19 research outputs found
New developments in the pathology of malignant lymphoma: a review of the literature published from January to April 2008
Nd:YAG 1064-nm laser for residual infantile hemangioma after propranolol treatment
Abstract Infantile hemangiomas (IH) are common benign tumors of infancy. Most IH involute, either spontaneously, or secondary to pharmacological treatment with systemic propranolol. Propranolol treatment mostly leads to regression of hemangiomas with satisfactory aesthetic results, but unfortunately not in all cases. To assess the safety and efficacy of long pulsed Nd:YAG 1064 nm laser in treating patients with residual infantile hemangioma after systemic propranolol treatment. This is an open-label prospective cohort study. 30 patients with focal residual IH that had sub-optimal responses to systemic propranolol treatment were enrolled in the study. The patients were treated with 1 to 3 sessions with long pulsed Nd:YAG 1064 nm laser. The maximal response of the IH was assessed using a 4-point scale evaluation scale system. Of the 30 patients enrolled, 18 patients exhibited a great response (> 76% improvement), 10 patients had a good response (> 51–75% improvement), while only 2 patients showed a moderate response (< 50% improvement) to the treatment. No patients had an unsatisfactory response. No serious side effects were observed, and only minor side effects were reported. The treatment with long pulsed Nd:YAG 1064 nm laser for residual IH, which were resistant to systemic propranolol treatment, is safe and effective. Thus, we suggest its use as a second-line treatment for patients with sub-optimal aesthetic results following systemic propranolol
Rapid detection of homozygous mutations in congenital recessive ichthyosis
Congenital recessive ichthyoses (CRI) form a remarkably heterogeneous group of diseases, resulting from mutations in at least eight distinct genes, six of which have been identified so far. In the present study we ascertained two CRI families of Iranian and Druze origins. Exploiting the high degree of consanguinity characterizing these populations, we typed all family members for microsatellite markers spanning the major CRI chromosomal loci and used homozygosity mapping to identify candidate genes for subsequent mutational analysis. This strategy led to the rapid identification of two novel homozygous CRI-causing mutations in TGM1 (c.2058delC) and FLJ39501 (p.W521X). The present data demonstrate that the molecular analyses of CRI in consanguineous families can be readily completed in less than 96 h at relatively low costs
Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations
Background
The routine diagnosis of genodermatoses is significantly complicated by the fact that in this group of disorders, clinical manifestations may result from mutations in unrelated genes (genetic heterogeneity) and mutations in the same gene often lead to dissimilar clinical signs (phenotypic heterogeneity).
Methods
In this study, we applied the principles of homozygosity mapping as a screening method before formal mutational analysis in an attempt to facilitate the molecular diagnosis of genodermatoses in consanguineous families. The method was evaluated in a retrospective fashion in 4 families previously assessed with junctional epidermolysis bullosa and in a prospective manner in 11 families with congenital recessive ichthyosis.
Results
The method was found to be efficient in directing the molecular analysis to one of the 4 genes commonly involved in the pathogenesis of junctional epidermolysis bullosa or in identifying cases of congenital recessive ichthyosis caused by mutations in TGM1. We found that this diagnostic strategy results in a 5-fold decrease in the cost of mutation analysis.
Limitations
The proposed diagnostic strategy is applicable to consanguineous families only and, therefore, cannot be used in outbred populations.
Conclusion
Our results indicate that homozygosity mapping may serve as a useful adjunct in the molecular diagnosis of junctional epidermolysis bullosa or congenital recessive ichthyosis in inbred populations. This study emphasizes the usefulness in human genetics of diagnostic strategies tailored to the demographic features of target populations
Nonprescription acne vulgaris treatments: Their role in our treatment armamentarium—An international panel discussion
Background: Acne vulgaris (acne), a common inflammatory skin disorder, has its peak incidence between 14 and 19Â years of age, with girls frequently developing acne earlier than boys. Over recent years, persistent acne is becoming more prevalent in adult women. Objectives: This review and panel discussion addresses challenges in acne management, particularly in adult women. The role which nonprescription acne treatment can play is explored when used as monotherapy or as an adjunctive treatment for acne of all severity. Methods: The best available evidence on nonprescription acne treatment was coupled with the opinion of an international expert panel of dermatologists to adopt statements and recommendations discussed in this review. Results: All severity of acne has a significant burden on patients. Addressing environmental factors that are important for the individual with acne may help to educate, prevent, effectively manage, and maintain acne, as per the panel. They agreed that the adult female acne population has unique needs because of their aging skin and social environment. Nonprescription acne treatment products may help to balance the efficacy and tolerability of prescription acne treatment. Currently, there are no specific guidelines for how to use nonprescription acne treatment products in these patients. Conclusion: The panel agreed that guidelines including nonprescription acne treatment either as monotherapy for mild acne or in combination with prescription treatments for more severe acne would address a significant unmet need
An unusual case of immediate hypersensitivity reaction associated with an amalgam restoration
WOS: 000261108400015PubMed ID: 19023309This report describes a case of immediate hypersensitivity reaction associated with the mercury component of amalgam restorations. The release of mercury induced an acute reaction which resulted in erythematous lesions, severe burning and itchy sensation and difficulty in breathing. Skin patch test results indicated a very strong positive reaction to mercury. Amalgam restorations were replaced with composite filling material. The patient, her family and her dental practitioner were strictly advised to use alternative restorative materials in case of a need for restoration