Interaction of - α 3.7, ? Thalassemia Mutation IVS 1-5 and HbD Punjab in a Family: A Case Report

Hemoglobin D exist in four form; HbD trait, HbD-thalassemia, HbD sickle cell and HbD homozygous. HbD trait and HbD homozygous generally asymptomatic condition but when HbD co-inherit with thalassemia and sickle cell anemia, produces clinically significant conditions like chronic hemolytic anemia. Here we present a case of HbD Punjab with α 3.7 kb deletion and IVS-1-5 β-thalassemia across a family. Diagnosis of HbD patient was performed by high performance liquid chromatography and complete blood count was measured by automated cell analyzer. Molecular study for common alpha deletions done by Gap-PCR while beta thalassemia mutation identified by ARMS-PCR. Case was clinically significant due to the inheritance of HbD/β⁺thalassemia genotype. Thus observed case behaved like thalassemia intermedia due to co-existence of α 3.7 deletions with IVS 1-5 β-thalassemia mutation in HbD Punjab patient.     

A study on the glucose uptake,pyruvate and lactate formation in red blood cells of normal,sickle cell trait and sickle cell patients

The rate of glucose consumption and pyruvate and lactate production in red blood cells of normal, sickle cell trait and SS disease subjects were measured. Glucose consumption was found to be increased significantly (p<0.05) in red cells of sickle cell patients than the sickle cell trait and normal persons. There was also an increased rate (p<0.05) of pyruvate formation and a significant (p<0.05) increase in lactate formation in sickle red cells.     

Association of Inflammatory Biomarker C-Reactive Protein, Lipid Peroxidation and Antioxidant Capacity Marker with HbF Level in Sickle Cell Disease Patients from Chattisgarh

This study was undertaken to determine the association of inflammatory biomarker, oxidative stress and antioxidant capacity marker with fetal haemoglobin (HbF) level among sickle cell trait and sickle cell disease (SCD) patients in Chattisgarh. The study group consisted of 51 SCD (SS) patients with painful episode, 49 SCD (SS) patients with steady state, 50 sickle cell trait (AS) and 50 controls. Malondialdehyde (MDA), CRP, total antioxidant power (FARP), total thiol and HbF levels were quantified. We found a significant positive (p < 0.0001) association between CRP and MDA levels and its inverse association with HbF level in SS patients. We also observed that antioxidant capacity had significantly positively (p < 0.0001) associated with HbF level. The protective effect of HbF was found, because the increase in HbF levels resulted in decrease in lipid peroxidation and inflammation in SCD patients. A decrease in the HbF level and its antioxidant capacity has been associated with the pathogenesis of SCD. These finding may explain the high level of HbF is ameliorating oxidative stress and inflammation in SCD patients.     

Role of Plasma MMP 9 levels in the Pathogenesis of Chronic Pancreatitis

Pancreatic fibrosis is a key pathological feature in the etiology of chronic pancreatitis that leads to obliteration of exocrine and endocrine pancreatic tissues and its replacement by fibrous tissue resulting in clinical manifestations. Matrix metalloproteinase 9 is a member of the MMP family that is also known as gelatinase B, degrades type IV collagen of extracellular matrix and basal membrane. The present study is aimed at evaluating the clinical significance of plasma concentration of MMP-9 in chronic pancreatitis. The samples were obtained from 112 chronic pancreatitis patients and an equal number of age and sex matched healthy controls. MMP-9 levels were quantitatively measured by ELISA assay. Statistical analysis was applied to test the significance of results. The present study revealed a significant increase of plasma MMP 9 levels in chronic pancreatitis patients compared to control subjects. Elevated levels were also observed in all the patient groups compared to control subjects with regard to sex, age, addictions etc. MMP-9 degrades the type IV collagens in normal basement membrane, which in turn activates the pancreatic stellate cells which promote the development of pancreatitic fibrosis. Thus, elevated plasma levels of MMP-9 may act as a susceptibility factor for the development of chronic pancreatitis.     

