scholarly journals Real Time PCR; A new, fast and accurate technique in diagnosing the severe type of hemophilia A patients

Introduction: Hemophilia A (HA) is one of the most deleterious X-linked bleeding disorders in male patients. Early and rapid detection could provide management strategies for this disease. This study aims to improve the classic method for detection of important intron 22 inversion mutations (INV22). Materials and Methods: Whole blood samples were taken from 21 male children with a history of severe HA, referred to the Iranian comprehensive hemophilia care center. Two groups were involved for detection of INV22 and two methods were examined in a double-blind manner. The first method used a classical method, inverse PCR, and the second method was Real-time inverse PCR. Results: Results showed that both methods could separately detect the INV22 in 11 out of 21 patients with severe HA (52%) in the same accuracy, but with this difference that only one day was needed for detecting of INV22 by Real-time inverse PCR and on other hand 3 days were needed for the classical methods. Concusion: Because of the medical importance of early detection or prenatal/postnatal diagnosis of this disease, this study recommends the Real-time inverse PCR technique for the rapid detection of this mutation in well-equipped genetic laboratories everywhere.

2014 ◽  
Vol 17 (2) ◽  
pp. 367-369 ◽  
Author(s):  
K. Rypula ◽  
A. Kumala ◽  
P. Lis ◽  
K. Niemczuk ◽  
K. Płoneczka-Janeczko ◽  
...  

Abstract The study was carried out in seven reproductive herds of pigs. In three of them reproductive disorders were observed. Three herds consisted of 10-50 and four consisted of 120-500 adult sows and they were called small and medium, respectively. Fifty-seven adult sows were randomly selected from herds. Serum samples were tested using the complement fixation test and swabs from both eyes and from the vaginal vestibule were examined using real-time PCR. All serum samples were negative. Infected sows were present in each of the study herds. In total, there were 28 positive samples (53%, 28/48) in real-time PCR in sows with reproductive disorders and 35 (53%, 35/66) in sows selected from herds without problems in reproduction. One isolate proved to be Chlamydophila pecorum, whereas all the remaining were Chamydia suis


2020 ◽  
Vol 105 (4) ◽  
pp. 741-746
Author(s):  
M. Mentasti ◽  
K. Prime ◽  
K. Sands ◽  
S. Khan ◽  
M. Wootton

2021 ◽  
pp. 251660852098428
Author(s):  
Vikas Bhatia ◽  
Chirag Jain ◽  
Sucharita Ray ◽  
jay Kumar

Objective: To report a case of young male with stroke and bilateral internal carotid artery (ICA) dissection. Background: Cervical Artery Dissection in Stroke Study trial has provided some insight on management of patients with ICA dissection. However, there is a need to modify the management strategies as per specific clinical scenario. Design/Methods: Case report and literature review. Results: A 45-year-old male presented with 1 month old history of acute onset numbness of right half of the body with slurring of speech. Computed tomography angiography showed complete occlusion of left cervical ICA just beyond origin with presence of fusiform dilatation and spiral flap in right extracranial cervical ICA. The patient was started on antiplatelets and taken for endovascular procedure using 2-mesh-based carotid stents. Patient was discharged after 3 days on antiplatelet therapy. At 1-year follow-up, there were no fresh symptoms. Conclusion: This case emphasizes the role of successful endovascular management of carotid dissection in a young male. These clinical situations may not be fully represented in trials, and a case-based approach is required.


Nutrients ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 1206
Author(s):  
Rafael Guerrero-Bonmatty ◽  
Guadalupe Gil-Fernández ◽  
Francisco José Rodríguez-Velasco ◽  
Jordi Espadaler-Mazo

