Determination of delay in burn around time (TAT) of stat tests and its causes: an AKUH experience.

Abstract Objective: To evaluate the delay and reasons of delay of turnaround time (TAT) of stat tests in the section of clinical chemistry of the clinical laboratory. Setting: Clinical Laboratory, Aga Khan University Hospital, Karachi. Patients and Methods: In our study turn around time (TAT) of stat tests were analyzed. Turn around time was specified as the time from receipt of the sample till the final verification of results (sample receipt time to result verification time). Delays were categorized into 15 minutes, 16-30 minutes, 31 to 60 minutes and \u3e60 minutes. It was also noted as to which time of the day was delay in reporting stat results occurred. Reasons for the delay were also looked ihto. Results: Total 20079 stat samples were received from August 2001 till October 2001. Four hundred eight (2.03%) samples were reported after the acceptable turnaround time. Cumulative analysis of the excess TAT of stat tests showed that 0-15 minutes delay was noted in 68 (16.7%) samples, 16-30 minutes delay in 80(19.6%) samples, 31-60 minutes delay in 76 (18.6%) samples and more than 60 minutes delay in 185 (45.3%) of samples. Most of the delay in reporting of stat test in three months time was surprisingly noted in the morning shift. Overall delay in reporting in morning shift was found to be of 242 (59.3 %) samples. In the evening and night shift 83 (20.3%) and 82 (20.1%) samples respectively were found to be delayed. Reasons for delay in TAT were as follows: n = 163 (40%) due to machine breakdown, n=147(36 %) due to delay in the maintenance of analyzers, n=73 (18 %) due to overlook of the staff during shift change (e.g. night shift to morning shift) and n= 25 (6%) due to computer shutdown. Conclusion: We conclude that most of the delay in TAT of stat tests in our laboratory occurred for more than 60 minutes and was frequently seen in the morning shift. It was also noticed that machine breakdown was the most common reason for this delay. Regular audit of such data helps in the evaluation of the efficiency of the laboratory and hence corrective measures taken accordingly would be helpful in providing better service to the physicians and patients (JPMA 53:65;2003)

Frequency and clinical spectrum of rare inherited coagulopathies--a tricenter study

OBJECTIVE: To determine the frequency of rare inherited coagulopathies at three centers of haematology in Karachi and to study the clinical spectrum and laboratory data of these coagulopathies. METHODS: This was a descriptive study conducted from September 2003 to December 2004 on subjects from Aga Khan University Hospital, Husaini Blood Bank and Fatimid Blood Transfusion Centre. All the subjects with bleeding tendency without any acquired causes of bleeding were selected for further investigation, and were asked relevant questions as present in the questionnaire. Screening tests including platelet count, PT, APTT and bleeding time were performed on all patients and subsequently, specific tests including factor assay, clot solubility test, platelet aggregation and vWFAg were performed. RESULTS: In total, 1100 patients were evaluated for bleeding tendency at the three centers and 65 patients were diagnosed to have inherited coagulopathy other than haemophilia A and B. Out of these 65 patients, 33 (50.7%) were males and 32 (49.2%) were females. Rare inherited coagulopathies that were found in our population included deficiency of factor VII {n = 21 (32.3%)}, factor X {n = 17 (26.1%)}, factor XIII {n =14 (21.5%)}, factor V {n = 9 (13.8%)}, fibrinogen {n = 2 (3%)}, prothrombin {n = 1 (1.5%)} and factor XII {n = 1 (1.5%)}. CONCLUSION: Inherited coagulopathies other than haemophilia A and B were noted in the study population

Anaphylactic reaction after intramuscular injection of cyanocobalamin (vitamin B12): a case report

We report a case of anaphylactic reaction to intramuscular injection of cyanocobalamin. This 52-year-old lady was diagnosed as a case of megaloblastic anemia secondary to dietary vitamin B12 deficiency. She had severe anaphylactic reaction after the parenteral administration of cyanocobalamine. Later she received oral vitamin B12 with no adverse effects. The purpose of this case report is to draw attention to the hypersensitive reaction to injectable vitamin B12, which is rarely seen. This could be due to sensitization to the vitamin B12 molecule itself or an IgE mediated reaction. We concluded that anaphylactic reaction to vitamin B12 is a rare but serious side effect and it should be kept in mind while the drug is being administered to the patient, especially via the parenteral route

Hairy cell leukemia: clinical presentation and long term follow up after treatment with 2-chlorodeoxyadenosine (2-CdA)

