13例胰岛细胞瘤的诊治体会

目的：探讨胰岛细胞瘤的诊断方法及治疗效果。方法：对1994-2006年治疗的13例胰岛细胞瘤患者临床资料进行回顾性分析，总结胰岛细胞瘤的诊断和治疗方法及其结果。结果：本组功能性胰岛细胞瘤9例，均为良性，均有典型的Whipple三联征。2例伴有脑症状，术前B超、CT检查9例，准确定位5例；DSA检查3例，准确定位2例；术中扪诊结合术中B超7例，准确定位7例。无功能性胰岛细胞瘤4例，良性2例，恶性2例．术前B超、CT检查均发现病灶，均需术中冰冻、术后病理才明确诊断。13例均实施手术治疗。结论：术前B超、CT、DSA及术中B超有助于胰岛细胞瘤准确定位，手术切除胰岛细胞瘤可获得满意效果.     

低频电刺激腓总神经时脑部fMRI表现

目的 探讨功能性磁共振显像作为一种无创伤性的方法在周围神经经低频电刺激对大脑影响中的应用。方法 用低频电刺激志愿者右腓总神经处，同时用功能性磁共振显像扫描头部。结果 所得资料均用SPM99软件处理。双侧大脑半球的中央后回、颞上回和顶下小叶交汇处有一兴奋区域；双侧岛盖部(operculum)也有兴奋；另外，左侧大脑半球的中央后回顶上小叶、旁中央小叶和楔前叶交汇处有兴奋区；右侧大脑半球则在枕上回和顶上小叶之间有小片兴奋区域。结论 在周围神经经低频电刺激对大脑影响的研究中，我们发现功能性磁共振显像是一种有效的实用方法。     

Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort

PurposeHeritable ectopic mineralization disorders comprise a group of conditions with a broad range of clinical manifestations in nonskeletal connective tissues. We report the genetic findings from a large international cohort of 478 patients afflicted with ectopic mineralization.MethodsSequence variations were identified using a next-generation sequencing panel consisting of 29 genes reported in association with ectopic mineralization. The pathogenicity of select splicing and missense variants was analyzed in experimental systems in vitro and in vivo.ResultsA total of 872 variants of unknown significance as well as likely pathogenic and pathogenic variants were disclosed in 25 genes. A total of 159 distinct variants were identified in 425 patients in ABCC6, the gene responsible for pseudoxanthoma elasticum, a heritable multisystem ectopic mineralization disorder. The interpretation of variant pathogenicity relying on bioinformatic predictions did not provide a consensus. Our in vitro and in vivo functional assessment of 14 ABCC6 variants highlighted this dilemma and provided unambiguous interpretations to their pathogenicity.ConclusionThe results expand the ABCC6 variant repertoire, shed new light on the genetic heterogeneity of heritable ectopic mineralization disorders, and provide evidence that functional characterization in appropriate experimental systems is necessary to determine the pathogenicity of genetic variants.     

Comparison of facemask and mouthpiece interfaces for multiple breath washout measurements

Background

Different interfaces (mouthpiece/nose clip vs. facemask) are used during multiple breath washout (MBW) tests in young children.

抗抑郁治疗对功能性消化不良及水负荷的影响

目的 :探讨心理因素和水负荷实验与功能性消化不良的关系。方法 :对 5 3例FD组行氟西汀治疗 6周。使用HAMD评分和水负荷实验对治疗前后 5 3例FD实验组以及 2 3例对照组的精神状态和胃功能进行评估。结果 :FD组治疗前后进行HAMD(2 4项 )评分 ,治疗有效率为 84 .91% (45 /5 3)。治疗前FD组的HAMD评分 2 9.6 8± 9.2 7显著高于对照组 4 .6 8± 2 .73,P <0 .0 1;FD组的水负荷量 10 35± 35 3ml低于对照组 2 330± 135ml,两者差异显著 ,P <0 .0 1。治疗前HAMD评分 2 9.6 8± 9.2 7分明显高于治疗后 12 .4 3± 8.4 3分 ,P <0 .0 5 ;治疗前的水负荷量 10 35± 35 3ml明显低于治疗后的 2 0 10± 330ml,P <0 .0 5。结论 :对于FD患者 ,HAMD积分和水负荷实验是安全、简单、可靠的方法 ,既可反映心理因素在FD中的作用 ,又能评价当时FD患者的近端胃功能 ,为FD的抗抑郁疗法提供了重要理论基础。     

Validation of the Spinal Cord Injury–Functional Index for Use in Community-Dwelling Individuals With SCI

ObjectiveTo evaluate the psychometric properties of the Spinal Cord Injury–Functional Index (SCI-FI) instruments in a community-dwelling sample.DesignCross-sectional study.SettingCommunity setting.ParticipantsIndividuals (N=269) recruited from 6 SCI Model Systems sites.InterventionsNot applicable.Main Outcome MeasuresParticipants completed computer adaptive test and short form versions of 4 SCI-FI/Capacity (C) banks (ie, Ambulation, Basic Mobility, Fine Motor, Self-Care) and 1 SCI-FI/Assistive Technology (AT) bank (Wheelchair Mobility) at baseline and after 2 weeks. The Self-Report Functional Measure (SRFM) and the clinician-rated motor FIM were used to evaluate evidence of convergent validity.ResultsPearson correlations, intraclass correlation coefficients, minimal detectable change, and Bland-Altman plots supported the test-retest reliability of the SCI-FI instruments. Correlations were large with the SRFM (.69-.89) and moderate-to-large for the FIM instrument (.44-.64), supporting convergent validity. Known-groups validity was demonstrated by a significant main effect of injury level on all instruments and a main effect of injury completeness on the SCI-FI/C instruments. A ceiling effect was detected for individuals with incomplete paraplegia on the Fine Motor/C and Self-Care/C Short Forms.ConclusionFindings support the test-retest reliability, convergent validity, and known-groups validity of the SCI-FI/C instruments and the SCI-FI/AT Wheelchair Mobility instruments for use by community-dwelling individuals.     

