Behçet's Disease, Pathogenesis, Clinical Features, and Treatment Approaches: A Comprehensive Review.

Behçet's disease is a systemic inflammatory disorder of unknown etiology. The disease manifests with diverse clinical symptoms, most commonly recurrent oral and genital ulcers, skin lesions, and uveitis, though it can affect multiple organ systems. Diagnosis is primarily clinical due to the lack of a definitive diagnostic test, and management involves a multidisciplinary approach to control inflammation and manage symptoms. Current treatment strategies involve corticosteroids, immunosuppressive agents, and, increasingly, biological therapies. Behçet's disease exhibits a higher prevalence along the Silk Road, suggesting a role of environmental and genetic factors. Despite significant progress in understanding its clinical characteristics and treatment approaches, gaps remain in our understanding of its pathogenesis. Future research is needed to elucidate the disease's pathophysiology and optimize treatment strategies.

High Definition Three-Dimensional Exoscope (VITOM 3D) in E.N.T. Surgery: A Systematic Review of Current Experience.

Over the last decade, technological growth has developed new devices for more precise surgery based on improved maneuverability, minimally invasive approaches, and magnification of the operating field. In this context, the exoscope has opened a new phase for more accurate and safer microsurgery, improving the perception of the volume of objects and the depth of structures for planning, targeting, and controlling fine movements. The exoscope could be used for middle ear, transcanal, transmastoid, and craniotomy procedures that require two-handed dissection, both to perform both totally VITOM-based techniques and coupled to traditional procedures with an operating microscope or endoscope. In addition, the VITOM 3D system allows the surgeon to work with high-definition images, which is essential in facial nerve surgery or submandibular salivary stone or tear surgery approaches, where magnification plays a fundamental role in surgical success and in reducing operating times. The 3D exoscope approach could also be included in traditional transoral procedures for oropharyngeal carcinoma. The exoscope may provide a relevant approach in teaching surgeons and nurses, allowing adequate training in non-oncological surgical procedures such as a tonsillectomy or lateral pharyngoplasty.

Obsessive-Compulsive Disorder in PANS/PANDAS in Children: In Search of a Qualified Treatment-A Systematic Review and Metanalysis.

BACKGROUND: Several treatment options have been proposed for pediatric acute-onset neuropsychiatric syndrome/pediatric autoimmune neuropsychiatric disorder associated with streptococcal infection (PANS/PANDAS). Still, no clear therapeutic protocol has been recognized to prevent these neuropsychiatric diseases. The study aims to report on the literature evidence and different treatment strategies related to these disorders. METHODS: We analyzed the last 20 years' English language literature and performed a comprehensive review of the PANS/PANDAS treatment, including studies reporting OCD outcomes post-treatment follow-up. RESULTS: We covered 11 articles in our systematic literature review for a total of 473 patients, of which four studies included 129 surgical subjects and seven papers with 326 medically treated patients. Pooled outcomes analysis, surgical and medical treatment reported an OCD reduction, but no statistical significance was obtained (p < 0.05 for both). CONCLUSIONS: Surgical therapy in selected patients can lead to promising results, although further evidence is needed. On the other hand, the role of medical therapy remains controversial, often due to the lack of univocal curative protocols and variable responses depending on the drug used and the timing of administration. Therefore, further investigations are necessary to clarify the most appropriate therapeutic procedure.

Endoscopic Endonasal Repair of Congenital Choanal Atresia: Predictive Factors of Surgical Stability and Healing Outcomes.

Background: To assess the long-term outcomes and independent predictors of surgical success of a one-stage minimally invasive surgical procedure for congenital choanal atresia (C.C.A.). Methods: a retrospective multicentric study was conducted between 2010 and 2022. An endonasal endoscopic approach was performed in 38 unilateral or bilateral C.C.A. children. All the patients were clinically and radiologically assessed and followed for at least 2 years. Seven outcome measures were applied. Consequently, surgical success was correlated with all the independent variables reported. Results: 18/38 (47.36%) patients presented normal postoperative healing, 8/38 (21.05) had moderate restenosis (<50%), while 12/38 (31.57%) cases were severe (>50%), requiring a surgical revision. No statistical significance was found for average hospital stay between stenosis >50% and <50% patients (p = 0.802) and postoperative pain (p = 0.075); instead, the severe restenosis group demonstrated a higher delay of breast suction (p < 0.001). Among the independent variables predictors of surgical success, the presence of Charge syndrome and rhinopharyngeal stenosis demonstrated higher risks for surgical revision (OR: 4.00, 95% CI: 0.57−28.01, and OR: 2.75, 95% CI: 0.55−13.69, respectively). On the contrary, the hypoplastic inferior turbinate and bilateral C.C.A. showed a lower risk for severe restenosis by a higher endoscopic surgical space and creating a single larger opening (OR: 0.88, 95% CI: 0.22−3.52, and OR: 0.45, 95% CI: 0.10−2.08). Conclusion: Several independent variables could influence the surgical success after C.C.A. endoscopic repair; however, more high-quality evidence is needed to generate an effective predictive model.

