Unusual Location of a Capillary Hemangioma: Inguinal Location

A 3-month-old girl presented to the Department of Pediatric Surgery because of a strangled inguinal hernia. The exploration using an inguinal approach showed a blue-reddish, moderately firm, circumscribed subcutaneous mass. Pathologic examination of the resected tissue confirmed the diagnosis of capillary hemangioma. To the authors’ knowledge, this is the first reported case of a capillary hemangioma occurring in this location. They provide a review of the current literature on capillary hemangiomas, concluding that despite the rarity of these lesions, they should be considered in the differential diagnosis of lesions in the inguinal location.     

Management of penile fractures complicated by urethral rupture

The combination of lesions of the penile urethra and the corpus cavernosum is rare and likely to go unremarked. It worsens the immediate and long-term prognosis and poses a problem of management. Among 312 cases of penile fracture, we performed a retrospective study of a series of 10-case of traumatic corpora cavernosa rupture complicated with urethral rupture, treated in the department of Urology at 'Charles Nicolle' Hospital in Tunis. The median patients' age was 30 years. The most common mechanism was manipulation of an erect penis, found in six cases. Urethral rupture was suspected in all patients given the presence of bloody urethral discharge. No preoperative radiographic investigations were necessary. All patients underwent immediate surgical exploration. The urethral injury was always partial and localized at the level of the corpora tear. Surgical repair of both urethral and corpora tear was done in all patients. The follow up was uneventful. Urethrography at the removal of the transurethral catheter did not visualize contrast extravasation in any patient. No urethral stricture or erectile complaints were noted within a 36-month mean follow-up. Urethral rupture must be suspected in any case of penile fracture presenting with bloody urethral discharge. Standard treatment is immediate surgical repair.     

Uptake of ingested bovine lactoferrin and its accumulation in adult mouse tissues

Lactoferrin is a glycoprotein with antimicrobial and immunoregulatory properties, which is found in milk, other external secretions, and in the secondary granules of neutrophils. The present study examined the time course of uptake and the pattern of tissue accumulation of bovine lactoferrin (bLf) following intragastric intubation of a single dose to adult naïve mice or to mice daily fed bLf for 4 weeks. Following ingestion, bLf was transferred from the intestine into peripheral blood in a form with intact molecular weight (80 kDa) and localized within 10 to 20 min after oral administration in the liver, kidneys, gall bladder, spleen, and brain of both groups of mice. Immunoreactive bLf could also be detected in the luminal contents of the stomach, small intestine and colon 1 h after intragastric intubation. Interestingly, serum and tissue accumulation of bLf was approximately 50% lower in mice chronically fed this protein than in those given only the single oral dose. Furthermore, significant levels of bLf-specific IgA and IgG antibodies as well as bLf-containing IgA- and IgG immune complexes were detected in mice chronically fed bLf but not in those fed only once. Taken together, these results indicate that bLf resists major proteolytic degradation in the intestinal lumen and is readily absorbed in an antigenic form in blood and various mouse tissues. Chronic ingestion of lactoferrin reduces its uptake, probably through mechanisms such as immune exclusion, which minimize potential harmful reactions to food products.     

Visualisation of tibiofemoral contact in total knee replacement using optical device

An in situ optical visualization technique (OVT) has been developed to identify the tibiofemoral contact (TFC) area during prosthesis indentation. An artificial total knee replacement (TKR) with borosilicate glass femoral component has been reproduced similarly to the original one. The medial and lateral contact areas have been observed, located and measured by means of in situ OVT. Therefore, it was experimentally possible to ensure a good axial alignment of the femoral component and tibial polyethylene insert. In addition, experimental measurement for load-displacement curves became reproducible. Furthermore, the evolution of the medial and lateral TFC areas as a function of the normal load was established. Finally, this study has shown that the in situ OVT is a simple in vitro method that provides comparable results with well-known methods such as Fuji film technique.     

Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome

Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive condition defined by the association of myotonia with chondrodysplasia. SJS results from mutations in the HSPG2 gene, which encodes perlecan, a major component of basement membranes. Only eight HSPG2 mutations have been reported in six SJS families. Here, we describe the molecular findings in 23 families (35 patients) with SJS, being one-third of the SJS cases reported in the medical literature. We identified 22 new HSPG2 mutations and unreported polymorphisms. Mutations included nine deletion or insertion (41%), six splice site (27%), five missense (23%), and two nonsense mutations (9%). All but four mutations were private, and we found no evidence for a founder effect. Analyses of HSPG2 messenger RNA (mRNA) and perlecan immunostaining on patients' cells revealed a hypomorphic effect of the studied mutations. They also demonstrated distinct consequences of truncating and missense mutations on perlecan expression as truncating mutations resulted in instability of HSPG2 mRNA through nonsense mRNA-mediated decay, whereas missense mutations involving cysteine residues led to intracellular retention of perlecan, probably due to quality control pathways. Our analyses strengthen the idea that SJS results from hypomorphic mutations of the HSPG2 gene. They also propose tools for its molecular diagnosis and provide new clues for the understanding of its pathophysiology.     

Acrodermatitis enteropathica: a review of 29 Tunisian cases

Introduction Acrodermatitis enteropathica is a rare autosomal recessive disease due to an abnormality in a zinc transporting molecule. Methods We conducted a retrospective monocentric study on 29 Tunisian cases of Acrodermatitis enteropathica (AE) treated in our Department of Dermatology in Tunisia, between January 1981 and June 2008. Results The age of onset of disorders was between 15 d and 12 months (mean 6.86 ± 3.25 months). The delay of consultation ranged between 15 d and 8 months (mean of 2.8 ± 2.17 months) after onset. Onset of gastrointestinal and psychiatric signs depended significantly on consulting times. Plasma zinc levels ranged between 14 and 88 lg/100 ml (mean 44.86 ± 18.4 lg/100 ml). There was not a significant relation between zincemia and clinical features. Genetic analyses in 13 of our patients showed three different mutations in the SLC39A4 gene: c.1223_1227del (p.Trp411ArgfsX7) in exon 7,c.143T>G (p.Leu48X) in exon 1 and c.1784T>C (p.Gly595Val) in exon 11. No significant genotype‐phenotype correlations could be established. Conclusion Acrodermatitis enteropathica is a rare disease which diagnosis is easy. Its biological confirmation is made on a simple dosage of zincemia. However, the diagnosis is not always suggested, and is unfortunately made late. At present, there is a molecular test to detect SLC39A4 mutations.