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31.
Saheki T Kobayashi K Iijima M Horiuchi M Begum L Jalil MA Li MX Lu YB Ushikai M Tabata A Moriyama M Hsiao KJ Yang Y 《Molecular genetics and metabolism》2004,81(Z1):S20-S26
Citrin is a mitochondrial aspartate glutamate carrier primarily expressed in the liver, heart, and kidney. We found that adult-onset type II citrullinemia is caused by mutations in the SLC25A13 gene that encodes for citrin. In this report, we describe the frequency of SLC25A13 mutations, the roles of citrin as a member of the urea cycle and as a member of the malate-aspartate shuttle, the relationship between its functions and symptoms of citrin deficiency, and therapeutic issues. 相似文献
32.
Physostigmine is an anti-cholinesterase used for the pretreatment of a poisoning caused by highly toxic organophosphorus neurotoxins. The aim of this study is to design a polymeric microparticle system for sustained release of physostigmine. In this paper, we have attempted to encapsulate physostigmine in microparticles made from poly(D,L-lactide-co-glycolide) (PLGA) with various contents of glycolide and poly(D,L-lactide) (PLA) using spray-drying and single emulsion techniques. It was found that during the single emulsion process, most of the physostigmine molecules were lost in the external aqueous phase. However, more than 90% encapsulation efficiency of physostigmine was obtained using the spray-drying technique. SEM micrographs revealed that spherical microparticles containing physostigmine with a smooth surface were yielded with PLA, PLGA 50:50, RG 502 (PLGA 50:50 with a lower molecular weight) and PLGA 65:35 but PLGA 85:15, PLGA 75:25 and PLGA 50:50 with a high concentration produced microparticles with irregular shapes. An increased inlet temperature yielded a higher physostigmine release rate from the PLA microparticles. Physostigmine release from the microparticles showed a biphasic pattern, characterized by an initial burst release followed by a sustained release for PLGA 65:35, PLGA 50:50 and RG 502 or a non-detectable release for PLGA 85:15, PLGA 75:25 and PLA. A sustained-release of physostigmine with a low initial burst over 1 week was achieved from RG 502 microparticles, which would be used as an injectable dosage form in our further animal studies. 相似文献
33.
34.
A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis. 总被引:1,自引:0,他引:1
Richard Kellermayer László Halvax Márta Czakó Mohammad Shahid Varinderpal S Dhillon Syed Akhtar Husain Norbert Süle Eva G?m?ri Mariann Mammel Gy?rgy Kosztolányi 《Diagnostic molecular pathology》2005,14(3):159-163
Pure gonadal dysgenesis or Swyer syndrome is a sex-reversal disorder resulting from embryonic testicular regression sequences especially during the first few weeks of fetal life and is induced by mutations in the SRY gene. In the present report, we describe a nonmosaic XY sex-reversed female with pure gonadal dysgenesis. Molecular analysis using sequential PCR to detect Y chromosomal microdeletions showed the presence of SRY, ZFY and AZFa, b and c regions. Automated sequencing of the SRY region revealed a new mutation (deletion of A (adenine) in codon 82 at position +244), leading to a frame shift mutation within the helix I of the HMG-box domain. This mutation generates a truncated protein and is very likely to produce an impairment of SRY DNA binding activity. The present findings further support the functional importance of the putative DNA binding activity of the SRY HMG-box domain. 相似文献
35.
Umair Shabbir Momna Rubab Eric Banan-Mwine Daliri Ramachandran Chelliah Ahsan Javed Deog-Hwan Oh 《Nutrients》2021,13(1)
Polyphenols (PPs) are the naturally occurring bioactive components in fruits and vegetables, and they are the most abundant antioxidant in the human diet. Studies are suggesting that ingestion of PPs might be helpful to ameliorate metabolic syndromes that may contribute in the prevention of several chronic disorders like diabetes, obesity, hypertension, and colon cancer. PPs have structural diversity which impacts their bioavailability as they accumulate in the large intestine and are extensively metabolized through gut microbiota (GM). Intestinal microbiota transforms PPs into their metabolites to make them bioactive. Interestingly, not only GM act on PPs to metabolize them but PPs also modulate the composition of GM. Thus, change in GM from pathogenic to beneficial ones may be helpful to ameliorate gut health and associated diseases. However, to overcome the low bioavailability of PPs, various approaches have been developed to improve their solubility and transportation through the gut. In this review, we present evidence supporting the structural changes that occur after metabolic reactions in PPs (curcumin, quercetin, and catechins) and their effect on GM composition that leads to improving overall gut health and helping to ameliorate metabolic disorders. 相似文献
36.
