• Asian Pacific Journal of Cancer Prevention
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• 제17권1호
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• pp.369-372
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• 2016

Background: Acute myeloid leukemia is an acquired clonal heterogeneous stem cell disorder. Hence, various parameters are sought out to categorize this disease into subtypes, so that as a consequence specific treatment modalities can be offered. Conventionally, the practically used method for classification utilizes French American British (FAB) criteria based on morphology and cytochemistry. The aim of present study was to determine the current spectrum of AML sub types in patients in Karachi. Materials and Methods: This single centre cross sectional study was conducted at Liaquat National Hospital, Karachi, extending from January 2010 to December 2014. Data were retrieved from archives were analyzed with SPSS version 22. Results: A total of 125 patients were diagnosed at our institution with de novo AML during five years period, 76 males and 49 females. Median age was 34.5 years. AML-M1 was the predominant FAB subtype (23.2%) followed by M2 (18.4%), M3 and M4 (16% each), M0 (14.4%), M5 (7.2%), M6 (3.2%) and M7 (1.6%). Conclusions: AML in Pakistani patients is seen in a relatively young population. The most common FAB subtype observed in our study was acute myeloblastic leukemia, without maturation (M1).

• Clinical and Experimental Pediatrics
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• 제57권1호
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• pp.46-49
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• 2014

CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choanae, growth retardation, genital hypoplasia, and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene, located on chromosome 8q12.1, causes CHARGE syndrome. The CHD7 protein is an adenosine triphosphate (ATP)-dependent chromatin remodeling protein. A total of 67% of patients clinically diagnosed with CHARGE syndrome have CHD7 mutations. Five hundred twenty-eight pathogenic and unique CHD7 alterations have been identified so far. We describe a patient with a CHARGE syndrome diagnosis who carried a novel de novo mutation, a c.3896T>C (p. leu1299Pro) missense mutation, in the CHD7 gene. This finding will provide more information for genetic counseling and expand our understanding of the pathogenesis and development of CHARGE syndrome.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.29-31
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• 2016

Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures. Here, we describe the case of a patient with GLUT-1 deficiency who developed infantile spasms and showed delayed development at 6 months of age. She had intractable epilepsy despite receiving aggressive antiepileptic drug therapy, and underwent a metabolic workup. Cerebrospinal fluid (CSF) examination showed CSF-glucose-to-blood-glucose ratio of 0.38, with a normal lactate level. Bidirectional sequencing of SLC2A1 identified a missense mutation (c.1198C>T) at codon 400 (p.Arg400Cys) of exon 9.

• 한국식품영양과학회지
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• 제21권5호
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• pp.580-593
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• 1992

Cholesterol have many essential functions as a component of cellular and subcellular membranes, metabolic precursor of bile acids and steroid hormones, and obligatory part of the metabolic systems involved in DNA synthesis and cell division. These essential funtions demand a continuous and appropriate supply of cholesterol to the tissues. Body cholesterol pool is maintained by the balance of acquirement from diets, de novo synthesis, and excretion either as bile acids or neutral steroids. In these metabolic process, cholesterol biosynthesis is controlled by the change in the activity of 3-hydroxy-3methylglutaryl coenzyme A (HMG-CoA) reductase. Under most physiological or nutritional situations, the activity of this enzyme is adroitly regulated to maintain tissue cholesterol balance. Excess cholesterol accumulation in the cells induces the decrease in the number of LDL-receptor, followed by the increase in the level of serum LDL-cholesterol. Increase in the level of serum cholesterol appears to be an important determinant for the incidence of the coronary heart disease. Dietary intervention may be helpful in alleviating an increase in the level of serum cholesterol or body cholesterol pool.

• Asian Pacific Journal of Cancer Prevention
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• 제14권9호
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• pp.5341-5344
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• 2013

Objectives: To explore the relationships between age, cytogenetic subgroups, molecular markers, and cells with leukemic aberrant immunophenotype in patients with acute myeloid leukemia (AML). Methods: In this study, we evaluated the correlations between age, cytogenetic subgroups (normal, balanced and unbalance karyotype), molecular mutations (NPM1, FLT3-ITD, and CEBPA mutations) and marrow leukemia cells (LC) identified by flow cytometry in 256 patients with de novo AML. Results: From age group 10-19 years to age group ${\geq}60$ years, the percentage of LC decreased from $67.0{\pm}18.4%$ to $49.0{\pm}25.1%$ (F=2.353, P=0.041). LC percentage was higher in patients with balanced karyotypes ($65.7{\pm}22.4%$), than those with unbalanced karyotypes ($46.0{\pm}26.6%$) (u=3.444, P=0.001) or a normal karyotype ($49.9{\pm}22.1%$) (u=5.093, P<0.001). Patients with FLT3-ITD ($64.3{\pm}19.5%$) had higher LC percentages compared with those without ($54.2{\pm}24.3%$) (u=2.794, P=0.007). Conclusions: Associations between age, cytogenetics, molecular markers, and marrow leukemia cells may offer beneficial information to understand the biology and pathogenesis of AML.

