and RAST with oats and wheat flour produced positive responses. Protein contact dermatitis is a rare allergic disease caused by the contact with protein substances. It is often seen in patients working in the food industries or in the kitchens. Many of them have no other signs of atopy.

Arm

Antinuclear antibodies in psoriatic arthritis and its subgroups.

We tested serum samples from 48 patients with Psoriatic Arthritis (PA) for Antinuclear Antibodies (ANA) using a highly sensitive substrate (Hep-2 cells). We obtained the following results: 1) in PA patients ANA positivity (16.6%) was significantly higher than in age-and sex-matched groups of healthy controls (4.1%; p less than 0.05) and uncomplicated psoriasis (2%; p less than 0.025). 2) ANA were more common in Symmetrical Polyarthritis (37.5%) and Arthritis Mutilans (25%) than in Asymmetrical Oligoarthritis and Spondarthritis (11.8%) and 'Classical' PA (0%). 3) We did not find any positivity for anti-DNA and anti-ENA antibodies among PA patients.

Adult

[Multinodular keratoacanthoma].

Multinodular Keratoacanthoma is a variant of keratoacanthoma presenting with large annular plaques localized on the photo-exposed surfaces of the aged people. It is characterized by progressive growth of new nodules of keratoacanthoma at the periphery, while partial or complete spontaneous central healing occurs with scar formation. There is no tendency toward spontaneous regression. Multinodular Keratoacanthoma is quite rare. In our opinion only ten cases can be complied from the literature. We report an additional case in a diabetic 87 year old woman. She was previously affected by a vulvar squamous cell carcinoma. No recurrence was observed four months after the surgical excision.

Aged

[Persistent lymphedema of the penis and scrotum after recurrent episodes of cellulitis and urethritis caused by Chlamydia trachomatis].

A 20 year old man affected by a persistent peno-scrotal lymphedema is reported. This condition followed recurrent attacks of cellulitis and a chronic urethritis. From the urethral discharge we isolated Chlamydia trachomatis and, only during the attacks of cellulitis, Group G Streptococcus. This pathogen cannot be isolated from microflora of the normal urethra and rarely cause cellulitis. In our opinion Chlamydial infection favoured the urethral colonization of Group G Streptococci and their passage in the loose connective tissue of the penis and scrotum. Lymphedema, clinically inapparent before the first attack, become progressively more severe and recurrent attacks took place at intervals without obvious re-exposure to an exogenous source of streptococci. The operative treatment of persistent lymphedema is lymphangiectomy and lymphangioplasty.

Adult

[Van der Woude syndrome].

The familial occurrence of lower lip pits (fistulae, sinuses) with or without the cheilo-gnathouranoschisis complex (cleft lip and/or cleft palate) was first described by A. Van der Woude in 1954. The lip pits syndrome is inherited as an autosomal dominant trait with high penetrance (80%), but its clinical expression is variable. Sometimes there may be microforms with only conical elevation and/or surface openings without any deeper sinuses at the typical sites and without cleft lip/palate. We examined 8 members of an Italian family and we observed one member with lip pits and submucous cleft palate and 4 members with only lip pits. Three of these affected members had congenital absence of second premolars too. The presentation, mode of inheritance, aetiology and genetic significance of lip pits syndrome are reviewed. In our opinion this is the first Italian report of the Van der Woude syndrome.

Abnormalities, Multiple

Segmental neurofibromatosis. Case report and review of the literature.

Segmental neurofibromatosis (NF) is characterized by the strictly unilateral occurrence of features that are typical of the more ordinary forms of NF (i.e., NF-1, NF-2), including schwannomas, cutaneous or plexiform neurofibromas, and/or café au lait spots. That is, these features are found in only one or several dermal segments. We describe a case of a 68-year-old woman affected by neurofibromas restricted to the right lumbar region. After extensive investigations, including magnetic resonance imaging, we could rule out the presence of additional, more widespread lesions. Previous reports of segmental NF are reviewed.

Aged