Quality of Life After Total LaryngectomyVoice-Related Quality of Life After Total Laryngectomy: Systematic Review and Meta-Analysis.

BACKGROUND: To compare voice rehabilitation-related quality of life among patients surgically treated for total laryngectomy and rehabilitated with esophageal (EV) and tracheoesophageal (TEV) voice. METHODS: A systematic literature review of articles from the past 20 years was conducted, and only full-text English articles comparing VTE and EV results in laryngectomized patients were included. RESULTS: We provided 15 articles for a total of 1085 laryngectomized patients undergoing voice rehabilitation, of which 869 (80.1%) were treated with voice prosthesis while 216 (19.9%) to esophageal speech. Pooled VHI outcomes showed a significantly better score for the TEV group than EV one (31.93±12.11 versus 35.39±20.6; P = 0.003), but no significant difference was recorded at VrQoL (8.27±5.98 versus 9.27±2.02; P = 0.19). CONCLUSION: TEV and EV are both effective procedures in voice rehabilitation after laryngectomy. Although TEV allows for significantly better speech performance, it does not necessarily correlate with a high VrQoL.

Bone marrow ectopic expression of a non-coding RNA in childhood T-cell acute lymphoblastic leukemia with a novel t(2;11)(q11.2;p15.1) translocation.

Chromosomal translocations play a crucial role in tumorigenesis, often resulting in the formation of chimeric genes or in gene deregulation through position effects. T-cell acute lymphoblastic leukemia (T-ALL) is associated with a large number of such rearrangements. We report the ectopic expression of the 3' portion of EST DA926692 in the bone marrow of a childhood T-ALL case showing a t(2;11)(q11.2;p15.1) translocation as the sole chromosome abnormality. The breakpoints, defined at the sequence level, mapped within HPS5 (Hermansky Pudlak syndrome 5) intron 1 at 11p15.1, and DA926692 exon 2 at 2q11.2. The translocation was accompanied by a submicroscopic inversion that brought the two genes into the same transcriptional orientation. No chimeric trancript was detected. Interestingly, Real-Time Quantitative (RQ)-PCR detected, in the patient's bone marrow, expression of a 173 bp product corresponding to the 3' portion of DA926692. Samples from four T-ALL cases with a normal karyotype and normal bone marrow used as controls were negative. It might be speculated that the juxtaposition of this genomic segment to the CpG island located upstream HPS5 activated DA92669 expression. RQ-PCR analysis showed expression positivity in 6 of 23 human tissues examined. Bioinformatic analysis excluded that this small non-coding RNA is a precursor of micro-RNA, although it is conceivable that it has a different, yet unknown, functional role. To the best of our knowledge, this is the first report, in cancer, of the activation of a small non-coding RNA as a result of a chromosomal translocation.

Intramedullary compressive nail fixation for the treatment of severe Charcot deformity of the ankle and rear foot.

Involvement of the ankle joint in Charcot osteoarthropathy may be associated with severe instability and fracture or collapse of the talus. Recalcitrant ulceration may result over the lateral malleolus, increasing the risk of major amputation. This study evaluated ankle arthrodesis with a compressive intramedullary nail in 14 patients with diabetes affected by Charcot of the ankle. The mean patient age was 58 +/- 12 years, and the mean duration of diabetes was 17 +/- 5 years. Transcutaneous oxygen pressures were > or = 50 mm Hg in all patients, indicating a good distal blood supply. A below-knee amputation had previously been suggested because of severe ankle joint instability. None of the patients were able to walk without a brace. Four patients had an ulceration that had healed before the index procedure. All procedures were performed in the quiescent phase of the disease. After a mean follow-up of 18 +/- 4 months, 10 patients (71.4%) achieved a solid arthrodesis, returning to walking with protective shoes. Three patients (21.4%) developed breakage of the calcaneus screws, necessitating removal of the screws in 2 cases and removal of the entire nail in 2 cases. These 3 patients went on to fibrous union that allowed walking with a brace. One patient (7.2%) required a below-knee amputation because of postoperative osteomyelitis of the distal tibia. The data from our study demonstrate a high rate of limb salvage (92.8%), suggesting that this device is safe and effective in the treatment of Charcot arthropathy of the ankle.