scholarly journals Investigation of Isocitrate Dehydrogenase 1 and 2 Mutations in Acute Leukemia Patients in Saudi Arabia

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1963
Author(s):  
Heba Alkhatabi ◽  
Haneen Abdulfattah Bin Saddeq ◽  
Luay Alyamani ◽  
Thoraia Shinawi ◽  
Elrashed B. Yasin ◽  
...  
Keyword(s):  
Acute Leukemia ◽  
Human Cancer ◽  
Small Sample Size ◽  
Direct Sequencing ◽  
Small Sample ◽  
The Other ◽  
Prognostic Indicators ◽  
Study Cohort ◽  
Aberrant Methylation ◽  
Childhood All

Different forms of human cancer show mutations for isocitrate dehydrogenases 1 and 2 (IDH1/2). Mutation of these genes can cause aberrant methylation of the genome CpG islands (CGIs), which leads to an increase of suppressed oncogenes transcription or repression of active tumor suppressor gene transcription. This study aimed to identify the prevalence of IDH1/2 mutations in acute leukemia patients. The study cohort included 43 AML patients and 30 childhood ALL patients, from whom DNA bone marrow samples were taken. The alteration hotspots in codons IDH1 (R132) and IDH2 (R172 and R140) were examined via direct sequencing. Mutations in IDH1 were detected in 7 out of 43 (16.2%) AML patients; 5 of them occurred at codon R132. The other two mutations included a single-nucleotide polymorphism, which affected codon G105 in one patient. However, no mutation was detected in the IDH2 in any of the patients. Moreover, no mutations were detected in either IDH1 or IDH2 in ALL patients. The dominance of IDH1 mutations in AML, which was 16%, emphasizes the existence of the mutation in our population. On the other hand, IDH2 mutation was observed to be less frequent in both illnesses. Due to the limitation of using a small sample size, larger cohort screening is recommended to determine their usefulness as prognostic indicators.

Correlation of Expression of Breast Biomarkers in Primary and Metastatic Breast Carcinomas: A Single-Institution Experience

2016 ◽  
Vol 60 (5) ◽  
pp. 481-489 ◽  
Author(s):  
Yanjun Hou ◽  
Rulong Shen ◽  
Shweta Chaudhary ◽  
Faye Gao ◽  
Zaibo Li
Keyword(s):  
Small Sample Size ◽  
Growth Factor Receptor ◽  
Metastatic Breast ◽  
Small Sample ◽  
Her2 Status ◽  
Study Cohort ◽  
Breast Carcinomas ◽  
Status Change ◽  
Primary Tumors ◽  
The Status

Objective: Changes in the status of estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor 2 (HER2) in metastatic breast carcinomas are frequently reported. We examined the change in the status of biomarkers in metastatic breast carcinomas. Study Design: This study cohort was composed of 137 metastatic breast carcinomas (58 surgical and 79 cytological specimens) with existing primary tumors during a study period from 2013 to 2015. Results: The overall change rates in metastases were 9, 21 and 6% for ER, PR and HER2, respectively. All changes were from positive in the primary tumor to negative in the metastases. The ER change rate was significantly higher in the cytological than in the surgical metastases. Six of 14 cytological metastases with positive HER2 in primary tumors showed a change in HER2 status, including 5 fluid specimens and 1 fine-needle aspiration (FNA); the other 8 had no change in HER2 status, and included 7 FNAs and 1 fluid specimen. Conclusion: The significant percentage of cases with a change in biomarker status supports the recommendation by the College of American Pathologists to test breast biomarkers in metastases. HER2 status change was mostly identified in fluid specimens; however, the small sample size in our cohort and the fact that HER2 fluorescence in situ hybridization was not performed may warrant further studies.

scholarly journals Influenza Virus Detection Following Administration of Live-Attenuated Intranasal Influenza Vaccine in Children With Cystic Fibrosis and Their Healthy Siblings

