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21.
Teimourian S Zomorodian E Badalzadeh M Pouya A Kannengiesser C Mansouri D Cheraghi T Parvaneh N 《British journal of haematology》2008,141(6):848-851
One of the rarest forms of chronic granulomatous disease (CGD) is caused by mutations in CYBA, which encodes the p22-phox subunit of the phagocyte NADPH oxidase, leading to defective intracellular killing. This study investigated eight patients (six males and two females) from seven consanguineous, unrelated families with clinical CGD, positive family history and p22-phox deficiency. Mutation analysis of CYBA showed six different novel mutations: deletion of exons 3, 4 and 5; a missense mutation in exon 6 (c.373G>A); a splice site mutation in intron 5 (c.369+1G>A); a frameshift in exon 6 (c.385delGAGC); a frameshift in exon 3 (c.174delG); and a frameshift in exon 4 (c.223delC). 相似文献
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Shahram Agah Sahar Tavakoli Hajar Nikbakht Mehrdokht Najafi Abdolreza Al-agha 《Indian journal of gastroenterology》2014,33(4):310-315
Background and Aims
About 10 % of cirrhotic patients are unresponsive to sodium restriction and diuretics and develop refractory ascites. Such patients usually require recurrent large-volume paracentesis and lots of hospital admissions. Hereby, we introduce a method applying a central vein (CV) catheter for large-volume paracentesis in patients with refractory ascites in up to 4 days associated with sodium restriction and high dose of diuretics.Methods
Non-tunneled triple lumen CV catheter was used to drain the ascites fluid of 30 cirrhotic patients. After precise percussion, the point of highest fluid accumulation was marked for puncture. Then, the skin and subcutaneous tissue were anesthetized. CV catheter set guide wire was entered into the peritoneal cavity and the dilator of the CV catheter set was passed through the guide wire and extracted after some rotations around its insertion site on the skin. The catheter was passed over the guide wire and the guide wire was extracted gradually from one of the lumens and fixed to the skin.Results
Nineteen males and 11 females with mean (±SD) age of 59.4?±?11.7 years old underwent the procedure. A minimum of 9 and maximum of 29 L (12?±?6.6 L) ascites fluid drained during a minimum of 2 and maximum of 5 days of hospital stay. All catheters were patent during the drainage. None of the patients developed hemodynamic instability. Number of re-hospitalizations for paracentesis was 1.9 times during the following year. No complication occurred.Conclusions
This technique is a simple noninvasive method that can be performed in the endoscopy unit or even at the patient’s bedside and may reduce the need for repeated admissions. 相似文献23.
Shahram Ghanaati Sarah Al-Maawi Torsten Conrad Jonas Lorenz Ralf Rössler Robert Sader 《Journal of cranio-maxillo-facial surgery》2019,47(10):1633-1644
Three-dimensional augmentation in severely atrophic bone and after cancer resection is a challenging clinical indication that is mostly solved using autologous bone transplantation. The development of the digital technique along with the additive manufacturing and three-dimensional (3D) printing opened new avenues for reconstructive oral and maxillofacial surgery. Therefore, patient-specific titanium mesh is a novel means of stabilizing the augmentation region using particulate bone substitute materials (BSMs) combined with autologous bone as a minimally invasive concept. However, dehiscence is a frequently reported complication in this field. Therefore, the aim of the present case series was to introduce a biomaterial-based regenerative concept in terms of exposed open healing to overcome the dehiscence related to 3D-titanium meshes. Additionally, this case series presents a novel protocol using a combination of xenogeneic BSMs with an autologous blood concentrate system (platelet-rich fibrin [PRF]) and collagen matrices without any autologous transplantation. Seven patients with alveolar ridge atrophy with different etiologies (cancer resection, severe atrophy after tooth loss, aplasia, trauma, implant infections) were treated using the open-healing concept. Therefore, after 3D augmentation using the described biomaterials, the flap margins were approximated, and the gap between the flap margins was bridged using a collagen matrix loaded with liquid PRF that was then covered by either a PTFE-based membrane or sterile latex. No periosteum splitting was performed at any time point. After a healing period of 4–8 months, all patients received dental implants as virtually planned. Bone biopsies were performed during dental insertion for histological evaluation. The augmentation area displayed a vital and well-vascularized newly formed bone that incorporated the BSM granules to build a hybrid bone. Additionally, open healing resulted in newly formed soft tissue without any signs of scar formation or fibrosis. The regenerated soft tissue was used to build a new flap during implant insertion and showed good functional and aesthetic results after implant insertion. The open-healing concept of the regeneration of the soft tissue along with bone tissue to regenerate a harmonic implantation bed is a minimally invasive intervention without periosteum splitting or large flap mobilization. However, further controlled clinical studies are needed to evaluate this concept in a larger patient cohort to outline the potential clinical benefit. 相似文献
