bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pathophysiology of scleroderma: an update
Authors: Haustein U.‐F. , Anderegg U. 
Published: September 2006

AbstractObjectives To review the pathophysiological background of systemic sclerosis in relation to the main, components involved: microvascular system, immunological system and fibroblasts of the connective tissue.Background Although many particular aspects of the pathophysiology of systemic sclerosis have been investigated in recent years, the complexity of the pathogenesis and the important links between the components involved remain unclear.Methods Literature review.Results and conclusion Scleroderma is a connective tissue disorder resulting in a progressive fibrosis of skin and internal organs. The genetic background is not clear. The microvascular system is one of the first targets involved (damage of capillaries, enhanced expression of adhesion molecules interacting with lymphocytes, perivascular infiltrates as starting points for tissue fibrosis). The immune system is unbalanced (selection of T‐cell subpopulations, elevated serum levels of several cytokines, occurrence of autoantigens to topoisomerase I, centromeric proteins and RNA polymerases). As far as autoimmunity is concerned the triggering autoantigen is still unknown. Development of connective tissue fibrosis is prominent (sub‐populations of fibroblasts with disturbed regulation of collagen turnover by TGF‐β, CTGF and collagen receptors (α1β1, α2β2)). Investigation of pathophysiology of scleroderma is effected by monitoring the serum levels for soluble mediators, by cell culture studies of affected and non‐affected fibroblasts and EC, by studying environmentally induced forms of scleroderma and by studies using animal models.
Aspergillus versicolor as cause of onychomycosis: report of 12 cases and susceptibility testing to antifungal drugs
Authors: Torres‐Rodríguez J.M. , Madrenys‐Brunet N. , Siddat M. , López‐Jodra O. , Jimenez T. 
Published: September 2006

AbstractBackground Onychomycoses caused by opportunistic moulds are not well understood, and many are due to Scopulariopsis brevicaulis and other species. Aspergillus versicolor is not documented as an etiological agent in most studies. We have found an increasing prevalence of this species which is involved in 5.8% of all fungal infections of toe nails.Objective To study the clinical and mycological characteristics of the onychomycosis caused by A. versicolor and the in vitro susceptibility of this mould to antifungal agents.Results Onychomycosis due to A. versicolor is mainly seen in people over 60 and presents with chronic involvement of the big toe nails. Predisposing factors are not always present and the infection does not respond to conventional topical antifungals. In vitro, A. versicolor has been shown to be resistant to griseofulvin and fluconazole as well as to amphotericin B, whereas MICs for itraconazole and ketoconazole are variable but within a range of 0.50–4.0 μ g/ml; on the contrary, MICs for terbinafine are very low (<0.125 μ g/ml).Discussion Aspergillus versicolor could be considered as an emergent pathogen causing toenail onychomycosis. Local treatment seems not to be effective. Of the various systemic antifungal agents studied terbinafine appears to be the most effective in treating onychomycosis.
Trichorhinophalangeal syndrome type I
Authors: George Soshamma , Pulimood Susanne , Korah Ipeson 
Published: September 2006

AbstractA 32‐year‐old short statured woman with alopecia, typical facies, shortened angulated fingers and toes with Trichorhinophalangeal syndrome type I (TRPS I) is reported. The absence of exostosis and mental retardation rule out TRPS II. The absence of generalized shortness of all phalanges, metacarpals and metatarsals distinguish it from TRPS III. Possibly the various types of Trichorhinophalangeal syndrome are genetically identical but have a varied clinical spectrum.
Clinical implications of the molecular biology of erythropoietic protoporphyria
Authors: Todd David J. 
Published: September 2006