Pro-oxidant and anti-oxidant status in patients of sickle cell anaemia

The role of oxidant damage to red cells in sickle cell anaemia has been of interest in recent years. Although, available reports suggest that sickle cell erythrocytes are susceptible to endogenous free radical mediated oxidant damage there remains discrepancy in the status of antioxidant enzymes and antioxidant vitamins in these patients. In view of this, 107 cases of sickle cell anaemia (36 ‘SS’ and 71 ‘AS’ pattern—as confirmed by haemoglobin electrophoresis) were subjected to analysis of malondialdehyde, ascorbic acid, superoxide dismutase and albumin. The results were compared with 54 age and sex matched healthy controls. The results indicate a marked increase in lipid peroxidation and superoxide dismutase levels in both ‘SS’ and ‘AS’ types of sickle cell anaemia as compared to controls. Although no difference was observed in the levels of albumin in these groups the levels of ascorbic acid were significantly depleted in sickle cell anaemia patients. The results are indicative of enhanced lipid peroxidation along with imbalance in the pro-oxidant and antioxidant status in patients of sickle cell anaemia.     

Association of Low Serum Iron with Alpha Globin Gene Deletions and High Level of HbF with Xmn-1 Polymorphism in Sickle Cell Traits

Usually sickle cell traits are asymptomatic but co-existence of various factrors may alter the clinical as well as biochemical levels. In India sickle cell traits are neglected condition. Here we are presenting the alpha deletion in association with low serum iron and increased HbF level with Xmn-1 carriers in sickle cell traits. Sickle traits with alpha deletions had significantly low level of serum iron (P-value <0.05) with low level of reticulocytes and red cell indices while Xmn-1 polymorphism associated with increased HbF level. Study concludes low serum iron associated with alpha deletions and high level of HbF associated with Xmn-1 polymorphism in sickle cell traits.     

Biochemical Indicator of Sickle Cell Disease: Preliminary Report from India

Blood biochemistry has significant effect on pathophysiology of human body. Recently few studies found the association of biochemical abnormalities in sickle cell patients. Sickle cell disease showed clinical variability where African ancestors have severe phenotype than Indian sicklers. Our aim was to evaluate the biochemicals in sickle cell patients and their effect on severity. Here we present the comparative biochemical levels in sickle cell patients as well as controls. Sickle cell patients diagnosed by HPLC and biochemical analysis done by Beckman-auto analyzer. T test applied for statistical analysis. Result showed the renal abnormality lesser in patients and related biochemical within the normal range and statistically not significant. Electrolytes, hepatic enzymes, alkaline phosphatase and glucose were elevated and statistically significant (P value <0.05). Observation of the study concludes the biochemical abnormality play a significant role in sickle cell patient’s physiopathology and can be used to management of the disease.     

Diagnostic efficiency of amylase and type IV collagen in predicting chronic pancreatitis

Chronic pancreatitis, an irreversible inflammatory disease of the pancreas, is associated with the replacement of the destroyed parenchyma by extended development of fibrosis. Despite marked progress in diagnostic tools, no consensus has been reached in diagnosis of chronic pancreatitis. In this study we examined the hematological and biochemical parameters among 40 chronic pancreatitis patients within 18 to 67 yrs. ESR level and ALP activity was elevated in 40% cases. Serum amylase activity increased in 32 patients and it showed significant correlation with ALP (r=0.458, p=0.003), CA-19.9 (r=0.556, p<0.001), and calcium level (r=−0.472, p=0.002). Type IV collagen level in chronic pancreatitis also elevated (164.4 ± 55.5 ng/ml) and showed negative significant correlation with calcium level (r= −0.505, p=0.001). However, no significant correlation was observed between amylase activity and type IV collagen (r=0.289, p= 0.07).     

