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Bajaj, Naresh
- An Unusual Organism as a Cause of Neonatal Suppurative Parotitis
Abstract Views :245 |
PDF Views:141
Authors
Affiliations
1 Department of Pediatrics, Gandhi Memorial Hospital, Shyam Shah Medical College, APS University, Rewa, MP, IN
1 Department of Pediatrics, Gandhi Memorial Hospital, Shyam Shah Medical College, APS University, Rewa, MP, IN
Source
International Journal of Medical and Dental Sciences, Vol 4, No 1 (2015), Pagination: 666-668Abstract
Neonatal suppurative parotitis(NSP) is an uncommon illness in the neonate. Here, to the best of our knowledge we describe first case of newborn who developed NSP due to acenatobacter species and was treated successfully with antibiotics.Keywords
Neonate, Suppurative Parotitis, Gram Negative Bacteria, Bilateral Parotid Swelling, Acenatobacter.Full Text
- Role of SLC40A1 R-178G Gene Mutation on Pathophysiology of Iron Deficient Sickle Cell Anemia Patients
Abstract Views :94 |
PDF Views:0
Materials & Methods: A total of 140 iron-deficient sickle syndrome patients were recruited for the study with an equal number for controls. The sickle cell sub-type was diagnosed by a cation exchange high performance liquid chromatography (HPLC) and complete blood count analysis was done by automated hematoanalyzer. Screening of iron deficiency was done by serum ferritin analysis using ELISA method. Genomic DNA was isolated from peripheral blood by kit method and DNA quantification was done by Nano drop analytical Software system. SLC40A1 R178G genotype analysis was performed by PCR-RFLP method using HpyAV restriction enzyme.
Results: Among the Sickle cell disease (SCD) patients, 17 were heterozygous and 09 were homozygous for SLC40A1(R178G) mutation; while 13 controls were heterozygous and 5 patients were homozygous for SLC40A1(R178G) mutation. We reported the significant elevation of serum ferritin and hemoglobin level in SLC40A1(R178G) mutation while a decrease in the ESR and CRP levels were observed.
Conclusion: The findings of the study suggested high impact of SLC40A1(R178G) mutation in pathophysiology of iron deficient SCD and shows positive correlation. It may act as the predictor of disease severity. Detection of this mutation in iron-deficient SCD patients is useful in treatment decision.
Based on this finding, clinicians can be more confident about iron status in SCD patients. Data from this research can be used to understand the status of iron overload in mutant versus non-mutant conditions. The Data of the study provides a genotype–phenotype correlation of SLC40A1 (R178G) mutation in iron-deficient SCD patients.
Authors
Sweta Pandey
1,
Shalini Kunder
2,
Naresh Bajaj
1,
Sudhakar Dwivedi
3,
Vibha Singh
4,
Sanjay Kumar Pandey
5
Affiliations
1 Department of Pediatrics, Shyam Shah Medical College, Rewa, MP, IN
2 Department of Zoology, Govt. Girl PG College, MP, IN
3 Department. of Anesthesiology, Shyam Shah Medical College, Rewa, MP, IN
4 Department of Biotechnology, Guru Ghasidas University, Bilashpur (CG), IN
5 Multidisciplinary Research Unit, Shyam Shah Medical College, Rewa, MP, IN
1 Department of Pediatrics, Shyam Shah Medical College, Rewa, MP, IN
2 Department of Zoology, Govt. Girl PG College, MP, IN
3 Department. of Anesthesiology, Shyam Shah Medical College, Rewa, MP, IN
4 Department of Biotechnology, Guru Ghasidas University, Bilashpur (CG), IN
5 Multidisciplinary Research Unit, Shyam Shah Medical College, Rewa, MP, IN
Source
The Indian Practitioner, Vol 74, No 12 (2021), Pagination: 18-22Abstract
Introduction: Solute carrier family 40 member 1(SLC40A1) is a protein coding gene. The protein encoded by this gene is a cell membrane protein that plays a key role in the majority of iron transportation by balancing cellular and systemic iron levels. Defects in this gene are a cause of hemochromatosis type 4 (HFE4) and Hemochromatosis type 1 diseases. Ironoverload and a non-responsive phenotype are also associated with the hereditary variants of iron deficiency anemia. Based on this, it was proposed that the presence of this mutation could influence iron absorption and provide protection against the severity of iron deficiency in sickle syndrome. SLC40A1 gene mutations may have a useful clinical result in the severity of the disease due to their diverse role in iron metabolism.Materials & Methods: A total of 140 iron-deficient sickle syndrome patients were recruited for the study with an equal number for controls. The sickle cell sub-type was diagnosed by a cation exchange high performance liquid chromatography (HPLC) and complete blood count analysis was done by automated hematoanalyzer. Screening of iron deficiency was done by serum ferritin analysis using ELISA method. Genomic DNA was isolated from peripheral blood by kit method and DNA quantification was done by Nano drop analytical Software system. SLC40A1 R178G genotype analysis was performed by PCR-RFLP method using HpyAV restriction enzyme.