AbstractAimTo review our present knowledge about the molecular genetics of erythropoietic protoporphyria.MethodsLiterature review.ResultsErythropoietic protoporphyria (EPP) is caused by decreased activity of the enzyme ferrochelatase and is characterized by distressing photosensitivity commencing in childhood. For reasons that are not yet fully understood, some patients develop potentially fatal acute hepatic failure. The gene for ferrochelatase has been cloned, sequenced and mapped to the long arm of chromosome 18. Subsequent molecular analysis has shown EPP to be very genetically heterogeneous, and 28 different mutations in 31 unrelated patients have been published. No mutation(s) in the ferrochelatase gene or elsewhere in the genome, or environmental factors have been conclusively associated with the development of protoporphyric hepatic failure. The complex inheritance of EPP has now been partially resolved. In the majority of families co‐inheritance of a mutant ferrochelatase allele from one parent and a low‐output ‘normal’ ferrochelatase allele from the other parent is required for disease expression. Gene therapy experiments have been completed in‐vitro and are in progress in an animal model of EPP.ConclusionEPP is a good example of how advances in molecular biology have led to a greater understanding of the pathogenesis and inheritance of disease. The most urgent need is to discover why some EPP patients develop hepatic failure. Gene therapy of EPP patients should become possible in the future.
The efficacy, tolerability and safety of a new oral formulation of Sandimmun®‐Sandimmun Neoral® in severe refractory atopic dermatitis
Authors: Atakan Nilgün , Erdem Cengizhan 
Published: September 2006

AbstractAim To investigate the efficacy, tolerability and safety of a new oral formulation of Sandimmun®‐Sandimmun Neoral® in severe refractory atopic dermatitis in an open, multicenter study.Methods The study was conducted in three parts. After 2 weeks of screening, Sandimmun Neoral® was commenced at a dose of 3 mg/kg per day and continued until remission or for a maximum of 8 weeks, after which the dose was reduced by half and continued for another 2 weeks and then discontinued. After the treatment period, patients were followed up first for 8 weeks and then until relapse or for a maximum of 24 weeks.Subjects Twenty‐three patients with severe refractory atopic dermatitis (15 females, eight males) mean age 27.2 ± 14.6 years (range 13–70 years) entered and 22 patients completed the study (one drop‐out due to withdrawal of consent).Results After the end of the full‐dose (mean duration 6.5 weeks) and half dose treatment periods, the SCORAD index decreased by 82 and 90%, respectively. Improvement started as early as at 2 and 4 weeks of treatment (mean reduction in SCORAD: 37.5 and 71.7%). At the end of the treatment phase, reductions in EDS, intensity of disease, DSS, pruritus, and sleep loss were 85, 88, 79, 85 and 96%, respectively. The overall efficacy was assessed as very good or good in 96 and 100% of the patients at the end of treatment and after 8 weeks follow‐up, respectively. During the follow‐up of 24 weeks after treatment, 73% of the patients had a relapse, whereas 27% were still in remission at the end of 24 weeks. In the 22 patients who completed the study, no adverse events were noted which would have necessitated dose reduction or drug withdrawal. Tolerability was assessed as very good or good in 91 and 96% of the patients, at the end of treatment and after 8 weeks follow‐up, respectively. Adverse events observed were: nausea (18%), hirsutism (9%), headache (4.5%), epigastric pain (4.5%), paresthesia (4.5%), furuncle (4.5%), and herpes labialis (4.5%). No significant changes in vital signs, hematological and biochemical parameters and serum creatinine were observed during the study except eosinophilia which was reduced by 40% towards the end of treatment.Conclusions Our results suggested that short‐term (8 weeks), low dose (3 mg/kg per day) Sandimmun Neoral® treatment is an effective, safe, and well‐tolerated treatment for atopic dermatitis refractory to conventional treatment modalities and can lead to long‐term remission of the disease in some patients. However, a double‐blind, placebo controlled, long‐term follow‐up study would be necessary to confirm these results.
Concentration of an epidermal growth factor in blood serum of males during topical treatment of psoriasis
Authors: Pietrzak Aldona , Miturski Roman , Krasowska Dorota , Postawski Krzysztof , Lecewicz‐Toru Barbara 
Published: September 2006