2016 ◽  
Vol 3 (4) ◽  
Author(s):  
Constantina Boikos ◽  
Lawrence Joseph ◽  
Christine Martineau ◽  
Jesse Papenburg ◽  
David Scheifele ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Small Sample Size ◽  
Virus Detection ◽  
Credible Interval ◽  
Small Sample ◽  
Influenza Viruses ◽  
Study Cohort ◽  
Rt Pcr ◽  
Rna Detection

Abstract Background.  We aimed to explore the detection profile of influenza viruses following live-attenuated intranasal influenza vaccination (LAIV) in children aged 2–19 years with and without cystic fibrosis (CF). Methods.  Before the 2013–2014 influenza season, flocked nasal swabs were obtained before vaccination and 4 times in the week of follow-up from 76 participants (nCF: 57; nhealthy: 19). Influenza was detected by reverse transcription polymerase chain reaction (RT-PCR) assays. A Bayesian hierarchical logistic regression model was used to estimate the effect of CF status and age on influenza detection. Results.  Overall, 69% of the study cohort shed influenza RNA during follow-up. The mean duration of RT-PCR detection was 2.09 days (95% credible interval [CrI]: 1.73–2.48). The odds of influenza RNA detection on day 1 following vaccination decreased with age in years (odds ratio [OR]: 0.82 per year; 95% CrI: 0.70–0.95), and subjects with CF had higher odds of influenza RNA detection on day 1 of follow-up (OR: 5.09; 95% CrI: 1.02–29.9). Conclusion.  Despite the small sample size, our results indicate that LAIV vaccine strains are detectable during the week after LAIV, mainly in younger individuals and vaccinees with CF. It remains unclear whether recommendations for avoiding contact with severely immunocompromised patients should differ for these groups.

scholarly journals Fish mislabelling in France: substitution rates and retail types

2014 ◽  
Author(s):  
Julien Bénard-Capelle ◽  
Victoire Guillonneau ◽  
Claire Nouvian ◽  
Nicolas Fournier ◽  
Karine Le Loët ◽  
...  
Keyword(s):  
Natural Resources ◽  
Sample Size ◽  
Citizen Science ◽  
Substitution Rate ◽  
Small Sample Size ◽  
Bluefin Tuna ◽  
Small Sample ◽  
The Other ◽  
Species Substitution ◽  
Scientific Expertise

The development of citizen science has brought together scientific expertise and volunteer involvement to answer both scientific and societal questions. In this study, a consortium of citizens, journalist, scientists and non governmental organisations reports the first measure of the market-wide rate of fish mislabelling in France.We collected in fishmonger shops, supermarkets and restaurants and sequenced 390 samples of fish either in fillets or prepared meals, which is the largest dataset assembled to date in an European country.The overall substitution rate is one of the lowest observed for comparable surveys with large sampling in Europe. Remarkably, we detected no case of species mislabelling among the frozen fillets or in industrially prepared meals. We also investigated most of the mislabelling cases detected directly from the sellers. A number of them admitted that the substitution took place at the end of the supply chain.The rate of mislabelling does not differ between species (3.7 %, ci 2.2-6.4%), except for bluefin tuna. Despite a very small sample size (n=6), this species stands in sharp contrast with the low substitution rate observed for the other species (rate between 36 and 99%). This study shows that even in countries where species substitution rate is low, citizen science can enhance the management of natural resources and provide important insights for regulation policies.

A phase I study of nab-paclitaxel (A), gemcitabine (GEM), and capecitabine (X) in patients with metastatic pancreatic adenocarcinoma (MPA).