Characterization of a hemoglobin variant: HbQ-India / IVS 1-1 [G>T]-β-thalassemia

Hemoglobin Q- India (alpha) 64 Asp → His is an alpha chain variant which is generally found in heterozygous state and presents normal hematological blood picture. Here we report a rare case of HbQ-India with a thalassemic phenotype that has been analyzed using a combination of mass spectrometry, gene sequencing and PCR analysis. This combined analyses revealed the HbQ variant to be associated with a beta chain mutation, IVS 1-1 [G>T]. Though HbQ has earlier been reported with thalassemic trait using different techniques, this is the first report of a compound α and β chain Hb heterozygous mutant involving HbQ and IVS1-1 being validated using Mass Spectrometry and Reverse dot blot hybridization.     

Reduced plasma ascorbic acid and red cell glutathione contents in sickle cell disease—A preliminary report

Glutathione and ascorbic acid in erythrocytes are suggested to be essential in the detoxification of superoxide radicals and hydrogen peroxide formed during red cell metabolism. In sickle cell patients who are more prone to haemolysis have greater propensity for the formation of superoxide radical and hydrogen peroxide. In the present study conducted on sickle cell patients provide evidence for the presence of reduced levels of both ascorbic acid and glutathione in the red cells. This may seem to suggest that vitamin C supplementation may help such patients who are prone to haemolysis.     

Haemoglobin A1c or Glycated Albumin for Diagnosis and Monitoring Diabetes: An African Perspective

Diabetes mellitus (DM) has reached epidemic proportions across the globe with the largest increases seen in sub-Saharan Africa. Those that are diagnosed are largely poorly controlled. This review summarizes the limitations of the use of glycated haemoglobin (HBA1c) in Africa and current knowledge on the utility of glycated albumin and fructosamine in African patients. The diagnosis and monitoring of DM in African patients may be compromised by associated conditions like sickle cell anaemia, chronic kidney disease and HIV infection. Glycated albumin reflects short term glycaemia and is not affected by many conditions that alter HbA1c. It can be measured enzymatically, and this review discusses methods for analysis, and discusses the advantages and limitations in specific situations with an emphasis on conditions that also affect HbA1c.     

Hematological Parameters and RBC TBARS Level of Q 10 Supplemented Tribal Sickle Cell Patients: A Hospital Based Study

The study has been undertaken as number of sickle cell patients in Chhattisgarh tribal population is 23.7 %. The Co enzyme Q10 is a strong antioxidant and energy producing compound. The patients were divided into three groups group A homozygous (SS), group B heterozygous (AS) and group C controls for TBARS study. The age group is 10–55 years and 200 mg of CoQ10 was given to A and B groups. The hematological parameters, C reactive protein as well as RBC TBARS level were performed by usual and standard techniques. The results were obtained as 25.37 % increased RBC level in group A and 23.24 % in group B. The increased hemoglobin level was observed as 16.73 % in group A and 10.7 % in group B. In case of WBC it was observed increased 24.38 % in group A and 12.0 % in group B. C-reactive protein was observed 7.8 times decreased in group A and 1.54 times in group B. The RBC TBARS level was also found decreased 48 % in group A and 51 % in group B as compared to group C. During the supplementation of coenzyme Q10 the pain caused by vaso-occlusive events has reduced. This significant increase in hematological parameters as well as decreased C-reactive protein and TBARS level suggest that the Q10 should be included in the diet of sickle cell patients.     

Acalculous gallbladder distension in a young child due to HAV infection: Diagnostic dilemma

Gall bladder distension with acute viral acalculous cholecystitis is a rare event in pediatric cases with a high incidence of perforation, gallbladder necrosis and mortality. We report a two and a half year old female child presenting with fever, vomiting, pain abdomen, mild hepatosplenomegaly and tenderness in right hypochondrium. Laboratory investigations revealed hyperbilirubinemia and elevated alkaline phosphatase, but there was no evidence of bacterial or parasitic infection. Serology for viral hepatitis suggested acute Hepatitis A infection. Ultrasonographically, distended inflamed gallbladder without calculous was observed. Finally acute acalculous cholecystitis due to Hepatitis A virus was diagnosed and the child responded to the conservative management.     

