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Mishra, Kirtisudha,Singla, Shilpy,Sharma, Suvasini,Saxena, Renu,Batra, Vineeta Vijay The Korean Pediatric Society 2014 Clinical and Experimental Pediatrics (CEP) Vol.57 No.2
Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with fever, pancytopenia, hepatosplenomegaly, and erythema nodosum. Considering that cutaneous hypopigmentation was a common feature between the brothers, genetic analysis for Griscelli syndrome was performed. As the elder sibling had died, mutation analysis was only performed on the younger sibling, which revealed a novel homozygous mutation in the RAB27A gene on chromosome 15 showing a single-base substitution (c.136T>A p.F46I). Both parents were heterozygous for the same mutation. This confirmed the diagnosis of GS2 in the accelerated phase in both siblings. The atypical features of GS2 in these cases are a novel mutation, isolated neurological involvement in one sibling, association with erythema nodosum, and 2 distinct clinical presentations in siblings with the same genetic mutation.
Kirtisudha Mishra,Shilpy Singla,Suvasini Sharma,Renu Saxena,Vineeta Vijay Batra 대한소아청소년과학회 2014 Clinical and Experimental Pediatrics (CEP) Vol.57 No.2
Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27Agene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocyticlymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elderbrother presented with a purely neurological picture, whereas the younger one presented with fever,pancytopenia, hepatosplenomegaly, and erythema nodosum. Considering that cutaneous hypopigmentationwas a common feature between the brothers, genetic analysis for Griscelli syndrome wasperformed. As the elder sibling had died, mutation analysis was only performed on the younger sibling,which revealed a novel homozygous mutation in the RAB27A gene on chromosome 15 showing asingle-base substitution (c.136T>A p.F46I). Both parents were heterozygous for the same mutation. This confirmed the diagnosis of GS2 in the accelerated phase in both siblings. The atypical features ofGS2 in these cases are a novel mutation, isolated neurological involvement in one sibling, associationwith erythema nodosum, and 2 distinct clinical presentations in siblings with the same genetic mutation.
Minhas, Sachin,Bhalla, Sunita,Shokeen, Yogender,Jauhri, Mayank,Saxena, Renu,Verma, Ishwar Chandra,Aggarwal, Shyam Asian Pacific Journal of Cancer Prevention 2014 Asian Pacific journal of cancer prevention Vol.15 No.5
Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is an important protein involved in the regulation of the immune system. The +49 G/A polymorphism is the only genetic variation in the CTLA-4 gene that causes an amino acid change in the resulting protein. It is therefore the most extensively studied polymorphism among all CTLA-4 genetic variants and contributions to increasing the likelihood of developing cancer are well known in various populations, especially Asians. However, there have hiterto been no data with respect to the effect of this polymorphism on breast cancer susceptibility in our North Indian population. We therefore assayed genomic DNA of 250 breast cancer subjects and an equal number of age-, sex- and ethnicity-matched healthy controls for the CTLA-4 +49 G/A polymorphism but no significant differences in either the gene or allele frequency were found. Thus the CTLA-4 +49 G/A polymorphism may be associated with breast cancer in other Asians, but it appears to have no such effect in North Indians. The study also highlights the importance of conducting genetic association studies in different ethnic populations.
Genotypic influence of a-deletions on the phenotype of Indian sickle cell anemia patients
Sanjay Pandey,Sweta Pandey,Rahasya Mani Mishra,Monica Sharma,Renu Saxena 대한혈액학회 2011 Blood Research Vol.46 No.3
Background :Some reports have shown that co-inheritance of a-thalassemia and sickle cell disease improves hematological parameters and results in a relatively mild clinical picture for patients; however, the exact molecular basis and clinical significance of the interaction between a-thalassemia and sickle cell disease in India has not yet been described. There is little agreement on the clinical effects of a-thalassemia on the phenotype of sickle cell disease. Methods :Complete blood count and red cell indices were measured by an automated cell analyzer. Quantitative assessment of hemoglobin variants HbF, HbA, HbA2, and HbS was performed by high performance liquid chromatography (HPLC). DNA extraction was performed using the phenol-chloroform method, and molecular study for common a-deletions was done by gap-PCR. Results :Out of 60 sickle cell anemia patients, the a-thalassemia genotype was found in 18 patients. Three patients had the triplicated a-genotype (Anti a-3.7 kb), and the remaining patients did not have a-deletions. This study indicates that patients with co-existing a-thalassemia and sickle cell disease had a mild phenotype, significantly improved hematological parameters, and fewer blood transfusions than the patients with sickle cell anemia without co-existing a-deletions. Conclusion :Co-existence of a-thalassemia and sickle cell anemia has significant effects on the phenotype of Indian sickle cell patients.
