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101.
102.
Panostotic Expansile Bone Disease With Massive Jaw Tumor Formation and a Novel Mutation in the Signal Peptide of RANK
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Anne L Schafer Steven Mumm Ivan El‐Sayed William H McAlister Andrew E Horvai Andrea M Tom Edward C Hsiao Frederick V Schaefer Michael T Collins Mark S Anderson Michael P Whyte Dolores M Shoback 《Journal of bone and mineral research》2014,29(4):911-921
Precise regulation of bone resorption is critical for skeletal homeostasis. We report a 32‐year‐old man with a panostotic expansile bone disease and a massive hemorrhagic mandibular tumor. Originally from Mexico, he was deaf at birth and became bow‐legged during childhood. There was no family history of skeletal disease. Puberty occurred normally, but during adolescence he experienced difficulty straightening his limbs, sustained multiple fractures, and developed a bony tumor on his chin. By age 18 years, all limbs were misshapen. The mandibular mass grew and protruded from the oral cavity, extending to the level of the lower ribs. Other bony defects included a similar maxillary mass and serpentine limbs. Upon referral at age 27 years, biochemical studies showed serum alkaline phosphatase of 1760 U/L (Nl: 29‐111) and other elevated bone turnover markers. Radiography of the limbs showed medullary expansion and cortical thinning with severe bowing. Although the jaw tumors were initially deemed inoperable, mandibular mass excision and staged partial maxillectomy were eventually performed. Tumor histopathology showed curvilinear trabeculae of woven bone on a background of hypocellular fibrous tissue. Fibrous dysplasia of bone was suspected, but there was no mutation in codon 201 of GNAS in samples from blood or tumor. His clinical and radiographic findings, elevated serum markers, and disorganized bone morphology suggested amplified receptor activator of NF‐κB (RANK) signaling, even though his disorder differed from conditions with known constitutive activation of RANK signaling (eg, familial expansile osteolysis). We found a unique 12‐base pair duplication in the signal peptide of TNFRSF11A, the gene that encodes RANK. No exon or splice site mutations were found in the genes encoding RANK ligand or osteoprotegerin. Alendronate followed by pamidronate therapies substantially decreased his serum alkaline phosphatase activity. This unique patient expands the phenotypes and genetic basis of the mendelian disorders of RANK signaling activation. © 2014 American Society for Bone and Mineral Research. 相似文献
103.
The neuropeptide substance P (SP) triggers a variety of tumor-promoting signaling pathways through the activation of neurokinin-1receptor (NK1R), a class of neurokinin G protein-coupled receptors superfamily. Recent researches in our and other laboratories have shown the overexpression of both SP and NK1R in breast cancer (BC) patients. SP/NK1R signaling is strongly implicated in the pathogenesis of BC through affecting cell proliferation, migration, metastasis, angiogenesis, and resistance. Therefore, SP/NK1R signaling responses must be rigorously regulated; otherwise, they would contribute to a more aggressive BC phenotype. Recently, microRNAs (miRNAs) as a specific class of epigenetic regulators have been shown to regulate NK1R and thus, controlling SP/NK1R signaling responses in BC. This review summarizes the current knowledge of the role of SP/NK1R signaling and its therapeutic potentials in BC. We also provide an overview regarding the effects of miRNA-mediated NK1R regulatory mechanisms in controlling BC tumorigenesis to gain a clearer view and thus better management of cancer. 相似文献
104.