Bardet–Biedl Syndrome: A Rare Cause of Chronic Kidney Disease

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, postaxial polydactyly, central obesity, and renal involvement. Renal failure is the commonest cause of death. We report a case of BBS with chronic kidney disease (CKD) at younger age (17 year) from India. This diagnosis should be considered in patients with renal disease and the characteristic phenotype of retinitis pigmentosa, postaxial polydactyly and central obesity. These patients should undergo regular monitoring of renal function test to early diagnosis and treatment of CKD to prevent morbidity and mortality. Renal transplantation is a viable option of renal replacement therapy in these patients. These findings are valuable for comparing phenotype of BBS patients with CKD from various national and international centers.     

Platelet satellitism in a trauma patient

Platelet satellitism (PS) is a rare phenomenon observed in blood smears obtained from blood anticoagulated with EDTA. It is characterised by platelet rosetting around polymorphonuclear neutrophils and in rare cases around other blood cells. PS is a rare cause of pseudothrombocytopenia. References about the phenomenon of PS in medical literature are few. In this report we describe a case of PS fortunately noticed in one trauma patient. Furthermore, we discuss the possible pathophysiological mechanisms of PS proposed in the literature. To our knowledge this is the first case of PS reported in Croatia.     

中国稀土出口配额和关税制度的调整策略——以目前的稀土案为背景

中国对稀土出口的管理和控制主要通过出口税和出口配额等政策来实施的,这些政策的实施确实在一定程度上有效地限制了稀土的出口,提升了稀土的价格,但也招致了西方国家的寎诟。2012年发生的稀土案使得稀土出口的关税和配额政策成为了诉讼的焦点。此次稀土案对中国很不利,应做好关税和配额政策调整改变的准备。     

论竞争情报在企业品牌管理中的应用及其案例

在简述了品牌竞争内涵和作用的基础上，探讨了品牌竞争情报的特点，搜集和分析方法及其应用要求，并结合玉溪红塔山香烟品牌的竞争情报活动实践，给出了一个买际的案例。     

基于RBF神经网络的稀土萃取组分含量软测量方法

针对稀土萃取分离过程元素组分含量在线检测的难题,提出基于递阶遗传算法的RBF神经网络软测量方法,并开展所提软测量方法在某公司组分含量监测的应用实验研究,结果表明所提出的软测量方法是可行、有效的,能较好地解决稀土萃取过程中组分含量的在线监测。     

Hypocalcemia Presenting as Life Threatening Torsades de Pointes with Prolongation of QTc Interval

Torsades de pointes with prolonged QTc interval is a form of ventricular tachycardia. Many predisposing factors have been identified and hypocalcemia is among the rare ones. Our case illustrates that though rare, hypocalcemia might manifest as torsades de pointes with prolongation of QTc interval. Early diagnosis and management of dyselectrolytemia can prevent these patients from catastrophic torsades de pointes.     

Filaria associated clinical manifestations in children in an endemic area and morbidity control by immunomonitoring and optimal DEC therapy: Sevagram experience

Lymphatic filariasis is a major public health problem in India with 412 million people living in bancroftian endemic areas and is a major cause of clinical morbidity. Twenty million people are reported to suffer from chronic disease manifestations such as lymphoedema, hydrocele or elephantiasis. At least twice the number have been shown to suffer from acute and occult filarial infections in an endemic area without diagnosis. Due to non-availability of suitable diagnostic test for confirming filaria aetiology other than parasitological examination, no significant study on filariasis in children has been reported earlier. Studies in our laboratory for more than a decade showed usefulness of microfilarial excretory-secretory antigen in confirming filarial aetiology in acute and occult infections in adults as well as in children. This study reports acute and atypical manifestations such as lymphadenopathy, asthmatic bronchitis, pulmonary eosinophilia, mono-arthritis, recurrent URI, pneumonia, nutritional anemia, pain in abdomen etc. in children living in filaria endemic area having no microfilaraemia but showing filaria aetiology by immunomonitoring for the presence of antibody or antigen and responding to optimal DEC therapy.