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Total 519 results found since Jan 2013.
Infraclavicular Catheter in MELAS Syndrome for Analgesic Purposes
M Onay, T Tanyel Kiremitçi, G Erdoğan Kayhan, D İlhan Algın, MS GüleçNeurology India 2023 71(4):764-766
MELAS syndrome is defined as mitochondrial myopathy accompanied by encephalopathy, lactic acidosis, myoclonus, stroke-like episodes. It has a progressive course, multi-systemic effects and severe complications. Myoclonic contractions are unresponsive to many anti-epileptic drugs; these contractions and spasms may lead to severe pain. Systemic analgesic drugs are not sufficient to control pain. Therefore, continuous brachial plexus blockage may be pr...
Source: Neurology India - August 18, 2023 Category: Neurology Authors: M Onay T Tanyel Kiremit & #231;i G Erdo & #287;an Kayhan D & #304;lhan Alg & #305;n MS G & #252;le & #231; Source Type: research
A Call for Increased Focus on Fractures in Congenital Myopathy Infants
Source: Indian Journal of Pediatrics - August 10, 2023 Category: Pediatrics Source Type: research
Dysimmune Myopathy Due to Antisynthetase Syndrome
Samyuktha Anand, Sanjeev SivakumarNeurology India 2023 71(2):404-405
Source: Neurology India - April 29, 2023 Category: Neurology Authors: Samyuktha Anand Sanjeev Sivakumar 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
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
