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101.
Neha Gupta Mariavittoria D'Acierno Enrica Zona Giovambattista Capasso Miriam Zacchia 《American journal of medical genetics. Part C, Seminars in medical genetics》2022,190(1):9-19
Bardet–Biedl syndrome (BBS) is a rare pleiotropic disorder known as a ciliopathy. Despite significant genetic heterogeneity, BBS1 and BBS10 are responsible for major diagnosis in western countries. It is well established that eight BBS proteins, namely BBS1, 2, 4, 5, 7, 8, 9, and 18, form the BBSome, a multiprotein complex serving as a regulator of ciliary membrane protein composition. Less information is available for BBS6, BBS10, and BBS12, three proteins showing sequence homology with the CCT/TRiC family of group II chaperonins. Even though their chaperonin function is debated, scientific evidence demonstrated that they are required for initial BBSome assembly in vitro. Recent studies suggest that genotype may partially predict clinical outcomes. Indeed, patients carrying truncating mutations in any gene show the most severe phenotype; moreover, mutations in chaperonin-like BBS proteins correlated with severe kidney impairment. This study is a critical review of the literature on genetics, expression level, cellular localization and function of BBS proteins, focusing primarily on the chaperonin-like BBS proteins, and aiming to provide some clues to understand the pathomechanisms of disease in this setting. 相似文献
102.
Meighan Palazzo Gunjan L. Shah Olivia Copelan Kenneth Seier Sean M. Devlin Molly Maloy Sheila Kenny Hani Hassoun Neha S. Korde Nikoletta Lendvai Alexander M. Lesokhin Sham Mailankody David J. Chung Guenther Koehne C. Ola Landgren Heather Landau Sergio A. Giralt Miguel-Angel Perales 《Biology of blood and marrow transplantation》2018,24(4):871-876
Guidelines recommend vaccination starting 12 months after autologous hematopoietic stem cell transplant (aHCT), but there is varying practice for patients on maintenance therapy, with some centers not immunizing at all. Because of decreased vaccine rates among the general population causing loss of herd immunity, we aimed to establish the safety and efficacy of revaccinating multiple myeloma patients on lenalidomide maintenance (LM). Of the 122 patients who were vaccinated after aHCT between 2010 and 2014 at Memorial Sloan Kettering Cancer Center, 91 (75%) were on LM. Vaccine responses were defined by increases between pre- and postvaccination titers. Reponses varied by vaccine type with 76% responding to pertussis, 70% diphtheria, 60% tetanus, 71% Haemophilus influenzae, and 58% pneumococcal. All patients retained minimal levels of polio immunity, but 27% responded with increased titers. Fewer patients received hepatitis A and B, but of those who did, 30% responded to hepatitis A and 40% to hepatitis B. No differences were seen in rates of response for those on LM at time of vaccination compared with those who were not. There were no vaccine-related adverse effects. Reimmunization with inactivated vaccines in patients on LM is therefore both safe and effective, offering this population immunity to vaccine-preventable diseases. 相似文献
103.
104.
Hypertension and its severity in children with steroid sensitive nephrotic syndrome during remission
Swasti Keshri Shobha Sharma Neha Agrawal Sandeep Bansal B. P. Guilliani Kailash Chandra Aggrawal 《Clinical and experimental nephrology》2018,22(5):1157-1162
Background and objective
Hypertension is not a typical feature of steroid sensitive nephrotic syndrome (SSNS) and the presence of persistent hypertension is suggestive of significant renal lesion. There is paucity of data regarding occurrence and severity of hypertension in SSNS in pediatric population during remission and was the main objective of this study. In addition, correlation with factors like family history, BMI, and lipid profile was studied.Methods
Cross-sectional study conducted at tertiary care center in India including 81 children of infrequent relapsing SSNS between 1 and 10 years in remission and was off steroids. Grading and severity of hypertension were assessed. Statistical analysis was done using SPSS version 21.0.Results
Median age of presentation was 5 years, with male:female ratio of 1.3:1. Out of 81 infrequent relapsing SSNS children, 23.45% (19) had hypertension. Among those children with hypertension (n?=?19), 73.68% (14) had positive family history compared to 32.25% (20) in those without hypertension. Positive correlation was found between BP and serum cholesterol and LDL. Of the hypertensive patients, 1 (5.26%) had fundus changes, 2 (10.52%) had features of left ventricular hypertrophy, and 13 (68.42%) had non-nephrotic range proteinuria.Conclusion
There is high incidence of hypertension in NS children during remission. Though significant positive correlation was found with positive family history of hypertension and deranged lipid profile highlighting possibility of essential hypertension in them, there is need for close active monitoring and management of hypertension in them as untreated cases may have significant target organ damage.105.
