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ecoming one of the comprehensive, inexpensive, and convenient tools for genetic diagnosis of CMT.
Our findings link a novel PMP22 mutation with a clinical diagnosis of CMT3. The link between gene variation and CMT phenotype may help to reveal the structure and function of PMP22 protein and the pathogenesis of CMT. This study adds further support to the heterogeneity of PMP22 related CMT and provides solid functional evidence for the pathogenicity of the p.(L19delinsVLL) PMP22 variant. Moreover, with the development of high-throughput sequencing technology, the combination of next-generation sequencing (NGS) and conventional Sanger sequencing is becoming one of the comprehensive, inexpensive, and convenient tools for genetic diagnosis of CMT.
Levels of pleural fluid adenosine deaminase (ADA), a useful marker for the diagnosis of tuberculous pleurisy, are elevated in some reports of immunoglobulin G4 (IgG4)-related pleural effusion. We describe a patient with IgG4-related pleural effusion who exhibited a high concentration of ADA. Furthermore, we reviewed the literature to compare patients with IgG4-related pleural effusion and tuberculous pleurisy.
A 75-year-old male patient had dyspnea for 1 month with a left pleural effusion that was exudative, lymphocyte dominant. The pleural fluid test results revealed a total protein (TP) concentration of 6.60 g/dl, a lactate dehydrogenase (LDH) level of 383 IU/dl, and an ADA concentration of 54.5 U/L. An interferon gamma release assay showed a negative result.
Histological analysis of the thoracoscopic pleural biopsy revealed lymphoplasmacytic infiltration, with 80 IgG4-positive plasma cells/high-power field, and an IgG4/IgG ratio of approximately 40% to 50%. Other diseases were ruled out based on symp4).
An intravitreal dexamethasone (IV-DEX) implant is safe and effective for the treatment of macular edemas; however, the efficacy of IV-DEX implants in silicone oil (SO)-filled eyes remains controversial. There is no previous study comparing an IV-DEX implant in the same eye with and without intravitreal SO.
A 72-year-old man with proliferative diabetic retinopathy, macular edema, and rhegmatogenous retinal detachment, treated with pars plana vitrectomy with SO tamponade had refractory macular edema.
Refractory macular edema.
Subtenon triamcinolone injection, intravitreal anti-vascular endothelial growth factor injection, and IV-DEX implantation were performed; this was followed by intravitreal SO removal combined with IV-DEX implantation.
The macular edema did not decrease significantly with posterior subtenon triamcinolone injection, intravitreal anti-vascular endothelial growth factor injection, and IV-DEX implantation; however, the edema was relieved after SO removal and a new IV-DEX implantation.
IV-DEX implant may be less efficacious in the treatment of macular edema in an SO-filled eye than that in a normal vitreous cavity.
IV-DEX implant may be less efficacious in the treatment of macular edema in an SO-filled eye than that in a normal vitreous cavity.
Noninvasive continuous arterial pressure monitoring may be clinically useful in patients who require continuous blood pressure monitoring in situations where arterial catheter placement is limited. Many previous studies on the accuracy of the noninvasive continuous blood pressure monitoring method reported various results. However, there is no research on the effectiveness of noninvasive arterial pressure monitoring during one-lung ventilation. The purpose of this study was to compare arterial blood pressure obtained through invasive method and noninvasive method by using ClearSight during one-lung ventilation.In this retrospective observational study, a total of 26 patients undergoing one-lung ventilation for thoracic surgery at a single institution between March and July 2019 were recruited. All patients in this study were cannulated on their radial artery to measure continuously invasive blood pressures and applied ClearSight on the ipsilateral side of the cannulated arm. We compared and analyzed the agragreement with the invasive method.
The association between cytochrome P450 2C19 (CYP2C19) polymorphisms and neurological deterioration in stroke or transient ischemic attack (TIA) patients is not completely understood. Hence, we performed a systematic review and meta-analysis of prospective cohort studies to quantify this association.
PubMed, Cochrane Library, Excerpta Medica Database, China National Knowledge Infrastructure and WanFang databases were searched for studies published up to April 2019. Prospective cohort studies that reported an association between CYP2C19 polymorphisms and neurological deterioration in stroke/TIA patients were included. Data on risk ratio (RR) and 95% confidence intervals (CI) were extracted and pooled by the authors. Preferred Reporting Items for Systematic reviews and Meta-Analyses guidelines were followed.
Twelve eligible studies were included. Twelve studies reported CYP2C19∗2, ∗3 loss-of-function alleles and 5 studies reported CYP2C19∗17 gain-of-function allele. Compared to non-carriers, carriers of CYP2C19∗2, ∗3 loss-of-function alleles had a significantly higher risk of neurological deterioration (RR, 1.63; 95%CI, 1.32-2.02). Conversely, carriers of CYP2C19∗17 gain-of-function allele had a significantly lower risk of neurological deterioration (RR, 0.520; 95%CI, 0.393-0.689) compared to non-carriers.
This meta-analysis demonstrated that the carriers of CYP2C19∗2, ∗3 loss-of-function alleles have an increased risk of neurological deterioration compared to non-carriers in stroke or TIA patients. Additionally, CYP2C19∗17 gain-of-function allele can reduce the risk of neurological deterioration.
This meta-analysis demonstrated that the carriers of CYP2C19∗2, ∗3 loss-of-function alleles have an increased risk of neurological deterioration compared to non-carriers in stroke or TIA patients. Additionally, CYP2C19∗17 gain-of-function allele can reduce the risk of neurological deterioration.
Pipeline embolization devices (PLEDs) are flow diverting stents that have exhibited be safe and efficient in the treatment of complex aneurysms. Nevertheless, in-stent stenosis (ISS) has been reported as one of the cardinal complications associated with PLED. The association of wall malapposition and ISS in patient treated with PLED has not been reported.A retrospective study was conducted to identify patients with ISS after implantation of PLED as treatment for intracranial aneurysms from April 25, 2018 to April 24, 2019. ABT-199 research buy Incidence of ISS and its associated causes such as sharp change of the PLED, distal wall malapposition, inconsistent compliance between parent artery as well as the PLED occlusion due to intimal hyperplasia and vessel tortuosity. Assessment of conservative treatment and retreatment outcomes of ISS were documented.In all, 6 ISS cases were identified by 2 independent neurointerventionalists out of 118 aneurysm patients treated with PLED. Thus, the incidence rate of ISS in patients treated with PLED was as low as 5% at our institution compared to other studies.