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 4048-4048
Author(s):  
Thach-Giao Truong ◽  
Margaret A. Tempero ◽  
Emily Kantoff ◽  
Kimberly Jones ◽  
Elizabeth Dito ◽  
...  
Keyword(s):  
Phase I ◽  
Dose Level ◽  
Phase I Study ◽  
Small Sample Size ◽  
Dose Intensity ◽  
Primary Objective ◽  
Small Sample ◽  
Study Cohort ◽  
Entire Study ◽  
Study Results

4048 Background: GEM-based doublets, such as GEM + capecitabine (X), may be beneficial in select pts with MPA. Given preclinical evidence of synergy when a taxane is added to GEM + X, as well as recent phase I/II study results showing substantial activity with GEM + nab-paclitaxel (A) (ORR of 48%, median OS > 12 mos at MTD), we conducted a phase I study evaluating the 3-drug combination of A, GEM, and X (AGX) given biweekly in pts with MPA. Methods: Pts with previously untreated MPA and ECOG PS 0-1 were eligible. A (100-150 mg/m2) and GEM (750-1000 mg/m2 at 10 mg/m2/min) were both administered on day 4, and X (500-1000 mg/m2 bid) on days 1-7, of each 14-day cycle. A 3+3 dose escalation design was used, with expanded cohort at MTD. Primary objective was to establish MTD of this regimen; secondary objectives include safety and preliminary assessment of efficacy. DLT definitions: gr 3-4 ANC or neutropenic fever; gr 4 plts; gr 2-4 hand-foot syndrome (HFS), neuropathy or diarrhea; or other gr 3-4 non-heme toxicity. Results: Fifteen patients were enrolled across two dose levels (age range, 45-74 y). Final MTD was established at dose level 0, consisting of A 100 mg/m2, GEM 750 mg/m2, and X 750 mg/m2 bid. At dose level 1, two of 4 pts experienced DLTs (gr 3 LFT elevation, gr 3 ANC). For the entire study cohort, 10 pts (67%) experienced at least one gr 3-4 AE, including LFTs (20%), N/V (13%), and fatigue (7%). Gr 3-4 heme toxicity was uncommon. Other notable AEs (any grade): fatigue (87%), rash/HFS (67%), N/V (53%), diarrhea (40%), neuropathy (33%). Median # cycles received = 4 (range, 2-16). 73% of pts d/c’ed study treatment due to disease progression. Best response for the entire cohort (n=14 evaluable pts): 2 PR, 8 SD, 4 PD (disease control rate = 71%). Of 12 pts with elevated CA19-9 at baseline, 5 (42%) had >50% biomarker decline. Conclusions: Recognizing the limits of cross-study comparisons and small sample size, these results do not match those reported at MTD in the phase I/II trial of GEM (1000 mg/m2) + A (125 mg/m2). The modest activity seen with this AGX regimen may have resulted from suboptimal dosing, and suggests that dose intensity may be an important factor when trying to incorporate nab-paclitaxel into multidrug regimens.

Comparison of Quality of Life across Adolescents with Cancer, Sickle Cell Disease and Hemophilia.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 5176-5176
Author(s):  
Mukta Sharma ◽  
Kristin Stegenga ◽  
Gerald Woods
Keyword(s):  
Quality Of Life ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Small Sample Size ◽  
Well Being ◽  
Small Sample ◽  
The Other ◽  
Oncology Group ◽  
Cell Disease

