To date, several germline mutations have been identified in the LRBA gene in patients suffering from a variety of clinical symptoms. These mutations abolish the expression of the LRBA protein, leading to autoimmunity, chronic diarrhea, B-cell deficiency, hypogammaglobulinemia, functional T-cell defects and aberrant autophagy. We review the clinical and laboratory features of patients with LRBA mutations and present five novel mutations in eight patients suffering from a multitude of clinical features.

The main finding of the present study was that multiple paravertebral injections resulted in more reliable radiographic and clinical distribution compared with a single-injection technique.

Cervicogenic headache is a chronic hemicranial pain, usually occurring daily. This randomized, double-blind, placebo-controlled trial evaluated the effectiveness of nerve stimulator-guided occipital nerve blockade in the treatment of cervicogenic headache. The reduction in analgesic consumption was the primary outcome measure. Fifty adult patients diagnosed with cervicogenic headache were randomly divided into two equal groups of 25 patients each. All patients in both groups received greater and lesser occipital blocks, whereas only 16 patients in each group received facial nerve blockade in association with the occipital blocks. The control group received injections of an equivalent volume of preservative-free normal saline. Pain was assessed using the visual analog scale (VAS) and the Total Pain Index (TPI). Forty-seven patients entered into the final analysis as three patients were lost to follow-up. Anesthetic block was effective in reducing the VAS and the TPI by approximately 50% from baseline values (P = 0.0001). Analgesic consumption, duration of headache and its frequency, nausea, vomiting, photophobia, phonophobia, decreased appetite, and limitations in functional activities were significantly less in block group compared to control group (P < 0.05). The nerve stimulator-guided occipital nerve blockade significantly relieved cervicogenic headache and associated symptoms at two weeks following injection.