Cancer Risk C (CR-C), a functional genomics test is a sensitive and rapid test for germline mismatch repair deficiency

PurposeHeritable pathogenic variants in the DNA mismatch repair (MMR) pathway cause Lynch syndrome, a condition that significantly increases risk of colorectal and other cancers. At least half of individuals tested using gene panel sequencing have a variant of uncertain significance or no variant identified leading to no diagnosis. To fill this diagnostic gap, we developed Cancer Risk C (CR-C), a flow variant assay test.MethodsIn response to treatment with an alkylating agent, individual assays of the nuclear translocation of MLH1, MSH2, BARD1, PMS2, and BRCA2 proteins and the nuclear phosphorylation of the ATM and ATR proteins distinguished pathogenic/likely pathogenic (P/LP) from benign/likely benign variants in MMR genes.ResultsA risk classification score based on MLH1, MSH2, and ATR assays was 100% sensitive and 98% specific. Causality of MMR P/LP variants was shown through gene editing and rescue. In individuals with suspected Lynch syndrome but no P/LP, CR-C identified most (73%) as having germline MMR defects. Direct comparison of CR-C on matched blood samples and lymphoblastoid cell lines yielded comparable results (r² > 0.9).ConclusionFor identifying germline MMR defects, CR-C provides augmentation to traditional panel sequencing through greater accuracy, shorter turnaround time (48 hours), and performance on blood with minimal sample handling.     

The development of the modified blaylock tool for occupational therapy referral (MBTOTR): a preliminary evaluation of its utility in acute care

Purpose: Acute hospitals are facing more complex admissions with older people at increased risk of functional decline. This study aimed to create and trial the feasibility of a new screening tool designed to identify patients at risk of functional decline who need an occupational therapy referral within acute care. Method: Ten screening tools were reviewed and the Modified Blaylock Tool for Occupational Therapy Referral (MBTOTR) was developed. The MBTOTR was applied in a retrospective chart review of 50 patients over the age of 65 years who were admitted to five acute wards. Data on patients identified at risk of functional decline were compared to patients who were referred to occupational therapy. Results: Occupational therapy referrals were made by ward staff for 14 out of the 50 patients reviewed (32.5%). Only 14% (n?=?7) of patients did not require a referral. The MBTOTR identified no irrelevant occupational therapy referrals. However, 66.5% of patients identified as needing an occupational therapy referral did not get one. Conclusion: The MBTOTR identified high risk acute patients requiring an occupational therapy referral who were not referred to occupational therapy. Use of the MBTOTR would facilitate early occupational therapy referrals for complex patients, and potentially better discharge outcomes.

• Implications for rehabilitation

• The MBTOTR can be used in acute care settings to facilitate relevant occupational therapy referrals.

• Without a screening tool, many older people who should have an occupational therapy assessment may not receive a referral for occupational therapy.

• Nursing and medical staff need to use this tool to identify older people in their care who may benefit from occupational therapy assessment and intervention.

• If occupational therapy referrals can be made early, this may contribute to reducing delays to discharge plans for complex patients.

     

脑性瘫痪患者肢体解痉、矫形与功能重建的手术治疗研究进展

目的 总结脑性瘫痪（脑瘫）患者在肢体解痉、矫形与功能重建等手术治疗方面的研究进展。方法 在中国知网、万方数据、PubMed等中、英文数据库,检索2000年1月—2021年6月发表的关于脑瘫诊断和治疗的相关文献,剔除内容不符、质量较低、证据等级不高、重复研究的文献,最终纳入47篇文献,从肢体解痉、矫形和功能重建3个方面对脑瘫的手术治疗进行总结、分析。结果 关于脑瘫的手术治疗,目前可供选择的术式有很多。（1）解痉手术：包括选择性脊神经后根切断术（SPR）和选择性周围神经切断术（SPN）。SPR手术可广泛降低肢体肌张力,更适合肢体强直型痉挛;而SPN降低肌群中单块肌肉张力的效果确切、创伤小,适用于局灶性痉挛。（2）矫形手术：通过肌腱转位、延长或紧缩调整肌张力、松解痉挛、缓解或矫正畸形,手术方式包括跟腱延长术、腘绳肌松解、胫后肌延长、胫前肌移位、内收肌切断术等。临床上矫形手术常作为解痉手术的重要补充,脑瘫患者往往需先接受SPR/SPN解除痉挛,再进行矫形手术。（3）肢体功能重建手术：包括神经段移植嵌入嫁接术、带血管的神经移位嫁接术及神经束间侧侧缝合术等改良周围神经移位术,可重建患者部分运动功能和感觉功能。结论 脑瘫的手术治疗非常重要,个体化制定分期手术方案,联合应用肢体解痉、矫形和改良神经移位术,对于缓解中枢神经系统损伤后的肢体痉挛、矫正畸形及重建肢体部分功能有积极的作用。