Abstract The purpose of this study is to assess Quality of Life (AQoL) of adolescents with cancer and compare it to adolescents with other hematological disorders who receive medical care from the Hematology/Oncology Clinic at Children’s Mercy Hospitals and Clinics (CMHC). Children with cancer are surviving longer due to improved medical care, and cancer is recently being recognized as a chronic illness. The other two disease conditions we are comparing the QoL of adolescents with cancer are - sickle cell disease (SCD) and hemophilia. Literature shows evidence that for each disease condition, patients have lower QoL compared to their healthy counter-parts, but there is a void in area of research comparing QoL of adolescents with cancer to other blood diseases like hemophilia and SCD. This project was funded by Children’s Mercy Cancer Center Board. Methods - Subjects between ages of 11 to 17 years with diagnosis of cancer, sickle cell disease or hemophilia that are followed at CMHC were eligible to participate. We mailed out AQoL questionnaires to 100 oncology, 100 sickle cell, and 52 hemophilia adolescents who were identified from database. Data was collected using a Likert-scaled instrument with 25 questions under four major sub-domains - Physical, emotional, social and functional well being. The AQOL scores for each domain represented an average of the Likert scale items with a theoretical minimum of 0 and a theoretical maximum of 4. We defined a difference of 0.5 or greater on any subdomain as having clinical relevance. Results 41 oncology, 29 SCD and 17 hemophilia responses were received back. Demographic data were self-disclosed to describe the sample population. Overall AQoL scores ranged from 0.0 to 4.0 for Phys, 1.0 to 4.0 for Soc, 0.4 to 4.0 for Emotional, and 1.4 to 4.0 for Functional subdomain. For all four measures, the scores were skewed right (clustered towards the upper limit with a long tail extending to the lower values). Only the Physical subdomain showed a borderline effect (p=0.056) with the Hemophilia group showing a larger mean than the other two groups. The remaining subdomains did not exhibit differences large enough to be clinically or statistically significant. Although there were small difference in the Oncology group with gender on the Physical and Emotional scale, these difference were not statistical significant. The differences on the Social and Functional well being scale were very small and within the range of clinical indifference, even after allowing for sampling error. There were no statistical or clinical differences in the Sickle Cell group between boys and girls, but this may be due to the small sample size in this group. No comparison with gender was possible in the hemophilia group. There were no statistical differences in the oncology group between those on or off treatment, but this may also be due to the small sizes in these groups. Conclusion With a few exceptions, the QOL subdomains showed no statistically significant or clinically significant differences between the three disease groups or between the boys and girls within each disease groups. This may be due, in part, to the small sample size of this study. There were two trends with achieved borderline significance: hemophilia patients showed higher AQOL scores on the physical and emotional subdomains.

scholarly journals Angio-tropic melanocytes: Possibly a distinctive finding in extra-facial acquired dermal melanocytosis

2021 ◽  
Vol 0 ◽  
pp. 1-6
Author(s):  
Saurabh Singh ◽  
Poonam Elhence
Keyword(s):  
Clinical Presentation ◽  
Small Sample Size ◽  
Normal Skin ◽  
Small Sample ◽  
The Other ◽  
Medical Sciences ◽  
Heterogenous Group ◽  
The Face ◽  
Capillary Endothelial Cells ◽  
Histopathologic Findings

Background: Acquired dermal melanocytosis is a heterogenous group of hyperpigmented lesioins which predominantly involve the face. Aim: The aim of this study was to study the clinical presentation and histopathology of cases with extra-facial acquired dermal melanocytosis. Methods: Retrospective record analysis was performed between May 2016 to August 2019 to retrieve cases of extra-facial acquired dermal melanocytosis seen at the out-patient department of dermatology at the All India Institute of Medical Sciences, Jodhpur. Consecutive cases with histopathologically proven diagnosis of acquired dermal melanocytosis were included. Documentation of variation in clinical presentation and histopathologic findings was done in light of the existing literature. Results: Overall, four cases of extra-facial acquired dermal melanocyosis (female:male = 1:3) were seen during the study period. The lone case on head and neck involved the ear lobule and peri-auricular area. The other three cases had involvement of the hand. The histopathology confirmed the diagnosis of dermal melanocytosis but revealed peculiar findings of angiotropic melanocytes and dilated capillaries. Limitations: Small sample size and lack of comparison with perilesional normal skin were the limitations of this study. Conclusion: The findings of angiotropic melanocytes may be unique to extra-facial acquired dermal melanocytosis. This might indicate interaction between dermal melanocytes and capillary endothelial cells. This finding along with dermal capillary ectasia may indicate a possible role for vascular lasers in the management of these disorders.

Clinical outcomes of early-stage ampullary carcinoma: A single institutional experience.

