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.

Purpose: A randomized clinical trial was undertaken to test the hypothesis that patients receiving a nerve stimulator guided pudendal nerve block for hemorrhoidectomy would experience more effective and prolonged postoperative analgesia and shorter hospital stay compared to patients receiving general anesthesia. Methods:This was a prospective randomized observer-blinded study. Following Ethics Committee approval and informed consent, 80 patients scheduled for hemorrhoidectomy were randomized to two groups of 40 patients each: general anesthesia alone, or nerve stimulator guided pudendal nerve block. Postoperative pain, the primary outcome variable of the study, was assessed by visual analogue scale scores at pre-determined intervals during the postoperative period. Analgesic consumption, time to return to normal activities, patients' and surgeons' satisfaction, and duration of hospital stay were recorded. Results:The guided pudendal nerve block group failed in three patients, requiring their conversion to general anesthesia. Otherwise, patients in the pudendal nerve block group experienced better postoperative pain relief at rest (P < 0.0001), on walking, sitting, and defecation (P < 0.001), reduced need for opioids (11/35 vs 32/37; P < 0.0001), a more rapid return to normal activities (7.2 vs 13.8 days; P < 0.0001) and also a shorter hospital stay (25/35 vs 3/37 outpatient cases; P < 0.0001) compared to the general anesthesia group. Pudendal nerve block was also associated with overall higher patient satisfaction compared to general anesthesia (30/35 vs 9/37; P < 0.0001). Conclusion:Nerve stimulator guided pudendal nerve block is associated with reduced postoperative pain, shortened hospital stay, and earlier return to normal activity compared to general anesthesia for hemorrhoidectomy.

The repeated nerve stimulator-guided occipital nerve blockade is a treatment mode that may relieve cervicogenic headache with no recurrence for at least six months in addition to alleviation of associated symptoms.

Postdural puncture headache (PDPH) is one of the most common complications of spinal anesthesia, where adequate hydration with bed rest in the horizontal position is the initial recommendation. Epidural blood patch is to date the most effective treatment, but it is an invasive procedure that may result in serious complications. The aim of the current study was to conduct a prospective, randomized, single-blinded comparison between bilateral occipital blockade and conventional expectant therapy in adults suffering from PDPH. A primary hypothesis was that occipital blockade would result in better pain management and quicker return to normal activity. Fifty adult patients diagnosed with PDPH were randomly divided into two equal groups of 25 each. All patients in the block group received greater and lesser occipital nerve blocks, whereas the control group received adequate hydration, complete bed rest, and analgesics. Forty-seven patients entered into the final analysis as three patients withdrew from study. Complete pain relief was achieved in 68.4% of block patients after 1 to 2 blocks, with 31.6% ultimately receiving up to 4 blocks. Visual analog scales were significantly lower in the block group (P < 0.01), and the block group consumed significantly less analgesics in the follow-up period (P < 0.05) compared with control group. Block patients had significantly shorter hospital stays and sick leave periods (P < 0.001). The studied method is superior to expectant conservative therapy in the treatment of patients suffering from PDPH.

Patients who received PNB had reduced analgesic consumption and pain within the first 24 hours postoperatively compared with CB.

SummaryWe compared the analgesic and anaesthetic efficacy of pudendal nerve block with that of dorsal penile nerve block in male patients aged 3-5 years of age, undergoing elective circumcision. Thirty patients had a nerve stimulator-guided pudendal nerve block with two separate injection points 1.5-2 cm from the centre of the anus, and thirty patients received a dorsal penile nerve block. The same total anaesthetic volume of 0.3 ml.kg )1 was used in both groups. The pudendal nerve group showed significantly lower postoperative pain scores than the dorsal group (SD) (p < 0.05), and significantly fewer patients consumed analgesics in the pudendal group than the dorsal group: 0 vs 5 (17%) at 0 and 6 h, respectively. This study demonstrates the effectiveness of pudendal nerve block in comparison to the dorsal nerve block, with improved postoperative outcomes in children undergoing circumcision.