AbstractEpidermal growth factor (EGF) is a mitogen that stimulates cell division of various cells of epidermal origin. The present study was undertaken to clarify whether the serum level of EGF is correlated with the disease activity during local therapy with dithranol in psoriasis. We examined serum EGF concentrations in acute and chronic psoriasis before and after topical treatment with dithranol and the correlation with Psoriasis Activity and Severity Index (PASI). Male patients were divided into two groups: acute psoriasis (AP, 18 cases) and chronic psoriasis (CP, 17 cases). A control group C consisted of 20 healthy male volunteers. Radioimmunoassay of EGF was performed using the reagent pack (Amersham, UK). In the CP group mean EGF was higher before treatment than in the AP and C groups, but not significantly. EGF concentration after local treatment was higher in the CP group than the AP group (P < 0.02); the AP group, however, showed statistically significant decrease of EGF after the treatment (P < 0.04). No correlation between EGF and PASI was found. Serum EGF concentration increased in 19/35 treated patients.
Characterization of [3H]substance P binding sites in human skin
Authors: Bianchi Beatrice , Matucci Rosanna , Danesi Alessandro , Rossi Riccardo , Ipponi Pierluigi , Giannotti Benvenuto , Johansson Olle , Cappugi Pietro 
Published: September 2006

AbstractRadioligand binding experiments were performed with crude homogenates from normal human skin in order to investigate substance P receptor density. Binding of [3H]substance P ([3H]SP) reached equilibrium after 20 min and was saturable; analysis of saturation curves gave a significantly better fit using two‐site binding compared to the single‐site model. Competition studies employing some selective agonists for NK1, NK2 and NK3 receptors have demonstrated that only the NK1 selective agonist, [Sar9, Met(O2)11]‐SP, was a competitor for [3H]SP binding. In addition, the non‐hydrolyzable guanosine 5′‐0‐(3‐thiotriphosphate) altered the dissociation of SP from NK1 receptors by increasing the number of low‐affinity sites. These data show that in the skin [3H]SP binds to a single population of substance P high‐affinity sites, which represent NK1‐type receptors.
Umbilical endometriosis
Authors: von Stemm Andrea M.R. , Meigel Wilhelm N. , Scheidel Peter , Gocht Andreas 
Published: September 2006

AbstractCutaneous endometriosis is a well known but rare phenomenon. We present a case of spontaneous umbilical endometriosis. The patient revealed a polypoid, brown‐blue nodule within the umbilical depression with the typical history of monthly bleeding from the umbilicus. The differential diagnoses are summarized.
Keratosis palmoplantaris varians of Wachters
Authors: Paoli S. , Mastrolorenzo A. 
Published: September 2006

AbstractWe report a case of hereditary palmoplantar keratosis (HPPK) causing a progressive reduction of the prehension capacity of the fingers due to the presence of hyperkeratotic lesions which had appeared approximately 25 years earlier. These lesions, also involving the soles, appeared yellowish in color, linear or round in shape, symmetrical and often confluent, developed prevalently at the pressure points displaying a non‐transgrediens pattern. The histological examination, clinical picture and careful analysis of the literature enabled us to define this form as ‘keratosis palmoplantaris varians of Wachters'. As a contribution to a conclusive HPPK classification we discuss the differential diagnosis of this disorder most commonly identified through nummular‐linear keratoses also known as Siemens’ syndrome.
Stress‐induced SAPHO syndrome
Authors: Orion Edith , Brenner Sarah 
Published: September 2006

AbstractWe describe the case of a woman with the classic combination of features of synovitis‐acne‐pustulosis‐hyperostosis‐osteitis (SAPHO) syndrome, including pustulosis palmo‐plantaris and anterior chest wall involvement. The varying symptomology, etiology and pathogenesis of this syndrome and the contribution of stress are discussed. The authors ascribe the dearth of reported cases to lack of awareness and recognition of SAPHO, and not to the real incidence of the syndrome.
Familial primary cryofibrinogenemia
Authors: van Geest A.J. , van Dooren‐Greebe R.J. , Andriessen M.P.M. , Blomjous C.E.M. , Go I.H. 
Published: September 2006

AbstractBackgroundTo our best knowledge this is the second case ever described of familial primary cryofibrinogenemia (CFG).PatientsA 29‐year‐old Moroccan female and two of her three children suffered from painful purpura, slow healing small ulcerations and edema of both feet during the winter season. Laboratory investigations revealed the presence of cryofibrinogen in their blood plasma. All three patients were otherwise healthy and no associated disease could be demonstrated.ConclusionsThe diagnosis of CFG has to be considered in patients with livedo reticularis, edema, painful purpura and slow healing ulcera after cold exposure. Cryofibrinogen‐precipitates in the blood plasma have to be determined. Because secondary CFG occurs much more frequently than the primary form, it is important to rule out associated diseases through extensive physical examination and laboratory investigations. This communication also stresses the importance of a thorough family history of patients with CFG. An autosomal dominant mode of inheritance is supposed.
Systemic sarcoidosis presenting with multiple tattoo granulomas and an extra‐tattoo cutaneous granuloma
Authors: Papageorgiou P.P. , Hongcharu Wichai , Chu A.C. 
Published: September 2006

