A novel nonsense mutation in exon 1 of HSD17B3 gene in an Egyptian 46,XY adult female presenting with primary amenorrhea.

17-ß-Hydroxysteroid dehydrogenase type 3 deficiency is a rare autosomal recessive cause of 46,XY disorder of sex development. Worldwide, about 30 mutations in the hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3) gene have been reported, involving all exons except exon 1. Herein, we investigated an Egyptian female with 46,XY karyotype and low testosterone/Δ4-androstenedione ratio. Genomic DNA was extracted from blood samples, and then, direct DNA sequencing of HSD17B3 gene was performed. The patient had a homozygous mutation c.198G>A in exon 1 resulting in a stop codon (p.W50X). The study presents the first mutation to be reported in exon 1 of the HSD17B3 gene.

The clinical and cost effectiveness of bee honey dressing in the treatment of diabetic foot ulcers.

Honey is known, since antiquity, as an effective wound dressing. Emergence of resistant strains and the financial burden of modern dressings, have revived honey as cost-effective dressing particularly in developing countries. Its suitability for all stages of wound healing suggests its clinical effectiveness in diabetic foot wound infections. Thirty infected diabetic foot wounds were randomly selected from patients presenting to Surgery Department, Suez Canal University Hospital, Ismailia, Egypt. Honey dressing was applied to wounds for 3 months till healing, grafting or failure of treatment. Changes in grade and stage of wounds, using University of Texas Diabetic Wound Classification, as well as surface area were recorded weekly. Bacterial load was determined before and after honey dressing. Complete healing was significantly achieved in 43.3% of ulcers. Decrease in size and healthy granulation was significantly observed in another 43.3% of patients. Bacterial load of all ulcers was significantly reduced after the first week of honey dressing. Failure of treatment was observed in 6.7% of ulcers. This study proves that commercial clover honey is a clinical and cost-effective dressing for diabetic wound in developing countries. It is omnipresence and concordance with cultural beliefs makes it a typical environmentally based method for treating these conditions.

Assessment of the relation between prealbumin serum level and healing of skin-grafted burn wounds.

Nutritional status is an important factor in graft healing. Prealbumin (transthyretin) is a better nutritional marker than the widely used albumin serum level. Prealbumin serum levels were estimated in an endeavour to correlate them to graft healing and to serve as a predictor of graft healing in burn wounds. Fifty burned patients undergoing graft in the Suez Canal University Hospital Burn Unit were subjected to this cross-sectional study. Prealbumin levels were assessed on preoperative day and on the fourth postoperative day. Graft healing was considered complete when the take was 90% or more of the grafted area. The most significantly correlated factor to graft healing was serum prealbumin. Serum albumin levels were not in significant correlation with graft healing or prealbumin levels. In addition, serum prealbumin levels were significantly higher in the younger age group and significantly lower in patients with chronic diseases. Serum prealbumin level is a sensitive tool in predicting graft take in burned patients when all local conditions are favourable and optimised. Nevertheless, it seems less sensitive in the prediction of graft healing in small raw areas less than 5% of total body surface area (TBSA).

Assessment of amniotic and polyurethane membrane dressings in the treatment of burns.

As allograft and xenografts are not available in Islamic countries, amniotic membrane seems to be an effective alternative in the management of deep burns. Its proven bioactivities and modest price suggest that it might be superior to synthetic dressings. Forty-six patients were enrolled in this randomized, controlled clinical trial conducted in the Burn Unit at Suez Canal University Hospital, Ismailia, Egypt. All age groups and both gender were included in the study. Only patients with less than 50% total body surface area burned were included, thus minimizing the dropouts in both groups. All were either second or third degree. These patients were randomly assigned either to group I: amniotic membrane (Biomembrane) dressing, or group II: polyurethane membrane (Tegaderm) dressing. Those in group I demonstrated a significantly lower rate of infection and required less frequent dressing changes than those in group II. They also sustained less electrolyte and albumin loss. The rate of healing in the amniotic membrane group was significantly faster than in the polyurethane group. Furthermore, pain was significantly less when Biomembrane was used. Based on these findings, we recommend the use of lyophilized gamma-irradiated amniotic membrane as an effective alternative for allograft and xenografts in Islamic countries and the Jewish population.

Topical lidocaine-prilocaine cream (EMLA) versus local infiltration anesthesia for radial artery cannulation.

UNLABELLED: In a randomized trial, we compared topical anesthesia by a lidocaine-prilocaine cream (EMLA; Laboratorie ASTRA, Manterre, France) with subcutaneous local lidocaine infiltration for radial artery cannulation. Patients included 538 adults scheduled for coronary angiography using a radial approach. EMLA was applied 2 h before radial cannulation, and lidocaine infiltration was performed 5 min before cannulation. The primary end point was pain as assessed by a verbal numerical scale (0 = no pain, 10 = extreme pain). Pain was less severe in the EMLA group than in the lidocaine infiltration group (Score of 2 vs 7; P = 0.0001). Additional lidocaine infiltration was required significantly less frequently in the EMLA group (relative risk 0.19). The failure rate of cannulation was significantly lower in the EMLA group (relative risk 0.38), and insertion time was shorter (4 versus 6 min). We conclude that EMLA, compared with lidocaine infiltration, reduces pain associated with radial artery cannulation and improves the success rate of the procedure. Routine application of EMLA should be performed in awake patients 2 h before radial artery cannulation. IMPLICATIONS: In a randomized trial, we compared topical anesthesia by a lidocaine-prilocaine cream (EMLA) with subcutaneous local lidocaine infiltration for radial artery cannulation in 538 adults patients. EMLA reduced pain associated with radial artery cannulation and improved the success rate of the procedure.

One-week and six-month angiographic controls of stent implantation after occlusive and nonocclusive dissection during primary balloon angioplasty for acute myocardial infarction.

We prospectively assessed in 124 consecutive patients by means of 1-week and 6-month follow-up angiograms the rate of reocclusion and restenosis of coronary stenting with Palmaz-Schatz stents after occlusive and nonocclusive dissection during primary balloon angioplasty for acute myocardial infarction (AMI). Patients were further evaluated clinically at 1 year. Stenting was performed on large (>3.2 mm) coronary arteries for suboptimal results (47%), occlusive (8%), or nonocclusive dissections (45%) after balloon angioplasty. Stents were delivered using the bare stent technique and high pressure inflations (>12 atm). All patients received ticlopidine 250 mg (500 mg if weight was >80 kg) and aspirin 100 mg for 1 month. No patient received warfarin. At 1 week, 6 patients died of cardiogenic shock and 2 of right ventricular infarction. One subacute occlusion occurred at day 14. At 6 months, in 95 patients, the angiographic restenosis rate (>50% diameter stenosis) was 19%. One-year clinical follow-up, available in 55 patients, indicated cardiac death in 5, and repeat revascularization in 3. Thus, coronary stenting on large (>3.2 mm) coronary arteries after occlusive and nonocclusive dissection during primary balloon angioplasty for AMI using bare Palmaz-Schatz stents, high pressures, ticlopidine, and aspirin is safe. Our reocclusion and restenosis rates are similar to those of trials on elective stenting in stable patients.