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Kaur, Parminder
- To Assess Hepatic Function (LFTs), Serum Iron and TIBC in Thalassemia Major Children
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Authors
Affiliations
1 Department of Pediatrics, Govt. Medical College Patiala, IN
2 Department Of Biochemistry, Govt. Medical College Patiala, IN
1 Department of Pediatrics, Govt. Medical College Patiala, IN
2 Department Of Biochemistry, Govt. Medical College Patiala, IN
Source
The Indian Practitioner, Vol 71, No 3 (2018), Pagination: 29-33Abstract
The present study is a type of case control study. The objective of the study is to determine liver function (LFTs), S.Iron and TIBC in 100 blood transfused, Beta Thalassemic children attending thalassemia unit, Rajindra Hospital, Patiala. Iron overload as suggested by increase in S. Iron and decreased TIBC levels leads to liver dysfunction manifested by deranged liver function tests in thalassemia major children.Keywords
Thalassemia, Hemoglobinopathies, TIBC.References
- Kremastinos DT, Tsiapras DP, Kostopoulou AG, Hamodraka ES, Chaidaroglou AS, Kapsali ED et al. NTpro BNP levels and diastolic dysfunction in beta-thalassaemia major patients. Eur J Heart Fail. 2007;9:531–6.
- Modell B, Khan M, Darlison M. Survival in beta-thalassaemia major in the UK: data from the UK Thalassaemia Register. Lancet. 2000;355:2051–2.
- Olivieri NF, Nathan DG, MacMillan JH, Wayne AS, Liu PP, McGee A, Martin M, Koren G, Cohen AR. Survival in medically treated patients with homozygous betathalassemia. N Engl J Med. 1994;331:574 –8.
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- Weatherall DJ, Clegg JB, Thalassaemia - a global public health problem. Nat Med 1996:2,847-9.
- Firkin F, Chesterman C, Penington D, Rush B. de Gruchy’s Clinical Hematology in Medical Practice. Blackwell, Australia. 1996; 5:137.
- Olivieri NF, Weatherall DJ. Recent progress in the Management of thalassaemia. HKJ Paediatr (New series) 1996; 1: 14-22.
- Higgs DR, Thein SL, Woods WG. The molecular pathology of Thalassaemia. In: Weatherall DJ, Clegg B, eds. The Thalassaemia syndromes. Oxford, England: Blackwell science, 2001;4:133- 91.
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- Hoffbrand AV, Cohen A, Hershko C. Role of deferiprone in chelation therapy for transfusion iron overload. Blood 2003; 102: 17- 24.
- Olivieri NF. The beta thalassaemias. N engl J Med 1999; 341: 99 - 109.
- Hershko C, Konijn AM, Link G. Iron chelators for thalassaemia. Br J Haematol 1998; 101: 399 - 406.
- Olivieri NF, Brittenham GM. Iron- chelating therapy and the treatment of thalassaemia. Blood 1997; 89: 739.
- Win LL, Ni H, Sin S, Naing Z. Extremely High Serum Ferritin Levels Associated With Abnormal Liver Function In Multi-Transfused Patients With Beta Thalassemia Major In Myanmar. The Internet Journal of Hematology. 2013;9: 5-8.
- Ragab SM, Safan MA, Sherif AS. Lipid profiles in β thalassemia children. Menoufia Med J 2014;27:67-72.
- Sultana N, Sadiya S, Rahman MH. Correlation between Serum bilirubin and serum ferritin level in thalassemia patients. Bangladesh. Med Biochem 2011;4(2):6-12
- Asif M, Manzor Z, Farooq MS, Kanwal A, Shaheen U, Munawar SH et al. Correlation between serum ferritin level and liver function tests in thalassemia patients receiving multiple blood transfussions. International Journal of Research in Medical Sciences. Asif M et al. Int J Res Med Sci. 2014;2(3): 988-94.
- Patne AB, Hisalkar PJ, Gaikwad SB, Patil SV. Alterations in antioxidant enzyme status with lipid peroxidationin β thalassemia major patients. Int. J of Pharm and Life Sci. 2012;3(10):1-4
- Saral N, Rathore M, Bohra VD, Gupta M. Diagnostic significance of Liver and Renal function tests (LFT&RFT) in Iron overload in patients with β Thalassemia major. International Journal of Clinical Biochemistry and Research 2015; 2(1):27-32.