Results: Among the Sickle cell disease (SCD) patients, 17 were heterozygous and 09 were homozygous for SLC40A1(R178G) mutation; while 13 controls were heterozygous and 5 patients were homozygous for SLC40A1(R178G) mutation. We reported the significant elevation of serum ferritin and hemoglobin level in SLC40A1(R178G) mutation while a decrease in the ESR and CRP levels were observed.
Conclusion: The findings of the study suggested high impact of SLC40A1(R178G) mutation in pathophysiology of iron deficient SCD and shows positive correlation. It may act as the predictor of disease severity. Detection of this mutation in iron-deficient SCD patients is useful in treatment decision.
Based on this finding, clinicians can be more confident about iron status in SCD patients. Data from this research can be used to understand the status of iron overload in mutant versus non-mutant conditions. The Data of the study provides a genotype–phenotype correlation of SLC40A1 (R178G) mutation in iron-deficient SCD patients.
Keywords
PCR, RFLP, SCD, IDA, SLC40A1, SNP
References
- Mohanty D, Mukherjee MB, Colah RB, Wadia M, Ghosh K, Chottray GP, et al. Iron deficiency anaemia in sickle cell disorders in India. Indian J Med Res.2008; 127:366-9 2. Das PK, Sarangi A, Satapathy M, Palit SK. Iron in sickle cell disease. J Assoc Physicians India. 1990;38:847-9.
- Vichinsky E, Kleman K, Emburey S, Lubin B. The diagnosis of iron deficiency anemia in sickle cell disease. Blood. 1981;58:963-8.
- Okeahialam TC, Obi GO. Iron deficiency in sickle cell anemia in Nigerian children. Ann Trop Paediatr. 1982;2:89-92.
- King L, Reid M, Forrester TE. Iron deficiency anemia in Jamaican children, aged 1-5 years, with sickle cell disease. West Indian Med J. 2005;54:292-6.
- Fernandes A, Preza GC, Phung Y, De Domenico I, Kaplan J, Ganz T, Nemeth E. The molecular basis of hepcidin-resistant hereditary hemochromatosis. Blood. 2009;114(2): 437-43.
- Speletas M, Kioumi A, Loules G, Hytiroglou P, Tsitouridis J, Christakis J, Germenis AE. Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV. Blood Cells Mol Dis.2008;40(3):353-9.
- Zhang W, Xu A, Li Y, Zhao S, Zhou D, Wu L, Huang J. A novel SLC40A1 p.Y333H mutation with gain of function of ferroportin: A recurrent cause of haemochromatosis in China. Liver Int.2019;39(6):1120-1127.
- Pietrangelo A. The ferroportin disease. Blood Cells Mol Dis.2004;32(1):131-138.
- Agarwal S, Sankar V, Tewari D, Pradhan M. Ferroportin (SLC40A1) gene in thalassemic patients of Indian descent. Clinical Genetics.2006;70(1):86-87.
- Ka C, Guellec J, Pepermans X, Kannengiesser C, Ged C, Wuyts W, Le Gac G. The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism. Haematologica.2018;103(11):1796-1805.
- Kotze MJ, van Velden DP, van Rensburg SJ, Erasmus R. Pathogenic mechanisms underlying iron deficiency and iron overload: new insights for clinical application. EJIFCC.2009;20(2):108-123.
- Waterfall CM, Cobb BD. Single tube genotyping of sickle cell anaemia using PCR-based SNP analysis. Nucleic Acids Res.2001;29(23):E119.
- Speletas M, Onoufriadis E, Kioumi A, Germenis AE.SLC40A1- R178G mutation and ferroportin disease. Journal of Hepatology. 2011;55(3):730-1
- Montosi G, Donovan A, Totaro A, Garuti C, Pignatti E, Cassanelli S,Pietrangelo A. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest.2001;108(4):619-623.
- Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, Heutink P. Amutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet.2001;28(3):213-214.