• 한국식물병리학회지
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• 제11권1호
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• pp.53-60
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• 1995

Inoculation with the compatible strain Ds 1 of Xanthomonas campestris pv. vesicatoria caused brownish ad water-soaked lesions, but incompatible strain Bv5-4a produced hypersensitive symptoms with local necrosis on tomato (cv. Kwangyang) leaves. Bacterial populations of the compatible strains Ds 1 propagated more greatly than the incompatible strain Bv5-4a at the frist onset, but no differences were observed 5 days after inoculation. The bacterial infection induced the synthesis and accumulation of soluble proteins in tomato leaves, especially in the incompatible interaction. Native-polyacrylamide gel electrophoresis distinguished the soluble proteins in the tomato leaves infected by the compatible or incompatible strains. A protein of low molecular weight occurred only in the incompatible interaction. Some pathogenesis-related (PR) proteins, especially the 15, 18, 23, 26 and 54 kDa proteins, were detected only in the infected tomato leaves. In the two-dimensional electrophoresis, some proteins with different molecular weights (Mr. 21∼29 kDa) and the pI 8∼9 appeared more distinctly only in the incompatible interaction. These data suggest that the de novo synthesis of some PR proteins in tomato may be significant in defense against X. c. pv. vesicatoria.

• Molecules and Cells
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• 제21권3호
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• pp.330-336
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• 2006

Since its identification in 1989, hepatitis C virus has been the subject of extensive research. The biology of the virus and the development of antiviral drugs are closely related. The RNA polymerase activity of nonstructural protein 5B was first demonstrated in 1996. NS5B is believed to localize to the perinuclear region, forming a replicase complex with other viral proteins. It has a typical polymerase structure with thumb, palm, and finger domains encircling the active site. A de novo replication initiation mechanism has been suggested. To date, many small molecule inhibitors are known including nucleoside analogues, non-nucleoside analogues, and pyrophosphate mimics. NS5B interacts with other viral proteins such as core, NS3, 4A, 4B, and 5A. The helicase activity of NS3 seems necessary for RNA strand unwinding during replication, with other nonstructural proteins performing modulatory roles. Cellular proteins interacting with NS5B include VAMP-associated proteins, heIF4AII, hPLIC1, nucleolin, PRK2, ${\alpha}$-actinin, and p68 helicase. The interactions of NS5B with these proteins might play roles in cellular trafficking, signal transduction, and RNA polymerization, as well as the regulation of replication/translation processes.

• Molecules and Cells
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• 제23권2호
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• pp.239-245
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• 2007

DnaK is a major antigen in Streptococcus pneumoniae, and is induced by a minor shift in temperature (30 to $37^{\circ}C$) but not by ethanol shock. Although HrcA in the presence of $Ca^{{+}{+}}$ represses the expression of both groEL and hrcA, the control of transcription of the dnaK operon is not completely understood. In this study, the dnaK operon of S. pneumoniae (5' hrcA-grpE-dnaK-dnaJ) was cloned and analyzed. It contains large intergenic regions in grpE/dnaK and dnaK/dnaJ. Pulse labeling with [$^{35}S$]-methionine and immunoblot analyses revealed the presence of higher levels of DnaK than of HrcA even in the presence of $Ca^{{+}{+}}$ after heat shock suggesting that $Ca^{{+}{+}}$ differentially regulates the heat shock responses of hrcA and dnaK. By blocking de novo mRNA synthesis with rifampin it was shown that neither the hrcA nor the groEL transcripts were stabilized by heat shock even though dnaK transcripts were stabilized. We conclude that S. pneumoniae uses fine regulation of the transcription of the individual genes of the tetracistronic dnaK operon to cope with the various stresses experienced during infections.

• Animal cells and systems
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• 제4권2호
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• pp.145-150
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• 2000

Retinoic acid (RA) evokes pattern duplication in the regenerating salamander limb. Interestingly, it also enhances dedifferentiation in the regenerate by the morphological, histological and biochemical criteria. To examine whether there is any correlation between the RA-evoked pattern duplication and de novo protein synthetic profile in the regenerating salamander limb, especially during dedifferentiation, we analyzed stage-specific protein synthesis pattern in the normal and RA-treated regenerating limbs by metabolic labeling followed by two-dimensional gel electrophoresis. In the regenerating limbs without RA treatment, a few hundred kinds of proteins were found to be synthesized at the stage of wound healing and the total number of protein synthesized increased greatly as regeneration proceeded. The same trend was also observed in the RA-treated regenerating limbs. Interestingly, some protein spots were noted to be either newly synthesized or highly expressed by the RA treatment especially at the stage of dedifferentiation. The results shows that the enhancement of dedifferentiation state after the RA treatment correlates well with the protein synthesis profile, and suggest that those proteins are important for the RA-evoked pattern duplication in the regenerating limbs of salamander.

• Journal of Korean Neurosurgical Society
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• 제47권1호
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• pp.55-57
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• 2010

Ossification of the posterior longitudinal ligament (OPLL) in the thoracic spine is rare, even in the Far East. A 45-year-old female presented with a 4month history of progressive motor weakness in the lower extremities, numbness below the midthoracic area, and spastic gait disturbance. Neuroradiological examinations revealed massive OPLLs at the T4-T6 levels with severe anterior compression of the spinal cord. Anterior decompressive corpectomies with bone grafts were performed from T4 to T6 using a trans-thoracic approach. After surgery, the patient made an uneventful recovery. However, eleven years after surgery, the patient developed recurrent lower extremity weakness and spastic gait disturbance. De novo OPLLs at the C6-T2 levels were responsible for the severe spinal cord compression on this occasion. After second surgery, paralysis in both legs was resolved. We present a rare case of late cervicothoracic OPLL in a patient surgically treated for thoracic OPLL.