Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships

BackgroundGastrointestinal stromal tumors have been detected in 25% of the necropsies performed on NF1 patients, but have been reported only in 7% of NF1 patients in the largest series. Such data imply an important gap between the true presence of tumors and those diagnosed. Few genotype-phenotype relationships have been described but to date none referring to abdominal tumors.ObjectivesEvaluate retrospectively the efficacy of a regular and proactive follow-up of NF1 patients to early diagnose abdominal tumors and report their mutations.MethodsCohort study performed between 2010 and 2020, with 43 NF1 adult patients followed at our Dermatology department.ResultsEight abdominal tumors were diagnosed in six patients, meaning that 14% of the followed patients developed an abdominal tumor. Five patients (83%) were asymptomatic. Five (83.3%) had a family history of NF1 with abdominal tumors (patients 1,2 and 3,4,5 were relatives).ConclusionsAlthough currently gastrointestinal routine screening investigations for asymptomatic patients are not recommended in the guidelines, the family aggregation in our series suggests it should be considered a close follow-up of the relatives of a patient with an NF1-related abdominal tumor. Also, for the first time, two mutations [c.2041C > T (p.Arg681Ter) and c.4537C > T (p.Arg1513*)] have been associated with family aggregation of abdominal tumors in NF1 patients.     

Preoperative comprehensive malignancy risk estimation for thyroid nodules: Development and verification of a network-based prediction model

BackgroundIn order to avoid excessive treatment of thyroid nodules in the clinic, it is necessary to find a simple and practical analysis method to comprehensively and accurately reflect benign or malignant thyroid nodules. This study aimed to construct and validate a comprehensive and reliable network-based predictive model using a variety of imaging and laboratory criteria for thyroid nodules to stratify the risk of malignancy prior to surgery.MethodsWe retrospectively analyzed data from patients who underwent surgical treatment for thyroid nodules at the Thyroid and Breast Diagnosis and Treatment Center of Weifang Hospital of Traditional Chinese Medicine between January 2018 and December 2020. Binary logical regression analysis was performed to predict whether nodules were malignant or benign. The developmental dataset included 457 patients (January 2018–December 2020). The validation set included separate data points (n = 225, January 2018–December 2020).ResultsIn this study, criteria that showed significant predictive value for malignant nodules included TI-RADS: 4b (p = 0.065); Bethesda IV, Bethesda V, Bethesda VI (P < 0.0001); BRAF^V600E mutation (P < 0.0001); Calcitonin>5 pg/ml (p = 0.0037); and FNA-Tg>30 ng/ml (p = 0.0003). A 10-grade risk scoring system was developed. The risk of malignancy risk ranged from 2.06% to 100% and was positively associated with increasing risk grade. The areas under the receiver-operating characteristic curve of the development and validation sets were 0.972 and 0.946, respectively.ConclusionA simple, comprehensive and reliable web-based predictive model was designed using a variety of imaging and laboratory criteria to stratify thyroid nodules by probability of malignancy.     

Filiform needle acupuncture for allergic rhinitis: A systematic review and meta-analysis

BackgroundFiliform needle acupuncture (FNA), the most classical and widely applied acupuncture method based on traditional Chinese medicine theory, has shown a promising effect in the treatment of allergic rhinitis (AR).ObjectiveTo evaluate the efficacy, safety, cost-effectiveness, and patient preference of FNA in the treatment of AR by comparing FNA with sham acupuncture, no treatment, and conventional medication.Search strategyEight electronic databases were systematically searched from inception to October 14, 2021. Additional studies were acquired from clinical trial registration platforms and reference lists.Inclusion criteriaRandomized controlled trials were included if they compared FNA with either sham acupuncture, no treatment or conventional medication for AR.Data extraction and analysisTwo researchers extracted data independently of each other using a predesigned data acquisition form, and results were cross-checked after completion. The primary outcome was symptom score (Total Nasal Symptom Score or Visual Analogue Scale), and the secondary outcomes were the AR control questionnaire, quality of life (QoL) score (Different versions of Rhinoconjunctivitis Quality of Life Questionnaire), medication score (use of rescue medication), mental health score, total IgE, adverse event rate, clinical economic indicators, and patient satisfaction score. Standardized mean difference (SMD) or mean difference (MD) with 95% confidence interval was used to calculate the effect size for continuous data, while risk ratio with 95% CI was used for dichotomous data.ResultsThirty studies were included in this review. Compared with sham acupuncture, FNA significantly reduced the symptom score (SMD: ?0.29 [?0.43, ?0.15]), AR’s impact on QoL (SMD: ?0.23 [?0.37, ?0.08]) and medication score (SMD: ?0.3 [?0.49, ?0.11]). Compared with no treatment, FNA dramatically reduced the symptom score (SMD: ?0.8 [?1.2, ?0.39]) and AR’s impact on QoL (SMD: ?0.82 [?1.13, ?0.52]). There were no increased rates of adverse events with FNA compared to sham acupuncture and no treatment. FNA increased patient satisfaction and may be cost-effective. Most pieces of evidence from the above two comparisons were of high confidence. Moreover, FNA significantly outperformed conventional medication in reducing the symptom score (SMD: ?0.48 [?0.85, ?0.1]) and displayed a lower rate of adverse events, but the quality of evidence was very low.ConclusionFNA is an effective and safe intervention for AR and can help with symptom relief, QoL improvement, reducing medication usage, and increasing patient satisfaction. Further studies are needed to verify its cost-effectiveness and superiority over conventional medication and the best therapeutic strategies.     

张氏头针治疗儿童多发性抽动症的随机对照临床研究＊

目的 观察张氏头针治疗儿童多发性抽动症的临床疗效。方法 2019年3月至2020年12月共招募多发性抽动症儿童60例，随机分为头针组和硫必利组，每组各30例。头针组采用毫针针刺双侧运动区、舞蹈震颤控制区及百会、印堂，每周治疗3次，1个月为1个疗程，共治疗4个疗程；硫必利组给予盐酸硫必利片50-100 mg/次，2次/天，1个月为1个疗程，共治疗4个疗程。比较两组患者治疗前后耶鲁综合抽动严重程度量表（Yale global Tic severity scale，YGTSS）、中医证候积分、SF-36健康调查简表（the MOS item short from health survey，SF-36）及临床疗效评价结果。结果 头针组合硫必利组组内比较：二组的YGTSS评分、中医证候积分与治疗前相比具有显著统计学差异（P<0.05），SF-36评分中头针组在生理功能、生理职能、总体健康、情感职能、心理健康等5个维度的评分高于治疗前，差异有统计学意义（P<0.05）；硫必利组在生理功能、生理职能、总体健康、心理健康等5个维度的评分高于治疗前，差异有统计学意义（P<0.05）；头针组合硫必利组组间比较：头针组治疗后YGTSS评分、中医证候积分均低于硫必利组，差异有统计学意义（P<0.05），头针组在SF-36量表中总体健康和心理健康2个维度照优于硫必利组，差异有统计学意义（P<0.05）；治疗结束3个月随访，头针组YGTSS评分、中医证候积分均低于硫必利组，差异有统计学意义（P<0.05）。结论 张氏头针能够很好的改善多发性抽动症的临床症状，提高其生活质量。