Natural history and early diagnosis of LAD-1/variant syndrome

The syndrome of leukocyte adhesion deficiency (LAD) combined with a severe Glanzmann-type bleeding disorder has been recognized as a separate disease entity. The variability in clinical and cell biological terms has remained largely unclear. We present data on 9 cases from 7 unrelated families, with 3 patients being actively followed for more than 12 years. The disease entity, designated LAD-1/variant syndrome, presents early in life and consists of nonpussing infections from bacterial and fungal origin, as well as a severe bleeding tendency. This is compatible with 2 major blood cell types contributing to the clinical symptoms (ie, granulocytes and platelets). In granulocytes of the patients, we found adhesion and chemotaxis defects, as well as a defect in NADPH oxidase activity triggered by unopsonized zymosan. This last test can be used as a screening test for the syndrome. Many proteins and genes involved in adhesion and signaling, including small GTPases such as Rap1 and Rap2 as well as the major Rap activity-regulating molecules, were normally present. Moreover, Rap1 activation was intact in patients' blood cells. Defining the primary defect awaits genetic linkage analysis, which may be greatly helped by a more precise understanding and awareness of the disease combined with the early identification of affected patients.     

Mycophenolate mofetil treatment of crescentic Henoch-Schönlein nephritis with IgA depositions

Mycophenolate mofetil (MMF) is considered to be a promising therapeutic agent in primary glomerulonephritis but there are no data on the use of MMF in Henoch-Sch?nlein nephritis (HSN). Herein we report the first adult crescentic HSN patient in whom long-term complete remission was achieved after MMF therapy.     

The clinical, electrophysiologic, and surgical characteristics of peripheral nerve injuries caused by gunshot wounds in adults: a 40-year experience

BACKGROUND: There are few large-volume studies on the repair of peripheral nerve lesions caused by gunshot wounds. In this study, the results of peripheral nerve repair are analyzed, and the factors influencing the outcome are investigated. METHODS: During a 40-year period, 2210 peripheral nerve lesions in 2106 patients who sustained gunshot injury were treated surgically in the Department of Neurosurgery. One thousand thirty-four patients had shrapnel injury, and 1072 patients had missile injury. Twelve peripheral nerves were included in this study, and all of them were repaired by direct suture, using nerve graft, or neurolysis. All patients underwent neurologic and electrophysiologic evaluations in the preoperative period and postoperatively at the end of the follow-up period. The mean time of follow-up was 2.6 years. Final outcome was based on the motor, sensory, and electrophysiologic recoveries, and a patient judgment scale. RESULTS: Using the muscle grading scale, sensory grading scale, EMNG, and patient judgments, the maximal recovery was achieved in the subscapular nerve, but there were only 4 subscapular nerve lesions, which is not sufficient for a statistically significant outcome. Furthermore, the tibial, median, and femoral nerve lesions showed the best recovery rate, whereas the peroneal nerve, ulnar nerve, and brachial plexus lesions had the worst. CONCLUSION: Type of the peripheral nerve, injury (repair) level, associated injuries, electrophysiologic findings, operation time, intraoperative findings, surgical techniques, and postoperative physical rehabilitation are the prognostic factors for peripheral nerve lesions due to gunshot wounds.     

Levamisole: Might It Be used in Treatment and Prevention of Atopic Diseases?

As an antihelmintic and Th₁-biased immunostimulant, levamisole has been used to restore impaired cell mediated immunity. We sought to explore whether the Th₁ driving effect of levamisole may also have an influence on the course of allergic diseases, by shifting the Th₂ dominant immunity more toward Th₁-mediated response. BALB/c mice were sensitized intraperitoneally on days 0, 7, and 15 with ovalbumin (OVA). After the sensitization, they were challenged intranasally with OVA once a day for 6 consecutive days. Levamisole (2.5 mg/kg) was administered orally three times a week during sensitization and challenge. After the last challenge, differential cell counts were performed, and IL-4 and IFNγ levels were measured in the bronchoalveolar lavage fluids (BALF). Serum total IgE level was determined, and lungs were examined histologically. The present study establishes that mice administered with oral levamisole gave significantly lower IL-4 levels on sensitization with OVA; however, IFNγ production, eosinophil infiltration, and serum IgE levels remained unaffected. In conclusion, use of levamisole may have important implications in the management of the allergic inflammation.     