Azza A. Eltayeb Faisal-Alkhateeb Ahmad Douaa M. Sayed Amany M. Osama 《Pediatric cardiology》2014,35(6):965-974
Vascular endothelial dysfunction, accelerated thickening of arterial intima, and changes in ventricular functions contribute to increased cardiovascular morbidity in type 1 diabetes mellitus (T1DM). This study aimed to investigate the functional-structural changes in the arteries and myocardium together with affection of highly sensitive C-reactive protein (hsCRP), circulating endothelial cells (CECs), and vitamin C levels in children with T1DM. Also, to test the association with early atherosclerotic changes. The study included 30 children with a diagnosis of T1DM and 30 healthy subjects matched by sex, age, and body mass index. Serum lipids, HbA1c, hsCRP, vitamin C, and CECs were detected. Corrected QT interval (QTc), cardiac dimensions, and left ventricular (LV) functions were assessed using conventional echocardiography. Noninvasive ultrasound was used to measure brachial artery flow-mediated dilation (FMD) responses and carotid intima-media thickness (IMT). The QTc interval was significantly higher in the diabetic patients than in the control subjects (P < 0.001). The findings showed LV diastolic dysfunction as reflected by significantly lower early peak flow velocity, decreased E/A ratio, increased early filling deceleration time (DcT), and prolonged isovolumic relaxation time (IVRT) (P < 0.001 for each). The children with diabetes had a significantly lower FMD response, increased IMT, lower vitamin C level, higher hsCRP, and higher CEC compared with the control subjects (P < 0.001 for each). A positive correlation between CEC and HbA1c was found (P = 0.004). An alteration in myocardial function and endothelial dysfunction may begin early with the association of early atherosclerotic changes. These changes are accelerated when glycemic control is poor. The authors recommend early and close observation of children with diabetes for any alterations in cardiac and vascular endothelial function. Vitamin C supplementation may reduce the risk of complications. 相似文献
105.
Hosein Faezypour Aileen M. Davis Anthony M. Griffin Robert S. Bell 《Journal of surgical oncology》1996,61(1):34-37
Five patients with giant cell tumor of the proximal fibula were treated with intralesional excision of the lesion, preservation of the peroneal nerve, and reconstruction of the lateral collateral ligament. At minimum 24-month follow-up there have been no local recurrences. Four patients exhibit normal function of the peroneal nerve and one has grade 4 strength of the muscles innervated by this nerve. No patient demonstrated varus instability. Marginal excision with nerve preservation and reconstruction of the ligament is a worthwhile procedure for treatment of this relatively uncommon lesion. © 1996 Wiley-Liss, Inc. 相似文献
106.
Ahmed Eltarras Youssef Jalloul Ola Assaad Michael Bejjani Yara Yammine Nina Khatib Abdallah Rebeiz Mazen El Sayed Marwan Refaat 《老年心脏病学杂志》2021,18(6):416-425
BACKGROUNDIn-hospital cardiac arrest (IHCA) constitutes a significant cause of morbidity and mortality. As data is scarce in the Middle East and Lebanon, we devised this study to shed some light on it to better inform both hospitals and policymakers about the magnitude and quality of IHCA care in Lebanon.METHODSWe analyzed retrospective data from 680 IHCA events at the American University of Beirut Medical Center between July 1, 2016 and May 2, 2019. Sociodemographic variables included age and sex, in addition to the comorbidities listed in the Charlson comorbidity index. IHCA event variables were day, event location, time from activation to arrival, initial cardiac rhythm, and the total number of IHCA events. We also looked at the months and years. We considered the return of spontaneous circulation (ROSC) and survival to discharge (StD) to be our outcomes of interest.RESULTSThe incidence of IHCA was 6.58 per 1,000 hospital admissions (95% CI: 6.09−7.08). Non-shockable rhythms were 90.7% of IHCAs. Most IHCA cases occurred in the closed units (87.9%) (intensive care unit, respiratory care unit, neurology care unit, and cardiology care unit) and on weekdays (76.5%). ROSC followed more than half the IHCA events (56%). However, only 5.4% of IHCA events achieved StD. Both ROSC and StD were higher in cases with a shockable rhythm. Survival outcomes were not significantly different between day, evening, and nightshifts. ROSC was not significantly different between weekdays and weekends; however, StD was higher in events that happened during weekdays than weekends (6.7%vs. 1.9%, P = 0.002). CONCLUSIONSThe incidence of IHCA was high, and its outcomes were lower compared to other developed countries. Survival outcomes were better for patients who had a shockable rhythm and were similar between the time of day and days of the week. These findings may help inform hospitals and policymakers about the magnitude and quality of IHCA care in Lebanon.In-hospital cardiac arrest (IHCA) constitutes a significant cause of morbidity and mortality.