A case of sudden cardiac death due to mitochondrial disease

A 25-year-old, emaciated man without medical treatment was found to have died suddenly at home by his mother. At autopsy, there were no injuries to his body, but significant circulatory insufficiency was observed. Electron microscopy revealed abnormal mitochondria in cells of the cardiac conduction system. The conduction system was filled with mitochondrial size abnormalities and mitochondrial cristae abnormalities. No notable abnormal findings were observed in other organs. Genetic examination of the blood revealed the mitochondrial pathogenetic variant m.3243A>G. Epileptic seizures, diabetic ketoacidosis, and hyperosmolar hyperglycemic state were unlikely to be the cause of sudden death. The cause of death was diagnosed as arrhythmia possibly induced by the failure of the cardiac conduction system due to mitochondrial disease. This is a rare case of sudden death caused by an accumulation of abnormal mitochondria in the cardiac conduction system.     

Inter-rater Accuracy and Reliability of a Palpation Protocol of the C7 Spinous Process Comprising a Combination of 3 Traditional Palpation Techniques

ObjectiveThe purpose of this study was to determine the accuracy and intrarater reliability of a palpatory protocol based on a combination of 3 palpatory methods to identify both the C7 spinous process (C7 SP) and the factors that affect the errors and inaccuracy of palpation.MethodsTwenty-five women between the ages of 18 and 60 years were submitted to a palpation protocol of the C7 SP, and a radiopaque marker was fixed on the skin at the possible location of the vertebrae. A radiograph and a photograph of the cervical spine were obtained in the same posture by a first rater. A second rater performed the same palpation protocol and took a second photograph. The accuracy and measurement error of the palpation protocol of C7 SP were assessed through radiographic images. The inter-rater reliability was estimated by the interclass correlation coefficient and assessed using photographs of each rater. The Pearson's correlation coefficients (r), the Fisher exact test, and the χ² test were used to identify the factors associated with the error and inaccuracy of palpation.ResultsAccuracy of the C7 palpation was 76% with excellent reliability (interclass correlation coefficient = 0.99). There was a moderate correlation between weight and the measurement of palpation error (r = –0.6; P = .003). One hundred percent of inaccuracy palpation was related to the increased soft-tissue thickness (P = .005) in the cervical region.ConclusionThe palpation protocol described in this study was accurate and presented excellent reliability in identifying the C7 SP. Increased weight and dorsocervical fat pad were associated to error and palpation inaccuracy, respectively.     

Importancia de algunos aspectos técnicos del procedimiento de estimulación percutánea del nervio tibial posterior en pacientes con incontinencia fecal

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颈椎终板弧形高度与椎间隙后缘骨赘的相关性研究

目的：通过对颈椎病患者上下终板弧形高度、椎间隙高度与椎间隙后骨赘的影像学测量，研究其相关性及其临床应用价值。方法：收集2017年9月至2018年9月颈椎病手术108例患者的临床资料，男48例，年龄30~72岁，平均52岁，女60例，年龄37~79岁，平均54岁。其中C_2，3 6例，C_3，4 15例，C_4，5 32例，C_5，6 42例，C_6，7 13例。术前及术后摄颈椎X线片，利用PACS（Picture Archiving and Communication Systems）调阅影像，测量椎间隙的下上终板弧形高度（L₁，L₂），椎间隙高度（L₃）及后方骨赘的宽度（L₄）。利用Spearman分析它们之间的相关性。结果：L₁与L₄对比（r=-0.34，P<0.05），L₃与L₄对比（r=-0.36，P<0.05），存在负相关。L₁与L₃对比（r=0.38，P<0.05），L₂与L₃对比（r=0.48，P<0.05），存在正相关。L₁与L₂对比（P>0.05），L₂与L₄对比（P>0.05），差异无统计学意义。结论：下终板弧形高度与椎间隙后缘骨赘宽度呈负相关，通过其测量可明确颈椎退变程度，对颈椎病的早期防治有指导意义。     

神经源性声带运动障碍与喉神经电生理

声带运动障碍的病因和临床表现复杂多变，涉及多学科，从病因上分为神经源性和非神经源性。对于神经源性声带运动障碍的诊治，首先通过喉镜等检查明确有无声带运动障碍及严重程度，值得注意的是声带纵向张力变化障碍也属于运动障碍的范畴；然后采用喉肌电图（LEMG）检查进行定性分析，在确诊神经源性损伤后，进一步对神经损伤部位进行定位诊断并查找导致神经损伤的病因；同时根据喉部神经电生理评估结果，判断预后。最后综合上述的评估结果制定相应的治疗策略。     

Reproducibility (test–retest) of vestibular evoked myogenic potential

IntroductionThere is still no consensus in the literature as to the best acoustic stimulus for capturing vestibular evoked myogenic potential (VEMP). Low-frequency tone bursts are generally more effective than high-frequency, but recent studies still use clicks. Reproducibility is an important analytical parameter to observe the reliability of responses.ObjectiveTo determine the reproducibility of p13 and n23 latency and amplitude of the VEMP for stimuli with different tone-burst frequencies, and to define the best test frequency.MethodsCross-sectional cohort study. VEMP was captured in 156 ears, on the sternocleidomastoid muscle, using 100 tone-burst stimuli at frequencies of 250, 500, 1000, and 2000 Hz, and sound intensity of 95 dB nHL. Responses were replicated, that is, recorded three times on each side.ResultsNo significant difference was observed for p13 and n23 latencies of the VEMP, captured at three moments with tone-burst stimuli at 250, 500, and 1000 Hz. Only the frequency of 2000 Hz showed a difference between captures of this potential (p < 0.001). p13 and n23 amplitude analysis was also similar in the test–retest for all frequencies analyzed.Conclusionp13 and n23 latencies and amplitudes of VEMP for tone-burst stimuli at frequencies of 250, 500, and 1000 Hz are reproducible.     

Subacute posttraumatic ascending myelopathy (SPAM): A potential complication of subarachnoid shunt for syringomyelia?

Context: Treatment of primary spinal syringomyelia is still controversial. Among others, shunting syrinx fluid to the subarachnoid, peritoneal or pleural space has been utilized with varying success. Shunt obstruction, migration, and infection represent the most common complications of these procedures.

Findings: The authors present the case of an 81-year-old woman who developed an unusual neurological deterioration resembling a subacute posttraumatic ascending myelopathy (SPAM) after the insertion of a syringosubarachnoid shunt for the treatment of slow-growing D10 syringomyelia.

Conclusion/Clinical Relevance: To date, no cases of SPAM secondary to the insertion of a syringosubarachnoid shunt for the treatment of syringomyelia have been reported. The potential pathogenesis related to this phenomenon is discussed.