The aim of the study was to the clinical features and long term follow up after treatment with Cladarbine in a tertiary care hospital. Seven patients with hairy cell leukemia were diagnosed between January 1990 till December 2003. Diagnosis in all the patients was established by bone marrow aspirates and trephine biopsy along with TRAP. In two patients the diagnosis was supplemented by flowcytometry and in another two patients by splenectomy. Six patients were male while one was female. Mean age was 47.7 years (range 36-64). Most common presenting features were pallor and weakness (n=5). All patients had splenomegaly. Blood count at presentation revealed that one patient had bicytopenia, two had isolated thrombocytopenia, and three had pancytopenia. Treatment responses were evaluable in seven patients. Complete response was seen in six patients (85.7%). One patient died after two months due to sepsis while 3 (50%) patients relapsed. Those who relapsed received another course of CDA and have maintained remission with a median duration of response of 48 months (20-48). From this small series we can conclude that CDA is an effective treatment for HCL and even it works very well in relapsed cases

Frequency of irregular red cell alloantibodies in patients with thalassemia major: a bicenter study

Objective: To provide frequency and distribution pattern of various types of irregular red cell alloantibodies in patients with thalassemia major. Methods: This is a descriptive study conducted at two centers from January to December 2001. Purposive sampling was done and all patients diagnosed to have thalassemia major were included in the study. Antibody identification was carried out on serum employing commercial two-cell panel using standardized blood bank methods. If patients were found to have an irregular red cell alloantibody then the antibody identification was performed using 16 panel cells. Results: A total of ninety-seven patients were included in the study. Fifty-three patients were males and 44 females. Mean age was 10.6 years. Irregular red cell alloantibodies were found in 9 (9.2%). Mean age of patients who developed red cell alloantibody was 11.9 years. Three (33.3%) patients developed anti-K while two (22.2%) had non-specific antibody. One patient each developed anti-D (11.1%) and anti-E (11.1%). Two had anti-D (11.1%) and anti-C while the other one (11.1%) developed anti-E and anti-K. Conclusion: We concluded that there is relatively high rate of alloimmunization in our set of patients when compared to data from our region. We also suggest that red cell alloimmunization should not be overlooked in patients receiving regular blood transfusion

Viral etiology of prostate cancer: Genetic alterations and immune response. a literature review

Prostate cancer is one of the most common cancers in men. Recent estimates suggest that over a million men are diagnosed with the disease annually. Prostate cancer pathogenesis involves both heritable and environmental factors. The molecular events involved in the development or progression of prostate cancer are still unclear. Recent body of literature highlights the role of viral infections in initiation or progression of prostate cancer. In this regard, certain viruses have been reported to interact with host proteins and bring about changes in genetic, immunological and inflammatory events that lead to initiation or progression of prostate cancer. We conducted a comprehensive PubMed database search to identify publications relevant to viruses associated with prostate cancer. In this review, we discuss the possible viral etiology of prostate cancer and evidence of viral-mediated genetic changes, and immune dysregulation involved in initiation or progression of prostate cancer

The utility of red cell discriminant function (DF) in screening for trait

Objective: This study was conducted to determine the frequency of minor in adult males at a tertiary referral center by using discriminant function (DF) and to compare mean MCV (mean corpuscular volume) and mean RBC (red blood cell) count in minor and non thalassaemia minor group. Study Design: This was an observational cross-sectional study. Place and Duration of Study: This study was conducted at the Clinical Laboratory, Agha Khan University Hospital from 151 August 2003 to 31st October 2003. Materials and Methods: Blood samples were taken from normal individuals in EDTA and were run on Coulter STKS. The indices that were taken into consideration were haemoglobin, RBC count and MCV. DF was calculated by formula as proposed by England and Fraser. Discriminant Function = MCV- (5xHaemoglobin)-RBC-3.4. If the value was less than zero, it was interpreted as suspected thalassaemia minor. Mean MCV and mean RBC count in thalassemia minor and iron deficiency anaemia were calculated and compared. Results: A total of 1270 individuals were included in the study. In 70 individuals, the red cell indices were found to be low. Their DF was calculated and thalassaemia minor was suspected in 49 individuals and this was confirmed with haemoglobin electrophoresis in 25 patients. Mean MCV was almost the same in both thalassaemia minor and iron deficiency anaemia. However, mean RBC count was relatively higher in case of thalassaemia minor. Conclusion: Discriminant function can be a good screening tool for evaluating patients with low red cell indices. However, further confirmation with haemoglobin electrophoresis is required for labeling a patient as having thalassaemia mino

Synonymous polymorphism rs201256011 in dopamine receptor type 2 gene is associated with schizophrenia and PANSS score in Pakistani population: A first report

