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  • 1
    Online Resource
    Online Resource
    First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous 〈b〉〈i〉CANT1〈/i〉〈/b〉 Mutations
    S. Karger AG ; 2021
    In:  Molecular Syndromology Vol. 12, No. 5 ( 2021), p. 279-288
    Details
    In: Molecular Syndromology, S. Karger AG, Vol. 12, No. 5 ( 2021), p. 279-288
    Abstract: Desbuquois dysplasia type 1 (DBQD1) is a very rare skeletal dysplasia characterized by growth retardation, short stature, distinct hand features, and a characteristic radiological monkey wrench appearance at the proximal femur. We report on 2unrelated Egyptian patients having the characteristic features of DBQD1 with different expressivity. Patient 1 presented at the age of 45 days with respiratory distress, short limbs, faltering growth, and distinctive facies while patient 2 presented at 5 years of age with short stature and hypospadias. The 2 patients shared radiological features suggestive of DBQD1. Whole-exome sequencing revealed a homozygous frameshift mutation in the 〈 i 〉 CANT1 〈 /i 〉 gene (NM_001159772.1:c.277_278delCT; p.Leu93ValfsTer89) in patient 1 and a homozygous missense mutation (NM_138793.4:c.898C & #x3e;T; p.Arg300Cys) in patient 2. Phenotypic variability and variable expressivity of DBQD was evident in our patients. Hypoplastic scrotum and hypospadias were additional unreported associated findings, thus expanding the phenotypic spectrum of the disorder. We reviewed the main features of skeletal dysplasias exhibiting similar radiological manifestations for differential diagnosis. We suggest that the variable severity in both patients could be due to the nature of the 〈 i 〉 CANT1 〈 /i 〉 gene mutations which necessitates the molecular study of more cases for phenotype-genotype correlations.
    Type of Medium: Online Resource
    ISSN: 1661-8769 , 1661-8777
    URL: Article
    DOI: 10.1159/000516607
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2021
    detail.hit.zdb_id: 2546218-0
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  • 2
    Online Resource
    Online Resource
    Prevalence and Timing of Tracheostomy and Its Impact on Clinical Outcomes in COVID-19 Pneumonia Patients in Dubai Hospital
    S. Karger AG ; 2021
    In:  Dubai Medical Journal Vol. 4, No. 2 ( 2021-4-14), p. 151-155
    Details
    In: Dubai Medical Journal, S. Karger AG, Vol. 4, No. 2 ( 2021-4-14), p. 151-155
    Abstract: 〈 b 〉 〈 i 〉 Introduction: 〈 /i 〉 〈 /b 〉 Coronavirus has caused more than a million deaths as of October 2020. Hospitals consider tracheostomy after the patient is virus negative, usually after 3 weeks. Prevalence and timing of tracheostomy and its impact on survival among COVID patients are unknown. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 A retrospective, single-center study of all patients with COVID-19 ARDS who underwent tracheostomy was conducted. Patients with age & #x3c;18 and patients treated with ECMO were excluded. Duration of ventilation before tracheostomy was recorded. Clinical variables, outcome variables, and confounding variables were recorded and compared between patients with tracheostomy and without tracheostomy. The aim was to determine prevalence and timing of tracheostomy and its impact on clinical outcomes. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 We found that tracheostomies were performed only in 21 out of 196 patients (10.8%). Tracheostomies were performed after 3 weeks on average (22.1 ± 7.5 days). Survival was significantly higher in patients who underwent tracheostomy (85.7 vs. 42.5%, 〈 i 〉 p 〈 /i 〉 = 0.001). LOSICU was longer for tracheostomy patients than patients without tracheostomy (median [IQR]: 35 [23–47] vs. 15 [9–21], 〈 i 〉 p 〈 /i 〉 = 0.001). Patients who underwent tracheostomy had a higher proportion of treatment with continuous renal replacement therapy (CRRT) (52 vs. 30%, 〈 i 〉 p 〈 /i 〉 = 0.04), more COVID-19 swab testing (6.5 [4.5–8.5] vs. 5 [3–7] , 〈 i 〉 p 〈 /i 〉 = 0.002), more days on mechanical ventilation (34.5 [24–45] vs. 11 [5.5–16.5] , 〈 i 〉 p 〈 /i 〉 = 0.001), and more length of stay in the hospital (54 [38–70] vs. 20 [10.5–29.5] , 〈 i 〉 p 〈 /i 〉 = 0.001). All other factors were not statistically different between the 2 groups. Approximately 29% of patients had possible false-negative testing as their swab became positive after being negative. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 Tracheostomy was performed only in 10% of our patients with COVID-19 ARDS. Time to tracheostomy was after 3 weeks on average. Survival was better in patients with tracheostomy, but tracheostomized patients stayed longer in the ICU and hospital and utilized more days of mechanical ventilation and CRRT.