In the field of nanotechnology, carbon nanotube (CNT) is gaining importance for the delivery of therapeutic agents and diagnosis of diseases. CNT is emerging as an efficient nanocarrier system with cylindrical nanostructure. Due to its nanoscale dimensions, CNTs have a high cell-penetration quality that allows its use in site-specific targeting. Another aspect of the utilization of CNT lies in its hollow structure through which an active moiety can be delivered in a controlled manner via CNTs' nano channels. Despite these positive aspects of CNT, scientists are still working to improve its biocompatibility and solubility and eliminating toxicity in vivo, which are creating problems with the use of CNTs. Therefore, functionalization becomes an important aspect to be studied because it decreases the toxicity of CNTs and make them nonimmunogenic. In this review, different functionalization techniques of CNTs and their biomedical applications-in particular for cancer therapy to date-are reviewed in detail to present the potential of this nanovector. 相似文献
106.
Singh N Kalluri H Herwadkar A Badkar A Banga AK 《Critical reviews in therapeutic drug carrier systems》2012,29(4):265-298
Peptides and proteins have been investigated as promising therapeutic agents over the past decade. These macromolecules are conventionally administered by the parenteral route because oral delivery is associated with degradation in the gastrointestinal tract. Transdermal delivery presents a promising alternative route of drug delivery, avoiding pain associated with parenteral administration and degradation issues associated with oral delivery. However, the barrier properties of skin limit delivery to only small, moderately lipophilic molecules. Hence, hydrophilic macromolecules like peptides and proteins cannot passively permeate across skin. Active physical enhancement approaches such as iontophoresis electroporation, microneedles treatment, and sonophoresis have been developed to assist transdermal delivery of peptides and proteins. This review describes active physical transdermal enhancement approaches for transdermal delivery of peptides and proteins. The mechanisms associated with each technique and important parameters governing transdermal delivery of peptides and proteins are discussed in detail. Combinations of enhancement techniques for synergistic enhancement in protein and peptide delivery are also discussed. 相似文献
107.
108.
Yu-Ning Wong Stephen J. Freedland Brian Egleston Neha Vapiwala Robert Uzzo Katrina Armstrong 《European urology》2009,56(4):609-616
Background
Primary androgen deprivation therapy (PADT) is frequently used as a sole modality of treatment in men with localized prostate cancer, despite a lack of clinical trial data supporting its use.Objective
To measure the impact of treatment with PADT compared to observation on overall survival in men with organ-confined prostate cancer.Design, setting, and participants
The design was for an observational cohort from Surveillance, Epidemiology, and End Results (SEER) Medicare data. The cohort consisted of 16 535 men aged 65–80 yr at diagnosis with organ-confined well-differentiated or moderately differentiated prostate cancer who survived >1 yr past diagnosis and did not undergo treatment with prostatectomy or radiation therapy within 6 mo of diagnosis. They were diagnosed between 1991 and 1999 and followed until death or until the end of the study period (December 31, 2002).Intervention
Study subjects were selected to receive PADT alone if they received luteinizing hormone-releasing hormone agonists or bilateral orchiectomy in the first 6 mo after diagnosis, and they were selected to be observed if they did not have claims for PADT during the same interval.Measurements
Overall survival.Results and limitations
After adjusting for potential confounders (ie, tumor characteristics, comorbidities, and demographics), patients who received ADT had a worse overall survival rate than patients who were observed (hazard ratio: 1.20; 95% confidence interval: 1.13–1.27).In observational studies there may be unmeasured differences between the treated and untreated groups. The SEER database does not provide information on prostate-specific antigen levels.Conclusions
This large, population-based study suggests that PADT did not improve survival in men with localized prostate cancer, but it suggests that PADT may instead result in worse outcomes compared with observation. Patients and physicians should be cognizant of the potential long-term side effects of ADT in a patient population for which expectant observation is an acceptable treatment strategy. 相似文献109.
110.
Ravindra H. Mahajan Rakesh B. Dalal Ajay Sahu Dr Neha Dalal Dr R. Banzal Sanjay Anand 《The Foot》2009,19(1):62-64
The authors present a case of secondary chondrosarcomatous transformation in enchondroma in toe. The authors have discussed the available literature to throw light on differentiation of benign and malignant form. 相似文献