[1] Based on the American Heart Association’s Get With The Guidelines-Resuscitation (GWTG-R) registry data from 2003 to 2007, the approximated incidence of IHCAs in the United States was 211,000 annually or roughly 6 to 7 cardiac arrests per 1,000 hospital admissions.[2,3] Data from 2008 to 2017 showed the incidence of IHCA increased to 292,000 annually or 9 to 10 IHCAs per 1,000 hospital admissions.[1,4] In contrast, data from the United Kingdom National Cardiac Arrest Audit showed an incidence of 1.6 IHCAs per 1,000 hospital admissions in the United Kingdom from 2011 to 2013.[1] Despite progress in resuscitation technology and care, survival outcomes following IHCA remain low at 15%−25% and vary radically between 0% and 42% worldwide.[5,6] Sandroni, et al.[5] showed that various patient and healthcare-related factors are associated with the survival outcomes of IHCA. The main patient-related factors are age, sex, initial cardiac rhythm, underlying medical condition, comorbidities, and the time of the IHCA event. In contrast, major healthcare-related factors are the protocols for IHCA care, duration and method of resuscitation, skills of healthcare professionals, time from code activation and the arrival of the code response team, and the location of the IHCA event.[5,7] The study by Chen, et al.[8] suggests that improving the quality of resuscitation care and minimizing other healthcare-related risk factors can markedly increase survival outcomes from IHCAs.[6,9]Consistent and updated estimates of the magnitude and outcomes of IHCA are fundamental for monitoring and improving the delivery and quality of IHCA care in any healthcare setting. In Lebanon, studies have shown low survival rates (5.5%) from out-of-hospital cardiac arrest.[10]The reported incidence of IHCA in the United Arab Emirates was 11.7 per 1,000 hospital admissions,[6] and in Saudi Arabia was 7.76 per 1,000 hospital admissions.[11] The reported survival to hospital discharge in the United States was only 10.4%,[12] and it was only 7.9% in the United Kingdom.[13] However, unlike European countries and the United States, the epidemiology of IHCA is unknown in Lebanon, suggesting the need for research in this area. Therefore, this study aimed to produce the first estimates of the incidence, characteristics, and outcomes of IHCA at a tertiary-care hospital in Lebanon. 相似文献
107.
Yassamine Ouerdane Mohamed Sayed Zaazouee Moaiad Eldin Ahmed Mohamed Mohammed Tarek Hasan Mohamed Hamdy Abdallah Magdy Ghoneim Mohamed Ibrahim Gbreel Ahmed Mohamed Ibrahim Khaled Mohamed Ragab Anas Zakarya Nourelden 《Indian journal of ophthalmology》2021,69(12):3421
Photorefractive keratectomy (PRK) is considered a safe approach laser procedure with a clinical significance in correcting myopia results. PRK requires removing the whole superficial epithelium. The integrity of the epithelial basement membrane and the deposition of abnormal extracellular matrix can put the cornea in a probable situation for corneal haze formation. Mitomycin C (MMC) is applied after excimer laser ablation as a primary modulator for wound healing, limiting corneal haze formation. We aim to summarize the outcomes of MMC application after laser ablation. We searched Scopus, PubMed, Cochrane CENTRAL, and Web of Science till December 2020 using relevant keywords. The data were extracted and pooled as mean difference (MD) or risk ratio (RR) with a 95% confidence interval (CI), using Review Manager software (version 5.4). Our analysis demonstrated a statistically significant result for MMC application over the control group in terms of corneal haze formation postoperatively (RR = 0.29, 95% CI: [0.19, 0.45], P < 0.00001). Regarding corrected distance visual acuity (CDVA), no significant difference was observed between the MMC group and the control group (MD = 0.02; 95% CI: [-0.04, 0.07]; P = 0.56). Regarding the uncorrected distance visual acuity (UDVA), the analysis favored the MMC application with (MD -0.03, 95% CI: [-0.06, -0.00]; P = 0.05). There was no statistically significant increase in complications with MMC. In conclusion, MMC application after PRK is associated with a lower incidence of corneal haze formation with no statistically significant side effects. The long term effect can show improvement regarding UDVA favoring MMC. However, there is no significant effect of MMCs application regarding CDVA, and SE. 相似文献
108.
