Kennedy disease is a rare X-linked recessive genetic disease with a low incidence rate. The main manifestations of motor neuron involvement include limb weakness, muscle atrophy, dysarthria, difficulty swallowing, and coughing after drinking water. The patient may die from pulmonary infection and respiratory failure, and there is currently no effective treatment available. There are few reports on anesthesia for such patients and no guidelines or expert consensus. This article reports on perioperative anesthesia management for a 69 years old patient who underwent lumbar spine surgery before with coronary heart disease. The patient was diagnosed with Kennedy disease through electromyography and genetic testing before surgery and underwent knee replacement surgery. After sufficient preoperative consultation and evaluation, femoral nerve block was performed with 0.25% ropivacaine under guidance with ultrasound and nerve stimulator, followed by induction of general anesthesia with sufentanil, propofol, and etomidate. A laryngeal mask was inserted without the use of muscle relaxants and breathing was controlled by machine. During the operation, propofol and remifentanil were used for total intravenous anesthesia. The patient had stable vital signs, well tolerated, and the surgical process was smooth. The time of recovery from anesthesia was short, and no anesthesia related complications, such as nausea, vomiting, aspiration, or suffocation was observed after the operation. Postoperative muscle strength recovery was good. After closely monitoring in the ICU for a day, the patient returned to the regular ward. A postoperative analgesia combination of nerve block and oral nonsteroidal analgesics was performed, and emergency pain rescue with pethidine was administered if necessary. The analgesic effect was satisfactory. The patient was safely discharged in the end and recovered well. 肯尼迪病是一种罕见的X染色体连锁隐性遗传疾病, 发病率低, 以下运动神经元受累为主要表现, 具体可表现为四肢无力、肌肉萎缩、构音障碍、吞咽困难、饮水呛咳等。患者可能死于肺部感染和呼吸衰竭, 目前尚无有效治疗手段。此病患者临床麻醉学报道较少见, 并无明确的指南或专家共识。本文报道1例69岁合并冠心病的腰椎术后患者, 术前经肌电图检查和基因检测确诊为肯尼迪病, 行膝关节置换术的围术期麻醉处理过程。经过充分的术前会诊和评估, 在超声和神经刺激器引导下以0.25%(质量分数)罗哌卡因行股神经阻滞后, 以舒芬太尼、丙泊酚和依托咪酯进行全身诱导, 在不使用肌松剂的情况下置入喉罩, 控制呼吸。术中采用丙泊酚和瑞芬太尼全凭静脉麻醉, 患者生命体征平稳, 耐受良好, 手术过程顺利。术后患者苏醒迅速, 未出现恶心、呕吐、误吸、窒息等麻醉相关并发症, 术后肌力恢复良好, 于重症监护病房密切监测1 d后, 返回普通病房。术后采用神经阻滞联合口服非甾体类镇痛药, 必要时予哌替丁紧急补救的镇痛方案, 镇痛效果满意, 最终患者安全出院, 愈后良好。

Staphylococcus aureus biofilms play a crucial role in chronic rhinosinusitis (CRS), leading to the persistence of symptoms. Severe CRS patients are frequently infected with S. aureus strains that exhibit higher biofilm properties (e.g., biomass, exoprotein production) compared to S. aureus from controls. S. aureus biofilms resist antibiotic treatment; however, the relationship between bacterial biofilm properties, antibiotic susceptibility, and CRS severity has not yet been defined and is the subject of this study. S. aureus clinical isolates and reference strains, and matched clinical datasets were collected from CRS patients and controls (n  =  35). Antimicrobial susceptibility of the isolates to clindamycin, mupirocin, clarithromycin, doxycycline, and amoxicillin-clavulanic acid was determined by minimum inhibitory concentration (MIC) and minimum biofilm eradication concentration (MBEC). S. aureus MBEC values (n  =  35) were significantly higher (up to 11 times) than the MIC for all five antibiotics (p < 0.001). Among the various antibiotics tested, mupirocin had the strongest antibiofilm activity and amoxicillin-clavulanic acid the weakest: at antibiotic concentrations that are deemed to indicate susceptibility or intermediate resistance when testing in planktonic form, 80% biofilm eradication was reached for all isolates using mupirocin and only 5/35 isolates using amoxicillin-clavulanic acid. The biofilm metabolic activity, biomass, colony-forming units, and exoprotein production were positively correlated with the MBEC values for amoxicillin-clavulanic acid and clarithromycin, but not for the other antibiotics. Lund-Mackay and Lund-Kennedy disease severity scores showed positive correlations with the MBEC values of clarithromycin. These findings show that whilst severe CRS patients are frequently infected with S. aureus strains that exhibit higher biofilm-mediated virulence, these biofilms are also more difficult to control with standard of care antibiotics. Better personalized therapies are required to manage biofilm-mediated infections in severe CRS patients.

