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Kulkarni, V.
- Pompe's Disease:A Rare Glycogen Storage Disorder
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Authors
Affiliations
1 Ruby Hall Clinic, 2/A2/20 New Ajanta Avenue Kothrud, Pune, 411029, Maharashtra, IN
2 Poona Hospital, Pune, IN
3 Ruby Hall Clinic, Pune, IN
1 Ruby Hall Clinic, 2/A2/20 New Ajanta Avenue Kothrud, Pune, 411029, Maharashtra, IN
2 Poona Hospital, Pune, IN
3 Ruby Hall Clinic, Pune, IN
Source
The Indian Practitioner, Vol 69, No 10 (2016), Pagination: 25-26Abstract
Pompe's disease is an autosomal recessive disorder characterized by deficiency of acid alpha-glucosidase resulting in intra-lysosomal accumulation of glycogen and leading to progressive muscle dysfunction. The incidence of the disease is approximately 1 in 140,000 for infantile GSD II and 1 in 60,000 for adult GSD II. A seven months old male child four, kg in weight first product of non consanguinous marriage full term normal vaginal delivery presented with complaints of failure to thrive and delayed milestones and poor muscular tone. Electrocardiograph showed prominent R waves alongwith short PR interval in all leads suggestive of Pompe's disease Cardiac colour doppler showed biventricular hypertrophy with significant systolic dysfunction and advanced left ventricular diastolic dysfunction alongwith a small 4mm ostium secundum atrial septal defect with moderate pulmonary hypertension. Creatine kinase levels were high. Urine showed no myoglobinuria and liver function tests were normal Lysosomal enzyme studies confirmed lysosomal alpha 1,4 glucosidase enzyme deficiency with ratio of 0.16 [normal>0.2], thus establishing the diagnosis of Pompe's disease.Keywords
Glycogen Storage Disorder, Pompe’s Disease.
References
- Wagner KR (2007). “Enzyme replacement for infantile Pompe disease: the first step toward a cure”. Neurology 68 (2): 88–9. doi:10.1212/01.wnl.0000253226.13795.40.PMID 17210887
- Ausems MG, Verbiest J, Hermans MP, et al. (September 1999). “Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling”. Eur. J. Hum. Genet. 7 (6): 713–6. doi:10.1038/sj.ejhg.5200367. PMID 10482961.
- Yamaguchi Syndrome-An Underdiagnosed Entity
Abstract Views :252 |
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Authors
Affiliations
1 Ruby Hall Clinic, Pune, IN
1 Ruby Hall Clinic, Pune, IN
Source
The Indian Practitioner, Vol 69, No 11 (2016), Pagination: 30-31Abstract
AHCM [apical hypertrophic cardiomyopathy] has typical findings on electrocardiography, echocardiography and left ventricular angiography. The electrocardiographic changes and symptoms associated with AHCM often mimic acute coronary syndromes also called pseudoinfarct pattern and coronary angiogram can be performed with pre-diagnosis of coronary artery disease several times. Physicians should consider AHCM in patients with similar electrocardiographic changes and symptoms as that of acute coronary syndrome.Keywords
Apical Hypertrophic Cardiomyopathy, Pseudoinfarct Pattern.References
- Duygu H, Zoghi M, Nalbantgil S, Ozerkan F, Akilli A, Akin M, et al. Apical hypertrophic cardiomyopathy might lead to misdiagnosis of ischaemic heart disease. Int J Cardiovasc Imaging 2008; Doi: 10.1007/s10554-008-9311-7.
- Wall EE, Bax JJ, Schalij MJ. Detection of apical hypertrophic cardiomyopathy; which is the appropriate imaging modality. Int J Cardiovasc Imaging 2008; doi:10.1007/ s10554-008-9325-1.
- Endovascular De-Vascularization of the Jugulo-Tympanic 'Aggressive-Paraganglioma'
Abstract Views :161 |
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Authors
Affiliations
1 Dept of Neurosurgery, B.J. Govt Medical College, Pune, IN
2 Ruby Hall Clinic, IN
3 Ruby Hall Clinic, Pune, IN
4 Poona Hospital, Pune, IN
1 Dept of Neurosurgery, B.J. Govt Medical College, Pune, IN
2 Ruby Hall Clinic, IN
3 Ruby Hall Clinic, Pune, IN
4 Poona Hospital, Pune, IN
Source
The Indian Practitioner, Vol 69, No 12 (2016), Pagination: 11-20Abstract
Background: Jugulotympanic 'aggressive-paraganglioma' (JTa-P) grows rapidly, within months intrudes in to jugular bulb, labyrinth and compresses the lower cranial nerves (LCN). Scanty cellularity and intense-vascularity complicates tumor surgery. Post-surgically, it yields large volumes of residues and results in LCN-palsy. With increased recurrence rate it causes more morbidity and mortality.