    Type of Medium: Online Resource
    ISSN: 2571-726X
    URL: Article
    DOI: 10.1159/000515209
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2021
    detail.hit.zdb_id: 2938789-9
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  • 3
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    Online Resource
    Prognostic Indicators and Treatment Outcome in 94 Cases of Fibrolamellar Hepatocellular Carcinoma
    S. Karger AG ; 2013
    In:  Oncology Vol. 85, No. 4 ( 2013), p. 197-203
    Details
    In: Oncology, S. Karger AG, Vol. 85, No. 4 ( 2013), p. 197-203
    Abstract: 〈 b 〉 〈 i 〉 Objective: 〈 /i 〉 〈 /b 〉 Fibrolamellar hepatocellular carcinoma (FLHCC) is a rare variant of HCC. We report an analysis of the clinicopathologic features, treatment outcomes, and prognostic indicators of 94 cases. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 We retrospectively collected clinicopathologic and treatment outcome data from 94 FLHCC patients (48 males and 46 females). Median overall survival (OS) and recurrence-free survival (RFS) were calculated using Kaplan-Meier curves, and survival rates were compared by the log-rank test. The Cox proportional hazard model was used for univariate and multivariate estimation of hazard risk ratios and 95% confidence intervals (CI) for factors that correlated with survival and disease recurrence after resection. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 Median age was 23 years (14-75); median OS was 57.2 months (95% CI, 36.4-77.9), and median RFS was 13.9 months (95% CI, 8.8-18.9). White race, female gender, early tumor stage, and tumor resection including metastasectomy were positively associated with longer OS, while female gender was the only significant positive predictor of longer RFS. Finally, the 5-fluorouracil-interferon combination was the most frequently used systemic therapy. 〈 b 〉 〈 i 〉 Conclusions: 〈 /i 〉 〈 /b 〉 Our analyses indicate that surgical approaches including metastasectomy as the first-line treatment in FLHCC correlated with better outcome. Multimodality approaches, including neoadjuvant and adjuvant therapies, prolonged patient survival.
    Type of Medium: Online Resource
    ISSN: 0030-2414 , 1423-0232
    URL: Article
    DOI: 10.1159/000354698
    RVK:
    XH 3305
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2013
    detail.hit.zdb_id: 1483096-6
    detail.hit.zdb_id: 250101-6
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  • 4
    Online Resource
    Online Resource
    Impact of Integrating Insulin-Like Growth Factor 1 Levels into Model for End-Stage Liver Disease Score for Survival Prediction in Hepatocellular Carcinoma Patients
    S. Karger AG ; 2020
    In:  Oncology Vol. 98, No. 12 ( 2020), p. 836-846
    Details
    In: Oncology, S. Karger AG, Vol. 98, No. 12 ( 2020), p. 836-846
    Abstract: 〈 b 〉 〈 i 〉 Background: 〈 /i 〉 〈 /b 〉 Liver reserve affects survival in hepatocellular carcinoma (HCC). Model for End-Stage Liver Disease (MELD) score is used to predict overall survival (OS) and to prioritize HCC patients on the transplantation waiting list, but more accurate models are needed. We hypothesized that integrating insulin-like growth factor 1 (IGF-1) levels into MELD score (MELD-IGF-1) improves OS prediction as compared to MELD. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 We measured plasma IGF-1 levels in training ( 〈 i 〉 n 〈 /i 〉 = 310) and validation ( 〈 i 〉 n 〈 /i 〉 = 155) HCC cohorts and created MELD-IGF-1 score. Cox models were used to determine the association of MELD and MELD-IGF-1 with OS. Harrell’s c-index was used to compare the predictive capacity. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 IGF-1 was significantly associated with OS in both cohorts. Patients with an IGF-1 level of ≤26 ng/mL in the training cohort and in the validation cohorts had significantly higher hazard ratios than patients with the same MELD but IGF-1 & #x3e;26 ng/mL. In both cohorts, MELD-IGF-1 scores had higher c-indices (0.60 and 0.66) than MELD scores (0.58 and 0.60) ( 〈 i 〉 p 〈 /i 〉 & #x3c; 0.001 in both cohorts). Overall, 26% of training and 52.9% of validation cohort patients were reclassified into different risk groups by MELD-IGF-1 ( 〈 i 〉 p 〈 /i 〉 & #x3c; 0.001). 〈 b 〉 〈 i 〉 Conclusions: 〈 /i 〉 〈 /b 〉 After independent validation, the MELD-IGF-1 could be used to risk-stratify patients in clinical trials and for priority assignment for patients on liver transplantation waiting list.