Aim: Variations of dopamine receptor type 2 (DRD2) are among the key factors involved in the pathology of schizophrenia. Presence of certain SNPs in DRD2 gene also amend patients\u27 response to antipsychotics. Keeping in view the genetic diversity among populations and important role of DRD2 polymorphisms in schizophrenia we aimed to study two of its SNPs rs1801028 and rs6277 in patients with schizophrenia from Pakistan.Methods: A total of 100 schizophrenia cases and 100 healthy controls were recruited. DNA was extracted from whole blood followed by PCR, Sanger sequencing and genotyping of two SNPs i.e. rs1801028 and rs6277.Results: No association of rs1801028 and rs6277 was found with schizophrenia in Pakistani population (P\u3e0.05). Highlight of our study is the association of polymorphism rs201256011 with schizophrenia (P=0.001), which is being reported for the first time. Significant association of rs201256011 was also found with PANSS negative, cognitive and total score (P\u3c0.05).Conclusion: In conclusion, genetic variants rs1801028 and rs6277 of DRD2 are not associated with schizophrenia in Pakistani population. While, previously unreported polymorphism rs201256011 have shown significant association with schizophrenia and its severity. A large scale multicenter replication study is required to confirm the association of this SNP with schizophrenia

Killer cell immunoglobulin-like receptor profile in acute myeloid leukemia with heterogenous cytogenetic abnormalities and its association with clinical outcome

Introduction: Acute myeloid leukemia (AML) is associated with heterogeneous cytogenetic abnormalities which contributes towards biology and prognosis of the disease. Natural killer (NK) cells are the first line of defense against tumor cells. NK cells interact with AML cells via multiple receptors including killer cell immunoglobulin-like receptor (KIR). Evidence of susceptibility of AML cells to NK cells in the context of KIR-ligand mismatch NK immunotherapy has suggested a role of KIR repertoire in the development and clinical outcome of AML. The aim of this study is to determine the KIR profile of AML patients with different cytogenetic abnormalities and to evaluate its association with clinical outcome. Methods: Peripheral blood was collected from patients diagnosed with AML after informed consent in accordance with Declaration of Helsinki and approved from Ethical Review Board of Aga Khan University. Peripheral blood mononuclear cells were isolated and subjected to genomic DNA extraction. KIR genotyping was performed by polymerase chain reaction using sequence-specific primers (Vilches et al, Tissue Antigens 2007). Relationship between KIR loci in AML and healthy individuals was compared using chi-square test. Statistical analysis was performed using SPSS statistics (version 26) and a p value of \u3c0.05 was considered statistically significant.Results: KIR genotyping was performed on 35 cases of AML with mean age of 39 years (range:16-58). Number of male and female patients was 25 and 10 respectively. We found 3 (8.57%) patients with AA KIR haplotype while 33 (91.42%) patients showed Bx haplotype (Figure 1). All the patients with AA haplotype harbored t(15;17) (q22; q21) which has a favorable prognosis while patients with Bx KIR haplotype showed cytogenetic abnormalities with favorable, intermediate, and adverse prognosis.Conclusion: We found that the majority of patients diagnosed with AML harboring heterogenous cytogenetic abnormalities exhibit a Bx KIR haplotype with B-content score of 2. We did not find any specific cytogenetic abnormality to be associated with a particular B-content score. As we look at our data closely, it seems that it is the cytogenetic abnormality and not the B-content score that dictates the outcome after first induction chemotherapy. We found that patients with AML have decrease in gene frequency of 2DL1 (inhibitory KIR) and 2DS3 (activating KIR) while an increase in gene frequency of 2DS4 (activating KIR) compared to healthy individuals. Further studies are required to determine if variable gene frequency of these 3 KIR loci contributes towards the development of AML

A novel variant in dopamine receptor type 2 gene is associated with schizophrenia

Background: Being the primary target of antipsychotic therapy, dopamine receptor type 2 (DRD2) remains a point of interest in schizophrenia pathology. Polymorphisms in DRD2 have been shown to alter patients\u27 response to antipsychotics. DRD2 SNP rs6275 (C\u3eT) have found to be associated with schizophrenia in different populations; however, data remains inconsistent.Aim of the study: Keeping in view the genetic diversity the present study was aimed to explore association of rs6275 with schizophrenia in population from Pakistan.Method: Using Diagnostic and statistical Manual 5 (DSM 5) criteria, 100 schizophrenia cases and 100 controls (individuals without any psychiatric illness) were enrolled in the study. Severity of illness was determined using PANSS score. Genotyping was done via Sanger sequencing. MEGA-X was used to align the sequences, Expasy translate tool was used to translate nucleotide sequences. Difference in genotype and allele frequencies between cases and controls was determined using χ2 test.Result: No significant difference in genotype or allele frequencies of rs6275 (p \u3e0.0.5) was found between cases and controls. Interestingly, a novel SNP (C\u3eA, Pro297Thr) was spotted during electropherogram analysis at position chr11:113412805. Significant difference was found in genotype and allele frequency of this novel SNP among schizophrenia cases and controls (p = 0.003).Conclusion: No association of rs6275 was observed with schizophrenia in Pakistani population. However, the study found significant association of a novel missense SNP of DRD2 at chr11:113412805 (C\u3eT) with schizophrenia in Pakistani population. A large-scale multicenter study will be required to confirm the association of this novel SNP with schizophrenia