Objective: 1. Radio-imaging early the aggressive-phenotypes. 2. De-vascularization and super-selective endovascular arterial embolization(EAE) of the tumor feeding arteries for better surgical outcome.
Material & Method: Computerized tomography (CT), magnetic resonance imaging (MRI) and digital subtraction angiography (DSA) characteristically defines the aggressive phenotypes. Seven patients of intractable vertigo and lower cranial nerve palsy diagnosed and devascularized between 2008 and 2012 years. JTa-P categorized as Type 1, Type 2, Type 3 and Type 4. Pre-surgically adequate de-vascularization of vascular blush-map (90%) along with EAE performed, followed by surgery between 3rd and 5th day of the de-vascularization. It gives maximum avascularity.
Results: Subtotal radical excision was possible. LCN-functions could be preserved in 42.85%. Morbidity reduced to 50%. Vertigo tinnitus improved. Four year follow up showed no tumor recurrence.
Conclusion: 1. Radio imaging gives early diagnosis. 2. Endovascular de-vascularizationis an useful adjunct in reducing morbidity and mortality.
Keywords
1) Jugular Foramen Syndrome, 2) Aggressive-Jugulo-Tympanic Paraganglioma, 3. Radio-Imaging, Digital Subtraction Angiography (DSA), 4. De-Vascularization and EAE.References
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- Havekes B, van der Klaauw AA, Hoftijzer HC, Jansen JC, and van der Mey AG, Vriends AH. Reduced quality of life in patients with head and neck paragangliomas. Eur J Endocrinol. 2008 Feb. 158(2):247-53.
- Rao AB, Koeller KK, Adair CF. From the archives of the AFIP. Paragangliomas of the head and neck: radiologic-pathologic correlation. Armed Forces Institute of Pathology. Radiographics. 19 (6): 1605-32.
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- CJM LipsEmail author, EGWM Lentjes, JWM Höppener, RB van der Luijt and FL Moll; Familial paragangliomas; Hereditary Cancer in Clinical Practice20064:169
- Spector GJ, Druck NS, Gapo M. Neurologic manifestations of glomus tumors in the head and neck. Arch Neurol 1976; 33:270-274
- Al-Mefty O, Teixeira A. Complex tumors of the glomus jugulare: criteria, treatment, and outcome. J Neurosurg 2002;97:1356–1366.
- Eisenhofer G, Bornstein SR, Brouwers FM, et al. Malignant pheochromocytoma: current status and initiatives for future progress. Endocrine-related cancer. 2004 Sep; 11(3):423–436. [PubMed]
- Young AL, Baysal BE, Deb A, Young WF., Jr. Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene.The Journal of clinical endocrinology and metabolism. 2002 Sep; 87(9):4101–4105.
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- Kukherji SK, Kasper ME, Rart RP, Mancuso
- Effective Use of A-GPS for Generating Geographical Coordinates to Locate Natural Gas Utilities in Suburban Area
Abstract Views :185 |
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Authors
Affiliations
1 Department of Geographical Information System, Mahanagar Gas Limited, Mumbai, IN
1 Department of Geographical Information System, Mahanagar Gas Limited, Mumbai, IN
Source
International Journal of Engineering Research, Vol 7, No 5 (2018), Pagination: 82-85Abstract
The purpose of this study is to see that how geographical coordinates (Latitude & Longitude) generated using AGPS device can be useful in improving the geographical location of point utilities. This study has shown the use of AGPS for improving the location of utilities (EG: pipelines laid underground, different valves, service regulators, etc.) in GIS software at any gas distribution company. An Assisted GPS receiver is used to capture the point location and get the geographical coordinates of that location. A survey in this study shows the accuracy of this AGPS under different urban circumstances. To assess the accuracy of Assisted GPS, its results are compared with DGPS instrument which has an accuracy within few centimeters. The results obtained shows that 68 times out of 88 AGPS has given accuracy within 10 meters, maximum error being 35.82 meters. If we compare it with current system, out of 505 SRs 65 are shifted from their position with range of 15 meters to 160 meters and 85 SRs are missing from their place which can be of any range may be in kilometers. This error is far more than the results obtained from AGPS survey hence it can be effective to use AGPS. Though this technique cannot be used where accurate point positioning is required but this cheap and economical technique is useful where dislocation problem is in large scale.Keywords
Geographical Information System (GIS), AGPS (Assisted GPS), DGPS (Differential GPS).Full Text
References
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- j. M. S. Board, "Geography," 06 04 2016. [Online]. M. C. G. L. M.D. Karunanayake, "Evaluation of Assisted GPS (AGPS) in Weak Signal Environments Using a Hardware Simulator," ION GNSS 2004 Conference, p. 41, 2004.