Eissa Soleymani Sohrab Sayyadi Hossein Pazoki Mahdi Fakhar Elham Sadat Banimostafavi Mohsen Kolivand Lotfollah Davoodi Mostafa Soleymani 《Clinical Case Reports》2022,10(2)
Cystic echinococcosis is one of the most important zoonotic parasitic diseases caused by the tapeworm Echinococcus granulosus. To date, the genotype of multivesicular CE has not been identified. In this regard, the genotyping of multivesicular types of CE could help clinicians understand and manage the disease effectively. 相似文献
109.
Basant Mostafa Gabr Afaf Sayed Ahmed Zamzam Eman Ahmed Eisa Ghada Foad El-Baradey Maii Atef Shams Eldeen 《急性病杂志》2021,10(3):117-121,中插1
Objectives: To identify and test the antibiotic susceptibility of nosocomial coliform bacilli and investigate the presence of oqxA and oqxB genes among the multidrug-resistant (MDR) phenotypes. Methods: One hundred and twenty different healthcare-associated infection samples were collected. Coliform bacilli were isolated, identified by conventional methods, and then antibiotic susceptibility tests were done using the VITEK2 system and disk diffusion methods. OqxAB operon was identified using a conventional PCR-based technique. oqxA and oqxB genes were compared between MDR Klebsiella pneumonia (K. pneumonia) phenotypes and MDR Escherichia coli (E. coli) phenotypes. Besides, oqxAB operons were compared between phenotypes of K. pneumonia and E. coli isolates. Results: Seventy coliform bacilli were isolated with the predominance of K. pneumonia and E. coli. Besides, 82.1% of K. pneumonia strains and 53.3% of E. coli isolates were MDR phenotypes. Significant more oqxB genes alone were found in MDR E. coli than that in MDR K. pneumoniae phenotypes (χ2=10.160, P=0.003). OqxAB operon was significantly more in MDR phenotypes of E. coli than that in the susceptible phenotypes (P<0.001). There was significantly less of this operon in susceptible E. coli isolates than that in susceptible K. pneumoniae isolates (P<0.001). OqxAB positive isolates that were also resistant to fluoroquinolones, tetracycline, trimethoprim, and chloramphenicol, most probably suggested functional pumps. Conclusions: MDR coliform bacilli are strongly implicated in healthcare-associated infection. Attention should be paid to the presence of oqxAB pump, as an important mechanism in the development of resistance against many antimicrobials because it contributes to co-resistance with other categories; therefore, this pump could be a good target for efflux pump inhibitors. 相似文献
110.
Lubna I. Al Asoom Modhi S. Alajmi Reem R. Alsudairi Abeer A. AlShamlan Amal A. Almomaten Asma A. Alqarni Manal H. Alshammari Nazish Rafique Rabia Latif Ahmed A. Alsunni Dana A. Almohazey Hind S. Alsuwat Sayed Abdul Azeez Francis J. Borgio 《Saudi medical journal》2021,42(7):793
Objectives:To assess the sex hormone levels in young Saudi female migraineurs during a migraine attack and during pain-free periods and compare them with control subjects.Methods:A case-control study involving 14 Saudi female migraineurs and 21 control subjects was conducted between December 2019 and March 2020. Demographic and disease history data were collected through participant interviews. Blood samples were drawn during the migraine attack and pain-free periods.Results:Follicular (30.00±19.60; p<0.001) and luteal (39.79±11.45; p=0.037) estrogen levels were significantly higher in patients with non-menstrual related migraine (NMM), while luteal testosterone levels (1.10±0.31; p=0.023) were significantly higher in patients with menstrually related migraine (MM). Body mass index (BMI) was higher in patients with NMM (25.77±6.53; p=0.013), and it was found to be associated with follicular estrogen (p=0.016), progesterone (p=0.018), and pain intensity (p=0.042). Luteal estrogen level was significantly lower (13.96±7.88; p=0.036) in patients with luteal onset of attack.Conclusion:High estrogen levels were found to mediate NMM, their effect being more pronounced with increase in BMI; whereas low luteal estrogen levels mediated MM. Young females with MM might have high luteal testosterone levels, and a compensatory protective role could be surmised accordingly. 相似文献