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Source: Journal of the Association of Physicians of India
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Total 141 results found since Jan 2013.
Late Onset Pompe's Disease: Clinical, Pathological & amp;amp; Molecular Analysis of Two Adolescent Patients
CONCLUSION: Genetic diseases manifest as rare phenotype which in itself is a clinical puzzle. When rare disease present with a rare manifestation of itself, this pose a great diagnostic challenge. Pompe's disease is one of the very few inherited disorder which has definitive treatment- enzyme replacement therapy. Molecular characterization of the variant is absolutely necessary before initiating therapy. References Ausems MG, Verbiest J, Hermans MM, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999;7(6):713-716. Van der Beek NA,...
Source: Journal of the Association of Physicians of India - April 28, 2023 Category: General Medicine Authors: Arun Sree Parameswaran None Singh Lokesh Saini Divya Aggarwal Source Type: research
GIST (ILEAL) Revealed by Peculiar Paraneoplastic-myositis and Hypo-Thyroidism
CONCLUSION: Upto 10% dermato-myositis 5% poly-myositis can be paraneoplastic manifestation of underlying solid organ malignancy. overexpression of thyroid-hormone-inactivating type 3 iodothyronine deiodinase (D3) enzyme from GIST tumours often leads to hypothyroidism. References 1.Maynard MA, Marino-Enriquez A, Fletcher JA, et al. Thyroid hormone inactivation in gastrointestinal stromal tumors. N Engl J Med 2014;370:1327-1334. 2.Samimi M, Nseir A, Kerdraon R, et al. Tumeur stromale duodenale revelee par une dermatomyosite paranéoplasiqueStromal duodenal tumor revealed by paraneoplastic dermatomyositis. Gastroenterol Clin ...
Source: Journal of the Association of Physicians of India - April 28, 2023 Category: General Medicine Authors: Chirantan Mandal Pradeep Kumar Dutta Source Type: research
Late Onset Pompe's Disease: Clinical, Pathological & amp;amp; Molecular Analysis of Two Adolescent Patients
CONCLUSION: Genetic diseases manifest as rare phenotype which in itself is a clinical puzzle. When rare disease present with a rare manifestation of itself, this pose a great diagnostic challenge. Pompe's disease is one of the very few inherited disorder which has definitive treatment- enzyme replacement therapy. Molecular characterization of the variant is absolutely necessary before initiating therapy. References Ausems MG, Verbiest J, Hermans MM, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999;7(6):713-716. Van der Beek NA,...
Source: Journal of the Association of Physicians of India - April 28, 2023 Category: General Medicine Authors: Arun Sree Parameswaran None Singh Lokesh Saini Divya Aggarwal Source Type: research
GIST (ILEAL) Revealed by Peculiar Paraneoplastic-myositis and Hypo-Thyroidism
CONCLUSION: Upto 10% dermato-myositis 5% poly-myositis can be paraneoplastic manifestation of underlying solid organ malignancy. overexpression of thyroid-hormone-inactivating type 3 iodothyronine deiodinase (D3) enzyme from GIST tumours often leads to hypothyroidism. References 1.Maynard MA, Marino-Enriquez A, Fletcher JA, et al. Thyroid hormone inactivation in gastrointestinal stromal tumors. N Engl J Med 2014;370:1327-1334. 2.Samimi M, Nseir A, Kerdraon R, et al. Tumeur stromale duodenale revelee par une dermatomyosite paranéoplasiqueStromal duodenal tumor revealed by paraneoplastic dermatomyositis. Gastroenterol Clin ...
Source: Journal of the Association of Physicians of India - April 28, 2023 Category: General Medicine Authors: Chirantan Mandal Pradeep Kumar Dutta Source Type: research
Late Onset Pompe's Disease: Clinical, Pathological & amp;amp; Molecular Analysis of Two Adolescent Patients
CONCLUSION: Genetic diseases manifest as rare phenotype which in itself is a clinical puzzle. When rare disease present with a rare manifestation of itself, this pose a great diagnostic challenge. Pompe's disease is one of the very few inherited disorder which has definitive treatment- enzyme replacement therapy. Molecular characterization of the variant is absolutely necessary before initiating therapy. References Ausems MG, Verbiest J, Hermans MM, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999;7(6):713-716. Van der Beek NA,...
Source: Journal of the Association of Physicians of India - April 28, 2023 Category: General Medicine Authors: Arun Sree Parameswaran None Singh Lokesh Saini Divya Aggarwal Source Type: research
GIST (ILEAL) Revealed by Peculiar Paraneoplastic-myositis and Hypo-Thyroidism
CONCLUSION: Upto 10% dermato-myositis 5% poly-myositis can be paraneoplastic manifestation of underlying solid organ malignancy. overexpression of thyroid-hormone-inactivating type 3 iodothyronine deiodinase (D3) enzyme from GIST tumours often leads to hypothyroidism. References 1.Maynard MA, Marino-Enriquez A, Fletcher JA, et al. Thyroid hormone inactivation in gastrointestinal stromal tumors. N Engl J Med 2014;370:1327-1334. 2.Samimi M, Nseir A, Kerdraon R, et al. Tumeur stromale duodenale revelee par une dermatomyosite paranéoplasiqueStromal duodenal tumor revealed by paraneoplastic dermatomyositis. Gastroenterol Clin ...
Source: Journal of the Association of Physicians of India - April 28, 2023 Category: General Medicine Authors: Chirantan Mandal Pradeep Kumar Dutta Source Type: research
Late Onset Pompe's Disease: Clinical, Pathological & amp;amp; Molecular Analysis of Two Adolescent Patients
CONCLUSION: Genetic diseases manifest as rare phenotype which in itself is a clinical puzzle. When rare disease present with a rare manifestation of itself, this pose a great diagnostic challenge. Pompe's disease is one of the very few inherited disorder which has definitive treatment- enzyme replacement therapy. Molecular characterization of the variant is absolutely necessary before initiating therapy. References Ausems MG, Verbiest J, Hermans MM, et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999;7(6):713-716. Van der Beek NA,...
Source: Journal of the Association of Physicians of India - April 28, 2023 Category: General Medicine Authors: Arun Sree Parameswaran None Singh Lokesh Saini Divya Aggarwal Source Type: research
GIST (ILEAL) Revealed by Peculiar Paraneoplastic-myositis and Hypo-Thyroidism
CONCLUSION: Upto 10% dermato-myositis 5% poly-myositis can be paraneoplastic manifestation of underlying solid organ malignancy. overexpression of thyroid-hormone-inactivating type 3 iodothyronine deiodinase (D3) enzyme from GIST tumours often leads to hypothyroidism. References 1.Maynard MA, Marino-Enriquez A, Fletcher JA, et al. Thyroid hormone inactivation in gastrointestinal stromal tumors. N Engl J Med 2014;370:1327-1334. 2.Samimi M, Nseir A, Kerdraon R, et al. Tumeur stromale duodenale revelee par une dermatomyosite paranéoplasiqueStromal duodenal tumor revealed by paraneoplastic dermatomyositis. Gastroenterol Clin ...
Source: Journal of the Association of Physicians of India - April 28, 2023 Category: General Medicine Authors: Chirantan Mandal Pradeep Kumar Dutta Source Type: research