Rahul Kumar Sharma,Abhishek Purohit,Venkatesan Somasundaram,Pravas Chandra Mishra,Mrinalini Kotru,Ravi Ranjan,Sunil Kumar,Sudha Sazawal,Hara Prasad Pati,Seema Tyagi,Renu Saxena 대한혈액학회 2014 Blood Research Vol.49 No.4
Background Aberrant myeloid antigen (MA) co-expression and high expression of CD34 antigen on the blasts of acute lymphoblastic leukemia (ALL) patients are independently reported to have a role in pathogenesis and prognosis. This study was conducted to determine whether these two parameters are related. Methods A total of 204 cases of ALL were included in an analysis of blast immunophenotypic data. CD34 expression was categorized as low when less than 50% of blasts were CD34-positive (CD34low) and as high when 50% or more were CD34-positive (CD34high). Results Of 204 cases of ALL, 163 and 41 were of B-cell origin (B-ALL) and T-cell origin (T-ALL), respectively. Of all cases, 132 (64.7%) showed co-expression of MA and among these, 101 (76.51%) were CD34high, while the remaining 31 (23.48%) were CD34low. Of 72 cases without MA co-expression, 25 (34.72%) were CD34high and 47 (67.25%) were CD34low. Furthermore, of 163 cases of B-ALL, 111 showed co-expression of MA and 84 of these were CD34high. Of 52 cases of B-ALL without MA expression, 22 were CD34high. Among 41 cases of T-ALL, 21 co-expressed MA, 17 of which were CD34high. Moreover, all 20 cases of T-ALL without co-expression of MA were CD34low. These differences were statistically significant. Conclusion We observed a strong correlation between aberrant MA expression and CD34high expression on the blasts of ALL. We hypothesize that these different patient subsets may represent unique prognostic characteristics.
Rahul Kumar Sharma,Abhishek Purohit,Venkatesan Somasundaram,Pravas Chandra Mishra,Mrinalini Kotru,Ravi Ranjan,Sunil Kumar,Sudha Sazawal,Hara Prasad Pati,Seema Tyagi,Renu Saxena 대한혈액학회 2014 Blood Research Vol.49 No.4
Background Aberrant myeloid antigen (MA) co-expression and high expression of CD34 antigen on the blasts of acute lymphoblastic leukemia (ALL) patients are independently reported to have a role in pathogenesis and prognosis. This study was conducted to determine whether these two parameters are related. Methods A total of 204 cases of ALL were included in an analysis of blast immunophenotypic data. CD34 expression was categorized as low when less than 50% of blasts were CD34-positive (CD34low) and as high when 50% or more were CD34-positive (CD34high). Results Of 204 cases of ALL, 163 and 41 were of B-cell origin (B-ALL) and T-cell origin (T-ALL), respectively. Of all cases, 132 (64.7%) showed co-expression of MA and among these, 101 (76.51%) were CD34high, while the remaining 31 (23.48%) were CD34low. Of 72 cases without MA co-expression, 25 (34.72%) were CD34high and 47 (67.25%) were CD34low. Furthermore, of 163 cases of B-ALL, 111 showed co-expression of MA and 84 of these were CD34high. Of 52 cases of B-ALL without MA expression, 22 were CD34high. Among 41 cases of T-ALL, 21 co-expressed MA, 17 of which were CD34high. Moreover, all 20 cases of T-ALL without co-expression of MA were CD34low. These differences were statistically significant. Conclusion We observed a strong correlation between aberrant MA expression and CD34high expression on the blasts of ALL. We hypothesize that these different patient subsets may represent unique prognostic characteristics.