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1.
Amare Kadam PS Ghule P Jose J Bamne M Kurkure P Banavali S Sarin R Advani S 《Cancer Genetics and Cytogenetics》2004,150(1):33-43
Although retinoblastoma (Rb) is initiated as a result of biallelic inactivation of the RB1 gene, additional genetic events (M3) in tumor cells are indicative of their role in the full transformation of retinal cells. We investigated the constitutional genetic instability by fragile site (FS) expression studies and checked its relationship with loci of tumor cytogenetics in a series of 36 retinoblastoma patients (34 nonfamilial and 2 familial cases). Tumor cytogenetics revealed -13/+13, del/t(13)(q14) (50%), +1/del/t(1p/q) (65%), +6/i(6p) (60%), and del(16)(q13)/(q22 approximately q23) (60%). Conventional cytogenetics in leukocytes revealed constitutional del(13q14) in five unilateral Rb (URB) and one trilateral Rb (TRB). Constitutional del(16)(q22) and t(6;12) were also identified in two cases. Constitutional FS analysis showed a significant increase in the cellular fragility, with high prevalence at 13q14, 3p14, 6p23, 16q22 approximately q23, and 13q22 loci in retinoblastoma patients (P<0.05). Patients with constitutional del(13)(q14) demonstrated higher fragility than those with normal constitution. A strong correlation between loci of constitutional FSs and loci of recurrent chromosomal abnormalities in tumors strengthen and support the proposal that FS loci present as inherent genomic instability in retinoblastoma. The chromosomal changes and resultant genetic mutations, along with RB1 mutation events, probably contribute synergistically to the development and progression of Rb malignancy. Implementation of fluorescence in situ hybridization to nonfamilial Rb on a large scale (113 cases) could detect constitutional RB1 deletion in 12.3% of cases, with equally higher incidence in URB (14.7%) and bilateral Rb (13.6%), demonstrating that the true prevalence of patients with predisposition to RB1 mutation in sporadic URB is definitely higher in our populations. Also, higher incidence of constitutional RB1 deletion mosaicism in unilateral than in bilateral Rb indicates that the constitutional genetic mosaicism in URB should be given serious consideration during genetic counseling. 相似文献
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S ummary . A patient with repeated episodes of sulphonamide-induced haemolytic anaemia is reported. The haemolytic episodes were associated with a high percentage of Heinz bodies which had the unique feature of being actively extruded from the erythrocytes. Detailed morphological and biochemical studies are outlined, but the basis for the tendency to form Heinz bodies remains unclear. It is suggested that the phenomenon of active extrusion may provide an alternative route, independent of the reticuloendothelial system, for the removal of Heinz bodies. The close resemblance between the active expulsion of the Heinz bodies and the physiological denucleation of the maturing erythroblast is noted and a similar mechanism postulated. 相似文献
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Michael Ahdoot Leanne Almario Hiwot Araya Jonas Busch Simon Conti Mark L. Gonzalgo 《World journal of urology》2014,32(6):1441-1446
Purpose
To compare oncologic outcomes between open radical cystectomy (ORC) and robotic-assisted radical cystectomy (RARC) using propensity score (PS) matching of preoperative variables.Methods
A group of 51 consecutive patients who underwent RARC between 2009 and 2012 were matched by propensity scoring with an equal number of patients who underwent ORC. Patient demographics, clinical staging, pathologic staging, pathologic grading, histology, positive margin status, lymph node yield, duration of hospital stay, and overall survival were examined.Results
PS-matched ORC and RARC cohorts demonstrated no significant differences with respect to preoperative variables, pathologic stage, grade, histology, metastasis at preoperative staging, and postoperative positive margin status. There were statistically significant differences in nodal status (66.7 % N0 for ORC vs. 80.4 % N0 for RARC, p = 0.039) and median lymph node yield (6 for ORC vs. 18 for RARC, p < 0.0001). No positive soft tissue margins were observed in the RARC group compared to 5.9 % in the ORC group (p = 0.332). There were no significant differences in mean duration of hospital stay or mean overall survival between ORC and RARC.Conclusion
ORC and RARC represent effective surgical approaches for the treatment of bladder cancer. Histopathologic outcomes for RARC compare favorably to ORC with respect to soft tissue margin rates and lymph node yield. These data suggest that RARC is an acceptable surgical approach for treatment of bladder cancer that can achieve outcomes that are equal or superior to those of ORC. 相似文献7.