Analysis of different surgical approaches for the treatment of cerebrospinal fluid rhinorrhea.

The current treatment method for cerebrospinal fluid (CSF) rhinorrhea is surgical repair of the fistula. The aim of this study was to analyse different surgical approaches used for the treatment of CSF rhinorrhea regarding several preoperative and postoperative variables to determine the optimal method in these patients. Patients' charts were retrospectively reviewed to get the required data. Twenty-six patients who underwent different types of surgical approach for the treatment of CSF rhinorrhea were included in the study. Patients who had extensive comminuted fractures of the anterior cranial base and additional brain injury besides CSF rhinorrhea, mostly as a result of gunshot injuries, underwent craniotomy (n = 14). Osteoplastic frontal sinusotomy was used in two patients with a dural defect located at the posterior wall of the frontal sinus. Uncomplicated CSF fistulas in ten patients, located at the anterior and posterior ethmoid roof and in the sphenoid sinus, were closed with an endonasal endoscopic approach. Postoperative success rate was higher (97 % for intracranial approach, 100 % for extracranial external and endonasal endoscopic approach) for all techniques. Anosmia was the most frequent permanent complication (n = 5), seen after craniotomy. In conclusion, endonasal endoscopic approach can be preferred for the closure of uncomplicated CSF fistula, located at the anterior or posterior ethmoid roof and in the sphenoid sinus, due to its minimal postoperative morbidity. Uncomplicated CSF fistula, located at the posterior wall of frontal sinuses can be repaired extradurally with osteoplastic frontal sinusotomy. Intracranial approaches should be reserved for more complicated CSF rhinorrhea which results from extensive comminuted fractures of the anterior cranial base and is accompanied with intracranial complications.     

Testicular adrenal rests in a patient with congenital adrenal hyperplasia: US and MRI features

We present ultrasonographic and magnetic resonance imaging findings of intratesticular adrenal rests in a 16-year-old patient with congenital adrenal hyperplasia. Scrotal ultrasonography showed bilateral well-delineated homogenous hypoechoic lesions located around the mediastinum testis, which were highly vascularized on power Doppler ultrasonography. Relative to normal testicular parenchyma the lesions were iso- or hyperintense on T1-weighted and hypointense on T2-weighted images. T2-weighted images also showed a target-like appearance caused by a more hypointense peripheral halo around the lesions. The lesions enhanced remarkably on post-contrast images. This case suggests that radiological evaluation of testes, even in the presence of normal physical examination findings, should be included in periodical follow-up of patients with congenital adrenal hyperplasia. Magnetic resonance (MR) imaging is useful in demonstrating the lesions, because the contrast resolution better than with ultrasonography.     

Does Specific Immunotherapy Injection Cause an Increase in Bronchial Reactivity?

Background. Several well-controlled studies have proven the clinical benefit of specific immunotherapy (SIT) for seasonal allergic rhinitis (AR). However, whether subcutaneous SIT injection could cause a transient increase in bronchial reactivity (BR) remains unknown. Objective. To investigate whether subcutaneous SIT injection, either during or outside the pollen season, could cause an increase in BR in children with pollen allergy. Methods. Twenty-two children (mean age 13.6 ± 0.7 years) with AR who were receiving maintenance SIT for 15 months were included in the study. Pre-injection BR of the patients was evaluated with methacholine provocation test immediately before maintenance dose of SIT during the peak pollen season and outside the season. The post-injection test was administered 24 hours after SIT injection. Results. There was no difference in FEV₁ measures recorded during [98(93-109)%] and outside [102(96-111)%] the pollen season. There was no significant difference between pre- [64(7-64)mg/mL] and post-allergen injection [32(7.5-64) mg/mL] BR outside the pollen season (p = 0.9). A trend towards improvement following allergen injection [64(5.4-64)] as compared to pre-allergen injection [14.6(3.5-64)] was shown during the pollen season (p = 0.053). Although PC20 measures in the pollen season were lower than outside the season, the difference was not significant. The percentage of the patients with bronchial hyperreactivity was 62% during and 43% outside the season. Conclusion. SIT injections both during and outside the pollen season cause no increase in BR in children with AR. This calls into question the necessity of empirical dose reduction during the pollen season.