- Shams S, Ashtiani MTH, Monajemzadeh M, Koochakzadeh L, Irani H, Jafari F et al. Evaluation of Serum Insulin, Glucose, Lipid Profile, and Liver Function in β-Thalassemia Major Patients and Their Correlation With Iron Overload. Lab Medicine 2010;41(8):486-9.
- Mohammad II, Al-Doski FS. Assessment of Liver Functions in Thalassemia. Tikrit Journal of Pharmaceutical sciences 2012;8(1):87-93.
- Al-Kataan MA, Al- Shakarchi SD. Changes of some Liver Functions Fests with Regular And Irregular Desferroxamine Therapy in Beta-Thalassemia Patients. Zanco J. Med. Sci.2010;14(1):166-9.
- Kurtoglu AU, Kurtoglu E, Temizkan AK. Effect of iron overload on endocrinopathies in patients with betathalassaemia major and intermedia. Endokrynol Pol. 2012;63(4):260-3
- Bandebuche S, Sagar V, Sontakke A. Serum total Calcium level in patients with Thalassemia. Int J Med Res Rev 2013;1(4):190-4.
- Hagag AA, El-Shanshory MR, El-Enein AAM. Parathyroid function in children with beta thalassemia and correlation with iron load. Adv Pediatr Res 2015;2(3):1-6.
- Trivedi DJ, Sagare A. Assessment of Iron Overload in Homozygous and Heterozygous Beta Thalassemic Children below 5 Years of Age. JKIMSU 2014;3(2):17-22.
- Neonatal Diabetes – A Case Report
Abstract Views :267 |
PDF Views:1
Authors
Affiliations
1 Dept. of Paediatrics, GMCH 32, Chandigarh, IN
2 Assam Medical College, Dibrugarh, IN
1 Dept. of Paediatrics, GMCH 32, Chandigarh, IN
2 Assam Medical College, Dibrugarh, IN
Source
The Indian Practitioner, Vol 71, No 8 (2018), Pagination: 32-34Abstract
Neonatal diabetes mellitus (NDM), defined as persistent hyperglycaemia occurring in the first six months of life, is a rare cause of hyperglycaemia. We report a case of a four-month-old girl child with diabetes presented in Diabetic ketoacidosis (DKA) with severe dehydration, respiratory distress and encephalopathy. The child gradually improved with insulin and fluid therapy. There have been various studies showing the incidence of neonatal diabetes to be around 0.5%. This rare incidence of the disease makes it important to consider neonatal diabetes as an important differential in case of any child presenting with severe dehydration, acidosis and encephalopathy, especially in age group less than 6 months, where the chances of getting it missed are high.Keywords
Neonatal Diabetes, DKA, Sulfonylureas, Subcutaneous Insulin, ABCC8, KCNJ11 Mutations, Transient Diabetes, Permanent Diabetes.References
- White, P.: Diabetes in Childhood and Adolescence, Philadelphia, 1932, Lea and Febiger. 230 The Journal of Pediatrics.
- Joslin, E. P., Root, –I. F., White, P., and Marble, A.: The Treatment of Diabetes Mellitus, Philadelphia, 1952, Lea and lebiger, pp. 666–668.
- John, Henry J.: Diabetes Mellitus in Children, J. PEDIAT. 35: 723, 1949.
- Engelson, Gunnar, and Zettcrqvist, Per: Congenital Diabetes Mellitus and Neonatal Pseudodiabetes Mellitus, Arch. Dis. Child. 32: 193, 1957.