AbstractWe describe a 29 year old Caucasian man who developed cutaneous sarcoidosis manifesting itself as a tumour at the left outer canthus clinically mimicking a basal cell carcinoma and nine tattoo granulomas. Subsequent investigation revealed that the patient was also suffering from systemic sarcoidosis.
Congenital poikiloderma with unusual hypopigmentation and acral blistering at birth
Authors: Ogunbiyi Adebola O. , Ogunbiyi J. Olufemi , Baiyeroju‐Agbeja Aderonke M. 
Published: September 2006

AbstractCongenital poikiloderma is an uncommon hereditary disorder. It has been reported in association with various syndromes. No case has previously been reported from this environment. We report a case of congenital poikiloderma in a two and a half year old female Nigerian associated with unusual generalised hypopigmentation and acral blisters at birth. The child subsequently developed macular hyperpigmentation on an erythematous background and atrophy of the skin. Although she had some features which were suggestive of Rothmund‐Thomson syndrome (RTS), the presence of hypopigmentation at birth, along with acral blistering, was noted to be peculiar to this child. We, therefore, feel that this case presents a distinct variant of congenital poikiloderma that has not been described previously.
The new oral antifungal agents for onychomycosis of the toenails
Authors: Gupta Aditya K. , Shear Neil H. 
Published: September 2006

AbstractObjectiveTo review the use of the new oral antifungal agents, itraconazole, terbinafine and fluconazole for the treatment of onychomycosis of the toenails.BackgroundUntil about 10 years ago the two oral agents available to treat onychomycosis were griseofulvin and ketoconazole. Since then the new oral antifungal agents have superseded the traditional oral agents for the management of toenail onychomycosis.MethodsLiterature review.Results and conclusionItraconazole, terbinafine and fluconazole have been used approximately 100 million times to treat superficial mycoses. These agents are more effective than the traditional antimycotics for the treatment of pedal onychomycosis; furthermore, the new agents have a broader spectrum of action than griseofulvin. In general, itraconazole, terbinafine and fluconazole have a favorable adverse‐effects profile with drug interactions that are usually predictable and manageable. The new oral antifungal agents have a high benefit‐to‐risk ratio when used to treat toenail onychomycosis.
Psychological and sympatho‐adrenal status in patients with cystic acne
Authors: Schulpis Kleopatra , Georgala Sophia , Papakonstantinou E.D. , Michas T. 
Published: September 2006

AbstractBackgroundPatients with cystic acne (CA) frequently report feeling self conscious, anxiety and social isolation.MethodsMood characteristics as well as self‐esteem scores of 38 patients with CA were evaluated before and after 30 days treatment with isotretinoin. A high pressure, liquid chromatography method was used for the evaluation of catecholamines (epinephrine (E) and nor‐epinephrine (NE)) in the blood of the patients at the time of the study and in controls (n= 30) after their psychological testing. Moreover, E and NE were measured in the blood of eight healthy volunteers before and after 1 month ‘treatment’ with the drug.ResultsThe CA subjects evidenced anxiety and high catecholamine plasma levels (E = 98.0 ± 0.8 pg/ml, NE = 250.8 ± 56.6 pg/ml) before treatment compared to controls (E = 71.8 ± 23.0 pg/ml, NE = 190.0 ± 52 pg/ml, P < 0.006), and these levels were lower (E = 75.4 ± 21.4 pg/ml, NE = 202.0 ± 49.9 pg/ml, P < 0.001) when their psychological status returned to normal after treatment. No differences were observed in E and NE levels in the eight healthy volunteers who received the same dose of the drug at the same time of study.ConclusionsIt is suggested that not only the psychological status is influenced in subjects with CA but also their sympathoadrenal system.
The effect of proteolytic enzymes on hair follicles of transgenic mice expressing the lac Z‐protein in cells of the bulge region
Authors: Protopapa E.E. , Gaissert H. , Xenakis A. , Avramiotis S. , Stavrianeas N. , Sekeris C.E. , Schenkel J. , Alonso A. 
Published: September 2006