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Fikadu Ambaw Yehualashet Eleni Tesfaye Tegegne Amare Demsie Ayele Wubet Worku Takele 《Primary Care Diabetes》2021,15(4):642-652
ObjectiveThis systematic review and meta-analysis is aimed at determining the pooled national percentage of diabetic self-care practice and its determinants among adult diabetic patients in Ethiopian.MethodsDifferent electronic databases including PubMed/Medline and search engines such as Google scholar were used to retrieve published studies. The Joanna Briggs Institute quality appraisal checklists were used to appraise the quality of studies. Data were extracted using excel spreadsheets and analyses were done by STATA 14. Heterogeneity among studies was diagnosed using the I2 test. The DerSimonian and Laird random-effects model was employed for substantial heterogeneity (I2 > 50%). The pooled estimate of diabetic self-care and odds ratio was reported based on the 95% CI.ResultsA total of 3861 studies were identified, of which only 19 studies have reached the final qualitative synthesis and quantitative analysis. Well over half of the Ethiopian diabetic patients have good self-care 54.04% (47.07–61.01, I2 = 97.3, P < 0.001). Subgroup analysis by region showed that the highest pooled estimate was observed in Southern Nations Nationalities and Peoples 81.96% (71.85–92.04), I2 = 89.1, p < 0.002), whereas the lowest was from the Harari region 44.53% (32.16–56.89%) I2 = 94%, p < 0.001). Being knowledgeable about diabetes Mellitus 2.69 (1.62, 4.46; I2 = 99%, p < 0.001), having good social support 2.25 (1.49–3.39; I2 = 99%, p = 0.00), owning private glucometer 3.04(1.64, 5.65; I2 = 97.4, P < 0.001), and being urban residents 3.26 (2.24, 4.74; I2 = 96.3%, P < 0.001) promote diabetic victims to apply self-care practice.ConclusionsDespite the life-threatening complications of diabetes Mellitus, the percentage of patients applying self-care has remained low in Ethiopia, depicting the high proportion of diabetic patients are prone to develop long and short-term sequelae of diabetes Mellitus. Therefore, improving the client’s awareness about the disease and counseling clients about the significance of social support are believed to be possible strategies to improve self-care practice and policymakers are strongly recommended to combat complications to attain sustainable development goal 3.4 Aims to reduce premature death.RegistrationThe protocol has been registered under the prospective Register of Systematic Review and Meta-analysis (PROSPERO) and received a unique registration number CRD42020151014. 相似文献
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Summary A 40 year old woman with Hodgkin's disease twice developed signs of encephalitis while being treated with prednisone and cyclophosphamide for 10 months. Since on both occasions herToxoplasma dye test titer was 1 : 8000 or higher, she was treated on suspicion of toxoplasmosis with sulfadiazine and pyrimethamine. Her tumor therapy was changed to bleomycin with lower doses of prednisone for 12 months. After death from central pontine myelinolysis,Toxoplasma and cytomegalovirus could be isolated, but no lesions attributable to these infectious agents were present. Maintenance of the patient's immune competence suggested an inquiry into the effects of the chemotherapeutic agents and of tumor infiltration for their respective interference with immunity. Using hamsters with chronic latent toxoplasmosis, it was found that both cortisone and cyclophosphamide caused recrudescence of chronic inapparent infection, that vinblastine and bleomycin interfered only slightly with the development of immunity, whereas an infiltrating lymphoma permitted immunity to develop normally. It is concluded that greater attention should be directed to the immunosuppressive effects of tumor treatment. By choice of an effective tumor therapy which is least immunosuppressive, and if necessary under cover of antimicrobial therapy, a patient with Hodgkin's disease can be aided in developing immunities which he may subsequently be able to maintain.