Background: Dietary supplements have been proposed to help manage blood cholesterol, including red yeast rice (RYR) extracts, plant sterols and stanols, beta-glucans, and some probiotics. This study was conducted to evaluate the efficacy of RYR (containing 10 mg of monacolin K) combined with 109 CFU of three Lactoplantibacillus plantarum strains (CECT7527, CECT7528, and CECT7529). Methods: A 12-week randomized, double-blinded, placebo-controlled clinical trial was conducted. In total, 39 adult patients were enrolled, having total cholesterol (TC) ≥200 mg/dL, and being statin-naïve or having recently stopped statin treatment because of intolerance. Active product or placebo were taken once daily, and subjects were evaluated at baseline, 6, and 12 weeks. Results: Study groups were comparable at baseline, except for history of recent hypercholesterolemia treatment (81% in active vs. 22% in placebo). Changes in LDL cholesterol and TC became significant compared to placebo (mean difference between groups and standard error of the mean = 23.6 ± 1.5 mg/dL, p = 0.023 and 31.4 ± 1.9 mg/dL, p = 0.011, respectively) upon adjusting for the baseline imbalance in hypercholesterolemia treatment. No adverse effects were noted during the study. Conclusion: This combination of 10 mg of monacolin K and L. plantarum strains was well tolerated and achieved a statistically significant greater reduction in LDL-C and TC in the intervention group compared to the placebo, once adjusting for recent history of hypercholesterolemia treatment.


2021 ◽  
Vol 4 ◽  
pp. 251581632110156
Author(s):  
Brian Plato ◽  
J Scott Andrews ◽  
Mallikarjuna Rettiganti ◽  
Antje Tockhorn-Heidenreich ◽  
Jennifer Bardos ◽  
...  

Objective: The efficacy of galcanezumab was evaluated in patients with episodic cluster headache and history of preventive treatment failure. Methods: In the randomized, 8-week, double-blind study (CGAL), patients with episodic cluster headache received once-monthly subcutaneous injections of galcanezumab 300 mg or placebo. Patients who completed CGAL and enrolled in an open-label study were queried for preventive treatment history. In a subset of patients with a known history of failure of verapamil or any other prior preventive treatment, a post hoc analysis of least square mean change from baseline in weekly cluster headache attack frequency across Weeks 1 to 3 was assessed. Results: Fifteen patients provided data for known history of prior preventive treatment failure (6 placebo, 9 galcanezumab), of whom 11 failed verapamil. The mean reduction in the weekly frequency of cluster headache attacks was greater with galcanezumab compared to placebo among patients with prior preventive treatment failure (8.2 versus 2.4); mean difference 5.8 (95% confidence interval [CI] 2.0, 13.6) and among patients with verapamil failure (10.1 versus 1.6); mean difference 8.5 (95% CI 0.4, 16.7). Conclusion: In this exploratory analysis of patients with a known history of prior preventive treatment failures, treatment with galcanezumab resulted in greater mean reductions in weekly cluster headache attacks compared with placebo. ClinicalTrials.gov: NCT02397473 (I5Q-MC-CGAL) NCT02797951 (I5Q-MC-CGAR)


2021 ◽  
pp. 019459982110089
Author(s):  
Quinn Dunlap ◽  
James Reed Gardner ◽  
Amanda Ederle ◽  
Deanne King ◽  
Maya Merriweather ◽  
...  

Objective Neck dissection (ND) is one of the most commonly performed procedures in head and neck surgery. We sought to compare the morbidity of elective ND (END) versus therapeutic ND (TND). Study Design Retrospective chart review. Setting Academic tertiary care center. Methods Retrospective chart review of 373 NDs performed from January 2015 to December 2018. Patients with radical ND or inadequate chart documentation were excluded. Demographics, clinicopathologic data, complications, and sacrificed structures during ND were retrieved. Statistical analysis was performed with χ2 and analysis of variance for comparison of categorical and continuous variables, respectively, with statistical alpha set a 0.05. Results Patients examined consisted of 224 males (60%) with a mean age of 60 years. TND accounted for 79% (n = 296) as compared with 21% (n = 77) for END. Other than a significantly higher history of radiation (37% vs 7%, P < .001) and endocrine pathology (34% vs 2.6%, P < .001) in the TND group, no significant differences in demographics were found between the therapeutic and elective groups. A significantly higher rate of structure sacrifice and extranodal extension within the TND group was noted to hold in overall and subgroup comparisons. No significant difference in rate of surgical complications was appreciated between groups in overall or subgroup analysis. Conclusion While the significantly higher rate of structure sacrifice among the TND population represents an increased morbidity profile in these patients, no significant difference was found in the rate of surgical complications between groups. The significant difference seen between groups regarding history of radiation and endocrine pathology likely represents selection bias.