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SeyedAhmad SeyedAlinaghi Shahram Oliaei Shaghayegh Kianzad Amir Masoud Afsahi Mehrzad MohsseniPour Alireza Barzegary Pegah Mirzapour Farzane Behnezhad Tayebeh Noori Esmaeil Mehraeen Omid Dadras Fabricio Voltarelli Jean-Marc Sabatier 《World Journal of Virology》2020,9(5):79-90
BACKGROUNDThere is recently a concern regarding the reinfection and reactivation of previously reCoVered coronavirus disease 2019 (CoVID-19) patients.AIMTo summarize the recent findings and reports of CoVID-19 reinfection in patients previously reCoVered from the disease.METHODSThis study was a systematic review of current evidence conducted in August 2020. The authors studied the probable reinfection risk of novel coronavirus (CoVID-19). We performed a systematic search using the keywords in online databases. The investigation adheres to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist to ensure the reliability and validity of this study and results.RESULTSWe reviewed 31 studies. Eight studies described reCoVered patients with reinfection. Only one study reported reinfected patients who died. In 26 studies, there was no information about the status of the patients. Several studies indicated that reinfection is not probable and that post-infection immunity is at least temporary and short.CONCLUSIONBased on our review, we concluded that a positive polymerase chain reaction retest could be due to several reasons and should not always be considered as reinfection or reactivation of the disease. Most relevant studies in positive retest patients have shown relative and probably temporary immunity after the reCoVery of the disease. 相似文献
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Firouze Hatami Mohammad Mahdi Rabiei Farid Javandoust Gharehbagh Mohamad Amin Pourhoseingholi Shahram Sabeti Mahnaz Kheyrian Ilad Alavi Darazam 《Journal of clinical laboratory analysis》2022,36(2)
IntroductionRT‐PCR is widely used as a diagnostic test for the detection of SARS‐CoV‐2. In this study, we aim to describe the clinical utility of serial PCR testing in the final detection of COVID‐19.MethodWe collected multiple nasopharyngeal swab samples from patients who had negative RT‐PCR test on the first day after hospitalization. RT‐PCR tests were performed on the second day for all patients with initial negative result. For the patients with secondary negative results on day 2, tertiary RT‐PCR tests were performed on day 3 after hospitalization.ResultAmong 68 patients with initial negative test results, at the end of follow‐up, the mortality number was 20 (29.4%). About 33.8% of patients had subsequent positive PCR test results for the second time and 17.4% of the patients who performed third PCR test had positive result.ConclusionBased on this study, serial RT‐PCR testing is unlikely to yield additional information. 相似文献
29.
Yusuf A. Rajabally MD FRCP H. Stephan Goedee MD PhD Shahram Attarian MD PhD Hans-Peter Hartung MD PhD FRCP 《Muscle & nerve》2020,62(1):34-40
Since March 2020, the COVID-19 pandemic has led to the need to re-think the delivery of services to patients with chronic dysimmune neuropathies. Telephone/video consultations have become widespread but have compounded concerns about objective evaluation. Therapeutic decisions need, more than ever before, to be considered in the best interests of both patients, and society, while not denying function-preserving/restoring treatment. Immunoglobulin therapy and plasma exchange, for those treated outside of the home, expose patients to the hazards of hospital or outpatient infusion centers. Steroid therapy initiation and continuation pose increased infectious risk. Immunosuppressant therapy similarly becomes highly problematic, with the risks of treatment continuation enhanced by uncertainties regarding duration of the pandemic. The required processes necessitate considerable time and effort especially as resources and staff are re-deployed to face the pandemic, but are essential for protecting this group of patients and as an integral part of wider public health actions. 相似文献
30.
Attarian Shahram Fatehi Farzad Rajabally Yusuf A. Pareyson Davide 《Journal of neurology》2020,267(8):2198-2206
Journal of Neurology - Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent sensory and motor neuropathy in individual nerves starting in adolescence or... 相似文献