Amyotrophic lateral sclerosis (ALS), Lewy Body dementia (LBD), Kennedy disease (KD), and Congenital Myasthenic Syndrome (CMS) are progressive motor disorders for which no disease modifying treatment exists. ALS and LBD are uniformly, and often rapidly, fatal. No treatment of any kind has ever resulted in actual improvement for ALS patients; the best that has been achieved is minor slowing of their progression. Forty-one preclinical studies of intra-nasal instillation of mesenchymal stem cell exosomes have, however, demonstrated complete safety and efficacy for models of a variety of neurocognitive and motor disorders. We hypothesized that intranasal exosomes treatment in humans would be completely safe and also effective for the treatment of motor disorders such as ALS, LBD, KD and CMS. 18 patients with ALS, Kennedy Disease, Congenital Myasthenic Syndrome, or Lewy Body Dementia had 32 AlloEx Exosome® treatments to assess safety, attenuation of disease, and increase in strength and motor function. The study was conducted under the clinical trial NCT07105371 found at clinicaltrials.gov/study/NCT07105371. There were no adverse events of any kind reported among these treatments. All patients, except for one, achieved some degree of clinical and strength improvement; the longest improvement was recorded at the 6-month follow-up. Intranasally-instilled AlloEx Exosomes® are completely safe, attenuate progression, and improve strength in ALS, Kennedy Disease, CMS, and LBD.

Spinal and bulbar muscular atrophy (SBMA) is an X-linked neuromuscular disorder primarily affecting adult males due to the expansion of CAG repeats in the androgen receptor gene. It manifests as progressive lower motor neuropathy and androgen deficiency. A Japanese man in his late 50s presented with gradually progressive muscle weakness over 6 years. Examination revealed muscle weakness and atrophy in upper and lower limbs, decreased deep tendon reflexes, involuntary facial movements, bilateral finger tremors, tongue atrophy, fasciculations and bilateral gynaecomastia. Blood tests indicated elevated creatine kinase and mild hepatic dysfunction. Nerve conduction studies showed decreased sensory nerve action potentials, and electromyography demonstrated neurogenic changes. Genetic testing confirmed SBMA with 47 CAG repeats despite no family history. Treatment included leuprorelin acetate and rehabilitation using a wearable cyborg hybrid-assistive limb. As SBMA progresses slowly and symptoms like hand tremors and decreased serum creatinine precede significant weakness, early recognition is critical for diagnosis.

Expanding on earlier findings of auditory involvement from two small-scale studies, we conducted a comprehensive evaluation of hearing levels in a larger cohort of SBMA patients. Thirty-six SBMA patients and 36 age-matched male controls without risk factors for hearing loss underwent a comprehensive audiological assessment, including pure-tone audiometry at 250, 500, 1000, 2000, 4000, and 8000 Hz frequencies, using both air and bone conduction. The pure-tone average (PTA) was calculated as the mean threshold at 500, 1000, 2000, and 4000 Hz. A correlation analysis was performed to evaluate the relationship between patients' audiological features and clinical characteristics, including motor disability, as measured by the SBMA functional rating scale (SBMAFRS) and the 6-min walk test (6MWT). PTA values were significantly higher in SBMA patients compared to healthy controls (Mann-Whitney U test, p = 0.0005, and p = 0.0001 for the right and left side, respectively), even when analysis was restricted to the 19 SBMA patients without risk factors for hearing loss (Mann-Whitney U test, p = 0.0148 and p = 0.0243 for the right and left ear, respectively). In the latter group, the hearing thresholds of each individual frequency were significantly higher than in controls, except for the intermediate frequencies (2000 Hz on both sides and 1000 on the left one). Negative significant correlations were found between PTA values and both the CAG repeat number and 6MWT distances. Conversely, SBMAFRS scores were overall unrelated to PTA values. Our findings suggest a disease-specific hearing impairment in SBMA patients.