- De Franco E, Flanagan SE, Houghton JAL, Lango Allen H, Mackay DJG, Temple IK, et al. The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet (London, England) 2015;386:957–963. doi: 10.1016/S0140–6736(15)60098– [PMC free article][PubMed] [Cross Ref]
- Iafusco D, Massa O, Pasquino B, Colombo C, Iughetti L, Bizzarri C, et al. Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births. Acta Diabetol. 2012;49:405–408. doi: 10.1007/s00592–011–0331–. [PMC free article] [PubMed] [Cross Ref]
- Slingerland AS, Shields BM, Flanagan SE, Bruining GJ, Noordam K, Gach A, et al. Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births. Diabetologia. 2009;52:1683–1685. doi: 10.1007/s00125–009–1416–6. [PMC free article] [PubMed] [Cross Ref]
- Ahn SY, Kim G–H, Yoo H–W. Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation. Korean J. Pediatr. 2015;58:309–312. doi:10.3345/kjp.2015.58.8.309. [PMC free article] [PubMed] [Cross Ref]
- Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, et al. A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet. 2006;15:1793–1800. doi: 10.1093/hmg/ddl101. [PubMed] [Cross Ref]
- Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, et al. Activating mutations in the gene encoding the ATP–sensitive potassium–channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med. 2004;350:1838–1849. doi: 10.1056/NEJMoa032922. [PubMed] [Cross Ref]
- Babenko AP, Polak M, Cavé H, Busiah K, Czernichow P, Scharfmann R, et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med. 2006;355:456–466. doi:10.1056/NEJMoa055068. [PubMed] [Cross Ref]
- Rubio–Cabezas O, Ellard S. Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options. Horm Res pædiatrics. 2013;80:137–146. doi: 10.1159/000354219. [PMC free article] [PubMed] [Cross Ref]
- Vaxillaire M, Dechaume A, Busiah K, Cavé H, Pereira S, Scharfmann R, et al. New ABCC8 mutations in relapsing neonatal diabetes and clinical features. Diabetes. 2007;56:1737–1741. doi: 10.2337/db06–1540. [PubMed] [Cross Ref]
- Rubio–Cabezas O, Hattersley AT, Njølstad PR, Mlynarski W, Ellard S, White N, et al. ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr. Diabetes. 2014; 15(Suppl 2):47–64. [PubMed]
- Wright NM, Metzer DL, Borowltz SM, Clarke WL. Permanent neonatal diabetes mellitus and pancreatic insufficiency resulting from congenital pancreatic agen–esis. Am J Dis Child 1993: 147: 607–690.
- Aynsley–Green A, Hawdon JM. Metabolic Disease. In: Textbook of Neonatology, Rennie JM, Roberton NRC (eds) 3rd edn. Edinburg: Churchill Livingstone 1999, pp. 939–956.
- Graves’ Disease In Patient With Down’s Syndrome – Not So Uncommon
Abstract Views :218 |
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Authors
Affiliations
1 Dept. of Paediatrics, GMCH 32, Chandigarh, IN
2 AMC, Dibrugarh, IN
1 Dept. of Paediatrics, GMCH 32, Chandigarh, IN
2 AMC, Dibrugarh, IN
Source
The Indian Practitioner, Vol 71, No 9 (2018), Pagination: 46-48Abstract
Down’s syndrome (DS) is one of the most common chromosomal disorders (one in 800 births) and the most common cause of mental retardation. It is well known that patients with Down’s syndrome have an increased prevalence of autoimmune disorders, affecting both endocrine and non-endocrine organs. The most common autoimmune disease in Down’s syndrome is related to the thyroid gland. Hyperthyroidism is also found at a higher-than-average rate in patients with DS, although only isolated cases have been reported. We here report a case of a 10-year-old female child showing a rare association between Graves’ and Down’s syndrome. The child had symptoms of anxiety, weight loss and swelling in neck. The symptoms gradually improved with methamizole.Keywords
Down’s Syndrome, Graves’ Diseases, Thyroid, Autoimmune Disease.References
- Hassold Tj, Jacobs PA (1984) Trisomy in man, Annu Rev Genet 18: 69-97
- Rohrer TR, Hennes P, Thon A, Dost A, Grabert M, et al. (2010). Down’s syndrome in diabetic patients ages < 20 years: an analysis of metabolic status, glycaemic control and autoimmunity in comparison with type 1 diabetes. Diabetologia 53:1070-1075.
- Fort P, Lifshitz F, Bellisario R, et al. Abnormalities of thyroid function in infants with Down syndrome. J Pediatr 1984;104:545–9.
- Pueschel SM, Pezzullo JC. Thyroid dysfunction in Down syndrome. Am J Dis Child 1985;139:636–9
- Gershwin ME, Crinella FM, Castles JJ, Trent JKT. Immune characteristics of Down’s syndrome. J MentDefic Res 1977;21 :237-49.