2017 ◽  
Vol 35 (4_suppl) ◽  
pp. 456-456
Author(s):  
Ashish Manne ◽  
Sushanth Reddy ◽  
Peng Li ◽  
Carlo M. Contreras ◽  
John Christein ◽  
...  
Keyword(s):  
Overall Survival ◽  
Adjuvant Treatment ◽  
Early Stage ◽  
Small Sample Size ◽  
Ampullary Carcinoma ◽  
Current Data ◽  
Small Sample ◽  
Study Cohort ◽  
Regional Lymphadenectomy ◽  
Significant Difference

456 Background: Ampullary carcinoma [AC] is a rare malignancy associated with favorable prognosis among pancreatobiliary tumors. Pancreaticoduodenectomy [PDY] is considered to be curative for early stage cancers. The role of adjuvant chemotherapy [CT] or combination chemoradiation [CRT] remains uncertain for stage I/II. In this analysis we reviewed our institution’s experience with AC. Methods: From 2005 to 2015, 62 patients with stage 1 and 2 AC with at least one year follow up after PDY were reviewed. Clinical and pathologic factors and disease status were obtained from chart review. The patients’ demographical and oncological characteristics are summarized. The univariate Cox proportional hazard model was conducted for evaluating the parameters associated with overall survival. Kaplan-Meier method and log-rank was used to compare the time-to-events. Results: Adjuvant treatment was administered in 61%: CT (32%), CRT (29%) 39% surgical alone. The median overall survival [OS] for the study cohort is 60 months with 3 yr OS at 58% and 5 yr OS at 50%. Recurrence noted in 21% of patients. About half of patients surviving five years were alive at 10 years. Lymph node [LN] metastases (57%) predicted worse PFS (HR 2.29, 95% CI (1.13-4.61), p = 0.021) but did not significantly affect OS (HR 1.2, 95% CI (0.84-3.61);p = 0.13). There were no postoperative deaths following surgery.Peri- pancreatic extension [PPE] (20%) and peri-neural invasion [PNI] (16%) was also found to be determinants for poor OS. Current data did not suggest lympho-vascular invasion (24%) predict OS (HR 1.20, 95% CI (0.49, 2.96);p = 0.63 or PFS(HR 1.45 (0.65, 3.20),p = 0.36). When compared to surgery alone adjuvant CT or CRT had no statistically significant difference in terms of PFS (p = 0.53) or OS (p = 0.96). Conclusions: The use of adjuvant treatment may be most useful at improving long-term disease control in patients with high-risk features; however, no significant difference between CT and CRT was demonstrated in our series. This could be due to small sample size and needs further validation in larger cohort. PDY with regional lymphadenectomy is appropriate for early-stage AC, but worst outcomes seen in patients with PPE, PNI and LN involvement.

Sialorrhea — Therapeutic Drug Options

2002 ◽  
Vol 36 (11) ◽  
pp. 1785-1790 ◽  
Author(s):  
Dorothy Z Tscheng
Keyword(s):  
Small Sample Size ◽  
Symptom Relief ◽  
Small Sample ◽  
The Other ◽  
Therapeutic Drug ◽  
Efficacy And Safety ◽  
Drug Induced ◽  
Data Synthesis ◽  
Search Terms ◽  
Drug Treatments

OBJECTIVE: To review the efficacy and safety of various drug treatments for sialorrhea. Pharmacotherapy for drug-induced sialorrhea is not addressed. DATA SOURCES: Clinical studies were identified using PubMed (1966–October 2001). Key search terms included sialorrhea and drug therapy. DATA SYNTHESIS: Sialorrhea is a social and physical detriment to patients. Drug treatment, although not necessarily the treatment of choice for all patients, can offer some symptom relief. CONCLUSIONS: Literature has documented that benztropine, glycopyrrolate, and scopolamine can reduce the incidence of sialorrhea. Although the literature evaluating the therapeutic options has limitations (e.g., small sample size, inconsistent outcome measurements), glycopyrrolate may have an advantage over the other agents due to fewer adverse effects.

scholarly journals Retrospective study of the effectiveness of four different treatments of equine cheek teeth periodontal disease

2016 ◽  
Author(s):  
Kirsten Jackson ◽  
Lukas M. Weber ◽  
Marc Tennant
Keyword(s):  
Periodontal Disease ◽  
Sample Size ◽  
Small Sample Size ◽  
Case Series ◽  
Small Sample ◽  
The Other ◽  
Periodontal Pocket ◽  
Confounding Effect ◽  
Pocket Depth ◽  
Treatment Methods