AbstractObjectiveTo study the effects of proteolytic enzymes on mice hair follicles, particularly on cells of the bulge area regarded as follicle stem cells.BackgroundPrevious application by iontophoresis of proteolytic enzymes on guinea pig skin resulted in degenerative effects on hair follicles and the hypothesis was proposed that some of the affected cells could be stem cells.MethodsTo mark putative stem cells transgenic mice were produced carrying the lac‐Z gene fused to the Upstream Regulatory Region (URR) of Human Papilloma Virus 11 (HPV11), as they express this gene specifically in the cells of the bulge area. Chymotrypsin and papain were applied on skin by iontophoresis, trypsin in the form of liposomes.ResultsEnzyme application, both by electrophoresis and as liposomes, led to intense degenerative effects of the hair follicle, such as detachment of the inner root sheath, cystic dilation of the hair shaft and presence of epithelial cells within the lumen. Some of these cells represent hair follicle stem cells expressing β‐galactosidase (β‐gal), having been detached from the bulge area as a result of enzyme treatment, implying impairment of their function.
A multidisciplinary vulva clinic: the role of genito‐urinary medicine
Authors: Sullivan A.K. , Straughair G.J. , Marwood R.P. , Staughton R.C.D. , Barton S.E. 
Published: September 2006

AbstractObjectivesTo characterise the new patient referrals to a combined vulva clinic and to assess the role of genitourinary services within the clinic.MethodsA case note review of all new patients attending a monthly, multidisciplinary vulva clinic over a 12‐month period.ResultsThe mean age of the 135 women was 43 years (range 18–86 years). The majority of patients, 64 (47%), were referred by their general practitioner (GP). Using nurse and physician triage 85 (63%) patients were seen by a dermatologist, 55 (41%) by a genitourinary medicine physician, 38 (28%) by a gynaecologist and six (4%) by a psychosexual physician. Fifty‐one (38%) women required a consultation by at least two specialties. Itch was the most frequent presenting symptom (70%) and 59 (44%) women had experienced symptoms for between 6 months and 2 years. A previous STD screen had been performed in only 57 (42%), which was negative in 45 (79%). The most frequent initial clinical diagnoses were lichen sclerosus (35, 26%), vaginal candidiasis (21, 16%), vulvodynia (16, 12%), lichen simplex chronicus (13, 10%) and Bowenoid papulosis (13, 10%). Thirty‐eight (28%) women had microbiological investigations revealing 13/135 (10%) had vaginal candidiasis and two (2%) bacterial vaginosis, all symptomatic. A biopsy was performed in 32 (24%) confirming the initial diagnosis in 20 (63%) cases. Treatment was initiated in 101 (75%) women: 62 (46%) were prescribed steroid cream, 46 (34%) emollient cream and 22 (16%) treatment for Candida infection. Fifty‐three (39%) women received more than one treatment. 94 (70%) patients were followed‐up in the vulval clinic, five (4%) in the genitourinary clinic and 12 (9%) by their GP.ConclusionsDespite having genitourinary symptoms less than half the patients had been tested for infection prior to attending the clinic. More than a third of the patients, 46 (34%), were diagnosed with a genitourinary infection. There is a significant role for genitourinary services in the diagnosis, management and ongoing care of patients in a vulva clinic.
Scleroderma‐like lesions in insulin‐dependent diabetes mellitus
Authors: Haustein U.‐F. 
Published: September 2006

AbstractWe report on two patients (one female 42 years, one male 47 years) suffering from insulin‐dependent diabetes mellitus (IDDM) for more than 20 years. Both patients exhibited sclerodactyly and sclerosis of the hands and lower arms as well as swelling and slight contracture of the distal interphalangeal joints. Interestingly, internal organs were not involved and auto‐antibodies characteristic for scleroderma were missing. Poor utilization and excess of glucose seem to be responsible for the activation of fibroblasts to produce abundant matrix proteins in the skin. Significant therapeutic improvement of the glucose metabolism was able to improve joint contractures or at least to stop the progression of skin changes in our patients. These skin changes should not be misdiagnosed as systemic sclerosis.