FRA2A is a CGG repeat expansion associated with silencing of AFF3

Folate-sensitive fragile sites (FSFS) are a rare cytogenetically visible subset of dynamic mutations. Of the eight molecularly characterized FSFS, four are associated with intellectual disability (ID). Cytogenetic expression results from CGG tri-nucleotide-repeat expansion mutation associated with local CpG hypermethylation and transcriptional silencing. The best studied is the FRAXA site in the FMR1 gene, where large expansions cause fragile X syndrome, the most common inherited ID syndrome. Here we studied three families with FRA2A expression at 2q11 associated with a wide spectrum of neurodevelopmental phenotypes. We identified a polymorphic CGG repeat in a conserved, brain-active alternative promoter of the AFF3 gene, an autosomal homolog of the X-linked AFF2/FMR2 gene: Expansion of the AFF2 CGG repeat causes FRAXE ID. We found that FRA2A-expressing individuals have mosaic expansions of the AFF3 CGG repeat in the range of several hundred repeat units. Moreover, bisulfite sequencing and pyrosequencing both suggest AFF3 promoter hypermethylation. cSNP-analysis demonstrates monoallelic expression of the AFF3 gene in FRA2A carriers thus predicting that FRA2A expression results in functional haploinsufficiency for AFF3 at least in a subset of tissues. By whole-mount in situ hybridization the mouse AFF3 ortholog shows strong regional expression in the developing brain, somites and limb buds in 9.5-12.5dpc mouse embryos. Our data suggest that there may be an association between FRA2A and a delay in the acquisition of motor and language skills in the families studied here. However, additional cases are required to firmly establish a causal relationship

The concept of liposuction in limb lymphoedema treatment

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

The sternalis muscle in head and neck reconstruction [9]

SCOPUS: le.jinfo:eu-repo/semantics/publishe

Desmoid tumor of the breast after reconstruction with implant [6]

SCOPUS: le.jinfo:eu-repo/semantics/publishe

Basal cell carcinoma of the dorsum of the hand

Although extremely frequent elsewhere on the body, basal cell carcinomas are infrequent on the hands (< 1% of all basal cell carcinomas). Chronic sun exposure is considered as the main etiologic factor for its development but it does not explain low frequency of hand involvement. Presented here is a series of seven patients with basal cell carcinoma of the hand. All were treated by surgery alone. Clinical presentation was classical: a slowly growing chronic ulceration. None of the patients was chronically exposed to chemical agents but two of them developed their tumour in previously irradiated areas, focusing on this specific etiologic factor for basal cell carcinomas of the hands.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Complete fibular regeneration following removal of the fibula for bone grafting

Major bone defects may be reconstructed by either vascularized or not vascularized fibula grafts. No much attention is done so far to the donor site. This article emphasizes on an interesting observation, where almost total regeneration of a subperiosteally harvested fibula graft occurred within the first three postoperative months.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

T4 basal cell carcinoma of the forearm

Basal cell carcinoma represents the most common cutaneous malignancy. Most of these tumors are small, easily treated skin lesions that occur on sun-exposed skin. Giant basal cell carcinoma is a rare variant of this tumor that is most often observed on the trunk. Neglect appears to be the main causative factor for such an exceptional presentation. A patient with a T4 (17×14 cm) giant basal cell carcinoma of the left forearm treated by excisional surgery with free margins is reported.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Early Surgical Suction and Washout for Treatment of Cytotoxic Drug Extravasations

This case report is presented to assess safety and efficiency of early suction and saline washout of extravasated cytotoxic drugs. Through multiple small skin incisions, the area of extravasation is first suctioned and subsequently extensively washed out with saline. Incisions are left open and the arm is elevated for 24 hours. A complete healing was obtained in five days without any skin or soft tissue loss. No additional treatment was needed. Early referral and surgical treatment by suction and washout is a safe and reliable treatment protocol for major cytotoxic drug extravasation injuries.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Radiation therapy after immediate breast reconstruction with implants

The use of implants in immediate breast reconstruction is presently a common option. However, the practice should be evaluated in consideration of possible adjuvant therapies needed to control disease and to rule out negative interactions. This article discusses the effects of radiotherapy on breast implants with regard to the final cosmetic result. Six out of 124 cases of immediate breast reconstruction with implants were followed and evaluated in terms of capsular contracture and final aesthetic result after adjuvant radiotherapy and compared with the results of 118 patients who did not require irradiation. All of the patients who received irradiation demonstrated poor to fair results, with grade III to IV capsular contracture. Two patients received radiation therapy for local recurrences, which worsened their capsular contracture, emphasizing the deleterious effect of irradiation on breast implants. Statistical analysis of the results demonstrated a significant difference between the two groups in terms of capsular contracture and breast symmetry. In the selection of patient candidates for immediate breast reconstruction with implants, adjuvant radiation therapy must be considered as a contraindication, at least from an aesthetic point of view.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Massive scrotal calcinosis

Scrotal skin calcinosis is a rare benign disease; in most cases there are no associated symptoms. A 40-year-old patient with massive involvement of the scrotum is presented. Histological examination of the excised material revealed circular deposits of calcium within the dermis without evidence of epithelialized lining. The pathogenesis is discussed regarding hypotheses presented in the literature.SCOPUS: ar.jinfo:eu-repo/semantics/publishe