2021 ◽  
pp. 000348942110125
Author(s):  
Mathieu Bergeron ◽  
John Paul Giliberto ◽  
Meredith E. Tabangin ◽  
Alessandro de Alarcon

Objectives: Post airway reconstruction dysphonia (PARD) is common and has a significant effect on the quality of life of patients. Vocal fold injection augmentation (VFIA) is one treatment that can be used to improve glottic insufficiency in some patients. The goal of this study was to characterize the use and outcomes of VFIA for PARD. Methods: Retrospective chart review from January 2007 to July 2018 at a tertiary pediatric care center. Consecutive patients with PARD who underwent VFIA, who had a preoperative voice evaluation and a follow-up evaluation within 3 months after VFIA (fat, carboxymethylcellulose gel, hyaluronic acid). Results: Thirty-four patients (20 female) underwent VFIA. The mean age at the time of the injection was 13.6 years (SD 6.1). Twenty patients (58.8%) had a history of prematurity and a mean of 1.8 open airway surgeries. After injection, 29/34 patients (85.3%) noted a subjective voice improvement. The baseline Consensus Auditory-Perceptual Evaluation of Voice (CAPE-V) overall severity score decreased by a mean of 5.7 (SD = 19.6) points, P = .12. Total pediatric Voice Handicap Index (pVHI) improved by 6.0 (SD = 19.5) points, from 57.4 (SD = 20.0) to 51.4 (SD = 17.2), P = .09. Functional pVHI subscore demonstrated a significant improvement, with a decrease of 3.4 (SD = 7.3) points, P = .02. All procedures were performed as an overnight observation and no complication occurred. Conclusion: Patients with PARD represent a complex subset of patients. VFIA is a straightforward intervention that may improve voice perception. Many patients reported subjective improvement despite minimal objective measurement. Further work is warranted to elucidate the role of injection in management of PARD


2021 ◽  
Vol 14 ◽  
pp. 175628642110019
Author(s):  
Hiroyuki Murai ◽  
Shigeaki Suzuki ◽  
Miki Hasebe ◽  
Yuji Fukamizu ◽  
Ema Rodrigues ◽  
...  

Background: Eculizumab, a humanized monoclonal antibody targeted to terminal complement protein C5, is approved in Japan for treatment of patients with anti-acetylcholine receptor antibody-positive (AChR+) generalized myasthenia gravis (gMG) whose symptoms are difficult to control with high-dose intravenous immunoglobulin (IVIg) therapy or plasmapheresis. Methods: This interim analysis of mandatory post-marketing surveillance in Japan assessed the safety and effectiveness of eculizumab at 26 weeks after treatment initiation in patients with AChR+ gMG. Results: Data were available for 40 adult patients in Japan [62.5% (25/40) female; mean age at eculizumab initiation, 51.0 years]. Fifteen patients had a history of thymoma. Six patients were excluded from the effectiveness analysis set due to participation in the open-label extension part of the phase III, randomized, double-blind, placebo-controlled REGAIN study [ClinicalTrials.gov identifier: NCT02301624]. After 26 weeks’ follow up, 32 patients (80%) were continuing eculizumab treatment. Adverse drug reactions were reported by seven patients [most frequently headache ( n = 3)]. One death was reported during eculizumab treatment (relationship unclear as determined by the treating physician) and there was one death 45 days after the last dose (considered unrelated). No meningococcal infections were reported. Mean (standard deviation) changes from baseline in Myasthenia Gravis-Activities of Daily Living (MG-ADL) and Quantitative Myasthenia Gravis (QMG) scores were −3.7 (2.61) ( n = 27) and −5.6 (3.50) ( n = 26), respectively, at 12 weeks, and −4.3 (2.72) ( n = 26) and −5.6 (4.02) ( n = 24), respectively, at 26 weeks. Improvements in MG-ADL and QMG scores were generally similar in patients with/without a history of thymoma. Frequency of IVIg use decreased following eculizumab initiation. Conclusion: In a real-world setting, eculizumab was effective and well tolerated for the treatment of AChR+ gMG in adult Japanese patients whose disease was refractory to IVIg or plasmapheresis. These findings are consistent with the efficacy and safety results from the global phase III REGAIN study of eculizumab.


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