- De Luca F, corrias A, Salderno M, Wasniewska M, Gastaldi R, et al. (2010) Peculiarities of Graves’ disease in children and adolescent with Down’s syndrome. Eur J Endocrinol 162:591-595
- Wang S, Mao S, Zhao G, Wu H (2000) relationship between estrogen receptor and Graves’ disease, ZhonghuaWaiKeZaZhi 38:619-621
- Kisiel B, Bednarczuk t, Kostrzewa G, KosiA, ska J, MiAkiewicz P, et al. (2008) Polymorphism of the oestrogen receptor beta gene (ESR2) is associated with susceptibility of Graves’ disease. Clin Endocrinal (Oxf) 68: 429-434
- Goday- Arno A, Cerda- Esteva m, Flores – Le- Roux JA, Chillaron – Jordan JJ, Corretger JM, et al. (2009) Hyperthyroidism in a population with Down Syndrome (DS). ClinEndocrinol (Oxf) 71:110-114
- American Academy of Pediatrics, Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2001;107:442–9
- Kaguelidou F, Alberti C, Castanet M, Guitteny MA, Czernichow P, Leger J for the French Childhood Graves’ Disease Study Group. Predictors of autoimmune hyperthyroidism relapse in children after discontinuation of antithyroid drug treatment. J ClinEndocrinolMetab 2008; 93: 3817-26.
- Neonatal Hemochromatosis – A Case Report
Abstract Views :265 |
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Authors
Affiliations
1 Government Medical College & Hospital, Chandigarh, IN
2 Dept Of Neonatology, Government Medical College & Hospital, Chandigarh, IN
1 Government Medical College & Hospital, Chandigarh, IN
2 Dept Of Neonatology, Government Medical College & Hospital, Chandigarh, IN
Source
The Indian Practitioner, Vol 71, No 10 (2018), Pagination: 39-42Abstract
Neonatal hemochromatosis is a rare disease of iron metabolism, characterized by the excess accumulation of iron in the tissues. This occurs in utero and can lead to fetal demise or an infant who presents with advanced liver disease in the neonatal period. We hereby report a case of neonatal hemochromatosis in a 42 week infant who presented at birth with abnormal liver functions with conjugated hyperbilirubenemia, raised ferritin and abnormal imaging studies. The diagnoses of infection and metabolic errors were excluded before the confirmation of neonatal hemochromatosis was made. This diagnosis was confirmed by elevated ferritin levels and extra hepatic siderosis excluding the reticuloendothelial system. Anti-oxidant therapy was initiated with vitamins C and E and intravenous immunoglobulin. The baby demonstrated a positive response and was discharged home with outpatient follow up.Keywords
Neonatal Hemochromatosis, Acute Liver Failure, Neonate, S.ferritin, IVIG, Udiliv.References
- Knisely AS. Neonatal hemochromatosis. Adv Pediatr 1992;39:383-404
- Witzleben CL, Uri A. Perinatal hemochromatosis: entity or end result? Hum Pathol 1989:20:335-340
- Hardy L, Hansen J, Kushner JP, Knisely AS. Neonatal hemochromatosis: genetic analysis of transfemn-receptor, H-apoferritin, and L-apofemtin loci and of the HLA class I region. Am J Pathol i990;137: 149-1 53
- Knisely AS, O’Shea PA, Stocks JF, Dimmick JE. Oropharyngeal and upper respiratory mucosal gland siderosis in neonatal hemochromatosis: an approach to biopsy diagnosis. J Pediatr 1988;1 13:871 -874
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- Sigurdsson L, Reyes J, Kocoshis SA, Hansen TW, Rosh J, Knisely AS. Neonatal hemochromatosis: outcomes of pharmacologic and surgical therapies. J PediatrGastroenterolNutr. 1998;26(1):85-89.
- Silver MM, Beverly DW, Valberg LS, Cutz E, Phillips MJ, Shaheed WA. Perinatal hemochromatosis.Clinical, morphologic, and quantitative iron studies.Am J Pathol. 1987;128(3):538-554.
- Rodrigues F, Kallas M, Nash R, et al. Neonatal hemochromatosis— medical treatment vs. transplantation: the King’s experience. Liver Transpl. 2005;11(11):1417-1424.
- Flynn DM, Mohan N, McKiernan PJ, et al. Progress in the treatment and outcome for children with neonatal hemochromatosis. Arch Dis Child Fetal Neonatal Ed. 2003;88:F124-F127.
- Udell IW, Barshes NR, Voloyiannis T, et al. Neonatal hemochromatosis: radiographical and histological signs. Liver Transpl. 2005;11(8):998-1000.