    Type of Medium: Online Resource
    ISSN: 0030-2414 , 1423-0232
    URL: Article
    DOI: 10.1159/000502482
    RVK:
    XH 3305
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2020
    detail.hit.zdb_id: 1483096-6
    detail.hit.zdb_id: 250101-6
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  • 5
    Online Resource
    Online Resource
    Clinical and Prognostic Biomarker Value of Blood Circulating Inflammatory Cytokines in Hepatocellular Carcinoma
    S. Karger AG ; 2023
    In:  Oncology
    Details
    In: Oncology, S. Karger AG
    Abstract: Circulating inflammatory cytokines play critical roles in tumor-associated inflammation and immune responses. Recent data has suggested that several interleukins (ILs) mediate carcinogenesis in hepatocellular carcinoma (HCC). However, the predictive and prognostic value of circulating ILs has yet to be validated. Our study aimed to evaluate the association of the serum ILs with overall survival (OS) and clinicopathologic features in a large cohort of HCC patients. We prospectively collected data, and serum samples from 767 HCC patients treated at The University of Texas MD Anderson Cancer Center between 2001 and 2014, with a median follow-up of 67.4 months (95% CI: 52.5, 83.3). Biomarker association with overall survival (OS) was evaluated by the Log-rank method. The median OS in this cohort was 14.2 months (95% confidence interval [CI]: 12, 16.1 months). Clinicopathologic features were more advanced, and OS was significantly inferior in patients with high circulating levels of IL1-R1, IL-6, IL-8, IL-10, IL-15, IL-16, and IL-18. In conclusion, our study shows that several serum IL levels are valid prognostic biomarker candidates and potential targets for therapy in HCC.
    Type of Medium: Online Resource
    ISSN: 0030-2414 , 1423-0232
    URL: Article
    DOI: 10.1159/000531870
    RVK:
    XH 3305
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2023
    detail.hit.zdb_id: 1483096-6
    detail.hit.zdb_id: 250101-6
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  • 6
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    Online Resource
    Insomnia Related to Dysthymia: Polysomnographic and Psychometric Comparison with Normal Controls and Acute Therapeutic Trials with Trazodone
    S. Karger AG ; 2001
    In:  Neuropsychobiology Vol. 44, No. 3 ( 2001), p. 139-149
    Details
    In: Neuropsychobiology, S. Karger AG, Vol. 44, No. 3 ( 2001), p. 139-149
    Abstract: Utilizing polysomnography (PSG) and psychometry, objective and subjective sleep and awakening quality was investigated in 11 patients (mean age 50 ± 14) with nonorganic insomnia (F 51.0) related to dysthymia (F 34.1) as compared with 11 age- and sex-matched normal controls. Patients demonstrated decreased sleep efficiency and sleep stage S2 as well as increased sleep latency to S1, S2 and S3, wakefulness within the total sleep period, number of awakenings, S1 and REM sleep. There was no intergroup difference in REM latency. Subjective sleep quality and the total score of the Self-Assessment Scale for Sleep and Awakening Quality (SSA) were deteriorated as were evening and morning well-being, mood, affectivity and drowsiness. Noopsychic measures showed deteriorated numerical memory, fine motor activity and reaction time variability. In a placebo-controlled crossover design study, the acute effects of 100 mg trazodone 〈 sup 〉 1 〈 /sup 〉 , a serotonin reuptake inhibitor with a sedative action due to 5HT 〈 sub 〉 2 〈 /sub 〉 and α 〈 sub 〉 1 〈 /sub 〉 receptor blockade, were investigated in the patients. As compared with placebo, trazodone induced an increase in slow-wave sleep (S3 + 4), a lengthening of REM latency, a decrease in REM sleep and a normalization of the periodic leg movement (PLM) index. In the morning, there was a minimal increase in somatic complaints and a decrease in critical flicker frequency and systolic blood pressure. In conclusion, our study demonstrated that dysthymia induced significant changes in objective and subjective sleep and awakening quality, which were counteracted by 100 mg trazodone, thus suggesting a key-lock principle in the treatment of nonorganic insomnia related to dysthymia with this drug.