Munaza Fatima Santosh Kumar Mudassar Hussain Naveed Masood Memon Anum Vighio Muhammad Asif Syed Ambreen Chaudhry Zakir Hussain Zeeshan Iqbal Baig Mirza Amir Baig Rana Jawad Asghar Aamer Ikram Yousef Khader 《JMIR Public Health and Surveillance》2021,7(5)
BackgroundHyderabad, Pakistan, was the first city to witness an outbreak of extensively drug resistant (XDR) typhoid fever. The outbreak strain is resistant to ampicillin, chloramphenicol, trimethoprim-sulfamethoxazole, fluoroquinolones, and third-generation cephalosporin, thus greatly limiting treatment options. However, despite over 5000 documented cases, information on mortality and morbidity has been limited.ObjectiveTo address the existing knowledge gap, this study aimed to assess the morbidity and mortality associated with XDR and non-XDR Salmonella serovar Typhi infections in Pakistan.MethodsWe reviewed the medical records of culture-confirmed typhoid cases in 5 hospitals in Hyderabad from October 1, 2016, to September 30, 2018. We recorded data on age, gender, onset of fever, physical examination, serological and microbiological test results, treatment before and during hospitalization, duration of hospitalization, complications, and deaths.ResultsA total of 1452 culture-confirmed typhoid cases, including 947 (66%) XDR typhoid cases and 505 (34%) non-XDR typhoid cases, were identified. Overall, ≥1 complications were reported in 360 (38%) patients with XDR typhoid and 89 (18%) patients with non-XDR typhoid (P<.001). Ileal perforation was the most commonly reported complication in both patients with XDR typhoid (n=210, 23%) and patients with non-XDR typhoid (n=71, 14%) (P<.001). Overall, mortality was documented among 17 (1.8%) patients with XDR S Typhi infections and 3 (0.6%) patients with non-XDR S Typhi infections (P=.06).ConclusionsAs this first XDR typhoid outbreak continues to spread, the increased duration of illness before hospitalization and increased rate of complications have important implications for clinical care and medical costs and heighten the importance of prevention and control measures. 相似文献
37.
Rana Roshane-Shahid Nazim Syed M. Ather M. Hammad 《International urology and nephrology》2021,53(1):21-26
International Urology and Nephrology - To evaluate the acute renal colic score (ARC) in predicting the need of emergency intervention (EI) in patients with ureteric colic secondary to a ureteral... 相似文献
38.
Monaghan Thomas F. Miller Connelly D. Agudelo Christina W. Rahman Syed N. Everaert Karel Birder Lori A. Wein Alan J. Weiss Jeffrey P. Lazar Jason M. 《International urology and nephrology》2021,53(1):35-39
International Urology and Nephrology - We aimed to determine the potential relationship between atherosclerotic cardiovascular disease (ASCVD) score, which equates to 10-year risk of... 相似文献
39.
Kevin A. Sonn Evan R. Deckard Abdul R. Aasar Lily K. Wolf R. Michael Meneghini 《The Journal of arthroplasty》2021,36(6):2116-2120
BackgroundDiagnostic injections are commonly utilized in the workup of painful total knee arthroplasties (TKA), particularly when the diagnosis remains unclear. However, current literature provides limited evidence regarding the utility and prognostic capability of anesthetic injections in this scenario. This study sought to establish the role of diagnostic injections in predicting successful revision TKA.MethodsA retrospective review was conducted on 144 consecutive aseptic revision TKAs receiving diagnostic anesthetic injections. Instability (57.6%) and aseptic loosening (33.3%) comprised most revision etiologies. Patient-reported percentage pain relief after the injection was statistically correlated with KOOS JR, Knee Society Score, UCLA Activity Level, and satisfaction scores.ResultsAbout 74.3% (107/144) of revision TKAs reported >50% pain relief after injection. There were no differences in pain relief based on revision indication (P = .841). Improvement from preoperative activity level was greater in the >50% pain relief group (P = .024). Four-month patient satisfaction did not differ between patients who reported >50% and ≤50% pain relief (67% vs. 66%, P = .130). About 64% of patients who reported >50% pain relief were satisfied at minimum 1-year follow-up, compared with only 47% of those who reported ≤50% pain relief after diagnostic injection (P < .001).ConclusionStudy results show that patients reporting >50% pain relief after diagnostic injection have improvements in activity level and maintain greater satisfaction at minimum 1-year than those reporting ≤50% pain relief. Expectations for improvement after revision TKA should be tempered if diagnostic anesthetic injection yields minimal subjective pain relief. 相似文献
40.