Dedicated to Dr.Edward H. Kass on the occasion of his 60th birthday. 相似文献
Immunkompetenz bei einem Patienten mit Morbus Hodgkin and rezidivierender Toxoplasmose
Zusammenfassung Eine 40jährige Frau mit Morbus Hodgkin entwickelte zweimal in zehn Monaten Symptome von Enzephalitis, während sie mit Prednison und Cyclophosphamid behandelt wurde. Da derToxoplasma-Antikörper-Farbtest beide Male eine Titer von 1 : 8000 oder höher aufwies, wurde die Frau wegen Verdacht einer Toxoplasmose mit Sulfadiazin und Pyrimethamin behandelt. Zusätzlich wurde die Behandlung des Morbus Hodgkin für die nächsten 12 Monate auf Bleomycin und kleine Dosen von Prednison umgestellt. Nachdem die Patientin infolge zentraler pontiner Myelinolyse starb, wurden Toxoplasmen und Cytomegalovirus isoliert, jedoch wurden keine Läsionen gefunden, die diesen Erregern zuzuordnen wären. Die Stabilität der Immunitätskompetenz der Patientin während des letzten Jahres veranlaßte eine Analyse der verschiedenen Therapeutika und der Tumorinfiltration auf den Aufbau und die Stabilität der Immunität. In einem Hamstermodell der chronischen latenten Toxoplasmose verursachten Cortison und Cyclophosphamid ein Rezidiv; aber Bleomycin und Vinblastin führten lediglich zu einer leichten Verzögerung der Immunitätsentwicklung, während das infiltrative Lymphom eine normale Immunitätsentwicklung zuließ. Aufgrund dieser Beobachtungen sollte auch den immunsuppressiven Effekten der Tumortherapeutika beim Menschen Beachtung geschenkt werden. Durch Wahl einer Tumorbehandlung, die die Infektionsimmunität am wenigsten beeinträchtigt, könnte man es einem Patienten trotz Morbus Hodgkin ermöglichen, gegebenenfalls unter Einwirkung von Antimikrobika Immunitäten aufzu bauen und diese auch später zu erhalten.
Dedicated to Dr.Edward H. Kass on the occasion of his 60th birthday. 相似文献
10.
Syed Khizer Hasan Nikhil V. Patkar Deepan Rajamanickam Anant Gokarn Antonio R. Lucena-Araujo Prashant Tembhare Bhausaheb Bagal Pratibha Kadam Amare Hasmukh Jain Sumeet Gujral Manju Sengar Papagudi Ganesan Subramanian Navin Khattry 《Hematological oncology》2020,38(5):808-816
The high expression of brain and acute leukemia, cytoplasmic (BAALC) and ETS-related gene (ERG) has been reported to influence the outcome in acute myeloid leukemia (AML), but due to limited prospective studies, their role as prognostic factors is unclear. At diagnosis, the prognostic value of BAALC and ERG expression with respect to other cytogenetic and molecular markers was analyzed in 149 AML patients. Patients were divided into quartiles which resulted in the formation of four groups (G1–G4) based on expression values of BAALC and ERG and clinical response defined across groups. Groups with similar survival probabilities were merged together and categorized subsequently as high versus low expressers. Patients with high BAALC and ERG expression had significantly lower overall survival (OS; BAALC: p = 0.001 at 5 years 29.4% vs. 69.8%; ERG: p < 0.0001 at 5 years 4% vs. 50.4%) and disease-free survival (BAALC: p = 0.001 at 5 years 19.5% vs. 69.8%; ERG: p < 0.0001 at 5 years 4.2% vs. 47%). Patients were further stratified combining BAALC and ERG expression in an integrative prognostic risk score (IPRS). After a median follow-up of 54 months (95% CI 45–63 months) among survivors, IPRS for high versus low expressers was a significant predictor for OS (BAALC + ERG: 4% vs. 71.6%, p < 0.0001) and DFS (BAALC + ERG: 4.5% vs. 74.1%, p < 0.0001). In a multivariate model, IPRS of BAALC + ERG expression retained prognostic significance for OS (hazard ratio [HR] 2.96, 95%CI 1.91–4.59, p < 0.001) and DFS (HR 3.61, 95%CI 2.26–5.76, p < 0.001). 相似文献