    Type of Medium: Online Resource
    ISSN: 0302-282X , 1423-0224
    URL: Article
    DOI: 10.1159/000054934
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2001
    detail.hit.zdb_id: 1483094-2
    SSG: 5,2
    SSG: 15,3
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  • 7
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    I-CLIP: Improved Stratification of Advanced Hepatocellular Carcinoma Patients by Integrating Plasma IGF-1 into CLIP Score
    S. Karger AG ; 2011
    In:  Oncology Vol. 80, No. 5-6 ( 2011), p. 373-381
    Details
    In: Oncology, S. Karger AG, Vol. 80, No. 5-6 ( 2011), p. 373-381
    Abstract: 〈 i 〉 Objective: 〈 /i 〉 Improving the prognostic stratification of unresectable hepatocellular carcinoma (HCC) patients is critically needed. Since patients’ survival is closely linked to the severity of the underlying liver disease, and insulin-like growth factor-1 (IGF-1) is produced predominantly in the liver, we hypothesized that IGF-1 may correlate with patients’ survival and hence improve the prognostic ability of the Cancer of the Liver Italian Program (CLIP) score. 〈 i 〉 Methods: 〈 /i 〉 Baseline plasma IGF-1 and clinicopathologic parameters were available from 288 patients. Multivariate Cox regression models, Kaplan-Meier curves, and the log-rank test were applied. Recursive partitioning was used to determine the optimal cut point for IGF-1 using training/validation samples. Prognostic ability of the I-CLIP (I = IGF) was compared to CLIP using C-index. 〈 i 〉 Results: 〈 /i 〉 IGF-1 significantly correlated with the clinicopathologic features. With an optimal IGF-1 cut point of 26 ng/ml, the overall survival of patients with IGF-1 〉 26 was 17.7 months (95% CI 13.6–22.8), and with IGF-1 ≤26 was 5.8 months (95% CI 4.0–12.5), p 〈 0.0001. The concordance probabilities for CLIP and I-CLIP were 0.7037 and 0.7096, respectively (p 〈 0.0001). 〈 i 〉 Conclusions: 〈 /i 〉 Our preliminary results indicate that I-CLIP significantly improved prognostic stratification of patients with advanced HCC. However, independent validation of our study is warranted.
    Type of Medium: Online Resource
    ISSN: 0030-2414 , 1423-0232
    URL: Article
    DOI: 10.1159/000329040
    RVK:
    XH 3305
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2011
    detail.hit.zdb_id: 1483096-6
    detail.hit.zdb_id: 250101-6
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  • 8
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    Reassessing Hepatocellular Carcinoma Staging in a Changing Patient Population
    S. Karger AG ; 2014
    In:  Oncology Vol. 86, No. 2 ( 2014), p. 63-71
    Details
    In: Oncology, S. Karger AG, Vol. 86, No. 2 ( 2014), p. 63-71
    Abstract: 〈 b 〉 〈 i 〉 Objective: 〈 /i 〉 〈 /b 〉 Hepatocellular carcinoma (HCC) staging systems were developed using data predominantly from patients who had hepatitis and cirrhosis. Given the recent change in prevalence of viral hepatitis and cirrhosis at oncology centers, which has altered the natural history of HCC, we aimed at comparing the accuracy of HCC staging systems in patients with or without hepatitis and cirrhosis. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 A total of 438 patients were enrolled. Baseline clinicopathologic parameters, Barcelona Clinic Liver Cancer stage, Cancer of the Liver Italian Program score, TNM (6th edition) stage, Okuda stage, and Chinese University Prognostic Index score were prospectively obtained for all patients, and retrospectively analyzed. Kaplan-Meier analysis was used to determine overall survival (OS), Cox regression analyses were performed, and Harrell's Correspondence Index compared the staging systems' ability to predict OS duration. Subgroup analyses of patients with or without hepatitis or cirrhosis were performed. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 Median patient OS was 13.9 months; 165 patients (37.7%) had no cirrhosis and 256 patients (58.4%) had no hepatitis. Overall, all staging systems were significantly less predictive of OS in patients who did not have cirrhosis or hepatitis. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 Our results advocate the need to further stratify HCC based on cirrhosis and hepatitis status, which may change patient risk-stratification and, ultimately, treatment decisions.
