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1.
Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency in three Indian families
Congenital methemoglobinemia is a relatively rare clinical disorder characterized by life-long cyanosis, caused by either an inherited mutant hemoglobin (Hb-M) or deficiency of physiologically active NADH-dependent methemoglobin reductase (NADH-MR). NADH-MR deficiency leads to two different types of recessive congenital methemoglobinemia. In type I, cyanosis is the only major symptom and NADH-MR deficiency is restricted only to the red blood cells. In type II, cyanosis is associated with severe mental retardation and neurological impairment. The objective of this study is to establish the cause of cyanosis in our cases of congenital methaemoglobinemia. Erythrocyte NADH-MR activity was assayed spectrophotometrically. Spectral analysis of the hemolysate treated with potassium ferricyanide was recorded between 400-700 nm and Hb electrophoresis on starch gel at pH 7.0 was done to rule out the presence of Hb-M. NADH-MR deficiency was detected in 3 families. There was a history of consanguinity in one of these cases. The three propositi presented with breathlessness, fever and peripheral cyanosis. There was no history of cardiac illness or exposure to drugs and chemicals. There were no signs and symptoms of mental retardation. The presence of Hb-M was ruled out. Hb-A2, Hb-F, G6PD activity and reduced glutathione levels were normal. NADH-MR activity in all the cases ranged from 4.1 to 9.2 IU/g Hb (normal range 7.0-24.0 IU/g Hb). We describe NADH-MR deficiency in three unrelated cases (age 4 months to 6 years) where the activity of the enzyme was 30-40% of normal. These three cases of congenital methemoglobinemia are due to type-I NADH-MR deficiency without mental retardation. 相似文献
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Khushnooma Y. Italia Farah F. Jijina Dipty Jain Rashid Merchant Anita H. Nadkarni Malay Mukherjee Kanjaksha Ghosh Roshan B. Colah 《Clinical biochemistry》2010,43(16-17):1329-1332
ObjectivesHydroxyurea is known to reduce ineffective erythropoiesis and thereby hemolysis leading to a reduction in bilirubin levels in patients with hemoglobinopathies. However, the effect of hydroxyurea on hyperbilirubinemia in relation to the UGT1A1 gene promoter polymorphism is not known in Indian patients with different hemoglobinopathies.Design and methodsWe studied 112 patients (77 sickle cell anemia, 22 β-thalassemia intermedia and 13 HbE-β-thalassemia) who were on hydroxyurea therapy for 2 years for their response towards hyperbilirubinemia associated with UGT1A1 promoter polymorphism.ResultsThe patients with (TA)7/(TA)7 repeats had significantly higher serum bilirubin levels than those with (TA)6/(TA)6 repeats in all the groups and the reduction in serum bilirubin after hydroxyurea therapy was still higher among patients with (TA)7/(TA)7 repeats when compared with (TA)6/(TA)6 repeats.ConclusionsHigher bilirubin levels were associated with the (TA)7/(TA)7 sequence however they did not come down to normal levels after hydroxyurea therapy. 相似文献
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Manish Kumar Shah Babita Ghai Nidhi Bhatia Roshan Kumar Verma Naresh Kumar Panda 《Auris, nasus, larynx》2019,46(4):593-598
ObjectiveWe evaluated the accuracy and feasibility of transcutaneous laryngeal ultrasonography as an alternative to videolaryngoscopy for assessing vocal cord mobility to rule out recurrent laryngeal nerve injury following thyroidectomy.MethodsForty-five adult patients scheduled to undergo elective thyroidectomy under general anesthesia were included. Preoperatively, indirect laryngoscopy and transcutaneous laryngeal ultrasonography was done for assessing vocal cord mobility. Intraoperatively, following induction, patients were intubated using videolaryngoscope. On completion of the surgical procedure, one anesthetist performed videolaryngoscopy so as to record vocal cord mobility while the patients were being extubated in deep plane of anesthesia. Simultaneously another anesthesiologist performed transcutaneous laryngeal ultrasonography.Vocal cord mobility, changes in hemodynamics and total time duration for the two procedures was recorded. Indirect laryngoscopic assessment and flexible fiberoptic laryngoscopy was done on postoperative day 1 and 7 respectively.ResultsPostoperative videolaryngoscopy picked up bilaterally mobile vocal cords in 88.8% cases. Transcutaneous laryngeal ultrasonography could correctly identify 39(86.6%) of these patients, with 1(2.5%) patient being misdiagnosed as having bilaterally immobile vocal cords. Further, videolaryngoscopy identified 5 patients of vocal cord palsy, of which transcutaneous laryngeal ultrasonography correctly identified 3 (60%) patients. Hence, in comparison to videolaryngoscopy, the sensitivity, specificity, positive predictive value, and negative predictive value of transcutaneous laryngeal ultrasonography for assessment of vocal cords was 75%, 95.1%, 60%, and 97.5% respectively.ConclusionIn patients undergoing thyroidectomy, transcutaneous laryngeal ultrasonography can serve as a non-invasive, bedside screening tool for assessing vocal cord palsy postoperatively. 相似文献
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Shrinand V Vaidya Ambarish A Mathesul Atul N Panghate Roshan Wade Dhiraj V Sonawane 《Indian Journal of Orthopaedics》2012,46(2):239-241
We report a rare case of bilateral multiligament knee injury in an 18-year-old female employed in garment industry. Patient was wearing salwar kameez and dupatta while operating an electric laundry machine. In this case we discuss a peculiar mechanism of injury caused due to wearing dupatta near working site and suggest simple preventive measures. 相似文献