Anaplastic gangliogliomas of the spinal cord: a scoping review of the literature

Neurosurgical Review - Gangliogliomas (GGs) are rare, usually low-grade tumors that account for 1–2% of all central nervous system (CNS) neoplasms. Spinal GGs are exceedingly rare (1% of all...     

Peak Cough Flow Fails to Detect Upper Airway Collapse During Negative Pressure Titration for Cough-Assist

ObjectiveTo study the ability of peak cough flow (PCF) and effective cough volume, defined as the volume exsufflated >3 L/s, to detect upper airway collapse during mechanical insufflation-exsufflation (MI-E) titration in neuromuscular patients.DesignProspective observational study.SettingRehabilitation hospital.ParticipantsPatients (N=27) with neuromuscular disease causing significant impairment of chest wall and/or diaphragmatic movement.InterventionsThe lowest insufflation pressure producing the highest inspiratory capacity was used. Exsufflation pressure was decreased from ?20 cm H₂O to ?60/?70 cm H₂O, in 10-cm H₂O decrements, until upper airway collapse was detected using the reference standard of flow-volume curve analysis (after PCF, abrupt flattening or flow decrease vs previous less negative exsufflation pressure).Main Outcome MeasuresPCF and effective cough volume profiles during expiration with MI-E.ResultsUpper airway collapse occurred in 10 patients during titration. Effective cough volume increased with decreasing expiratory pressure then decreased upon upper airway collapse occurrence. PCF continued to increase after upper airway collapse occurrence. In 5 other patients, upper airway collapse occurred at the initial ?20 cm H₂O exsufflation pressure, and during titration, PCF increased and effective cough volume remained unchanged at <200 mL. PCF had 0% sensitivity for upper airway collapse, whereas effective cough volume had 100% sensitivity and specificity.ConclusionOf 27 patients, 15 experienced upper airway collapse during MI-E titration. Upper airway collapse was associated with an effective cough volume decrease or plateau and with increasing PCF. Accordingly, effective cough volume, but not PCF, can detect upper airway collapse.     

Exploiting pre‐rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis

Diamond Blackfan anemia (DBA), a syndrome primarily characterized by anemia and physical abnormalities, is one among a group of related inherited bone marrow failure syndromes (IBMFS) which share overlapping clinical features. Heterozygous mutations or single‐copy deletions have been identified in 12 ribosomal protein genes in approximately 60% of DBA cases, with the genetic etiology unexplained in most remaining patients. Unlike many IBMFS, for which functional screening assays complement clinical and genetic findings, suspected DBA in the absence of typical alterations of the known genes must frequently be diagnosed after exclusion of other IBMFS. We report here a novel deletion in a child that presented such a diagnostic challenge and prompted development of a novel functional assay that can assist in the diagnosis of a significant fraction of patients with DBA. The ribosomal proteins affected in DBA are required for pre‐rRNA processing, a process which can be interrogated to monitor steps in the maturation of 40S and 60S ribosomal subunits. In contrast to prior methods used to assess pre‐rRNA processing, the assay reported here, based on capillary electrophoresis measurement of the maturation of rRNA in pre‐60S ribosomal subunits, would be readily amenable to use in diagnostic laboratories. In addition to utility as a diagnostic tool, we applied this technique to gene discovery in DBA, resulting in the identification of RPL31 as a novel DBA gene. Am. J. Hematol. 89:985–991, 2014. © 2014 Wiley Periodicals, Inc.     

Catheter ablation of atrial fibrillation in the elderly

Background Atrial fibrillation （AF） catheter ablation has emerged as a promising treatment strategy for AF, but has not been widely adopted in the elderly population. The present study aimed to determine the safety and efficacy of AF catheter ablation in the elderly popula-tion. Methods and Results The study population consisted of 316 patients with paroxysmal AF who underwent left atrial ablation. Ninety-five patients were≥65 years （48 males, mean age 68.9 ± 3.0 years old） and 221 patients were〈65 years old （130 males, mean age 52.5 ± 10.4 years old）. After a mean follow-up period of 34.0 ± 15.1 months, 55 （57.9%） patients in the elderly group were free from ar-rhythmia recurrence compared with 149 （67.4%） patients in the younger group （P=0.169）. Procedural complications were uncommon in both study groups. In logistic regression analysis, left atrial diameter （P=0.003）, hypertension （P=0.001）, dyslipidemia （P=0.039）, and coronary artery disease （P=0.018） were independent predictors of AF recurrence in the elderly population. Conclusions Catheter ablation of AF is safe and effective in older patients. Invasive strategies should be considered as an alternative choice in symptomatic elderly patients with AF.     

44Sacral extracorporeal magnetic stimulation is an effective treatment for pelvic floor dyssynergia; Comparative study with biofeedback therapy

Background: Recent development of extracorporeal magnetic stimulation (ECMS) which uses current‐changing magnetic fields allows the induction of electrical stimulation in the desired deep tissue. Recent study showed the sacral nerve stimulation reduces corticoanal excitability that may play a functional role in anal continence mechanisms. Preliminary study shows that ECMS of sacral nerve can modify pelvic floor function and expel rectal balloon in patients with pelvic floor dyssynergia (PFD). Aims: To evaluate the effect of ECMS compared with biofeedback therapy (BF) in patients with PFD. Methods and Materials: Thirty‐eight patients who fulfilled Rome II criteria for PFD by colon transit time and anorectal function tests, were randomly treated with 8 sessions of ECMS (2/weeks; n = 19) at prone position or BF (2/weeks; n = 19) at sitting position. Stimulation parameters were set at 50–80% of maximum intensity, 10 and 50 Hz frequency, 3 s burst length with 3 and 6 s off using arm‐typed stimulator (BioCom‐1000, Mcube Co., Korea). Symptom scores for constipation with/without anorectal function test were repeatedly measured after each treatment. Response was defined as 50% or more decreased symptom score after treatment (partial response: 30–50%, poor: <30%). Results: Fifteen patients (age 49.1 ± 13.4 years, mean ± SD; 4 men) completed 8 session of BF and 14 patients (54.5 ± 17.6 years, 3 men) completed 8 session of ECMS. Four patients of BF group discontinued treatment due to unsatisfactory therapeutic effect (n = 1) and withdrew consent (n = 3) and 5 patients of ECMS group discontinued treatment because of same reasons (n = 1, 4). Total symptom scores were significantly decreased after treatment of 8 session in both treatment groups (13.4 ± 6.6 vs. 4.3 ± 4.0 for BF, p = 0.009; 14.9 ± 5.6 vs. 3.4 ± 4.0 for ECMS, p < 0.001). Bowel movements per week were also significantly increased after treatment in both groups (median 2 vs. 7 for BF, p = 0.035; median 2 vs. 7 for ECMS, p = 0.008). Thirteen out of 15 patients showed response in BF group and 12 out of 14 showed good response in ECMS group. No adverse effects in both groups. Conclusions: ECMS is as effective as BF for the treatment of PFD. Long‐term effect of ECMS for the patients with pelvic floor dyssynergia need to be evaluated in the near future.