    Type of Medium: Online Resource
    ISSN: 0030-2414 , 1423-0232
    URL: Article
    DOI: 10.1159/000356573
    RVK:
    XH 3305
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2014
    detail.hit.zdb_id: 1483096-6
    detail.hit.zdb_id: 250101-6
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  • 9
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    Bone Marrow Cell Therapy on 1,2-Dimethylhydrazine (DMH)-Induced Colon Cancer in Rats
    S. Karger AG ; 2018
    In:  Cellular Physiology and Biochemistry Vol. 45, No. 3 ( 2018), p. 1072-1083
    Details
    In: Cellular Physiology and Biochemistry, S. Karger AG, Vol. 45, No. 3 ( 2018), p. 1072-1083
    Abstract: Background/Aims: Stem cell based therapies are being under focus due to their possible role in treatment of various tumors. Bone marrow stem cells believed to have anticancer potential and are preferred for their activities by stimulating the immune system, migration to the site of tumor and ability for inducting apoptosis in cancer cells. The current study was aimed to investigate the tumor suppressive effects of bone marrow cells (BMCs) in 1,2-dimethylhydrazine (DMH)-induced colon cancer in rats. Methods: The rats were randomly allocated into four groups: control, BMCs alone, DMH alone and BMCs with DMH. BMCs were injected intrarectally while DMH was injected subcutaneously at 20 mg/kg body weight once a week for 15 weeks. Histopathological examination and gene expression of survivin, β-catenin and multidrug resistance-1 (MDR-1) by real-time reverse transcription-polymerase chain reaction (RT-PCR) in rat colon tissues. This is in addition to oxidative stress markers in colon were performed across all groups. Results: The presence of aberrant crypt foci was reordered once histopathological examination of colon tissue from rats which received DMH alone. Administration of BMCs into rats starting from zero-day of DMH injection improved the histopathological picture which showed a clear improvement in mucosal layer, few inflammatory cells infiltration periglandular and in the lamina propria. Gene expression in rat colon tissue demonstrated that BMCs down-regulated survivin, β-catenin, MDR-1 and cytokeratin 20 genes expression in colon tissues after colon cancer induction. Amelioration of the colon status after administration of MSCs has been evidenced by a major reduction of lipid peroxidation, nitric oxide, and increasing of glutathione content and superoxide dismutase along with catalase activities. Conclusion: Our findings demonstrated that BMCs have tumor suppressive effects in DMH-induced colon cancer as evidenced by down-regulation of survivin, β-catenin, and MDR-1 genes and enhancing the antioxidant activity.
    Type of Medium: Online Resource
    ISSN: 1015-8987 , 1421-9778
    URL: Article
    DOI: 10.1159/000487349
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2018
    detail.hit.zdb_id: 1482056-0
    SSG: 12
    SSG: 15,3
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  • 10
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    Online Resource
    Natural History of T1N0M0 Hepatocellular Carcinoma: Large-Scale Study in the United States
    S. Karger AG ; 2017
    In:  Oncology Vol. 93, No. 4 ( 2017), p. 233-242
    Details
    In: Oncology, S. Karger AG, Vol. 93, No. 4 ( 2017), p. 233-242
    Abstract: 〈 b 〉 〈 i 〉 Background: 〈 /i 〉 〈 /b 〉 Hepatocellular carcinoma (HCC) prognosis depends on clinicopathological features in addition to the treatment provided. We aimed to assess the natural history of TNM stage I HCC tumors which received different treatment over a period of 20 years. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 Between 1992 and 2011, a total of 397 stage I HCC patients were included. Detailed information was retrieved from MD Anderson Cancer Center patients' medical records. The Kaplan-Meier method was used to calculate patients' overall survival (OS). Cox regression analysis was used to calculate the estimated hazard ratio and 95% confidence interval of different prognostic factors. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 Out of 397 patients, 67.5% were males, 42.8% had hepatitis-related HCC, and 59.7% had underlying cirrhosis. After adjustment for confounding factors, we found that all therapeutic modalities were associated with a significant mortality rate reduction with an OS of 63, 42.03, 34.3, and 22.1 months among patients treated with surgery, ablation, local, and systemic therapy, respectively. A restricted analysis of cirrhotic and noncirrhotic patients showed that ablative and local therapy were significantly associated with a longer OS compared to systemic therapy. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 TNM stage I HCC patients have a favorable prognosis regardless of the type of treatment. Notably, ablative and local therapy significantly improved OS compared to systemic therapy.
    Type of Medium: Online Resource
    ISSN: 0030-2414 , 1423-0232
    URL: Article
    DOI: 10.1159/000455957
    RVK:
    XH 3305
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2017
    detail.hit.zdb_id: 1483096-6
    detail.hit.zdb_id: 250101-6
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