Reasons for performing the study. Equine cheek teeth periodontal disease is a common, often painful dental condition that may lead to premature tooth loss if left untreated. All cases of periodontal disease in this study were associated with diastemata, with the majority of cases being secondary or senile diastemata. At present limited objective information is available comparing different treatment methods for the condition to assist clinicians in making evidence-based treatment decisions. Objectives. To compare the effectiveness of four commonly used treatments for equine periodontal disease (additional to routine dental treatment and equilibration) to assess their merit in reducing periodontal pocket depth. Study design. Retrospective case series. Methods. Four commonly used equine periodontal treatments were compared: Removing feed material and lavaging the periodontal pocket with dilute chlorhexidine and rinsing the mouth with chlorhexidine based mouthwash (‘Hexarinse’), ‘clean and antiseptic lavage’ (CL); CL plus the addition of metronidazole antibiotics into the periodontal pockets (M); M plus the addition of a polyvinyl siloxane temporary filling over the diastema (PVS); and diastema widening to open the diastema and increase the interdental space between adjacent teeth, then PVS (DW). Periodontal pocket depth measurements were compared before and after treatment at treatment intervals between two and six months. Results. Treatment groups CL, M and PVS showed statistically significant reductions in pocket depth following treatment. Mean pocket depth reduction was greatest in the DW group (and this was the only group with no cases involving an increase in pocket depth), but this was based on a small sample size and was not statistically significant. Additional analysis to compare effectiveness revealed a strong confounding effect of initial pocket depth. After taking this into account, there was some evidence that DW was associated with smaller improvements than the other treatments, however this result was also based on a small sample size, and influenced by a small number of cases with particularly large improvements. Among the other treatments, no statistically significant differences in effectiveness were found. Conclusion. This study has shown that treatment methods CL, M and PVS are associated with statistically significant reductions in pocket depth. Due to the confounding effect of initial pocket depth, no clear differences in effectiveness were found between treatment methods.

scholarly journals Acceptable performance of the Abbott ID NOW among symptomatic individuals with confirmed COVID-19

2021 ◽  
Vol 70 (7) ◽  
Author(s):  
William Stokes ◽  
Byron M. Berenger ◽  
Takshveer Singh ◽  
Ifueko Adeghe ◽  
Angela Schneider ◽  
...  
Keyword(s):  
Throat Swab ◽  
Clinical Performance ◽  
Small Sample Size ◽  
Small Sample ◽  
The Other ◽  
Symptom Duration ◽  
True Positive ◽  
Rt Pcr ◽  
Pcr Assay ◽  
Specimen Collection

Introduction. The ID NOW is FDA approved for the detection of SARS-CoV-2 in symptomatic individuals within the first 7 days of symptom onset for COVID-19 if tested within 1 h of specimen collection. Gap statement. Clinical data on the performance of the ID NOW are limited, with many studies varying in their study design and/or having small sample size. Aim. In this study we aimed to determine the clinical performance of the ID NOW compared to conventional RT-PCR testing. Methodology. Adults with COVID-19 in the community or hospital were recruited into the study. Paired throat swabs were collected, with one throat swab transported immediately in an empty sterile tube to the laboratory for ID NOW testing, and the other transported in universal transport media and tested by an in-house SARS-CoV-2 RT-PCR assay targeting the E gene. Results. In total, 133 individuals were included in the study; 129 samples were positive on either the ID NOW and/or RT-PCR. Assuming any positive result on either assay represents a true positive, positive per cent agreement (PPA) of the ID NOW compared to RT-PCR with 95 % confidence intervals was 89.1 % (82.0–94.1%) and 91.6 % (85.1–95.9%), respectively. When analysing individuals with symptom duration ≤7 days and who had the ID NOW performed within 1 h (n=62), ID NOW PPA increased to 98.2 %. Conclusion. Results from the ID NOW were reliable, especially when adhering to the manufacturer’s recommendations for testing.

Sign in / Sign up

Export Citation Format

Share Document